Early Diagnosis in Prader-Willi Syndrome Reduces Obesity and Associated Co-Morbidities

Area of Science:

• Genetics
• Pediatrics
• Endocrinology

Background:

• Prader-Willi syndrome (PWS) is a genetic imprinting disorder affecting the 15q11-q13 region.
• Growth hormone (GH) therapy improves stature and body composition in PWS patients.

Purpose of the Study:

• To investigate if early diagnosis of PWS delays the onset of obesity.
• To determine the influence of age at diagnosis, ethnicity, gender, and molecular class on obesity onset and hyperphagia in PWS.

Main Methods:

• A cohort of 352 individuals with PWS was analyzed.
• Data on age at diagnosis, ethnicity, gender, PWS molecular class, age of becoming heavy, and onset of increased appetite were collected.
• Statistical analysis was performed to identify significant factors.

Main Results:

• Median age of becoming heavy was significantly influenced by age at diagnosis (<1 year: 10 years; 1-3 years: 6 years; >3 years: 4 years).
• Age at diagnosis (p < 0.01) and ethnicity were significant factors; gender and molecular class were not.
• Non-white individuals experienced an earlier onset of becoming heavy.

Conclusions:

• Early diagnosis of PWS is crucial for delaying the onset of obesity.
• Timely diagnosis allows for earlier GH and other treatments, reducing risks of obesity-related comorbidities.
• Ethnicity is a significant factor in the onset of obesity in PWS.