Vrij-van den Bos, S., Hol, J.A., La Piana, R., et al. 4H leukodystrophy: a brain magnetic resonance imaging scoring system. Neuropediatrics 48 (2017), 152–160.
Bernard, G., Chouery, E., Putorti, M.L., et al. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. Am J Hum Genet 89 (2011), 415–423.
Tetreault, M., Choquet, K., Orcesi, S., et al. Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. Am J Hum Genet 89 (2011), 652–655.
Saitsu, H., Osaka, H., Sasaki, M., et al. Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet 89 (2011), 644–651.
Bernard, G, Vanderver, A, POLR3-Related Leukodystrophy. GeneReviews®, 2017, University of Washington, Seattle, WA.
Wolf, N.I., Vanderver, A., van Spaendonk, R.M., et al. Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology 83 (2014), 1898–1905.
Al Yazidi, G., Tran, L.T., Guerrero, K., et al. Dystonia in RNA polymerase III-related leukodystrophy. Mov Disord Clin Pract 6 (2019), 155–159.
Gauquelin, L., Cayami, F.K., Sztriha, L., et al. Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants. Neurol Genet, 5, 2019, e369.
Wolff, A., Koch, M.J., Benzinger, S., et al. Rare dental peculiarities associated with the hypomyelinating leukoencephalopathy 4H syndrome/ADDH. Pediatr Dent 32 (2010), 386–392.
Pelletier, F., Perrier, S., Cayami, F.K., et al. Endocrine and growth abnormalities in 4H leukodystrophy caused by variants in POLR3A, POLR3B, and POLR1C. J Clin Endocrinol Metab 106 (2021), e660–e674.
Dellve, L., Samuelsson, L., Tallborn, A., Fasth, A., Hallberg, L.R., Stress and well-being among parents of children with rare diseases: a prospective intervention study. J Adv Nurs 53 (2006), 392–402.
Zurynski, Y., Deverell, M., Dalkeith, T., et al. Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays. Orphanet J Rare Dis, 12, 2017, 68.
von der Lippe, C., Neteland, I., Feragen, K.B., Children with a rare congenital genetic disorder: a systematic review of parent experiences. Orphanet J Rare Dis, 17, 2022, 375.
Boettcher, J., Boettcher, M., Wiegand-Grefe, S., Zapf, H., Being the pillar for children with rare Diseases-A systematic review on parental quality of life. Int J Environ Res Public Health, 18, 2021, 4993.
Le, A., Thibault, K.-A., Yazdani, P.A., et al. POLR3-Related leukodystrophy: a qualitative study on parents’ experiences with the health care system. Pediatr Neurol 166 (2025), 81–87.
Yazdani, P.A., St-Jean, M.L., Matovic, S., et al. The experience of parents of children with genetically determined leukoencephalopathies with the health care system: a qualitative study. J Child Neurol 38 (2023), 329–335.
Rice, D.B., Carboni-Jiménez, A., Cañedo-Ayala, M., et al. Perceived benefits and facilitators and barriers to providing psychosocial interventions for informal caregivers of people with rare diseases: a scoping review. Patient 13 (2020), 471–519.
Witt, S., Schuett, K., Wiegand-Grefe, S., Boettcher, J., Quitmann, J., Living with a rare disease - experiences and needs in pediatric patients and their parents. Orphanet J Rare Dis, 18, 2023, 242.
Fidika, A., Salewski, C., Goldbeck, L., Quality of life among parents of children with phenylketonuria (PKU). Health Qual Life Outcomes, 11, 2013, 54.
ten Hoedt, A.E., Maurice-Stam, H., Boelen, C.C., et al. Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life. J Inherit Metab Dis 34 (2011), 391–398.
Vermaes, I.P., van Susante, A.M., van Bakel, H.J., Psychological functioning of siblings in families of children with chronic health conditions: a meta-analysis. J Pediatr Psychol 37 (2012), 166–184.
Haukeland, Y.B., Vatne, T.M., Mossige, S., Fjermestad, K.W., Psychosocial functioning in siblings of children with rare disorders compared to controls. Yale J Biol Med 94 (2021), 537–544.
McKenzie Smith, M., Pinto Pereira, S., Chan, L., Rose, C., Shafran, R., Impact of well-being interventions for siblings of children and young people with a chronic physical or mental health condition: a systematic review and meta-analysis. Clin Child Fam Psychol Rev 21 (2018), 246–265.
Kelada, L., Wakefield, C.E., Drew, D., et al. Siblings of young people with chronic illness: caring responsibilities and psychosocial functioning. J Child Health Care 26 (2022), 581–596.
van Voorst, R.J., Schoenmakers, D.H., van Beelen, I., et al. The impact of vanishing white matter on unaffected family members. Orphanet J Rare Dis, 20, 2025, 456.
Mirchi, A., Pelletier, F., Tran, L.T., et al. Health-related quality of life for patients with genetically determined leukoencephalopathy. Pediatr Neurol 84 (2018), 21–26.
Dermer, E., Spahr, A., Tran, L.T., et al. Stress in parents of children with genetically determined leukoencephalopathies: a pilot study. J Child Neurol 35 (2020), 901–907.
Lentini, L., Toutounchi, H., Chapleau, A., et al. Stress and quality of life of parents of children with POLR3-Related leukodystrophy: a cross-sectional pilot study. J Child Neurol 40 (2025), 26–38.
Renjith, V., Yesodharan, R., Noronha, J.A., Ladd, E., George, A., Qualitative methods in health care research. Int J Prev Med, 12, 2021, 20.
Bhandari, P., What is qualitative research? | Methods examples scribbr. Available at: scribbr.com/methodology/qualitative-research/, 2023 Accessed December 9, 2024.
Wong, L., Data analysis in qualitative research: a brief guide to using nvivo. Malays Fam Physician 3 (2008), 14–20.
Moser, A., Korstjens, I., Series: practical guidance to qualitative research. Part 3: sampling, data collection and analysis. Eur J Gen Pract 24 (2018), 9–18.
Bieri, D., Encyclopedia of quality of life and well-being research, 2014, Springer Dordrecht, Dordrecht, Netherlands.
Braun, V., Clarke, V., Using thematic analysis in psychology. Qual Res Psychol 3 (2006), 77–101.
Clarke, V., Braun, V., Successful qualitative research: a practical guide for beginners, 2013, Sage Publications, London, UK.
Dhakal, K., NVivo. J Med Libr Assoc 110 (2022), 270–272.
Guba, E.G., Lincoln, Y.S., Competing paradigms in qualitative research. Handbook of qualitative research. 1994, Sage Publications, Inc, Thousand Oaks, CA, 105–117.
Currie, G., Szabo, J., '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 Expect 22 (2019), 1251–1259.
Currie, G., Szabo, J., Social isolation and exclusion: the parents' experience of caring for children with rare neurodevelopmental disorders. Int J Qual Stud Health Well-being, 15, 2020, 1725362.
Pelentsov, L.J., Fielder, A.L., Laws, T.A., Esterman, A.J., The supportive care needs of parents with a child with a rare disease: results of an online survey. BMC Fam Pract, 17, 2016, 88.
Castro, A.R., Morand, M., Rauch, F., Tsimicalis, A., The direct and indirect financial costs sustained by parents of children with osteogenesis imperfecta: a brief report. McGill J Med, 20, 2022.
Anderson, M., Elliott, E.J., Zurynski, Y.A., Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support. Orphanet J Rare Dis, 8, 2013, 22.
Mahmoudi-Gharaei, J., Mostafavi, S., Alirezaei, N., Quality of life and the associated psychological factors in caregivers of children with PKU. Iran J Psychiatry 6 (2011), 66–69.
Driscoll, K.A., Montag-Leifling, K., Acton, J.D., Modi, A.C., Relations between depressive and anxious symptoms and quality of life in caregivers of children with cystic fibrosis. Pediatr Pulmonol 44 (2009), 784–792.
Picci, R.L., Trivelli, F., Lala, R., Furlan, P., Marmo, C., Oliva, F., Anxiety, depression and quality of life in parents of children affected by rare diseases. Eur Psychiatry, 27, 2012, 881.
Pelentsov, L.J., Fielder, A.L., Esterman, A.J., The supportive care needs of parents with a child with a rare disease: a qualitative descriptive study. J Pediatr Nurs 31 (2016), e207–e218.
Bruns, D., Foerster, K., 'We've been through it all together': supports for parents with children with rare trisomy conditions. J Intellect Disabil Res 55 (2011), 361–369.
Baumbusch, J., Mayer, S., Sloan-Yip, I., Alone in a crowd? Parents of children with rare diseases’ experiences of navigating the healthcare system. J Genet Couns 28 (2018), 80–90.
Vitale, S.A., Parent recommendations for family functioning with Prader-Willi syndrome: a rare genetic cause of childhood obesity. J Pediatr Nurs 31 (2016), 47–54.
Zelihić, D., Hjardemaal, F.R., Lippe, C.V., Caring for a child with Bardet-Biedl syndrome: a qualitative study of the parental experiences of daily coping and support. Eur J Med Genet, 63, 2020, 103856.
Ragusa, L., Crinò, A., Grugni, G., et al. Caring and living with Prader-Willi syndrome in Italy: integrating children, adults and parents' experiences through a multicentre narrative medicine research. BMJ Open, 10, 2020, e036502.
Johansen, L., O'Hare, F., Shepard, E.R., et al. Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis. Orphanet J Rare Dis, 19, 2024, 129.
Benefits of support conferences for parents of and people with moebius syndrome, 2016, Educational Publishing Foundation, Washington, DC.
Bogart, K.R., Frandrup, E., Locke, T., et al. "Rare place where I feel normal": perceptions of a social support conference among parents of and people with Moebius syndrome. Res Dev Disabil 64 (2017), 143–151.
Haukeland, Y.B., Fjermestad, K.W., Mossige, S., Vatne, T.M., Emotional experiences among siblings of children with rare disorders. J Pediatr Psychol 40 (2015), 712–720.
Lobato, D.J., Kao, B.T., Brief report: family-based group intervention for young siblings of children with chronic illness and developmental disability. J Pediatr Psychol 30 (2005), 678–682.
Rana, P., Mishra, D., Quality of life of unaffected siblings of children with chronic neurological disorders. Indian J Pediatr 82 (2015), 545–548.
Vatne, T.M., Helmen, I., Bahr, D., Kanavin, Ø., Nyhus, L., "she came out of mum's tummy the wrong way". (Mis)conceptions among siblings of children with rare disorders. J Genet Couns 24 (2015), 247–258.
Merker, V.L., Plotkin, S.R., Charns, M.P., Meterko, M., Jordan, J.T., Elwy, A.R., Effective provider-patient communication of a rare disease diagnosis: a qualitative study of people diagnosed with schwannomatosis. Patient Educ Couns 104 (2021), 808–814.
Adams, D.R., van Karnebeek, C.D.M., Agulló, S.B., et al. Addressing diagnostic gaps and priorities of the global rare diseases community: recommendations from the IRDiRC diagnostics scientific committee. Eur J Med Genet, 70, 2024, 104951.
Committee on Diagnostic Error in Health C, Board on Health Care S. Institute of M, the national academies of sciences E, medicine. Balogh, E.P., Miller, B.T., Ball, J.R., (eds.) Improving diagnosis in health care, 2015, National Academies Press (US), Washington, DC Copyright 2015 by the National Academy of Sciences. All rights reserved.
Long, J.C., Best, S., Nic Giolla Easpaig, B., et al. Needs of people with rare diseases that can be supported by electronic resources: a scoping review. BMJ Open, 12, 2022, e060394.
Patterson, A.M., O'Boyle, M., VanNoy, G.E., Dies, K.A., Emerging roles and opportunities for rare disease patient advocacy groups. Ther Adv Rare Dis, 4, 2023, 26330040231164425.
Delisle, V.C., Gumuchian, S.T., Rice, D.B., et al. Perceived benefits and factors that influence the ability to establish and maintain patient support groups in rare diseases: a scoping review. Patient 10 (2017), 283–293.
Rihm, L., Dreier, M., Rezvani, F., Wiegand-Grefe, S., Dirmaier, J., The psychosocial situation of families caring for children with rare diseases during the COVID-19 pandemic: results of a cross-sectional online survey. Orphanet J Rare Dis, 17, 2022, 449.