Development, cognition, and behaviour in Pitt-Hopkins syndrome

Dev Med Child Neurol. 2012 Oct;54(10):925-31. doi: 10.1111/j.1469-8749.2012.04339.x. Epub 2012 Jun 19.


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.

Publication types

  • Review

MeSH terms

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


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

Supplementary concepts

  • Pitt-Hopkins syndrome