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Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening: Essential Steps.
Baker, Mei; Griggs, Robert; Byrne, Barry; Connolly, Anne M; Finkel, Richard; Grajkowska, Lucja; Haidet-Phillips, Amanda; Hagerty, Laura; Ostrander, Robert; Orlando, Lianna; Swoboda, Kathryn; Watson, Michael; Howell, R Rodney.
Afiliação
  • Baker M; University of Wisconsin School of Medicine, Madison.
  • Griggs R; University of Rochester School of Medicine, Rochester, New York.
  • Byrne B; University of Florida, Gainesville.
  • Connolly AM; Washington University School of Medicine in St Louis, St Louis, Missouri.
  • Finkel R; Nemours Children's Hospital, Orlando, Florida.
  • Grajkowska L; Muscular Dystrophy Association, New York, New York.
  • Haidet-Phillips A; Muscular Dystrophy Association, New York, New York.
  • Hagerty L; Muscular Dystrophy Association, New York, New York.
  • Ostrander R; State University of New York Upstate Medical University, Rushville.
  • Orlando L; Muscular Dystrophy Association, New York, New York.
  • Swoboda K; Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.
  • Watson M; American College of Medical Genetics and Genomics, Bethesda, Maryland.
  • Howell RR; University of Miami Miller School of Medicine, Miami, Florida.
JAMA Neurol ; 76(8): 978-983, 2019 Aug 01.
Article em En | MEDLINE | ID: mdl-31107518
IMPORTANCE: Newborn screening (NBS) identifies infants with specific congenital disorders for which earlier intervention cannot only prevent a lifetime of chronic disability but also, most importantly, save lives. In this article, we discuss complexities associated with NBS processes in the United States, with a focus on challenges in neuromuscular disorders. OBSERVATIONS: As new interventions for neuromuscular disorders become available, the clinical community must prepare to overcome the challenges of adding new diseases to screening panels and understand the rigorous evidence review at the federal level and the complex process of state-level implementation. In this regard, NBS programs for Pompe disease and spinal muscular atrophy can guide the path of Duchenne muscular dystrophy and other neuromuscular disorders as future candidates for NBS. CONCLUSIONS AND RELEVANCE: The availability of advanced screening methods, the emergence of effective treatment, and the support of professional organizations may facilitate the expansion of NBS, such that an increasing number of infants can be identified in the newborn period who will benefit from life-saving interventions.

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Screening_studies Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Screening_studies Idioma: En Ano de publicação: 2019 Tipo de documento: Article