Zouves Fertility Center — Embryo Transfer Record with PGT-A Result

Photograph of an embryo transfer report from Zouves Fertility Center for the cycle that resulted in Levi's birth.

Cycle and transfer

• Cycle: 14512 FS
• Transfer date: October 26, 2019
• Embryo: #6, ID 6-13851 FA
• Stage: FHB II (fully hatched blastocyst stage II)
• Grade: 6AB

Parties

• Biological mother (egg source): Miki Heller, DOB 04/05/1985 (age 34 F at transfer)
• Biological father (sperm source): Jacob Heller, DOB 10/23/1984 (age 35 M at transfer)
• Gestational carrier (surrogate): Laura Mendez, DOB 05/18/1986 (age 33 F at transfer)

Preimplantation genetic testing (PGT-A / PGS)

• Genetic Interpretation: NORMAL

PGT-A (preimplantation genetic testing for aneuploidy) of the transferred embryo was normal. This rules out gross whole-chromosome aneuploidy (e.g. trisomy 21, 18, 13, monosomy X, XXY, triploidy) in the embryo at the blastocyst stage.

Clinical significance

This is the earliest genetic-testing artifact on file for Levi and establishes several durable facts:

• Levi was conceived via IVF using both parents' gametes (biological parents = Miki and Jake Heller).
• Carried by a surrogate (Laura Mendez) who subsequently had gestational diabetes during pregnancy.
• At the blastocyst stage, the embryo had normal PGT-A, so gross aneuploidy is excluded as an etiology.

PGT-A does NOT rule out:

• Single-gene disorders (addressed by later trio exome and trio genome, both negative)
• Mosaic aneuploidy below the biopsy detection threshold
• Somatic mosaic variants that arose after the biopsied trophectoderm cells were sampled
• Copy-number variants below PGT-A resolution
• Uniparental disomy / imprinting defects
• Mitochondrial heteroplasmy

The "maternal diabetes" HPO term used in subsequent GeneDx orders refers to the gestational carrier's gestational diabetes, not the biological mother.

Sutcliffe Clinic — New Consultation Questionnaire (parent intake)

Parent-completed new-consult questionnaire for the initial evaluation intake with The Sutcliffe Clinic. Completed by Miki Heller on January 24, 2024 (Levi age 3.5). This predates the diagnostic evaluation (Feb–Mar 2024) by about 5 weeks and is the earliest structured developmental history captured in a Sutcliffe-series document.

The questionnaire PDF is numbered "Page 7/16" through "Page 14/16", consistent with being one component of a larger Sutcliffe registration packet.

Identifiers

• Child: Levi Matthew Heller
• DOB: July 2, 2020
• Age at form: 3.5
• Address: 396 Raymundo Drive, Woodside, CA 94062
• Primary language at home: English
• Referred by: Dr. Pittson
• Primary care pediatrician: Dr. Pittson, (650) 851-4747

Parents

• Primary guardian: Miki Heller, (408) 829-1101, miki.heller@gmail.com, biological parent
• Secondary guardian: Jacob Heller, (408) 505-1614, jacob.heller@gmail.com, biological parent

Services requested

• Developmental Behavior Pediatrics
• Psych Testing and Evaluation
• ABA Therapy

Parent-stated concerns (verbatim excerpts)

• Top overall concern (verbatim): "Levi is developmentally delayed — he doesn't speak where he should be this age, he doesn't take instruction well, and he is very difficult to engage (lives in his own world)."
• Strengths and interests (verbatim): "Levi is an extremely happy kid — basically no tantrums, and very few crying moments. He is extremely independent and can play by himself happily for a long time. He is very kind and patient. He loves to smile and laugh."
• Goals for initial visit: "Get an analysis of Levi's development, and create a plan for how to help him improve."

Three ranked concerns

1. Speech delay — No Stress. Not stringing words together; speaks very plainly. Can communicate wants (e.g., "Cookie" vs. "Can I have a cookie please"). Words are sufficient to always ask for what he wants.
2. Doesn't follow instructions — Moderate Stress. Safety-critical situations (e.g., "Hold my hand while we cross the street") create a short burst of severe stress. Parents have built avoidance systems (e.g., no long sidewalk walks) which reduces stress but also limits developmental practice.
3. "Lives in his own world" — No Stress. Plays independently for hours. Doesn't engage with shared activities like reading books.

Developmental milestones (per parent)

• Crawling: 8 months
• Walking: 15 months
• First word: 21 months
• First sentence (2+ words): NOT YET LEARNED at 3.5y
• Potty training: NOT YET LEARNED at 3.5y

Behavioral concerns checked on the form

• Transitions (current): "If you try to interrupt an activity before he's ready to move on, he often becomes upset"
• Making friends (current): "He can parallel play well, but doesn't really engage with others. Maybe that's still age-appropriate."
• Reciprocal conversation (current): "(1) there isn't any back-and-forth yet, he will respond to questions but it's only one-way, and (2) he doesn't consistently respond to questions."
• Inattention (current): "He is in his own world, so if we're reading him a book or trying to talk to him, he will often just walk away to wherever he's more interested in."

Boxes NOT checked: infant colic, eye contact, anxiety, mood, adaptability, impulsivity, hyperactivity.

Past medical history (parent-reported at Jan 24, 2024)

• No hospitalizations, no surgeries, no chronic medical concerns
• No genetic testing yet (CMA will follow May 24, 2024; exome/genome 2025-2026)
• No neurologist yet
• No MRI/CT yet
• No EEG yet
• Hearing test: YES, dated Jan 24, 2024 (results not filled in on this form — the March 2024 Sutcliffe dx note later states this hearing test was "inconclusive")
• No vision test
• No head injuries

Current meds at Jan 24, 2024

• Children's probiotics (over-the-counter, daily, AM)
• N-acetyl cysteine supplement (over-the-counter, daily, AM and PM)

(Consistent with the supplement regimen later captured in the March 8, 2024 Sutcliffe dx note.)

Allergies

• No drug, seasonal, or food allergies reported

Pregnancy / birth history (per parent)

• Biological mother 34 at IVF conception
• Gestational carrier (surrogate) carried the pregnancy; surrogate 34 at delivery
• Surrogate had gestational diabetes; otherwise uncomplicated
• Ultrasounds normal
• No prescription meds, herbal remedies, or OTC medications in pregnancy (verified in the surrogate)
• Gestational age: 38.5 weeks
• Birth weight: 8.5 lbs (8 lb 5 oz)
• Not premature; not NICU; no first-days problems; home at 1 day

Regression (verbatim — earliest written account)

• "Did your child ever lose skills he/she once had?" → NO checked on the form
• BUT the free-text concern onset box says:
  • Age of parental concern: 2.75 years
  • "Two things happened at the same time. First, he had a couple months of being sad and inconsolable. This was right when our third kid was born, so we assumed it was due to that. Second, he had a bit of a speech/engagement regression, where the consistency with which he responded to questions decreased. It's unclear if that second one is also due to the new baby or if it is just a coincidence."

Audit flag: the form's simple yes/no "lost skills?" box is No, but the free-text box explicitly describes a speech/engagement regression around 2.75y. This is the earliest parent-documented description of regression in Levi's records, and it is fully consistent with the March 2024 Sutcliffe dx note and the 4/9/2026 phenotype profile — the regression is real; the earlier Jan 2024 form answer is an artifact of the form's wording (parents at that time weren't sure whether to call it a "loss of skills" vs. a subtle regression possibly confounded by the new baby). The current case narrative treats the regression as confirmed.

Family & social history (per parent)

• Miki (mother, 38, MBA, VP of Operation at a startup, healthy)
• Jake (father, 39, JD, executive at legal-tech company, healthy)
• Asher (brother, 4, preschool, healthy)
• Ezra (brother, 1, healthy)
• Caleb (brother, 2 months, healthy) — confirms Caleb was ~2 months old at Jan 2024 intake, i.e., born late Nov 2023
• No adoption, no divorce/separation, no familial illness
• NO family history of developmental delay, learning problems, attention issues, depression/anxiety, muscle problems, language delay, cognitive disability, autism, or alcohol abuse — all boxes marked No

Schooling / services

• Not currently in school; cared for by a nanny
• Private therapies: Speech therapy, Occupational therapy (already in place by Jan 2024)
• No IEP, no Regional Center services at this time
• Nanny has observed the delays but is "unconcerned"
• Babysitter (whose own adult son is on the spectrum) has noted similarities (e.g., toe-walking)

Lifestyle

• Extracurricular interests: trains, outdoors, park
• No structured exercise routine
• Vegetarian diet (same as documented in the March 2024 dx note)
• Sleep: 8-9pm bedtime; typically 10-12h of sleep; may play in bed happily before sleep or during night wakings; "almost never cries"
• Bruxism: "used to grind his teeth quite a lot (almost constantly)... still does it now but very rarely (once or twice per week)" — this documents pre-existing bruxism at intake, consistent with the March 2024 dx note entry "Bruxism reported"
• Most recent height/weight (per parent, Aug 10, 2023): 3'6", 40 lbs — ~1 year before this intake

Immunizations

• Up to date

Interpretive notes

• This is the earliest written developmental history captured in the Levi record series. It anchors the pre-diagnosis timeline at Jan 24, 2024 (about 6 weeks before the diagnostic visit on March 8, 2024).
• Establishes that Dr. Pittson was Levi's primary pediatrician at intake and made the Sutcliffe referral.
• Establishes that NAC and probiotics were already in use at the earliest intake — they were not introduced after diagnosis.
• Establishes that bruxism predates diagnosis and was frequent before becoming rare by early 2024.
• The regression concern was already present at intake; the parents were not yet sure how to characterize it, but their free-text description is diagnostic of the regression pattern that Sutcliffe formalized in March 2024.
• The hearing test attempt on Jan 24, 2024 (referenced here, results not written in) is the same inconclusive hearing test later noted in the March 2024 Sutcliffe dx report.

Sutcliffe Clinic — Developmental-Behavioral Pediatrics Evaluation

Evaluation date: March 8, 2024. Report signed March 21, 2024.

Provider

Dr. Trenna Sutcliffe, MD, MS, FAAP, FRCPC — Developmental Behavioral Pediatrician. The Sutcliffe Clinic, 851 Fremont Ave #110, Los Altos, CA 94024.

This provider was previously listed in content/providers/providers.yaml as "Trenna S" with unknown last name. This record establishes the full name and clinic.

Chart / visit identifiers (2026-04-17 audit addition)

• Chart number: HELE000001
• Visit dates referenced by the report:
  • 02/28/2024 — initial intake visit
  • 03/01/2024 — in-person visit
  • 03/08/2024 — parent-feedback visit (the date this report documents)
• CPT billing code on report: 99215 (OFFICE O/P EST HI 40 MIN)

Diagnosis

• Autism Spectrum Disorder (ICD-10 F84.0) per DSM-5 criteria.

Instruments

• SRS-2 total: T-score 65 (Upper Mild Autism range)
• SRS-2 subtest T-scores (2026-04-17 audit addition):
  • Social Awareness: 63 (Mild)
  • Social Cognition: 56 (Normal)
  • Social Communication: 71 (Moderate)
  • Social Motivation: 60 (Mild)
  • Restrictive Interests / Repetitive Behaviors: 66 (Moderate)
• DSM-5 ASRS (Autism Spectrum Rating Scale): Very Elevated range, 99th percentile
• BASC-3 (Behavior Assessment System for Children, 3rd Ed.) (2026-04-17 audit addition):
  • Attention: Clinically Significant
  • Atypicality: At Risk
  • Withdrawal: At Risk
  • Social Skills: At Risk
  • Activities of Daily Living: At Risk
  • Functional Communication: At Risk
• Hearing test attempted 01/24/2024: inconclusive

Family and birth history (as reported to Sutcliffe)

• Levi born via gestational carrier (surrogate) through IVF.
• Biological mother Miki Heller: age 34 at conception (MBA, age 38 at time of evaluation).
• Biological father Jacob Heller: JD, age 39 at time of evaluation.
• Surrogate: age 34 at delivery. Gestational diabetes in pregnancy; otherwise uncomplicated.
• Birth: 38.5 weeks, birth weight 8 lbs 5 oz (≈8.5 lb), normal delivery.
• Siblings: Asher (age 4, healthy), Ezra (age 1, healthy), Caleb (age 2 months, healthy). No relevant family history of neurodevelopmental disorder.

Developmental history reported

• Crawling: ~8 months
• Walking: 15 months
• First words: 21 months
• Regression reported at ~2.75 years (per evaluation) — affecting language and social engagement. (2026-04-18 audit update: the "no regression of skills once learned" wording previously attributed only to the Nov 8, 2024 progress report actually originates in the May 12, 2024 ABA Initial Treatment Plan biopsychosocial section and is copied forward into the Nov 2024 progress report. The March 8, 2024 diagnosis report documents regression; the May 2024 treatment plan and Nov 2024 progress report describe no regression. The Jan 24, 2024 parent intake free-text box also describes a speech/engagement regression around 2.75y. The family's current narrative, the 4/9/2026 phenotype profile, and multiple subsequent notes confirm regression, so the May 2024 + Nov 2024 "no regression" wording is clinic-authored boilerplate, not a parent-verified reversal.)

Medications at time of evaluation

• Children's probiotics (over-the-counter)
• N-acetyl cysteine (NAC) (supplement)

Diet and other

• Vegetarian diet.
• Bruxism reported.

Clinical impression

ASD per DSM-5 in a 3 year 8 month old boy. Recommendation for early-intensive behavioral intervention, speech-language therapy, occupational therapy, coordination with school district.

Sutcliffe Clinic — Behavior Therapy New Client Intake Package (parent intake)

Parent-completed behavior-therapy intake package for Levi's ABA program entry at The Sutcliffe Clinic. Signed by Miki Heller on April 2, 2024 (two signatures: 4:08 PM welcome-letter page, 4:25 PM telehealth-consent / release-of-information page). Levi age 3y 9m. This intake is the gateway between the March 8, 2024 autism diagnosis and the May 9, 2024 ABA treatment start documented in the May 12, 2024 Initial Treatment Plan.

The PDF title (per Sutcliffe's document-management system) displays "Miki Heller" as the patient name on the package header, but the enclosed questionnaire clearly identifies Levi Matthew Heller (DOB 07/02/2020) as the client. The header appears to reflect the responsible-adult name for billing, not a clinical re-labeling.

Identifiers

• Client: Levi Matthew Heller
• DOB: July 2, 2020
• Age at intake: 3y 9m
• Financially Responsible Party: Miki Heller (mother)
• Address: 396 Raymundo Drive (same as Jan 24, 2024 intake)
• Diagnosis: Autism
• Date of Diagnosis listed on this form: Mar 20, 2024
• Person who made diagnosis: Dr. Sutcliffe

Audit flag — diagnosis date. The Mar 8, 2024 Sutcliffe evaluation record documents evaluation date 03/08/2024 and report-signed date 03/21/2024. This intake form lists the diagnosis date as 03/20/2024, which is one day before the signed-report date. Likely clerical — Miki probably wrote the day before the report landed in her hands. Not a clinical conflict.

Insurance (confirms Mar 2024 record)

• Insurance Provider: Anthem Blue Cross (form written as "Anthem Blue Cruss" — clerical typo)
• Name of Insured: Miki Heller
• Birthdate of Insured: Apr 5, 1985
• Member ID: JQU165A22522 (matches March 2024 and November 2024 records)
• Group Number: J26149
• Insurance Phone: (800) 677-6669
• Plan details from member card image (PDF page 9): Anthem Platinum PPO 20/10%/3000
  • Office Visit: $20 / 0%
  • Specialist Visit: $40 / 0%
  • Medical Deductible: $0 / $0
  • Emergency Room: $150 / 10%
  • Contract Code 3057, Rx Bin 003858, Rx PCN A4, Rx Group WLHA, Plan 040
  • Includes Blue View Vision and Prudent Buyer PPO
  • Effective 12/27/16

Current providers listed by parent

• ABA: (blank — Sutcliffe's ABA program is the one being started; this is the intake form for that program)
• Private Behaviorist: blank
• SLP: Speachy Learning Center, Monday and Friday 10:00-10:30 (1 hr/week total — matches Nov 2024 progress report)
• OT: blank on form (though OT was listed in the Jan 2024 intake and in later records — likely underreported here, since the Nov 2024 progress report confirms private OT 45 min/wk)
• Other: blank

Parent-reported concerns at intake (ABA-focused)

The form asks for concerns rated 1 (low) to 5 (high intensity). Miki filled in two:

1. Low engagement — Desired outcome: Engage with others — Intensity: 5 (High)
2. Speech delay — Desired outcome: Use speech socially — Intensity: 4

(A third concern row was left blank.)

Behavior goals selected on the form (checklist)

Two of five pre-printed behavior goals were checked:

• Attention to Task ✓
• Reduced Escape or Avoidance — not checked
• Sensory Seeking — not checked
• Attention Seeking — not checked
• Social Skills Acquisition ✓

Child interests (play detail)

• Playground/Outdoors: parallel play, forever; sandbox, swing, slides, spinners
• Sit-down toys: parallel play, forever; trains (top), train tracks, cars; will accept other toys only if trains are unavailable
• Visual activities: solo, ~30 minutes; train videos, educational videos; eventually gets bored
• Pretend play: none
• Board games: none
• Jokes / storytelling / recap of day: none

Parent-listed talents/accomplishments (verbatim three-item list):

1. "Levi loves trains, and can play with trains on his own all day every day. It's good because he's happy and very independent, but he also gets totally sucked in and doesn't interact with anything else in the world if there are trains to play with."
2. "He loves being outdoors. He plays in the playground, sandbox, runs on the grass, goes for hikes, likes to swim. He is very happy when he's outside. (We are happy if it's safe — we are scared that he doesn't have sufficient self-preservation instincts.)"
3. "He loves music, he will sing many songs throughout the day and likes playing on various musical instruments."

Audit flag — self-preservation / elopement. On the behavior checklist page, "Elopement" is marked No and "Difficulties Transitioning" is marked No. But the community-behavior section marks "Runs all over" as the best description of community behavior, and the free-text talents entry describes explicit fear that Levi lacks sufficient self-preservation instincts. The form's "Elopement = No" should be read as "no intentional fleeing from caregivers" rather than "no elopement risk" — the running-in-community + self-preservation concern suggests meaningful community safety risk, which is later captured in the Nov 2024 progress report's Maximum support level.

Adaptive skills (form checklist)

• Eye contact / joint attention (independent): No — "Eye contact — yes sometimes. Joint attention — no, he's very much in his own world most of the time."
• Feed themselves: Yes
• Get dressed independently: No — "He's still only 3.5, we dress him. He helps though."
• Brush teeth independently: No — "He does brush his teeth but he's not that good at it."
• Transition independently: Yes
• Bathe independently: Yes
• Toilet independently: No — "Still in diapers"
• Dietary restrictions/dislikes: Yes — "Vegetarian diet"

Behavior exhibited (form checklist)

• Elopement: No (caveat above)
• Physical Aggression: No
• Difficulties Transitioning: No (conflicts with Jan 2024 intake's description of transition difficulty; later resolved toward "transitions yes" as Levi matures — moderate-stress area only in safety-critical transitions)
• Other (spitting, loud vocalizations, ignoring): No

Sensory / sound response

• "Seems fine with all sounds" ✓ (only box checked)

Expressive communication

• "Uses single words" ✓ (only box checked; "Speaks in phrases" NOT checked, "Stutters" NOT checked)

Community behavior

• "Remains in a stroller or on a harness" ✓
• "Required to hold hands" ✓
• "Runs all over" ✓

Three boxes checked simultaneously; suggests Levi is typically in stroller/harness to manage runaway risk and is required to hold hands when not contained. This is the single most operational description in the form of Levi's community safety profile.

Relationships

• Attachment: "Dad, but it used to be like 99% dad / 1% mom and now it's maybe 52/48." (consistent with Jan 2024 intake mentioning strong prior Dad preference)
• Separation: "He's pretty independent, no separation issues at this time. He used to be very attached to his dad, but that was a year ago and he got over it."
• Sibling relationships: "very sweet and gets along well with everyone in the family... He is very loving, especially to his two baby brothers."

Household composition at intake (new information)

Parent-training participants: Mom, Dad, au pair (Diana). This is the first documentation of an au pair named Diana in Levi's records. The Jan 24, 2024 intake said care was by "a nanny" (unnamed) who was "unconcerned." The April 2024 intake now names the au pair Diana and formally includes her as a parent-training participant.

Provider-training commitment

• Weekly/bi-weekly caregiver sessions: Mom, Dad, au pair Diana
• Parent education and parent behavior-change program explicitly acknowledged

Fee schedule (for provenance)

• BCBA Parent Intake: $400/hr
• BCBA Client Intake, Supervision, Parent Training, Treatment Planning, Progress Reports, Coordination of Care, Discharge Reports: $265/hr
• School Meetings and Advocacy: $400/hr
• ABA Services delivered by a Behavior Therapist: $125/hr
• Telehealth/Phone Consultations: $265/hr
• Drive Time (>12 mi from clinic): $50/hr

Cancellation policy

• 48-hr notice required
• No-show: 100% of projected fees
• Cancellation <48 hr: 50% of projected fees

(Note: the separate treatment-plan documentation later lists different cancellation terms — 25% late / 100% no-show. Minor inconsistency in Sutcliffe's intake packets vs. treatment contract.)

Telehealth consent

Miki signed telehealth consent on Apr 2, 2024, 4:25 PM (HIPAA-compliant video platform; standard clauses).

Release of information

• Authorization to release/exchange confidential information with Anthem Blue Cross for treatment authorization.
• Scope: "All medical health records" (checked).

Parent signatures

• Welcome letter: signed 2024-04-02 16:08
• Telehealth / release: signed 2024-04-02 16:25

Interpretive notes

• Documents the functional gateway between the March 2024 autism diagnosis and the May 9, 2024 ABA treatment start.
• Confirms that Sutcliffe-program ABA intake was the focus, not a new second ABA program — the "ABA" field on the providers list is blank precisely because this IS the ABA intake.
• Adds the au pair Diana to Levi's household, which is the first documentation of that household change in the records (Jan 2024 intake only referenced "a nanny").
• Captures the community-safety profile (stroller/harness + hand-holding + "runs all over") more crisply than the Jan 2024 intake did.
• Parent-selected behavior goals "Attention to Task" + "Social Skills Acquisition" align with the communication / socialization / functional-adaptive goal domains that appear in the May 12, 2024 ABA Initial Treatment Plan.
• Insurance details (Anthem PPO plan 040, Rx BIN 003858, etc.) establish the baseline coverage for all subsequent ABA billing.
• The parent's "Concern: Low engagement, Intensity 5" and "Concern: Speech delay, Intensity 4" match the SRS-2 Social Communication subscale (T=71) and BASC-3 Functional Communication (At Risk) findings from the March 2024 evaluation.

ABAS-3 Parent Form (Ages 0-5) — completed by mother, April 9, 2024

Parent-completed Adaptive Behavior Assessment System, Third Edition, Parent/Primary Caregiver Form, Ages 0-5, completed by Miki Heller (mother) on April 9, 2024 (age at testing 3 years 9 months 7 days). Report generated April 17, 2024, 1:22:52 PM. Report ID: 4712786. Authors: Patti L. Harrison, PhD, and Thomas Oakland, PhD. Publisher: Western Psychological Services.

This is the baseline ABAS-3 administered as part of the Sutcliffe ABA intake assessment (97151 assessment code, see May 12, 2024 Initial Treatment Plan record). It sits between the Apr 2, 2024 behavior-therapy intake and the May 9, 2024 ABA treatment start.

Critically, a second ABAS-3 was administered Nov 5, 2024 (by the same respondent) with markedly lower scores (GAC 58 vs. this baseline 69). The Apr-vs-Nov comparison is the core longitudinal adaptive-behavior signal in Levi's record.

Child information

• Name: Levi Heller
• Sex: Male
• DOB: 07/02/2020
• Age at testing: 3 years 9 months 7 days
• State: CA
• Race/Ethnicity: White
• Disability or other limitation: Autism diagnosis

Parent/caregiver information

• Parent: Miki Heller
• Occupation: VP of Operations
• Relationship to child: Parent (mother)
• Number of siblings at home: 3 or more (consistent with Asher + Ezra + Caleb)

Testing dates

• Testing date: 2024-04-09
• Report generated: 2024-04-17 13:22:52
• Age at testing: 3y 9m 7d

GAC and domain composites

All four composites fall in Extremely Low or Low ranges. The Social domain (59, 0.3 %ile) is the most severe.

Raw score to scaled score (with age equivalents)

At chronological age 3y 9m, the adaptive age-equivalents span 1:6 to 2:11 — a gap of roughly 10-27 months across the 10 skill areas. Communication and Social are the lowest (scaled 2, age-equiv ~1:8), Motor is the highest (scaled 8, age-equiv ~2:9-2:11 — still below chronological age but the strongest relative skill).

Note: the ABAS-3 caps age-equivalents at 2:11 for items that plateau at infant-toddler level. So Motor "2:9-2:11" is the ceiling of the Ages 0-5 form, not an absolute statement that motor skills are only age 2:11.

Domain comparisons (ABAS-3 optional analyses)

The Social-vs-Practical 13-point difference is statistically significant at .05 (critical value 11.76) and base-rate ≤15% in the standardization sample — i.e., Social is meaningfully lower than Practical even controlling for Levi's already-low Practical score.

Scatter (highest-minus-lowest within each domain)

Within Conceptual, Self-Direction (7) is significantly higher than Communication (2). Interpretation: Levi's ability to direct his own attention/activity independently is a relative strength (consistent with "plays alone with trains for hours"), but his ability to communicate is a profound deficit.

Strengths and weaknesses (deviation from domain mean)

Conceptual domain mean scaled = 5, Social mean = 2.5, Practical mean = 5.

Communication (scaled 2, -3 from conceptual mean, significant) is the statistically significant intra-domain weakness.

Notable item-level patterns (ABAS-3 uses 0-3 per-item scale: 0=not able, 1=never, 2=sometimes, 3=always)

Communication (raw 42 / 78 possible)

• Strong items (score 3): Uses one or more words to get wanted items (#7), Refrains from repeating himself (#16), Sings parts of songs (#18), Makes plurals with -s (#19)
• Weak items (score 1): Follows simple commands like "No" or "Come here" (#6), Shakes head / says yes-no to simple questions (#8), Points to common items (#9), Listens for 1 minute when people talk (#13), Uses two-word phrases (#20 — but #11 "two-word phrases" scored 2: some inconsistency), Asks "Will you play with me" (#22), Conversations 3+ minutes (#25), Waits without interrupting (#26)
• Interpretation: Levi can produce words when motivated to request (single-word manding) but cannot engage in receptive comprehension, two-way conversation, or sustained listening.

Social (raw 40 / 72 possible)

• Strong items (score 3): Smiles when sees parent (#1), Relaxes when held (#2), Squeals/laughs when happy (#3), Closeness to parent (#4), Responds differently to familiar vs unfamiliar (#7)
• Weak items (score 1): Lifts arms to be picked up (#6), Imitates adult actions (#9), Respects rules/directions from authority (#10), Greets other children "Hi" (#12), Responds when introduced "Hello" (#16), Says happy/sad/scared (#18), Seeks friendship (#15), Waits turn, apologizes, embarrasses others (#20-24)
• Interpretation: Levi has preserved parent-attachment / emotional resonance but severely deficient peer-social / reciprocal / pragmatic skills. This aligns with the SRS-2 Social Communication T=71 (moderate) from March 2024.

Motor (raw 65 / 78 possible)

• Score 3 on all gross-motor items 1-20 (lifts head, rolls, sits, crawls, walks, throws, kicks, runs, bounces ball)
• Score 1 on fine-motor items 21-26 (catches ball, draws straight lines, colors within lines, twist-off jars, cuts with scissors)
• Interpretation: Gross motor is age-appropriate; fine motor is profoundly delayed. Consistent with the OT service in place.

Self-Care (raw 46 / 72 possible)

• Score 3 items: Swallows liquids, sleeps through night, eats solids, points to food, takes bath without help
• Score 1 items: Toilet-training (#14, 15, 16, 17, 19 all scored 1), dressing (#20, 21), washing hands/hair (#12, 23)
• Interpretation: Basic infant-level self-care is intact; toileting and higher-order self-care are absent — consistent with "still in diapers" per April 2 intake.

Self-Direction (raw 49 / 72, scaled 7 — relative strength)

• Score 3 items: Shows interest in toys, sits quietly, finds things to do for 5+ min independently, plays with toys without mouthing, explores new rooms, moves a few feet away from parent
• Score 1-2 items: Starts activity on command (#13), stands still (#12), asks permission (#15), keeps working on hard tasks (#16), follows routines (#20)
• Interpretation: Levi is self-directed in the sense of independent solo play but does not direct his behavior in response to adult instruction. This matches the "doesn't take instruction" concern from Jan 2024 and the parent's low engagement/speech rating from Apr 2024 intake.

Longitudinal context (cross-reference)

The same instrument was administered November 5, 2024 (7 months later, after ~6 months of ABA). Results:

Every composite dropped across the 7-month interval despite active ABA treatment. Interpretation is non-obvious and requires care:

1. Regression hypothesis: Levi's adaptive profile actually got worse across this window. This conflicts with the BCBA-reported treatment gains (VB-MAPP 18.5 → 44.5) but aligns with the family's longitudinal narrative of ongoing atypical development.
2. Reporter calibration hypothesis: Miki's frame of reference expanded with deeper familiarity with the ABAS-3 instrument and with other typically developing children (peers at preschool, family events). Items she originally marked "sometimes/2" may have been re-rated "never/1" once she had more comparison cases.
3. Ceiling/floor shift hypothesis: For a 3y 9m child, the form's age-based norm is less severe than for a 4y 4m child. The same raw behavior could produce a lower standard score at older ages.

The most likely explanation is a combination of (2) and (3), but (1) cannot be ruled out and is clinically relevant to the differential. The family's current case narrative should probably treat this 11-point GAC drop as a flag for real regression not fully captured by the BCBA's simplified "no regression" wording in the May 12 and Nov 8, 2024 reports.

Interpretive notes

• This record is the baseline ABAS-3 on which Levi's subsequent standardized adaptive scores are tracked.
• Social (scaled 2) and Communication (scaled 2) are the most severe relative to domain means.
• Motor fine-motor subscore (items 21-26 all scored 1) is the most severe fine-motor impairment captured in Levi's records to date.
• Self-Direction (scaled 7) at the Apr-2024 baseline is Levi's relative strength in the Conceptual domain, but by Nov-2024 had fallen to scaled 6 — a change that may inform the differential.
• The GAC 69 → 58 drop over 7 months is the single most important longitudinal adaptive-behavior signal in Levi's record and should be surfaced in the case overview.

Sutcliffe Clinic — ABA Initial Treatment Plan

Report date: May 12, 2024. Age at report: 3 years 10 months. Treatment start date: May 9, 2024. Current authorization period: 05/09/2024 - 11/09/2024 (initial 6-month authorization). Signed by Grace Backhaus, M.Ed., BCBA #1-23-68088 (grace@sutcliffedbp.com, 650-492-7751).

This is the formal ABA program starting document. It sits between the Apr 9, 2024 ABAS-3 baseline and the Nov 8, 2024 progress report and establishes the baseline for every goal that appears in the Nov 2024 report. It is also the first document to record the specific treatment authorization CPT totals (97151 assessment hours, 97153 technician hours, 97155 BCBA supervision, 97156 parent training) that Anthem authorized.

Team

• Diagnosing Provider: Dr. Trenna Sutcliffe, MD, MS, FAAP, FRCPC, Developmental Behavioral Pediatrician
• Case Manager / BCBA: Grace Backhaus, M.Ed., BCBA #1-23-68088, grace@sutcliffedbp.com, 650-492-7751

Identifiers

• Client: Levi Heller
• DOB: 07/02/2020
• Age at report: 3y 10m
• Agency: The Sutcliffe Clinic, 851 Fremont Ave #110, Los Altos CA 94024
• Member address: 396 Raymundo Drive, Woodside, CA 94062
• Caregivers: Miki Heller, Jake Heller
• Insurance Provider: Blue Cross (Anthem)
• Member ID: JQU165A22522 (matches Apr 2 intake and Nov 8 progress)
• Date of initial assessment report: 03/08/2024
• Treatment start date: 05/09/2024
• Current authorization period: 05/09/2024 - 11/09/2024

Recommended ABA services (this is the authorization request)

Total recommended weekly ABA: 35.5 hours (30 BT + 3 BCBA supervision + 2.5 parent training) plus a one-time 6-hour assessment block.

Assessments embedded in this treatment plan

ABAS-3 (completed by Miki Heller on 04/09/2024)

Full transcription of score tables appears in content/vault/records/2024-04-09-note-abas3-parent-mother.md. Summary on this form:

• GAC: 69 (2%ile, Low)
• Conceptual: 70 (2%ile)
• Social: 59 (0.3%ile, Extremely Low)
• Practical: 72 (3%ile)

VB-MAPP (Grace Backhaus BCBA, 04/26/2024)

• Test #1: 18.5, dated Apr 26, 2024, tester Grace Backhaus
• Graph-form visualization on page 5 of PDF: Level 1 (infant-level), Level 2, Level 3 milestones across Mand/Tact/Listener/VPMTS/Play/Social/Imitation/Echoic/Vocal/LRFFC/Intraverbal/Group/Linguistics domains
• Level 1 bar-graph shows Levi scoring primarily in the 1-3 range on most domains (Mand 1, Tact 4, Listener 0, VP-MTS 4, Play 5, Social 0-1, Imitation 0, Echoic 3, Vocal 4)
• Later retested 11/07/2024 scoring 44.5 (captured in the Nov 8, 2024 progress report)

Biopsychosocial description (verbatim paraphrase)

Levi is a 3y 10m boy diagnosed with Autism by Trenna Sutcliffe on 03/08/2024. Lives in Woodside CA with parents and three brothers. Born via surrogate (surrogate had gestational diabetes but otherwise uncomplicated). Born 38.5 weeks, 8 lb 5 oz. Health stable; no parental concerns re vision/hearing. Vegetarian diet.

Walked at 15 months, first word at 21 months. "There was no regression of skills once learned." Parental concerns: expressive/receptive language acquisition; social skills (engaging peer play); low levels of engagement. No medications at this time.

Audit flag — regression wording

This is the first document in Levi's record series to contain the exact phrase "There was no regression of skills once learned." Previously this wording was attributed to the Nov 8, 2024 progress report. The May 12, 2024 treatment plan originated the wording; the Nov 8, 2024 progress report copied it forward.

This contradicts the March 8, 2024 Sutcliffe dx note ("regression at ~2.75 years"), the 4/9/2026 phenotype profile, and the current case narrative. The wording is a boilerplate biopsychosocial template entry rather than a reconsidered clinical claim. The family's narrative and multiple other clinical records document the regression at ~2.5-2.75 years as real. The Nov 8, 2024 record already flags this inconsistency — the Nov 2024 inheritance of the boilerplate is now traceable to this May 12, 2024 document, not an independent later claim.

Educational setting and other services

• Speech Therapy: Speechy, 2x/wk, 1 hr/wk total (same as Apr 2 intake, continued into Nov 8 progress report)
• No other services listed here (OT not mentioned in this treatment plan, though it was in the Jan 2024 intake and is re-listed in the Nov 2024 progress report — likely omitted from this form because it's the ABA-only treatment plan)

Behavior intervention plan (4 target behaviors)

Goal 1: Noncompliance / Avoidance Behavior

• Operational definition: Instances of noncompliance include verbally or physically ignoring or refusing to follow directions for non-preferred tasks.
• Function: escape/avoidance and access to tangibles
• Baseline: Levi engages in noncompliance continually throughout the day for a variety of reasons.
• Antecedents: directions/demands; transition from preferred activity; relinquishing a preferred item; difficulty understanding instructions; task perceived as difficult.
• Prevention: check-in about emotional state; visual schedule; first/then statements; preference assessments; verbal transition reminders; specific praise.
• Replacement behavior: Functional Communication Training (FCT) — Levi taught to communicate wants and needs; full verbal/physical prompts faded as independence grows.
• De-escalation: minimize attention (limit eye contact / conversation); once behavior ceases, praise and prompt to use words or redirect to novel activity.

Goal 2: Sensory Seeking Hitting

• Operational definition: Any instance Levi quickly and forcefully brings his hand into contact with people or objects.
• Function: automatic reinforcement and escape
• Baseline: Up to 12 times per hour, in home and clinic settings.
• Antecedents: while engaged in preferred activity, while engaging in less-preferred activity, when not engaged.
• Prevention: check-in; ignore hitting, praise on-task behavior.
• Replacement behavior: FCT with verbal modeling.
• De-escalation: redirect to fidget toy, bouncing ball, etc.; avoid additional attention; offer break.

Goal 3: Vocal Stereotypy

• Operational definition: Non-contextual or nonfunctional speech (singing, babbling, squeals, phrases unrelated to situation).
• Function: automatic reinforcement
• Baseline: continuous/intermittent throughout day, no clear antecedent
• Prevention: check-in; visual schedule; motivational system; preference assessments; verbal reminders; specific praise
• Replacement: FCT
• De-escalation: redirect to "whole body listening"

Goal 4: Restrictive Repetitive Behaviors

• Operational definition: Says same phrase or engages in same play scenarios repeatedly.
• Function: automatic reinforcement
• Baseline: occurs across settings, no clear antecedent
• Prevention: frontloading with visual schedule
• De-escalation: crisis vocal tone (low volume, slow speech, 3-4 word sentences); FCT for wants/needs

Communication goals (Receptive: 6 goals; Expressive: 2 goals)

All goals have target mastery criterion: 80% of opportunities across 5 consecutive sessions. Generalization criterion: 80% across different people/materials/stimuli/environments with distractors, across 6 consecutive months. All objective target dates: May 2025.

The plan explicitly leaves blank "Progress (November 2024):" and "Goal Status:" rows for each goal so that the November 2024 progress report can be filled in without having to re-write the baselines.

Receptive

1. Respond to Name — Baseline: 20% (1 in 5 times). Objective: respond by looking at speaker.
2. Receptively Identifies Familiar People — Baseline: does not consistently identify by pointing/touching/looking. Objective: identify 5 different people (parents, pets, ABA team) when asked "Where is __?" Clerical note: goal narrative contains "By May 2025, Renna will identify..." — "Renna" is a template copy-paste error; the child's name is Levi, and this is a boilerplate artifact from a prior child's treatment plan.
3. Receptively Identifies Common Objects — Baseline: does not identify independently. Objective: identify 20 different objects.
4. Identifies Body Parts — Baseline: does not identify body parts. Objective: identify 5 different body parts on self/pictures/others by pointing.
5. Following Instructions — Baseline: does not respond to 1-step routine instructions (e.g., "go get your shoes"). Objective: respond to 10 different routine 1-step instructions.
6. Pointing to Desired Object — Baseline: reaches out to grab rather than pointing. Objective: given a choice of 2 reinforcers, point to the desired one.

Expressive

1. Manding / Requesting — Baseline: inconsistent 1-word mand (e.g., "cookies"). Objective: request 5 different reinforcing items or actions using 1-2 word phrases.
2. Tacting / Labeling — Baseline: does not consistently label items/actions. Objective: identify/label 30 different items/actions.

Socialization goals (4 goals)

All same mastery/generalization criteria as above.

1. Play — Imitation with Objects — Baseline: no object imitation. Objective: imitate 1-step actions with objects (rolling, stacking, tapping, kicking).
2. Play — Imitation of Actions — Baseline: no imitation of others. Objective: imitate 1-step actions (clap, touch head, rub tummy).
3. Play — Responding — Baseline: requires maximum prompts to respond to play partners. Objective: given minimal prompts, respond to play-partner initiation.
4. Play — Cooperative Play — Baseline: hard to engage in non-preferred activities. Objective: given moderate prompts, choose from array of activities to create a daily play schedule.

Functional and adaptive goals

(The PDF is missing a "Goal 3" label between Flexibility and Coping Strategies — the numbering jumps Goal 1 → Goal 2 → Goal 4. Likely a clerical error preserving an earlier version of the template.)

1. Attention to Task — Baseline: difficult to attend to non-preferred tasks; easily distracted; often elopes. Objective: given maximum verbal prompts, attend to adult-led table activity for 5 minutes.
2. Flexibility — Baseline: rigid thinking, intense interests. Objective: given moderate prompts, demonstrate flexibility (without protest/tantrum) with unexpected changes.
3. Coping Strategies — Baseline: frustration when can't communicate; requires max prompts for calming. Objective: given moderate prompts, engage in self-calming strategies (look at book, relax in room).

Parent / caregiver training goals

1. Prompt and Prompt Fading Strategies — Baseline: parents open to coaching. Mastery: 90% across 3 activities. Generalization: 60% across 2 caregivers in multiple settings over 6 months.
2. Joint Attention — Baseline: caregivers do not prompt eye contact; will use PRT Strategies (clear attempts, contingent reinforcement, gaining attention). Same mastery/generalization criteria.

Discharge criteria (authorized in this plan)

• Parents trained to implement behavior reduction / skill acquisition programs to competency
• Levi can master new skills through incidental learning across settings
• No additional skill areas / behavioral issues identified as treatment targets

Termination conditions

• Problem behavior too severe for setting
• Parents lack follow-through ≥2 months
• Excessive cancellations
• Client fails to meet 80% of goals for 2 consecutive months during 6-month period
• Unsafe / uncomfortable / progress-inhibiting home environment
• Unable to maintain minimum recommended therapy hours

Expected discharge: TBD. Discharge date: TBD. Post-treatment recommendations: TBD.

Transition plan

Projected plan, to be modified as data is collected: when/if Levi enrolls in new school, provider will work with family and client to transition (attending IEP, sharing treatment plan with school staff, meeting with teacher if needed).

Current level of support (as documented on form)

• ☑ Maximum (filled-in black box in PDF)
• ☐ Moderate
• ☐ Minimum

Levi required Maximum support at ABA intake, consistent with the Nov 2024 progress report's ongoing Maximum-support framing.

Interpretive notes

• Establishes the formal ABA program authorization: 30 hrs/wk technician time + 3 hrs/wk BCBA supervision + 2.5 hrs/wk parent training, total 35.5 hrs/wk, 923 hrs total over the 6-month auth period.
• The eight communication goals, four socialization goals, four-ish functional goals, and two parent goals documented here become the exact goals reported on in the Nov 8, 2024 progress report — this is the treatment-plan backbone.
• Origins the "no regression of skills once learned" boilerplate — previously only traced to Nov 8, 2024. The May 12, 2024 treatment plan is the earliest source of this clerical line. It contradicts the March 8, 2024 diagnosis note, the 4/9/2026 phenotype profile, and the case narrative's confirmed regression.
• Documents elopement as a baseline behavior in the Attention-to-Task goal description ("often elopes when presented with non-preferred tasks") — an explicit contrast to the Apr 2 intake form's "Elopement = No" checkbox, reinforcing the earlier audit flag that the Apr 2 form was capturing "intentional fleeing from caregivers" rather than "elopement risk."
• Clerical errors flagged: (1) "Renna" instead of "Levi" on receptive-goal 2; (2) missing Goal 3 label in Functional/Adaptive domain (jumps 1 → 2 → 4); (3) the Apr 9 ABAS-3 transcribed here is identical to the standalone ABAS-3 PDF (not a re-administration).
• Confirms no medications at ABA intake — supplements (probiotics + NAC) are not captured on this form, though Jan 2024 and March 2024 records document them. The May 12 plan reports only prescription medications.
• VB-MAPP Test #1 = 18.5 on 04/26/2024 is the baseline reference point for the subsequent VB-MAPP Test #2 = 44.5 on 11/07/2024 (a +26 point increase that the Nov 2024 progress report treats as meaningful ABA gain).

EKG - May 24, 2024 2:46 PM (Stanford / LPCH pediatric cardiology)

Source: Stanford Heart CTR Diagnostics TIF scan of the printed 12-lead EKG report (confirmed and augmented against Stanford MyChart Test Details PDF 08).

2026-04-17 human correction. Parents note that Levi was not cooperative during this EKG acquisition, which means the tracing is not a reliable baseline. Numeric values below are what the automated read reported, but the overall result should be treated as uninterpretable / unknown for the purposes of downstream reasoning (differential weighting, QT-prolonging medication caution, etc.). Until a cooperative repeat EKG is obtained, the baseline cardiac rhythm and QTc should be considered unknown.

Order and context

• Ordering provider (full name): Trenna Sutcliffe, MD (Developmental and Behavioral Pediatrics)
• Indication on order: "Autistic disorder" (ICD-10 I49.9 arrhythmia order code)
• Interpreting cardiologist: Heather Giacone, MD (electronically signed 2024-05-25 10:45:53)
• Device / technique: HC-2-LPCH677 cart; operator AMC; 25 mm/sec paper speed; 10 mm/mV limb and chest; 60 Hz notch with 0.5-150 Hz bandwidth; standard 12-lead placement.

Resulting lab entity and patient identifiers (2026-04-17 audit addition)

• Resulting lab: IECG (cardiology reading service), Palo Alto, CA 94304
• Result status: Final
• Patient: Levi Heller, DOB 07/02/2020
• PCP of record: Sky Pittson, MD

These fields are present on the source PDF header and were not previously captured in the extraction. They are added here alongside the 2026-04-17 human-review correction (above), not in place of it. The overall interpretation remains uninterpretable / unknown per the human correction.

Structured report

• Overall interpretation: ABNORMAL ECG (Edited)
• Rhythm: sinus arrhythmia
• Prolonged QTc: 460 ms
• Heart rate 114 bpm (normal for age 3 years)
• RR 528 ms; PR 105 ms; QRS 78 ms; QT 334 ms
• P axis 80 deg; QRS axis 103 deg; T axis 47 deg
• Borderline Q waves in the inferior leads

Why this matters (revised 2026-04-17)

• Pediatric QTc is typically interpreted with 450 ms as a borderline threshold and 460 ms as abnormal. However, Levi was not cooperative during this acquisition, so the automated read is not a reliable measurement of his baseline interval.
• The order indication "Autistic disorder" documents that this EKG was obtained as a baseline around the neurodevelopmental evaluation, not in response to a cardiac symptom. That further argues for treating the result as a screening attempt that did not succeed, rather than as positive evidence of QT prolongation.
• Inferior borderline Q waves may also reflect motion artifact in a non-cooperative pediatric tracing.
• A repeat EKG was obtained on July 12, 2024 (2024-07-12-ekg-repeat.md). The follow-up report's automated read stated "OTHERWISE NORMAL" with QTcB 452 ms and explicit baseline artifact. Both tracings should now be treated as uninterpretable until a cooperative repeat is obtained.
• Downstream reasoning should treat Levi's baseline rhythm and QTc as unknown, not "borderline prolonged." Cardiology-clearance / cooperative repeat EKG remains appropriate before any QT-prolonging medication regimen, but the prior framing that there was a persistent borderline/abnormal QTc signal is not supported by the available tracings.

Quest Diagnostics ClariSure OligoSNP Chromosomal Microarray

A clinical chromosomal microarray (CMA) ordered to evaluate Levi for copy-number variants (CNVs) and regions of homozygosity (ROH) contributing to autism spectrum disorder. Result: NORMAL MALE MICROARRAY. No reportable CNVs or ROH detected. arr(X,Y)x1,(1-22)x2.

This is the first (and to date only) standalone chromosomal microarray in Levi's workup. It does not supersede the higher-resolution CNV calling from the 2025-05-29 Stanford trio clinical exome and the 2026-01-29 GeneDx trio genome; it is an independent earlier confirmation that the SNP-array class of assay sees no clinically reportable structural/copy-number finding, including at imprinted loci and large ROH blocks.

Ordering context

• Collected: May 24, 2024 at 14:10 (same venous draw day as the Stanford May 2024 initial workup and the first EKG)
• Received by Quest: May 25, 2024 at 13:05
• Reported: June 5, 2024 at 20:56 (electronic signature 06/05/2024 11:22 PM)
• Clinical indication: ASD
• Send-to address: Lucile Packard Children's Hospital (LPCH), 300 Pasteur Drive, ATTN Clin Lab H1524, Stanford CA 94305
• Ordering/referring physician: Hurley, Christine
• Order ID: 24-250444
• Accession: 97373873
• Patient ID on report: 52354446

The fax cover sheet preserved at the top of the 3-page PDF is dated 10/30/2024 12:51 PM, fax #6504886144, addressed to Elise / Dr Sutcliffe from SHC Fax Server 101 — i.e., the family or Sutcliffe Clinic faxed this result to Dr. Sutcliffe's office about 5 months after reporting. The "DUPLICATE" status on the Quest header is consistent with this being a re-print/re-fax of the original June 2024 report.

Result

NORMAL MALE MICROARRAY RESULT

Nomenclature: arr(X,Y)x1,(1-22)x2

Interpretation

No reportable copy number variants or regions of homozygosity were detected.

Recommendations

Correlation with clinical findings and other laboratory results is recommended.

For more information, healthcare providers may call Quest Genomic Client Services at 866-GENEINFO (866-436-3463).

Assay

• Test ordered: ClariSure OligoSNP, Pstntl (postnatal)
• Method: Oligonucleotide-SNP (Affymetrix)
• Platform: Affymetrix CytoScan HD assay
• Resolution: 1.15 kb
• Number of probes: 2.67 million (1.9 million copy-number probes + 750,000 SNP probes)
• Average inter-probe distance: 1,150 bp
• Genome assembly: GRCh37/hg19 (Feb. 2009)
• Specimen type: Blood

Laboratory-established reporting thresholds (per report body)

• CNVs (classified as likely pathogenic or pathogenic): reported generally at any size
• CNVs classified as VUS: reported if >200 kb for losses (deletions) and >500 kb for gains (duplications)
• Likely benign / benign CNVs: not reported
• ROH: reported if the overall level of homozygosity is ≥2% of the genome (~58 Mb). In addition, generally: single terminal ROH >5 Mb and single interstitial ROH >10 Mb for imprinted chromosomes or >15 Mb for nonimprinted chromosomes are reported.
• CNVs limited to autosomal recessive disease genes are not reported unless deemed appropriate by the director.
• Clinical-significance thresholds for variant calling: >50 kb for losses, >200 kb for duplications, and >5 Mb for ROH (per comments-continued section). "These thresholds may be lower in regions of known clinical significance."

Explicit assay limitations (verbatim from report)

• Does not detect single nucleotide variants (SNVs)
• Does not detect insertions/deletions (indels)
• Does not detect balanced rearrangements (translocations, inversions)
• Does not detect copy number gains/losses below the platform's resolution limit
• Does not reliably detect mosaicism ← directly relevant to the mosaic mTORopathy hypothesis
• Classification reflects understanding at the time of report; re-review recommended before clinical decisions.
• For patients interested, Quest recommends registering de-identified data with GenomeConnect (https://GenomeConnect.org), operated by ClinGen.

Laboratory

• Performing lab: Quest Diagnostics, Inc. — Nichols Institute, 33608 Ortega Hwy, San Juan Capistrano, CA 92675
• Client services: (800) 553-5445
• Director: Irina Maramica, MD, PhD
• Reporting scientist (electronic signature): Guang Li, PhD, FACMG — (800) NICHOLS-4307

Interpretive notes

• NEGATIVE CMA at standard clinical resolution (CytoScan HD, 1.15 kb, 2.67M probes). Large structural/copy-number etiologies for ASD are effectively ruled out at this level of analysis.
• No reportable ROH means no ≥2% total homozygosity, which argues against large blocks of identity-by-descent (i.e., consanguinity or uniparental disomy large enough to trigger the reporting threshold). Small UPD or imprinting abnormalities below thresholds are NOT excluded.
• Mosaicism is explicitly NOT ruled out by this assay. This is the key limitation for Levi's case: the mosaic mTORopathy hypothesis (PIK3CA, AKT1, MTOR, TSC1/TSC2) would require a different modality (deep short-read sequencing of brain/buccal tissue, UPD-specific testing, or mosaic-capable targeted panels).
• SNVs and indels are explicitly NOT evaluated by this assay — complementary sequencing was performed later (2025-05-29 Stanford trio clinical exome, 2026-01-26 GeneDx mitochondrial genome, 2026-01-29 GeneDx trio genome, 2026-04-09 GeneDx genome reanalysis), all negative.
• Closes the open case-overview gap stating "CMA coverage from the trio WGS CNV calling should be explicitly confirmed." The trio WGS CNV calling on the 2026-01-29 GeneDx genome is a separate line of evidence; this 2024 standalone CMA is an independent parallel negative result.
• Referring physician Hurley, Christine is likely the LPCH clinician who ordered the CMA around the time of the May 2024 Stanford workup; she is distinct from Dr. Trenna Sutcliffe (the diagnosing developmental pediatrician) and Dr. Pittson (the family's primary pediatrician per the Jan 2024 Sutcliffe intake). The providers.yaml directory should be reconsidered to capture Dr. Hurley.

Initial Stanford workup - May 24, 2024

Composite extraction of Stanford MyChart Test Details PDFs 01-07 and 09, all from the same May 24, 2024 blood draw and a separate same-day urine collection. Source documents correspond to Stanford Health Care / Lucile Packard Children's Hospital (LPCH). Authorizing provider on every PDF: "Lpch Unknown Physician, MD". Resulting lab: SHC Unsolicited (300 Pasteur Drive, Palo Alto, CA 94305). Performing lab for most panels: SHC Lab-Hospital Laboratory (same address). Lab Director: Daniel A. Arber, MD. Performing Director: Dr. Christina Kong. Fragile X interpreted by J. Zehnder, MD.

MyChart PDF 08 (EKG, May 24, 2024) is captured separately in 2024-05-24-ekg-prolonged-qtc.md because it is a cardiac study rather than a blood lab.

Tests collected on this date

Fragile X (MyChart 01)

• Result: NEGATIVE
• CGG repeats: 33 (normal <44)
• Method: 3-primer PCR assay capable of detecting CGG repeat expansions up to approximately 200 CGG repeats. Specimen: whole blood, EDTA.
• Interpreted by: J. Zehnder, MD
• Result date: June 03, 2024 6:50 PM (Fragile X has a longer turnaround than the chemistry panels)
• Interpretation: Normal. No expanded CGG repeat detected in the FMR1 gene. Does not detect large CGG repeat expansions greater than ~200 repeats, AGG interruptions, or FMR1 point mutations/deletions.

Lead level (MyChart 02)

• Lead (blood): <2.0 ug/dL (reference <3.5 ug/dL)
• Source of collection: Blood, Venous
• Result date: May 31, 2024 7:59 AM
• Interpretation: Normal. Public-health reportable threshold is ≥3.5 ug/dL.

CBC with auto-differential (MyChart 03) — result May 24, 2024 6:42 PM

• WBC: 9.4 K/uL (ref 6.0-17.0 per LPCH age band — prior record had an incorrect 4.5-13.5 range)
• RBC: 5.06 M/uL (ref 3.90-5.30)
• HGB: 12.2 g/dL (ref 11.5-13.5)
• HCT: 38.7% (ref 34.0-40.0)
• MCV: 76.5 fL (ref 75.0-87.0) — low-normal
• MCH: 24.1 pg (ref 24.0-30.0) — low-normal
• MCHC: 31.5 g/dL (ref 31.0-37.0)
• RDW: 14.2% (ref 11.5-14.5)
• Platelets: 370 K/uL (ref 150-400)
• Neutrophil %: 43.9%
• Lymphocyte %: 43.3%
• Monocyte %: 10.2%
• Eosinophil %: 1.8%
• Basophil %: 0.7%
• Immature granulocyte %: 0.1% (ref 0.0-0.3)
• Neutrophil absolute: 4.1 K/uL (ref 1.5-8.5)
• Lymphocyte absolute: 4.05 K/uL (ref 3.0-9.5)
• Monocyte absolute: 0.95 K/uL HIGH (ref 0-0.50)
• Eosinophil absolute: 0.17 K/uL (ref 0-0.3)
• Basophil absolute: 0.07 K/uL (ref 0-0.25)
• Immature granulocyte absolute: 0.01 K/uL (ref 0-0.03)
• nRBC absolute: 0.00 K/uL
• nRBC %: 0.0%

Basic Metabolic Panel (MyChart 04) — result May 24, 2024 6:33 PM

• Sodium: 136 mEq/L (ref 135-145)
• Potassium: 4.8 mEq/L (ref 3.5-5.5)
• Chloride: 105 mEq/L (ref 98-107)
• CO2: 20 mEq/L LOW (ref 22-29). PDF footnote: specimens with triglycerides >1000 mg/dL can have a falsely low bicarbonate.
• Anion gap: 11 mEq/L (ref 5-15)
• Glucose: 93 mg/dL (ref 70-100 fasting; non-fasting ranges not established on this assay — footnote present)
• BUN: 7 mg/dL (ref 5-18)
• Creatinine: 0.26 mg/dL (ref 0.26-0.42 for this age band; IDMS-traceable. PDF footnote: falsely elevated by catecholamines and N-acetylcysteine.)
• eGFR: not reported (age <18 years — assay not validated in pediatrics)
• Calcium: 9.5 mg/dL (ref 8.8-10.8)

Iron / TIBC / Transferrin saturation (MyChart 05) — result May 24, 2024 6:33 PM

• Iron: 78 ug/dL (ref 53-119; toxic >350)
• TIBC: 390 ug/dL (ref 250-425)
• Transferrin saturation: 20% (ref 20-60) — at the lower cutoff

Ferritin (MyChart 06) — result May 24, 2024 6:33 PM

• Ferritin: 35.6 ng/mL (ref 30-400). PDF footnote: biotin supplementation >5 mg/day within the preceding 12 hours can interfere with this immunoassay.

Serum osmolality (MyChart 07) — result May 24, 2024 6:14 PM

• Serum osmolality: 295 mOsm/kg (ref 285-310)

Urine osmolality (MyChart 09) — separate specimen

• Specimen: urine, voided
• Collection time: May 24, 2024 3:07 PM (distinct from 2:10 PM blood draw)
• Result date: May 24, 2024 5:07 PM
• Urine osmolality: 480 mOsm/kg (ref 300-900)

Interpretive notes

• The mild monocytosis and mild low CO2 are both nonspecific but persist in later draws.
• Transferrin saturation at 20% is at the lower cutoff; MCV 76.5 and MCH 24.1 are already low-normal, suggestive of early iron-deficient / microcytic erythropoiesis despite normal hemoglobin. This pattern evolves toward frank microcytosis in the January 2026 draw (MCV 74.5).
• Fragile X explicitly negative — decision-relevant because Fragile X is a common genetic cause considered in autism + regression presentations. The 3-primer PCR does not resolve AGG interruptions or FMR1 point mutations.
• Lead explicitly low (<2.0 ug/dL) — rules out overt lead toxicity as a driver of regression at this timepoint.
• CBC WBC reference range corrected: prior record extraction listed 4.5-13.5 K/uL, but the LPCH age-banded range on the source PDF is 6.0-17.0 K/uL. The absolute WBC value (9.4) is unchanged and remains within range on both scales.

EKG - July 12, 2024 11:31 AM (Stanford / LPCH pediatric cardiology)

Source: Stanford Heart CTR Diagnostics TIF scan of the printed 12-lead EKG report (follow-up to the May 24, 2024 study; confirmed and augmented against Stanford MyChart Test Details PDF 10).

2026-04-17 human correction. Parents note that Levi was not cooperative during either the May 2024 or July 2024 EKG acquisitions. The tracing below carries a documented "baseline artifact" read, which is consistent with a non-cooperative pediatric capture. This EKG should be treated as uninterpretable / unknown for baseline-rhythm and QTc assessment. Numeric values are preserved below as the automated read recorded them, but should not be used as positive evidence of a borderline QTc signal.

Order and context

• Ordering provider (full name): Trenna Sutcliffe, MD (Developmental and Behavioral Pediatrics)
• Indication on order: "Autistic disorder" (ICD-10 I49.9 arrhythmia order code)
• Interpreting cardiologist: Henry Chubb, MD (electronically signed 2024-07-12 22:53:28)
• Device / technique: HC-2-LPCH677 cart; operator rca; 25 mm/sec paper speed; 10 mm/mV limb and chest; 60 Hz notch with 0.5-150 Hz bandwidth; standard 12-lead placement.
• Report explicitly references "Previous Study 24-May-2024 - Abnormal Confirmed."

Resulting lab entity and patient identifiers (2026-04-17 audit addition)

• Resulting lab: IECG (cardiology reading service), Palo Alto, CA 94304
• Result status: Final
• Patient: Levi Heller, DOB 07/02/2020
• PCP of record: Sky Pittson, MD

These fields are present on the source PDF header and were not previously captured in the extraction. They are added here alongside the 2026-04-17 human-review correction (above), not in place of it. The overall interpretation remains uninterpretable / unknown per the human correction.

Structured report

• Overall interpretation: OTHERWISE NORMAL ECG (Edited)
• Rhythm: sinus rhythm
• QTcB: 452 ms (Bazett; still near pediatric borderline-abnormal cutoff)
• Heart rate 130 bpm (normal for age 4 years)
• RR 468 ms; PR 100 ms; QRS 73 ms; QT 309 ms
• P axis 74 deg; QRS axis 100 deg; T axis 48 deg
• Baseline artifact noted

Signed by: Henry Chubb, MD.

Why this matters (revised 2026-04-17)

• Both the May 2024 and July 2024 EKGs were captured with Levi not cooperative; documented baseline artifact on the July tracing is consistent with that account. Treat the recorded 460 → 452 QTcB pattern as uninterpretable, not as evidence of a persistent borderline QTc signal.
• Levi's baseline cardiac rhythm and QTc should be considered unknown until a cooperative repeat EKG is obtained.
• A cooperative repeat EKG remains appropriate as routine cardiology clearance before any QT-prolonging medication regimen (e.g. some antiepileptic, immunomodulatory, or psychopharm agents), but the rationale is now standard pre-treatment screening rather than responding to a positive prior finding.
• Henry Chubb, MD is recorded in content/providers/providers.yaml as a Stanford / LPCH pediatric electrophysiologist and remains a reasonable contact for arranging a cooperative repeat EKG.

Sutcliffe Clinic — ABA Progress Report

Report date: November 8, 2024. Age at report: 4 years 4 months. Treatment start: May 9, 2024. Current authorization period: 11/09/2024 – 05/09/2025.

2026-04-17 audit note on authorization period. The PDF header reads "Authorization Period: 11/09/2024 - 05/09/2024", which is internally backwards (the end date is before the start date). The corrected intended reading — 11/09/2024 - 05/09/2025 (6-month authorization from the Nov 2024 start) — is used throughout this record. The PDF inconsistency is preserved here for provenance.

Team

• Diagnosing provider: Dr. Trenna Sutcliffe, MD, MS, FAAP, FRCPC
• Case manager / BCBA: Grace Backhaus, M.Ed., BCBA (BCBA #1-23-68088, grace@sutcliffedbp.com, 650-492-7751)

Insurance and address

• Insurance: Anthem Blue Cross, Member ID JQU165A22522
• Family address at time of report: 396 Raymundo Drive, Woodside, CA 94062

Assessments

ABAS-3 (Adaptive Behavior Assessment System, 3rd Ed.), completed by mother 11/05/2024

Scaled-score domain details (age equivalents):

At chronological age 4 years 4 months, adaptive age-equivalents are 1–2.9 years, a ≥2-year gap across every domain. The Social domain scaled score of 1 (age equiv 1:0–1:1) is particularly severe.

VB-MAPP (Verbal Behavior Milestones Assessment and Placement Program), Grace Backhaus BCBA

• Test #1 (04/26/2024): 18.5
• Test #2 (11/07/2024): 44.5

Meaningful progress over 6 months (18.5 → 44.5), though still well below age-appropriate Level 3 milestones.

Behavior targets (summary)

1. Noncompliance/avoidance — 0–6 instances/day in November 2024; downward trajectory.
2. Sensory-seeking hitting — 0–35 instances/session; variable.
3. Vocal stereotypy — 0–45 instances/session.
4. Restrictive/repetitive behaviors — 0–15 instances/session.

Communication goals (2026-04-17 audit: expanded to per-goal structure)

1. Respond to Name — Baseline: inconsistent. Current: MET (100% across 5 consecutive sessions).
2. Receptively Identify Familiar People — Baseline: 0 people identified. Current: 80% across 5 sessions for BT (behavior technician) identification; 4 ABA team members now identified.
3. Identify Body Parts — Baseline: 0/10 body parts. Current: belly 30%, knees 18%, head 8%. Status: in progress.
4. Following 1-Step Instructions (without travel) — Baseline: requires full physical prompt. Current: 40% with moderate prompts.
5. Pointing to Desired Object — Status: not yet formally introduced.
6. Manding / Requesting (2-word phrases) — Baseline: single-word mand with max prompting. Current: 40% with minimal prompts for 2-word mands.
7. Greetings (hi + eye contact) — Baseline: no response. Current: 80% with moderate prompts.
8. Tacting / Labeling — Status: not yet formally introduced.

Socialization / Play goals (2026-04-17 audit: expanded)

1. Play — Imitation with Objects — Baseline: 0 imitation. Current: 80% with moderate prompts.
2. Play — Imitation of Actions — Baseline: 0 imitation. Current: 40% independent.
3. Play — Responding to peer/adult play initiation — Baseline: no response. Current: 100% with maximum prompts.
4. Play Schedule (2-activity) — Baseline: refuses transition. Current: 80% with moderate prompts.

Functional / Adaptive goals (2026-04-17 audit: expanded)

1. Attention to Task (3 min, adult-led) — Baseline: ~30 seconds. Current: 80% with maximum prompts.
2. Flexibility (accepting changes in routine) — Baseline: resistance with elopement. Current: 80% across 3 opportunities.
3. Coping Strategies / Self-calming — Baseline: escalation-only. Current: 40% with minimal prompts.
4. Tolerating Delayed Access (up to 2 min) — Baseline: immediate escalation. Current: 80%.
5. Tolerating Denied Access — Baseline: immediate escalation. Current: 80% across 2 opportunities.
6. Regulation / Whole-Body Listening (3 min) — Baseline: <30 seconds. Current: 40%.

Parent training goals (2026-04-17 audit addition)

1. Prompt and Prompt Fading Strategies — in progress; parents trained on least-to-most prompting hierarchy.
2. Joint Attention — in progress; parents coached on contingent responding during shared-object play.

VB-MAPP Level 1/2/3 milestone detail (2026-04-17 audit addition)

The 11/07/2024 VB-MAPP assessment (score 44.5) documented milestone progress across 13 domains spanning Levels 1–3. Level-band breakdown per Grace Backhaus BCBA, on the PDF:

• Mand (requesting)
• Tact (labeling)
• Listener Responding
• Visual Perceptual Skills / Matching to Sample
• Independent Play
• Social / Social Play
• Motor Imitation
• Echoic
• Spontaneous Vocal Behavior
• Listener Responding by Function, Feature, Class (LRFFC)
• Intraverbal
• Classroom / Group Skills
• Linguistic Structure

Total score 44.5 across the 13 domains. Detailed domain-by-domain scoring is on pages 7-12 of the PDF (per-milestone mark / half-mark / no-mark notation per standard VB-MAPP protocol). Not transcribed into this record cell-by-cell; the composite score and the domain list are captured here for searchability. The full VB-MAPP protocol tables are available on the source PDF.

Behavior-tracking graphs (2026-04-17 audit addition)

The PDF includes four behavior-tracking line graphs spanning the May - November 2024 period:

1. Noncompliance — plotted daily counts. Downward trajectory from May highs to Nov lows (0-6/day by November).
2. Sensory Seeking Hitting — plotted per-session counts. Variable throughout, 0-35/session.
3. Vocal Stereotypy — plotted per-session counts. Variable, 0-45/session.
4. Restrictive / Repetitive Behaviors — plotted per-session counts. 0-15/session.

Graphs are visual-only on the source PDF; the numeric ranges are captured in the Behavior Targets section above and on the graph pages.

Discharge plan (2026-04-17 audit addition)

The PDF includes a discharge-planning section:

• Discharge criteria: sustained achievement of clinical goals with generalization across environments; reduction of target behaviors to pre-clinical-concern thresholds; parent-reported satisfaction with independence in targeted domains.
• Termination conditions: lack of progress over an extended period despite treatment modifications; family decision to discontinue; transition to a higher or lower level of care.
• Expected discharge date: not a fixed date; reassessed at each 6-month authorization cycle.
• Transition plan: coordinated with school district, speech, OT, and preschool providers. Expected continued need for special-education services and community-based supports post-ABA discharge.

Services

• Sutcliffe Clinic ABA (in-clinic + 2 home sessions/wk; recommended 30 hrs 97153, 3 hrs 97155, 2.5 hrs 97156, 6 hrs 97151 assessment).
• Speech therapy: Speachy Learning Center, 2x/wk (1 hr/wk total).
• Occupational therapy: private provider, 45 min/wk.
• Equine-facilitated therapy: NCEFT (National Center for Equine Facilitated Therapy), 30 min/wk.
• Preschool: Woodside Preschool, 4 hrs/day, Mon–Fri.

Meds at report

• None. The March 2024 note documents probiotics + NAC; the November 2024 progress report states "no medications at this time."

Discrepancy flag

The report states "no regression of skills once learned." 2026-04-18 audit update: this exact wording actually originates in the May 12, 2024 ABA Initial Treatment Plan biopsychosocial section authored by BCBA Grace Backhaus, and is copied forward verbatim into this Nov 2024 progress report. It is not an independently parent-verified claim — it is clinic-authored boilerplate that persisted across the two plan documents. This contradicts: (1) the March 8, 2024 Sutcliffe diagnostic note ("regression at ~2.75 years"), (2) the Jan 24, 2024 parent intake free-text describing speech/engagement regression around 2.75y, and (3) the current case narrative (documented regression at ~2.5 years). The May 2024 + Nov 2024 "no regression" wording does not override the records that document regression.

Follow-up labs - March 3, 2025

Composite from Stanford MyChart Test Details PDFs 11-15, all collected same draw Mar 3, 2025 4:05 PM. Authorizing provider Trenna S (NP/PA). Resulting lab SHC Unsolicited (300 Pasteur Drive, Palo Alto, CA 94305); Lab Director Daniel A. Arber, MD; Performing Director Dr. Christina Kong. Most panels performed at SHC Lab-Hospital Laboratory (300 Pasteur); vitamin D performed at SHC Lab-Hillview (3375 Hillview Ave, Palo Alto 94304).

Results

Vitamin D, 25-hydroxy (MyChart 11) — resulted Mar 06, 2025 12:18 PM

• 25-OH Vitamin D Total: 37 ng/mL (reference 25-80 ng/mL per SHC-Hillview assay; prior record recorded 30-100 which is an incorrect range)
• Performing lab: SHC Lab-Hillview.

Transferrin saturation / iron studies (MyChart 12) — resulted Mar 05, 2025 7:39 PM

• Iron, Total: 45 ug/dL LOW (ref 53-119; toxic >350)
• TIBC: 371 ug/dL (ref 250-425)
• Transferrin saturation: 12% LOW (ref 20-60)
• Trajectory: compared to May 2024 (Iron 78, Trsn Sat 20%), iron status is clearly worsening toward overt iron deficiency.

Vitamin B12 (MyChart 13) — resulted Mar 05, 2025 7:39 PM

• Vitamin B12: 908 pg/mL (ref 232-1,245). PDF footnote: biotin (commonly found in multivitamins, hair/nail supplements, workout supplements) is a potential interferent; repeat testing after a 12-hour biotin washout if the result does not match clinical observations.

TSH (MyChart 14) — resulted Mar 05, 2025 7:39 PM

• TSH: 2.07 uIU/mL (ref 0.70-5.90). PDF note: reformulated assay, not significantly altered at biotin concentrations up to 1,200 ng/mL.

CBC (MyChart 15) — resulted Mar 05, 2025 7:34 PM

Indices only — no differential was run on this draw.

• WBC: 5.1 K/uL LOW (ref 5.5-15.5; was 9.4 in May 2024)
• RBC: 5.32 M/uL HIGH (ref 3.90-5.30)
• HGB: 12.4 g/dL (ref 11.5-13.5)
• HCT: 39% (ref 34.0-40.0)
• MCV: 73.3 fL LOW (ref 75.0-87.0)
• MCH: 23.3 pg LOW (ref 24.0-30.0)
• MCHC: 31.8 g/dL (ref 31.0-37.0)
• RDW: 12.8% (ref 11.5-14.5)
• Platelets: 389 K/uL (ref 150-400)
• Pattern: microcytic hypochromic indices with high-normal RBC mass — classic early iron-deficient erythropoiesis even though hemoglobin remains within range.

Interpretive notes

• Iron status has clearly declined between May 2024 and March 2025; the 2024 ferritin (35.6 ng/mL, at the low end) was not rechecked here.
• No oral iron supplementation is documented in this record; downstream clinical history should reconcile whether an iron trial was started around this time.
• Thyroid and B12 were reassuring.
• Vitamin D reference range correction: prior extraction recorded the normal range as 30-100 ng/mL, but the source PDF shows 25-80 ng/mL. The absolute value (37) remains normal on both scales. This is the range that Stanford's SHC-Hillview assay uses; other assays may report a different range.
• CBC on this draw is indices-only — no differential (no per-cell-type percentages or absolutes). This is a deliberate limitation of this order, not an extraction gap.

Tiny Health Gut Microbiome Test - Kit VCJ143

• Patient: Levi Heller (DOB 2020-07-02, male)
• Kit ID: VCJ143; System version 4.8.1
• Sample collected: May 21, 2025
• Sequence sample received: June 2, 2025
• Sequence results ready: June 19, 2025
• Report generated: February 4, 2026
• Lab: Tiny Health, 6104 Old Fredericksburg RD #91622, Austin TX 78749 (CLIA 21D2062464)
• Lab Director: Carlos J. Ruiz, MD
• Method: Shotgun metagenomic sequencing (detects bacteria, viruses, fungi, archaea, parasites at strain-level precision)

Disclaimer: Tiny Health is a wellness-use test, not FDA-cleared for diagnosis. Interpret findings as hypothesis-generating signals.

Microbiome Summary Score

• Overall score: 83 / 100 (above-median band; "healthy" cohort Tiny Health reference)

Headline flags from the report

Tiny Health flagged 3 items needing support and 1 needing improvement:

All opportunistic pathogens otherwise undetected: Klebsiella, Salmonella, Clostridioides difficile, Enterococcus faecium/faecalis, Pseudomonas aeruginosa, Helicobacter pylori, Campylobacter, Vibrio, parasites (Blastocystis, Cryptosporidium, Entamoeba, Giardia, Cyclospora), and all fungal genera screened (Candida, Aspergillus, Saccharomyces, etc.) all at 0.000% (at or below detection floor 0.005%).

Key structured findings

Diversity & resilience

• Shannon diversity 5.75 (reference 4.6-5.9; within healthy band).
• Species richness 423 species (above median 90-145; high).
• Gut resilience score 0.48 (reference 0.431-0.556).
• Oral microbes in the gut 0.023% (normal, low).
• Gut type classified as Other (high diversity, not dominated by any single driver genus).
• Microbiome Breakdown: 61% beneficial / 26% variable / 0% unfriendly / 12% unknown.

Major phyla

• Firmicutes 55.92%
• Bacteroidota 22.74%
• Actinobacteriota 15.15% (high vs. reference 1.6-3.8%, driven by Bifidobacterium 8.48% and Collinsella species)
• Proteobacteria 0.82% (low - favorable)
• Fusobacteriota 0.00%

Short-chain fatty acid producers

• Butyrate capacity 1051 rpkm (reference 887-1220; mid-normal).
• Propionate capacity 635 rpkm (reference 549-720; mid).
• Acetate capacity 792 rpkm (reference 711-950; mid).
• Faecalibacterium prausnitzii (all variants combined) ~5.36% (good).
• Roseburia 0.399% (within healthy band).

Gut barrier & inflammation

• Mucus degradation index 9.31 (reference 8.57-11.5; low-normal, favorable).
• Hexa-LPS index 9.63 (reference 9.63-10.1; at low end = fewer hexa-acylated LPS producers = less pro-inflammatory LPS load; favorable).
• Hydrogen sulfide index 9.18 (reference 9.15-11.3; low-normal, favorable).
• Host DNA 0.063% (normal).

Digestive capacity

• Fiber digestion capacity:
  • Cellulose 1212 rpkm (above reference 947-1060; high)
  • Resistant starch 3510 rpkm (above reference 2720-2900; high)
  • Pectin 349 rpkm (above reference 202-234; high)
  • Chitin 604 rpkm (above reference 456; high)
• Complex sugar digestion:
  • Fructooligosaccharides 647 rpkm (above reference 525-574; good)
  • Galactooligosaccharides 1704 rpkm (above reference 1060-1140; high)
  • Xylooligosaccharides 184 rpkm (below-median within reference 179-209)
  • Isomaltooligosaccharides 26.3 rpkm (above reference 7.97-10.9; high)
• Vitamin production capacity all high-normal (B2, B7, B9, B12, K).

Microbial enzymes & metabolites

• GABA production 42.47 rpkm (elevated; beneficial as a neuroactive signal).
• GABA breakdown 0.00 rpkm.
• Histamine-producing species 0.000% (no histamine-driving taxa detected; reassuring for mast-cell-adjacent hypotheses).
• Beta-glucuronidase capacity 2602 rpkm (within reference 2000-3800).
• Trimethylamine 0.00 rpkm.
• Ammonia-production 1845 rpkm (within reference 1800-2390).
• Secondary bile acids 15.5 rpkm (reference 9.92-17.8; normal).
• Mitochondrial Health Support (urolithin-producing species) 0.420% (reference 0.041-0.578%; mid-high band).

Key beneficial genera / species (top of stack)

• Phocaeicola vulgatus 9.692%
• Blautia (genus) 9.696%
• Bifidobacterium (genus) 8.477%; B. longum 2.975%, B. bifidum 2.066%, B. adolescentis 2.423%, B. breve 0.063%, B. infantis 0.045%
• Ruminococcus (genus) 7.041%
• Bacteroides (genus) 6.036%
• Akkermansia muciniphila 5.301%
• Fusicatenibacter saccharivorans 5.190%
• Faecalibacterium prausnitzii_D 4.356% (plus other prausnitzii variants)
• Blautia_A massiliensis 3.770%
• Bacteroides uniformis 3.627%
• Ruminococcus_D bicirculans 3.539%
• Prevotella (genus) 2.317% including P. copri 2.085%
• Anaerobutyricum hallii 1.675%

Disruptive / pathogen markers

• Antibiotic resistance abundance index 0.01 (reference 0.003-0.047; low).
• Antibiotic resistance richness index 0.09 (reference 0.055-0.21; low-mid).
• Escherichia coli 0.014% (very low; no virulent E. coli variants detected).
• Ruminococcus gnavus 0.151% (low; Crohn's-associated species is not overgrown).
• Clostridium perfringens 0.013% (very low).
• Streptococcus (genus) 0.410% including S. salivarius 0.087%, S. sp001556435 0.253%; within tolerated range.
• Staphylococcus (genus) 0.015% - only disruptive flag; clinically this is still a very low relative abundance.

Why this matters for Levi

Supports

• Broad picture is that of a high-diversity, butyrate-producing, low-LPS, low-histamine, no-pathogen gut in May 2025 (~4 years and 10 months old, a few months before the January 2026 hospitalization). Argues against a gross dysbiotic driver (e.g., overt C. difficile, Klebsiella/Proteobacteria bloom, histamine-producer overgrowth, candidiasis, or parasitic infection) at that time.
• Histamine-producing species 0.000% reduces plausibility of microbiome-driven mast-cell / histamine phenotype as a primary driver of the neuroregression trajectory.
• Absent H. pylori and normal hydrogen-sulfide index make a primary gastritis or sulfide-toxic-gas enteric driver unlikely.
• Strong Bifidobacterium signature (8.5% including B. longum, B. bifidum, B. adolescentis, B. breve, B. infantis) is consistent with an infant-to-toddler microbiome that retained Bifidobacterium well into toddlerhood - not a pattern typically seen in heavy-antibiotic-exposed children.
• Good GABA production and absent GABA breakdown is net-supportive of neuro-inhibitory tone from the gut.

Against / flags that matter

• Akkermansia muciniphila 5.3% is meaningfully overabundant (roughly 1.5-7x typical reference median). In adult research, Akkermansia is often beneficial; but in pediatric contexts, very high Akkermansia has been linked in the literature to mucus-layer over-consumption and eczema, and some emerging work ties Akkermansia overgrowth to altered mucin turnover and barrier dynamics. Worth tracking, not a clear cause.
• Actinobacteriota 15.15% vs. reference 1.6-3.8% is unusually high, largely from Bifidobacterium + Collinsella. Many Collinsella species are variable; high Collinsella has been associated with metabolic syndrome in adults and higher adiposity in some infants, but its role in neurodevelopment or autoimmunity is not established.
• Staphylococcus 0.015% is a very minor flag.
• Xylooligosaccharides digestion below-median is a low-weight finding.

Context

• This is a single time point from May 2025, nine months before Levi's January 16, 2026 hospitalization (leukocytosis 24.2, regression). It does not reflect the microbiome state at the time of the acute event or thereafter - by April 2026 he would have had multiple exposures (antibiotics, IVIG, etc.) that reshape the microbiome. A repeat test post-acute-event would be higher-yield for causal inference.
• This test is a wellness-grade assay; findings should be corroborated by clinical labs if any treatment decision hinges on them.

Follow-up candidates

• Consider a repeat Tiny Health kit or clinical stool-metagenomics panel now (2026) to compare pre- vs. post-regression microbiome state.
• If Akkermansia-targeted interpretation is pursued, review pediatric literature on A. muciniphila overgrowth (goblet-cell mucin turnover, eczema/AD signal).
• Note that this report contains no stool calprotectin, lactoferrin, elastase, short-chain fatty acid direct measurement, or secretory IgA - those remain gaps if GI/immune involvement is suspected.

Father's Clinical Exome Sequencing (Stanford Trio component)

This MyChart scan documents the Stanford Clinical Genomics Service order/result for Jacob Heller (biological father) as the paternal trio component of the proband's trio exome. The substantive result is combined into the proband's report.

• Test name: Clinical Exome Sequencing (trio, paternal sample)
• Laboratory: Stanford Clinical Genomics Service
• Authorizing provider: Melanie Ann Manning, MD
• Genetic counselor: Devon Bonner, MS, LCGC
• Family ID: F-05345
• Related proband record: content/vault/records/2025-05-29-genetics-stanford-trio-exome.md

The scan does not report variants specific to the father beyond what is already summarized in the proband's combined trio report. No secondary findings were returned.

Mother's Clinical Exome Sequencing (Stanford Trio component)

This MyChart scan documents the Stanford Clinical Genomics Service order/result for Miki Heller (biological mother) as the maternal trio component of the proband's trio exome. The substantive result is combined into the proband's report.

• Test name: Clinical Exome Sequencing (trio, maternal sample)
• Laboratory: Stanford Clinical Genomics Service
• Authorizing provider: Melanie Ann Manning, MD
• Genetic counselor: Devon Bonner, MS, LCGC
• Family ID: F-05345
• Related proband record: content/vault/records/2025-05-29-genetics-stanford-trio-exome.md

The scan does not report variants specific to the mother beyond what is already summarized in the proband's combined trio report. No secondary findings were returned.

Stanford Clinical Genomics — Trio Clinical Exome Sequencing

Report date: May 29, 2025 (print date/time 5/29/2025 5:55 PM). Collection date: March 5, 2025 14:28; received 15:15. Resulted at GIMS 5/29/2025 17:55. Report prepared by Jessica Chonis, MGC, LCGC on 03/27/2025, finalized by Stuart A. Scott, PhD, FACMG on 05/29/2025.

Ordering team

• Authorizing physician: Melanie Ann Manning, MD — Stanford Medical Genetics (referring physician)
• Referring facility: Stanford Medical Genetics
• Copy To: Devon Bonner, MS, LCGC (Stanford Medical Genetics genetic counselor)
• Laboratory: Stanford Clinical Genomics (GIMS) — 3375 Hillview Avenue, Palo Alto CA 94304
• Laboratory Director (report cover): Christina Kong, MD
• Laboratory Director (GIMS resulting lab footer): April Young
• CLIA #: 05D1038598
• Contact: 650-497-6500 (phone) / 650-724-3064 (fax) / stanfordcgp@stanfordhealthcare.org

Identifiers

• Accession (Lab Accession ID): G25-5346
• Family ID: F-05345
• Specimen ID: 25S-064MP0023
• Specimen type: Blood (from venipuncture)
• Proband: Levi Heller (DOB 07/02/2020, MRN 52354446, Male)
• Mother: Miki Heller (biological)
• Father: Jacob Heller (biological)
• Family members included on requisition: Exome sequencing, Father, Mother (trio)

Clinical indication

"Autism, speech delay and possible overgrowth"

Primary result

UNINFORMATIVE — "Established or likely causes of the indication for testing were not identified."

Primary result summary (verbatim): "Exome sequencing did not identify any variants with an established or likely role in the clinical features observed in this individual."

Secondary findings

"Exome sequencing did not identify any secondary findings in this individual." Secondary findings are variants unrelated to the indication for testing that meet a minimum level of clinical validity and utility and are potentially medically actionable as judged by a medical genetics professional society; for this test, ACMG SF v3.2 gene list (Miller et al., 2023).

Test versions and sequencing metrics

• Genome-Based Exome Region of Interest (ROI) version: 3.0.1
• Genome-Based Exome Pipeline version: 5.2.0
• Average coverage: 49.1416X
• Percent of bases ≥20X and MAPQ ≥20: 97.4361%

Prior record rounded these to 49.14X and 97.44%; the exact report values are preserved here.

Methodology

Reportable range

Genome-based exome ROI is defined by publicly available human gene and evidence resources including RefSeq, CCDS, and GENCODE. The Stanford Clinical Genomics Exome ROI includes:

• All protein-coding exons ±20 bp
• Selected clinically significant non-coding SNVs and indels ±20-50 bp as defined by ClinVar and HGMD

Total ROI: 50.0 Mb, which translates to 1.62% of the human genome (GRCh38).

Background / what is interrogated

The test interrogates coding regions and exon/intron splice junctions (±20 bp) of protein-coding genes, plus selected non-coding SNVs and indels (±20-50 bp) that have previously been reported clinically significant. Although the underlying sequencing is genome-wide, only variants in the ROI are identified by this test. Germline variants in the ROI that differ from GRCh38 are evaluated for potential contribution to the clinical features. When requested, medically actionable secondary findings are also reported. Clinically significant indels and certain SNVs are orthogonally confirmed by Sanger sequencing prior to reporting.

Test method

• Library prep: KAPA library prep with KAPA unique dual indexes.
• Sequencing platform: Illumina NovaSeq 6000, either S2 or S4 flow cells, 150 bp paired-end reads.
• Analysis pipeline (Stanford Clinical Genomics Genome-Based Exome Pipeline):
  • FASTQ generation: Illumina bcl2fastq
  • Alignment + variant calling (SNVs, indels): Illumina DRAGEN
  • Variant filtration: Emedgene (Illumina)
• Coverage metrics: reported on non-ambiguous mapped reads. To meet reporting criteria, the genome-wide and interrogated ROI must average ≥40X autosomal depth, and >96% of the exome ROI must have ≥20X depth at Q20 base quality. Specific gene-level coverage metrics are available upon request.

Variant calling

• SNV / indel (<50 bp) caller: DRAGEN Germline Small Variant Caller — uses mapped and aligned sequencing reads as input and calls SNVs and indels through a combination of column-wise detection and local assembly of haplotypes.
• Analytical sensitivity: determined to be >99.9% at ≥20X depth using Q20 base quality, for SNVs and indels <50 bp.
• Indels >50 bp may be detected but with reduced sensitivity and depending on local sequence context.
• Sanger confirmation: All reportable indels and certain SNVs are confirmed by Sanger sequencing (BigDye Terminator chemistry on ABI 3500 genetic analyzer). Reportable SNVs are confirmed by Sanger only when they do not meet specific predefined criteria. Analytical accuracy of Sanger is >99%.

Variant assessment and reporting

• Variants evaluated and classified per ACMG/AMP 2015 guidelines (Richards et al., PMID 25741868).
• All variants reported per HGVS nomenclature (varnomen.hgvs.org).
• Only variants "suspected to cause or contribute to this patient's clinical indication for testing" are reported. Variants of uncertain significance (VUS) are included in this report only when identified in a gene associated with a disease that closely correlates with the clinical features.
• Likely benign and benign variants are not reported but are available upon request.
• Secondary findings (when requested) are reported per ACMG SF v3.2 gene list (Miller et al., 2023, PMID 37347242).
• Heterozygous recessive variants associated with carrier status unrelated to primary indication are not reviewed or reported.
• Some reported variants may be eligible for variant resolution studies among family members.
• Inconsistencies in reported biological relationships could significantly influence classification results (relevant caveat for trio studies).

Disclaimer (LDT status)

"This test was developed and its performance characteristics determined by the Clinical Genomics Laboratory at Stanford Medicine (3375 Hillview Avenue, Palo Alto, CA 94304; CLIA #05D1038598). It has not been cleared or approved by the United States Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary."

Molecular diagnostic test results should be interpreted in the context of standard clinical, laboratory, and pathological findings. Rare false negatives may occur due to sampling error, short-read errors at low-complexity/repetitive loci, and rare polymorphisms that interfere with Sanger primer hybridization.

Explicit limitations stated by the lab

• Not designed to detect: structural rearrangements, copy-number variants (CNVs), nucleotide repeat expansions/contractions, variants in repetitive sequence regions.
• Not designed to detect: mitochondrial variants or somatic mosaicism.
• Although some mosaic variants may be detected depending on mosaicism level, the test is not designed to explicitly distinguish mosaic variation.
• This assay can detect apparent de novo inheritance when both parents are included; germline mosaicism in either parent cannot be excluded.
• A negative test result does not eliminate the possibility that this individual has a genetic cause of disease as a clinically significant variant may occur in a genomic region not interrogated by the test. A negative test result can also be due to inherent technical limitations of the assay.
• The report is limited to variants implicated in this patient's clinical features and, when requested, unrelated medically actionable genes per ACMG SF v3.2.

Recommendations

• Results should be interpreted in the context of clinical features, family history, and genetic background.
• Genetic counseling is recommended.
• Provider may request annual reanalysis of the exome data; automatic reanalysis is not performed.
• Reanalysis is particularly relevant if new clinical features emerge in a previously tested patient (pointed out by the lab as a forward-looking step).

Additional resources

• GenomeConnect (genomeconnect.org) research opportunity — the patient is eligible to participate.

References cited by the lab

1. Miller DT et al. ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine 2023 Aug;25(8):100866. PMID: 37347242.
2. Rehm HL et al. ClinGen—the clinical genome resource. New England Journal of Medicine 2015 Jun 4;372(23):2235-42. PMID: 26014595.
3. Richards S et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine 2015 May;17(5):405-24. PMID: 25741868.

Clinical significance

This is one of two negative germline trio workups now on file for Levi (the other is GeneDx Trio Genome, collected 2026-01-16, reported 2026-01-29). Together they make a germline single-gene coding-region etiology substantially less likely, particularly for the previously top-ranked overgrowth-related mTOR/PI3K-AKT pathway genes (PTEN, PIK3CA, AKT, mTOR, TSC1/2) and for the epigenetic overgrowth genes (NSD1/Sotos, EZH2/Weaver, DNMT3A/TBRS, NFIX/Malan, SETD2/Luscan-Lumish).

Specifically does not rule out:

• Somatic mosaicism — explicitly excluded by the report's design
• Mitochondrial variants — explicitly excluded; addressed by subsequent GeneDx mito genome, also negative
• Deep intronic or regulatory variants outside the ±20-50 bp ROI margin
• Methylation / imprinting defects — not tested; still relevant for BWS and Sotos-like presentations
• Copy-number variants below panel resolution
• Structural rearrangements
• Repeat expansions other than Fragile X (already negative separately)

Report history

• Prepared: Jessica Chonis, MGC, LCGC — 03/27/2025
• Finalized: Stuart A. Scott, PhD, FACMG — 05/29/2025

OTEIM Comprehensive Neuroadaptive Therapy Evaluation & Treatment Plan

Identifiers

• Client: Levi Heller
• DOB / Age: 7/2/2020 (5y 1m at eval)
• Evaluation Date: 2025-08-22
• Evaluator (OT): Erinn Askin, MA OTR/L — Founder, OTEIM (Occupational Therapy Empowering Individual Minds)
• Co-author (SLP): Jillian Yudin, M.S. CCC-SLP and Assistive Technology Specialist — Licensed Speech and Language Pathologist, LIC# 33674

This is a combined OT + SLP evaluation document. The OT sections are written in Askin's voice; the SLP-focused sections (Speech and Language Summary, Oral Mechanism Examination, Play Skills, and SLP goals in the Treatment Plan) appear to be written by Yudin and co-signed by her at the end.

Background & Reason for Referral

Levi was referred to occupational therapy due to significant challenges associated with severe autism, non-verbal communication, severe dysregulation, and fine motor delays. His family describes him as a sweet, loving, and happy child who brings joy to those around him. They are seeking a program that addresses sensory regulation, reflex integration, communication readiness, and functional independence both at home and in school.

Developmental and Medical History (as listed on report)

• Diagnoses: Autism Spectrum Disorder and Childhood Apraxia of Speech (CAS).
• Medication: Recently started low-dose guanfacine.
• Birth History: No complications.
• Medical/Surgical History: None.
• School: Transitional Kindergarten at Woodside Elementary School.
• Interests: Loves outdoor activities, enjoys music, and likes Moana.
• Social: Prefers solitary play, makes intermittent eye contact.

Audit flags on the above

1. CAS listed as diagnosis (audit flag) — the OTEIM report lists "Childhood Apraxia of Speech (CAS)" as a diagnosis alongside autism. CAS is a clinical designation that typically requires evaluation by a CAS-trained SLP (often via CASANA-style protocols) rather than a combined OT+SLP evaluation like this one. It is not documented as a diagnosis in the Sutcliffe Clinic records (2024-01-24 intake, 2024-03-08 diagnosis, 2024-11-08 ABA progress) or in any Stanford/UCSF neurology record currently on file. The OTEIM evaluators do observe "apraxia-like features" under Speech Production (weak consonant/vowel production, limited CV structures, absent oral-motor imitation), which is clinically defensible as a symptom cluster. Treat the CAS label as an evaluator-attributed diagnostic impression — not an independently diagnosed disorder — until confirmed by a CAS-specialized SLP evaluation or pediatric-neurology note.

2. Medication listing incomplete — the report lists only "recently started low-dose guanfacine." It does not list NAC, pediatric probiotics, Miralax, or the prednisolone pulse (though the pulse was ~7 months after this 2025-08-22 evaluation, so its omission is expected). NAC and probiotics were already in daily use at the Jan 24, 2024 Sutcliffe intake and are still on the current medications index. Either OTEIM did not collect a full medication history, or the family chose to disclose only guanfacine. Worth confirming with family.

3. Birth History: "No complications" — the evaluation characterizes birth history as simply "no complications." This is under-captured relative to what is known in the corpus: Levi was conceived via IVF with PGT-A-normal embryo at Zouves Fertility Center (2019-10-26 embryo transfer) and carried by a gestational surrogate (Laura Mendez, DOB 5/18/1986) who developed gestational diabetes during the pregnancy. The IVF/surrogacy context and the carrier's gestational diabetes are documented in the 2024-03-08 Sutcliffe autism-diagnosis note. Relevant because "maternal diabetes" HPO references in later reports refer to the carrier, not the biological mother. Not an error, but an incomplete birth history on this form.

4. Medical/Surgical History: "None" — this entry predates the 2026-03 DEE-SWAS diagnosis, so the omission is chronologically correct, but the form did not capture the pre-existing non-cooperative EKGs from 2024 (reported QTc 460ms in May 2024 and 452ms in July 2024 — both now understood to be uninterpretable). Nothing significant; flagged for completeness.

5. Guanfacine (first on-file) — this is the first clinical record in the corpus that documents guanfacine use. Dose, schedule, and prescribing clinician are not captured. Indication appears to be behavioral dysregulation (alpha-2 agonist used off-label for autism-related irritability and ADHD-adjacent impulsivity). Needs family confirmation of dose/schedule/prescriber and should be reflected in medications.yaml.

Behavioral Presentation (OT section)

Levi demonstrates:

• Repetitive behaviors: hand flapping, spinning, atypical vocalizations.
• Poor regulation: impulsivity, meltdowns, difficulty shifting between activities.
• Limited communication: non-verbal, inconsistent joint attention.
• Fine and gross motor difficulties: poor ball skills, weak fine motor coordination, immature grasp.
• Feeding and ADLs: Picky eating, messy feeding, requires assistance for dressing and hygiene.

Reflex Integration Findings (OT section)

Evaluator lists "likely retained primitive reflexes":

• Moro: startle, poor impulse control.
• TLR (Tonic Labyrinthine Reflex): poor organization, body awareness challenges.
• Spinal Galant: fidgeting, distractibility, high energy.
• ATNR (Asymmetrical Tonic Neck Reflex): poor midline crossing, unstable hand dominance.
• Palmar: grasp and tactile sensitivity, fine motor and oral-motor difficulties.
• STNR (Symmetrical Tonic Neck Reflex): poor seated posture, messy eating.
• Rooting: picky eating, oral defensiveness, articulation difficulties.

Audit on framework

Retained-primitive-reflex integration is a clinical framework (variants include MNRI/Masgutova, INPP/Goddard-Blythe) with limited peer-reviewed evidence for causal links to the kinds of severe neurodevelopmental regression and epileptic encephalopathy seen in Levi's case. The evaluator's specific findings (e.g., messy eating, immature grasp, tactile seeking/avoidance) are clinically observable and real. The inference that these symptoms are caused by retained primitive reflexes is framework-specific, not mainstream pediatric neurology. Preserve the observations; flag the attribution.

Hemispheric Profile (OT section)

• Right Hemisphere Weakness (28 checks): Emotional reciprocity, social awareness, non-verbal communication.
• Left Hemisphere Weakness (20 checks): Fine motor, sequencing, analytical/language deficits.
• Overall conclusion: "stronger right-hemisphere delay with functional left-side difficulties, requiring integrated treatment."

Audit on framework

The OTEIM report uses a proprietary hemispheric-weakness profile with checked-item tallies. This is not equivalent to neuropsychological lateralization assessment (e.g., NEPSY-II, WISC-V, or formal language lateralization on fMRI). Treat the tallies as a structured clinical checklist, not as a neurodiagnostic finding. The pattern (social-communication and non-verbal reciprocity deficits paired with fine-motor and sequencing difficulties) is consistent with Levi's known autism and developmental-delay phenotype.

Clinical Observations

• Entered session in high arousal.
• Seeks spinning/swinging but becomes overstimulated.
• Calms with deep pressure and proprioceptive input.
• Hypotonia: core and postural fatigue, W-sitting.
• Fine motor: immature grasp, weak in-hand manipulation.
• Visual-motor: fragmented tracking, difficulty sustaining fixation.
• Oral-motor: messy feeding, tactile seeking/avoidance cycles.
• Communication: no AAC system yet, but intentional gestures noted.

Strengths & Motivators

• Sweet, loving, and happy personality.
• Strong interest in music.
• Motivated by outdoor play.
• Brief capacity for joint attention when regulated.
• Dedicated family support.

Reflex Exercise Prescriptions

Speech and Language Summary (SLP section)

Used Functional Communication Profile – Revised (FCP-R) to assess communication strengths and weaknesses across multiple domains. Observations included structured testing, caregiver interview, and naturalistic play.

Sensory and Motor Skills

Functional hearing and vision for daily activities. Responds to environmental sounds but inconsistent auditory localization, particularly in noisy or distracting environments. Vision adequate, but eye contact inconsistent and not used reliably for social referencing. Visual tracking present but not sustained. Gross motor age-appropriate (running, climbing) but reduced fine motor control. Motor imitation is limited, particularly in the oral-facial system, which restricts his ability to model speech movements.

Attentiveness and Regulation

Short attention span highly dependent on interest level. Increased alertness during sensory-rich activities but reduced focus during structured academic tasks. Distractibility high. Impulsivity evident, responds before fully processing verbal input.

Receptive Language

Inconsistent comprehension of single words and simple concepts. Follows basic one-step directions with gesture/visual support. Multi-step commands and abstract questions not yet functional. Abstract/figurative language absent.

Expressive Language

Communicates primarily through gestures, approximations, emerging signs, and limited spoken words. Output restricted to single units with minimal combinations. Intelligibility low. Does not yet produce descriptive narratives or spontaneously generate new phrases.

Speech Production

Severely reduced intelligibility. Weak consonant and vowel production, limited CV structures, poor sequencing. Oral-motor imitation is absent. Error patterns include distorted articulations, weak oral pressure, whispered productions, inconsistent prosody. Apraxia-like features noted.

Oral Mechanism Examination (table)

Audit on Craniofacial Features row

This is the first on-file documentation of craniofacial-observation-adjacent findings: "prominent forehead, large ears, mild asymmetry." These are observations by an SLP, not a medical geneticist or dysmorphologist. The 2025-05-29 Stanford trio exome and the 2026-01-29/2026-04-09 GeneDx trio WGS/reanalyses did not catalog overt dysmorphology in their phenotype summaries (the phenotype profile through 2026-04-09 documents macrocephaly and symmetric overgrowth, not asymmetric dysmorphology). The OTEIM observations should be flagged for review at next medical-genetics or neurology visit to determine whether they represent real craniofacial features consistent with an overgrowth / imprinting / ciliopathy-adjacent syndrome, or whether they are normal-variant observations from a non-dysmorphology examiner. In the overgrowth phenotype context (99th %ile height/weight/HC by age 1, macrocephaly as an HPO term on the GeneDx reanalysis), the observations may be clinically meaningful; do not dismiss.

Feeding and Oral Function

Weak swallow coordination with anterior spillage (liquids and solids). Limited chewing; rotary chewing absent. Tongue thrust reduces swallow efficiency.

Voice and Fluency

• Voice: whispered, low intensity, occasionally strained.
• Fluency: halting output, irregular rhythm and intonation.

Pragmatic and Social Communication

Emerging but limited pragmatic skills. Eye contact inconsistent. Play solitary/object-focused. Reciprocal interaction not established.

Functional Communication

Benefits from a total communication approach (AAC, signs, gestures, vocal approximations). Meets basic needs but not yet reliable across environments.

Academic and Peer Interaction

Difficulty following instructions, responding to prompts, engaging in literacy tasks, participating in peer play. Without supports, cannot independently participate in age-expected classroom routines.

Play Skills Analysis (SLP section)

Overall play level: primarily exploratory and emerging functional.

Treatment Plan (10 sections)

1) Regulation & Sensory Processing

• Warm-up routine (deep pressure, linear vestibular, starfish breathing).
• Home/school sensory diet: 3–5 breaks/hour, 3–5 min each.
• Calm-down plan with weighted pad, breathing, visual timer.
• Goal: Use calm-down plan to regulate within 5 minutes in 4/5 opportunities.

2) Fine Motor & Visual-Motor Development

• Hand strengthening (putty, clothespins).
• Bilateral activities (ball taps, bead stringing).
• Visual-motor play (tracing, flashlight chase).
• Goals:
  • Pick up and place 10 objects with pincer grasp in <3 minutes.
  • Use both hands together to stabilize/manipulate objects in 3/5 trials.

3) Communication & AAC

• AAC device/board with core words based on functional communication preferences.
• Train use of choice boards and yes/no buttons.
• Pair with strong motivators (music, Moana).
• Goals:
  • Team chooses appropriate core and fringe words and display size.
  • Use AAC to communicate wants, needs, feelings, and social-pragmatic ideas.

4) ADLs

• Dressing: backward chaining. Feeding: food exploration ladder + sensory desensitization. Toileting: scheduled sits with visuals. Hygiene: visual cards, hand-over-hand fading.
• Goals:
  • Put on pants with ≤25% assistance.
  • Feed self 10 bites with spoon/fork in 4/5 meals.
  • Sit on toilet for 2 minutes post-meals in 4/5 opportunities.
  • Brush teeth with electric toothbrush for 20 seconds in 4/5 trials.

5) School Accommodations

• AAC access all day with trained staff. Sensory breaks every 10–15 min. First/Then supports for transitions. Safe space for regulation.
• Goal: Transition between 3 classroom activities daily with one prompt using first/then visuals.

6) Low Level Laser Therapy (Adjunct) — SAFETY AUDIT FLAG (retroactively resolved: treatment discontinued 2026-03-11)

• Evaluator plan: begin with 3 transcranial points: crown, right temple, left forehead. Progress to right cerebellum and submandibular region. Frequency 3–5x/week, 30–60 sec/point.
• Goal: engage in structured task for 5 min post-laser in 4/5 sessions.

Actual LLLT usage history (per BCBA Grace Backhaus, 2026-04-20 report)

LLLT was used with Levi from Aug 2025 through early March 2026. Documented schedule (family/BCBA-reported):

• 2025-08-22 — Initial session with OTEIM at the house (same day as this OTEIM evaluation).
• 2025-09-15 through 2025-09-19 — One-week intensive with OTEIM.
• 2025-09-26 — Check-in session with Erinn Askin.
• Subsequent period through early November — staff training.
• 2025-11-07 onward — LLLT formally integrated into Levi's ABA sessions under BCBA Grace Backhaus. Cadence: 4–5x/week, 15–20 min per session. (Note: substantially longer per-session than the 30–60 sec/point OTEIM prescription; the per-point durations delivered in practice are not captured in this note and should be confirmed with Grace and Erinn at next review.)
• Week of 2026-02-17 — Paused during potty-training week.
• ~2026-02-24 — Resumed at prior cadence.
• 2026-03-11 — Discontinued completely after the 2026-03-10 Stanford EMU confirmed DEE-SWAS with multifocal spike-wave foci at O1, O2, P4, T3, T4–T6.

This usage history is sourced from direct family/BCBA report (Grace Backhaus), not from an OTEIM or ABA progress-note PDF yet in the corpus. The dose per session (4–5x/week × 15–20 min over ~4 months of active use from 2025-11-07 to 2026-02-16 and again from ~2026-02-24 to 2026-03-10) is materially larger than the evaluator's written prescription (3–5x/week × 30–60 sec per transcranial point). Confirm with Grace/Erinn: (1) per-point durations actually delivered, (2) transcranial points used in practice (did it stay at crown/right-temple/left-forehead, or did it progress toward right cerebellum/submandibular region as the plan described), (3) whether scalp placement ever approached occipital leads (O1/O2), and (4) any observed adverse events (headache, sleep disturbance, behavior change, seizure-like events) temporally correlated with sessions.

Retrospective safety audit

Transcranial low-level laser therapy (tLLLT) / photobiomodulation is investigational for pediatric neurodevelopmental disorders. No established safety data exists in active epileptic encephalopathy.

• At the time of the 2025-08-22 evaluation and through the Nov 2025 ABA integration, Levi's EEG status was unknown; his DEE-SWAS diagnosis had not yet been made.
• As of the 2026-03-10 Stanford EMU (wake SWI 78%, sleep SWI 95–100%, named discharge foci at O1, O2, P4, T3, T4–T6), it became evident retrospectively that LLLT had been delivered ~4–5x/week for ~15–20 min over roughly four months in a patient with — based on the degree of encephalopathy seen at first EEG — an already-established occipital/temporal/parietal spike-wave burden.
• The family's decision to discontinue LLLT on 2026-03-11 (the day after the EMU study, upon seizure confirmation) is consistent with the precautionary posture this record recommends. No evidence in the current corpus directly links LLLT exposure to the DEE-SWAS phenotype; no evidence rules out exposure as an aggravating factor either.
• Going forward: do NOT resume LLLT without prior review and explicit clearance from Levi's pediatric epileptologist (Dr. Christopher Lee-Messer at Stanford and/or Dr. Clare Timbie at UCSF). The retrospective exposure history (dates, cadence, duration, scalp placement) should be shared with neurology at Levi's next visit so it can be documented as part of his environmental/exposure history.

7) Myofunctional (MYO) Goals

• Tongue-jaw dissociation (isolated tongue tip movements) 70% accuracy with tactile/verbal cueing.
• Functional lip closure at rest and during swallow 70% accuracy across structured tasks.
• Rotary chewing with appropriate food textures 80% accuracy in therapist-guided activities.

8) Apraxia (Speech Motor / DTTC + PROMPT style)

• Imitate CV, VC, CVCV syllable shapes with DTTC supports at 70% accuracy for movement and articulatory placement.
• Produce 10 functional target words using backward chaining at 80% accuracy for articulatory control.
• Sequence 2–3 syllable words with PROMPT tactile-kinesthetic supports at 70% accuracy for motor planning.

9) Receptive Language Goals

• Follow 1-step directions with familiar objects/actions in 4/5 opportunities with minimal gestural cues.
• Follow 2-step directions in daily routines in 4/5 opportunities with visual/verbal supports.
• Identify familiar objects, actions, or basic concepts (spatial, size, quantity) in 4/5 opportunities during structured language tasks.

10) Pragmatic / Social Communication Goals

• Initiate a turn during structured social game in 4/5 opportunities with visual/verbal prompting.
• Maintain joint attention with peer/adult for 4/5 opportunities across structured play routines.
• Use functional communication (gestures, AAC, or verbal approximations) to request, protest, or comment in 4/5 opportunities during structured play or classroom activities.

Summary of Explicit Functional Goals (13-item list)

1. Use calm-down plan to self-regulate within 5 minutes in 4/5 episodes.
2. Sit upright for 5 minutes during a table task after STNR/TLR program.
3. Accept 2 new foods after Rooting reflex work.
4. Pick up and place 10 objects with pincer grasp in <3 minutes.
5. Use both hands together during tasks in 3/5 opportunities.
6. Make 10+ functional AAC requests daily.
7. Engage in 90 seconds of joint attention with AAC in 4/5 sessions.
8. Put on pants with ≤25% assistance.
9. Feed self 10 bites with spoon/fork.
10. Sit on toilet for 2 minutes after meals.
11. Brush teeth with electric toothbrush for 20 seconds.
12. Transition between 3 school activities with first/then visuals.
13. Engage in structured 5-minute task post-laser in 4/5 sessions.

Prognosis

"With consistent therapy, caregiver follow-through, and school collaboration, Levi has a good prognosis for improved regulation, communication, and independence."

Signatures

• Evaluator (OT): Erinn Askin, MA OTR/L, Founder – OTEIM. Signature line undated on PDF.
• Co-author (SLP): Jillian Yudin, M.S. CCC-SLP and Assistive Technology Specialist; Licensed Speech and Language Pathologist, LIC# 33674. Signed.

Interpretive Notes

What's clinically useful in this report

• The OT/SLP clinical observations (hypotonia, W-sitting, open-mouth posture at rest, weak lip closure, absent oral-motor imitation, low oral-facial tone, limited tongue dissociation, halting/whispered voice, low-intensity vocal production, apraxia-like speech production features, severely limited expressive output) are concrete and consistent with what other reports describe.
• The FCP-R-based SLP findings are the first formal on-file SLP evaluation in the corpus. They usefully document the pre-DEE-SWAS baseline for expressive and receptive language and speech production — which will be important for interpreting any post-steroid language changes in the 2026-04 behavioral-change window.
• The oral-mechanism-exam observations of "prominent forehead, large ears, mild asymmetry" are a data point worth raising at next medical-genetics visit.
• The 13-goal functional-goals list provides a concrete baseline to track against in future progress reviews.

What's framework-specific and should be treated with caution

• Retained-primitive-reflex integration (Moro/TLR/Spinal Galant/ATNR/Palmar/STNR/Rooting as causal drivers of Levi's fine-motor, feeding, and communication deficits) is not established in mainstream pediatric neurology.
• The proprietary hemispheric-weakness profile (checked-item tallies on the 28/20 scale) is not equivalent to formal neuropsychological lateralization assessment.
• The CAS label is evaluator-attributed, not independently confirmed by a CAS-specialized SLP or pediatric neurology workup.
• Transcranial low-level laser therapy is investigational for pediatric neurodevelopmental disorders in general, and is specifically unsafe without epileptologist clearance in an active epileptic encephalopathy patient. Retrospective exposure history: LLLT was used 4–5x/week × 15–20 min as an integrated part of Levi's ABA sessions from 2025-11-07 through 2026-03-10 (paused the week of 2026-02-17), was discontinued on 2026-03-11 upon DEE-SWAS confirmation, and should not be resumed without epileptologist sign-off. See Section 6 of the Treatment Plan above for the full usage log and follow-up questions for Grace Backhaus and Erinn Askin.

Relevance to Levi's differential

• The evaluation itself is not diagnostic for any specific etiology. It captures pre-DEE-SWAS baseline severity of expressive/receptive language, oral-motor imitation, and play skills, which is useful as a pre-pulse baseline.
• The craniofacial-observation-adjacent findings (prominent forehead, large ears, mild asymmetry) in the context of documented symmetric overgrowth (99th %ile height/weight/HC) and macrocephaly (HPO term on GeneDx reanalysis) are worth re-raising with medical genetics. Whether these are normal-variant observations or signal a more specific overgrowth / imprinting syndrome remains open after four negative germline workups (2024-05-24 Quest CMA, 2025-05-29 Stanford trio exome, 2026-01-29 GeneDx trio genome, 2026-04-09 GeneDx reanalysis).
• The first on-file documentation of guanfacine is clinically actionable: it creates a concrete active-medication instance for the existing "cooperative baseline EKG + cardiology review before new psychopharm" diagnostic and treatment items in the workspace. Alpha-2 agonists can affect HR and BP and should have cardiology awareness particularly given Levi's two uninterpretable EKGs from 2024.

What the reflex and hemispheric findings do and do not tell us about etiology

The OTEIM reflex findings (retained Moro, TLR, Spinal Galant, ATNR, Palmar, STNR, Rooting) and the 28/20 hemispheric-weakness tally were captured above as-reported, with framework audits. This note is durable guidance for future readers — human and agent — on how these findings should feed (or not feed) the differential.

Three claims, treated separately:

1. The underlying observations (Levi startles easily, W-sits, has poor midline crossing, messy eating, immature grasp, picky eating, tactile defensiveness, absent oral-motor imitation) are real and clinically useful. They match what Sutcliffe, the ABA program, the SLP sections of this same report, and family reports describe independently.
2. The labels ("retained Moro," "retained ATNR," "retained STNR," etc.) are framework-specific vocabulary (MNRI/Masgutova, INPP/Goddard-Blythe). Mainstream developmental-behavioral pediatrics and pediatric neurology use them inconsistently and typically not as a primary diagnostic axis.
3. The causal inference that retained primitive reflexes are what is causing Levi's fine-motor, feeding, communication, or epileptic-encephalopathy phenotype, and that reflex-integration exercises therefore treat the cause — is not supported by controlled-trial evidence. Cochrane-style reviews of reflex-integration / vestibular / sensory-integration programs for neurodevelopmental disorders are consistently negative or inconclusive.

Where reflex findings are actually clinically indicative in mainstream pediatric neurology:

• Asymmetric retained reflexes (e.g., ATNR on one side only) → hemiparetic pattern → suggests a unilateral structural lesion (stroke, focal malformation, hemimegalencephaly).
• Exaggerated Moro + hypertonia + scissoring in infancy → classic spastic CP pattern from periventricular white-matter injury.
• Sudden reappearance of primitive reflexes in an older child who had lost them → concerning for progressive cortical disease (neurodegenerative, acquired cortical injury, severe encephalopathy).

Why Levi's reflex profile does not match any of those localizing patterns:

• The OTEIM findings are symmetric (no one-sided ATNR, no lateralizing Babinski, no hemiparetic posture described), multiple (seven reflex categories all flagged), and consistent with Levi's already-established global-developmental-delay / autism phenotype.
• In the broader pediatric-neurology literature, retained reflexes correlate non-specifically with cerebral palsy, global developmental delay, autism, ADHD, learning disability, and prematurity — i.e., with disrupted early CNS development in general, rather than with a specific etiology.
• Where retained reflexes carry signal, they function more as a severity marker than a localizing sign. Levi's severity is already evident from EEG (DEE-SWAS with sleep SWI 95-100%), regression history, and the ABAS-3 trajectory. The reflex findings do not add new etiologic information on top.
• The 2026-04-07 UCSF brain MRI found no cortical dysplasia, no TSC stigmata, no hemimegalencephaly, and no asymmetric structural lesion — so there is no focal structural target for the reflexes to "point at" even in principle.

The 28/20 right-vs-left hemispheric-weakness tally has the same problem one level up. It is a structured clinical checklist, not a neuropsychological lateralization assessment. It is not equivalent to NEPSY-II or WISC-V lateralization testing, not equivalent to fMRI language-lateralization, and should not be used to infer a right-hemisphere lesion.

Practical implications:

• The reflex observations stay in the record as part of Levi's motor/sensory phenotype and are reasonable targets for OT work (regulation, core strength, midline integration). This is legitimate OT scope.
• They should not adjust the differential ranking. Specifically, they do not move overgrowth-mosaic-mtor, neuroinflammatory-dee-swas, overgrowth-pi3k, non-mTOR overgrowth syndromes, or the idiopathic-DEE-SWAS placeholder up or down.
• They are not a substitute for localizing workup. The items that would actually be etiologically indicative for Levi remain specialized pediatric-neuroradiology re-read of the April 2026 MRI (subtle FCD, mosaic mTOR features, re-characterization of the R>L periventricular white-matter signal), mosaic-sensitive tissue-based sequencing (buccal/skin-punch PROS panel), and the methylation/imprinting panel (MS-MLPA for 11p15 BWS, 5q35 Sotos) — already at the top of the diagnostics workspace.

Woodside Elementary School Annual IEP - January 8, 2026

Identifiers

• Student: Levi Matthew Heller
• DOB / Age at meeting: 7/2/2020 (5 years 6 months)
• Grade: Transitional Kindergarten (TK)
• School: Woodside Elementary School (San Mateo County SELPA / Woodside Elementary School District)
• District ID: 113354
• SSID (Statewide Student Identifier): 6517451171
• Meeting Date: 1/8/2026
• Reconvened: 1/15/2026
• IEP Type: Annual Review
• Initial placement in special education: 1/14/2025
• Next Annual IEP due: 1/7/2027
• Next Triennial Reevaluation due: 1/7/2028
• Languages: English (home and academic)

This is the first IEP record in Levi's corpus. The prior (first) IEP was developed 1/14/2025 as part of Levi's initial placement in special education; that document is referenced inside this annual but is not itself ingested.

Parent signature block

The meeting was held 1/8/2026 and reconvened 1/15/2026. The signed parent consent page (separate PDF, attached) shows:

• Miki Heller (mother) - signed and consented to the IEP on 03/20/26 (approximately 10 weeks after the reconvene).
• Jacob Heller (father) - signed and consented to the IEP on 04/20/2026 (approximately 14 weeks after the reconvene, and - materially - after the 2026-03-10 DEE-SWAS diagnosis, the 2026-03-23 IV methylprednisolone pulse, and the 2026-04-06 UCSF continuous video-EEG showing near-total electrographic resolution).

Audit flag - IEP signed after significant medical change without amendment

Jake signed this IEP on 4/20/2026, after the following events not reflected in the IEP document:

1. 2026-03-10 Stanford EMU continuous video-EEG (E26-50) diagnosing DEE-SWAS with sleep SWI 95-100%.
2. 2026-03-23 to 2026-03-25 IV methylprednisolone pulse (20 mg/kg/day x 3 days).
3. 2026-04-06 to 2026-04-07 UCSF continuous video-EEG showing only "occasional bursts of multifocal spike-wave discharges" with no seizures and well-formed reactive posterior dominant rhythm.
4. 2026-04-07 UCSF brain MRI with nonspecific periventricular deep white-matter FLAIR signal (R>L) but otherwise structurally unremarkable imaging.

The Health section of this IEP (see below) describes Levi as "a healthy 5-year-old who does not take any medication on a regular basis" and reflects only the 3/8/2024 Sutcliffe autism diagnosis. No IEP amendment has been executed to reflect the DEE-SWAS diagnosis, the steroid pulse, or the post-pulse EEG change. This is worth tracking for the next IEP amendment or annual review.

IEP Team (attendees listed on signature page)

10 IEP team members participated in the 1/8/2026 meeting. Of these, 9 are Woodside Elementary / Woodside Elementary School District staff who are not currently in content/providers/providers.yaml. Grace Backhaus (private BCBA from Sutcliffe Clinic) attended as an outside agency representative and is already on file.

1. Mychel Navales - Special Day Class (SDC) Teacher at Woodside Elementary. Phone: 650-851-1571. Primary classroom teacher and case manager.
2. John Bartfield - Director of Student Services, Woodside Elementary School District. District-level administrator.
3. Kate Morton - School Psychologist, Woodside Elementary. Conducts psychoeducational assessments and co-develops behavior plans.
4. Brigit Danz - Adaptive Physical Education (APE) Teacher, Woodside Elementary. Delivers APE services and authored APE goals.
5. Adam Soffrin - Board Certified Behavior Analyst (BCBA), Woodside Elementary School District. School-side BCBA; authored behavior goals and the BIP. Distinct from Grace Backhaus (Levi's private/ABA BCBA at Sutcliffe Clinic).
6. Leslie Davis - Occupational Therapist, Woodside Elementary. Delivers school-based OT and authored OT goals. Distinct from Erinn Askin (Levi's private OT at OTEIM).
7. Jennifer Mitchell (referenced as "Jenn Mitchell" in meeting notes) - Speech and Language Pathologist, Woodside Elementary. Delivers school-based SLP and authored speech/language goals. Distinct from Jillian Yudin (Levi's private SLP who co-authored the OTEIM evaluation).
8. Stacey McNamara - General Education Teacher, Woodside Elementary. Represents the general education perspective in IEP team meetings.
9. Julia Palevich - AAC (Augmentative and Alternative Communication) Specialist. Supports AAC device implementation (iPad / TouchChat application).
10. Grace Backhaus (attended as outside agency representative) - Private BCBA from Sutcliffe Clinic who leads Levi's private/ABA program. Already in providers.yaml.

Parents Miki Heller and Jacob Heller were also listed as IEP team members.

Disability Eligibility

• Primary disability: Autism (AUT) - CA eligibility code.
• Secondary disability: Speech or Language Impairment (SLI).

The eligibility determination is consistent with the 3/8/2024 Sutcliffe Clinic ASD diagnosis and with the Aug 22, 2025 OTEIM OT+SLP evaluation that established the first formal SLP baseline.

Placement / Educational Setting

• Program: Transitional Kindergarten with Special Day Class (SDC) supports.
• Least Restrictive Environment (LRE) calculation: 80% of the school week in the regular class / 20% of the school week outside the regular class (in SDC or pull-out therapy settings).
• School of attendance: Woodside Elementary School (home school).
• ESY (Extended School Year): Yes. ESY dates: 6/15/2026 - 7/10/2026.
• Transportation: Not captured as a specific related service on the services page reviewed.

Services Offered (FAPE offer)

All services are in minutes of direct service. All are school-based.

• Specialized Academic Instruction (SAI): 45 minutes / day. Provider: SDC teacher. Location: SDC classroom.
• Intensive Individual Services (1:1 aide): 420 minutes / day. Provider: 1:1 paraprofessional. Location: across all settings.
• Occupational Therapy (OT): 30 minutes / week. Provider: school OT (Leslie Davis). Location: push-in or pull-out.
• Behavior Intervention: 30 minutes / week. Provider: school BCBA (Adam Soffrin). Location: across settings.
• Language and Speech (SLP): 180 minutes / month. Provider: school SLP (Jennifer Mitchell). Location: push-in or pull-out.
• Adapted Physical Education (APE): 30 minutes / week. Provider: APE teacher (Brigit Danz). Location: APE setting.
• Assistive Technology (AAC): 240 minutes / month. Provider: AAC specialist (Julia Palevich). Location: across settings.

The 420 min/day Intensive Individual Services allocation is a full-day 1:1 aide (420 min ~= 7 hours, which matches a TK school day). This is the most intensive IIS allocation CA-SELPA typically offers at TK.

Goals (annual goals on this IEP)

13 annual goals are documented. Baselines are drawn from pre-meeting data (late fall 2025 / early winter 2026). Target dates for all goals are 1/8/2027 (the next annual).

Academic goals

1. Alphabet identification - baseline: identifies 2 of 26 letters when shown flashcards with 1:1 verbal prompts. Target: identify 20 of 26 letters across 4 of 5 trials over 3 consecutive sessions.
2. Sorting - baseline: sorts objects by one attribute (color) with maximum prompting; does not sort by shape or size independently. Target: sort objects by at least 2 of 3 attributes (color, shape, size) across 4 of 5 trials with minimal prompting.
3. Number recognition - baseline: identifies 1 of 10 numbers (recognizes "1") when shown flashcards; does not yet generalize. Target: identify 8 of 10 numbers (0-9) across 4 of 5 trials over 3 consecutive sessions with minimal prompting.

Adapted Physical Education (APE) goals - 2

4. APE - locomotor / ball skills - baseline and target captured on the APE goals page (specific numerics in the raw PDF). Brigit Danz is the provider.
5. APE - balance / motor planning - baseline and target captured on the APE goals page.

Behavior goals - 2 (authored by Adam Soffrin, school BCBA)

6. Behavior - transitions / flexibility - this is a re-written continuation of a prior-year goal that was NOT MET.
7. Behavior - compliance / following adult direction - also a re-written continuation of a prior-year goal that was NOT MET.

Occupational Therapy (OT) goals - 2 (authored by Leslie Davis, school OT)

8. OT - visual motor - baseline and target captured on the OT goals page.
9. OT - visual motor / pre-writing strokes - baseline and target captured on the OT goals page.

Note: the self-regulation engagement goal (OT2, 2025-2026 prior-year goal) was MET and is therefore not continued on this IEP.

Speech and Language Pathology (SLP) goals - 2 (authored by Jennifer Mitchell, school SLP)

10. SLP - requests - continuation of prior-year "requests" goal that was NOT MET. Target is mand / requesting behavior with AAC.
11. SLP - receptive identification - continuation of prior-year "receptive ID" goal that was NOT MET. Target is identifying named objects / pictures.

AAC goals - 2 (authored by Julia Palevich, AAC Specialist)

12. AAC - operational competence - baseline: navigates to 1-2 core-vocabulary pages on TouchChat with adult prompting. Target: independently navigate to 5+ pages / vocabulary categories across 4 of 5 trials.
13. AAC - linguistic competence - baseline: produces single-symbol utterances with heavy prompting. Target: produces 2-symbol combinations (e.g., "want + juice", "more + music") across 4 of 5 trials.

Prior-Year Goals Outcomes (2025-2026 IEP goals status)

This section documents which of the prior year's goals were MET and which were NOT MET. It is the clearest longitudinal signal in this IEP.

• OT2 2025-2026 Self-regulation / engagement goal - MET. (Only prior-year goal met.)
• Transitions / flexibility goal - NOT MET - rewritten and continued.
• Compliance / non-compliance goal - NOT MET - rewritten and continued.
• Requests (SLP expressive) goal - NOT MET - rewritten and continued.
• Receptive identification goal - NOT MET - rewritten and continued.
• Communication imitation goal - NOT MET - rewritten and continued.
• AAC (prior-year) goal - NOT MET - rewritten and continued.

The prior year spanned approximately 1/14/2025 (initial IEP) through 1/8/2026 (this annual). Progress on only 1 of ~7 measurable goals suggests a period of substantial educational stagnation or regression, consistent with the broader clinical picture in that window (regression from a few words at age 4 to non-verbal by age 5, confirmed in case-overview).

Health / Medical Section (verbatim context from IEP)

• Diagnoses as recorded on IEP: "Diagnosed with autism by Dr. Sutcliffe on 3/8/2024."
• Medications as recorded on IEP: "appears to be a healthy 5-year-old who does not take any medication on a regular basis."
• Hearing screening: Not possible to complete due to non-verbal status / inability to cooperate with audiometry. Parents not concerned about hearing.
• Near vision screening: Not possible to complete due to non-verbal status. Parents not concerned about vision.
• Distance vision screening: Not possible to complete due to non-verbal status. Parents not concerned about vision.
• Glasses / hearing aids: None reported.

Audit flags on the Health section

1. Medication statement contradicts OTEIM (Aug 22, 2025) record. The OTEIM evaluation 4.5 months before this IEP documented "recently started low-dose guanfacine." This IEP says Levi "does not take any medication on a regular basis." Possibilities - (a) guanfacine was discontinued between Aug 2025 and Jan 2026, (b) the IEP Health section reflects incomplete or filtered medication disclosure to the school team, or (c) the IEP was drafted from a cached/template health section that was never updated. Worth confirming with family.

2. Health section pre-dates DEE-SWAS by ~2 months but was signed ~1.5 months after DEE-SWAS confirmation. The IEP document was drafted 1/8/2026 and reconvened 1/15/2026 - both before the 2026-03-10 Stanford EMU that diagnosed DEE-SWAS. But Jake signed the IEP on 4/20/2026, after the diagnosis, after the steroid pulse, and after the near-clean UCSF EEG, without requesting an amendment. The health section as signed therefore materially understates Levi's current medical picture. At next IEP amendment or annual, the Health section should be updated to reflect the DEE-SWAS diagnosis, the 2026-03-23 IV methylprednisolone pulse history, any active epilepsy / AED / taper regimen, the 2026-04-07 MRI findings, and current medication list (guanfacine if continuing, NAC, probiotics, Miralax).

3. Vision / hearing screens were not completable. This is expected given Levi's non-verbal status and severe cooperation challenges, but it is a testing gap. A behavioral audiogram or otoacoustic-emissions / auditory-brainstem-response (ABR/OAE) hearing assessment and a pediatric ophthalmology referral for formal cycloplegic refraction may be worth scheduling outside the school-screening setting.

Behavior Intervention Plan (BIP)

• BIP attached to this IEP: Yes. BIP is dated 2/13/2025 and is based on:
  • Functional Behavior Assessment (FBA) dated 11/8/2024.
  • Social Emotional Assessment (SEA) dated 1/14/2025 (the same date as the initial IEP).

The BIP targets behaviors consistent with transitions / flexibility, elopement / unsafe behavior, and non-compliance. Specific BIP content was reviewed visually but is not transcribed verbatim here (the BIP is itself a separate 2/13/2025 document cross-referenced by this IEP).

Note on elopement

The IEP BIP (2/13/2025) pre-dates but is consistent with the 2026-04-19 parent-reported new-onset elopement documented in content/vault/records/2026-04-19-note-nocturnal-hyperphagia-addendum.md as part of the post-pulse mixed-valence behavioral picture. The BIP offers a pre-existing operational framework for tracking and responding to elopement; worth coordinating school BIP and family behavior plan after the post-pulse behavioral picture stabilizes.

Assistive Technology / AAC

• AAC system in use: iPad with TouchChat application.
• AAC services (pre-IEP): 4 hours/month reported in attendance / IEP notes.
• AAC services (on this IEP): 240 min/month (= 4 hours/month). Provider: Julia Palevich, AAC Specialist.
• AAC goals on this IEP: 2 goals - Operational Competence and Linguistic Competence (see Goals section above).

This is the first on-file documentation of Levi's specific AAC device and app. Prior records (OTEIM Aug 2025) noted "no AAC system in place at time of eval." The AAC system appears to have been introduced between Aug 2025 and Jan 2026, most plausibly in the fall 2025 school year.

State Assessments

• CAASPP / ELPAC: Not applicable / exempt at TK age. Alternate assessment eligibility may be flagged for future grades given Levi's severe cognitive and communicative disability.
• DRDP (Desired Results Developmental Profile): Used internally for TK progress tracking. Specific DRDP scores were not transcribed verbatim from this IEP; available in the raw PDF.

Key clinical takeaways (not in IEP document; editorial)

1. Establishes the current educational setting - TK at Woodside Elementary with SDC support, 80/20 LRE split, 420 min/day 1:1 aide, plus weekly OT/SLP/APE/behavior and monthly AAC services. Intensive educational program appropriate for Levi's severity.

2. Prior-year goal outcomes as a longitudinal signal - 1 of 7 goals met over the 1/14/2025 - 1/8/2026 window, with the MET goal being self-regulation / engagement (an OT goal) and the NOT-MET goals spanning behavior, SLP, and AAC. Consistent with the case-overview's "regression from a few words at 4 to non-verbal by 5" window and with the Nov 8, 2024 ABA progress report's ABAS-3 GAC decline from 69 -> 58.

3. First on-file AAC system - iPad + TouchChat. This is a material pre-DEE-SWAS educational / communication tool that should be tracked going forward (post-pulse case-overview notes "increased proficiency with iPad and AAC device" as a potential electrographic-resolution-related gain).

4. Health section stale relative to signature date - The signed IEP does not reflect DEE-SWAS, the steroid pulse, or the MRI. This is a non-urgent but material documentation gap worth an IEP amendment at the next appropriate trigger.

5. School team largely not yet in providers.yaml - 9 new Woodside-Elementary-side providers to add. Grace Backhaus already on file; Erinn Askin (OTEIM), Jillian Yudin (OTEIM SLP), and Trenna Sutcliffe (diagnosing DBP) are private-practice and distinct from the school-side OT / SLP / BCBA.

GeneDx Trio Genome order (MyChart)

MyChart entry documenting the order and blood draw for the GeneDx Trio Genome test that ultimately reported on 2026-01-29.

• Order code: J774a
• Collection date: 2026-01-16
• Ordering provider: Chung Lee, MD
• Test: GeneDx Trio Genome Sequencing (proband + biological parents)
• Reported fee: $4,500 (self-pay / subject to coverage review)
• Result record: content/vault/records/2026-01-29-genetics-genedx-trio-genome.md

This is the order-and-draw stub; the full result is carried by the 2026-01-29 record. Timeline gets its own "specimen collected" entry at 2026-01-16 with the result event logged on 2026-01-29.

Metabolic and etiologic workup - January 16, 2026

Composite extraction from Stanford MyChart Test Details PDFs 16-28, all from a single broad etiologic workup on January 16, 2026. Ordering/authorizing provider: Chung Lee, MD. Metabolic panels interpreted at Stanford Hillview by Tina M. Cowan, PhD. This draw occurred roughly eight weeks prior to the DEE-SWAS diagnosis on March 10, 2026.

CBC with differential (MyChart 16) - acute pattern

Collected 2026-01-16 14:04, resulted 16:26. Specimen: venipuncture blood. Performing lab: Stanford Lab (300 Pasteur Drive, Palo Alto CA 94305).

Red cell indices:

• WBC: 24.2 K/uL HIGH (ref 5.5-15.5)
• RBC: 5.41 M/uL HIGH (ref 3.90-5.30)
• Hemoglobin (HGB): 12.9 g/dL (ref 11.5-13.5; normal)
• Hematocrit (HCT): 40.3% HIGH (ref 34.0-40.0)
• MCV: 74.5 fL LOW (ref 75.0-87.0)
• MCH: 23.8 pg LOW (ref 24.0-30.0)
• MCHC: 32 g/dL (ref 31.0-37.0; normal)
• RDW: 12.9% (ref 11.5-14.5; normal)
• Platelets (PLT): 334 K/uL (ref 150-400; normal)

Differential — percentages:

• Neutrophil %: 80.9
• Lymphocyte %: 12.4
• Monocyte %: 5.5
• Eosinophil %: 0.3
• Basophil %: 0.4
• Immature granulocytes: 0.5% HIGH (ref 0.0-0.3)

Differential — absolutes:

• Neutrophil absolute: 19.63 K/uL HIGH (ref 1.50-8.50)
• Lymphocyte absolute: 3 K/uL (ref 2.00-8.00; normal)
• Monocyte absolute: 1.34 K/uL HIGH (ref 0.00-0.50)
• Eosinophil absolute: 0.07 K/uL (ref 0.00-0.30; normal)
• Basophil absolute: 0.09 K/uL (ref 0.00-0.25; normal)
• Immature granulocyte absolute: 0.11 K/uL HIGH (ref 0.00-0.03)
• nRBC absolute: 0.00 K/uL
• nRBC %: 0.0

Pattern: neutrophil-predominant leukocytosis with left shift (immature granulocytes present) on a preserved platelet count and no circulating nucleated RBCs — consistent with acute infection or strong physiologic stress at the time of draw. Microcytic indices (low MCV and MCH) persist, though MCHC and RDW are still within range and hemoglobin is borderline-normal, so this looks more like early/mild microcytosis than overt anemia at this moment.

Iron studies (MyChart 18, 19)

• Iron, total: 16 ug/dL LOW (ref 53-119; toxic range >350) — further worsened from prior draws.
• Ferritin: 66 ng/mL (ref 30-400; normal range; may be elevated as an acute-phase reactant given leukocytosis).
  • Lab note: Biotin has been identified by the manufacturer as a potential interfering substance; high-dose biotin supplementation (multivitamins, hair/nail supplements, workout supplements) can distort ferritin readings. Worth confirming whether Levi was on any biotin-containing supplement at the time of the draw before interpreting this as truly normal.
• Both resulted from Stanford Lab; performing pathologist Dr. Christina Kong.

Vitamin B12 (MyChart 17)

• 528 pg/mL (normal)

Thyroid function (MyChart 20, 21, 22)

• Free T3: 4.8 pg/mL (normal)
• Free T4: 1.17 ng/dL (normal)
• TSH: 2.36 uIU/mL (normal)

Uric acid (MyChart 24)

• 4.2 mg/dL (normal)

Metabolic etiologic testing — all normal

Methylmalonic acid (MyChart 23)

• 0.24 umol/L (normal; ref 0-0.3)

Homocysteine, total (MyChart 27)

• 7.3 umol/L (normal)

Creatine disorder panel (MyChart 25)

• Creatine: 71 nmol/mL (normal)
• Guanidinoacetic acid: 1.4 (normal)
• Rules out GAMT deficiency, AGAT deficiency, and creatine transporter deficiency as single-test screen.

Plasma acylcarnitines, quantitative (MyChart 26)

• Interpretation: "Normal plasma acylcarnitine profile."
• Signed: Tina M. Cowan, PhD.
• Rules out most fatty acid oxidation defects and several organic acidurias detectable by this screen.

Plasma amino acids (MyChart 28)

• Interpretation: "Normal pattern of amino acids for age."
• Comprehensive panel (taurine, glycine, glutamine, methionine, cystathionine, serine, arginine, phenylalanine, tyrosine, etc.) all within reference.
• Rules out inborn errors of amino acid metabolism detectable by this screen.

Interpretive notes

• The CBC shows a clear acute leukocytosis pattern on the same day as an otherwise comprehensive etiologic screen. It is plausible Levi had an intercurrent infection or inflammatory trigger at the time of this draw. This temporal relationship, roughly eight weeks before DEE-SWAS was formally identified, warrants direct cross-referencing with symptoms around January 2026 when provider notes or parent recall are available.
• Very low iron (16 ug/dL) is notable; ferritin can be spuriously normal as an acute-phase reactant in the setting of leukocytosis, so iron deficiency is probably understated here.
• Negative acylcarnitines, amino acids, MMA, homocysteine, and creatine panel meaningfully narrow the differential: many inborn errors of metabolism are implausible as the sole etiology.
• Normal thyroid function makes primary thyroid dysfunction an unlikely driver.
• The breadth of this panel (creatine disorders, acylcarnitines, aminoacids, MMA, homocysteine, thyroid, iron, uric acid) strongly suggests Dr. Chung Lee was reasoning along a broad metabolic/neurometabolic differential prior to the DEE-SWAS diagnosis.

GeneDx Mitochondrial Genome Sequencing

Collection: 2026-01-16. Report: 2026-01-26. Ordered by Chung Lee, MD. Proband accession 3565320 (Levi Heller).

Primary result

NEGATIVE — No pathogenic or likely pathogenic mtDNA variant identified.

Haplogroup

T1a1k1

Signatory

Patricia Celestino Soper, PhD, FACMG, GeneDx

Clinical significance

This is the first mtDNA-specific workup on file. Combined with the Stanford trio exome (2025-05-29, uninformative) and GeneDx trio genome (2026-01-29, negative), this rules out most mtDNA-inherited mitochondrial disease at the heteroplasmy-detection threshold of the assay. It does not rule out tissue-restricted low-level heteroplasmy or nuclear-encoded mitochondrial disease.

The Stanford exome explicitly stated it was not designed to detect mitochondrial variants, so this report closes that specific gap.

Haplogroup T1a1k1 is a common European haplogroup of no specific clinical implication by itself.

GeneDx Trio Whole Genome Sequencing

Collection: 2026-01-16. Report: 2026-01-29. Ordered by Chung Lee, MD (Stanford/UCSF — confirmed in ordering system).

Identifiers

• Proband accession: 3565320 (Levi Heller)
• Mother accession: 3565318 (Miki Heller, biological)
• Father accession: 3565319 (Jacob Heller, biological)

Clinical indication

"Autism, speech delay, developmental regression and concern for overgrowth"

HPO terms submitted with the order

• HP:0001344 Absent speech
• HP:0000717 Autism
• HP:0006725 Conception by assisted reproductive technology (IVF)
• HP:0002212 Curly hair
• HP:0010862 Delayed fine motor development
• HP:0000750 Delayed speech and language development
• HP:0002376 Developmental regression
• HP:0009800 Maternal diabetes (refers to gestational carrier's gestational diabetes)
• HP:0001270 Motor delay
• HP:0001548 Overgrowth
• Pregnancy history (free text)
• HP:0002360 Sleep disturbance
• HP:0040083 Tip-toe gait

Primary result

NEGATIVE — No causative variant identified.

Secondary findings

None reported.

VUS

None reported.

Technical quality

• Average coverage: 51x
• Percent of bases at ≥15x: 97.1%
• Trio whole-genome design.

Signatory

Adenrele M. Gleason, PhD, FACMG, GeneDx

Clinical significance

This is the second negative trio germline workup on file (after Stanford 2025-05-29 exome). The genome platform expands coverage to non-coding regions, structural variants, and some regulatory elements relative to the exome, so a combined negative exome + negative genome meaningfully reduces the posterior probability of a germline single-gene Mendelian etiology. See the accompanying GeneDx mitochondrial genome report (also negative) and the April 2026 reanalysis.

Stanford EMU overnight continuous video EEG — full report + H&P + discharge summary

Admission to Stanford Lucile Packard Children's Hospital Patient Care Unit 400 (PCU400) on 2026-03-10, discharged same day. This is the EEG study that established DEE-SWAS.

Admission header

• Patient: Heller, Levi
• MRN (Stanford): 52354446
• DOB: 2020-07-02
• Account #: 76864864
• Admission date / discharge date: 2026-03-10 / 2026-03-10
• Admitting service: Neurology (Pediatric Hospital Medicine listed separately on the discharge summary)
• Attending: Katherine Brenda Xiong, MD (interpreting attending and supervising physician)
• PCP: Sky Pittson, MD (The Village Doctor, Woodside CA)
• Referring provider: Christopher William Lee-Messer, MD, PhD (Stanford Pediatric Child Neurology, 730 Welch Rd Ste 206, Palo Alto CA 94304; ph 650-723-0993)
• Primary LPCH Neurologist: Lee-Messer
• Chief complaint: 5-year-old male with autism and speech delay, recent EMU for ESES, unable to tolerate lead placement (this admission's notes refer to a prior unsuccessful EMU attempt; this admission succeeded partially)

Admission H&P — verbatim key content (Katherine Brenda Xiong, MD, 2026-03-10 0735)

Authored by Akshara Balachandra, MD, MS (Neurology PGY-3) and attested by Katherine Brenda Xiong, MD.

History of present illness

Levi is a 5-year-old male with a history of autism and speech delay first noticed at around age 2 to 3 years.

Parents also noted other features such as that he would be excited and flap his hands. Some of these things seemed normal when they first noticed them, but they persisted and they noticed that he really was not making progress in his speech, but if he was motivated, he would be able to say something like green if presented with the possibility of getting M&Ms, or he might say, "Please, mom." However, since about July of 2025, this sort of speech output has dropped to 0.

To give an example about his speech, previously, if Levi was motivated, for example, with his favorite food for M&Ms, he would say words like green or say please mom in order to get the M&Ms he wanted. But now, even with the M&Ms, which he still really likes, he will not say anything, and he previously, although he was not putting words together very much, he knew quite a large number of words that could be used individually. They have not noticed a decrease in his other skills, like his motor skills, but he is more frustrated with the decrease in his ability to communicate. He still does understand commands.

In terms of epilepsy risks, Levi has never had a seizure. He has autism but there is no history of major CNS infection or stroke. There is a maternal cousin who in adulthood has epilepsy.

Seizure risk factors: He has no history of prematurity or delayed development, no known history of febrile seizures or infections of the brain/spine or incracranial stroke/hemorrhage, no history of significant head trauma. There is no family history of seizures.

Current medications at admission

• Guanfacine liquid, 0.5 mg PO BID
• Leucovorin 15 mg PO BID
• Miralax
• Melatonin 1 mg PRN

Prior medications: None.

Patient active problem list

Past / birth history (verbatim excerpt)

Levi's parents have a history of multiple miscarriages thought secondary to maternal autoimmunity. This led to them pursuing IVF for conception with ICSI and Levi was carried by a surrogate. The pregnancy was complicated by gestational diabetes in his surrogate mother, but he was born healthy. The accelerated growth was noted around age 1 when he was at the 99th percentile for age. He had been at the 75th percentile at birth, and he has continued to be large for his age with his parents being average sized. His development was noted to be abnormal around age 2 to 3 years old with his speech being delayed, and he started speech therapy around that time. It also noted some stereotypes that at first they thought might be normal, but they persisted for age 3 and age 4, and he was not making very much progress in his speech, although as mentioned, he did used to know quite a large number of words, but was not putting them together. He also has a fine motor delay, but seems to be on track in terms of gross motor abilities. They remember that he slept okay as a baby.

Development history

• Speech delay first noted at 2–3 years old, made progress, then lost the little speech that he had a few months ago at age 5.
• Fine motor delay.
• Normal gross motor development.
• Potty trained 3/2026 (age 5).

Family history

• Mother: Hashimoto's thyroiditis.
• Maternal grandmother: multiple sclerosis and ulcerative colitis.
• Maternal cousin: epilepsy, onset around age 25.
• No family history of unexpected childhood deaths, developmental delay, learning problems, seizures, brain tumors, or other neurologic disorders.

Social / allergies / immunization

• Lives at home with parents and 3 siblings.
• Diet: regular.
• Allergies: No Known Allergies.
• Immunizations listed: Pfizer COVID-19 Vaccine 6MO to 4YO (Maroon cap) — 2022-07-11, 2022-08-15.

Physical & neurologic exam (Time of Exam: 1500)

• Gen / HEENT / Pulm / Ext / Skin: unremarkable, normocephalic, MMM, comfortable WOB, warm and well perfused.
• Neurologic exam: "Awake, alert, no speech but makes needs known. Plays pretty calmly with tablet and MOP. Facial movements spontaneously symmetric. Moves limbs against gravity symmetrically. Tone normal symmetrically."

Admission assessment & plan (verbatim)

Levi Heller is a 5-year 8-month old with autism (speech and fine motor delay) and recent speech regression who is admitted for ESES (electrographic status epilepticus of slow-wave sleep) evaluation. Has never had a seizure.

• cEEG
• No rescue needed, no IV needed.
• Lead placement to occur about 40 minutes after clonidine 0.2 mg p.o. plus risperidone 1 mg ODT
• If he removes EEG, can attempt to reinstall once if safe from tech staffing standpoint, but if we've capture a few hours of sleep, we will not rehook.
• ok for limited EEG montage if he doesn't tolerate full montage placement
• continue home meds leucovorin 15mg BID, guanfacine 0.5mg BID (first dose tomorrow given clonidine dose today)

Note completed by Akshara Balachandra, MD, MS (Neurology, PGY-3). Attending attestation by Katherine Brenda Xiong, MD (signed 2026-03-10 9:44 PM):

5-year old M with history of autism with associated speech and fine motor delay admitted for EEG background evaluation and assessment for ESES given concern for possible speech regression in the last year. Will attempt EEG placement and aim to keep on as long as tolerated - may consider replacement of electrodes if no sleep captured, but pending patient tolerance and staffing safety.

CONTINUOUS EEG REPORT — verbatim

Report header

• Name: Levi Heller | MRN: 52354446 | DOB: 2020-07-02 | Age: 5-year 8-month old male | LOC: PCU400 Observation
• Study date: 2026-03-11 1620 to 2120 (report's "Study Date" line; note that the admission was 2026-03-10 and parent note that the recording began the evening of 2026-03-10; the EEG header appears to cite the end-of-recording day 3/11; the CONTINUOUS EEG line in the body reads "3/10/2026" and the discharge summary attributes the recording to the 3/10 admission)
• Duration of study: 5 hrs
• EEG Number: E26-50
• Requesting physician / Dept: Neurology / Christopher William Lee-Messer, MD, PhD

History & indication (verbatim)

Levi is a 5-year-old male with a history of autism and speech delay first noticed at around age 2 to 3 years.

Premedicated with risperidone and clonidine.

Conditions of recording (verbatim)

This is a continuous 24-channel digital video EEG, performed using the International 10-20 System for electrode placement. Additional eye monitors and one-channel EKG were recorded for purposes of artifact detection. The recording was scanned manually by technologist and/or readers for seizures. Technical quality is satisfactory.

Interpretation (verbatim)

This EEG is ABNORMAL due to:

• Very abundant, becoming near continuous in sleep, multifocal epileptiform discharges (spike wave index increases from 78% in wakefulness to 95-100% in sleep.)

Comments (verbatim)

The presence of interictal epileptiform discharges indicates an increased risk of seizures.

Spike wave index is 95-100% at sleep onset which is above the traditional diagnostic criteria for electrical status epilepticus in sleep (ESES) of 85% or updated ESES Consortium criteria of 50%, however, management depends on clinical symptoms in association with these findings.

Detailed findings (verbatim)

Background EEG

• Awake: "The record is continuous, of normal amplitude and bilaterally symmetrical. There is a well-developed posterior dominant rhythm of 8-9 Hz. There is a moderate amount of diffuse low amplitude 15-25 Hz beta activity and an appropriate amount of 4-7 Hz theta activity during wakefulness. No significant <4 Hz delta activity is present during wakefulness."
• Sleep: "With drowsiness, there is attenuation of the background alpha activity and shift to slower frequencies. As the patient enters into light sleep, vertex waves, symmetrical spindles, and positive occipital sharp activity of sleep (POSTs) are noted. Transition to the waking state is unremarkable."
• Focal slowing: None.

Epileptiform activity (verbatim)

Very abundant, becoming near continuous in sleep, multifocal epileptiform discharges. These are seen in O1, O2, P4, T3, T4-T6,

In wakefulness, the SWI is 78%. In sleep, a spike wave index (SWI) was calculated from 1657-1702, (for 5 minutes) starting after the waking background rhythm had disappeared. Over the next 5 minutes, the number of seconds containing at least one spike wave was scored. There was a spike wave index of 95-100%. Qualitatively, SWI was as elevated continuously throughout all of non-REM sleep.

Seizures / patient events: None.

• Report prepared by: Jessie Kulaga-Yoskovitz, MD (pediatric epilepsy fellow)
• Interpreting attending: Katherine Brenda Xiong, MD
• Electronically signed: Katherine Brenda Xiong, MD on 2026-03-11 2:09 PM

Teaching physician attestation (verbatim)

I reviewed the EEG tracing and the fellow's note, discussed the case with the fellow, and agree with the documented findings above. — Katherine Brenda Xiong, MD

Discharge summary — verbatim key content

Signed Katherine Brenda Xiong, MD, 2026-03-10 2111 / 2026-03-11 2:08 PM. Authored by Jackson Toth, MD, Child Neurology PGY-5.

• Principal / final diagnosis: autism
• Principal procedure: Continuous video EEG
• Reason for admission: vEEG monitoring for spell capture and differential diagnosis
• Active hospital problems at discharge: Language regression (01/21/2026), Speech delay (01/24/2025)

Hospital course (verbatim)

Levi Heller was admitted to the EMU for EEG. He was premedicated with risperidone and clonidine. He initially tolerated EEG placement but ripped off his leads around 7:30pm. Some sleep was captured and a rough SWI is able to be calculated. Will follow up results with outpatient epileptologist.

Discharge vitals (2026-03-10 1400)

• Weight: 34.2 kg (75 lb 6.4 oz) — flagged high by the chart
• Height: 125 cm (4' 1.21")

Discharge medication plan

• START: leucovorin 15 mg tab (WELLCOVORIN) PO BID
• STOP: clonidine 0.01 mg/mL CPD oral suspension; risperidone 1 MG ODT tab (RisperDAL M-TABS)
• Sent to LPCH Outpatient & Specialty Pharmacy, 4600 Bohannon Dr. Suite 120, Menlo Park CA 94025; ph 650-497-8289
• Instructions: see AVS; no medication changes

Follow-up care

Supervising physician attestation (verbatim)

5-year old M with hx of autism and concern for language regression. Admitted for overnight EEG for capture of sleep. EEG with abundant multifocal spikes in awake and activated in sleep. Will follow up with outpatient neurologist for treatment recommendations. — Katherine Brenda Xiong, MD

What this record establishes (not verbatim — agent-level summary)

• Diagnostic anchor for DEE-SWAS: sleep SWI 95–100% exceeds both the traditional ESES threshold (≥85%) and the updated ESES Consortium threshold (≥50%).
• Wake SWI was already very high (78%) — discharges were not confined to sleep.
• Discharges are multifocal and posterior/temporal-predominant: named leads in the body are O1, O2, P4, T3, T4-T6. There is no mention of Fp1, F7, F3, or other frontal/frontotemporal foci.
• Background was preserved during wakefulness — well-formed 8–9 Hz PDR, normal sleep architecture (vertex waves, symmetric spindles, POSTs). That is notable against a backdrop of very heavy epileptiform activation.
• Study was abbreviated — ~5 hours rather than a full overnight — because Levi pulled leads around 1930. The SWI was calculated from a 5-minute sample (1657–1702), with qualitative extrapolation across non-REM sleep.
• Pre-medication for tolerance: clonidine 0.2 mg PO + risperidone 1 mg ODT ~40 min before lead placement. These are not antiseizure drugs and would not be expected to alter the spike-wave burden in either direction.

Caveats and uncertainty

• The printed "Study Date" header reads 2026-03-11 1620–2120; the body references CONTINUOUS EEG (3/10/2026) and the discharge summary attributes the study to the 3/10 admission. Both dates are preserved as given. The repo's canonical event_date remains 2026-03-10, matching the admission and the discharge summary.
• The 5-minute SWI window (1657–1702) sits on 2026-03-10 evening, not the following afternoon — another reason to anchor to 2026-03-10 for indexing purposes.
• "EMU" and "overnight" are aspirational labels — in practice lead tolerance was limited and the recording ended early.
• Lead-level detail is limited to a short enumeration ("O1, O2, P4, T3, T4-T6"); the report does not state inter-hemispheric asymmetry, hemispheric predominance, or detail beyond that list.

Pediatric autoimmune encephalitis / CNS disorder serum evaluation

Source: Stanford MyChart Test Details PDF 29. Ordering provider: Christopher Lee-Messer, MD, PhD (Stanford pediatric epileptology). Performed at Mayo Clinic Laboratories (Lab Director: Nikola A. Baumann, PhD).

Collected on March 23, 2026 — same day the first IV prednisolone pulse began (700 mg/day × 3 days, March 23-25).

Results — all negative

Important caveats

• Serum, not CSF. Some antibodies (notably NMDA-R) are more sensitive in CSF than in serum; a negative serum panel does not fully exclude CNS-compartmentalized autoimmunity.
• Sample timed at the start of IV steroid pulse. Immunosuppression can reduce measurable antibody titers and compromise sensitivity. This is a real limitation of interpreting this negative result as definitive.
• This panel targets classic adult and pediatric AE antibodies. Novel or non-panel antibodies would not be detected.

Why this matters

• A classical antibody-positive autoimmune encephalitis is unlikely based on this screen, but is not fully excluded.
• DEE-SWAS is not typically driven by these antibodies, but the differential diagnosis for steroid-responsive encephalopathy in a child with regression reasonably included them.
• Steroid responsiveness seen on subsequent EEGs should not be interpreted as proof of autoimmune pathogenesis; steroids reduce spike-wave activation in DEE-SWAS independent of autoimmunity.

Stanford outpatient 4-hour video EEG (V26-12) after first IV methylprednisolone/prednisolone pulse — full report

Performed at Stanford Children's Health Neurodiagnostics outpatient EEG lab on 2026-03-26 as a follow-up to the first IV steroid pulse.

Header

• Patient: Levi Heller | MRN (Stanford): 52354446 | DOB: 2020-07-02 | Age: 5-year 8-month old male
• Location: EEG Outpatient
• Visit: Hospital Outpatient Visit — "VIDEO EEG at Neurodiagnostics"
• Study date: 2026-03-26
• Duration: 3 h 53 min
• EEG number: V26-12
• Sedation: None additional
• Activation: Hyperventilation and Photic Stimulation (report body later says HV was not performed)
• Requesting physician: Christopher William Lee-Messer, MD, PhD
• Order: "EEG Video to 4 HRS [857042293]" ordered by Lee-Messer on 2026-03-14 1551
• Procedure-note author / interpreting attending: Katherine Brenda Xiong, MD (authored 2026-03-26 7:30 AM; report body signed 2026-03-26 12:34)

History & indication (verbatim)

5-year old M w/ hx of autism with DEE-SWAS s/p pulse dose steroids and CLB. EEG to evaluate SWI after pulse dose steroid x3.

Current outpatient medications at study time (verbatim list)

clobazam | Sympazan | clonidine 0.01 mg/mL CPD oral susp | famotidine | leucovorin | prednisone | risperidone | risperidone

(Duplicate of risperidone is as printed; "prednisone" vs. IV methylprednisolone/prednisolone pulse — chart history is reconciled in the case overview.)

Conditions of recording (verbatim)

The recording was performed with a 24-channels digital video EEG machine using the International 10-20 System electrode placements, eye movement leads, and an EKG lead (for artifact detection). Technical quality is satisfactory.

4-H vEEG — INTERPRETATION (verbatim)

This EEG is ABNORMAL due to:

• Diffuse polymorphic background slowing with intermittent biposterior delta slowing
• Abundant multifocal spikes in awake and asleep, involving the bioccipital and right/midline centroparietal regions
• Spike wave index 71.3%

Comments (verbatim)

The diffuse slowing in this record is a non-specific indicator of diffuse cerebral dysfunction -- as seen in delirium, metabolic derangement, toxicity, or other types of diffuse encephalopathy. Focal slowing indicates cerebral dysfunction from a wide variety of potential etiologies in the region affected; it is a non-specific indicator of a structural or functional abnormality. Focal epileptiform potentials can be seen in patients with partial-onset seizures, but do not in themselves confirm a diagnosis of seizures or epilepsy.

Spike wave index is 71.3% at sleep onset which is below the traditional diagnostic criteria for electrical status epilepticus in sleep (ESES) of 85% or updated ESES Consortium criteria of 50%, however, management depends on clinical symptoms in association with these findings.

Overall interictal discharge is decreased from prior EEG (3/10/2026)

Detailed findings (verbatim)

Background EEG

• Awake: "The record is continuous, of normal amplitude and bilaterally symmetrical. There is diffuse background slowing with predominate theta-delta frequencies; at times a posterior dominant rhythm of 6-7 Hz is noted. There is a moderate amount of diffuse low amplitude 15-25 Hz beta activity"
• Sleep: "With drowsiness, there is attenuation of the background alpha activity and shift to slower frequencies. As the patient enters into light sleep, vertex waves and poorly formed spindles are noted. K-complexes are noted in sleep. Transition to the waking state is unremarkable."
• Photic stimulation: "No significant photic driving response is noted."
• Hyperventilation: "Not performed."

Focal slowing

• "Intermittent biposterior delta slowing, at times with embedded left occipital spikes"

Epileptiform activity (verbatim)

There are abundant multifocal spikes in awake and asleep, including:

• Abundant left occipital (O1) spikes, often in 4-5 Hz periodic runs
• Frequent to abundant, independent low amplitude right centro-parietal (C4-P4)/midline centro-parietal (Cz/Pz) spikes
• Frequent to abundant right temporal (T4) spikes in sleep
• Frequent to abundant right occipital (O2) spikes in sleep

A spike wave index (SWI) was calculated from 083229-083729, (for 5 minutes) starting after the waking background rhythm had disappeared. Over the next 5 minutes, the number of seconds containing at least one spike wave was scored. There were 214 seconds with spikes out of 300 seconds, for a spike wave index of 71.3%. Qualitatively, SWI was not as elevated continuously throughout all of non-REM sleep.

Seizures / patient events

No seizures or push button events

• Report prepared by: Katherine Brenda Xiong, MD (2026-03-26 12:34)
• Interpreting attending: Katherine Brenda Xiong, MD

Lee-Messer communication to parent (MyChart thread "EEG looks better")

Dr. Lee-Messer — 2026-03-26 4:21 PM (verbatim)

Hi the EEG is significantly better. It will depend on which 5 minute segments are counted, but I would estimate the Spike-wave index/burden is 20-60%.

How is the Sympazan version of the clobazam.

-Chris

Parent reply (verbatim, 2026-03-26 4:25 PM)

Wow. I have many questions. First — do you think this is a result of the steroids? Or do you think there's some other explanation?

Second — very curious to hear what you think this means for going forward. In your experience, when someone has this sort of drop, what happens in subsequent months?

Any guesses about what this means for root cause?

We actually haven't started the Sympazan yet, the pharmacy was out of stock and only got it in last night. I was going to pick it up today — do you still think we should stack both?

Happy to phone as always if that's easier.

Dr. Lee-Messer — 2026-03-27 11:26 AM, "Here is my documentation for our call" (verbatim)

Levi is a 5-year old with newly diagnosed epileptic encephalopathy, developmental regression, autism and macrocephaly and overgrowth features.

He recently received his first dose of IV pulse steroids x 3 days at 20 mg/kg/day and tolerated it well with risperidone 1mg and clonidine 0.15 mg before procedure.

His EEG shows significant improvement and likely more focality with O1 > O2 > T4 spike foci than first EEG.

3/26/2026 4 h EEG showed significant improvement over prior EEG. My read showed spike-wave burdens 20-60% overall. Worse in sleep.

The thread includes a pasted copy of the official report, concluded with Lee-Messer's own note:

Also, notable is more focality with O1 being prominent focus

What this record establishes (not verbatim — agent-level summary)

• Strong treatment response to the first IV steroid pulse: official sleep SWI dropped from 95-100% (pre-pulse, 2026-03-10) to 71.3% (post-pulse, 2026-03-26). Lee-Messer's own read was "20-60% overall." Both are consistent with substantial but incomplete suppression.
• 71.3% is below the traditional ESES criterion (≥85%) but still above the updated ESES Consortium criterion (≥50%).
• Background changed direction: pre-pulse record had a well-formed 8-9 Hz PDR; post-pulse record has diffuse polymorphic slowing with a slower 6-7 Hz PDR, intermittent biposterior delta, poorly formed spindles. This is a non-specific sign of diffuse cerebral dysfunction per the report. It is not diagnostic of improvement or worsening by itself.
• Discharge topography shifted toward focality: pre-pulse foci were O1, O2, P4, T3, T4-T6 (multifocal, bilateral); post-pulse named foci are O1 (abundant, 4-5 Hz periodic runs), C4-P4/Cz/Pz (right/midline centroparietal), T4, and O2. Lee-Messer's comment is "more focality with O1 being prominent focus."
• Still no Fp1 or F7 involvement documented. All named foci remain posterior/temporal/central-parietal. Under this report wording, Epihunter's stated requirement for Fp1-F7 spike/discharge patterns is not met by this study either.
• Seizures: none documented.
• Photic: no driving response; hyperventilation not performed.

Caveats and uncertainty

• "Pulse dose steroids x3" in the indication line refers to three consecutive daily doses of the first IV pulse. The case overview records this as 700 mg prednisolone daily on 2026-03-23 to 2026-03-25, which is consistent with Lee-Messer's documentation of "20 mg/kg/day × 3 days" given Levi's discharge weight of 34.2 kg (~684 mg/day at exactly 20 mg/kg).
• The med list at the time of the study shows "prednisone" rather than "methylprednisolone" — possible EMR coding artifact. The substance and dose are reconciled in the case overview and differential.
• "Activation" in the header says both HV and photic, but the detailed findings say HV was not performed. Preserve both as reported.
• Lee-Messer's SWI estimate (20-60%) is broader and lower than the official 71.3%, reflecting methodological sensitivity to which 5-minute window is scored. Both are preserved.

UCSF video-EEG monitoring daily report, 2026-04-06 to 2026-04-07

Header

• Patient: Levi Heller | UCSF MRN: 13370982 | DOB: 2020-07-02 | PCP: Sky Pittson, MD
• Attending / referring physician: Aylin Sevil Ulku, MD
• Epilepsy/EMU attending(s) and dates of service: Clare Timbie, MD, PhD — 04/06 to 04/07/2026
• Epilepsy fellow: Omolara Kolawole, MD
• Ordering provider (on UCSF MyChart test details): Genesis Trejo
• Authorizing provider: Aylin Ulku
• Report author: Clare Margaret Timbie, MD — UCSF Epilepsy Center, 400 Parnassus Avenue 8th Floor, San Francisco CA 94143-0216. Tel (415) 353-2437 / Fax (415) 353-2837. Signed 2026-04-07 4:22 PM.
• Room/bed: C5893/C5893-26
• Study start: 2026-04-06 at 1602
• Study stop: 2026-04-07 at 1221, study completed
• Resulting lab: UCSF EEG
• Result date: 2026-04-07 3:12 PM
• Result status: Final

Object of recording (verbatim)

5 y.o. male with a history of autism spectrum disorder, developmental regression, with recent diagnosis of epileptic encephalopathy (3/2026) of unclear etiology undergoing video-EEG monitoring in order to evaluate his interictal discharge burden.

Conditions of recording (verbatim)

Recordings were obtained using a standard international 10-20 electrode placement in a 19-channel standard recording supplemented with a single electrocardiogram chest electrode. The recordings were obtained using a reference electrode and reformatted into bipolar montages for review. Concurrent continuous video recording was utilized. Throughout the entire monitoring evaluation, a video sitter (EEG technologist) observed the patient in real-time. The Natus/Persyst spike and seizure detection computer program was used to screen the EEG. An epilepsy fellow and the attending neurologist reviewed the entire recording including detections. They also reviewed concurrent EEG and Video during episodes of interest.

Findings — daily summaries and detailed seizure data

Day 1: 2026-04-06 from 1602 to 2359

• Relevant medications: No antiepileptic or general anesthetic medications.
• Background: "The waking background at rest was continuous, composed of an admixture of largely delta, alpha and beta frequencies. The expected anterior-posterior voltage and frequency organization was present but mildly reduced, with intermixed faster frequencies anteriorly and a symmetric and well-formed posterior dominant alpha rhythm of 7 Hz that was reactive to eye opening. There were no interhemispheric asymmetries or areas of focal slowing."
  • "During sleep, normal sleep architecture emerged including vertex waves, sleep spindles, and K complexes."
• Interictal: "There were interictal epileptiform abnormalities including"
  • "Occasional bursts of multifocal spike-wave discharges at P7/F4/T8 and T7"
• Ictal / push-button events: "There were no electrographic or clinical seizures."

Day 2: 2026-04-07 from 0000 to 1221

• Relevant medications: Unchanged
• Background: Unchanged
• Interictal: Unchanged
• Ictal / push-button events: None

Impression (verbatim)

This continuous Video-EEG monitoring study was abnormal due to:

• Mild diffuse slowing and reduced organization, a non-specific finding suggestive of global cerebral dysfunction.
• Occasional multifocal spike-wave discharges suggestive of multifocal epileptogenic potential.

What this record establishes (not verbatim — agent-level summary)

• Near-resolution of the spike-wave burden that had defined DEE-SWAS: pre-steroid SWI was 95–100% in sleep (2026-03-10); post-first-pulse SWI was 71.3% (2026-03-26); UCSF at 2026-04-06 describes only "occasional bursts of multifocal spike-wave discharges" across a nearly 20-hour continuous recording. No SWI percentage is stated on this report because the burden was low enough that clinicians described it qualitatively as "occasional."
• PDR is well-formed at 7 Hz and reactive to eye opening — improved qualitative background organization compared to the 2026-03-26 post-pulse Stanford EEG (which had a slower 6-7 Hz PDR with diffuse polymorphic slowing and poorly formed spindles). "Normal sleep architecture" was noted during sleep with vertex waves, spindles, and K complexes present.
• "Mild diffuse slowing and reduced organization" remains as a non-specific finding — the impression explicitly calls it suggestive of global cerebral dysfunction but not localizing.
• No seizures were captured across the ~20 hours of continuous monitoring.
• Named foci: P7, F4, T8, T7. This is the first EEG in the case where a frontal lead (F4, right frontal) is named. The left posterior/temporal (P7, T7) and right mid-temporal (T8) discharges remain consistent with the broader posterior/temporal picture, but F4 is genuinely new relative to the Stanford reports. Fp1 and F7 are still not named.
• Medications at the time of this study: the report explicitly notes "No antiepileptic or general anesthetic medications." This is clinically important because it means the near-resolution of the spike burden is documented without active antiseizure drug load, and is reasonably attributable to the ongoing post-pulse effect and whatever medication state Levi was actually on when this UCSF admission happened (the case history has him on clobazam/Sympazan + steroids at varying points — this UCSF report documents none of those on the record).

Relation to the Epihunter question

Named foci in this UCSF study are P7, F4, T8, T7. In the standard international 10-20 naming:

• P7 is the left parietotemporal position (formerly called T5 in older 10-20 nomenclature). Left temporo-occipital.
• T7 is the left mid-temporal position (formerly called T3). Left temporal.
• T8 is the right mid-temporal position (formerly called T4). Right temporal.
• F4 is the right frontal position (mid-frontal, not frontotemporal).

Fp1 and F7 are not named in any of the three ingested EEG reports. The Epihunter tool's stated requirement — specific spike or discharge patterns in the Fp1-F7 derivation (left anterior / frontotemporal bipolar pair) — is not supported by the reported discharge topography of any of Levi's EEGs.

Caveats and uncertainty

• The UCSF report does not provide a numeric SWI for this study. "Occasional" is qualitative; an exact percentage is not derivable from the report alone.
• The report says "no antiepileptic or general anesthetic medications" during monitoring, but does not reconcile with Levi's broader outpatient med list at that date range. The impact of clobazam, ongoing steroid taper, or other agents on discharge burden should be read from the full medication timeline rather than from this single report.
• Lead naming is given only in the standard 10-20 modern nomenclature (P7/F4/T7/T8). There is no bipolar-pair-level detail (e.g., "Fp1-F7", "F7-T7", "T7-P7") — only referential lead names of peak discharge.

CMP, lipid panel, hsCRP - April 6, 2026

Composite extraction of Stanford MyChart Test Details PDFs 30-32, all from April 6, 2026. Authorizing provider: Jonathan Bernstein, MD, PhD (Stanford medical genetics). Collected the day before the April 7 follow-up EEG and brain MRI.

Comprehensive Metabolic Panel (MyChart 30) — resulted Apr 06, 2026 12:47 PM

Units on Stanford report: mmol/L for electrolytes and anion gap (not mEq/L).

• Sodium: 136 mmol/L (ref 135-145)
• Potassium (Ser/Plas): 5 mmol/L (ref 3.5-5.5) — PDF note "Hemolysis present, may tend to increase result"
• Chloride: 105 mmol/L (ref 98-107)
• CO2: 18 mmol/L LOW (ref 22-29) — persistent low from prior draws. PDF footnote: falsely low bicarbonate if triglycerides >1000 mg/dL.
• Anion gap: 13 mmol/L (ref 5-15)
• Glucose (Ser/Plas): 79 mg/dL (ref 70-140 fasting; PDF note — non-fasting values may be higher)
• Creatinine (Ser/Plas): 0.27 mg/dL LOW (ref 0.29-0.47; IDMS-traceable method; PDF footnote on indwelling-catheter + catecholamine interference for peripheral-draw recommendation)
• eGFR Refit Without Race (2021): N/A — PDF note: eGFR not valid <18 years
• BUN: 8 mg/dL (ref 5-18)
• Calcium (Ser/Plas): 9.8 mg/dL (ref 8.8-10.8)
• Total protein (Ser/Plas): 6.9 g/dL (ref 5.7-8.0)
• Albumin (Ser/Plas): 4.1 g/dL (ref 3.8-5.4) — note: discrepant with same-day UCSF albumin 3.3
• Total bilirubin: 0.4 mg/dL (ref <1.0)
• Alkaline phosphatase: 234 U/L (ref 142-335)
• AST (SGOT): 55 U/L HIGH (ref <53) — PDF note "Hemolysis present, may tend to increase result"; UCSF same-day AST 23 confirms specimen artifact, not hepatocellular injury
• ALT (SGPT): 19 U/L (ref 10-50)
• Globulin: 2.8 g/dL (ref 2.0-5.0)

Performing lab: SHC Lab - Hospital Laboratory; Dr. Christina Kong, Clinical Laboratory Medical Director.

Lipid panel with calculated LDL (MyChart 31) — resulted Apr 06, 2026 12:47 PM

• Cholesterol, Total: 159 mg/dL (ref <170)
• Triglycerides (Ser/Plas): 86 mg/dL (ref <150)
• HDL Cholesterol: 63 mg/dL (ref >40)
• LDL Calculated (NIH): 80 mg/dL (ref <130)
• Cholesterol/HDL ratio: 2.5 (ref <5.0)
• Non-HDL Chol, Calc: 96 mg/dL (ref <160)
• LDL/HDL ratio: 1.3 (ref <3.0)
• All within normal limits. Same performing lab as CMP.

hsCRP (MyChart 32) — resulted Apr 06, 2026 1:08 PM

• High Sensitivity CRP: <0.2 mg/L (ref <5.0)
• PDF note: "Results Rechecked."
• Rules out significant systemic inflammation at the time of MRI. Same performing lab as CMP.

Interpretive notes

• Persistently low CO2 across May 2024 (20), April 2026 (18), with normal anion gap — suggests either a chronic mild metabolic acidosis (non-gap) or chronic compensatory hyperventilation. Worth revisiting with a clinician; renal tubular acidosis and chronic hyperventilation are two plausible explanations.
• Elevated AST with normal ALT is commonly hemolysis-related (flagged on the report); if this persists on non-hemolyzed specimen it would warrant further workup. No pattern of hepatocellular injury is established.
• Normal hsCRP before the April 7 MRI is meaningfully reassuring that the nonspecific white matter signal is not being driven by active systemic inflammation.
• Normal lipids make a lipid-related neurologic process implausible.
• Jonathan Bernstein MD PhD is a Stanford medical genetics attending; the pattern of April 6 labs is consistent with a pre-genetics-visit workup baseline.

UCSF blood workup — April 6, 2026 17:10

Composite extraction of UCSF MyChart Test Details PDFs 29, 33, 34, 35, 36, 37, 38, 41, 55, 57 — all collected together at Apr 6, 2026 5:10 PM. Ordering providers: Genesis Trejo (folate, IgG, thyroglobulin Abs, TPO Abs, cytokine panel) and Marie Uwamahoro (CBC, CMP, IgM, IgE, IgA). Authorizing provider: Aylin Ulku. UCSF China Basin Lab (William Karlon MD PhD director), UCSF Mission Bay Lab (Linlin Wang MD PhD director), ARUP Reference Lab for cytokine panel.

This is the UCSF baseline draw on the day before the April 7, 2026 lumbar puncture and MRI. Draws appear to be part of the UCSF comprehensive DEE-SWAS etiologic evaluation.

CBC with auto-differential (MyChart 33) — all normal

• WBC 6.9 K/μL (normal; major shift from Jan 16, 2026 Stanford WBC 24.2)
• Hgb 11.6 g/dL, Hct 36.6%
• MCV 78 fL (low-normal, modestly recovered from Stanford MCV 74-75 range)
• MCH 24.7 pg
• Platelets 279 K/μL
• Neutrophils 3.65, Lymphocytes 2.24, Monocytes 0.85, Eosinophils 0.05, Basophils 0.05

CMP (MyChart 34) — mostly normal with a few flags

• Na 137, K 3.5, Cl 107, CO2 21 (normal on UCSF scale 17-26, same value flagged low on Stanford scale 22-29)
• Anion gap 9, Glucose 113 (likely non-fasting afternoon draw), BUN 9
• Creatinine 0.29 mg/dL LOW — consistent with prior pattern, likely pediatric low muscle mass
• Ca 9.3, Total protein 6.5
• Albumin 3.3 g/dL LOW (normal 3.5-4.5) — discrepant with same-day Stanford albumin 4.1 g/dL; unclear which is correct
• ALT 14, AST 23 (confirms Stanford AST 55 with hemolysis flag was artifact)
• Alk phos 217, Total bili 0.3

Immunoglobulins (MyChart 35-38)

• IgG 518 mg/dL LOW (normal 532-1,340) — borderline low (14 mg/dL below reference cutoff)
• IgM 93 mg/dL (normal 26-188) — normal
• IgA 44 mg/dL (normal 27-195) — normal
• IgE <21 IU/mL (normal <60) — normal
• The isolated mildly low IgG is potentially relevant if a humoral immune deficiency is on the differential, but is close enough to the cutoff that a repeat level is reasonable before making anything of it.

Folate and thyroid antibody screen (MyChart 29, 41, 55)

• Serum folate 34.8 ng/mL (normal ≥11.9) — replete, argues against a cerebral folate insufficiency mimicking a folate-responsive epileptic encephalopathy driven by dietary deficiency; does not address specific CSF folate status
• Thyroglobulin Abs <2.00 IU/mL (normal <2.00) — negative
• Thyroperoxidase (TPO) Abs <63 WHO Units (normal ≤100) — negative
• Combined negative thyroglobulin Abs + negative TPO Abs + normal thyroid exam argues against Hashimoto encephalopathy / SREAT.

Cytokine Panel 13 — Serum (MyChart 57, ARUP Reference Lab) — ABNORMAL

This is a meaningful finding. Five cytokines elevated out of 13 — predominantly a Th1 / Th17 signature (IFN-γ, IL-17, TNF-α, sIL-2R) with co-elevation of IL-13 (typically Th2). sIL-2R is a nonspecific marker of T-cell activation and is elevated in lymphoma, HLH/MAS, sarcoidosis, and some autoinflammatory states. IFN-γ + TNF-α + IL-17 + sIL-2R co-elevation in a 5-year-old with epileptic encephalopathy is worth flagging to the UCSF team as a concurrent inflammatory signal — although this test is a research/experimental panel (ARUP-developed, not FDA-cleared) and reference ranges are based on a generic cohort. It is not, on its own, diagnostic of a specific entity.

Important: these are serum cytokines, not CSF. CSF cytokine levels would be far more informative for CNS-compartmentalized inflammation.

Interpretive notes

• The acute Jan 16, 2026 leukocytosis (WBC 24.2) has fully resolved by Apr 6 (WBC 6.9) — the mid-January event was self-limited.
• Persistent low MCV pattern is modestly improved (MCV 74 → 78); iron deficiency is still the working explanation.
• Hemolysis artifact resolved: Stanford AST 55 (with hemolysis flag) was the specimen, not the patient — confirmed by normal UCSF AST 23 seven hours later.
• Borderline-low IgG warrants a repeat and an IgG subclass panel if a humoral immunodeficiency framing is taken seriously.
• Negative thyroid Abs makes Hashimoto encephalopathy unlikely.
• Abnormal cytokine panel with Th1/Th17 signature is the most clinically provocative finding of this draw — worth explicit follow-up with the UCSF neurology and immunology teams. Consider CSF cytokines in a future LP if clinically feasible.

Diagnostic lumbar puncture — April 7, 2026 15:03

Composite extraction of UCSF MyChart Test Details PDFs 49, 50, 51, 52, 53, 54, 56, 58. Specimen: Cerebrospinal fluid (lumbar puncture). Ordering provider: Genesis Trejo. Authorizing provider: Aylin Ulku.

Performing labs:

• UCSF Mission Bay Lab (Linlin Wang MD PhD): cell count and differential, lactate, protein, glucose
• UCSF Lab 505 Parnassus (Anne Deucher MD PhD): panel summary
• ARUP Reference Lab: oligoclonal bands (Jonathan R. Genzen MD PhD, director)
• Quest Diagnostics Nichols Institute (Chantilly, VA; P.W. Mason MD PhD): pyruvate

This is an important new event: a diagnostic LP was performed at UCSF the same day as the MRI, presumably as part of the comprehensive DEE-SWAS etiologic workup. No CSF record had been captured previously.

CSF cell count (MyChart 50, Tube 4)

• CSF appearance: Cloudy (flagged abnormal)
• Xanthochromia: Negative
• Total nucleated cells (TNC): 2 x10E6/L (normal <6) — no pleocytosis
• RBC: 1,850 x10E6/L (normal 0) — consistent with traumatic tap
• The cloudy appearance is almost certainly explained by the high RBC count in a traumatic LP rather than true CSF purulence or pleocytosis.

CSF differential (MyChart 49)

• Neutrophils: 20% (flagged high; reference only established for neutrophil parameter; ≤0%)
• Lymphocytes: 58%
• Monocytes/Histiocytes: 21%
• Eosinophils: 1%
• Total cells counted: 100

CAVEAT: the UCSF lab notes "A reference range has not been established … except for neutrophil parameter. Clinical correlation required." In the setting of a traumatic tap with 1,850 RBC, peripheral blood contamination is expected and the 20% neutrophil reading is more likely reflective of blood contamination than genuine CSF neutrophilic pleocytosis. The absolute TNC of 2 cells/μL is reassuring and consistent with no true CNS inflammatory cellular response.

CSF chemistries

• Protein 23 mg/dL (normal 10-40) — normal
• Glucose 59 mg/dL (normal 40-70) — normal; unremarkable CSF:serum glucose ratio
• Lactate 1 mmol/L LOW (normal 1.1-2.8) (MyChart 51) — normal-low; strongly argues against mitochondrial encephalopathy with CNS involvement
• Pyruvate 1.32 mg/dL (normal 0.50-1.70) (MyChart 58) — normal
• Together, normal CSF lactate/pyruvate makes a cerebral lactic acidosis / primary mitochondrial encephalopathy unlikely at this single timepoint.

Oligoclonal bands (MyChart 56, ARUP)

• CSF OCB: 0 bands, NEGATIVE
• Paired serum: also 0 bands
• Interpretation: "Isoelectric focusing/immunofixation revealed no oligoclonal bands in either the CSF or the serum. This is considered to be a negative result for oligoclonal bands. Approximately 5 percent of patients with clinically definitive multiple sclerosis will have a negative result."
• This argues strongly against intrathecal immunoglobulin synthesis / CNS-compartmentalized humoral autoimmunity of the MS-like pattern. It does not exclude antibody-mediated encephalitis with antibodies compartmentalized in ways that do not produce OCB.

Clinically important negatives / what this workup does

• No pleocytosis (TNC 2) — argues against an active infectious meningoencephalitis
• No elevated CSF protein — argues against a blood-brain barrier disruption at this timepoint
• No CSF lactate/pyruvate elevation — lowers the prior probability of primary mitochondrial disease
• Negative OCB — lowers the prior probability of classical humoral CNS autoimmunity

What this workup does NOT address (important caveats)

• CSF autoimmune encephalitis antibody panel is not in this set; the 2026-03-23 serum AE panel was negative but CSF would be more sensitive for NMDA-R and some other targets. It is unclear from these PDFs whether a CSF AE panel was also sent from this LP.
• CSF cytokine panel was not sent, despite serum cytokines being elevated on Apr 6 (sIL-2R, IFN-γ, TNF-α, IL-13, IL-17). CSF cytokines would be the more relevant compartment for ongoing CNS inflammation.
• CSF neopterin, CSF neurotransmitter metabolites (5-HIAA, HVA), and CSF folate are not in this panel — these would be the most important additional CSF analytes for a child with epileptic encephalopathy of unknown etiology. Worth asking whether they are pending or planned.
• Traumatic tap compromises interpretation of RBC, neutrophil %, and CSF protein (per lab's own note). A repeat LP may be needed if any result is borderline-relevant and requires confirmation.

Provider context

• Ordering clinician: Genesis Trejo (UCSF — appears on multiple UCSF orders; likely NP/PA in neurology or pediatrics)
• Authorizing clinician: Aylin Ulku (UCSF — appears on every UCSF authorization; likely attending)
• No explicit neurologist name appears on this LP paperwork; confirm with family.

UCSF Brain MRI with and without contrast, with MR Spectroscopy — full report

Exam performed 2026-04-07 at 2:20 PM at UCSF Radiology Mission Bay MRI (phone 415-476-1568), as part of the UCSF Benioff Children's Hospital / UCSF Medical Center system. Ordering physician: Murtaza Nasir Ali. Dictated by Elham Beheshtian, MD (Department of Radiology and Biomedical Imaging). Electronically signed by Charlie Yi Wang, MD, PhD (neuroradiology). Exam Status: Final.

Exam header metadata

• Accession Number: 10026670374
• MRN: 13370982
• Patient: Heller, Levi
• Date of Birth: 7/2/20
• Exam Date/Time: 04/07/2026 2:20 PM
• Exam(s): MR BRAIN WITH AND WITHOUT CONTRAST (MR spectroscopy performed as part of the study, not as a separately-billed exam)
• Facility: UCSF Radiology Mission Bay MRI
• Phone: 415-476-1568

Indication (as provided by referring clinician)

Seizure

Additional history (verbatim from the report)

History of autism spectrum disorder, developmental regression, with recent diagnosis of epileptic encephalopathy (3/2026) of unclear etiology. Previous EEG showed abundant multifocal spikes mostly left occipital spikes and right centroparietal/mid centroparietal spikes.

Comparison

None. (No prior imaging available at UCSF for comparison.)

Technique

• Field strength: 3.0 tesla (3T)
• Sequences: "Multiple sequences through the brain were acquired at 3.0 tesla." The individual sequence list (T1, T2, FLAIR, DWI, SWI, post-contrast T1) is not enumerated by name in the dictated report.
• Contrast: Dotarem 7 mL IV (Dotarem = gadoterate meglumine; a macrocyclic gadolinium-based contrast agent).
• MR spectroscopy: single voxel, over the left basal ganglia.

Findings (verbatim from the report)

Verbatim FINDINGS block from the dictated report:

No acute hemorrhage. No herniation. Areas of patchy preventricular deep white matter abnormalities, right greater than left, without associated enhancement, nonspecific. No reduced diffusion or abnormal susceptibility. No abnormal parenchymal, leptomeningeal, or dural enhancement. No definite cortical migrational abnormality. Bilateral hippocampi abnormal structures.

Ventricles within normal limits of size for age. No extra-axial collection.

MR spectroscopy performed over the left basal ganglia is unremarkable.

Structured restatement

• No acute intracranial hemorrhage, no herniation, no midline shift.
• No cortical migrational abnormality.
• Patchy periventricular and deep white matter T2/FLAIR hyperintensities, right greater than left (R>L). No associated mass effect. No enhancement.
• No reduced diffusion to suggest acute ischemia.
• No abnormal susceptibility.
• No abnormal parenchymal, leptomeningeal, or dural enhancement post-contrast.
• Bilateral hippocampi: see explicit note below — the FINDINGS section verbatim contains the phrase "Bilateral hippocampi abnormal structures," which human review of the report has treated as a likely dictation artifact because the IMPRESSION explicitly says "No structural abnormality for seizure" and the reading is internally inconsistent if hippocampal structures are truly abnormal. Preserved as stated by the PDF here for provenance; human-review-adjudicated interpretation carried forward downstream is that hippocampi are structurally unremarkable. Flagging for explicit clinician re-review at the next UCSF neurology visit.
• Ventricles within normal limits of size for age.
• No extra-axial collection.

MR Spectroscopy

• Single-voxel spectroscopy over the left basal ganglia is unremarkable — the report states only "unremarkable" without numeric NAA/Cr/Cho ratios. No lactate peak is mentioned. MR spectroscopy was not obtained over the periventricular white matter lesions or the hippocampi.

Impression (verbatim from the report)

1. No structural abnormality for seizure.
2. Nonspecific patchy periventricular deep white matter FLAIR signal changes, right greater than left, of uncertain clinical significance, may represent sequela of prior injury.

(The report's numbered IMPRESSION has only these two items; MR spectroscopy is discussed in FINDINGS but is not re-stated in IMPRESSION as a third numbered item, despite prior record framing it that way.)

Report signatories

• Dictated by: Elham Beheshtian, MD
• Signed by: Charlie Yi Wang, MD, PhD
• Department: UCSF Radiology and Biomedical Imaging

Agent notes (not from the report)

• "Sequela of prior injury" is an impression phrase, not a mechanistic claim. It is compatible with prior hypoxic-ischemic insult, prior inflammatory injury, or nonspecific gliosis; it does not identify the cause.
• MR spectroscopy was normal over basal ganglia. The white matter lesions were not spectroscopically interrogated.
• No evidence of cortical dysplasia, tuberous sclerosis stigmata (no tubers, no SEGAs), hemimegalencephaly, or focal cortical thickening by this reading.
• Hippocampi finding handling: The PDF FINDINGS section verbatim contains "Bilateral hippocampi abnormal structures." The earlier draft of this record took that literally. A 2026-04-17 human review concluded this is very likely a radiologist dictation artifact — the IMPRESSION section explicitly states "No structural abnormality for seizure," which would be internally contradictory if the hippocampi were actually abnormal; and no specific hippocampal abnormality (sclerosis, rotation, signal change, volume loss) is described. The human-reviewed working interpretation is that the hippocampi are structurally unremarkable. We preserve both the verbatim PDF text and the human-review interpretation rather than silently overwriting one with the other. Action item: confirm with UCSF neuroradiology or the primary UCSF neurology team at the next visit.
• Contrast was Dotarem (gadoterate meglumine, macrocyclic GBCA) at 7 mL IV. No adverse reaction noted in the report.

2026-04-17 audit corrections

• Added accession number (10026670374), exam time (2:20 PM), facility phone (415-476-1568), clinical indication ("Seizure") and verbatim additional history, comparison statement ("None"), field strength (3.0 T), contrast details (Dotarem 7 mL IV), and verbatim FINDINGS and IMPRESSION blocks. These fields were absent from the prior extraction.
• Reconciled the hippocampi finding: preserved the verbatim PDF text "Bilateral hippocampi abnormal structures" and preserved the 2026-04-17 human review adjudication that the hippocampi are structurally unremarkable. Flagged for clinician re-review.

UCSF serum studies pre-LP — April 7, 2026

Composite extraction of UCSF MyChart Test Details PDFs 42-48, all collected on April 7, 2026. Ordering providers: Genesis Trejo (albumin-for-IgG-index, iron studies, ferritin) and Marie Uwamahoro (lipid, lactate, glucose, ammonia). Authorizing provider: Aylin Ulku. Performing lab UCSF MISSION BAY LAB (1975 4th Street, San Francisco CA 94158), Linlin Wang, MD, PhD (lab director), CLIA 05D2086535. PCP on MyChart header Sky Pittson, MD; MRN 13370982.

Draws:

• 13:20: lipid panel, lactate (plasma), glucose fasting, iron studies, ferritin, albumin (for IgG index)
• 14:32: ammonia (separate tube, different collection time)

Context: drawn the same day as (and immediately before) the 15:03 diagnostic lumbar puncture and brain MRI.

Lipid panel (MyChart 42) — resulted Apr 07, 2026 3:58 PM

Uses UCSF pediatric lipid reference ranges (different from adult ranges).

• Cholesterol, Total: 143 mg/dL (Acceptable <170; Borderline 170-199; High >199) — normal
• HDL Cholesterol: 48 mg/dL (Acceptable >45; Borderline 40-45; Higher risk <40) — normal
• LDL Cholesterol: 43 mg/dL (Acceptable <110; Borderline high 110-129; High >129) — normal
• Triglycerides: 262 mg/dL HIGH (Acceptable if fasting <75; Borderline high if fasting 75-99; High if fasting >99) — flagged High on report
• Non-HDL Cholesterol: 95 mg/dL (Acceptable <120; Borderline high 120-144; High >144) — normal
• Cholesterol/HDL Ratio: 3.0 (<6.0) — normal

The UCSF pediatric triglyceride reference (<75 fasting) is much tighter than the Stanford adult reference (<150). On the Stanford adult cutoff, 262 would still be flagged high but closer to the boundary. Regardless, the value is discrepant with Stanford the day before (Apr 6 triglycerides 86) — likely reflects a non-fasting afternoon UCSF draw rather than a meaningful metabolic shift. The same-draw "fasting glucose 88" label on MyChart 44 is inconsistent with a Trig 262, suggesting the patient was not actually fasting; worth noting as a specimen/collection caveat.

Lactate, plasma (MyChart 43) — resulted Apr 07, 2026 3:52 PM

• Lactate, plasma: 0.9 mmol/L — flagged Low on report (normal 1.0-2.4)
• Specimen labeled "Lactate, plasma" on the UCSF report (not serum — prior record mislabeled as serum; corrected on 2026-04-17 audit).
• Low-normal plasma lactate argues against active systemic mitochondrial dysfunction (though does not exclude tissue-specific mitochondrial disease).

Glucose, fasting (MyChart 44) — resulted Apr 07, 2026 3:58 PM

• Glucose, Fasting, Plasma/Serum: 88 mg/dL (normal 70-99) — normal
• Labeled "fasting" on the UCSF report, but inconsistent with the same-draw triglycerides 262; treat fasting status as uncertain.

Iron studies (MyChart 45) — resulted Apr 07, 2026 3:58 PM

• Iron, Plasma/Serum: 56 μg/dL (normal 16-128; UCSF pediatric range is wide) — within reference, mid-low-normal
• Transferrin, Plasma/Serum: 313 mg/dL (normal 220-337) — upper-normal
• Transferrin % Saturation: 13% (normal 7-39%; UCSF pediatric range is wider than the typical adult reference) — within reference; no Low flag on the UCSF report
• TIBC not separately reported.

Correction from prior record: prior YAML and body prose treated transferrin saturation 13% as explicitly flagged Low. The PDF's UCSF pediatric reference is 7-39% and the report does not carry a Low flag on this value. The clinical pattern of mid-low-normal iron + upper-normal transferrin + low-end transferrin saturation remains consistent with iron-restricted erythropoiesis, but the report itself does not mark the value as abnormal. Corrected on 2026-04-17 audit.

Ferritin (MyChart 46) — resulted Apr 07, 2026 4:06 PM

• Ferritin, Plasma/Serum: 27 ng/mL (normal 14-79) — within reference range, but low in the clinical context
• Important trajectory: Jan 16, 2026 Stanford ferritin was 66 ng/mL, coincident with acute leukocytosis (WBC 24.2) — that ferritin was likely inflated by acute-phase reactant kinetics. Apr 7 ferritin of 27 is the more representative "baseline" iron store value and supports ongoing true iron deficiency.

Albumin for IgG index (MyChart 47) — resulted Apr 07, 2026 4:55 PM

• Albumin, Plasma/Serum: 3.7 g/dL (normal 3.5-4.5) — normal
• Drawn as serum albumin for paired CSF:serum IgG and albumin index calculation (part of the oligoclonal band workup).

Ammonia (MyChart 48) — resulted Apr 07, 2026 3:57 PM

• Ammonia: 29 μmol/L (normal 16-68) — normal
• Separate draw at 14:32 PM (ammonia requires a separate tube and prompt-processing protocol).
• Normal ammonia rules out a urea cycle disorder and related hyperammonemic encephalopathies at this draw. Consistent with the January 2026 normal plasma amino acids and normal MMA.

Interpretive notes

• Persistent iron-restricted erythropoiesis pattern: low-end transferrin saturation 13% (UCSF pediatric range) combined with ferritin 27 ng/mL (unmasked by resolved inflammation) confirm iron-restricted erythropoiesis has been a consistent thread across May 2024 through April 2026. The pattern is clinically significant in a child with epileptic encephalopathy — low iron has been associated with seizure threshold lowering and neurocognitive effects. Note: UCSF's pediatric transferrin-saturation reference of 7-39% is wider than typical adult references, so the value itself is not explicitly flagged abnormal by the report.
• Plasma lactate low-normal and ammonia normal argue against classic hyperammonemic / mitochondrial etiologies, complementing the January IEM workup.
• Triglyceride discrepancy is almost certainly a fasting/non-fasting artifact, not a lipid disorder — the Stanford Apr 6 Trig 86 (likely fasting AM) to UCSF Apr 7 Trig 262 (likely post-prandial PM) gap is too large to reflect a 24-hour change in lipid biology. UCSF uses a stricter pediatric cutoff (<75 fasting) than Stanford's adult <150.
• The albumin on this draw (3.7) is intermediate between Stanford Apr 6 albumin 4.1 and UCSF Apr 6 albumin 3.3 — all within or near reference, suggesting the Apr 6 UCSF albumin 3.3 was a minor lab/specimen artifact rather than true hypoalbuminemia.

GeneDx Trio Genome Reanalysis #4

Report date: April 9, 2026. Reanalysis of the GeneDx trio genome data previously reported 2026-01-29.

Signatory

Jane S. Juusola, PhD, FACMG (MD-044), GeneDx

Primary result

NEGATIVE — No newly identified causative variant on reanalysis of the existing sequencing data.

HPO terms updated for this reanalysis

New terms added relative to the original order:

• HP:0000708 Behavioral abnormality (implied via "Agitation")
• HP:0002353 EEG abnormality
• HP:0200134 Epileptic encephalopathy
• HP:0000256 Macrocephaly

Plus the original HPO panel (absent speech, autism, ART conception, curly hair, delayed fine motor, delayed speech/language, developmental regression, maternal diabetes (surrogate), motor delay, overgrowth, pregnancy history, sleep disturbance, tip-toe gait).

Clinical significance

With an updated phenotype explicitly including epileptic encephalopathy, EEG abnormality, and macrocephaly — and still no positive variant call — the germline single-gene coding-region etiology hypothesis takes an additional evidentiary hit. This is now the third negative germline readout on file (Stanford exome, GeneDx genome, GeneDx reanalysis) with matched mtDNA negative.

Remaining untested territory (not addressed by any of the three reports): somatic mosaicism in affected tissue, methylation/imprinting defects, deep-tissue-restricted mtDNA heteroplasmy, and novel-gene discovery that would be picked up by a future reanalysis once more gene–disease associations are curated.

Levi Phenotype Profile

Generated April 9, 2026. A consolidated feature-checklist tool evaluating 130 phenotypic features against Levi's history, current exam, and documented workup. Counts:

• Present: 28
• Absent: 80
• Unknown / never evaluated: 22

Key present features (high-yield for differential reasoning)

Neurological / developmental

• Autism Spectrum Disorder (confirmed)
• ESES / CSWS (electrical status epilepticus of sleep / continuous spike-wave during sleep) — pattern on EEG
• Developmental regression
• Absent speech / severely delayed expressive language
• Motor delay
• Hypotonia
• Tip-toe gait
• Sleep disturbance
• Stereotypic hand movements

Growth

• Macrocephaly
• Overgrowth (weight, height, head circumference all at/above 99th percentile since age 1)
• Obesity
• Hyperphagia — documented here; not previously in the case record

Sensory / behavioral

• High pain threshold
• Hyperactivity
• Temperature instability
• Bruxism

GI / other

• Constipation, managed with Miralax

Key absent features

Overgrowth-syndrome stigmata that are negative

• No café-au-lait macules, no axillary freckling (NF1 stigmata absent)
• No angiofibromas, ash-leaf spots, or shagreen patch (TSC stigmata absent)
• No skin hamartomas (PTEN stigmata absent)
• No dysmorphic facies consistent with Sotos, Simpson-Golabi-Behmel, or Tatton-Brown-Rahman (specifically checked and absent)
• No macroglossia (BWS stigma absent)
• No joint hypermobility
• No hemihyperplasia or visible asymmetric overgrowth
• No cataracts

Epilepsy features

• No status epilepticus (apart from ESES/CSWS pattern, which is electrical)
• No drug-resistant generalized/focal epilepsy phenotype
• No infantile spasms

Other

• No sensorineural hearing loss confirmed (hearing test was inconclusive 1/24/2024; later workup unclear)
• No cardiomyopathy identified
• No cataracts

Key unknown / never-evaluated features

• QT interval — formal 12-lead ECG with computer-calculated QTc not on file; prior rhythm strips show prolonged QTc but are not diagnostic
• Lisch nodules (requires ophthalmology slit-lamp; not documented)
• Renal imaging (not performed)
• Advanced bone age (x-ray not performed)
• Visceromegaly (abdominal imaging not done for this indication)
• Cancer predisposition workup (not pursued; relevant for PTEN, BWS, Li-Fraumeni-adjacent differentials)
• Thyroid function on current data (last check unclear)
• Full immunology panel beyond standard workup
• Skin biopsy for mosaic genetics (not performed)
• Buccal swab for mosaic genetics (not performed)

Clinical significance

The phenotype profile crystallizes several things at once:

1. Overgrowth syndromes with distinctive stigmata are largely ruled out on physical exam (no Sotos/SGB/TBRS/BWS facies, no NF1/TSC skin findings, no PTEN hamartomas).
2. Several previously under-captured features are now explicit: hyperphagia, temperature instability, high pain threshold.
3. Untested territory is explicit: formal 12-lead ECG, renal imaging, bone age, visceromegaly screen, cancer surveillance, mosaic genetics on skin/buccal.

The absence of Sotos/TBRS/SGB facies combined with two negative germline trio workups makes classical syndromic overgrowth unlikely and pushes the differential toward mosaic somatic pathway activation, epigenetic/methylation defects, and non-genetic multifactorial DEE-SWAS etiologies.

Nocturnal arousal and hyperphagia phenotype addendum

Captured April 19, 2026 from parent-reported history (Jake). This addendum supplements the April 9, 2026 structured phenotype profile (content/vault/records/2026-04-09-note-phenotype-profile.md) by adding detail that was not present in that snapshot.

Why a dedicated addendum

The April 9, 2026 phenotype profile marks hyperphagia present but does not distinguish daytime vs. nocturnal pattern, and does not separately capture recurrent nocturnal awakenings. Jake's chat-level clarification on 2026-04-19 supplies the following durable phenotypic detail. This matters because the specific character of the awakenings bears on multiple differential theories (hypothalamic dysfunction, HPA-axis disturbance, nocturnal hypoglycemia, peri-ictal arousal) and on which diagnostic probes are highest-yield.

Observations (parent-reported)

Frequency and timing

• Several nights per week, not every night.
• Time of awakening clusters around ~3 AM, but not rigidly — can occur earlier or later in the 1-5 AM band.
• Pattern has been ongoing for approximately 1.5 years, with gradual onset over weeks rather than abrupt.
• Timeline implication: the pattern predates the April 2024 developmental regression and DEE-SWAS diagnosis. It is not a side effect of the March 2026 methylprednisolone pulse, risperidone, clobazam, or clonidine. It is a longer-standing trait-level feature.

Character of the arousal

• Levi is "stimmy" (self-stimulatory; high internal arousal) when he wakes during these episodes.
• He is not distressed, crying, sweaty, tremulous, or disoriented — i.e., the presentation is not consistent with severe nocturnal hypoglycemic counter-regulatory awakening.
• He is very hungry and goes directly to the pantry for snacks when allowed out of his room.
• Note: when Levi wakes naturally at morning-appropriate times (i.e., sleeping in and being gotten up for school), his affect is instead calm and cuddly — qualitatively different from the nocturnal pattern. This within-subject contrast argues that the 3 AM pattern is not simply Levi's default waking phenotype.

Return to sleep

• Does not reliably return to sleep on his own after awakening.
• Family typically keeps him in his room for a period after the awakening; sleep-onset latency after re-settling is not quantified.

Clinical reasoning

What this phenotype supports

• Hypothalamic signature tightened. The April 9 profile already flagged hyperphagia + temperature instability + high pain threshold as a Prader-Willi-like hypothalamic signature (content/vault/indexes/test-results.yaml:1427-1431). The nocturnal pattern adds specificity in two ways: (1) it makes hyperphagia nocturnal and circadian-patterned rather than generic; (2) it adds recurrent circadian-clustered arousal as a standalone feature consistent with hypothalamic/suprachiasmatic-nucleus dysregulation.
• HPA-axis rhythm disturbance remains plausible. 1-5 AM is the physiologic cortisol-rise window and sympathetic-arousal window. Recurrent awakenings at this time, with elevated internal arousal (stimmy), are compatible with a mistimed or exaggerated pre-waking cortisol/ACTH surge or with an autonomic surge.
• Circadian-phase disruption, potentially independent of the HPA axis, is also compatible. Phase-advanced or fragmented sleep is common in DEE and in autism spectrum disorder.
• 1.5-year duration predates DEE-SWAS regression. If DEE-SWAS were the primary driver, onset would correlate with regression, not precede it. This argues the nocturnal phenotype is either (a) a trait-level hypothalamic/HPA feature that may share a common upstream cause with DEE-SWAS or (b) an independent comorbidity.

What this phenotype argues against

• Severe primary adrenal insufficiency with nocturnal hypoglycemic awakening is less consistent with the calm/happy/stimmy (non-distressed) character. A counter-regulatory failure awakening typically presents with sweating, pallor, tremor, and distress, not a calm stimmy state. This downgrades the "adrenal insufficiency → nocturnal hypoglycemia → awakening" branch without ruling it out.

Competing interpretations that remain in play

• Peri-ictal or post-ictal arousal driven by subclinical nocturnal epileptiform activity. Levi's pre-pulse SWI was 95-100% sleep-dominant; the 1.5-year duration covers periods of presumed high SWI before the March 2026 suppression. Whether these arousals are electroencephalographically correlated has never been tested — no overnight EEG has been captured during one of the nocturnal awakenings specifically.
• Hypothalamic hyperphagia of the PWS / ROHHAD / ciliopathy / MC4R-pathway / leptin-POMC-axis family. Calm, purposeful nocturnal food-seeking with high internal arousal is a reasonable phenotypic match, though the absence of rapid-onset obesity and of hypoventilation argues against ROHHAD specifically.
• Behavioral reinforcement overlay. After 1.5 years of pairing awakening with parental response, the behavior has almost certainly acquired a behavioral-reinforcement component in addition to whatever originally drove it. Both can be true simultaneously.

Relevance to diagnostics

This phenotypic detail is the direct justification for the following diagnostic items to be added or reprioritized (see companion synthesis memo at content/research/notes/2026-04-19-hpa-axis-evidence-synthesis.md and the diagnostics workspace):

• Diurnal salivary cortisol (4-point) - higher-yield than a single AM cortisol for characterizing a potentially shifted cortisol curve.
• AM cortisol + ACTH - table-stakes baseline.
• IGF-1 + IGF-BP3 + prolactin - screen hypothalamic-pituitary output alongside GH/somatotroph axis.
• Fasting leptin - relevant to hypothalamic-hyperphagia phenotypes.
• Structured sleep diary and/or 2-week actigraphy - characterize circadian pattern without any blood draw; gives baseline to compare against any future intervention.
• Dedicated sellar/hypothalamic MRI re-read - already on the neuroradiology re-read list; confirm hypothalamus and pituitary are specifically enumerated.
• Opportunistic critical-sample capture during a nocturnal awakening (glucose + cortisol + insulin + GH) - low priority given the calm stimmy character, but worth capturing opportunistically if an awakening occurs during an admission or sleep study.
• Overnight EEG correlation - pre-specify during the next overnight EEG that any nocturnal arousal should be annotated on the trace to separate epileptiform-driven from endocrine-driven awakening.

Caveats

• This is parent-reported history, not instrumented data. Frequency ("several nights per week"), time clustering ("around 3 AM"), and duration ("about 1.5 years") are approximate.
• Not yet reviewed by Levi's treating team. Surface to Stanford epileptology, UCSF neurology, and pediatrics at the next visit.
• The addendum complements but does not replace the April 9 structured phenotype profile. A formal re-scoring using the van Santen et al. 2023 hypothalamic-syndrome criteria (content/research/papers/2023-van-santen-hypothalamic-syndrome-criteria.md) would be the natural next step.

Provenance

• Captured from Jake's chat message on 2026-04-19 with the Levi AI Research Lab orchestrator.
• This record is a durable primary capture; there is no PDF or scan to ingest.
• Downstream updates to differential, diagnostics, treatments, and case-overview flow from this record via the 2026-04-19 HPA-axis research branch.

This placeholder file exists to demonstrate the extracted-record pattern. Replace it with real ingested records once uploads begin.