Epidemiology of Rett Syndrome in Serbia: Prevalence, Incidence and Survival

Abstract

Background: Rett syndrome (RTT) is a severe neurodevelopmental disorder that represents the second most common cause of mental retardation in females. However, incidence and prevalence of RTT are scarcely reported. Methods: A retrospective study included all patients with RTT diagnosed between 1981 and 2012 in Serbia. Estimation of incidence and prevalence was calculated on the basis of vital statistics reported by Statistical Office of Republic of Serbia. Results: From 1981 to 2012, RTT hasbeen diagnosed in 102 girls in Serbia. Incidence of RTT in Serbia is estimated at 0.586:10,000 female live births. We estimated the prevalence of RTT in population of females younger than 19 years at 1:8,439. Death occurred in 19 patients (18.63%), with pneumonia as the most common cause. The lethal outcome by the age of 12 years could be expected for 11% of patients. The mean age at diagnosis was 3.5 years and we have confirmed a significant trend towards earlier dianosis during studied period. Conclusions: Rett syndrome incidence in Serbia is in accordance with reports from other countries. Serbian RTT patients have increased risk for early death when compared to patients in more developed countries, most commonly due to pneumonia. There was significant trend towards early diagnosis of RTT in Serbia over recent decades.

The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders

“…A recent population-based study of the 102 patients diagnosed with RTT in Serbia also found the leading cause of death among the 19 patients who died to be pneumonia. 28 This cohort was relatively young, the oldest being 31 years old, and their incidence of 0.59:10,000 female live births is lower than that of larger studies, suggesting that many patients remain undiagnosed in that country. 29,30 With up to 20 years of follow-up data, the Australian cohort remains the most robust sample from a longitudinal standpoint.…”

Respiratory morbidity in Rett syndrome: an observational study

“…In a population‐based study of Rett syndrome in Australia ( n =396) with follow‐up over 20 years, respiratory‐related causes were responsible for more than 80% of the 57 deaths with a known cause recorded as lower respiratory tract infection (LRTI) (36%, 21 out of 57), aspiration/asphyxiation (31%, 18 out of 57), and respiratory failure (14%, 8 out of 57) . A recent study of Rett syndrome in Serbia ( n =102) also found that pneumonia was the main cause of death (11 out of 19) over a 30‐year period . Pneumonia was the main reason for hospitalization in a Dutch study of 37 adult females with Rett syndrome followed over 5 years …”

“…4 A recent study of Rett syndrome in Serbia (n=102) also found that pneumonia was the main cause of death (11 out of 19) over a 30-year period. 5 Pneumonia was the main reason for hospitalization in a Dutch study of 37 adult females with Rett syndrome followed over 5 years. 6 Pulmonary pathology per se has had little specific investigation in Rett syndrome.…”

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

“…Four studies had an objective of estimating the prevalence of RTT: Bienvenu et al from France, Sarajlija et al from Serbia, Wong et al from China, and Fehr et al from Australia [ 13 , 17 , 21 , 22 ]. Six studies had a broader diagnosis surveyed but presented stratifications of which RTT was a category [ 14 – 16 , 18 – 20 ].…”