TY - JOUR
T1 - Neuropsychiatric Functioning in CDLS
T2 - A Detailed Phenotype and Genotype Correlation
AU - Ajmone, Paola Francesca
AU - Allegri, Beatrice
AU - Cereda, Anna
AU - Michelini, Giovanni
AU - Dall’Ara, Francesca
AU - Mariani, Milena
AU - Rigamonti, Claudia
AU - Selicorni, Angelo
AU - Vizziello, Paola
AU - Costantino, Maria Antonella
N1 - Publisher Copyright:
© 2021, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.
PY - 2021
Y1 - 2021
N2 - 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.
AB - 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.
KW - CdLS
KW - Genotype–phenotype correlations
KW - ID
KW - Neuropsychiatric assessment
KW - NIPBL
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U2 - 10.1007/s10803-021-05343-8
DO - 10.1007/s10803-021-05343-8
M3 - Article
AN - SCOPUS:85118680554
SN - 0162-3257
JO - Journal of Autism and Developmental Disorders
JF - Journal of Autism and Developmental Disorders
ER -