For parents, caregivers, health care providers, and teachers, concerns and questions often arise regarding the care and well-being of individuals with Cornelia de Lange syndrome.
Approximately just under half of all individuals with CdLS display symptoms of ASD. The three core characteristics of ASD include: Poor or unusual social interaction skills, Delayed development or difficulties in verbal and non-verbal communication (e.g. gestures, pointing, showing, etc) and the presence of repetitive behavior.
Recommendation(s)
Social functioning including ASDs
R56
A clinical diagnosis of autism spectrum disorder (ASD) should be considered in all individuals with CdLS throughout life, taking into account atypical presentations.
R57
R57: In addition to standardised ASD diagnostic tools, fine-grained observations should be carried out to accurately define the profile of social functioning in an individual with CdLS.
R58
ASD-specific interventions should be considered in all individuals with CdLS in combination with approaches that consider the broader social functioning profile of the syndrome.
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