Behavioural phenotype of Cornelia de Lange syndrome: case–control study

Abstract

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.

Social Anxiety in Cornelia de Lange Syndrome

“…Recent research indicates a heightened prevalence of autism spectrum disorder (ASD), in CdLS with estimates ranging from 55 to 66% (Basile, Villa, Selicorni & Molteni, 2007;Bhyuian et al, 2006;Moss et al, 2008;Oliver, et al, 2008;Moss et al, In press). Fine-grained investigation has indicated that the presentation of the triad of impairments in CdLS may not be typical of that observed in idiopathic ASD.…”

Cornelia De Lange, Cri Du Chat, and Rubinstein-Taybi Syndromes

“…These figures are supported by a postal survey of 49 children and adults with CdLS with 43% of participants showing profound intellectual disabilities, 20% severe, 18% moderate, 8% mild and 10% borderline disabilities (Berney, Ireland, & Burn, 1999). Oliver et al (2008) using the Vineland Adaptive Behavior Scales report 50% of individuals with CdLS to have a profound intellectual disability this figure was 24, 15 and 11 for severe, moderate and mild respectively. An extensive study of development in CdLS using formal IQ testing has shown that the mean intelligence test score in people with CdLS falls within the moderate intellectual disability range .…”

Assessment and treatment of stereotypy in an individual with Cornelia de Lange syndrome and deafblindness

“…Cornelia de Lange syndrome is a congenital disorder characterized by physical abnormalities and dysmorphology, which has been associated with varying levels of intellectual disability (Barisic et al, 2008;Oliver, Arron, Sloneem, & Hall, 2008). Individuals with Cornelia de Lange syndrome often engage in repetitive and invariant behaviours that serve no apparent social function, which are generally referred to as stereotypy in the research literature (e.g., body rocking, hand flapping, mouthing, tapping; Oliver, Sloneem, Hall, & Arron, 2009;Moss, Oliver, Arron, Burbidge, & Berg, 2009).…”