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... Show moreIntroduction 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. Show less
Aim of the dissertation: To expand the knowledge on the behavioural phenotypes, level of parenting stress and the relationship between child characteristics and parenting stress in five genetic... Show moreAim of the dissertation: To expand the knowledge on the behavioural phenotypes, level of parenting stress and the relationship between child characteristics and parenting stress in five genetic syndromes. The included syndromes are Angelman, CHARGE, Cornelia de Lange, Prader-Willi, and Rett syndrome. All syndromes are associated with intellectual disabilities. Method: Participants were children and adults with one of the syndromes and their parents, recruited through the Dutch Parent Support Groups. Parents filled out questionnaires concerning parenting stress and behavioural characteristics of their child. Additionally an interview regarding autistic traits of the child was administrated with parents. Main results: The behavioural phenotypes of the syndromes are described in detail. In all syndromes there is a high risk to display autistic traits. The syndromes can been seen as a risk factor for high levels of parenting stress. Specialized psycho-education on the behavioural strengths and weaknesses of a specific syndrome should be given to parents. Awareness on the high prevalence of autistic traits is important to be able to shape an optimum adaptive environment. Professionals should not only focus on the child with the syndrome, but also on the family system given the high stress levels for parents. Show less
