Genetic test leads to diagnosis of boy with atypical Angelman symptoms

Despite having few signs and symptoms of Angelman syndrome (AS), an infant boy was eventually diagnosed by genetic testing as a result of his nonspecific developmental delays and unexplained low muscle tone, according to a case study. “This report is a good example for giving clinicians a lower threshold…

Newborn Screening for Angelman Syndrome

Early diagnosis is imperative to provide patients with necessary treatments and interventions for the best possible outcomes. Newborn screening would allow parents to find out whether their baby has a rare disease such as Angelman syndrome within weeks of birth, instead of having to wait months or years until…