Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation

J Autism Dev Disord. 2022 Nov;52(11):4763-4773. doi: 10.1007/s10803-021-05343-8. Epub 2021 Nov 9.


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.

Keywords: CdLS; Genotype–phenotype correlations; ID; NIPBL; Neuropsychiatric assessment.

MeSH terms

  • Autism Spectrum Disorder* / genetics
  • Cell Cycle Proteins / genetics
  • De Lange Syndrome* / diagnosis
  • Genotype
  • Humans
  • Phenotype


  • Cell Cycle Proteins
  • NIPBL protein, human