Coping with Wolf-Hirschhorn syndrome: quality of life and psychosocial features of family carers.

4p deletion Caregivers Coping Depression Quality of life Social support Spirituality Wolf-Hirschhorn syndrome

Journal

Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602

Informations de publication

Date de publication:
19 10 2020
Historique:
received: 06 11 2019
accepted: 21 07 2020
entrez: 20 10 2020
pubmed: 21 10 2020
medline: 22 6 2021
Statut: epublish

Résumé

Wolf-Hirschhorn Syndrome (WHS) is a rare, congenital disease characterized by a distinctive facial phenotype, seizures, intellectual disability and developmental delay, and pre and postnatal growth requiring lifelong care. The psychosocial status of the family caregivers of children diagnosed with WHS is unknown. This study aims to characterize the sociodemographic and psychosocial profile of WHS caregivers and analyze how these variables impact their quality of life (QoL) and well-being. The sociodemographic and clinical profile of 22 Spanish caregivers of children with WHS and the characteristics of those affected have been described. Significant relationships were found between sociodemographic and psychosocial characteristics among caregivers. The impact on the parents' QoL and negative relationship with the symptomatology were assessed. The use of engagement strategies such as problem focused coping was associated with improved psychological QoL and social support. WHS caregivers share similarities in their profile and needs with caregivers of children with other rare diseases. Pychosocial support groups involving parents caring for children with the same disease could improve caregivers' well-being and QoL by strengthening their social support network and using positive coping styles.

Sections du résumé

BACKGROUND
Wolf-Hirschhorn Syndrome (WHS) is a rare, congenital disease characterized by a distinctive facial phenotype, seizures, intellectual disability and developmental delay, and pre and postnatal growth requiring lifelong care. The psychosocial status of the family caregivers of children diagnosed with WHS is unknown. This study aims to characterize the sociodemographic and psychosocial profile of WHS caregivers and analyze how these variables impact their quality of life (QoL) and well-being.
RESULTS
The sociodemographic and clinical profile of 22 Spanish caregivers of children with WHS and the characteristics of those affected have been described. Significant relationships were found between sociodemographic and psychosocial characteristics among caregivers. The impact on the parents' QoL and negative relationship with the symptomatology were assessed. The use of engagement strategies such as problem focused coping was associated with improved psychological QoL and social support.
CONCLUSIONS
WHS caregivers share similarities in their profile and needs with caregivers of children with other rare diseases. Pychosocial support groups involving parents caring for children with the same disease could improve caregivers' well-being and QoL by strengthening their social support network and using positive coping styles.

Identifiants

pubmed: 33076957
doi: 10.1186/s13023-020-01476-8
pii: 10.1186/s13023-020-01476-8
pmc: PMC7574588
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

293

Références

J Child Psychol Psychiatry. 1998 Jan;39(1):29-46
pubmed: 9534085
Mol Genet Metab Rep. 2019 Feb 14;19:100459
pubmed: 30815361
Epilepsy Behav. 2002 Apr;3(2):147-157
pubmed: 12609416
Epilepsy Behav. 2018 Mar;80:152-156
pubmed: 29414545
Indian J Palliat Care. 2018 Apr-Jun;24(2):189-195
pubmed: 29736124
Aten Primaria. 2018 Aug - Sep;50(7):443-444
pubmed: 29551262
Am J Med Genet A. 2020 Jan;182(1):257-267
pubmed: 31769173
Health Qual Life Outcomes. 2013 Sep 19;11:158
pubmed: 24050652
Psychol Med. 1998 May;28(3):551-8
pubmed: 9626712
J Med Genet. 2008 Feb;45(2):71-80
pubmed: 17873117
Epilepsy Behav. 2017 Sep;74:81-86
pubmed: 28732259
BMC Pediatr. 2015 Feb 13;15:7
pubmed: 25886474
Electron Physician. 2017 Sep 25;9(9):5380-5387
pubmed: 29038725
Epilepsy Behav. 2017 May;70(Pt A):104-109
pubmed: 28431364
J Gerontol B Psychol Sci Soc Sci. 2003 Mar;58(2):P112-28
pubmed: 12646594
J Family Med Prim Care. 2016 Apr-Jun;5(2):343-348
pubmed: 27843839
Hum Mol Genet. 1997 Feb;6(2):317-24
pubmed: 9063753
PLoS One. 2018 Mar 26;13(3):e0194655
pubmed: 29579119
Disabil Health J. 2015 Oct;8(4):475-91
pubmed: 25959710
Humangenetik. 1965;1(5):397-413
pubmed: 5868696
J Rural Health. 2018 Jun;34(3):263-274
pubmed: 28940539
Epilepsy Behav. 2017 Sep;74:135-143
pubmed: 28734197
Am J Intellect Dev Disabil. 2012 Mar;117(2):167-79
pubmed: 22515830
Orphanet J Rare Dis. 2019 Aug 9;14(1):194
pubmed: 31399110
J Natl Med Assoc. 2006 May;98(5):727-36
pubmed: 16749648
Sci Rep. 2018 Jul 25;8(1):11180
pubmed: 30046118
Biopsychosoc Med. 2018 Dec 12;12:20
pubmed: 30559833
J Clin Psychol Med Settings. 2014 Dec;21(4):320-8
pubmed: 25228103
Am J Med Genet C Semin Med Genet. 2008 Nov 15;148C(4):246-51
pubmed: 18932224
Adv Pediatr. 2001;48:75-113
pubmed: 11480768
Health Qual Life Outcomes. 2015 Apr 01;13:41
pubmed: 25889100
J Pers Soc Psychol. 1989 Feb;56(2):267-83
pubmed: 2926629
An Pediatr (Engl Ed). 2019 Jan;90(1):42-50
pubmed: 29853433
Actas Esp Psiquiatr. 2007 Jan-Feb;35(1):29-39
pubmed: 17323223
Gerontologist. 1980 Dec;20(6):649-55
pubmed: 7203086
Lang Speech Hear Serv Sch. 2010 Jul;41(3):265-76
pubmed: 20421614
Qual Life Res. 2012 Feb;21(1):161-5
pubmed: 21611868
Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):216-23
pubmed: 26239400
Health Psychol Open. 2018 Nov 09;5(2):2055102918810659
pubmed: 30450216
Int J Nurs Sci. 2019 Mar 08;6(2):148-153
pubmed: 31406884
Child Care Health Dev. 2019 Jan;45(1):96-103
pubmed: 30370696
Ci Ji Yi Xue Za Zhi. 2019 Jun 06;32(2):181-185
pubmed: 32269952
Span J Psychol. 2014 Dec 15;17:E86
pubmed: 26055393
J Appl Gerontol. 2013 Dec;32(8):1015-29
pubmed: 25474826
Am J Med Genet C Semin Med Genet. 2008 Nov 15;148C(4):257-69
pubmed: 18932124
Eur J Hum Genet. 2011 Apr;19(4):
pubmed: 21150881
Clin Rehabil. 2006 Aug;20(8):709-23
pubmed: 16944828
J Pediatr Rehabil Med. 2016;9(1):65-72
pubmed: 26966802
J Med Genet. 2001 Oct;38(10):674-9
pubmed: 11584045
Acta Neurol Scand. 2009 Nov;120(5):335-41
pubmed: 19456304
Indian J Pediatr. 2015 Nov;82(11):1006-11
pubmed: 25976615
Am J Med Genet C Semin Med Genet. 2008 Nov 15;148C(4):252-6
pubmed: 18932225
Am J Med Genet C Semin Med Genet. 2010 Nov 15;154C(4):417-26
pubmed: 20981770
BMC Fam Pract. 2016 Jul 21;17:88
pubmed: 27439905
J Pediatr Nurs. 2014 Jan-Feb;29(1):29-38
pubmed: 23999065
Humangenetik. 1965;1(5):479-82
pubmed: 5895684
Eur J Health Econ. 2016 Apr;17 Suppl 1:19-29
pubmed: 27038625
J Autism Dev Disord. 2011 Sep;41(9):1214-27
pubmed: 21103917
Orphanet J Rare Dis. 2017 Apr 11;12(1):68
pubmed: 28399928
Rev Neurol. 2013 Jul 16;57(2):49-56
pubmed: 23836334
Eur J Med Genet. 2017 Nov;60(11):610-617
pubmed: 28818479
Soc Sci Med. 2006 Mar;62(6):1486-97
pubmed: 16168541
Rev Neurol. 2017 May 1;64(9):393-400
pubmed: 28444681
Soc Psychiatry Psychiatr Epidemiol. 1998 Sep;33(9):405-12
pubmed: 9766166
BMC Pediatr. 2019 Jul 1;19(1):215
pubmed: 31262261
Front Psychiatry. 2016 Jul 25;7:127
pubmed: 27504099
J Neurol. 2016 May;263(5):906-915
pubmed: 26964543
Rev Paul Pediatr. 2015 Jul-Sep;33(3):268-74
pubmed: 26137868
Orphanet J Rare Dis. 2016 May 26;11(1):70
pubmed: 27225337
Schizophr Res. 2015 May;164(1-3):273-4
pubmed: 25823401
J Adv Nurs. 2006 Feb;53(4):392-402
pubmed: 16448482

Auteurs

Sarah Berrocoso (S)

Facultad de Psicología y Educación, Neuro-e-Motion, Investigación sobre aspectos Neuropsicológicos y Psicosociales de las Enfermedades Raras, Universidad de Deusto, Avda. Universidades 24, 48007, Bilbao, Spain. sarah.berrocoso@deusto.es.

Imanol Amayra (I)

Facultad de Psicología y Educación, Neuro-e-Motion, Investigación sobre aspectos Neuropsicológicos y Psicosociales de las Enfermedades Raras, Universidad de Deusto, Avda. Universidades 24, 48007, Bilbao, Spain.

Esther Lázaro (E)

Facultad de Psicología y Educación, Neuro-e-Motion, Investigación sobre aspectos Neuropsicológicos y Psicosociales de las Enfermedades Raras, Universidad de Deusto, Avda. Universidades 24, 48007, Bilbao, Spain.

Oscar Martínez (O)

Facultad de Psicología y Educación, Neuro-e-Motion, Investigación sobre aspectos Neuropsicológicos y Psicosociales de las Enfermedades Raras, Universidad de Deusto, Avda. Universidades 24, 48007, Bilbao, Spain.

Juan Francisco López-Paz (JF)

Facultad de Psicología y Educación, Neuro-e-Motion, Investigación sobre aspectos Neuropsicológicos y Psicosociales de las Enfermedades Raras, Universidad de Deusto, Avda. Universidades 24, 48007, Bilbao, Spain.

Maitane García (M)

Facultad de Psicología y Educación, Neuro-e-Motion, Investigación sobre aspectos Neuropsicológicos y Psicosociales de las Enfermedades Raras, Universidad de Deusto, Avda. Universidades 24, 48007, Bilbao, Spain.

Manuel Pérez (M)

Facultad de Psicología y Educación, Neuro-e-Motion, Investigación sobre aspectos Neuropsicológicos y Psicosociales de las Enfermedades Raras, Universidad de Deusto, Avda. Universidades 24, 48007, Bilbao, Spain.

Mohammad Al-Rashaida (M)

Facultad de Psicología y Educación, Neuro-e-Motion, Investigación sobre aspectos Neuropsicológicos y Psicosociales de las Enfermedades Raras, Universidad de Deusto, Avda. Universidades 24, 48007, Bilbao, Spain.

Alicia Aurora Rodríguez (AA)

Facultad de Psicología y Educación, Neuro-e-Motion, Investigación sobre aspectos Neuropsicológicos y Psicosociales de las Enfermedades Raras, Universidad de Deusto, Avda. Universidades 24, 48007, Bilbao, Spain.

Paula Maria Luna (PM)

Facultad de Psicología y Educación, Neuro-e-Motion, Investigación sobre aspectos Neuropsicológicos y Psicosociales de las Enfermedades Raras, Universidad de Deusto, Avda. Universidades 24, 48007, Bilbao, Spain.

Paula Pérez-Núñez (P)

Facultad de Psicología y Educación, Neuro-e-Motion, Investigación sobre aspectos Neuropsicológicos y Psicosociales de las Enfermedades Raras, Universidad de Deusto, Avda. Universidades 24, 48007, Bilbao, Spain.

Raquel Blanco (R)

Hospital Universitario Central de Asturias, Neurología Pediátrica, Oviedo, Spain.

Julián Nevado (J)

INGEMM Hospital Universitario La Paz Madrid, Instituto de Genética Médica y Molecular; CIBERER, Madrid, Spain.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female
Humans United States Aged Cross-Sectional Studies Medicare Part C
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH