ArticleOrphanet journal of rare diseases2023
Living with a rare disease - experiences and needs in pediatric patients and their parents.
Article in Orphanet journal of rare diseases, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06548022 (Rare Group Problem Management Plus), which is not on this map. Cited by 66 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Rare Group Problem Management Plus
Who cites it
66 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Capturing Real-World Rare Disease Patient Journeys: Are Current Methodologies Sufficient for Informed Healthcare Decisions?Journal of evaluation in clinical practice · 2025Pooled it
- Trial
- A web-based psychological support program for caregivers of children with rare chronic diseases: a randomized controlled trial.Orphanet journal of rare diseases · 2024Trial
- Integrating optimal patient-centered care: patient- and family-reported experiences after complex treatment for rare diseases.World journal of pediatrics : WJP · 2026Article
- Patient pathways for rare liver diseases: a European template developed by ERN RARE-LIVER.Orphanet journal of rare diseases · 2026Review
- Clinical practice recommendations for the diagnosis and management of nephropathic cystinosis.Nature reviews. Nephrology · 2026Review
- From patient advocacy to patient-driven research: Building active partnerships beginning at the bench to reach the bedside.FEBS open bio · 2026Article
- Mucopolysaccharidosis Type II Screening, Diagnosis, and Management: A Literature Review and Practical Recommendations for Newborn Screening Programs and Health Care Providers to Support Families and Improve Outcomes.International journal of neonatal screening · 2026Review
- Health-related quality of life in children with multiple endocrine neoplasia (MEN) and their siblings.The Journal of clinical endocrinology and metabolism · 2026Article
- Labour of Love: A Sequential Exploratory Mixed-Methods Study on the Impact of Caring for a Child With Dravet Syndrome.Journal of intellectual disability research : JIDR · 2026Article
- Health-Related Quality of Life in Pediatric Hepatic Glycogen Storage Disease: A Dual-Perspective Study.Nutrients · 2026Article
- Health service access and delivery for people living with rare disorders: a scoping review.Orphanet journal of rare diseases · 2026Article
- The rare disease tree: adolescent voices, family narratives, and health professionals' views in Greece.European journal of pediatrics · 2026Article
- "If I go down, if I crumble, then everybody does" - identity crisis and emotional strain in parents of children with rare and undiagnosed conditions: a qualitative study.Orphanet journal of rare diseases · 2026Article
- Integrative Literature Review on the Lived Experiences of Parents of Children with a Rare Disease.Healthcare (Basel, Switzerland) · 2026Review
- Performance of ChatGPT-4o in Providing Information on Pediatric Inborn Errors of Immunity: A Cross-Sectional Evaluation.Journal of clinical medicine · 2026Article
- Time poverty of families of children with 22q11DS: a healthcare professional perspective.BMC pediatrics · 2026Article
- An Australian standard of care for Niemann-Pick disease type C.Internal medicine journal · 2026Article
- Mapping Dental Care for Children and Adolescents With Rare Diseases: A Brazilian Multicentre Study.Community dentistry and oral epidemiology · 2026Article
- Exploring the Intersection of Rare Diseases and Mental Health Within the Diagnostic Odyssey: A Narrative Review and Thematic Synthesis.Nursing open · 2026Review
6 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundA rare disease (RD) diagnosis and therapy can affect the family's quality of life and mental health. A lack of information and missing care options lead to helplessness and psychological stress within families. This work aims to identify patients' and parents' experiences in daily life and with the health care system as well as their needs and current pathways to psychosocial care to develop implementation strategies adapted to the families' needs.
methodsThe present analysis is part of the national multicenter study "Children Affected by Rare Disease and Their Families-Network (CARE-FAM-NET)." We conducted semi-structured telephone interviews with children, adolescents, and young adults with RD (aged 12 to 21 years) and parents of children with RD (aged 0 to 17 years). We analyzed the transcribed and anonymized interviews using the method of focused interview analyses to identify previous experiences with medical and psychosocial care and possible needs for improvement and support.
resultsSeventy-four parents of children with RD and 15 children, adolescents, and young adults with RD participated. Five main themes emerged. Daily life with an RD: RD affects the everyday and social life of the respondents, negatively impacting mental well-being. Experiences with the health care system: The long diagnostic path is stressful for families. Professionals' lack of information/education leads to inadequate care for those affected. Psychosocial support: Families do not know about psychosocial care services. In some cases, the families take advantage of psychosocial support services (such as support groups or advocacy groups), which are predominantly very helpful. Difficulties and barriers: Time, socio-legal and organizational problems burden families and lead to advantages in using psychosocial services. Improvements for patient-oriented support: Those affected wished for timely, preventive support (especially in administrative and socio-legal matters) and education regarding psychosocial care services.
conclusionRD represent a great challenge for all family members - patients, parents, and siblings. The patients' and parents' previous experiences in daily life, medical and psychosocial care show a need for target-group specific support, including training of health care professionals and low-threshold access care services and practical help for all family members.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.