Ajmone, P. F., Allegri, B., Cereda, A., Michelini, G., Dall’Ara, F., Mariani, M., Rigamonti, C., Selicorni, A., Vizziello, P., & Costantino, M. A. (2022). Neuropsychiatric functioning in CDLS: A detailed phenotype and genotype correlation. Journal of Autism and Developmental Disorders, 52(11), 4763–4773.


Behavioural phenotype and autism-related traits of 38 patients affected by Cornelia de Lange syndrome (CdLS) were assessed using a specific neuropsychiatric protocol. Subsequently,we search for possible genotype–phenotype correlations comparing individuals with NIPBL variants and patients with negative molecular results. Firstly results showed a higher percentage of subjects with normal intellectual quotient (IQ) and borderline IQ; adaptive skills were lower than expected for age in all participants. 39.5% of the sample presented with autism spectrum disorder (ASD), NIPBL mutated individuals demonstrated a worse trend in comparison with the clinical diagnosis group. non-truncating individuals displayed no ASD and better communication abilities than truncating individuals. Findings increase our awareness of the strengths and weaknesses points in CdLS individuals.