Development, cognition, and behaviour in Pitt–Hopkins syndrome
Article first published online: 19 JUN 2012
© The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press
Developmental Medicine & Child Neurology
Volume 54, Issue 10, pages 925–931, October 2012
How to Cite
VAN BALKOM, I. D. C., VUIJK, P. J., FRANSSENS, M., HOEK, H. W. and HENNEKAM, R. C. M. (2012), Development, cognition, and behaviour in Pitt–Hopkins syndrome. Developmental Medicine & Child Neurology, 54: 925–931. doi: 10.1111/j.1469-8749.2012.04339.x
- Issue published online: 11 SEP 2012
- Article first published online: 19 JUN 2012
- PUBLICATION DATA Accepted for publication 26th March 2012.Published online 19th June 2012.
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.