Aim  Rett syndrome is a severe neurodevelopmental disorder that typically affects females. Little is known about the natural history and survival time of these females. Method  We compared the survival of all Austrian female participants from Rett’s historical cohort (1966) with that of affected females registered in the Australian Rett Syndrome Database. The analysis included both Kaplan–Meier analysis and a log‐rank test for equality of survivor functions. Results  Of females in the original Austrian group, three are still alive. The median age at death was 13 years 4.8 months. The probability of survival up to the age of 25 years was 21%, compared with 71% in the Australian cohort (p<0.001). We found no practical or statistically significant differences in survival between the various birth year groups within the Australian cohort. Interpretation  Our data indicate that survival of females with Rett syndrome has improved since the late 1960s but that there has been shown no change in survival over the last 30 years, possibly because the follow‐up time has been too short.

AIM This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and identified recommendations for assessment and management of gallbladder disease.METHOD The incidence of cholelithiasis/cholecystectomy was estimated from data describing 270 and 681 individuals with a pathogenic MECP2 mutation in the Australian Rett Syndrome Database and the International Rett Syndrome Phenotype Database respectively. Gallbladder function in 25 females (mean age 16y 5mo, SD 20y 7mo, range 3y 5mo-47y 10mo) with Rett syndrome (RTT) was evaluated with clinical assessment and ultrasound of the gallbladder. The Delphi technique was used to develop assessment and treatment recommendations. RESULTSThe incidence rate for cholelithiasis and/or cholecystectomy was 2.3 (95% confidence interval [CI] 1.1-4.2) and 1.8 (95% CI 1.0-3.0) per 1000 person-years in the Australian and International Databases respectively. The mean contractility index of the gallbladder for the clinical sample was 46.5% (SD 38.3%), smaller than for healthy individuals but similar to children with Down syndrome, despite no clinical symptoms. After excluding gastroesophageal reflux, gallbladder disease should be considered as a cause of abdominal pain in RTT and cholecystectomy recommended if symptomatic.INTERPRETATION Gallbladder disease is relatively common in RTT and should be considered in the differential diagnosis of abdominal pain in RTT.Rett syndrome (RTT) is a severe neurodevelopmental disorder caused by mutations in the X-linked methylCpG-binding-protein-2 (MECP2) gene.1 After a period of apparently normal early development, there is a period of regression including loss of purposeful hand use and/or language skills, and the development of distinctive hand stereotypies and impaired gait. There are also supportive criteria including poor growth, respiratory irregularities, and the development of scoliosis.2 Many factors contribute to poor growth in RTT including altered oropharyngeal dysfunction and reduced food intake, 3,4 and problems with gastroesophageal motility such as reflux and constipation. 5Dysmotility may result from absent primary or secondary intestinal waves and the presence of tertiary intestinal waves as observed during videofluoroscopy, with concurrent delayed gastric emptying and atony.3 In a recent questionnaire-based survey in the USA (n=983), feeding problems were reported in 81% and gastrointestinal problems in 92% of individuals with Rett syndrome. 6 Gastrointestinal dysfunction in RTT contributes to clinical severity and affects the daily lives of the females and their caregivers. 6In general, gallstones are rare in childhood and adolescence, with estimated prevalence between 0% and 2% in the small number of studies undertaken. [7][8][9][10][11][12] However, there appears to be a higher prevalence in particular populations of children, such as those with Down syndrome, with reported prevalences up to 25%. 13,14 Clinical studies in Down syndrome indi...

CMH supplementation increases global DNA methylation statistically significantly. Scores were lower for creatine than for placebo reflecting clinical improvement but not reaching statistical significance. Biochemical variables of methionine-homocysteine remethylation are unaffected. Multicenter studies are urgently warranted to evaluate the long-term effects of CMH supplementation in an optimally homogenous RTT population over a prolonged period.

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