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Record W4406629320 · doi:10.1016/j.pedn.2025.01.003

Assessing the supportive care needs of parents of children with rare diseases in Ireland

2025· article· en· W4406629320 on OpenAlexfundno aff
Suja Somanadhan, Helen McAneney, Atif Awan, Sandra McNulty, Alison Sweeney, Niamh Buckle, Shannon Sinnott, Shirley Bracken, Amy Jayne McKnight, Thilo Kroll, Lemuel J. Pelentsov

Bibliographic record

VenueJournal of Pediatric Nursing · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Rare Diseases
Canadian institutionsnot available
FundersMedical Research CouncilChildren's Health FoundationOur Lady's Children's Hospital, Crumlin
KeywordsMedicinePediatricsFamily medicinePsychology

Abstract

fetched live from OpenAlex

PURPOSE: Rare diseases are individually uncommon yet collectively prevalent. They affect over 300,000 people in Ireland, with 50-70 % impacting children. This study explores the supportive care needs of parents caring for children with rare diseases in Ireland, utilising a validated Parental Needs Scale for Rare Diseases (PNS-RD). DESIGN AND METHODS: This descriptive quantitative study employed survey techniques to assess parental support needs. An online survey was administered to parents across Ireland from August 2021 to December 2021 using the Qualtrics™ platform. RESULTS: Out of 107 consented participants, 89 provided data suitable for analysis. Findings revealed significant challenges, with children averaging six hospital visits per year; 77 % of families indicated special education needs, and 42 % required medically complex care. The PNS-RD scale mean was M = 48.62 (95 % CI: 44.5-52.7), comprising four dimensions (each scored out of 25): i) Understanding the disease (M = 9.01, 95 % CI: 7.5-10.5), ii) Working with health professionals (M = 13.68, 95 % CI: 12.0-15.4), iii) Emotional issues (M = 13.22, 95 % CI: 12.0-14.5), and iv) Financial needs (M = 12.94, 95 % CI: 11.2-14.6). Parents demonstrated confidence in managing their child's care but reported considerable emotional strain and financial challenges. CONCLUSION: While parents generally felt confident in handling their child's rare disease and were moderately satisfied with the care and support received, the emotional, psychological, and financial toll remained high. IMPLICATIONS FOR PRACTICE: This study underscores the urgent need for comprehensive support systems to alleviate these burdens, advocating for tailored healthcare and social support interventions to meet the diverse needs of these families.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.012
Threshold uncertainty score0.205

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.005
GPT teacher head0.270
Teacher spread0.266 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations11
Published2025
Admission routes1
Has abstractyes

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