Development, behaviour and autism in individuals with SMC1A variants

Autor:	Mulder, P.A., Huisman, S., Landlust, A.M., Moss, J., Bader, I., Balkom, I.D.C. van, Bisgaard, A.M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M.A., Diderich, K., Elting, M., Essen, A. van, FitzPatrick, D., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K.M., Hennekam, R.C., Hilhorst-Hofstee, Y., Hopman, S., Horn, D., Isrie, M., Jansen, S., Jespersgaard, C., Kaiser, F.J., Kaur, M., Kleefstra, T., Krantz, I.D., Lakeman, P., Lessel, D., Michot, C., Noon, S.E., Oliver, C., Parenti, I., Pie, J., Piening, S., Puisac, B., Ramos, F.J., Redeker, E., Rieubland, C., Russo, S., Selicorni, A., Tumer, Z., Vorstenbosch, R., Vries, I.M., Wenger, T.L., Wierzba, J., SMC1A Consortium
Přispěvatelé:	Clinical Genetics, Pediatric surgery, APH - Quality of Care, Human genetics, Amsterdam Reproduction & Development (AR&D), Graduate School, ANS - Cellular & Molecular Mechanisms, Paediatric Genetics
Rok vydání:	2019
Předmět:	cognition Male Autism Spectrum Disorder Chromosomal Proteins Non-Histone CHILDREN Cell Cycle Proteins COMMUNICATION Pediatrics 0302 clinical medicine De Lange Syndrome Intellectual disability Developmental and Educational Psychology Spectrum disorder Child self-injurious behaviour 05 social sciences SELF-INJURIOUS-BEHAVIOR Perinatology PREVALENCE and Child Health Psychiatry and Mental health Phenotype DE-LANGE-SYNDROME Autism spectrum disorder Child Preschool Female Psychology 050104 developmental & child psychology Clinical psychology Behavioural phenotype Adult Down syndrome cornelia de lange syndrome Cornelia de Lange Syndrome Adolescent autism Rett syndrome 03 medical and health sciences Young Adult All institutes and research themes of the Radboud University Medical Center Journal Article medicine Humans 0501 psychology and cognitive sciences Cognitive Dysfunction Pediatrics Perinatology and Child Health rett syndrome SPECTRUM DISORDER Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] MUTATIONS Infant NIPBL medicine.disease Cross-Sectional Studies Pediatrics Perinatology and Child Health Autism Down Syndrome Self-Injurious Behavior 030217 neurology & neurosurgery
Zdroj:	SMC1A Consortium 2019, ' Development, behaviour and autism in individuals with SMC1A variants ', Journal of Child Psychology and Psychiatry and Allied Disciplines, vol. 60, no. 3, pp. 305-313 . https://doi.org/10.1111/jcpp.12979 Journal of Child Psychology and Psychiatry and Allied Disciplines, 60, 3, pp. 305-313 Journal of Child Psychology and Psychiatry, 60(3), 305-313. Wiley Journal of Child Psychology and Psychiatry, 60(3), 305-313. Wiley-Blackwell Publishing Ltd Journal of Child Psychology and Psychiatry, 60(3), 305-313. WILEY Journal of Child Psychology and Psychiatry and Allied Disciplines, 60(3), 305-313. Wiley-Blackwell Journal of Child Psychology and Psychiatry and Allied Disciplines, 60, 305-313 Journal of child psychology and psychiatry, and allied disciplines, 60(3), 305-313. Wiley-Blackwell Journal of Child Psychology and Psychiatry and Allied Disciplines, 60(3), 305. Wiley-Blackwell
ISSN:	0021-9630
Popis:	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.
Databáze:	OpenAIRE
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