Inside out Behavioral phenotyping in genetic syndromes

This thesis studies development and behavior in individuals with genetic syndromes, specifically describing Cornelia de Lange syndrome, Marshall-Smith syndrome and Malan syndrome, stratified by genetic information. Manifestation of behavior is examined in the context of developmental level and environment. Specific areas of interest are cognition, autism, sensory processing, adaptive behavior and self-injurious behavior.
Used methodology can serve as a model for the general study of behavioral phenotypes in genetic syndromes. Direct in-person assessment of cognition and autism characteristics revealed clinical important information. Assessment of behavior in the context of developmental level and environment offers a more nuanced perspective on the prevalence of developmental problems (such as autism). Sensory processing difficulties are frequently prevalent in individuals with an intellectual disability. Understanding sensory processing is key to address support needs and enhance social participation and learning opportunities. Data show clear differences in development and behavior between and within syndrome-groups, when stratifying results to genetic information.
This study emphasizes the significance of direct in-person assessments and the need to consider behavior within one's own developmental and environmental context. The use of a dedicated (cross-syndromal) standard of instruments improves the comparability of results, also over longer time. This study demonstrates the importance of an interdisciplinary method in behavioral phenotyping of genetic syndromes. It entails clinical relevant differentiation of behavioral phenotypes in genetic syndromes. This way tailored care and support can be provided to ultimately improve the quality of life of individuals with genetic syndromes and their families.