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

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.

Keywords: Child; China; Diagnosis; Guidelines; Management; Prader-Willi syndrome.

Fig. 1

Algorithm for genetic testing for Prader-Willi syndrome. MS-MLPA, methylation-specific-multiplex ligation probe amplification; FISH, fluorescence in situ hybridization; IC, imprinting center; SNP, single nucleotide polymorphism; mUPD, maternal uniparental disomy