Behavioural phenotype of Cornelia de Lange syndrome

Abstract

A postal questionnaire was used to study 49 individuals with Cornelia de Lange syndrome (including both the classical and the mild forms) to ascertain behavioural phenotype. Ages ranged from early childhood to adulthood (mean age, 10.2 years; SD, 7.8) and the degree of mental retardation from borderline (10%), through mild (8%), moderate (18%), and severe (20%) to profound (43%). A wide variety of symptoms occurred frequently, notably hyperactivity (40%), self injury (44%), daily aggression (49%), and sleep disturbance (55%). These correlated closely with the presence of an autistic like syndrome and with the degree of mental retardation. The frequency and severity of disturbance, continuing beyond childhood, is important when planning the amount and duration of support required by parents. (Arch Dis Child 1999;81:333-336)

Social Anxiety in Cornelia de Lange Syndrome

“…CdLS is associated with intellectual disability ranging from mild to profound, health problems including vision and hearing impairments and gastro-oesophageal reflux (Berney, Ireland & Burn, 1999;Jackson et al, 1993;Collis et al, 2008;Hall, Arron, Sloneem and Oliver, 2008;. Behavioral problems associated with CdLS include impulsivity, repetitive and self injurious behaviors (Berney et al, 1999;Hyman, Oliver and Hall, 2002, Moss et al, In press). …”

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

“…Social Quotients indicated that 50% of participants had profound disabilities, 14% had severe, 17% moderate, 6% had mild intellectual disabilities and 14% of participants scored within the borderline or normal range. 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.…”

“…Gualtieri (1990) reported that the most common topographies of self-injury include biting (shown by 27% of individuals), hitting (20%), hair pulling (15%), head banging (11%) and picking (10%). Berney et al (1999) also found that finger biting and head banging was common in CdLS. In a recent case control study described higher levels of more mild forms of selfinjury.…”

“…Several studies have reported a heightened probability of autism in affected individuals. Using a revised version of the Autism Behavior Checklist (Krug, Arick & Almond, 1980), Berney et al (1999) Moss et al (2008) demonstrated that 61.8% of individuals with CdLS score above the cut-off for autism compared to 39.7% of individuals with Cri du Chat syndrome (CdCS). These groups were comparable for degree of disability and receptive language skills.…”

“…Although results have varied, research examining self-injury in children and adults with CdLS suggests higher prevalence rates (ranging from 16% to 64%) for self-injurious behaviour within CdLS (Beck, 1987;Berney et al, 1999;Gualtieri, 1990;Hyman et al, 2002;Sarimski, 1997). In a case-control study reported a prevalence of 55.6% which was not statistically significantly higher than that for a matched contrast group (41.3%).…”