Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome

Abstract

Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Autism has been reported to occur frequently in CdLS, but the frequency of autism in individuals with the milder CdLS phenotype is not well studied. We investigated autistic features by using a screening tool and a diagnostic interview in 49 individuals with the mild to moderate phenotype from a CdLS research database at the Children’s Hospital of Philadelphia. The Social Communication Questionnaire (SCQ), a screening instrument for autistic disorder, was completed for all individuals. For individuals who screened positive and a subset of those that screened negative, the Autism Diagnostic Interview-Revised (ADI-R) was administered. Autistic symptom severity was not significantly different by gender, age groups, and genotypes. There was a significant correlation between higher levels of adaptive functioning and lower scores of autistic symptoms. The estimated prevalence of significant autistic features by ADI-R criteria was 43% in our cohort of individuals with the mild to moderate CdLS phenotype, which suggests that prevalence of autistic disorder may be higher than previously described among individuals with mild to moderate phenotype of CdLS. Clinicians who take care of individuals with CdLS should have a high index of suspicion for autistic features, and refer for further evaluation when these features are present in order to expedite appropriate intervention.

Development, behaviour and autism in individuals with SMC1A variants

“…Cornelia de Lange Syndrome (CdLS) is an entity characterized by intellectual disability (ID), typical face, limb defects and behavioural problems (Kline et al., ; Mulder et al., ). CdLS can be caused by mutations in several genes, the most frequent ones being NIPBL, SMC3 and SMC1A (Krantz et al., ; Deardorff et al., ; Nakanishi et al., ). Mutations in the gene NIPBL have been reported as causing the most typical CdLS phenotype, evident in arched eyebrows and long eyelashes, ID ranging from profound to normal/borderline, self‐injurious behaviour (SIB) and autism characteristics (Bhuiyan et al., ).…”

A Case Report of Cornelia De Lange Syndrome in Northern Iran; A Clinical and Diagnostic Study

“…Affecting many parts of the body, CdLS is a rare but a well characterized developmental disorder with varied features ranging from relatively mild to severe ones [7]. The disease severity is assessed based on a scoring system in which a score of more than 15 indicates moderate to severe disease [7,8].…”

“…The disease severity is assessed based on a scoring system in which a score of more than 15 indicates moderate to severe disease [7,8].…”

Cornelia de Lange Syndrome: A Variable Disorder of Cohesin Pathology

“…Attention deficit disorder with hyperactivity is also seen. Autistic features are seen in up to 43 % of mild to moderately involved individuals [21], including stereotypies and excessive repetitive behaviors [22 • ], and autism spectrum disorder diagnosed in 78 % of those with CdLS [23]. Neurologically, 20 % may develop seizures.…”