Evidence map›Paper›PMID 39295073›Full record

ArticleClinical genetics2025

Knowledge and perceptions about fragile X syndrome and fragile X-premutation-associated conditions among medical doctors in Nigeria.

Chioma N P Mbachu, Randi Hagerman, Edwin Eseigbe, Amalachukwu Odita, Ikechukwu Mbachu, Samuel Ilikanu, Kasarachi Akowundu, Chizalu Ndukwu, Malachy Echezona, Onyedikachi Okereke and 2 more

Abstract read
In one paragraph

Article in Clinical genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Article
  2. Article
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

12 authors.

Chioma N P MbachuDepartment of Paediatrics, Faculty of Medicine, College of Health Sciences, Nnamdi Azikiwe University, Nnewi Campus, Nnewi, Anambra, Nigeria.
Randi HagermanUniversity of California Davis MIND Institute, Sacramento, California, USA.
Edwin EseigbeDepartment of Paediatrics, Benue State University and Teaching Hospital, Makurdi, Nigeria.
Amalachukwu OditaDepartment of Paediatrics, Faculty of Medicine, College of Health Sciences, Nnamdi Azikiwe University, Nnewi Campus, Nnewi, Anambra, Nigeria.
Ikechukwu MbachuDepartment of Obstetrics, Faculty of Medicine, College of Health Sciences, Nnamdi Azikiwe University, Nnewi Campus, Nnewi, Nigeria.
Samuel IlikanuDepartment of Obstetrics and Gynaecology, Federal Medical Centre, Asaba, Nigeria.
Kasarachi AkowunduDepartment of Paediatrics, Lagos University Teaching Hospital, Idi Araba, Nigeria.
Chizalu NdukwuDepartment of Paediatrics, Faculty of Medicine, College of Health Sciences, Nnamdi Azikiwe University, Nnewi Campus, Nnewi, Anambra, Nigeria.
Malachy EchezonaDepartment of Medicine, Faculty of Medicine, College of Health Sciences, Nnamdi Azikiwe University, Nnewi Campus, Nnewi, Nigeria.
Onyedikachi OkerekeDepartment of Surgery, Nuffield Health Ipswich Hospital, Ipswich, UK.
Sylvia EchenduDepartment of Paediatrics, Faculty of Medicine, College of Health Sciences, Nnamdi Azikiwe University, Nnewi Campus, Nnewi, Anambra, Nigeria.
Ifeoma UdigweDepartment of Community Medicine, Faculty of Medicine, College of Health Sciences, Nnamdi Azikiwe University, Nnewi campus, Nnewi, Nigeria.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fragile X syndrome (FXS) is a significant cause of intellectual disability and autism, while Fragile X Premutation -Associated Conditions (FXPAC) are a significant cause of morbidity and mortality globally. This study assessed the level of knowledge and perceptions about FXS and FXPAC among doctors in Nigeria. It was a web-based, cross-sectional study conducted among a cohort of doctors in Nigeria. Socio-demographic profile, knowledge of FXS, perceptions about FXS, knowledge of FXPAC, experience of doctors, and suggested ways of improving knowledge and management of FXS were obtained. Data were analyzed using STATA 16.0. Chi-square and Fisher's exact tests of association were used to determine the association between variables, with the significance level set at p < 0.05. A total of 274 doctors participated in the study. A significant proportion of respondents had limited knowledge about the clinical features of FXS. Nine of ten (90.0%) participants with good knowledge of FXS had good perceptions of FXS management. This was statistically significant (p < 0.001). There was a high nonresponse rate to what FXPAC is (164/274, 59.9%) among the respondents because of insufficient knowledge. Suboptimal knowledge of FXS which influenced perception was noted among doctors. More strategies should be considered to improve doctors' knowledge and management of FXS and FXPAC in Nigeria.

Indexed as

Fragile X SyndromeHealth Knowledge, Attitudes, PracticePhysiciansAdultCross-Sectional StudiesFemaleFragile X Messenger Ribonucleoprotein 1HumansMaleMiddle AgedNigeriaPerceptionSurveys and QuestionnairesFragile X Messenger Ribonucleoprotein 1doctorsexperiencefragile X knowledgeFXS and FXPACNigeriaperception

Identifiers

PMID39295073
PMCPMC11608841

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.