Revisión Sistemática Sobre el Funcionamiento Familiar en Familias con un Hijo con una Enfermedad Poco Frecuente

  1. Florencia Assalone
  2. Javiera Ortega
  3. Natalia Vázquez
  4. Victoria Vázquez
Revue:
Papeles del psicólogo

ISSN: 0214-7823,  1886-1415

Année de publication: 2024

Titre de la publication: Unidades de análisis y diseño del comportamiento en organizaciones supranacionales

Volumen: 45

Número: 1

Pages: 39-47

Type: Article

DIALNET GOOGLE SCHOLAR lock_openAccès ouvert editor

D'autres publications dans: Papeles del psicólogo

Résumé

El presente estudio es una revisión sistemática de las investigaciones realizadas sobre el funcionamiento familiar en familias con niños con una enfermedad poco frecuente. La búsqueda se realizó en las bases de datos Pubmed, EBSCO y Google Académico, siguiendo los lineamientos PRISMA. Luego de aplicar los criterios de inclusión y exclusión a los artículos 460 encontrados inicialmente, un total de 55 artículos conformaron la muestra final. A partir del análisis de los resultados se establecieron las siguientes temáticas abordadas en relación al funcionameinto familiar: impacto del diagnóstico; función y responsabilidades del cuidador; funcionamiento familiar; impacto en la esfera emocional; efectos en la vida conyugal y social; estrategias de afrontamiento; familia, cuidados y sistema de salud. Los hallazgos de este estudio pueden proporcionar una justificación para considerar los factores asociados al funcionamiento familiar al momento de dar el diagnóstico de una EPOF y pensar un tratamiento.

Références bibliographiques

  • Baiocco, R., Castelli Gattinara, P., Cioccetti, G., & Ioverno, S. (2017). Parents’ Reactions to the Diagnosis of Duchenne Muscular Dystrophy: Associations Between Resolution, Family Functioning, and Child Behavior Problems. Journal of Nursing Research, 25(6), 455-463. https://doi.org/10.1097/JNR.0000000000000186
  • Baumbusch, J., Mayer, S., & Sloan-Yip, I. (2019). Alone in a Crowd? Parents of Children with Rare Diseases’ Experiences of Navigating the Healthcare System. Journal of Genetic Counseling, 28(1), 80-90. https:// doi.org/10.1007/s10897-018-0294-9
  • Boettcher, J., Denecke, J., Barkmann, C., & Wiegand-Grefe, S. (2020). Quality of life and mental health in mothers and fathers caring for children and adolescents with rare diseases requiring long-term mechanical ventilation. International journal of environmental research and public health, 17(23), 8975. https://doi.org/10.3390/ijerph17238975
  • Boettcher, J., Zapf, H., Fuerboeter, M., Nazarian, R., Reinshagen, K., Wiegand-Grefe, S., & Boettcher, M. (2021). Perceived mental health in parents of children with rare congenital surgical diseases: a double ABCX model considering gender. Orphanet Journal of Rare Diseases, 16(1), 1-10. https://doi.org/10.1186/s13023-021-01998-9
  • Brenner, M., Côté, S. M., Boivin, M., & Tremblay, R. E. (2016). Severe congenital malformations, family functioning and parents’ separation/ divorce: A longitudinal study. Child: Care, Health and Development, 42(1), 16-24. https://doi.org/10.1111/cch.12269
  • Campos, M. L. P., Enacan, R., Valle, M. G., & Chiesa, A. (2021). Parenting Styles and Coping Strategies in PKU Early Detected Children. Journal of Inborn Errors of Metabolism and Screening, 9. https://doi. org/10.1590/2326-4594-JIEMS-2020-0014
  • Cardinali, P., Migliorini, L., & Rania, N. (2019). The Caregiving Experiences of Fathers and Mothers of Children With Rare Diseases in Italy: Challenges and Social Support Perceptions. Frontiers in psychology, 10, Artículo 1780. https://doi.org/10.3389/fpsyg.2019.01780
  • Currie, G., & Szabo, J. (2019a). “It is like a jungle gym, and everything is under construction”: The parent’s perspective of caring for a child with a rare disease. Child: Care, Health and Development, 45(1), 96-103. https://doi.org/10.1111/cch.12628
  • Currie, G., & Szabo, J. (2019b). ‘It would be much easier if we were just quiet and disappeared’: Parents silenced in the experience of caring for children with rare diseases. Health Expectations, 22(6), 1251-1259. https://doi.org/10.1111/hex.12958
  • Currie, G., & Szabo, J. (2020). Social isolation and exclusion: the parents’ experience of caring for children with rare neurodevelopmental disorders. International Journal of Qualitative Studies on Health and Well-Being, 15(1), 1725362.https://doi.org/10.1080/17482631.2020.1725362
  • Federación Argentina de Enfermedades Poco Frecuentes [FADEPOF] (2018). Informe: Las enfermedades poco frecuentes en Argentina. Recuperado el 10 de Mayo de 2021, de https://fadepof.org.ar/_recursos/ noticias/archivos/202304170137554776.pdf?
  • Fonseca, A., Nazaré, B., & Canavarro, M. C. (2012). Parental Psychological Distress and Confidence After an Infant’s Birth: The Role of Attachment Representations in Parents of Infants with Congenital Anomalies and Parents of Healthy Infants. Journal of Clinical Psychology in Medical Settings, 20(2), 143-155. https://doi.org/10.1007/s10880-012-9329-9
  • Golfenshtein, N., Hanlon, A. L., Deatrick, J. A., & Medoff-Cooper, B. (2017). Parenting Stress in Parents of Infants With Congenital Heart Disease and Parents of Healthy Infants: The First Year of Life. Comprehensive Child and Adolescent Nursing, 40(4), 294-314. https:// doi.org/10.1080/24694193.2017.1372532
  • Gontard, A. von, Rudnik-Schöneborn, S., & Zerres, K. (2012). Stress and Coping in Parents of Children and Adolescents with Spinal Muscular Atrophy. Klinische Pädiatrie, 224(04), 247-251. https://doi. org/10.1055/s-0032-1304577
  • Gramer, G., Haege, G., Glahn, E. M., Hoffmann, G. F., Lindner, M., & Burgard, P. (2013). Living with an inborn error of metabolism detected by newborn screening-Parents’ perspectives on child development and impact on family life. Journal of Inherited Metabolic Disease, 37(2), 189-195. https://doi.org/10.1007/s10545-013-9639-6
  • Grant, S., Cross, E., Wraith, J. E., Jones, S., Mahon, L., Lomax, M., ... Hare, D. (2012). Parental social support, coping strategies, resilience factors, stress, anxiety and depression levels in parents of children with MPS III (Sanfilippo syndrome) or children with intellectual disabilities (ID). Journal of Inherited Metabolic Disease, 36(2), 281-291. https://doi. org/10.1007/s10545-012-9558-y
  • Hjorth, E., Kreicbergs, U., Sejersen, T., Werlauff, U., Rahbek, J., & Lövgren, M. (2021). Parents’ advice to other parents of children with spinal muscular atrophy: Two nationwide follow-ups. Journal of Child Health Care, 26(3), 407-421. https://doi.org/10.1177/13674935211015561
  • Ho, M. H. T., Lang, R., Ip, Y. T., Zhi, H., Wong, W. H. S., & Chan, S. H. S. (2021). The impact of paediatric neuromuscular disorders on parents’ health-related quality of life and family functioning. Hong Kong J Paediatr, 26(1), 14-20. https://www.hkjpaed.org/details.asp?id=1317&show=1234
  • Holm, K. G., Neville, A. J., Pierini, A., Bielenska, A. L., Jamry-Dziurla, A., Cavero-Carbonell, C., ... & Clemensen, J. (2021). The Voice of Parents of Children With a Congenital Anomaly-A EUROlinkCAT Study. Frontiers in Pediatrics, 9, 654883 https://doi.org/10.3389/fped.2021.654883
  • Johnson, J., Johnson, O., Heyhoe, J., Fielder, C., & Dunning, A. (2018). Parent Experiences and Preferences When Dysmelia Is Identified During the Prenatal and Perinatal Periods: A Qualitative Study Into Family Nursing Care for Rare Diseases. Journal of Family Nursing, 24(2), 271-293. https://doi.org/10.1177/1074840718772808
  • Jones, K. M., O’Grady, G., Rodrigues, M. J., Ranta, A., Roxburgh, R. H., Love, D. R., ... & MD-PREV study group. (2018). Impacts for children living with genetic muscle disorders and their parents-Findings from a population-based study. Journal of Neuromuscular Diseases, 5(3), 341- 352. https://doi.org/10.3233/JND-170287
  • Khair, K., & Pelentsov, L. (2019). Assessing the supportive care needs of parents with a child with a bleeding disorder using the Parental Needs Scale for Rare Diseases (PNS-RD): A single-centre pilot study. Haemophilia, 25(5), 831-837. https://doi.org/10.1111/hae.13826
  • Lamb, A. E., Biesecker, B. B., Umstead, K. L., Muratori, M., Biesecker, L. G., & Erby, L. H. (2016). Family functioning mediates adaptation in caregivers of individuals with Rett syndrome. Patient Education and Counseling, 99(11), 1873-1879. https://doi.org/10.1016/j. pec.2016.06.018
  • Liang, R., Chan, S. H. S., Ho, F. K. W., Tang, O. C., Cherk, S. W. W., Ip, P., & Lau, E. Y. Y. (2019). Health-related quality of life in Chinese boys with Duchenne muscular dystrophy and their families. Journal of Child Health Care, 23(3), 495-506. https://doi.org/10.1177/ 1367493519857423
  • Long, J. C., Best, S., Hatem, S., Theodorou, T., Catton, T., Murray, S., ... Christodoulou & J. (2021). The long and winding road: perspectives of people and parents of children with mitochondrial conditions negotiating management after diagnosis. Orphanet journal of rare diseases, 16(1), 1-12. https://doi.org/10.1186/s13023-021-01939-6
  • López, C. L. (2019). Promoción de la salud de las personas con enfermedades raras y sus familias: Experiencia de abordaje psicosocial. Clínica Contemporánea, 10(1), e4. https://doi.org/10.5093/cc2019a6
  • Magliano, L., D'Angelo, M. G., Vita, G., Pane, M., D'Amico, A., Balottin, U., ... & Telethon GUP10002 Working Group. (2014). Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: an Italian comparative study. Acta Myologica, 33(3), 136-143. https://www.ncbi.nlm.nih.gov/ pmc/articles/PMC4369844/
  • Miodrag, N., & Peters, S. (2015). Parent stress across molecular subtypes of children with Angelman syndrome. Journal of Intellectual Disability Research, 59(9), 816-826. https://doi.org/10.1111/jir.12195
  • Needham, M., Packman, W., Rappoport, M., Quinn, N., Cordova, M., Macias, S., ... Packman, S. (2013). MPS II: Adaptive Behavior of Patients and Impact on the Family System. Journal of Genetic Counseling, 23(3), 330-338. https://doi.org/10.1007/s10897-013- 9665-4
  • Neumann, M. L., Allen, J. Y., Kakani, S., Ladner, A., Rauen, M. H., Weaver, M. S., & Mercer, D. F. (2021). A beautiful struggle: Parent-perceived impact of short bowel syndrome on child and family wellbeing. Journal of Pediatric Surgery, 57(9), 149-157. https://doi.org/10.1016/j. jpedsurg.2021.09.039
  • Obeidat, H. M., Al Hadid, L. A., AL-Sagarat, A. Y., & Khrisat, M. (2021). Lived Experience of Jordanian Parents Having a Child with Duchenne Muscular Dystrophy. Journal of Pediatric Nursing, 57, 5-10. https://doi. org/10.1016/j.pedn.2020.11.001
  • Ortega, J. (2020). Funcionamiento familiar y apoyo social en cuidadores de niños con distrofia muscular de Duchenne. Resultados preliminares. XII Congreso Internacional de Investigación y Práctica Profesional en Psicología. XXVII Jornadas de Investigación. XVI Encuentro de Investigadores en Psicología del MERCOSUR. II Encuentro de Investigación de Terapia Ocupacional. II Encuentro de Musicoterapia. Facultad de Psicología-Universidad de Buenos Aires. Buenos Aires, Argentina. https://www.aacademica.org/000-007/714
  • Ortega, J., Vázquez, N., Flores, C., & Amayra, I. (2022). Mental health and psychological adaptation on parents of children with neuromuscular diseases. Children's Health Care, 51(1), 62-78. https://doi.org/10.1080/ 02739615.2021.1961581
  • Page, M. J., McKenzie, J. E., Bossuyt, P. M., Boutron, I., Hoffmann, T. C., Mulrow, C. D., . . . Moher, D. (2021). The PRISMA 2020 statement: An updated guideline for reporting systematic reviews. Bitish Medical Journal, 372(71). https://doi.org/10.1136/bmj.n71
  • Pangalila, R. F., Bos, G. A. M. van den, Stam, H. J., Exel, N. J. A. van, Brouwer, W. B. F., & Roebroeck, M. E. (2012). Subjective caregiver burden of parents of adults with Duchenne muscular dystrophy. Disability and Rehabilitation, 34(12), 988-996. https://doi.org/10.3109/ 09638288.2011.628738
  • Pasquini, T. L., Goff, S. L., & Whitehill, J. M. (2021). Navigating the US health insurance landscape for children with rare diseases: a qualitative study of parents’ experiences. Orphanet Journal of Rare Diseases, 16(1), 1-14. https://doi.org/10.1186/s13023-021-01943-w
  • Pfeiffer, K. M., Brod, M., Smith, A., Viuff, D., Ota, S., & Charlton, R. W. (2021). A qualitative study of the impacts of having an infant or young child with achondroplasia on parent well-being. Orphanet Journal of Rare Diseases, 16(1), 351-362. https://doi.org/10.1186/s13023-021-01978-z
  • Picci, R. L., Oliva, F., Trivelli, F., Carezana, C., Zuffranieri, M., Ostacoli, L., Furlan, P. M., & Lala, R. (2015). Emotional Burden and Coping Strategies of Parents of Children with Rare Diseases. Journal of Child and Family Studies, 24(2), 514-522. https://doi.org/10.1007/s10826- 013-9864-5
  • Porter, K. A., O’Neill, C., Drake, E., Parker, S., Escolar, M. L., Montgomery, S., ... Peay, H. L. (2020). Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment. Neurology and Therapy, 10(1), 197-212. https://doi.org/10.1007/ s40120-020-00226-z
  • Porteous, D., Davies, B., English, C., & Atkinson, J. (2021). An Integrative Review Exploring Psycho-Social Impacts and Therapeutic Interventions for Parent Caregivers of Young People Living with Duchenne’s Muscular Dystrophy. Children, 8(3), 212. https://doi.org/10.3390/children8030212
  • Qian, Y., McGraw, S., Henne, J., Jarecki, J., Hobby, K., & Yeh, W. S. (2015). Understanding the experiences and needs of individuals with spinal muscular atrophy and their parents: a qualitative study. BMC neurology, 15(1), 1-12. https://doi.org/10.1186/s12883-015-0473-3
  • Ragusa, L., Crinò, A., Grugni, G., Reale, L., Fiorencis, A., Licenziati, M. R., Faienza, M. F., Wasniewska, M., Delvecchio, M., Franzese, A., Rutigliano, I., Fusilli, P., Corica, D., Campana, G., Greco, D., Chiarito, M., Sacco, M., Toscano, S., & Marini, M. G. (2020). Caring and living with Prader-Willi syndrome in Italy: Integrating children, adults and parents’ experiences through a multicentre narrative medicine research. BMJ Open, 10(8), e036502. https://doi.org/10.1136/bmjopen-2019-036502
  • Rozensztrauch, A., Śmigiel, R., Błoch, M., & Patkowski, D. (2019). The impact of congenital esophageal atresia on the family functioning. Journal of Pediatric Nursing, 50, e85-e90. https://doi.org/10.1016/j.pedn.2019.04.009
  • Saetrang, T., Bjørk, I. T., Capjon, H., & Rasmussen, M. (2018). Parent-child communication and timing of interventions are challenges in the Duchenne muscular dystrophy care. Acta Paediatrica, 108(3), 535-540. https://doi. org/10.1111/apa.14537
  • Sjöberg, L., Hermansson, L., Lindner, H., & Fredriksson, C. (2020). Swedish parents’ experiences of their role in treatment for children with congenital limb reduction deficiency: Decision-making and treatment support. Child: Care, Health and Development, 46(6), 723-732. https:// doi.org/10.1111/cch.12802
  • Somanadhan, S., & Larkin, P. J. (2016). Parents’ experiences of living with, and caring for children, adolescents and young adults with Mucopolysaccharidosis (MPS). Orphanet Journal of Rare Diseases, 11(1), 1-14. https://doi.org/10.1186/s13023-016-0521-0
  • Somanadhan, S., Brinkley, A., & Larkin, P. J. (2021). Living through liminality? Situating the transitional experience of parents of children with mucopolysaccharidoses. Scandinavian Journal of Caring Sciences, 36(3), 614-624. https://doi.org/10.1111/scs.13026
  • Sulmonte, L. A. G., Bisordi, K., Ulm, E., & Nusbaum, R. (2020). Open communication of Duchenne muscular dystrophy facilitates disclosure process by parents to unaffected siblings. Journal of Genetic Counseling, 30(1), 246-256. https://doi.org/10.1002/jgc4.1315
  • Tramonti, F., Bonfiglio, L., Bongioanni, P., Belviso, C., Fanciullacci, C., Rossi, R., Chisari, C., & Carboncini, M. C. (2019). Caregiver burden and family functioning in different neurological diseases: Psychology, Health & Medicine, 24(1), 27-34. https://doi.org/10.1080/13548506.20 18.1510131
  • Trawicka, A., Lewandowska-Walter, A., Bogdanowicz, M., WoźniakMielczarek, L., Janikowska-Hołoweńko, D., & Bilicka-Siewert, M. (2019). Internalizing and externalizing behaviors in chronically ill adolescents in the context of family system functioning. Health Psychology Report, 7(3), 213-228. https://doi.org/10.5114/hpr.2019.87934
  • Turan, S., Ülgenalp, A., Memiş, H., Yiş, U., & Akay Pekcanlar, A. (2019). Family functioning and child behavioral problems with Duchenne/ Becker muscular dystrophy: A cross-sectional study. Journal of Surgery and Medicine, 3(7), 515-519. https://doi.org/10.28982/ josam.593412
  • Vitale, S. A. (2016). Parent Recommendations for Family Functioning With Prader-Willi Syndrome: A Rare Genetic Cause of Childhood Obesity. Journal of Pediatric Nursing, 31(1), 47-54. https://doi.org/10.1016/j. pedn.2015.11.001
  • Waldboth, V., Patch, C., Mahrer-Imhof, R., & Metcalfe, A. (2021). The family transition experience when living with childhood neuromuscular disease: A grounded theory study. Journal of Advanced Nursing, 77(4), 1921-1933. https://doi.org/10.1111/jan.14754
  • Yamaguchi, M., & Suzuki, M. (2014). Becoming a back-up carer: Parenting sons with Duchenne muscular dystrophy transitioning into adulthood. Neuromuscular Disorders, 25(1), 85-93. https://doi.org/10.1016/j. nmd.2014.09.001
  • Yang, B.-H., Mu, P.-F., & Wang, W.-S. (2016). The experiences of families living with the anticipatory loss of a school-age child with spinal muscular atrophy the parents’ perspectives. Journal of Clinical Nursing, 25(17-18), 2648-2657. https://doi.org/10.1111/jocn.13312
  • Zaher, A. (2012). Neuromuscular Disorders. BoD – Books on Demand. https://books.google.es/books?hl=es&lr=&id=Da2ZDwAAQBAJ&oi= fnd&pg= PR11&dq=Zaher,+A.+(2012).+Neuromuscular+Disorders.+B oD+– +Books+on+Demand.&ots=HUvneejEiE&sig=8t2DlAbQcw3Q byQjWyyK4r1c 98g#v=onepage&q=Zaher%2C%20A.%20(2012).%20 Neuromuscular%20Disor ders.%20BoD%20–%20Books%20on%20 Demand.&f=false
  • Zengin, M., Yayan, E. H., & Akinci, A. (2020). Difficulties experienced by Turkish parents and their coping strategies: Children with Mucopolysaccharidosis. Journal of Pediatric Nursing, 53, e142-e148. https://doi.org/10.1016/j.pedn.2020.03.009
La source de données: Dialnet