Question:
Female, 3.5 years old, UPD subtype
Hello, I’m from Ontario Canada. We just received a diagnosis a couple of weeks ago. I see most of the children on this support group are being diagnosed within weeks of birth. Is PWS routine testing with your newborn screen? Just curious as I knew something was wrong from the start and was told she’s fine. Thank you.
Nurse Lynn’s Response:
The average age of diagnosis for PWS varies by country, region, and state. Advances in genetic testing like DNA methylation analysis and increased awareness have significantly lowered the average age of diagnosis, often to 0–2 years.
While PWS is not currently included in the U.S. Uniform Newborn Screening Panel, screening for related conditions that present with low muscle tone and failure to thrive can reduce misdiagnoses and delays in treatment. Research strongly supports adding PWS to newborn screening programs due to the clear benefits of early diagnosis and intervention for affected infants and their families.
PWSA | USA advocates for robust, well-funded newborn screening programs in every state. We urge lawmakers to prioritize early detection of conditions like PWS and encourage states to adopt the Uniform Newborn Screening Panel. PWSA | USA will continue to advocate for screening in states that do not currently test for all 35 disorders included in the panel.
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Jennifer Bolander has been serving as a Special Education Specialist for PWSA (USA) since October of 2015. She is a graduate of John Carroll University and lives in Ohio with her husband Brad and daughters Kate (17), and Sophia (13) who was born with PWS.
Perry A. Zirkel has written more than 1,500 publications on various aspects of school law, with an emphasis on legal issues in special education. He writes a regular column for NAESP’s Principal magazine and NASP’s Communiqué newsletter, and he did so previously for Phi Delta Kappan and Teaching Exceptional Children.
Evan has worked with the Prader-Willi Syndrome Association (USA) since 2007 primarily as a Crisis Intervention and Family Support Counselor. Evans works with parents and schools to foster strong collaborative relationships and appropriate educational environments for students with PWS.
Dr. Amy McTighe is the PWS Program Manager and Inpatient Teacher at the Center for Prader-Willi Syndrome at the Children’s Institute of Pittsburgh. She graduated from Duquesne University receiving her Bachelor’s and Master’s degree in Education with a focus on elementary education, special education, and language arts.
Staci Zimmerman works for Prader-Willi Syndrome Association of Colorado as an Individualized Education Program (IEP) consultant. Staci collaborates with the PWS multi-disciplinary clinic at the Children’s Hospital in Denver supporting families and school districts around the United States with their child’s Individual Educational Plan.
Founded in 2001, SDLC is a non-profit legal services organization dedicated to protecting and advancing the legal rights of people with disabilities throughout the South. It partners with the Southern Poverty Law Center, Protection and Advocacy (P&A) programs, Legal Services Corporations (LSC) and disability organizations on major, systemic disability rights issues involving the Individuals with Disabilities Education Act (IDEA), Americans with Disabilities Act (ADA), and the federal Medicaid Act. Recently in November 2014, Jim retired.