Lived Experiences of Fragile X Syndrome Caregivers: A Scoping Review of Qualitative Studies.

care givers fragile X syndrome lived experience qualitative research scoping review

Journal

Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899

Informations de publication

Date de publication:
2020
Historique:
received: 24 12 2019
accepted: 05 02 2020
entrez: 17 3 2020
pubmed: 17 3 2020
medline: 17 3 2020
Statut: epublish

Résumé

Fragile X Syndrome (FXS) is the most common x-linked monogenic cause of Intellectual Disability (ID) and Autism Spectrum Disorder (ASD). Taking care of children with ID is challenging and overwhelming due to the multiple facets of caregiving. This scoping review aimed at summarizing the qualitative literature on the experiences of families living with FXS, identify key themes and determine the gaps in the extant literature. We conducted a literature search in May 2019 using four databases; PubMed, Web of Science, African-Wide-Information, and Scopus. The keywords used in our search strategy were associated with caregivers, lived experiences, FXS, and qualitative research. All English language articles with full-text reporting were included. Studies associated with other neurodevelopmental conditions and quantitative studies were excluded. We identified 12 out of 203 articles that described the lived experiences of families with FXS. Most articles originated from the United States of America and mothers were the main caregivers. We summarized our findings into four major themes which are; grief experiences, challenges of living with FXS, coping mechanisms and the need to plan for future outcomes. This scoping review highlights the scarcity of qualitative FXS literature in the African population and frustrations endured by families with FXS due to the low knowledge of FXS by healthcare workers. More research is needed to evaluate the impact of living with FXS in males and fathers.

Identifiants

pubmed: 32174884
doi: 10.3389/fneur.2020.00128
pmc: PMC7056838
doi:

Types de publication

Journal Article Review

Langues

eng

Pagination

128

Subventions

Organisme : NHLBI NIH HHS
ID : U24 HL135600
Pays : United States
Organisme : NHGRI NIH HHS
ID : U54 HG009790
Pays : United States

Informations de copyright

Copyright © 2020 Kamga, De Vries, Nguefack, Munung and Wonkam.

Références

J Genet Couns. 2012 Dec;21(6):845-53
pubmed: 22134579
Am J Med Genet A. 2008 Mar 15;146A(6):720-9
pubmed: 18266246
Int J Qual Stud Health Well-being. 2016 Apr 20;11:29512
pubmed: 27104339
Sci Rep. 2019 Oct 29;9(1):15456
pubmed: 31664061
Psychol Aging. 2003 Jun;18(2):250-67
pubmed: 12825775
Am J Speech Lang Pathol. 2006 Nov;15(4):353-64
pubmed: 17102146
Behav Neurol. 2019 Dec 3;2019:5202808
pubmed: 31885726
J Community Genet. 2013 Jul;4(3):413-23
pubmed: 22711384
Brain Sci. 2019 Jan 23;9(2):
pubmed: 30678024
Child Care Health Dev. 2009 Mar;35(2):250-6
pubmed: 19228158
J Intellect Dev Disabil. 2019;44(4):481-491
pubmed: 31896952
J Genet Couns. 2017 Dec;26(6):1333-1340
pubmed: 28536925
Intellect Dev Disabil. 2010 Apr;48(2):99-111
pubmed: 20597744
Implement Sci. 2010 Sep 20;5:69
pubmed: 20854677
J Community Genet. 2011 Mar;2(1):33-42
pubmed: 22109722
J Intellect Disabil Res. 1999 Aug;43 ( Pt 4):314-24
pubmed: 10466870
Am J Med Genet A. 2012 Jan;158A(1):1-9
pubmed: 22106023
J Autism Dev Disord. 2019 Mar 16;:
pubmed: 30879259
Am J Ment Retard. 2008 May;113(3):159-77
pubmed: 18407719
Eur J Med Genet. 2011 Jul-Aug;54(4):e399-404
pubmed: 21473937
Ann Hum Genet. 2012 Mar;76(2):178-91
pubmed: 22188182
Hum Reprod. 2016 Mar;31(3):498-501
pubmed: 26759142
Am J Med Genet. 1999 Apr 2;83(4):248-52
pubmed: 10208156
J Korean Med Sci. 2008 Jun;23(3):470-6
pubmed: 18583885
Ment Retard. 2005 Aug;43(4):255-67
pubmed: 16000026
Front Neurol. 2017 Jun 06;8:254
pubmed: 28634468
Am J Med Genet A. 2014 Jul;164A(7):1648-58
pubmed: 24700618
Evid Based Nurs. 2012 Oct;15(4):101
pubmed: 23002176
S Afr Med J. 2013 Oct 11;103(12 Suppl 1):994-8
pubmed: 24300646
J Dev Behav Pediatr. 2012 Nov-Dec;33(9):705-12
pubmed: 23117595
Mol Genet Genomic Med. 2017 Nov;5(6):758-773
pubmed: 29178638

Auteurs

Karen Kengne Kamga (KK)

Division of Human Genetics, Department of Pathology, University of Cape Town, Cape Town, South Africa.

Jantina De Vries (J)

Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.

Seraphin Nguefack (S)

Department of Pediatrics, Faculty of Medicine and Biomedical Sciences, University of Yaoundé 1, Yaoundé, Cameroon.

Syntia Nchangwi Munung (SN)

Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.

Ambroise Wonkam (A)

Division of Human Genetics, Department of Pathology, University of Cape Town, Cape Town, South Africa.
Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.

Classifications MeSH