雷特综合征骨科疾病的患病率:系统回顾和荟萃分析。

IF 2.1 2区 医学 Q1 EDUCATION, SPECIAL
M. Galán-Olleros, E. González-Alguacil, V. Soto-Insuga, M. T. Vara-Arias, N. V. Ortiz-Cabrera, R. M. Egea-Gámez, J. J. García-Peñas, I. Martínez-Caballero, RTT-HNJ, Rett Syndrome Multidisciplinary Group of Hospital Infantil Universitario Niño Jesús
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引用次数: 0

摘要

背景:雷特综合征(RTT)是一种主要影响女孩的发育障碍,与甲基-CpG结合蛋白-2(MECP2)基因突变有关。我们的目的是界定 RTT 患者骨科疾病的发病率:我们检索了三个数据库,并由两名审稿人进行独立筛选,以检索 2000 年后发表的观察性研究,这些研究招募了 10 名或以上被诊断为 RTT 的患者,并报告了任何骨科疾病(脊柱侧弯、髋关节移位、膝关节问题或足部畸形)的患病率。我们进行了随机效应荟萃分析,以确定基于研究权重的汇总患病率:在筛选出的 867 项研究中,有 21 项研究符合纳入标准,这些研究涉及 9997 名患有 RTT 的女孩(平均年龄为 14.1 岁;年龄范围为 3-38.5 岁)。脊柱侧弯的合计患病率为 64.5% [95% 置信区间 (CI) 55.4-73.6%;I2 = 99%;P 2 = 97%;P 2 = 98%;P 2 = 99%;P 2 = 100%;P 2 = 81%;P 结论:这项荟萃分析发现,大约每三个 RTT 女孩中就有两个会出现脊柱侧弯,每两个女孩中就有一个会出现足部畸形,每三个女孩中就有一个会出现髋关节移位。这些发现加深了我们对RTT骨科疾病患病率的了解,可指导制定适合RTT患者需求的监测方案、临床指南和管理策略。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Prevalence of orthopaedic conditions in Rett syndrome: a systematic review and meta-analysis

Prevalence of orthopaedic conditions in Rett syndrome: a systematic review and meta-analysis

Background

Rett syndrome (RTT), a developmental disorder primarily affecting girls and linked to methyl-CpG binding protein-2 (MECP2) gene mutations, presents musculoskeletal abnormalities with varying prevalence across studies and age groups. Our aim was to delineate the prevalence of orthopaedic conditions in individuals with RTT.

Method

Three databases were searched and independently screened by two reviewers to retrieve observational studies published after 2000 that recruited 10 or more patients diagnosed with RTT and reported the prevalence of any orthopaedic conditions (scoliosis, hip displacement, knee problems or foot deformities). A random-effects meta-analysis was performed to determine the pooled prevalence based on study weight.

Results

Of 867 screened studies, 21 studies involving 9997 girls with RTT (mean age 14.1 years; range, 3–38.5) met the inclusion criteria. The pooled prevalence of scoliosis was 64.5% [95% confidence interval (CI) 55.4–73.6%; I2 = 99%; P < 0.01], of hip displacement was 29.6% (95% CI 8.9–50.2%; I2 = 97%; P < 0.01) and of foot deformities was 53% (95% CI 17.5–89.2%; I2 = 98%; P < 0.01). Knee problems were reported in only one study. Scoliosis prevalence increased in studies with a high percentage of genetic testing and MECP2 positivity [69.1% (95% CI 58.9–79.2%; I2 = 99%; P < 0.01)], those with a mean age over 13 years [73% (95% CI 59.1–87%; I2 = 100%; P < 0.01)], and studies combining both variables [80.13% (95% CI 70.8–89.4%; I2 = 81%; P < 0.01)].

Conclusions

This meta-analysis found that approximately two in three girls with RTT develop scoliosis, one in two exhibit foot deformities and one in three experience hip displacement. These findings enhance our understanding of the prevalence of orthopaedic conditions in RTT, which can guide the establishment of surveillance protocols, clinical guidelines and management strategies tailored to the needs of RTT patients.

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来源期刊
CiteScore
5.60
自引率
5.60%
发文量
81
期刊介绍: The Journal of Intellectual Disability Research is devoted exclusively to the scientific study of intellectual disability and publishes papers reporting original observations in this field. The subject matter is broad and includes, but is not restricted to, findings from biological, educational, genetic, medical, psychiatric, psychological and sociological studies, and ethical, philosophical, and legal contributions that increase knowledge on the treatment and prevention of intellectual disability and of associated impairments and disabilities, and/or inform public policy and practice. Expert reviews on themes in which recent research has produced notable advances will be included. Such reviews will normally be by invitation.
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