Evidence map›Paper›PMID 34145661›Full record

ArticleJournal of genetic counseling2021

Explanatory models for the cause of Fragile X Syndrome in rural Cameroon.

Karen Kengne Kamga, Jantina De Vries, Séraphin Nguefack, Nchangwi Syntia Munung, Ambroise Wonkam

Open access · hybridAbstract read
In one paragraph

Article in Journal of genetic counseling, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.0field-weighted citation impact, top 21% 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

3 citing papers in PubMed, 6 citations in OpenAlex.

  1. Review
  2. Review
  3. 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

5 authors at 2 institutions in 2 countries.

Karen Kengne KamgaDivision of Human Genetics, Department of Pathology, University of Cape Town, Cape Town, South Africa.
Jantina De VriesDepartment of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Séraphin NguefackDepartment of Pediatrics, Faculty of Medicine and Biomedical Sciences, University of Yaoundé 1, Yaoundé, Cameroon.
Nchangwi Syntia MunungDivision of Human Genetics, Department of Pathology, University of Cape Town, Cape Town, South Africa.
Ambroise WonkamDivision of Human Genetics, Department of Pathology, University of Cape Town, Cape Town, South Africa.ORCID 0000-0003-1420-9051
University of Cape Town · ZAUniversité de Yaoundé I · CM

Funding

Sickle Africa Data Coordinating CenterU24HL135600 · NHLBI · UNIVERSITY OF CAPE TOWN · PI MULDER, NICOLA, WONKAM, AMBROISE · 2017 to 2025
$8.6M
Return of a Fragile X Syndrome genetic result: exploring the feedback of individual genetic findings and their relation to traditional knowledge in a village in Cameroon.U54HG009790 · NHGRI · UNIVERSITY OF CAPE TOWN · PI WONKAM, AMBROISE · 2017 to 2021
$2.5M
NHGRI NIH HHS U54 HG009790NHLBI NIH HHS U24 HL135600NIH HHS NIH U54HG009790
6 · The paper itself

Abstract

Among the myriad causes of intellectual disability (ID), Fragile X Syndrome (FXS) is the leading genetic cause. Yet, little is known of how people affected by this condition make sense of it. The present study aimed to investigate the explanatory models for the causes of FXS in an extended family mainly affected by this condition and members of the village from which they originated in Cameroon. Using an ethnographic approach, 92 participants were interviewed (59 females and 33 males) through 10 focus group discussions and 23 in-depth interviews between April 2018 and February 2020. Data analysis revealed four explanatory models regarding the etiologies of FXS in the community. Firstly, the curse model described a curse from the chief because of the belief that his wives did not mourn his intellectually disabled servant. Secondly, the spiritual model relates FXS to a punishment from God. Thirdly, the socioeconomic model attributes FXS to events in the prenatal and perinatal periods. Finally, the genetic model describes the pattern of inheritance of the disease in the family. This paper helps to understand the explanatory disease models that exist for FXS in rural Cameroon and could inform genetic counseling practices, community genetic education, and policymakers when drafting protocols for public engagement activities.

Indexed as

Fragile X SyndromeIntellectual DisabilityCameroonFemaleFragile X Messenger Ribonucleoprotein 1Genetic CounselingHumansMaleFragile X Messenger Ribonucleoprotein 1Camerooncausal beliefscommunityexplanatory modelFragile X Syndromegenetic counseling

Identifiers

PMID34145661
PMCPMC8642261
OpenAlexW3170378508

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.