Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation.
- Resource Type
- Article
- Authors
- Ajmone, Paola Francesca, ; Allegri, Beatrice; Cereda, Anna; Michelini, Giovanni; Dall'Ara, Francesca; Mariani, Milena; Rigamonti, Claudia; Selicorni, Angelo; Vizziello, Paola; Costantino, Maria Antonella
- Source
- Journal of Autism & Developmental Disorders; Nov2022, Vol. 52 Issue 11, p4763-4773, 11p, 5 Charts, 1 Graph
- Subject
- Neuropsychology
Comparative studies
Intellect
Autism
De Lange's syndrome
Functional status
Genotypes
Descriptive statistics
Phenotypes
Medical needs assessment
- Language
- ISSN
- 01623257
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. [ABSTRACT FROM AUTHOR]