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Behavioural and psychological characteristics in Pitt-Hopkins syndrome: A comparison with Angelman and Cornelia de Lange syndromes

Watkins, A., Bissell, S., Moss, Joanna, Oliver, C., Clayton-Smith, J., Haye, L., Heald, M. and Welham, A. (2019) Behavioural and psychological characteristics in Pitt-Hopkins syndrome: A comparison with Angelman and Cornelia de Lange syndromes Journal of Neurodevelopmental Disorders, 11 (1).

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Abstract


Background:
Pitt-Hopkins syndrome (PTHS) is a genetic neurodevelopmental disorder associated with intellectual disability. Although the genetic mechanisms underlying the disorder have been identified, description of its behavioural phenotype is in its infancy. In this study, reported behavioural and psychological characteristics of individuals with PTHS were investigated in comparison with the reported behaviour of age-matched individuals with Angelman syndrome (AS) and Cornelia de Lange syndrome (CdLS).
Methods:
Questionnaire data were collected from parents/caregivers of individuals with PTHS (n = 24), assessing behaviours associated with autism spectrum disorder (ASD), sociability, mood, repetitive behaviour, sensory processing, challenging behaviours and overactivity and impulsivity. For most measures, data were compared to data for people with AS (n = 24) and CdLS (n = 24) individually matched by adaptive ability, age and sex. Results: Individuals with PTHS evidenced significantly higher levels of difficulties with social communication and reciprocal social interaction than individuals with AS, with 21 of 22 participants with PTHS meeting criteria indicative of ASD on a screening instrument. Individuals with PTHS were reported to be less sociable with familiar and unfamiliar people than individuals with AS, but more sociable with unfamiliar people than individuals with CdLS. Data also suggested areas of atypicality in sensory experiences. Challenging behaviours were reported frequently in PTHS, with self-injury (70.8%) occurring at significantly higher rates than in AS (41.7%) and aggression (54.2%) occurring at significantly higher rates than in CdLS (25%). Individuals with PTHS also evidenced lower reported mood than individuals with AS.
Conclusions:
Behaviours which may be characteristic of PTHS include those associated with ASD, including deficits in social communication and reciprocal social interaction. High rates of aggression and self-injurious behaviour compared to other genetic syndrome groups are of potential clinical significance and warrant further investigation. An atypical sensory profile may also be evident in PTHS. The specific aetiology of and relationships between different behavioural and psychological atypicalities in PTHS, and effective clinical management of these, present potential topics for future research.

Item Type: Article
Divisions : Faculty of Health and Medical Sciences > School of Psychology
Authors :
NameEmailORCID
Watkins, A.
Bissell, S.
Moss, Joannaj.moss@surrey.ac.uk
Oliver, C.
Clayton-Smith, J.
Haye, L.
Heald, M.
Welham, A.
Date : 5 October 2019
Funders : Cerebra Centre for Neurodevelopmental Disorders
DOI : 10.1186/s11689-019-9282-0
Copyright Disclaimer : © The Author(s). 2019 Open Access TThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
Depositing User : Diane Maxfield
Date Deposited : 03 Mar 2020 14:42
Last Modified : 03 Mar 2020 14:42
URI: http://epubs.surrey.ac.uk/id/eprint/853562

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