The DOI matches its Crossref record; 53 of the 53 references it cites were found in a registry or an index.
The supportive care needs of parents with a child with a rare disease: results of an online survey
Open accessAbstract
BACKGROUND: Parents caring for a child affected by a rare disease have unmet needs, the origins of which are complex and varied. Our aim was to determine the supportive care needs of parents caring for a child with a rare disease. METHODS: An online survey was developed consisting of 45 questions (108 items) and separated into six domains. The survey included questions about perceived level of satisfaction with receiving care, experiences and needs of providing daily care, the impacts of disease on relationships, the emotional and psychological burdens of disease, and parents overall satisfaction with the support received. RESULTS: Three-hundred and one parents from Australia and New Zealand completed the survey; 91 % (n = 275/301) were mothers, with 132 distinct rare diseases being reported. Fifty-four percent (n = 140/259) of parents were dissatisfied with health professionals' level of knowledge and awareness of disease; 71 % (n = 130/183) of parents felt they received less support compared to other parents. Information regarding present (60 %, n = 146/240) and future services (72 %, n = 174/240) available for their child were considered important. Almost half of parents (45 %, n = 106/236) struggled financially, 38 % (n = 99/236) reduced their working hours and 34 % (n = 79/236) ceased paid employment. Forty-two percent (n = 99/223) of parents had no access to a disease specific support group, and 58 % (n = 134/230) stated that their number of friends had reduced since the birth of their child; 75 % (n = 173/230) had no contact with other parents with a child with a similar disease, and 46 % (n = 106/230) reported feeling socially isolated and desperately lonely. Most frequent emotions expressed by parents in the week prior to completing the survey were anxiety and fear (53 %, n = 119/223), anger and frustration (46 %, n = 103/223) and uncertainty (39 %, n = 88/223). CONCLUSION: This study is the first to develop an online survey specifically for use with parents to investigate their supportive care needs across a large and diverse group of rare diseases. The findings highlight that parents with a child with a rare disease have common unmet needs regardless of what disease their child has. Such information may allow health providers to improve child outcomes through improving parental supportive care.
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“The low prevalence of these conditions means there is often a lack of knowledge and scarcity of expertise among health care professionals [4,5].”
From Social Media Use Among Parents and Caregivers of Children With Rare Genetic Diseases: Scoping Review (2025) · cites this paper as [5]
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“Many parents may never physically meet other parents caring for a child with the same or similar genetic condition [5].”
From Social Media Use Among Parents and Caregivers of Children With Rare Genetic Diseases: Scoping Review (2025) · cites this paper as [5]
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Busby, D. M., Christensen, C., Crane, D. R., & Larson, J. H. (1995) · Journal of Marital and Family Therapy · doi:10.1111/j.1752-0606.1995.tb00163.x · Cited by 985
What are scoping studies? A review of the nursing literature
Davis, K., Drey, N., & Gould, D. (2009) · International Journal of Nursing Studies · doi:10.1016/j.ijnurstu.2009.02.010 · Cited by 855 · cited 1×
“Friends and family may struggle to fully comprehend the gravity of the parents’ situation and what they are going through, and as such, distance themselves from the parents [39].”
BackgroundWhy rare diseases are an important medical and social issue
Schieppati, A., Henter, J., Daina, E., & Aperia, A. C. (2008) · The Lancet · doi:10.1016/s0140-6736(08)60872-7 · Cited by 620
Barlow, J., & Ellard, D. R. (2006) · Child Care Health and Development · doi:10.1111/j.1365-2214.2006.00591.x · Cited by 444
Clinical research for rare disease: Opportunities, challenges, and solutions
Griggs, R. C., Batshaw, M., Dunkle, M., Gopal-Srivastava, R., Kaye, E., Krischer, J., Nguyen, T., Paulus, K., & Merkel, P. A. (2009) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2008.10.003 · Cited by 401 · cited 1×
“Recruitment challenges and small sample sizes are common issues encountered by researchers undertaking work in the area of rare diseases [50].”
BackgroundAnderson, M., Elliott, E. J., & Zurynski, Y. A. (2013) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-8-22 · Cited by 331
The supportive care needs of parents caring for a child with a rare disease: A scoping review
Pelentsov, L. J., Laws, T. A., & Esterman, A. J. (2015) · Disability and Health Journal · doi:10.1016/j.dhjo.2015.03.009 · Cited by 312
Self-citationDellve, L., Samuelsson, L., Tallborn, A., Fasth, A., & Hallberg, L. (2006) · Journal of Advanced Nursing · doi:10.1111/j.1365-2648.2006.03736.x · Cited by 294
Graungaard, A. H., & Skov, L. (2006) · Child Care Health and Development · doi:10.1111/j.1365-2214.2006.00666.x · Cited by 289
Shilling, V., Morris, C., Thompson‐Coon, J., Ukoumunne, O., Rogers, M., & Logan, S. (2013) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.12091 · Cited by 247 · cited 1×
“It provides parents with a shared social identity and sense of belonging, and enables parents to better cope with their situation, alleviate stress and feel empowered and supported to manage their child’s ongoing health care needs [40–42].”
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Zurynski, Y., Deverell, M., Dalkeith, T., Johnson, S., Christodoulou, J., Leonard, H., & Elliott, E. (2017) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-017-0622-4 · Cited by 211
Nicholl, H., Tracey, C., Begley, T., King, C., & Lynch, A. M. (2017) · Journal of Medical Internet Research · doi:10.2196/jmir.5834 · Cited by 143
Being the Pillar for Children with Rare Diseases—A Systematic Review on Parental Quality of Life
Boettcher, J., Boettcher, M., Wiegand-Grefe, S., & Zapf, H. (2021) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph18094993 · Cited by 126
“Even though there is great heterogeneity in the complex disease patterns of rare diseases, the burden on the affected patients and their families is very similar [5,6].”
BackgroundExperiencing loneliness in parenthood: a scoping review
Nowland, R. A., Thomson, G., McNally, L., Smith, T. D. H., & Whittaker, K. A. (2021) · Perspectives in Public Health · doi:10.1177/17579139211018243 · Cited by 118
Children with a rare congenital genetic disorder: a systematic review of parent experiences
von der Lippe, C., Neteland, I., & Feragen, K. B. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02525-0 · Cited by 94
Metadata
- Authors
- Pelentsov, L. J., Fielder, A. L., Laws, T. A., & Esterman, A. J.
- Affiliations
- University of South Australia (AU)
- Keele University (GB)
- Corresponding author
- Pelentsov, Lemuel J.
- Venue
- BMC Family Practice
- Published
- 2016-07-21
- Volume
- 17
- Issue
- 1
- Pages
- 88-88
- ISSN
- 1471-2296 (ISSN-L)
- PMC
- PMC4955113
- OpenAlex
- W2477707385
- Cited by
- 168
- References
- 53
- Citations by year
- 2026: 19 · 2025: 24 · 2024: 25 · 2023: 27 · 2022: 28 · 2021: 17 · 2020: 9 · 2019: 7 · 2018: 7 · 2017: 4 · 2016: 1
- FWCI
- 8.48
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by
- Locations
- BMC Family Practice (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- UniSA Research Outputs Repository (University of South Australia) (acceptedVersion, other-oa)
- ResearchOnline - JCU (James Cook University) (submittedVersion)
- University of Salford Institutional Repository (University of Salford) (submittedVersion, cc-by)
- Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion, cc-by)
- Topics
- Social Sciences › Psychology › Clinical Psychology › Family and Disability Support Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Adolescent and Pediatric Healthcare
- Keywords
- rare diseases, parents of children with rare diseases, supportive care needs, caregiver burden, social isolation, loneliness, financial stress, job loss, support groups, emotional burden, family relationships
- MeSH terms
- Adolescent, Adult, Anxiety, Australia, Clinical Competence, Emotions, Fathers, Female, Health Services Accessibility, Humans, Interpersonal Relations, Male, Middle Aged, Mothers, New Zealand, Quality of Health Care, Surveys and Questionnaires, Self-Help Groups, Social Isolation, Social Support, Reproducibility of Results, Patient Satisfaction, Needs Assessment, Uncertainty, Rare Diseases, Consumer Health Information, Young Adult
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