title: Newborn screening for spinal muscular atrophy: Anticipating an imminent need.
abstract: Spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality. Children with type I SMA typically die by the age of 2 years. Recent progress in gene modification and other innovative therapies suggest that improved outcomes may soon be forthcoming. In animal models, therapeutic intervention initiated before the loss of motor neurons alters SMA phenotype and increases lifespan. Presently, supportive care including respiratory, nutritional, physiatry, and orthopedic management can ameliorate clinical symptoms and improve survival rates if SMA is diagnosed early in life. Newborn screening could help optimize these potential benefits. A recent report demonstrated that SMA detection can be multiplexed at minimal additional cost with the assay for severe combined immunodeficiency, already implemented by many newborn screening programs. The public health community should remain alert to the rapidly changing developments in early detection and treatment of SMA.
authors.affiliation: Department of Pediatrics, Emory University, Atlanta, GA. Electronic address: Han.phan@emory.edu.
authors.forename: Han C
authors.initials: HC
authors.lastname: Phan
authors.affiliation: Research Scientist, Atlanta, GA.
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Taylor
authors.affiliation: Newborn Screening Consensus Committee, Clinical and Laboratory Standards Institute (CLSI), Wayne, PA.
authors.forename: Harry
authors.initials: H
authors.lastname: Hannon
authors.affiliation: Miller School of Medicine, University of Miami, Miami, FL.
authors.forename: Rodney
authors.initials: R
authors.lastname: Howell
mesh_terms: D059788:Dried Blood Spot Testing / Q000379:methods*; D006580:Genetic Carrier Screening; D005820:Genetic Testing / Q000379:methods*; D006301:Health Services Needs and Demand; D006801:Humans; D007231:Infant, Newborn; D058990:Molecular Targeted Therapy / Q000639:trends*; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis*; D015997:Neonatal Screening / Q000379:methods / Q000458:organization & administration / Q000639:trends; D011379:Prognosis; D055533:Survival of Motor Neuron 1 Protein / Q000097:blood / Q000235:genetics
chemical_list: D055533:Survival of Motor Neuron 1 Protein
keywords: Newborn screening; Spinal muscular atrophy