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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.

vorige artikel Exploring Cultural Differences in Autistic Traits: A Factor Analytic Study of Children with Autism in China and the Netherlands

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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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Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation

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Andere artikelen Uitgave 11/2022

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