Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis

Autor: Andrea T. Thomas, Jane Waite, Caitlin A. Williams, Jeremy Kirk, Chris Oliver, Caroline Richards
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Journal of Neurodevelopmental Disorders, Vol 14, Iss 1, Pp 1-20 (2022)
Druh dokumentu: article
ISSN: 1866-1947
1866-1955
DOI: 10.1186/s11689-022-09459-5
Popis: Abstract 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.
Databáze: Directory of Open Access Journals
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