Development, cognition, and behaviour in Pitt-Hopkins syndrome.

Abstract

AIM:

The aim of the study was to collect detailed data on behavioural, adaptive, and psychological functioning in 10 individuals with Pitt-Hopkins syndrome (PTHS), with specific attention to manifestations of autism spectrum disorder (ASD).

METHOD:

The participants (four females, six males), residing in the Netherlands and Belgium, were ascertained through the Dutch national PTHS support group. Median age of participants was 10 years, the age range was between 32 and 289 months. They underwent psychiatric examinations and neuropsychological measurements using a comprehensive assessment battery. Additionally, parental information was gathered through standardized interviews and questionnaires. Findings were compared with those from the literature.

RESULTS:

All participants showed profound intellectual disability, amiable demeanour with minimal maladaptive behaviours, severe impairments of communication and language, and intense, frequent motor stereotypies. Impairments in all participants were beyond what would be expected for cognitive abilities, fitting a classification of ASD.

INTERPRETATION:

Patients with PTHS are characterized not only by specific physical and genetic manifestations but also by specific behavioural and cognitive characteristics. Studying behaviour and cognition may improve diagnosis and prognosis, allows recognition of comorbidities, and contributes to adequate counselling of families.

• Authors: Ingrid D C Van Balkom, Pieter Jelle Vuijk, Marijke Franssens, Hans W Hoek, Raoul C M Hennekam
• Journal: Developmental medicine and child neurology (Dev Med Child Neurol) Vol. 54 Issue 10 Pg. 925-31 (Oct 2012) ISSN: 1469-8749 [Electronic] England
• PMID: 22712893 (Publication Type: Journal Article, Review)
• Copyright: © The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.

Chemical References

• Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
• TCF4 protein, human
• Transcription Factor 4
• Transcription Factors

Topics

• Adolescent
• Basic Helix-Loop-Helix Leucine Zipper Transcription Factors (genetics)
• Belgium
• Child
• Child Behavior Disorders (diagnosis, genetics, psychology)
• Child Development Disorders, Pervasive (diagnosis, genetics, psychology)
• Child, Preschool
• Cognition Disorders (diagnosis, genetics, psychology)
• DNA Mutational Analysis
• Developmental Disabilities (diagnosis, genetics, psychology)
• Diagnosis, Differential
• Facies
• Female
• Humans
• Hyperventilation (diagnosis, genetics, psychology)
• Intellectual Disability (diagnosis, genetics, psychology)
• Language Development Disorders (diagnosis, genetics, psychology)
• Male
• Netherlands
• Neuropsychological Tests
• Stereotypic Movement Disorder (diagnosis, genetics, psychology)
• Transcription Factor 4
• Transcription Factors (genetics)
• Young Adult