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Development, behaviour and autism in individuals with SMC1A variants
Paul A Mulder1, Sylvia Huisman2,3, Annemiek M Landlust1
1Autism Team Northern-Netherlands, Jonx Department of Youth Mental Health and Autism, Lentis Psychiatric Institute, Groningen, the Netherlands.
Summary
Cornelia de Lange Syndrome (CdLS) behavioral phenotypes differ based on genetic cause. SMC1A variants are linked to higher cognition and less self-injurious behavior (SIB) compared to NIPBL variants.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Behavioral Science
Background:
- Cornelia de Lange Syndrome (CdLS) behavioral phenotypes are infrequently stratified by genetic cause.
- Few studies link behavioral characteristics to developmental levels in CdLS.
Purpose of the Study:
- Describe the behavioral phenotype in individuals with CdLS and SMC1A variants.
- Compare behavioral outcomes based on genetic etiology and developmental level.
Main Methods:
- International, interdisciplinary study of 51 individuals with SMC1A variants.
- Comparative analysis with Down Syndrome, Autism Spectrum Disorder, and CdLS (NIPBL variants).
- Direct in-person assessments for cognition, autism, adaptive behavior, and sensory processing in Dutch participants.
Main Results:
- Individuals with SMC1A variants exhibit higher cognition and less self-injurious behavior (SIB) than those with NIPBL variants.
- SMC1A variants with a Rett-like phenotype show more severe intellectual disability and SIB than those with a classic CdLS phenotype.
- Autism prevalence is lower when assessed directly and considering developmental level compared to questionnaire-based results.
Conclusions:
- Behavioral evaluation in CdLS must consider the specific genetic cause.
- Interdisciplinary approaches are crucial for tailored care and improved quality of life for patients and families.
Keywords:
Behavioural phenotypeautismcognitioncornelia de lange syndromerett syndromeself-injurious behaviourMore Related Videos
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