Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation

Paola Francesca Ajmone, Beatrice Allegri, Anna Cereda, Giovanni Michelini, Francesca Dall’Ara, Milena Mariani, Claudia Rigamonti, Angelo Selicorni, Paola Vizziello, Maria Antonella Costantino

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
JournalJournal of Autism and Developmental Disorders
Publication statusAccepted/In press - 2021


  • CdLS
  • Genotype–phenotype correlations
  • ID
  • Neuropsychiatric assessment

ASJC Scopus subject areas

  • Developmental and Educational Psychology


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