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 developmental symptoms occur.
What is newborn screening?
Newborn screening is performed at birth in hospitals. Clinicians collect a small sample of blood through a heel stick, which can cause minor discomfort to the baby. The blood sample is placed on a special piece of paper and sent to a laboratory for analysis. The laboratory will test the sample for a number of serious health conditions.
Why is newborn screening important?
Most patients with Angelman syndrome do not have any symptoms at birth, and typically are nine months to six years old before doctors reach a diagnosis. Diagnosing children with the disease during the first weeks of life would allow for earlier intervention, which is important to help them reach their full potential. For example, early interventions can help children learn how to communicate through methods such as augmentative alternative communication.
Early diagnosis of diseases like Angelman syndrome in children can also assist parents with their future reproductive choices.
Early detection can be even more important in the future if gene therapy for Angelman syndrome becomes available. In gene therapy, currently an experimental treatment, a healthy copy of the disease-causing gene is introduced to cells using a harmless virus. Researchers believe that the new version of the gene could help reduce or eliminate symptoms of the disease.
Is Angelman syndrome part of newborn screening?
Angelman syndrome is currently not part of newborn screening, but efforts are underway to create an inexpensive method and have it added to standard newborn diagnostic tests.
A group in Australia is testing a newborn diagnostic method in 75,000 newborns. The method is called methylation specific-quantitative melt analysis, and aims to diagnose newborns with Angelman, Fragile X, Prader-Willi, and Dup15q syndromes.
Efforts in the U.S. and Europe are also looking to add Angelman syndrome and other rare diseases to standard newborn screening tests.
Several rare disease groups in the U.S. have been pushing for the renewal and expansion of an earlier bill to provide more funding for newborn testing.
Eurordis, a rare disease organization in Europe, urged lawmakers at the 10th European Conference on Rare Diseases & Orphan Products, to standardize newborn testing across countries to help with earlier diagnoses.
Last updated: Sept. 28, 2020
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