ReviewFrontiers in public health2025
The impact of rare diseases on the quality of life in paediatric patients: current status.
Review in Frontiers in public health, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Self-reported perspective in rare genetic diseases: a systematic review of patient-reported outcome measures classified using the international classification of functioning, disability and health framework.Journal of patient-reported outcomes · 2026Pooled it
- Precision for all children: embedding equity into precision medicine for children.BMJ paediatrics open · 2026Article
- Health-Related Quality of Life in Pediatric Hepatic Glycogen Storage Disease: A Dual-Perspective Study.Nutrients · 2026Article
- Expertise of European Clinical Trial Units in Conducting and Managing Cross-Border Pediatric Clinical Trials for Rare Diseases.Therapeutic innovation & regulatory science · 2026Article
- Integrative Literature Review on the Lived Experiences of Parents of Children with a Rare Disease.Healthcare (Basel, Switzerland) · 2026Review
- Quantifying the Functional Gap in Alkaptonuria Through Machine Learning and Clinical Data Integration.Bioengineering (Basel, Switzerland) · 2026Article
- Age-varying associations between parent-reported executive function and internalizing/externalizing problems in children with neurofibromatosis type 1: an integrative analysis of data from nine institutions.Journal of the International Neuropsychological Society : JINS · 2026Article
- The transformative potential of artificial intelligence in pediatric medicine: Current applications, methodological challenges, and future directions.Pediatric investigation · 2026Review
- Epidemiology, Comorbidities, and Healthcare Costs of Prader-Willi Syndrome in South Korea Using the Korean National Health Insurance Service Database.Journal of obesity & metabolic syndrome · 2026Article
- Age trends of internalizing and externalizing problems in children with neurofibromatosis type 1: a multicenter study.European child & adolescent psychiatry · 2026Article
- The Potential of Digital Twins for Pediatric Rare Diseases.CPT: pharmacometrics & systems pharmacology · 2026Review
- Age-Specific ADHD and Internalizing/Externalizing Comorbidity in Children with Neurofibromatosis Type 1: A Multi-Site Study.Cancers · 2026Article
- From the rare to the essential: analyzing the needs of physicians and families managing rare diseases.BMC health services research · 2026Article
- Bridging data gaps of rare conditions in ICU: a multi-disease adaptation approach for clinical prediction.NPJ digital medicine · 2026Article
- Deciphering the clinical and genetic spectrum of early-onset inborn errors of immunity in a Brazilian pediatric cohort.Frontiers in immunology · 2026Article
- Long-read sequencing and next-generation CRISPR editors: a unified pipeline for rare disease precision medicine with ethical and regulatory perspectives.Frontiers in medicine · 2026Review
- A survey of public attitudes toward secondary research governance oversight: Evidence from Singapore's TRUST platform.International journal of population data science · 2026Article
- Predictors of quality of life in parents of children with rare diseases: a tertiary care center cross-sectional study in Saudi Arabia.Frontiers in public health · 2026Article
- Health-related Quality of Life among Children Living with Rare Diseases in China: a Nationwide Study.Applied research in quality of life · 2026Article
- ZebraMap: A Multimodal Rare Disease Knowledge Map with Automated Data Aggregation & LLM-Enriched Information Extraction Pipeline.Diagnostics (Basel, Switzerland) · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rare diseases, also known as orphan diseases, are a group of disorders that affect a small percentage of the population. Despite individually affecting a small number of people, collectively, they impact millions worldwide. This is particularly significant in paediatric patients, highlighting the global scale of the issue. This review delves into the exact prevalence of rare diseases among children and adolescents and their diverse impact on the quality of life of patients and their families. The review sheds light on the complex interplay of genetic and environmental factors contributing to these conditions and the diagnostic challenges and delays often encountered in identifying and categorising these diseases. It is noted that although there have been significant strides in the field of genomic medicine and the development of orphan drugs, effective treatments remain limited. This necessitates a comprehensive, multidisciplinary approach to management involving various specialities working closely together to provide holistic care. Furthermore, the review addresses the psychosocial and economic burdens faced by families with paediatric patients suffering from rare diseases, highlighting the urgent need for enhanced support mechanisms. Recent technological and therapeutic advancements, including genomic sequencing and personalized medicine, offer promising avenues for improving patient outcomes. Additionally, the review underscores the role of policy and advocacy in advancing research, ensuring healthcare access, and supporting affected families. It emphasises the importance of increased awareness, education, and collaboration among healthcare providers, researchers, policymakers, and patient advocacy groups. It stresses the pivotal role each group plays in improving the diagnosis, treatment, and overall quality of life for paediatric patients with rare diseases.
Indexed as
Identifiers
What Socratic 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 Socratic graph.