Original ArticleLongevity in Rett Syndrome: Analysis of the North American Database
Section snippets
Methods
The IRSA mailed a structured survey to 2994 members in the United States (n = 2836) and Canada (n = 158) requesting specific information, including date of birth, date of death (if applicable), diagnosis (typical RTT, variant or atypical RTT, no RTT, or unknown), discipline of the diagnosing physician, mutation testing results (if performed) and testing laboratory; reason why diagnostic testing was not performed, and contact information (Appendix; available at www.jpeds.com). No response was
Results
The North American RTT Database comprises individuals who fulfill the criteria for typical or variant RTT or who do not meet these criteria but have a MECP2 mutation. The diagnosis of RTT is made by a pediatric neurologist, a developmental pediatrician, a geneticist, or a general pediatrician. Table 1 gives the number of participants and their distribution by diagnosis. This distribution was 85.5% typical RTT, 13.4% atypical RTT, and 1.1% with a MECP2 mutation but not fulfilling the criteria
Discussion
In this analysis, we examined patterns of RTT survival among individuals in North America born before 1960 to the present. From the most recent period to the earliest period, we found a general pattern of better survival with earlier decade of birth. Given that clinical management has improved considerably from the time when RTT was first recognized, improved survival among each successive cohort might be expected.
We speculate that the observed pattern may be linked to the increasing
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2023, Journal of Controlled ReleaseOutcome measurement instruments in Rett syndrome: A systematic review
2022, European Journal of Paediatric NeurologyCitation Excerpt :The average life expectancy depends on the symptoms’ onset age and severity, with almost all girls reaching the age of 10 years, and having a probability of over 50% of living up to 50 years if they receive constant health care [1–4]. This syndrome arises from mutations in the X linked gene encoding methyl-CpG-binding protein 2 (MECP2) [1–4]. The first classical RS symptoms usually appear at 6–18 months of age, with a gradual or sudden loss of previously acquired fine motor movements, together with the appearance of hand stereotypies (wringing, washing, or clapping) and the loss of expressive language skills.
Longitudinal cognitive rehabilitation applied with eye-tracker for patients with Rett Syndrome
2021, Research in Developmental DisabilitiesCitation Excerpt :For example, researchers from the Rett Syndrome Natural History Study presented longitudinal data across the United States of America aimed to characterize hand stereotypies in a large cohort of patients with RTT (Ferreira & Teive, 2020). Other longitudinal studies have described the aging process and longevity of RTT patients (Halbach et al., 2013; Kirby et al., 2010). In a longitudinal study, Woodyatt and Ozanne (1993) documented changes in the cognitive, communicative and interactive development of a group of six girls with RTT over a 3-year period.
Mutation spectrum in the gene encoding methyl-CpG-binding protein 2 in Egyptian patients with Rett syndrome
2020, Meta GeneCitation Excerpt :Patients, lacking one or more of the disorder major features, are identified as atypical or variant RTT cases which clustered into 5 distinct clinical subgroupings; congenital, early-onset seizure, preserved speech, late regression and forme fruste variants(Neul et al., 2010). This debilitating disorder displays several critical issues; 1- RTT is an early severe neurodevelopmental disorder that strongly affect the quality of patient life (Hagberg et al., 1983), 2- it is the second most common cause of mental retardation in females after Down syndrome with an estimated prevalence of one in 10,000 female births (Parisi et al., 2016), 3- the disease is overwhelmingly sporadic (99.5%) with no specified risk factors (Bienvenu et al., 2000), hence no strategies can be followed to limit the disease occurrence, 4- it is frequently misdiagnosed by primary care physicians delaying patient access to possible therapeutic strategies (Tarquinio et al., 2015), 5- up to date, there is no cure for RTT and currently available therapeutic interventions would force familial and societal economic burdens (Percy, 2016), 6- affected females may survive into middle age and beyond requiring long-term care (Kirby et al., 2010) and lastly, 7- RTT has a considerable negative impact on the entire family and it is advised to provide psychological support to parents and all family members (Parisi et al., 2016). About 20 years ago, mutations in the gene encoding methyl-CpG-binding protein 2 (MECP2; MIM# 300005) were reported to be the primary cause of RTT (Amir et al., 1999).
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2020, Neurodevelopmental Disorders: Comprehensive Developmental Neuroscience