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

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 el

SUBMITTER: Thomas AT 

PROVIDER: S-EPMC9429597 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature