The adaptive functioning profile of Pitt-Hopkins syndrome

Effie Pearson*, Alice Watkins, Chris Oliver, Amna Karim, Jill Clayton-smith, Alice Welham

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


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).

Caregivers of 14 individuals with PTHS, 33 with deletion AS and 23 with non-deletion AS, completed the Vineland Adaptive Behavior Scales-II.

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.

An uneven adaptive behavior profile for individuals with PTHS mirrors that of AS, with implications for assessment and intervention.
Original languageEnglish
Article number104279
JournalEuropean Journal of Medical Genetics
Issue number9
Early online date24 Jun 2021
Publication statusPublished - Sept 2021

Bibliographical note

© 2021, Elsevier. Licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International

Funding: This research was funded by Cerebra.


  • Adaptive functioning
  • Angelman syndrome
  • Behavioral phenotype
  • Intellectual disability
  • Pitt-Hopkins syndrome
  • Vineland adaptive behavior scales


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