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[Clinical practice guidelines for Prader-Willi syndrome]

Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association1, Chuan Li, Bobo Xie

  • 1Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530000, China. yiping.shen@childrens.harvard.edu.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|March 5, 2020
PubMed

Insights

Prader-Willi syndrome (PWS), a genetic imprinting defect, presents varied symptoms from infancy to adulthood, including developmental delays and obesity. Early diagnosis and intervention are crucial for managing PWS and improving patient outcomes.

Area of Science:

  • Genetics
  • Developmental Biology
  • Pediatrics

Background:

  • Prader-Willi syndrome (PWS) is the first identified multi-systemic genetic disorder resulting from an imprinting defect.
  • Clinical manifestations of PWS are age-dependent, affecting individuals from prenatal stages through adulthood.

Purpose of the Study:

  • To provide a comprehensive guideline on Prader-Willi syndrome.
  • To aid clinicians in early identification, intervention, and genetic counseling for PWS patients.

Main Methods:

  • The guideline synthesizes information on PWS clinical manifestations across different age groups.
  • It covers the developmental trajectory, pathogenesis, molecular diagnostic methods, and genetic counseling strategies for PWS.

Main Results:

  • Prenatal symptoms include decreased fetal movements; neonatal signs involve hypotonia and feeding difficulties.
  • Infancy and childhood are marked by growth retardation, developmental delays, and cognitive deficits.
  • Adolescence presents with severe growth retardation, obesity, gonadal dysplasia, behavioral issues, and learning difficulties, with morbid obesity significantly impacting prognosis.

Conclusions:

  • Early diagnosis and timely intervention are critical for improving the quality of life, preventing complications, and enhancing survival rates in PWS.
  • This guideline serves as a reference for healthcare professionals managing Prader-Willi syndrome.

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