Abstract
Age-related behavioural change in Cornelia de Lange syndrome is poorly understood. We report a 7 year follow-up study of adaptive behaviour, autism spectrum disorder symptomatology, language skills and behavioural characteristics in 30 individuals with Cornelia de Lange syndrome, compared with 18 individuals with Cri du Chat syndrome. The proportion of individuals with Cornelia de Lange syndrome meeting criteria for autism spectrum disorder on the Autism Diagnostic Observation Schedule increased, although patterns of change were complex. For both syndrome groups, absolute levels of adaptive ability were stable and receptive language improved, suggesting that changes over time do not result from an overall decline in ability. Reliable change index scores indicate heterogeneity within both groups in the occurrence of improvement or decline.
Highlights
Cornelia de Lange syndrome (CdLS) is a rare multisystem genetic disorder that affects approximately one child in every 40,000–100,000 (O’Brien and Yule 1995)
We evaluate adaptive behaviour, language skills and behavioural characteristics (ASD symptomatology, mood and repetitive behaviour) over a 7 year follow-up period in 30 individuals with CdLS and a contrast group of individuals with Cri du Chat syndrome (CdCS)
We report on progress and changes made in both groups over this period in adaptive behaviour and language skills and in behavioural characteristics including ASD symptomatology, mood and repetitive behaviour
Summary
Cornelia de Lange syndrome (CdLS) is a rare multisystem genetic disorder that affects approximately one child in every 40,000–100,000 (O’Brien and Yule 1995). Mutations in SMC1a and SMC3 have been found to account for CdLS in a further 5% of affected individuals (Deardorff et al 2007; Musio et al 2006), and more recently, mutations in the HDAC8 and RAD21 genes have been identified in a small number of cases (Deardorff et al 2012). All of these genes encode proteins related to the cohesin complex pathway which is thought to be central to regulating and maintaining DNA production
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
