title: A Review on Spinal Muscular Atrophy: Awareness, Knowledge, and Attitudes.
abstract: Spinal Muscular Atrophy (SMA) is one of the most common genetic causes of infant death. There is presently no cure, but the therapeutic pipeline is promising. Given the prevalence of SMA coupled with the potential for new treatment options, universal carrier screening, and newborn screening, we conducted a literature review of the awareness, knowledge, and attitudes held by the public and non-geneticist clinicians about various aspects of SMA. We then identify recommendations for targeting additional research, training, and educational efforts to increase awareness. In the limited available literature, we found that the public is generally unfamiliar with SMA but has favorable views of carrier and newborn screening. Clinicians also had limited understanding of SMA. Further research into knowledge and attitudes of healthcare providers and the general public will help develop a better understanding of education gaps and inform outreach efforts. These educational efforts are needed to complement the momentum as treatments are being developed and tested. Furthermore, professional societies are proposing routine carrier screening and SMA may achieve newborn screening status, which will change the SMA landscape for genetics professionals and families. Thus, it is important to explore knowledge and attitudes about SMA to allow us to prepare for when SMA attains higher public and clinician recognition.
authors.affiliation: Center for Communication Science, RTI International, 3040 E. Cornwallis Road, P.O. Box 12194, Research Triangle Park, NC, 27709, USA. munch@rti.org.
authors.forename: Rebecca R
authors.initials: RR
authors.lastname: Moultrie
authors.affiliation: Center for Communication Science, RTI International, Rockville, MD, USA.
authors.forename: Julia
authors.initials: J
authors.lastname: Kish-Doto
authors.affiliation: Education and Workforce Development, RTI International, Research Triangle Park, NC, USA.
authors.forename: Holly
authors.initials: H
authors.lastname: Peay
authors.affiliation: Center for Communication Science, RTI International, 3040 E. Cornwallis Road, P.O. Box 12194, Research Triangle Park, NC, 27709, USA.
authors.forename: Megan A
authors.initials: MA
authors.lastname: Lewis
mesh_terms: D007722:Health Knowledge, Attitudes, Practice; D006282:Health Personnel / Q000193:education / Q000523:psychology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009134:Muscular Atrophy, Spinal / Q000523:psychology*; D015997:Neonatal Screening; D010353:Patient Education as Topic; D010361:Patients / Q000523:psychology
keywords: Awareness; Beliefs; Carrier screening; Clinicians; Knowledge; Newborn screening; Public; SMA; Spinal muscular atrophy