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Development, cognition, and behaviour in Pitt–Hopkins syndrome
Author(s) -
VAN BALKOM INGRID D C,
VUIJK PIETER JELLE,
FRANSSENS MARIJKE,
HOEK HANS W,
HENNEKAM RAOUL C M
Publication year - 2012
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.2012.04339.x
Subject(s) - cognition , neuropsychology , autism spectrum disorder , psychology , clinical psychology , intellectual disability , autism , psychiatry , developmental psychology
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.