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Rigshospitalet - en del af Københavns Universitetshospital
Udgivet

Development, behaviour and autism in individuals with SMC1A variants

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  • SMC1A Consortium
  • Zeynep Tümer (Medlem af forfattergruppering)
  • Paul A Mulder
  • Sylvia Huisman
  • Annemiek M Landlust
  • Jo Moss
  • Sigrid Piening
  • Raoul C Hennekam
  • Ingrid D C van Balkom
Vis graf over relationer

INTRODUCTION: Development and behaviour in Cornelia de Lange Syndrome (CdLS), including autism characteristics, have been described infrequently stratified to genetic cause and only a few studies have considered behavioural characteristics in relation to developmental level. Here, we describe the behavioural phenotype in individuals with CdLS with SMC1A variants.

METHODS: We performed an international, interdisciplinary study on 51 individuals with SMC1A variants. Results of questionnaire studies are compared to those in individuals with Down Syndrome and with Autism Spectrum Disorder. Results on cognition and self-injurious behaviour (SIB) are compared to those in individuals with CdLS caused by NIPBL variants. For Dutch participants with SMC1A variants we performed direct in-person assessments of cognition, autism, and added an interview and questionnaire on adaptive behaviour and sensory processing.

RESULTS: Individuals with SMC1A variants show a higher cognitive level and less SIB than individuals with NIPBL variants. Individuals with SMC1A variants without classic CdLS phenotype but with a Rett-like phenotype show more severe intellectual disability and more SIB compared to those with a CdLS phenotype. Autism is less present if outcomes in direct in-person assessments are evaluated taking developmental level into account compared to results based on a questionnaire.

CONCLUSIONS: Behaviour in individuals with CdLS should be evaluated taking genetic cause into account. Detailed interdisciplinary approaches are of clinical importance to inform tailored care and may eventually improve quality of life of patients and families.

OriginalsprogEngelsk
TidsskriftJournal of Child Psychology and Psychiatry and Allied Disciplines
Vol/bind60
Udgave nummer3
Sider (fra-til)305-313
ISSN0021-9630
DOI
StatusUdgivet - 2019

ID: 56320943