Goel Dimple, Wilson Andrew, Baynam Gareth, Waters Karen, Pillow Jane, Rao Shripada
Perth Children's Hospital, Perth, Western Australia, Australia; University of Western Australia, Perth, Western Australia, Australia.
Perth Children's Hospital, Perth, Western Australia, Australia; Curtin University, Perth, Western Australia, Australia.
Early Hum Dev. 2025 Feb;201:106185. doi: 10.1016/j.earlhumdev.2024.106185. Epub 2024 Dec 21.
To estimate the global prevalence of neurodevelopmental impairment in children with Robin sequence (RS) at one year or more of age.
Electronic databases such as PubMed, Embase, CINAHL, APA PsycInfo, Emcare, MedNAR and Cochrane library were searched systematically from inception to 31st May 2024. Studies reporting on the neurodevelopmental (global, cognitive, or motor) outcomes in children with RS were included. Data was extracted using a standardized form by two independent reviewers. Overall and subgroup-specific prevalence (95% CI) of neurodevelopmental impairment was estimated with random-effects meta-analysis. Subgroup analyses were performed for three categories of RS: isolated (no other associated abnormalities), syndromic RS (associated with a genetic syndrome), and RS plus (associated with non-syndromic congenital abnormalities).
A total of 2919 records were screened. Seventeen studies were included in the systematic review, of which data from 16 studies (n = 1008) were pooled for meta-analysis. The overall prevalence of neurodevelopmental impairment was 19 % (12-26 %). Neurodevelopmental impairment prevalence in isolated RS was 10 % (5 to16%), syndromic RS 19 % (02 to44%), and RS plus 63 % (39 to84%). The overall prevalence in non-isolated RS (syndromic and plus) was 35 % (22 to49%).
This is first systematic review and meta-analysis to report on the global prevalence of neurodevelopmental impairment in children with RS. Children with RS are at high risk of neurodevelopmental impairment and should be considered for long-term neurodevelopmental follow up. These findings will guide clinician counselling of parents, resource allocation, facilitate benchmarking, and enable the assessment of treatment impact in future studies.
评估年龄在一岁及以上的罗宾序列征（RS）患儿神经发育障碍的全球患病率。
对PubMed、Embase、CINAHL、APA PsycInfo、Emcare、MedNAR和Cochrane图书馆等电子数据库进行系统检索，检索时间从建库至2024年5月31日。纳入报告RS患儿神经发育（整体、认知或运动）结局的研究。由两名独立评审员使用标准化表格提取数据。采用随机效应荟萃分析估计神经发育障碍的总体患病率和特定亚组患病率（95%可信区间）。对三类RS进行亚组分析：孤立型（无其他相关异常）、综合征型RS（与遗传综合征相关）和RS附加型（与非综合征性先天性异常相关）。
共筛选出2919条记录。17项研究纳入系统评价，其中16项研究（n = 1008）的数据用于荟萃分析。神经发育障碍的总体患病率为19%（12%-26%）。孤立型RS的神经发育障碍患病率为10%（5%-16%），综合征型RS为19%（2%-44%），RS附加型为63%（39%-84%）。非孤立型RS（综合征型和附加型）的总体患病率为35%（22%-49%）。
这是首次关于RS患儿神经发育障碍全球患病率的系统评价和荟萃分析。RS患儿存在神经发育障碍的高风险，应考虑进行长期神经发育随访。这些发现将指导临床医生为家长提供咨询、资源分配、促进基准设定，并有助于评估未来研究中的治疗效果。
