Communication, cognitive development and behavior in children with Cornelia de Lange Syndrome (CdLS): Preliminary results

Abstract

In this study, we present preliminary data on cognitive, behavioral and communication domains of individuals with Cornelia de Lange Syndrome (CdLS), collected through a specific protocol combining direct and indirect tools. Seventeen subjects with CdLS were assessed, 2.5- to 13.4-year-old. Cognitive level of the subjects differed from what previously described in literature, showing more patients with normal or borderline cognitive abilities. We found a relation between severe autistic behavior and comprehension impairments: all children with high CARS score have severe receptive language disability. A correlation was also found between CARS score and ID: high CARS score occurred only in patients with profound levels of ID. Results of this study support the need for a specific assessment protocol tailored for the characteristics of subjects with multiple disabilities, to be able to identify their strengths avoiding the avalanche effect of weaknesses. Most tests on neuropsychological functions have been developed and standardized for typically developing children, and require the integrity of other functions aside the one that is evaluated, determining an underestimation of the level of functioning. This study could be a starting point to develop new models applicable to other genetic syndromes and complex situations; new and wider studies are needed in order to allow a more complete and accurate assessment, thereby ensuring more efficient and family-centered treatment plans.

Behaviour in Cornelia de Lange syndrome: a systematic review

“…Six studies reported the presence of mutations in one or more genes . Four of these studies stratified data by genetic cause for development and behaviour.…”

“…13,28 Six studies reported the presence of mutations in one or more genes. 3,5,[29][30][31][32] Four of these studies stratified data by genetic cause for development and behaviour. Nakanishi et al 3 reported Autism Diagnostic Interview-Revised (ADI-R) and Vineland Adaptive Behavior Scales (VABS) results for patients with an NIPBL mutation (n=22) and ADI-R results for patients with an SMC1A mutation (n=3).…”

Cornelia de Lange syndrome

“…To date 36 different SMC1A mutations (28 missense mutations, 1 splice-site mutation, and 7 in-frame deletions) have been reported in 54 unrelated patients, 11 of which belong to four families (9,35,48,(53)(54)(55)(56)(57)(58). Furthermore, a t(X;8)(p.11.2;q24.3) translocation and an approximately 8 kb intragenic deletion including exons [14][15][16] have been reported (59,60). SMC1A escapes X-inactivation partially and mutations are identified in both genders with a female:male ratio of 2.4:1 (56).…”

Development, behaviour and autism in individuals with SMC1A variants

“…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., ). An atypical presentation of autism, repetitive and stereotypical behaviour, social withdrawal, anxiety and expressive‐receptive language discrepancy have often been described in individuals with CdLS (Ajmone et al., ; Moss, Howlin, Magiati, & Oliver, ; Moss, Richards, Nelson, & Oliver, ; Oliver, Arron, Sloneem, & Hall, ).…”