Direct cognitive assessments are rarely appropriate as performance requires adequate communication and minimal sensory impairment. Developmental delay (DD) and intellectual disability (ID) have received the most attention and feature in all diagnostic algorithms (Table 1). While physical health in CS has been extensively documented research on development and behaviour is sparce.
Identifying and understanding these impacts can help build resilience and early support strategies utilising multidisciplinary practices. These conditions will likely have a deleterious impact on emotional and psychological wellbeing. developed a comprehensive checklist for proactive monitoring of common or critical physical conditions and characteristics. ĬS is associated with many disparate physical conditions requiring health monitoring throughout life. However, given the rarity of CS and the spectrum of clinical findings, better delineation of genotype-phenotype associations requires pooling of data across data sets. Prospective investigation of genotype-phenotype correlations has been performed with an association between truncating CHD7 variants and more severe heart defects being identified. The prevailing hypothesis is that the dynamic role of CHD7 during gene expression and neural crest development may account for the pleiotropic signs and symptoms of CS. Mechanistically, CHD7 is essential for the differentiation of gene expression at thousands of sites in the human genome. Heterozygous variants in the chromodomain helicase DNA binding protein 7 (CHD7) cause CS. 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. 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.
Prevalence estimates were highest for developmental delay (84%), intellectual disability (64%), aggressive behaviour (48%), self-injurious behaviour (44%) and sleep difficulties (45%). Of the 42 eligible studies, data could be extracted for 1675 participants. Pooled prevalence estimates were calculated using reliable, prespecified quality weighting criteria, and meta-regression was conducted to identify associations between characteristics. 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. Behavioural, psychological, cognitive and sleep difficulties are not well delineated and are likely associated with biopsychosocial factors. CHARGE syndrome (OMIM #214800) is a phenotypically complex genetic condition characterised by multi-system, multi-sensory impairments.
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