Faculty of Medicine, Sydney University, Sydney, NSW 2006, Australia.
Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
Genes (Basel). 2023 Aug 11;14(8):1607. doi: 10.3390/genes14081607.
Over the last 20 years, the understanding and natural history of Rett syndrome has advanced, but to date no cure has emerged, with multidisciplinary management being symptomatic and supportive. This study provides a comprehensive review of the clinical features, comorbidities and multidisciplinary management of a well-characterized cohort of females with classical Rett syndrome. We aim to improve awareness and understanding of Rett syndrome amongst pediatricians, pediatric subspecialists and allied health professionals to enable early diagnosis and a streamlined enrolment approach for future clinical trials. Rett syndrome, a complex X-linked condition, affecting mainly females, is due to pathogenic variants of the gene in most affected individuals. The Rett syndrome Multidisciplinary Management clinic at The Children's Hospital at Westmead, Sydney, Australia, was established in 2000. This retrospective analysis of individuals who attended the clinic from 2000 to 2020 was performed to identify the incidence and predicted age of onset of Rett syndrome related comorbidities, disease progression and to review management principles. Data collected included age of Rett syndrome diagnosis, genotype, clinical features and medical comorbidities, such as sleep disturbance, seizures, breathing irregularities, scoliosis, mobility, hand stereotypies, hand function, constipation, feeding ability, use of gastrostomy, communication skills, QTc prolongation, anthropometry, and bruxism. Analysis of 103 girls who fulfilled the clinical diagnostic criteria for classical Rett syndrome with a pathogenic variant of the gene showed a median age of diagnosis of 3 years. The most frequent variant was c.502 C>T.
在过去的 20 年中，人们对雷特综合征的认识和自然史有了进步，但迄今为止，仍没有治愈方法，多学科管理只是对症支持。本研究对一组具有典型雷特综合征的女性的临床特征、合并症和多学科管理进行了全面综述。我们旨在提高儿科医生、儿科亚专科医生和相关卫生专业人员对雷特综合征的认识和理解，以便能够早期诊断，并为未来的临床试验提供简化的入组途径。雷特综合征是一种主要影响女性的复杂 X 连锁疾病，主要由 基因的致病性变异引起。澳大利亚悉尼韦斯特米德儿童医院的雷特综合征多学科管理诊所于 2000 年成立。对 2000 年至 2020 年期间在该诊所就诊的患者进行了回顾性分析，以确定与雷特综合征相关的合并症的发病和预计发病年龄、疾病进展，并审查管理原则。收集的数据包括雷特综合征的诊断年龄、基因型、临床特征和医学合并症，如睡眠障碍、癫痫发作、呼吸不规则、脊柱侧凸、活动能力、手部刻板动作、手部功能、便秘、喂养能力、使用胃造口术、沟通技巧、QTc 延长、人体测量学和磨牙症。对 103 名符合经典雷特综合征临床诊断标准且携带 基因致病性变异的女孩进行分析，结果显示中位诊断年龄为 3 岁。最常见的变异是 c.502 C>T。
