Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation / Paola Francesca AJMONE in Journal of Autism and Developmental Disorders, 52-11 (November 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-11 (November 2022) . - p.4763-4773 Titre : Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation Type de document : Texte imprimé et/ou numérique Auteurs : Paola Francesca AJMONE, Auteur ; Beatrice ALLEGRI, Auteur ; Anna CEREDA, Auteur ; Giovanni MICHELINI, Auteur ; Francesca DALL'ARA, Auteur ; Milena MARIANI, Auteur ; Claudia RIGAMONTI, Auteur ; Angelo SELICORNI, Auteur ; Paola VIZZIELLO, Auteur ; Maria Antonella COSTANTINO, Auteur Article en page(s) : p.4763-4773 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/genetics  Cell Cycle Proteins/genetics  De Lange Syndrome/diagnosis  Genotype  Humans  Phenotype  CdLS  Genotype-phenotype correlations  Id  Nipbl  Neuropsychiatric assessment Index. décimale : PER Périodiques Résumé : 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. En ligne : http://dx.doi.org/10.1007/s10803-021-05343-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=489 [article] Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation [Texte imprimé et/ou numérique] / Paola Francesca AJMONE, Auteur ; Beatrice ALLEGRI, Auteur ; Anna CEREDA, Auteur ; Giovanni MICHELINI, Auteur ; Francesca DALL'ARA, Auteur ; Milena MARIANI, Auteur ; Claudia RIGAMONTI, Auteur ; Angelo SELICORNI, Auteur ; Paola VIZZIELLO, Auteur ; Maria Antonella COSTANTINO, Auteur . - p.4763-4773. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-11 (November 2022) . - p.4763-4773 Mots-clés : Autism Spectrum Disorder/genetics  Cell Cycle Proteins/genetics  De Lange Syndrome/diagnosis  Genotype  Humans  Phenotype  CdLS  Genotype-phenotype correlations  Id  Nipbl  Neuropsychiatric assessment Index. décimale : PER Périodiques Résumé : 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. En ligne : http://dx.doi.org/10.1007/s10803-021-05343-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=489

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