Some Questions about Prader-Willi Syndrome
How is Prader-Willi syndrome diagnosed?
Diagnosis is usually done via a simple physical examination and genetic testing. Your doctor will look for classic signs of Prader-Willi, such as floppiness or weakness, distinct facial characteristics, and excessive weight gain in young children. Your doctor may also order genetic blood testing to detect problems with chromosome 15.
What are the chances of having more than one child with PWS?
If you have a child with Prader-Willis syndrome, the probability of having another child with the syndrome is less than 1%. In most cases, the syndrome usually occurs due to a random genetic change during reproduction.
Can PWS be diagnosed before a child is born?
Yes, Prader-Willi syndrome can be diagnosed before a child is born. Your doctor may recommend a diagnostic methylation test if you develop symptoms that your baby may have PWS. Possible signs to look out for include decreased movements, intrauterine growth restriction, and an increase in your baby’s head-to-abdomen ratio.
What support is available for people with PWS and their families?
You can check out the Prader-Willi Syndrome Association for support organizations that help people live with the condition. Your doctor may also recommend local support resources and groups.