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Journal of Autism and Developmental Disorders

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09-11-2021 | Original Paper

Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation

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

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 11/2022

Abstract

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.

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Titel: Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation
Auteurs: Paola Francesca Ajmone
Beatrice Allegri
Anna Cereda
Giovanni Michelini
Francesca Dall’Ara
Milena Mariani
Claudia Rigamonti
Angelo Selicorni
Paola Vizziello
Maria Antonella Costantino
Publicatiedatum: 09-11-2021
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 11/2022
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-021-05343-8

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