ReviewOrphanet journal of rare diseases2022
Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China.
Review 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 9 papers.
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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.
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Who cites it
9 citing papers in PubMed.
- Early identification of Prader-Willi syndrome in newborns using facial phenotype-based machine learning.Pediatric research · 2026Article
- Optimal timing of recombinant growth hormone therapy in Prader-Willi syndrome: the case for very early initiation.Frontiers in endocrinology · 2026Article
- Molecular characterization of imprinting disorders: Beckwith-Wiedemann, Silver-Russell, and Prader-Willi syndromes in Egyptian patients.BMC pediatrics · 2025Article
- The influence of genotype makeup on the effectiveness of growth hormone therapy in children with Prader-Willi syndrome.BMC pediatrics · 2024Article
- [Early diagnosis and intervention for prepubertal short stature children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Review
- Early psychomotor development and growth hormone therapy in children with Prader-Willi syndrome: a review.European journal of pediatrics · 2024Review
- Complex Cardiovascular Morbidities in Prader-Willi Syndrome: A Multidisciplinary Approach.Cureus · 2024Article
- Evaluating the effect of recombinant human growth hormone treatment on sleep-related breathing disorders in toddlers with Prader-Willi syndrome: a one-year retrospective cohort study.BMC pediatrics · 2024Article
- Prader-Willi and Angelman Syndromes: Mechanisms and Management.The application of clinical genetics · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Prader-Willi syndrome (PWS) is a complex and multisystem neurobehavioral disease, which is caused by the lack of expression of paternally inherited imprinted genes on chromosome15q11.2-q13.1. The clinical manifestations of PWS vary with age. It is characterized by severe hypotonia with poor suck and feeding difficulties in the early infancy, followed by overeating in late infancy or early childhood and progressive development of morbid obesity unless the diet is externally controlled. Compared to Western PWS patients, Chinese patients have a higher ratio of deletion type. Although some rare disease networks, including PWS Cooperation Group of Rare Diseases Branch of Chinese Pediatric Society, Zhejiang Expert Group for PWS, were established recently, misdiagnosis, missed diagnosis and inappropriate intervention were usually noted in China. Therefore, there is an urgent need for an integrated multidisciplinary approach to facilitate early diagnosis and optimize management to improve quality of life, prevent complications, and prolong life expectancy. Our purpose is to evaluate the current literature and evidences on diagnosis and management of PWS in order to provide evidence-based guidelines for this disease, specially from China.
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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.