BackgroundCornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X.AimsTo delineate the behavioural phenotype of Cornelia de Lange syndrome with specific reference to autistic-spectrum disorder.MethodA total of 54 individuals with Cornelia de Lange syndrome (mean age 13.88 years; s.d.=8.58) and 46 comparable individuals with intellectual disability (mean age 13.74 years; s.d.=7.99) were assessed on measures of autistic-spectrum disorder, and adaptive, compulsive and disordered behaviour.ResultsThere was no difference between the groups in global behaviour disorder. Severe autism was significantly more prevalent in the syndrome group (32.1%) than the comparison group (7.1%). In addition, the syndrome group also evidenced significantly higher levels of compulsive behaviour.ConclusionsThese data suggest that autistic-spectrum disorder is part of the behavioural phenotype of Cornelia de Lange syndrome and that compulsive behaviours are evident. Future research should investigate this behavioural phenotype using contemporary diagnostic algorithms for autism with detailed examination of the phenomenology of compulsive behaviours.

Background. Self-injury, sleep problems and health problems are commonly reported

Self-injurious behaviour in some individuals with Cornelia de Lange syndrome is associated with environmental events although the precise nature of the association warrants clarification. Using broad setting events as a methodological tool in isolation provides some insight into the role of specific environmental factors in maintaining self-injurious behaviour but the integrity of setting events must be established.

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Cornelia de Lange syndrome is reported to be associated with self-injurious behavior (SIB) and social avoidance. We used analog methodology to examine the effect of manipulating adult social contact on social communicative behaviors and SIB in 16 children with this syndrome. For 9 participants engagement behavior was related to levels of adult attention, and SIB showed significant variability across conditions for 3 participants. These findings indicate that SIB can be affected by environmental factors, even though it is thought to be part of the behavioral phenotype of Cornelia de Lange syndrome and suggest that individuals with this syndrome show socially motivated attention-soliciting behaviors. The implications for gene-environment interactions are discussed.