Development, behaviour and autism in individuals with SMC1A variants

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Development, behaviour and autism in individuals with SMC1A variants. / Mulder, Paul A.; Huisman, Sylvia; Landlust, Annemiek M.; Moss, Jo; SMC1A Consortium; Piening, Sigrid; Hennekam, Raoul C.; van Balkom, Ingrid D. C.; Oliver, Christopher (Contributor).

In: Journal of Child Psychology and Psychiatry and Allied Disciplines, 08.10.2018.

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Mulder, Paul A. ; Huisman, Sylvia ; Landlust, Annemiek M. ; Moss, Jo ; SMC1A Consortium ; Piening, Sigrid ; Hennekam, Raoul C. ; van Balkom, Ingrid D. C. ; Oliver, Christopher. / Development, behaviour and autism in individuals with SMC1A variants. In: Journal of Child Psychology and Psychiatry and Allied Disciplines. 2018.

Bibtex

@article{5cdacdee5b3c4776a7fae2a33c382c1b,
title = "Development, behaviour and autism in individuals with SMC1A variants",
abstract = "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.",
keywords = "autism, Behavioural phenotype, cognition, cornelia de lange syndrome, rett syndrome, self-injurious behaviour, phenotype, Autism spectrum disorders, intellectual disability, self-injury, genetics, behavioural",
author = "Mulder, {Paul A.} and Sylvia Huisman and Landlust, {Annemiek M.} and Jo Moss and {SMC1A Consortium} and Sigrid Piening and Hennekam, {Raoul C.} and {van Balkom}, {Ingrid D. C.} and Christopher Oliver",
year = "2018",
month = "10",
day = "8",
doi = "10.1111/jcpp.12979",
language = "English",
journal = "Journal of Child Psychology and Psychiatry",
issn = "0021-9630",
publisher = "Wiley",

}

RIS

TY - JOUR

T1 - Development, behaviour and autism in individuals with SMC1A variants

AU - Mulder, Paul A.

AU - Huisman, Sylvia

AU - Landlust, Annemiek M.

AU - Moss, Jo

AU - SMC1A Consortium

AU - Piening, Sigrid

AU - Hennekam, Raoul C.

AU - van Balkom, Ingrid D. C.

A2 - Oliver, Christopher

PY - 2018/10/8

Y1 - 2018/10/8

N2 - 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.

AB - 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.

KW - autism

KW - Behavioural phenotype

KW - cognition

KW - cornelia de lange syndrome

KW - rett syndrome

KW - self-injurious behaviour

KW - phenotype

KW - Autism spectrum disorders

KW - intellectual disability

KW - self-injury

KW - genetics

KW - behavioural

UR - http://www.scopus.com/inward/record.url?scp=85054556117&partnerID=8YFLogxK

U2 - 10.1111/jcpp.12979

DO - 10.1111/jcpp.12979

M3 - Article

JO - Journal of Child Psychology and Psychiatry

JF - Journal of Child Psychology and Psychiatry

SN - 0021-9630

ER -