Publication

Development, behaviour and autism in individuals with SMC1A variants

SMC1A Consortium, Mulder, P. A., Huisman, S., Landlust, A. M., Moss, J., Hennekam, R. C., Piening, S. & van Balkom, I. D. C., Mar-2019, In : Journal of Child Psychology and Psychiatry. 60, 3, p. 305-313 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Copy link to clipboard

Documents

  • Development, behaviour and autism in individuals with SMC1A variants

    Final publisher's version, 114 KB, PDF document

    Request copy

DOI

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.

Original languageEnglish
Pages (from-to)305-313
Number of pages9
JournalJournal of Child Psychology and Psychiatry
Volume60
Issue number3
Publication statusPublished - Mar-2019

    Keywords

  • Behavioural phenotype, cornelia de lange syndrome, rett syndrome, autism, cognition, self-injurious behaviour, DE-LANGE-SYNDROME, SELF-INJURIOUS-BEHAVIOR, SPECTRUM DISORDER, PHENOTYPE, CHILDREN, COMMUNICATION, PREVALENCE, MUTATIONS

View graph of relations

ID: 77301321