Global prevalence of Rett syndrome: systematic review and meta-analysis

Petriti, Uarda; Dudman, Daniel C; Scosyrev, Emil; López-Léon, Sandra

doi:10.1186/s13643-023-02169-6

Cited by 41 publications

(34 citation statements)

References 29 publications

(61 reference statements)

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“…Furthermore, the disproportionately high number of female patients with RAS is expected because of the pathology of RTT but limits our ability to comment on sex differences in outcome. In addition, although RTT is considered a panethnic condition, it is unknown whether RAS is more common in certain racial/ethnic groups 1 . It is also possible that racial differences in this surgical cohort are due to cultural and/or socioeconomic factors not evaluated in this study.…”

Section: Discussionmentioning

confidence: 94%

“…In addition, although RTT is considered a panethnic condition, it is unknown whether RAS is more common in certain racial/ethnic groups. 1 It is also possible that racial differences in this surgical cohort are due to cultural and/or socioeconomic factors not evaluated in this study. It is unlikely that the one-day difference in LOS between groups is clinically significant, although our multivariable analysis does suggest that nonmedical factors (insurance) contribute to this observation.…”

Section: Discussionmentioning

confidence: 97%

“…ett syndrome (RTT) is a rare, X-linked neurodevelopmental disorder affecting ~5 to 10 per 100,000 individuals in the United States. 1 RTT is caused by mutations in the methyl-CpG-binding protein on the X chromosome 2 and thus occurs predominantly in females. It is characterized by normal early development, followed by sudden, progressive neurodevelopmental regression and pathologic manifestations, including seizures, dystonias, cognitive and communication impairment, and neuromuscular scoliosis (NMS).…”

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confidence: 99%

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Rett Syndrome–Associated Scoliosis

Stone,

Kelly,

Alexander

et al. 2023

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Study Design. Retrospective database cohort study. Objective. To evaluate U.S. treatment trends and inpatient outcomes for children undergoing posterior spinal fusion (PSF) for Rett syndrome (RTT)-associated scoliosis (RAS). Summary of Background Data. RTT is a rare, sporadic neurodevelopmental disorder presenting in childhood with developmental regression, ataxia, and seizures. RAS occurs in 50-80% of cases of RTT, but little is known about the case volume and perioperative experience for children undergoing PSF. Methods. Using International Classification of Diseases (ICD)-9 and ICD-10 codes in the national Kids’ Inpatient Database, we identified children with RTT who underwent PSF in 2000-2019. Annual case volumes were analyzed. Clinical characteristics and outcomes were compared with those of a cohort of patients with neuromuscular scoliosis (NMS). Results. Among 220 patients with RAS, 216 (98.2%) were female (mean age at surgery 12.3±3.3 y). Surgical case incidence steadily increased over 19 years, with more RAS admissions in the South (31.4%). Overall, patients with RAS demonstrated a higher mean Elixhauser Comorbidity Index score (2 vs. 1, P<0.001) and had more perioperative complications (41.4% vs. 18%, P<0.001) than patients with NMS. RTT diagnosis independently predicted higher odds of any complications (OR 1.98, P<0.001) and increased length of stay (OR 1.18, P=0.009) for admissions for PSF. Conclusions. Surgical treatment for RAS is rare but increased over a 19-year period. Cases appear to be clustering by region, with the highest proportion in the South. The higher Elixhauser Comorbidity Index in RAS patients predicted higher cost, longer hospital stay, more complications (particularly respiratory), and more nonroutine discharge disposition than in other NMS patients. RTT was independently associated with higher odds of complications and longer length of stay. Because RAS cases appear to be increasing in number, future study should emphasize methods to reduce morbidity and investigate deformity-specific metrics to help better understand this population.

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Section: Discussionmentioning

confidence: 94%

Section: Discussionmentioning

confidence: 97%

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confidence: 99%

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Rett Syndrome–Associated Scoliosis

Stone,

Kelly,

Alexander

et al. 2023

Spine

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“…Thus, to be maximally relevant to our thesis, we re-evaluated these data only in the context of females. The prevalence of classical RS was, at most, one in 10,000 females [84], which corresponds to a maximum allele frequency of 0.00005 for a typical RS-causing MECP2 variant. The allele frequency of MECP2 p.Pro399Leu in gnomAD-analyzed females was 0.00006474 [65], which is ∼1.3-fold higher than 0.00005 (it should be remembered that the corresponding ratio for the “hypomorphic” PKD1 p.Arg3277Cys variant was ∼1.8).…”

Section: Resultsmentioning

confidence: 99%

Validation of the ACMG/AMP guidelines-based seven-category variant classification system

Chen

Masson

Zou

et al. 2023

Preprint

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Background:One shortcoming of employing the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP)-recommended five-category variant classification scheme (″pathogenic″, ″likely pathogenic″, ″uncertain significance″, ″likely benign″ and ″benign″) in medical genetics lies in the schemeprime or minutes inherent inability to deal properly with variants that fall midway between ″pathogenic″ and ″benign″. Employing chronic pancreatitis as a disease model, and focusing on the four most studied chronic pancreatitis-related genes, we recently expanded the five-category ACMG/AMP scheme into a seven-category variant classification system. With the addition of two new classificatory categories, ″predisposing″ and ″likely predisposing″, our seven-category system promises to provide improved classification for the entire spectrum of variants in any disease-causing gene. The applicability and practical utility of our seven-category variant classification system however remains to be demonstrated in other disease/gene contexts, and this has been the aim of the current analysis.Results:We have sought to demonstrate the potential universality of pathological variants that could be ascribed the new variant terminology (′predisposing′) by trialing it across three Mendelian disease contexts (i.e., autosomal dominant, autosomal recessive and X-linked). To this end, we firstly employed illustrative genes/variants characteristic of these three contexts. On the basis of our own knowledge and expertise, we identified a series of variants that fitted well with our ″predisposing″ category, including ″hypomorphic″ variants in thePKD1gene and ″variants of varying clinical consequence″ in theCFTRgene. These examples, followed by reasonable extrapolations, enabled us to infer the widespread occurrence of ″predisposing″ variants in disease-causing genes. Such ″predisposing″ variants are likely to contribute significantly to the complexity of human genetic disease and may account not only for a considerable proportion of the unexplained cases of monogenic and oligogenic disease but also for much of the ″missing heritability″ characteristic of complex disease.Conclusion:Employing an evidence-based approach together with reasonable extrapolations, we demonstrate both the applicability and utility of our seven-category variant classification system for disease-causing genes. The recognition of the new ″predisposing″ category not only has immediate implications for variant detection and interpretation but should also have important consequences for reproductive genetic counseling.

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“…Rett Syndrome (RTT) is a rare neurodevelopmental disorder that affects brain function and development in approximately 7.1 per 100,000 females globally [1]. After an apparently typical development, patients with classic RTT present with regression of acquired developmental skills at 1-3 years of age.…”

Section: Introductionmentioning

confidence: 99%

Rett Syndrome in Ireland: A demographic study

Zade

Campbell

Bach

et al. 2023

Preprint

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Rett syndrome (RTT) is a rare neuropsychiatric condition associated to mutations in the gene coding for the methyl-CpG- binding protein 2 (MECP2). It is primarily observed in girls and affects individuals globally. The understanding of the neurobiology of RTT and patient management has been improved by studies that describe the demographic and clinical presentation of patients with RTT. However, in Ireland, there is a scarcity of data regarding patients with RTT, which impedes the ability to fully characterize the Irish RTT population. Together with the Rett syndrome association of Ireland (RSAI), we prepared a questionnaire to determine the characteristics of RTT patients in Ireland. Twenty families participated to the study to date, providing information about demographics, genetics, familial history, clinical features, and regression. The main finding of this study is the limited number of genetic tests conducted to support the clinical diagnosis of RTT. The results shows that Irish patients with RTT have comparable presentation with respect to patients in other countries, however, they had a better response to anti-epileptic drugs and fewer skeletal deformities were reported. Nonetheless, seizures, involuntary movements and regression were more frequently observed in Irish patients. Despite the limited sample size, this study is the first to characterise the RTT population in Ireland and highlights the importance of genetic testing for patients with RTT in order to sharpen the characterization of the phenotype and increase the visibility of Irish patients in the international RTT community.

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Global prevalence of Rett syndrome: systematic review and meta-analysis

Cited by 41 publications

References 29 publications

Rett Syndrome–Associated Scoliosis

Rett Syndrome–Associated Scoliosis

Validation of the ACMG/AMP guidelines-based seven-category variant classification system

Rett Syndrome in Ireland: A demographic study

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