A Historical and Current Review of Newborn Screening for Neuromuscular Disorders From Around the World: Lessons for the United States

Pediatric Neurology
Lainie Friedman Ross, A J Clarke

Abstract

We aimed to review the history of newborn screening for three neuromuscular disorders (Duchenne muscular dystrophy, Pompe disease, and spinal muscular atrophy [SMA]) to determine best practices. The history of newborn screening for Duchenne muscular dystrophy began in 1975 with the measurement of creatinine kinase on newborn male blood spots from two Midwestern hospitals in the United States. Over the next 40 years, ten programs were implemented around the globe although none currently remain. The first experimental pilot program for Pompe disease began in 2005 in Taiwan. In 2013, Missouri was the first US state to implement Pompe newborn screening before its inclusion in the Recommended Uniform Screening Panel (RUSP) in 2015 by the Advisory Committee on Heritable Disorders in Newborns and Children (United States). In 2008, SMA was reviewed and rejected for inclusion in the RUSP because no treatment existed. With the approval of nusinersen in late 2016, spinal muscular atrophy is being reconsidered for the RUSP. A condition should meet public health screening criteria to be included in the RUSP. Duchenne muscular dystrophy, Pompe, and SMA challenge traditional screening criteria: Duchenne muscular dystrophy does not present in ...Continue Reading

Citations

Apr 4, 2019·Médecine sciences : M/S·Vincent LaugelSandrine Segovia-Kueny
Feb 15, 2019·Journal of Inherited Metabolic Disease·Jeannette C BleekerGepke Visser
Jun 22, 2019·Expert Review of Clinical Pharmacology·Federica RicciTiziana Mongini
Sep 18, 2020·Expert Review of Neurotherapeutics·Corrado AngeliniSabrina Sacconi
Jun 27, 2019·Central European Journal of Public Health·Jan DavidFelix Votava
Mar 30, 2018·Journal of Inherited Metabolic Disease·B PruniskiN Ali
Jun 28, 2018·Journal of Community Genetics·Angus J Clarke, Carina Wallgren-Pettersson
Aug 3, 2019·NeoReviews·Lainie Friedman Ross, Jennifer M Kwon
Oct 20, 2020·Journal of Community Genetics·Martina C CornelLidewij Henneman
Mar 1, 2020·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Gian Luca Vita, Giuseppe Vita
Sep 24, 2021·Pflügers Archiv : European journal of physiology·Kay Ohlendieck, Dieter Swandulla

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Current Opinion in Pediatrics
Alex R Kemper, Melissa A Wake
Archives of Disease in Childhood
E P ParsonsA J Clarke
Mental Retardation and Developmental Disabilities Research Reviews
Rodney R Howell, Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie
D Lacombe, A Verloes
© 2022 Meta ULC. All rights reserved