Coping with Wolf-Hirschhorn syndrome: quality of life and psychosocial features of family carers
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(2020) 15:293
RESEARCH
Open Access
Coping with Wolf-Hirschhorn syndrome: quality of life and psychosocial features of family carers Sarah Berrocoso1* , Imanol Amayra1, Esther Lázaro1, Oscar Martínez1, Juan Francisco López-Paz1, Maitane García1, Manuel Pérez1, Mohammad Al-Rashaida1, Alicia Aurora Rodríguez1, Paula Maria Luna1, Paula Pérez-Núñez1, Raquel Blanco2 and Julián Nevado3
Abstract 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. Keywords: Wolf-Hirschhorn syndrome, 4p deletion, Caregivers, Quality of life, Coping, Depression, Social support, Spirituality
Background Wolf-Hirschhorn Syndrome (WHS; ONIM #194190, ORPHA #280) [1] is a congenital malformation disorder first described in 1961 [2]. It was later recognized in 1965 as the syndrome known today [3, 4]. WHS is a rare genetic condition whose incidence is estimated at 1 in 50,000 births [5] and is predominantly female 2:1 [6]. * Correspondence: [email protected] 1 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 Full list of author information is available at the end of the article
Some authors suspect that incidence may be higher, about 1 per 20,000 births [7, 8]. This syndrome is caused by a variable size deletion of the distal region of the short arm of chromosome 4 (4p16.3) and is therefore also known as 4p-syndrome [9]. It has a phenotype core characterized by distinctive craniofacial features (Greek warrior helmet-shaped face), pre and postnatal growth and psychomotor development retardation, seizures and intellectual disability. Other non-nuclear clinical manifestations may also coexist such as cardiological
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