[Clinical practice guidelines for Prader-Willi syndrome]

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.