Barriers to and Facilitators of Providing Care for Adolescents Suffering from Rare Diseases: A Mixed Systematic Review

Overview

Journal Pediatr Rep

Publisher MDPI

Specialty Pediatrics

Date 2023 Aug 22

PMID 37606447

Authors

Pelagia Tsitsani

Georgios Katsaras

Elpidoforos S Soteriades

Affiliations

Soon will be listed here.

Abstract

Rare Diseases (RDs) in adolescents are characterized by low frequency and clinical heterogeneity, are chronic and deliberating and demand a multidisciplinary approach as well as costly and specialized treatments. Comprehending patients' and parents' needs through a mixed systematic review is essential for healthcare system planning. This mixed systematic review explored barriers to and facilitators of effective care for adolescents with RDs as perceived by patients and their parents. Three databases (2008-2023) were searched and twenty-five articles were selected and critically appraised with the Mixed Methods Appraisal Tool (MMAT; version 2018). The review followed a convergent integrated approach for data extraction according to Joanna Briggs Institute's (JBI) mixed method systematic review (MMSR) methodology. Subsequent reflexive thematic analysis categorized the barriers and facilitators into five levels (intrapersonal, interpersonal, institutional, community and public policy) following the conceptual framework of the socio-ecological model for healthcare promotion. Barriers on the institutional and public policy level stood out as the most frequently reported, resulting in unmet care needs and frustrating family dynamics. National and regional healthcare policies are rarely actually linked to pragmatic intervention programs with a measurable impact on patients' welfare. Targeted strategies involving primary care infrastructure and personnel for better coordination and management of the disease are discussed.

Citing Articles

Nature-based interventions for individuals with rare skeletal disorders: evaluation of a 5-day sailing program on health-related quality of life.

Boarini M, Romeo A, Banchelli F, Grippa E, Forni S, la Forgia M Sci Rep. 2024; 14(1):26339.

PMID: 39487306 PMC: 11530639. DOI: 10.1038/s41598-024-77934-1.

Barriers to and Facilitators of Providing Care for Adolescents Suffering from Rare Diseases: A Mixed Systematic Review.

Tsitsani P, Katsaras G, Soteriades E Pediatr Rep. 2023; 15(3):462-482.

PMID: 37606447 PMC: 10443320. DOI: 10.3390/pediatric15030043.

References

Uhm J, Choi M . Barriers to and Facilitators of School Health Care for Students with Chronic Disease as Perceived by Their Parents: A Mixed Systematic Review. Healthcare (Basel). 2020; 8(4). PMC: 7712821. DOI: 10.3390/healthcare8040506. View

Lopes M, Koch V, Sarrubbi-Junior V, Gallo P, Carneiro-Sampaio M . Difficulties in the diagnosis and treatment of rare diseases according to the perceptions of patients, relatives and health care professionals. Clinics (Sao Paulo). 2018; 73:e68. PMC: 5866403. DOI: 10.6061/clinics/2018/e68. View

Puiu M, Dan D . Rare diseases, from European resolutions and recommendations to actual measures and strategies. Maedica (Bucur). 2011; 5(2):128-31. PMC: 3150005. View

Fuerboeter M, Boettcher J, Barkmann C, Zapf H, Nazarian R, Wiegand-Grefe S . Quality of life and mental health of children with rare congenital surgical diseases and their parents during the COVID-19 pandemic. Orphanet J Rare Dis. 2021; 16(1):498. PMC: 8626760. DOI: 10.1186/s13023-021-02129-0. View

Verger S, Negre F, Fernandez-Hawrylak M, Paz-Lourido B . The Impact of the Coordination between Healthcare and Educational Personnel on the Health and Inclusion of Children and Adolescents with Rare Diseases. Int J Environ Res Public Health. 2021; 18(12). PMC: 8296368. DOI: 10.3390/ijerph18126538. View

Stella P, Gold-von Simson G . Pharmaceutical pricing, cost containment and new treatments for rare diseases in children. Orphanet J Rare Dis. 2014; 9:152. PMC: 4221662. DOI: 10.1186/s13023-014-0152-2. View

Lyon M, Wiener L . Special Issue: Psychosocial Considerations for Children and Adolescents Living with a Rare Disease. Children (Basel). 2022; 9(7). PMC: 9322344. DOI: 10.3390/children9071099. View

Bhattacharya K, Millis N, Jaffe A, Zurynski Y . Rare diseases research and policy in Australia: On the journey to equitable care. J Paediatr Child Health. 2021; 57(6):778-781. DOI: 10.1111/jpc.15507. View

Cardinali P, Migliorini L, Rania N . The Caregiving Experiences of Fathers and Mothers of Children With Rare Diseases in Italy: Challenges and Social Support Perceptions. Front Psychol. 2019; 10:1780. PMC: 6690318. DOI: 10.3389/fpsyg.2019.01780. View

10.

Donabedian A . Evaluating the quality of medical care. 1966. Milbank Q. 2005; 83(4):691-729. PMC: 2690293. DOI: 10.1111/j.1468-0009.2005.00397.x. View

11.

Tsitsani P, Katsaras G, Soteriades E . Barriers to and Facilitators of Providing Care for Adolescents Suffering from Rare Diseases: A Mixed Systematic Review. Pediatr Rep. 2023; 15(3):462-482. PMC: 10443320. DOI: 10.3390/pediatric15030043. View

12.

Epps C, Bax R, Croker A, Green D, Gropman A, Klein A . Global Regulatory and Public Health Initiatives to Advance Pediatric Drug Development for Rare Diseases. Ther Innov Regul Sci. 2022; 56(6):964-975. PMC: 9040360. DOI: 10.1007/s43441-022-00409-w. View

13.

Black A, Baker M . The impact of parent advocacy groups, the Internet, and social networking on rare diseases: the IDEA League and IDEA League United Kingdom example. Epilepsia. 2011; 52 Suppl 2:102-4. DOI: 10.1111/j.1528-1167.2011.03013.x. View

14.

Walton H, Simpson A, Ramsay A, Hudson E, Hunter A, Jones J . Developing a taxonomy of care coordination for people living with rare conditions: a qualitative study. Orphanet J Rare Dis. 2022; 17(1):171. PMC: 9020422. DOI: 10.1186/s13023-022-02321-w. View

15.

Somanadhan S, Larkin P . Parents' experiences of living with, and caring for children, adolescents and young adults with Mucopolysaccharidosis (MPS). Orphanet J Rare Dis. 2016; 11(1):138. PMC: 5057247. DOI: 10.1186/s13023-016-0521-0. View

16.

Patterson A, OBoyle M, VanNoy G, Dies K . Emerging roles and opportunities for rare disease patient advocacy groups. Ther Adv Rare Dis. 2023; 4:26330040231164425. PMC: 10184204. DOI: 10.1177/26330040231164425. View

17.

Pasquini T, Goff S, Whitehill J . Navigating the U.S. health insurance landscape for children with rare diseases: a qualitative study of parents' experiences. Orphanet J Rare Dis. 2021; 16(1):313. PMC: 8281562. DOI: 10.1186/s13023-021-01943-w. View

18.

Gimenez-Lozano C, Paramo-Rodriguez L, Cavero-Carbonell C, Corpas-Burgos F, Lopez-Maside A, Guardiola-Vilarroig S . Rare Diseases: Needs and Impact for Patients and Families: A Cross-Sectional Study in the Valencian Region, Spain. Int J Environ Res Public Health. 2022; 19(16). PMC: 9408677. DOI: 10.3390/ijerph191610366. View

19.

Magliano L, Patalano M, Sagliocchi A, Scutifero M, Zaccaro A, DAngelo M . "I have got something positive out of this situation": psychological benefits of caregiving in relatives of young people with muscular dystrophy. J Neurol. 2013; 261(1):188-95. PMC: 3895206. DOI: 10.1007/s00415-013-7176-8. View

20.

Witt S, Kolb B, Bloemeke J, Mohnike K, Bullinger M, Quitmann J . Quality of life of children with achondroplasia and their parents - a German cross-sectional study. Orphanet J Rare Dis. 2019; 14(1):194. PMC: 6688231. DOI: 10.1186/s13023-019-1171-9. View