Evidence map›Paper›PMID 33614370›Full record

ReviewIntractable & rare diseases research2021

Surveillance and prevalence of fragile X syndrome in Indonesia.

Nydia Rena Benita Sihombing, Tri Indah Winarni, Agustini Utari, Hans van Bokhoven, Randi J Hagerman, Sultana Mh Faradz

Open access · diamondAbstract readReview
In one paragraph

Review in Intractable & rare diseases research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.7field-weighted citation impact, top 27% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 7 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Review
  5. Fragile X Syndrome in children.Colombia medica (Cali, Colombia)
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 2 institutions in 2 countries.

Nydia Rena Benita SihombingDivision of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University/Diponegoro National Hospital, Semarang, Indonesia.
Tri Indah WinarniDivision of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University/Diponegoro National Hospital, Semarang, Indonesia.
Agustini UtariDivision of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University/Diponegoro National Hospital, Semarang, Indonesia.
Hans van BokhovenDepartment of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Randi J HagermanMIND Institute, UC Davis Health, University of California, Davis, California, USA.
Sultana Mh FaradzDivision of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University/Diponegoro National Hospital, Semarang, Indonesia.
Diponegoro University · IDRadboud University Medical Center · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

cascade testingfragile X syndromegenetic screeningintellectual disability

Identifiers

PMID33614370
PMCPMC7882090
OpenAlexW3118448034

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.