Journal of autism and developmental disorders · 2021
Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation.
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Ajmone Paola Francesca, Allegri Beatrice, Cereda Anna, Michelini Giovanni, Dall'Ara Francesca, Mariani Milena, Rigamonti Claudia, Selicorni Angelo, Vizziello Paola, Costantino Maria Antonella
Аннотация
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.