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| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Petriti, Uarda Dudman, Daniel C. Scosyrev, Emil Lopez-Leon, Sandra |
| Abstract | Background Rett syndrome is a rare, severe neurodevelopmental disorder. Almost all cases occur in girls, in association with spontaneous (non-inherited) mutations involving the methyl-CpG-binding protein 2 gene located on the X chromosome. Diagnostic criteria for typical Rett syndrome require a period of regression, followed by recovery or stabilization, and fulfillment of all four main criteria (loss of purposeful hand skills, loss of spoken language, gait abnormalities, and stereotypic hand movements). Our objective was to estimate the prevalence of Rett syndrome in the general population, stratified by sex. Methods We conducted a search of PubMed, Embase, Web of Science, Cochrane Library, LILACS, and LIVIVO to retrieve studies published in English between Jan. 1, 2000, and June 30, 2021. Pooled prevalence with a 95% confidence interval (CI) was estimated using a random-effects meta-analysis based on a generalized linear mixed model with a logit link. Results Ten eligible studies were identified (all in females), with a combined sample size of 9.57 million women and 673 Rett syndrome cases. The pooled prevalence estimate (random effects) was 7.1 per 100,000 females (95% CI: 4.8, 10.5, heterogeneity p < 0.001). Despite greatly variable precision of estimation, all estimates were compatible with a prevalence range of approximately 5 to 10 cases per 100,000 females based on their respective 95% CIs. Conclusion These findings may facilitate planning of therapeutic trials in this indication in terms of target sample size and accrual times. |
| Related Links | https://systematicreviewsjournal.biomedcentral.com/counter/pdf/10.1186/s13643-023-02169-6.pdf |
| Ending Page | 9 |
| Page Count | 9 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 20464053 |
| DOI | 10.1186/s13643-023-02169-6 |
| Journal | Systematic Reviews |
| Issue Number | 1 |
| Volume Number | 12 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2023-01-16 |
| Access Restriction | Open |
| Subject Keyword | Medicine Public Health Biomedicine Statistics for Life Sciences Health Sciences MECP2 Epidemiology Incidence Meta-analysis Neurodevelopmental disorders Prevalence Rare diseases Rett syndrome (RTT) Systematic literature review Medicine/Public Health |
| Content Type | Text |
| Resource Type | Article |
| Subject | Medicine |
| Journal Impact Factor | 6.3/2023 |
| 5-Year Journal Impact Factor | 4.5/2023 |
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