RESEARCH - Cornelia deLange Syndrome (CdLS)

Behavioral Phenotype of Children with Cornelia
de Lange Syndrome (CdLS)

Principal Investigator: Marco Grados, M.D., M.P.H.

This research project, funded by the CdLS foundation of the USA, aims to delineate the behavioral phenotype of CdLS in children ages 5-17 years in relation to measure of maladaptive behavior, autism features, compulsive behaviors, medical manifestations of the disorder, parental stress and family functioning. The design uses mail questionnaires and phone interviews to characterize the full behavioral phenotype of CdLS to eventually associate any behavioral patterns obtained to genetic testing. The CdLS gene, NIPBL, was discovered in 2005 and is a regulator gene of homeobox and other gene systems. While the relationship of NIPBL to behavioral manifestations in CdLS is probably complex, the known genetic networks that NIPBL may impact can give some clues to what causes maladaptive behaviors in children with CdLS. For example, limb sculpting changes (2,3 toe syndactyly) has been found to be highly associated with autistic features in the pilot data, which point to gene networks in common between the two phenomena.