Pitt-Hopkins syndrome: A case report of mild impairments and musical talents.

Abstract

Background: Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder caused by mutations in the TCF4 gene. The majority of individuals with PTHS have severe intellectual disability, language impairments, and gross motor impairments (e.g., ambulation and limb coordination difficulties).

Objective: To demonstrate that PTHS may have a wider functional spectrum than previously understood.

Methods: A child that previously participated in a PTHS research study was identified as having a milder clinical presentation than other children in the study. A follow-up interview was conducted with the child's mother to follow the child's developmental course since the initial study.

Results: The child's clinical presentation consisted of mild academic delays, speech consisting of full sentences, and full ambulatory function. Additionally, the child's musical abilities (e.g., perfect pitch, the ability to transpose music, plays several instruments) has allowed him to enroll in a performing arts charter school.

Conclusions: Such PTHS case presentations further emphasize that individuals with mild medical and neurocognitive impairments could benefit from comprehensive genetics-informed care.