Jeffrey Chung1, Andrea L Smith1, Sarah C Hughes1, Gabriela Niizawa1, Hoda Z Abdel-Hamid2, Edwin W Naylor3, Timothy Hughes4, Paula R Clemens1,5. 1. Department of Neurology, University of Pittsburgh, S520 Biomedical Science Tower, 200 Lothrop Street, Pittsburgh, Pennsylvania, 15213, USA. 2. Department of Pediatrics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA. 3. Department of Pediatrics, Medical University of South Carolina, Charleston, South Carolina, USA. 4. Department of Internal Medicine, School of Medicine, Wake Forest University, Winston-Salem, North Carolina, USA. 5. Neurology Service, Department of Veterans Affairs Medical Center, Pittsburgh, Pennsylvania, USA.
Abstract
INTRODUCTION: An opt-out newborn screening (NBS) program for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) was implemented at 2 hospitals in Pittsburgh, Pennsylvania, between 1987 and 1995. METHODS: For patients and their parents in families who received a diagnosis of DMD or BMD, either by NBS or by traditional diagnostics after symptom onset, attitudes toward NBS for DMD and BMD were assessed. RESULTS: All patients and most parents supported NBS for DMD and BMD. In contrast to the NBS parent cohort, the non-NBS cohort felt that diagnosis by NBS would cause anxiety. CONCLUSIONS: There was strong support of NBS for DMD and BMD in both patients and their parents in families who received a diagnosis through NBS or through traditional diagnostics. No negative psychosocial impacts of NBS were identified among those families who received a diagnosis through NBS.
INTRODUCTION: An opt-out newborn screening (NBS) program for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) was implemented at 2 hospitals in Pittsburgh, Pennsylvania, between 1987 and 1995. METHODS: For patients and their parents in families who received a diagnosis of DMD or BMD, either by NBS or by traditional diagnostics after symptom onset, attitudes toward NBS for DMD and BMD were assessed. RESULTS: All patients and most parents supported NBS for DMD and BMD. In contrast to the NBS parent cohort, the non-NBS cohort felt that diagnosis by NBS would cause anxiety. CONCLUSIONS: There was strong support of NBS for DMD and BMD in both patients and their parents in families who received a diagnosis through NBS or through traditional diagnostics. No negative psychosocial impacts of NBS were identified among those families who received a diagnosis through NBS.
Authors: David J Birnkrant; Katharine Bushby; Carla M Bann; Susan D Apkon; Angela Blackwell; David Brumbaugh; Laura E Case; Paula R Clemens; Stasia Hadjiyannakis; Shree Pandya; Natalie Street; Jean Tomezsko; Kathryn R Wagner; Leanne M Ward; David R Weber Journal: Lancet Neurol Date: 2018-02-03 Impact factor: 44.182
Authors: Alison M Barnard; Samuel L Riehl; Rebecca J Willcocks; Glenn A Walter; Amber M Angell; Krista Vandenborne Journal: J Neuromuscul Dis Date: 2020