Neuropsychiatric Functioning in CdLS: A Detailed Phenotype and Genotype Correlation
- Resource Type
- Journal Articles
Reports - Research
- Authors
- Ajmone, Paola Francesca (ORCID 0000-0002-0624-4634); Allegri, Beatrice; Cereda, Anna; Michelini, Giovanni; Dall'Ara, Francesca; Mariani, Milena; Rigamonti, Claudia; Selicorni, Angelo; Vizziello, Paola; Costantino, Maria Antonella
- Source
- Journal of Autism and Developmental Disorders. Nov 2022 52(11):4763-4773.
- Subject
- Autism Spectrum Disorders
Genetic Disorders
Intelligence Quotient
Adjustment (to Environment)
Genetics
- Language
- English
- ISSN
- 0162-3257
1573-3432
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.