Newborn screening for spinal muscular atrophy: Anticipating an imminent need

• Published in: Seminars in perinatology Vol. 39; no. 3; pp. 217 - 229
• Main Authors: Phan, Han C., MD, Taylor, Jennifer L., PhD, Hannon, Harry, PhD, Howell, Rodney, MD, FAAP, FACMG
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.04.2015
• Subjects: Dried Blood Spot Testing - methods; Genetic Carrier Screening; Genetic Testing - methods; Health Services Needs and Demand; Humans; Infant, Newborn; Molecular Targeted Therapy - trends; Muscular Atrophy, Spinal - diagnosis; Neonatal and Perinatal Medicine; Neonatal Screening - methods; Neonatal Screening - organization & administration; Neonatal Screening - trends; Newborn screening; Prognosis; Spinal muscular atrophy; Survival of Motor Neuron 1 Protein - blood; Survival of Motor Neuron 1 Protein - genetics; DcPS; single nucleotide polymorphism(s); SACHDNC; high-resolution melting analysis; adeno-associated virus; SCID; multiplex ligation probe amplification; restriction fragment length polymorphism; DBS; SNP; Newborn screening; newborn blood spot screening; spinal muscular atrophy; ASO; NBS; RFLP; lock nucleic acid; T-cell receptor excision circle(s); DHPLC; scAAV; SMA; Secretary of Health and Human Services’ Advisory Committee on Heritable Diseases in Newborns and Children; survivor motor neuron; SSCP; human scavenger decapping enzyme; severe combined immunodeficiency; single-strand conformation polymorphism; NBSTRN; MLPA; dried blood spot(s); SMN; AAV; self-complimentary-associated adenovirus; antisense oligonucleotides; TREC; Newborn Screening Translational Research Network; LNA; denaturing high-performance liquid chromatography; HRMA; Spinal muscular atrophy
• ISSN: 0146-0005; 1558-075X
• DOI: 10.1053/j.semperi.2015.03.006

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.