Format

Send to:

Choose Destination
See comment in PubMed Commons below
Dev Med Child Neurol. 2012 Oct;54(10):925-31. doi: 10.1111/j.1469-8749.2012.04339.x. Epub 2012 Jun 19.

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

Author information

  • 1Jonx Department of Youth Mental Health, Lentis Psychiatric Institute, Zuidlaren, the Netherlands. idc.vanbalkom@lentis.nl

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.

© The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.

PMID:
22712893
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Blackwell Publishing
    Loading ...
    Write to the Help Desk