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Phenotypic characteristics and variability in CHARGE syndrome : a PRISMA compliant systematic review and meta-analysis
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Thomas, Andrea T., Waite, Jane, Williams, Caitlin A., Kirk, Jeremy, Oliver, Chris and Richards, Caroline (2022) Phenotypic characteristics and variability in CHARGE syndrome : a PRISMA compliant systematic review and meta-analysis. Journal of Neurodevelopmental Disorders, 14 (1). 49. doi:10.1186/s11689-022-09459-5
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WRAP-Phenotypic-characteristics-and-variability-in-CHARGE-syndrome-a-PRISMA-compliant-systematic-review-and-meta-analysis-Williams-2022.pdf - Published Version - Requires a PDF viewer. Available under License Creative Commons Attribution 4.0. Download (2461Kb) | Preview |
Official URL: http://dx.doi.org/10.1186/s11689-022-09459-5
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.
Item Type: | Journal Item | ||||||||||||
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Subjects: | B Philosophy. Psychology. Religion > BF Psychology R Medicine > RB Pathology R Medicine > RC Internal medicine |
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Divisions: | Faculty of Social Sciences > Centre for Educational Development, Appraisal and Research (CEDAR) | ||||||||||||
Library of Congress Subject Headings (LCSH): | Communicative disorders -- Genetic aspects, Velocardiofacial syndrome , Sensory integration dysfunction , Human behavior, Aggressiveness , Self-injurious behavior , Intellectual disability | ||||||||||||
Journal or Publication Title: | Journal of Neurodevelopmental Disorders | ||||||||||||
Publisher: | BioMed Central Ltd. | ||||||||||||
ISSN: | 1866-1947 | ||||||||||||
Official Date: | 31 August 2022 | ||||||||||||
Dates: |
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Volume: | 14 | ||||||||||||
Number: | 1 | ||||||||||||
Number of Pages: | 20 | ||||||||||||
Article Number: | 49 | ||||||||||||
DOI: | 10.1186/s11689-022-09459-5 | ||||||||||||
Status: | Peer Reviewed | ||||||||||||
Publication Status: | Published | ||||||||||||
Access rights to Published version: | Open Access (Creative Commons) | ||||||||||||
Date of first compliant deposit: | 20 September 2022 | ||||||||||||
Date of first compliant Open Access: | 20 September 2022 | ||||||||||||
RIOXX Funder/Project Grant: |
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