Family well-being in families with children and young people with wolf-hirschhorn syndrome

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dc.contributor.authorBel Fenellos, María Cristina
dc.contributor.authorBiencinto López, Chantal-María
dc.contributor.authorOrio Aparicio, Cristina
dc.contributor.authorSilva-Mori, Xana da
dc.contributor.authorJair Antonio Tenorio-Castano
dc.contributor.authorPablo Lapunzina
dc.contributor.authorJulian ´ Nevado
dc.date.accessioned2026-02-24T12:18:29Z
dc.date.available2026-02-24T12:18:29Z
dc.date.issued2025
dc.descriptionThis Project "PI18/01433" was funded by Instituto de Salud Carlos III and co-funded by European Union (ERDF, "A way to make Europe"). The authors declare that they have no conflict of interest. This work was partially funded by the following projects: PI; FIS18/01433 from the ISCIII (Ministry of Health of Spain, FEDER), and PI-2734 from FIBHULP. We would like to thank all families affected by WHS, with special recognition to the Spanish Association of Wolf-Hirschhorn Syndrome (AESWH) for their collaboration and support, as well as to their Medical Committee. Annex 1: Original items in Spanish, Emotional Well-being Area (Bienestar Emocional), 3. Mi familia cuenta con el apoyo necesario para aliviar el estr\u00E9s, 4. Los miembros de mi familia tienen amigos u otras personas que les brindan su apoyo, 9. Los miembros de mi familia disponen de alg\u00FAn tiempo para ellos, 13. Mi familia cuenta con ayuda externa para atender a las necesidades especiales de todos los miembros de la familia, Supports and Resources Area (Apoyos y Recursos), 22. El miembro de mi familia con necesidades especiales cuenta con el apoyo para progresar en la escuela o trabajo, 23. El miembro de mi familia con necesidades especiales cuenta con apoyo para progresar en el hogar, 24. El miembro de mi familia con necesidades especiales cuenta con apoyo para hacer amigos, 25. Las organizaciones que dan servicios al miembro con discapacidad de nuestra familia mantienen buenas relaciones con nosotros, Family Interaction Area (Interacci\u00F3n Familiar), 1. Mi familia disfruta pasando el tiempo junta, 7. Los miembros de mi familia se expresan abiertamente unos con otros, 10. Mi familia resuelve los problemas unida, 11. Los miembros de mi familia se apoyan unos a otros para alcanzar objetivos, 12. Los miembros de mi familia demuestran que se quieren y preocupan unos por otros, 18. Mi familia es capaz de hacer frente a los altibajos de la vida, Parental Role Area (Papel de los padres), 2. Los miembros de mi familia ayudan a la/s persona/s con discapacidad a aprender a ser independientes, 5. Los miembros de mi familia ayudan a la/s persona/s con discapacidad con sus tareas, 8. Los miembros de mi familia ense\u00F1an a la/s persona/s con discapacidad a llevarse bien con los dem\u00E1s, 14. Los adultos de mi familia ense\u00F1an a la/s persona/s con discapacidad a tomar decisiones adecuadas, 17. Los adultos de mi familia conocen a otras personas que forman parte de las vidas de la/s persona/s con discapacidad, como amigos, compa\u00F1eros, etc. 19. Los adultos de mi familia tienen tiempo para ocuparse de las necesidades individuales de la/s persona/s con discapacidad, Physical and Material Well-being Area (Bienestar F\u00EDsico y Material), 6. En mi comunidad contamos con medios de transporte para ir donde necesitamos, 15. Mi familia recibe asistencia m\u00E9dica cuando la necesita, 16. Mi familia puede hacerse cargo de nuestros gastos, 20. Mi familia recibe asistencia buco- dental cuando la necesita, 21. Mi familia se siente segura en casa, en el trabajo, en la escuela y en nuestro barrio, Annex 2: Planning Map of a Participating Family and Results Analysis. Referencias bibliográficas: • Alnahdi, G. H., Alwadei, A., Woltran, F., & Schwab, S. (2022). Measuring family quality of life: scoping review of the available scales and future directions. International Journal of Environmental Research and Public Health, 19(23), 15473. https://doi.org/10.3390/ijerph192315473 • Alnahdi, G. H., & Schwab, S. (2024). Families of children with intellectual and developmental disabilities: variables associated with family quality of life. Children, 11, 734. https://doi.org/10.3390/children11060734 • Balcells-Balcells, A., Gin´e, C., Gu ardia-Olmos, J., Summers, J. A., & Mas, J. M. (2019). 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dc.description.abstractBackground: Wolf-Hirschhorn Syndrome (WHS) is a rare genetic disorder characterized by intellectual and physical disabilities. Families with a child affected by WHS face unique challenges that impact their quality of life. Understanding Family Quality of Life (FQoL) is crucial to developing effective support strategies. Aim: The aim of this study was to evaluate FQoL in Spanish families with children diagnosed with WHS and to explore its relationship with sociodemographic factors and clinical characteristics, such as the size of genetic deletion. Methods: A descriptive, exploratory study was conducted with 34 parents of children with WHS, representing 50 % of the registered WHS families in Spain. The Family Quality of Life Survey (BCFQOL, 2003) was used to evaluate both satisfaction as importance regarding the five key dimensions of FQoL: emotional well-being, support and resources, family interaction, parental role, and physical/material well-being. Results: Families reported a higher importance than satisfaction in all dimensions of the FQoL. Family interaction received the highest satisfaction score (M = 4.09), while emotional well-being was the most affected (M = 3.02). No significant correlations were found between FQoL and genetic or sociodemographic variables. Only 27 % of the families expressed overall satisfaction with their FQoL, with stress relief and time availability being major concerns. Conclusions: Emotional well-being is the most affected dimension in families with WHS children. There is a need for tailored support programs focusing on emotional and stress relief interventions. Strengthening family interactions and external support systems is crucial for improving FQoL
dc.description.departmentDepto. de Investigación y Psicología en Educación
dc.description.facultyFac. de Educación
dc.description.refereedTRUE
dc.description.sponsorshipInstituto de Salud Carlos III (Spain)
dc.description.sponsorshipFederación Española de Enfermedades Raras
dc.description.sponsorshipEuropean Union
dc.description.sponsorshipMinisterio de Sanidad, Consumo y Bienestar Social (Spain)
dc.description.sponsorshipAESWH
dc.description.sponsorshipFIBHULP
dc.description.statuspub
dc.identifier.citationBel-Fenellós, C., Biencinto-López, C., Orio-Aparicio, C., da Silva-Mori, X., Tenorio-Castaño, J. A., Lapunzina, P., & Nevado, J. (2025). Family well-being in families with children and young people with Wolf-Hirschhorn Syndrome. Research in Developmental Disabilities, 160. https://doi.org/10.1016/J.RIDD.2025.104974
dc.identifier.doi10.1016/j.ridd.2025.104974
dc.identifier.essn1873-3379
dc.identifier.issn0891-4222
dc.identifier.officialurlhttps://doi.org/10.1016/j.ridd.2025.104974
dc.identifier.pmid40112494
dc.identifier.relatedurlhttps://produccioncientifica.ucm.es/documentos/6804ce23ffa972638d8cccd1
dc.identifier.relatedurlhttps://www.scopus.com/pages/publications/105000312636
dc.identifier.relatedurlhttps://www.webofscience.com/wos/alldb/full-record/WOS:001451400300001
dc.identifier.relatedurlhttps://www.sciencedirect.com/science/article/pii/S0891422225000587?via%3Dihub
dc.identifier.relatedurlhttps://www.sciencedirect.com/journal/research-in-developmental-disabilities
dc.identifier.urihttps://hdl.handle.net/20.500.14352/133038
dc.journal.titleResearch in Developmental Disabilities
dc.language.isoeng
dc.page.final14
dc.page.initial1
dc.publisherElsevier
dc.relation.projectIDinfo:eu-repo/grantAgreement/ISCIII/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016 (ISCIII)/PI18%2F01433/ES/EVALUACION GENOMICA EN EL S. DE WOLF-HIRSCHHORN; MICROARRAYS PERSONALIZADOS DE SNPS Y GENES CANDIDATOS: APROXIMACION A LAS ALTERACIONES DENTALES Y A UNA EPILEPSIA COMPLEJA/
dc.relation.projectIDPI-2734
dc.rightsAttribution 4.0 Internationalen
dc.rights.accessRightsopen access
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subject.cdu316.728
dc.subject.cdu37.064.1
dc.subject.cdu616-036.25
dc.subject.cdu616.89-008.44
dc.subject.cdu616.899
dc.subject.cdu371.3
dc.subject.cdu37.012
dc.subject.keywordCaregivers wolf-Hirschhorn syndrome
dc.subject.keywordFamily quality of life
dc.subject.keywordIntellectual disability
dc.subject.keywordRare diseases
dc.subject.ucmEducación
dc.subject.ucmEducación especial (Educación)
dc.subject.ucmTrastornos del aprendizaje
dc.subject.ucmMétodos de enseñanza
dc.subject.ucmMétodos de investigación en educación
dc.subject.unesco58 Pedagogía
dc.subject.unesco5899 Otras Especialidades Pedagógicas
dc.subject.unesco6310.03 Enfermedad
dc.subject.unesco5801 Teoría y Métodos Educativos
dc.titleFamily well-being in families with children and young people with wolf-hirschhorn syndrome
dc.typejournal article
dc.type.hasVersionVoR
dc.volume.number160
dspace.entity.typePublication
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relation.isAuthorOfPublication951b047d-b63d-4912-8e7a-b1f52ed5357e
relation.isAuthorOfPublicationd953ebc0-0f12-4475-9cf9-2d3c87a5247c
relation.isAuthorOfPublication.latestForDiscoveryc3f0e6ed-2527-4855-86a2-c86a58f8f8c1

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