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Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China.

Authors :
Yang-Li, Dai
Fei-Hong, Luo
Hui-Wen, Zhang
Ming-Sheng, Ma
Xiao-Ping, Luo
Li, Liu
Yi, Wang
Qing, Zhou
Yong-Hui, Jiang
Chao-Chun, Zou
PWS Cooperation Group of Rare Diseases Branch of Chinese Pediatric Society
Xiao-Ou, Shan
Yu, Yang
Hui-Feng, Zhang
Zhi-Liang, Tian
Bo, Sun
Mei, Lu
Ya-Ying, Cheng
Ying, Yang
Xiong-Ying, Yu
Source :
Orphanet Journal of Rare Diseases; 6/13/2022, Vol. 17 Issue 1, p1-13, 13p
Publication Year :
2022

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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
17501172
Volume :
17
Issue :
1
Database :
Complementary Index
Journal :
Orphanet Journal of Rare Diseases
Publication Type :
Academic Journal
Accession number :
157411304
Full Text :
https://doi.org/10.1186/s13023-022-02302-z