NM_018489.2:c.5138_5139del

Report protein consequencep.Ser1713Cysfs*3

Normalized MANE/map notationNM_018489.3:c.5138_5139del · NP_060959.2:p.Ser1713Cysfs*3 — The reviewed report uses NM_018489.2. NM_018489.2 and MANE Select NM_018489.3 use the same coding coordinate here, so c.5138_5139del and p.Ser1713Cysfs*3 map 1:1.

A girl in the 6–10 age group with strong social connection and a fluctuating history involving language access, motor planning, vision, movement, sensory regulation, illness-linked changes, ENT findings, and reported treatment-associated changes

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Chapter 05Treatments, supports, and the whole-person view

Medication, supplement, antibiotic, and anesthesia observations

The most striking medication-associated observations were reported during several antimicrobial courses. They should remain separate because the drugs, indications, timing, and observed directions of change were not the same. The first cephalexin observation is supported by a direct caregiver update. The later prolonged-cephalexin, fluconazole, and cefdinir descriptions came from the child-specific section of a July 2026 parent-authored update, but the prescribing records and standardized outcome measures were not available.

Medication, supplement, antibiotic, and anesthesia observations
Exposure	Family-observed course
Cephalexin for a reported 2025 UTI	By approximately day five, her caregiver and another observer noticed better organization, social engagement, attention, language, executive function, and regulation. Fewer stereotyped movements were noticed during that observation window. The immunologist reportedly extended the course.

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Oral fluconazole	Her family described a similarly broad improvement in attention, executive function, conversational language, social initiation, emotional regulation, flexibility, participation, and daily independence. Examples included getting dressed before camp and brushing her own teeth with fewer prompts.

NM_018489.2:c.5138_5139del

NM_018489.2:c.5138_5139del

Medication, supplement, antibiotic, and anesthesia observations

Growth and general health

Current supports and practical needs

The whole person