The adaptive functioning profile of Pitt-Hopkins syndrome

Eur J Med Genet. 2021 Sep;64(9):104279. doi: 10.1016/j.ejmg.2021.104279. Epub 2021 Jun 24.


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.

Keywords: Adaptive functioning; Angelman syndrome; Behavioral phenotype; Intellectual disability; Pitt-Hopkins syndrome; Vineland adaptive behavior scales.

MeSH terms

  • Activities of Daily Living
  • Adaptation, Physiological*
  • Adolescent
  • Adult
  • Angelman Syndrome / pathology
  • Child
  • Facies
  • Humans
  • Hyperventilation / pathology*
  • Intellectual Disability / pathology*
  • Motor Skills
  • Phenotype*
  • Social Behavior

Supplementary concepts

  • Pitt-Hopkins syndrome