ArticleGenes2021
Heritable Connective Tissue Disorders in Childhood: Increased Fatigue, Pain, Disability and Decreased General Health.
Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
What it found
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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
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Fatigue in patients with syndromic heritable thoracic aortic disease: a systematic review of the literature and a qualitative study of patients' experiences and perceptions.Orphanet journal of rare diseases · 2023Pooled it
- Article
- Characteristics of Pain in Patients Diagnosed With Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders. An Observational Study.Pain research & management · 2026Observational
- Phenotyping Fatigue Profiles in Marfan Syndrome Through Cluster Analysis: A Cross-Sectional Study of Psychosocial and Clinical Correlates.Journal of clinical medicine · 2025Article
- The Relationship Between Fatigue, Pain Interference, Pain-Related Distress, and Avoidance in Pediatric Hypermobile Ehlers-Danlos Syndrome.Children (Basel, Switzerland) · 2025Article
- Observational
- Exploring signs of central sensitization in adolescents with hypermobility Spectrum disorder or hypermobile Ehlers-Danlos syndrome.European journal of pain (London, England) · 2025Article
- Physical fitness in children with Marfan and Loeys-Dietz syndrome: associations between cardiovascular parameters, systemic manifestations, fatigue, and pain.European journal of pediatrics · 2024Observational
- Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care.Journal of cardiovascular development and disease · 2024Review
- Prevalence and associations of fatigue in childhood atopic dermatitis: A cross-sectional study.Journal of the European Academy of Dermatology and Venereology : JEADV · 2023Observational
- Physical activity and physical fitness in children with heritable connective tissue disorders.Frontiers in pediatrics · 2023Article
- A cross-sectional study on fatigue, anxiety, and symptoms of depression and their relation with medical status in adult patients with Marfan syndrome. Psychological consequences in Marfan syndrome.Clinical genetics · 2022Article
- Pain and fatigue in adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome, a questionnaire-based study.American journal of medical genetics. Part A · 2022Article
- Heritable connective tissue disorders in childhood: Decreased health-related quality of life and mental health.American journal of medical genetics. Part A · 2022Observational
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Heritable Connective Tissue Disorders (HCTD) show an overlap in the physical features that can evolve in childhood. It is unclear to what extent children with HCTD experience burden of disease. This study aims to quantify fatigue, pain, disability and general health with standardized validated questionnaires.
methodsThis observational, multicenter study included 107 children, aged 4-18 years, with Marfan syndrome (MFS), 58%; Loeys-Dietz syndrome (LDS), 7%; Ehlers-Danlos syndromes (EDS), 8%; and hypermobile Ehlers-Danlos syndrome (hEDS), 27%. The assessments included PROMIS Fatigue Parent-Proxy and Pediatric self-report, pain and general health Visual-Analogue-Scales (VAS) and a Childhood Health Assessment Questionnaire (CHAQ).
resultsCompared to normative data, the total HCTD-group showed significantly higher parent-rated fatigue T-scores (
conclusionsCompared to normative data, children and adolescents with HCTD reported increased fatigue, pain, disability and decreased general health, with most differences translating into very large-sized effects. This new knowledge calls for systematic monitoring with standardized validated questionnaires, physical assessments and tailored interventions in clinical care.
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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.