The adaptive functioning profile of Pitt-Hopkins syndrome

Abstract

Background: There are few cohort studies describing the adaptive functioning profile for Pitt-Hopkins syndrome (PTHS). In this study we examine the adaptive functioning profile for PTHS and compare it to Angelman syndrome (AS). Method: Caregivers of 14 individuals with PTHS, 33 with deletion AS and 23 with non-deletion AS, completed the Vineland Adaptive Behavior Scales-II. Results: The profile of adaptive functioning in PTHS was characterised by strengths in socialisation, followed by motor skills, communication then daily living skills. The PTHS group scored significantly lower than the non-deletion AS group on all domains except socialisation and significantly lower than the deletion AS group, for motor skills only. Conclusions: An uneven adaptive behavior profile for individuals with PTHS mirrors that of AS, with implications for assessment and intervention.

Publication DOI: https://doi.org/10.1016/j.ejmg.2021.104279
Divisions: College of Health & Life Sciences > School of Psychology
College of Health & Life Sciences
Additional Information: © 2021, Elsevier. Licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/. Funding: This research was funded by Cerebra.
Uncontrolled Keywords: Adaptive functioning,Angelman syndrome,Behavioral phenotype,Intellectual disability,Pitt-Hopkins syndrome,Vineland adaptive behavior scales,Genetics,Genetics(clinical)
Full Text Link:
Related URLs: https://linking ... 769721221001452 (Publisher URL)
http://www.scop ... tnerID=8YFLogxK (Scopus URL)
PURE Output Type: Article
Published Date: 2021-09
Published Online Date: 2021-06-24
Accepted Date: 2021-06-22
Authors: Pearson, Effie (ORCID Profile 0000-0002-4328-1653)
Watkins, Alice
Oliver, Chris
Karim, Amna
Clayton-smith, Jill
Welham, Alice

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Version: Accepted Version

Access Restriction: Restricted to Repository staff only until 24 June 2022.

License: Creative Commons Attribution Non-commercial No Derivatives


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