Surveillance and prevalence of fragile X syndrome in Indonesia.
Intractable Rare Dis Res
; 10(1): 11-16, 2021 Feb.
Article
en En
| MEDLINE
| ID: mdl-33614370
ABSTRACT
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Tipo de estudio:
Prevalence_studies
/
Risk_factors_studies
/
Screening_studies
Idioma:
En
Revista:
Intractable Rare Dis Res
Año:
2021
Tipo del documento:
Article
País de afiliación:
Indonesia