Surveillance and prevalence of fragile X syndrome in Indonesia

Abstract

fragile X syndrome, intellectual disability, genetic screening, cascade testing Fragile X syndrome (FXS) is the most prevalent inherited cause of intellectual disability (ID) and autism spectrum disorder (ASD). Many studies have been conducted over the years, however, in Indonesia there is relatively less knowledge on the prevalence of FXS. We reviewed all studies involving FXS screening and cascade testing of the high-risk population in Indonesia for two decades, to elucidate the prevalence, as well as explore the presence of genetic clusters of FXS in Indonesia. The prevalence of FXS in the ID population of Indonesia ranged between 0.9-1.9%, while in the ASD population, the percentage was higher (6.15%). A screening and cascade testing conducted in a small village on Java Island showed a high prevalence of 45% in the ID population, suggesting a genetic cluster. The common ancestry of all affected individuals was suggestive of a founder effect in the region. Routine screening and subsequent cascade testing are essential, especially in cases of ID and ASD of unknown etiology in Indonesia.

Phenotypic variability to medication management: an update on fragile X syndrome

“…Among 237 Thai boys with a developmental delay of unknown cause in Southern Asia, 16 (6.8%) were found to have a full FMR1 mutation, and four were reported to have a premutation [ 41 ]. The prevalence of FXS in Indonesia ranged from 0.9% to 1.9% among the ID population and was higher (6.15%) among the ASD population [ 42 ]. In Malaysia, with 2108 children with developmental disabilities from mixed ethnicities, the FXS full mutation was reported as 70 (3.6%) in males and 3 (2.4%) in females [ 43 ].…”

Fragile X syndrome in children

“…Multiple genetic clusters have been described worldwide, including Indonesia 13 , Finland 14 , Cameroon 15 , and the island of Mallorca, in Spain 16 . However, in Ricaurte, a town located in Colombia, a geographic conglomerate with the highest prevalence in the world of alleles with triplet expansion has been described 17 .…”

“…Múltiples clusters genéticos se han descrito a lo largo del mundo, incluyendo Indonesia 13 , Finlandia 14 , Camerún 15 , y la isla de Mallorca, en España 16 . Sin embargo, en Ricaurte, un pueblo ubicado en Colombia, se describió el conglomerado geográfico con la mayor prevalencia en el mundo de alelos con expansión de tripletas 17 .…”