Behavioral Phenotype and Autism Spectrum Disorders in Cornelia de Lange Syndrome.

Lucia Parisi,Michele Roccella,Teresa Di Filippo

doi:10.4081/mi.2015.5988

Abstract

Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. Heterozygous point mutations in three genes (NIPBL, SMC3 and SMC1A), are responsible for approximately 50-60% of CdLS cases. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in CdLS. However, the profile and developmental trajectories of these ASD characteristics are potentially different to those observed in individuals with idiopathic ASD. A significantly higher prevalence of self-injury are evident in CdLS. Self-injury was associated with repetitive and impulsive behavior. This study describes the behavioral phenotype of four children with Cornelia de Lange syndrome and ASDs and rehabilitative intervention that must be implemented.

Highlights

Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, prenatal and postnatal growth deficiency, psychomotor delay, behavioral problems, and malformations of the upper extremities.[1,2,3,4,5,6,7,8,9]
The prevalence of autism spectrum disorders (ASDs) symptomatology is comparatively high in CdLS
This study describes the behavioral phenotype of four children with Cornelia de Lange syndrome and autism spectrum disorders

Summary

Introduction

Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, prenatal and postnatal growth deficiency, psychomotor delay, behavioral problems, and malformations of the upper extremities.[1,2,3,4,5,6,7,8,9] The exact incidence of the syndrome is unclear as the data published in the literature are not in agreement: it is reported incidence rates is 1/10,000 births in older works, and 1/20,000 to 1/40,000 births, in more recent papers.

Results

Conclusion