Development, behaviour and autism in individuals with SMC1A variants

SMC1A Consortium

Research output: Contribution to journalArticle

1 Citation (Scopus)

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.

Original languageEnglish
Pages (from-to)305-313
Number of pages9
JournalJournal of Child Psychology and Psychiatry and Allied Disciplines
Volume60
Issue number3
DOIs
Publication statusPublished - 01-03-2019

Fingerprint

De Lange Syndrome
Autistic Disorder
Self-Injurious Behavior
Phenotype
Cognition
Interdisciplinary Studies
Psychological Adaptation
Down Syndrome
Intellectual Disability
Quality of Life
Interviews

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Developmental and Educational Psychology
  • Psychiatry and Mental health

Cite this

@article{f8f8386f5bca454a839f0c8bec5733c0,
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.",
author = "{SMC1A Consortium} and Mulder, {Paul A.} and Sylvia Huisman and Landlust, {Annemiek M.} and Jo Moss and Sigrid Piening and Hennekam, {Raoul C.} and {van Balkom}, {Ingrid D.C.} and Ingrid Bader and Bisgaard, {Anne Marie} and Alice Brooks and Anna Cereda and Constanza Cinca and Dinah Clark and Valerie Cormier-Daire and Deardorff, {Matthew A.} and Karin Diderich and Mariet Elting and {van Essen}, Anthonie and David Fitzpatrick and Cristina Gervasini and Gabriele Gillessen-Kaesbach and Girisha, {Katta M.} and Yvonne Hilhorst-Hofstee and Saskia Hopman and Denise Horn and Mala Isrie and Sandra Jansen and Cathrine Jespersgaard and Kaiser, {Frank J.} and Maninder Kaur and Tjitske Kleefstra and Krantz, {Ian D.} and Phillis Lakeman and Davor Lessel and Caroline Michot and Noon, {Sarah E.} and Chris Oliver and Ilaria Parenti and Juan Pie-Juste and Beatriz Puisac and Ramos, {Feliciano J.} and Egbert Redeker and Claudine Rieubland and Silvia Russo and Angelo Selicorni and Zeynep T{\"u}mer and Rieneke Vorstenbosch and {de Vries}, {Irene M.} and Wenger, {Tara L.} and Jolanta Wierzba",
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language = "English",
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Development, behaviour and autism in individuals with SMC1A variants. / SMC1A Consortium.

In: Journal of Child Psychology and Psychiatry and Allied Disciplines, Vol. 60, No. 3, 01.03.2019, p. 305-313.

Research output: Contribution to journalArticle

TY - JOUR

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

AU - SMC1A Consortium

AU - Mulder, Paul A.

AU - Huisman, Sylvia

AU - Landlust, Annemiek M.

AU - Moss, Jo

AU - Piening, Sigrid

AU - Hennekam, Raoul C.

AU - van Balkom, Ingrid D.C.

AU - Bader, Ingrid

AU - Bisgaard, Anne Marie

AU - Brooks, Alice

AU - Cereda, Anna

AU - Cinca, Constanza

AU - Clark, Dinah

AU - Cormier-Daire, Valerie

AU - Deardorff, Matthew A.

AU - Diderich, Karin

AU - Elting, Mariet

AU - van Essen, Anthonie

AU - Fitzpatrick, David

AU - Gervasini, Cristina

AU - Gillessen-Kaesbach, Gabriele

AU - Girisha, Katta M.

AU - Hilhorst-Hofstee, Yvonne

AU - Hopman, Saskia

AU - Horn, Denise

AU - Isrie, Mala

AU - Jansen, Sandra

AU - Jespersgaard, Cathrine

AU - Kaiser, Frank J.

AU - Kaur, Maninder

AU - Kleefstra, Tjitske

AU - Krantz, Ian D.

AU - Lakeman, Phillis

AU - Lessel, Davor

AU - Michot, Caroline

AU - Noon, Sarah E.

AU - Oliver, Chris

AU - Parenti, Ilaria

AU - Pie-Juste, Juan

AU - Puisac, Beatriz

AU - Ramos, Feliciano J.

AU - Redeker, Egbert

AU - Rieubland, Claudine

AU - Russo, Silvia

AU - Selicorni, Angelo

AU - Tümer, Zeynep

AU - Vorstenbosch, Rieneke

AU - de Vries, Irene M.

AU - Wenger, Tara L.

AU - Wierzba, Jolanta

PY - 2019/3/1

Y1 - 2019/3/1

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.

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DO - 10.1111/jcpp.12979

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JO - Journal of Child Psychology and Psychiatry and Allied Disciplines

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