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Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation / Paola Francesca AJMONE in Journal of Autism and Developmental Disorders, 52-11 (November 2022)
[article]
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
in Journal of Autism and Developmental Disorders > 52-11 (November 2022) . - p.4763-4773[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 Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance / D. REID in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)
[article]
Titre : Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance Type de document : Texte imprimé et/ou numérique Auteurs : D. REID, Auteur ; J. MOSS, Auteur ; L. NELSON, Auteur ; L. GROVES, Auteur ; C. OLIVER, Auteur Article en page(s) : p.29 Langues : Anglais (eng) Mots-clés : Behavioural phenotype CdLS Cornelia de Lange Executive functioning Index. décimale : PER Périodiques Résumé : BACKGROUND: The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment. METHODS: Participants were 24 individuals with CdLS aged 13-42 years (M = 22; SD = 8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15-33 years (M = 24; SD = 5.82). Measures were selected to test verbal and visual fluency, inhibition, perseverance/flexibility, and working memory and comprised both questionnaire and performance tests. RESULTS: Individuals with CdLS showed significantly greater impairment on tasks requiring flexibility and inhibition (rule switch) and on forwards span capacity. These impairments were also reported in the parent/carer-rated questionnaire measures. Backwards Digit Span was significantly negatively correlated with chronological age in CdLS, indicating increased deficits with age. This was not identified in individuals with DS. CONCLUSIONS: The relative deficits in executive functioning task performance are important in understanding the behavioural phenotype of CdLS. Prospective longitudinal follow-up is required to examine further the changes in executive functioning with age and if these map onto observed changes in behaviour in CdLS. Links with recent research indicating heightened responses to oxidative stress in CdLS may also be important. En ligne : http://dx.doi.org/10.1186/s11689-017-9208-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.29[article] Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance [Texte imprimé et/ou numérique] / D. REID, Auteur ; J. MOSS, Auteur ; L. NELSON, Auteur ; L. GROVES, Auteur ; C. OLIVER, Auteur . - p.29.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.29
Mots-clés : Behavioural phenotype CdLS Cornelia de Lange Executive functioning Index. décimale : PER Périodiques Résumé : BACKGROUND: The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment. METHODS: Participants were 24 individuals with CdLS aged 13-42 years (M = 22; SD = 8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15-33 years (M = 24; SD = 5.82). Measures were selected to test verbal and visual fluency, inhibition, perseverance/flexibility, and working memory and comprised both questionnaire and performance tests. RESULTS: Individuals with CdLS showed significantly greater impairment on tasks requiring flexibility and inhibition (rule switch) and on forwards span capacity. These impairments were also reported in the parent/carer-rated questionnaire measures. Backwards Digit Span was significantly negatively correlated with chronological age in CdLS, indicating increased deficits with age. This was not identified in individuals with DS. CONCLUSIONS: The relative deficits in executive functioning task performance are important in understanding the behavioural phenotype of CdLS. Prospective longitudinal follow-up is required to examine further the changes in executive functioning with age and if these map onto observed changes in behaviour in CdLS. Links with recent research indicating heightened responses to oxidative stress in CdLS may also be important. En ligne : http://dx.doi.org/10.1186/s11689-017-9208-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance / D. REID in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)
[article]
Titre : Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance Type de document : Texte imprimé et/ou numérique Auteurs : D. REID, Auteur ; J. MOSS, Auteur ; L. NELSON, Auteur ; L. GROVES, Auteur ; C. OLIVER, Auteur Article en page(s) : p.29 Langues : Anglais (eng) Mots-clés : Behavioural phenotype CdLS Cornelia de Lange Executive functioning Index. décimale : PER Périodiques Résumé : BACKGROUND: The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment. METHODS: Participants were 24 individuals with CdLS aged 13-42 years (M = 22; SD = 8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15-33 years (M = 24; SD = 5.82). Measures were selected to test verbal and visual fluency, inhibition, perseverance/flexibility, and working memory and comprised both questionnaire and performance tests. RESULTS: Individuals with CdLS showed significantly greater impairment on tasks requiring flexibility and inhibition (rule switch) and on forwards span capacity. These impairments were also reported in the parent/carer-rated questionnaire measures. Backwards Digit Span was significantly negatively correlated with chronological age in CdLS, indicating increased deficits with age. This was not identified in individuals with DS. CONCLUSIONS: The relative deficits in executive functioning task performance are important in understanding the behavioural phenotype of CdLS. Prospective longitudinal follow-up is required to examine further the changes in executive functioning with age and if these map onto observed changes in behaviour in CdLS. Links with recent research indicating heightened responses to oxidative stress in CdLS may also be important. En ligne : http://dx.doi.org/10.1186/s11689-017-9208-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.29[article] Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance [Texte imprimé et/ou numérique] / D. REID, Auteur ; J. MOSS, Auteur ; L. NELSON, Auteur ; L. GROVES, Auteur ; C. OLIVER, Auteur . - p.29.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.29
Mots-clés : Behavioural phenotype CdLS Cornelia de Lange Executive functioning Index. décimale : PER Périodiques Résumé : BACKGROUND: The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment. METHODS: Participants were 24 individuals with CdLS aged 13-42 years (M = 22; SD = 8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15-33 years (M = 24; SD = 5.82). Measures were selected to test verbal and visual fluency, inhibition, perseverance/flexibility, and working memory and comprised both questionnaire and performance tests. RESULTS: Individuals with CdLS showed significantly greater impairment on tasks requiring flexibility and inhibition (rule switch) and on forwards span capacity. These impairments were also reported in the parent/carer-rated questionnaire measures. Backwards Digit Span was significantly negatively correlated with chronological age in CdLS, indicating increased deficits with age. This was not identified in individuals with DS. CONCLUSIONS: The relative deficits in executive functioning task performance are important in understanding the behavioural phenotype of CdLS. Prospective longitudinal follow-up is required to examine further the changes in executive functioning with age and if these map onto observed changes in behaviour in CdLS. Links with recent research indicating heightened responses to oxidative stress in CdLS may also be important. En ligne : http://dx.doi.org/10.1186/s11689-017-9208-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350