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.

Complex Cardiovascular Morbidities in Prader-Willi Syndrome: A Multidisciplinary Approach

“…The diagnosis of PWS is based on clinical criteria and confirmed by genetic testing [2]. The management of PWS involves addressing various health issues as they arise, such as growth hormone deficiency, hypogonadism, obesity, diabetes mellitus, sleep apnea, behavioral problems, and cardiovascular complications [14,15]. There is no cure for PWS, and the current treatments are mainly symptomatic and supportive [16].…”

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

“…While early diagnosis is possible with advancements in science and technology, there is currently no established cure for the disease. However, an integrated multidisciplinary approach, including the use of the synthetic version of the recombinant human growth hormone (rhGH), development therapy, and occupational therapy, is recommended to minimize complications, improve quality of life, and increase life expectancy [ 2 ].…”

Clinical case of a patient with Prader - Willi syndrome

“…и др. Клиническое наблюдение за пациентом с синдромом Прадера-Вилли Синдром Прадера-Вилли (СПВ) представляет собой мультисистемное заболевание, которое характеризуется нарушением развития нервной системы и вызвано отсутствием экспрессии унаследованных от отца импринтинговых генов, расположенных на длинном плече 15-й хромосомы в области q11.2-q13.1 [1,2]. Геномный импринтинг -это эпигенетическое явление, при котором фенотип изменяется в зависимости от пола родителя, передающего аллель гена, и возникает в результате эпигенетических изменений.…”