Development, cognition, and behaviour in Pitt-Hopkins syndrome

Ingrid D. C. Van Balkom*, Pieter Jelle Vuijk, Marijke Franssens, Hans W. Hoek, Raoul C. M. Hennekam

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

30 Citations (Scopus)

Abstract

Aim The aim of the study was to collect detailed data on behavioural, adaptive, and psychological functioning in 10 individuals with PittHopkins 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.

Original languageEnglish
Pages (from-to)925-931
Number of pages7
JournalDevelopmental Medicine and Child Neurology
Volume54
Issue number10
DOIs
Publication statusPublished - Oct-2012

Keywords

  • MENTAL-RETARDATION
  • INTELLECTUAL DISABILITY
  • INTERSTITIAL DELETION
  • TRANSCRIPTION FACTOR
  • TCF4 MUTATIONS
  • AUTISM
  • DISORDERS
  • HAPLOINSUFFICIENCY
  • PHENOTYPE
  • INTERVIEW

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