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Epigenetic aging in Williams syndrome / Satoshi OKAZAKI in Journal of Child Psychology and Psychiatry, 63-12 (December 2022)
[article]
Titre : Epigenetic aging in Williams syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Satoshi OKAZAKI, Auteur ; Ryo KIMURA, Auteur ; Ikuo OTSUKA, Auteur ; Kiyotaka TOMIWA, Auteur ; Yasuko FUNABIKI, Auteur ; Masatoshi HAGIWARA, Auteur ; Toshiya MURAI, Auteur ; Akitoyo HISHIMOTO, Auteur Article en page(s) : p.1553-1562 Langues : Anglais (eng) Mots-clés : Humans Williams Syndrome/genetics Aging/genetics DNA Methylation/genetics Biomarkers Epigenesis, Genetic Aging Williams syndrome epigenetics Index. décimale : PER Périodiques Résumé : BACKGROUND: Williams syndrome (WS) is a rare genetic disorder caused by a microdeletion at the 7q11.23 region and is characterized by diverse symptoms encompassing physical and cognitive features. WS was reported to be associated to altered DNA methylation (DNAm) patterns. However, due to the limited information from long-term studies, it remains unclear whether WS accelerates aging. Genome-wide DNAm profiles can serve as "epigenetic clocks" to help estimate biological aging along with age-related markers, such as plasma proteins and telomere length. METHODS: We investigated GrimAge, DNAm-based telomere length (DNAmTL), and other epigenetic clocks in blood samples of 32 patients with WS and 32 healthy controls. RESULTS: We observed a significant acceleration in GrimAge, DNAmTL, and other epigenetic clocks in patients with WS as compared with those of controls. In addition, several GrimAge components, such as adrenomedullin, growth differentiation factor-15, leptin and plasminogen activator inhibitor-1, were altered in patients with WS. CONCLUSIONS: This study provides novel evidence supporting the hypothesis that WS may be associated to accelerated biological aging. A better understanding of the overall underlying biological effects of WS can provide new foundations for improved patient care; thus, long-term follow-up studies are still warranted. En ligne : http://dx.doi.org/10.1111/jcpp.13613 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=490
in Journal of Child Psychology and Psychiatry > 63-12 (December 2022) . - p.1553-1562[article] Epigenetic aging in Williams syndrome [Texte imprimé et/ou numérique] / Satoshi OKAZAKI, Auteur ; Ryo KIMURA, Auteur ; Ikuo OTSUKA, Auteur ; Kiyotaka TOMIWA, Auteur ; Yasuko FUNABIKI, Auteur ; Masatoshi HAGIWARA, Auteur ; Toshiya MURAI, Auteur ; Akitoyo HISHIMOTO, Auteur . - p.1553-1562.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 63-12 (December 2022) . - p.1553-1562
Mots-clés : Humans Williams Syndrome/genetics Aging/genetics DNA Methylation/genetics Biomarkers Epigenesis, Genetic Aging Williams syndrome epigenetics Index. décimale : PER Périodiques Résumé : BACKGROUND: Williams syndrome (WS) is a rare genetic disorder caused by a microdeletion at the 7q11.23 region and is characterized by diverse symptoms encompassing physical and cognitive features. WS was reported to be associated to altered DNA methylation (DNAm) patterns. However, due to the limited information from long-term studies, it remains unclear whether WS accelerates aging. Genome-wide DNAm profiles can serve as "epigenetic clocks" to help estimate biological aging along with age-related markers, such as plasma proteins and telomere length. METHODS: We investigated GrimAge, DNAm-based telomere length (DNAmTL), and other epigenetic clocks in blood samples of 32 patients with WS and 32 healthy controls. RESULTS: We observed a significant acceleration in GrimAge, DNAmTL, and other epigenetic clocks in patients with WS as compared with those of controls. In addition, several GrimAge components, such as adrenomedullin, growth differentiation factor-15, leptin and plasminogen activator inhibitor-1, were altered in patients with WS. CONCLUSIONS: This study provides novel evidence supporting the hypothesis that WS may be associated to accelerated biological aging. A better understanding of the overall underlying biological effects of WS can provide new foundations for improved patient care; thus, long-term follow-up studies are still warranted. En ligne : http://dx.doi.org/10.1111/jcpp.13613 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=490 Sensory Processing in Williams Syndrome: Individual differences and changes over time / Bradley POWELL in Journal of Autism and Developmental Disorders, 52-7 (July 2022)
[article]
Titre : Sensory Processing in Williams Syndrome: Individual differences and changes over time Type de document : Texte imprimé et/ou numérique Auteurs : Bradley POWELL, Auteur ; Jo VAN HERWEGEN, Auteur Article en page(s) : p.3129-3141 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder Cross-Sectional Studies Humans Individuality Perception Williams Syndrome/genetics Hyperacusis Longitudinal Sensory processing Sensory registration Williams syndrome Index. décimale : PER Périodiques Résumé : This study examined individual differences as well as the development of sensory processing difficulties in children with Williams syndrome (WS) using a cross-sectional (Experiment 1) and longitudinal design (Experiment 2). In Experiment 1, a clustering approach of sensory processing scores suggested two groups. Experiment 2 showed that the clusters identified in Experiment 1 were not stable across development, especially for those with high sensory impairments at either time point. Yet, most children experienced high impairments in sensory registration at both time points, suggesting impaired registration is a core phenotype of sensory processing in children with WS across development. Possible mechanisms, limitations and implications are discussed. En ligne : http://dx.doi.org/10.1007/s10803-021-05197-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=477
in Journal of Autism and Developmental Disorders > 52-7 (July 2022) . - p.3129-3141[article] Sensory Processing in Williams Syndrome: Individual differences and changes over time [Texte imprimé et/ou numérique] / Bradley POWELL, Auteur ; Jo VAN HERWEGEN, Auteur . - p.3129-3141.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-7 (July 2022) . - p.3129-3141
Mots-clés : Autism Spectrum Disorder Cross-Sectional Studies Humans Individuality Perception Williams Syndrome/genetics Hyperacusis Longitudinal Sensory processing Sensory registration Williams syndrome Index. décimale : PER Périodiques Résumé : This study examined individual differences as well as the development of sensory processing difficulties in children with Williams syndrome (WS) using a cross-sectional (Experiment 1) and longitudinal design (Experiment 2). In Experiment 1, a clustering approach of sensory processing scores suggested two groups. Experiment 2 showed that the clusters identified in Experiment 1 were not stable across development, especially for those with high sensory impairments at either time point. Yet, most children experienced high impairments in sensory registration at both time points, suggesting impaired registration is a core phenotype of sensory processing in children with WS across development. Possible mechanisms, limitations and implications are discussed. En ligne : http://dx.doi.org/10.1007/s10803-021-05197-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=477