PDF(Pubmed)
Abstract：
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.
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.
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.
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.
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.
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.
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.
摘要：
CHARGE综合征（OMIM#214800）是一种表型复杂的遗传病症，其特征是多系统，多感觉障碍。行为,心理,认知和睡眠困难没有得到很好的描述,可能与生物心理社会因素有关.
这项荟萃分析调查了临床特征的患病率，物理特性和条件，行为，心理,CHARGE综合征的认知和睡眠特征，并统计评估这些特征之间的方向关联。汇总的患病率估计值是使用可靠的，预先指定的质量加权标准，进行meta回归以确定特征之间的关联.
在42项符合条件的研究中,可以提取1675名参与者的数据。发育迟缓的患病率估计最高(84%)，智力残疾（64%），攻击性行为（48%），自我伤害行为（44％）和睡眠困难（45％）。Meta回归表明智力障碍和后鼻孔闭锁之间存在显著关联，智力障碍和内耳异常，睡眠困难和生长不足，睡眠困难和运动障碍。
我们对临床特征的全面回顾，行为，心理,认知和身体特征，CHARGE综合征的条件和合并症为进一步的研究和实践提供了基于经验的基础。
这项荟萃分析调查了临床特征的患病率，物理特性和条件，行为，心理,CHARGE综合征的认知和睡眠特征，并统计评估这些特征之间的方向关联。汇总的患病率估计值是使用可靠的，预先指定的质量加权标准，进行meta回归以确定特征之间的关联.
在42项符合条件的研究中,可以提取1675名参与者的数据。发育迟缓的患病率估计最高(84%)，智力残疾（64%），攻击性行为（48%），自我伤害行为（44％）和睡眠困难（45％）。Meta回归表明智力障碍和后鼻孔闭锁之间存在显著关联，智力障碍和内耳异常，睡眠困难和生长不足，睡眠困难和运动障碍。
我们对临床特征的全面回顾，行为，心理,认知和身体特征，CHARGE综合征的条件和合并症为进一步的研究和实践提供了基于经验的基础。
