How is Prader-Willi syndrome (PWS) Diagnosed?
DiagnosisDoctors make an initial diagnosis of Prader-Willi syndrome based on physical symptoms. Often a diagnosis is made at a baby’s birth, but children with mild symptoms may be diagnosed at an older age. Genetic testing must be done to confirm the diagnosis. A sample of blood or saliva will be collected.
Types of genetic tests include:
- DNA methylation testing. Usually, the first genetic test done, it detects Prader-Willi syndrome in more than 99 percent of cases.
- High-resolution microarrays. These tests determine more precisely the problem with chromosome 15 that is causing an individual’s Prader-Willi syndrome. They can help determine if the parents have an increased risk of having another child with Prader-Willi syndrome.
How is Prader-Willi Syndrome Treated?
TreatmentThere is no cure for Prader-Willi syndrome, but there are many ways to manage symptoms. A team of specialists will develop a treatment plan. The healthcare team could include a clinical geneticist, pediatrician, orthopedist, endocrinologist, speech therapist, psychologist, dietician, nutritionist, etc.
Therapies vary depending on an individual’s symptoms and how severe they are. Approaches used for treatment of Prader-Willi syndrome that can help ensure a good quality of life include:
- Growth hormone therapy to increase height, decrease body fat, improve muscle tone and improve bone density
- Early intervention to assess motor skills, cognition, and speech and language development and provide physical and occupational therapy and other services as needed, including an individualized education plan at school
- Low-calorie diet, regular exercise, and supervised eating to manage weight while ensuring proper nutrition, ideally before signs of obesity develop
- Sex hormone replacement at puberty to develop secondary sexual characteristics and improve bone density
Trust NewYork-Presbyterian for Prader-Willi Syndrome Treatment
Recognizing the symptoms of Prader-Willi syndrome is the first step toward diagnosing this rare genetic disorder. Schedule an appointment with NewYork-Presbyterian to gain access to the specialists who provide genetic testing, treatment, and improved quality of life for infants and children with Prader-Willi syndrome.