Delay of Diagnosis for Prader-Willi Syndrome

Evelien Gevers, MD, pediatric endocrinologist at Barts Health and Queen Mary University of London, discusses the delay in diagnosis for Prader-Willi syndrome.
Prader-Willi syndrome (PWS) is a rare genetic condition that affects many parts of the body. Infants with PWS have severe hypotonia, feeding difficulties, and slow growth. Other signs and symptoms often include short stature, hypogonadism, developmental delays, cognitive impairment, and distinctive behavioral characteristics such as temper tantrums, stubbornness, and obsessive-compulsive tendencies. PWS is caused by missing or non-working genes on chromosome 15. Most cases are not inherited and occur randomly. Rarely, a genetic change responsible for PWS can be inherited.
Current management for these patients include feeding tubes and growth hormone medications. As Dr. Gevers explains, these therapies help to reduce fat mass while increasing muscle mass.
Based on an analysis looking at the age of diagnosis, it was observed that from the 1960s to 2015, there was a decrease of diagnoses above the age of 1. However, from 2015 to 2020 that trend seemed to increase, indicating that there is a rise in delayed diagnosis for this condition. From this, it was discovered that requests for the wrong diagnostic test may be contributing to the delay. Guidelines suggest that patients should be diagnosed within the first few weeks of life.
Chapters:
Prader-Willi Syndrome Overview 00:00
Diagnostic Journey 1:51
Current Management 2:29
Delayed Diagnosis Study at ENDO 4:11