ArticleOrphanet journal of rare diseases2022
Common needs in uncommon conditions: a qualitative study to explore the need for care in pediatric patients with rare diseases.
Article in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The management of rare disease patients from a grassroot perspective: the role of patients' organizations in the global recognition of rare diseases in Cameroon.The Pan African medical journal · 2024Pooled it
- Content validity, face validity and comprehensiveness of generic quality-of-life measures in adults and children with rare genetic conditions and their carers: a think aloud qualitative study.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2026Article
- The rare disease tree: adolescent voices, family narratives, and health professionals' views in Greece.European journal of pediatrics · 2026Article
- Living with Xeroderma Pigmentosum: a qualitative study of the psychosocial challenges experienced by families of children with a rare skin disorder.Orphanet journal of rare diseases · 2026Article
- Time poverty of families of children with 22q11DS: a healthcare professional perspective.BMC pediatrics · 2026Article
- 'If You Don't Fight for Yourself, No One Else Will': An In-Depth Interpretative Phenomenological Analysis of Rare Disorder Care Advocacy in Aotearoa New Zealand.Health expectations : an international journal of public participation in health care and health policy · 2026Article
- Social support and maternal caregiving burden in families of children with Angelman syndrome in China: the mediating role of self-stigma.BMC psychology · 2026Article
- Parents' experiences of condition management in children born with esophageal atresia-tracheoesophageal fistula during their early childhood.Orphanet journal of rare diseases · 2026Article
- Unmet Needs in the Care of Patients with Duchenne Muscular Dystrophy in Brazil.Arquivos de neuro-psiquiatria · 2026Observational
- Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions.Human mutation · 2026Article
- Lived Experiences of Patients With Rare Diseases and Healthcare System Barriers: A Phenomenological Study.Journal of nursing management · 2026Article
- The effect of burden and loneliness on depression in female caregivers through purpose in life.BMC public health · 2025Article
- Addressing psychosocial vulnerability in rare diseases: a call to action from a European expert consensus study.Orphanet journal of rare diseases · 2025Article
- The impact of vanishing white matter on unaffected family members.Orphanet journal of rare diseases · 2025Article
- Quality of life among children and young adults with rare diseases. A parental perspective.European journal of pediatrics · 2025Article
- Psychological supports for people living with a rare disease in Ireland: an online survey-based study.Irish journal of medical science · 2025Article
- Effects of therapeutic horsemanship on caregiver stress scores of children with autism.Frontiers in psychiatry · 2025Article
- Clinical features, disease burden and impact on quality of life in participants with mitochondrial encephalomyopathy.Frontiers in neurology · 2025Article
- Like milk on the stove: Healthcare professionals navigating uncertainty when caring for families with 22q11DS.PloS one · 2025Article
- Anorectal malformations.Nature reviews. Disease primers · 2024Review
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundChallenges faced by children diagnosed with a rare disease or complex condition and their family members are often characterized by disease-specific complexities, such as a prolonged diagnostic process, an uncertain prognosis, and the absence of curative treatment. The psychological burden of living with a rare disease or complex condition is often understudied and may present overarching concepts that shape the general experience of having been diagnosed with a rare condition. The present study examines common needs from a comprehensive perspective combining relevant aspects from the rare disease literature in a theoretical perspective from pediatric psychology, such as a family-centred, developmental and interdisciplinary approach. An exploratory study was designed among parents from children with a rare disease or complex condition in an Integrated University Children's Hospital in the Netherlands. Semi-structured interviews were conducted with open-ended questions based around the experience of having a child diagnosed with a rare condition, such as the psychosocial impact on the child and it's development, the impact on the family, and how provided care was experienced.
resultsTwelve interviews were analysed with a thematic content analysis to identify common needs. Eight themes followed from the analysis and uncovered the need for (1) family-focused care, (2) coping with uncertainty, (3) empathic communication, (4) practical support, (5) information, (6) psychological support, (7) interdisciplinary care, and (8) social support.
conclusionsThe results from our study provide directions for research and health care to support young patients with a rare disease or complex condition and their families. Moreover, our results demonstrated that there are overarching concepts across different rare diseases that may be optimally supported with interdisciplinary care.
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