Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis / Andrea T. THOMAS in Journal of Neurodevelopmental Disorders, 14 (2022)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 14 (2022) Titre : Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis Type de document : texte imprimé Auteurs : Andrea T. THOMAS, Auteur ; Jane WAITE, Auteur ; Caitlin A. WILLIAMS, Auteur ; Jeremy KIRK, Auteur ; Chris OLIVER, Auteur ; Caroline RICHARDS, Auteur Langues : Anglais (eng) Mots-clés : Aggression  CHARGE Syndrome/complications/epidemiology  Humans  Intellectual Disability/complications/epidemiology/psychology  Self-Injurious Behavior/epidemiology/psychology  Sleep Wake Disorders  Aggressive behaviour  Behavioural phenotype  CHARGE syndrome  Intellectual disability  Self-injurious behaviour  Sensory impairment  Sleep Index. décimale : PER Périodiques Résumé : BACKGROUND: CHARGE syndrome (OMIM #214800) is a phenotypically complex genetic condition characterised by multi-system, multi-sensory impairments. Behavioural, psychological, cognitive and sleep difficulties are not well delineated and are likely associated with biopsychosocial factors. METHODS: This meta-analysis investigated the prevalence of clinical features, physical characteristics and conditions, behavioural, psychological, cognitive and sleep characteristics in CHARGE syndrome, and statistically evaluated directional associations between these characteristics. Pooled prevalence estimates were calculated using reliable, prespecified quality weighting criteria, and meta-regression was conducted to identify associations between characteristics. RESULTS: Of the 42 eligible studies, data could be extracted for 1675 participants. Prevalence estimates were highest for developmental delay (84%), intellectual disability (64%), aggressive behaviour (48%), self-injurious behaviour (44%) and sleep difficulties (45%). Meta-regression indicated significant associations between intellectual disability and choanal atresia, intellectual disability and inner ear anomalies, sleep difficulties and growth deficiency, and sleep difficulties and gross motor difficulties. CONCLUSIONS: Our comprehensive review of clinical features, behavioural, psychological, cognitive and physical characteristics, conditions and comorbidities in CHARGE syndrome provides an empirically based foundation to further research and practice. En ligne : https://dx.doi.org/10.1186/s11689-022-09459-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis [texte imprimé] / Andrea T. THOMAS, Auteur ; Jane WAITE, Auteur ; Caitlin A. WILLIAMS, Auteur ; Jeremy KIRK, Auteur ; Chris OLIVER, Auteur ; Caroline RICHARDS, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 14 (2022) Mots-clés : Aggression  CHARGE Syndrome/complications/epidemiology  Humans  Intellectual Disability/complications/epidemiology/psychology  Self-Injurious Behavior/epidemiology/psychology  Sleep Wake Disorders  Aggressive behaviour  Behavioural phenotype  CHARGE syndrome  Intellectual disability  Self-injurious behaviour  Sensory impairment  Sleep Index. décimale : PER Périodiques Résumé : BACKGROUND: CHARGE syndrome (OMIM #214800) is a phenotypically complex genetic condition characterised by multi-system, multi-sensory impairments. Behavioural, psychological, cognitive and sleep difficulties are not well delineated and are likely associated with biopsychosocial factors. METHODS: This meta-analysis investigated the prevalence of clinical features, physical characteristics and conditions, behavioural, psychological, cognitive and sleep characteristics in CHARGE syndrome, and statistically evaluated directional associations between these characteristics. Pooled prevalence estimates were calculated using reliable, prespecified quality weighting criteria, and meta-regression was conducted to identify associations between characteristics. RESULTS: Of the 42 eligible studies, data could be extracted for 1675 participants. Prevalence estimates were highest for developmental delay (84%), intellectual disability (64%), aggressive behaviour (48%), self-injurious behaviour (44%) and sleep difficulties (45%). Meta-regression indicated significant associations between intellectual disability and choanal atresia, intellectual disability and inner ear anomalies, sleep difficulties and growth deficiency, and sleep difficulties and gross motor difficulties. CONCLUSIONS: Our comprehensive review of clinical features, behavioural, psychological, cognitive and physical characteristics, conditions and comorbidities in CHARGE syndrome provides an empirically based foundation to further research and practice. En ligne : https://dx.doi.org/10.1186/s11689-022-09459-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

---

1 (1 - 1 / 1) Par page : 25 50 100 200