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


METHODS
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.


CONCLUSIONS
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.
Jonx Department of Youth Mental Health, Lentis Psychiatric Institute, Zuidlaren, the Netherlands. idc.vanbalkom@lentis.nl
Ingrid D C
ID
Van Balkom
Pieter Jelle
PJ
Vuijk
Marijke
M
Franssens
Hans W
HW
Hoek
Raoul C M
RC
Hennekam
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