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The adaptive functioning profile of Pitt-Hopkins syndrome.
Pearson, Effie; Watkins, Alice; Oliver, Chris; Karim, Amna; Clayton-Smith, Jill; Welham, Alice.
Afiliação
  • Pearson E; School of Psychology, University of Birmingham, Birmingham, UK; School of Psychology, College of Health & Life Sciences, Aston University, Birmingham, UK. Electronic address: e.pearson1@aston.ac.uk.
  • Watkins A; School of Psychology, University of Birmingham, Birmingham, UK; UCL Great Ormond Street Institute of Child Health, London, UK.
  • Oliver C; School of Psychology, University of Birmingham, Birmingham, UK.
  • Karim A; School of Psychology, University of Birmingham, Birmingham, UK.
  • Clayton-Smith J; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK.
  • Welham A; School of Psychology, University of Birmingham, Birmingham, UK; Department of Neuroscience, Psychology and Behaviour, University of Leicester, UK.
Eur J Med Genet ; 64(9): 104279, 2021 Sep.
Article em En | MEDLINE | ID: mdl-34174467
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Adaptação Fisiológica / Hiperventilação / Deficiência Intelectual Tipo de estudo: Observational_studies Limite: Adolescent / Adult / Child / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Adaptação Fisiológica / Hiperventilação / Deficiência Intelectual Tipo de estudo: Observational_studies Limite: Adolescent / Adult / Child / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article