Spinal Muscular Atrophy: Awareness and Attitudes

Spinal Muscular Atrophy: Awareness and Attitudes

There is a paucity of information on awareness of and attitudes towards spinal muscular atrophy (SMA) and medical approaches to the disease.1,2 However, research into what is known about SMA has revealed that the public is largely unfamiliar with SMA, and even physicians and other healthcare providers have a limited understanding of it. Carrier and newborn screening, however, appear to be met with favorable reactions. Nonetheless, amongst the medical community, there is some disagreement about the extent to which carrier screening for SMA should be offered.

Clinician Attitudes Toward SMA Screening

Obstetricians appear to generally support carrier screening but to offer it rarely, suggesting a mismatch between clinician attitudes and actions.3  In 2009, the American College of Obstetrics and Gynecology (ACOG) recommended that carrier screening only be offered to those who have a family history of SMA or who specifically request the screening.4 The previous year, however, the American College of Medical Genetics (ACMG) had suggested that everyone should be offered carrier screening during pregnancy or prior to conception. The disagreement on universally offering SMA carrier screening by ACOG derived from a concern about a lack of data on patient preferences, cost effectiveness, counseling, and best practices.

Parental Attitudes Toward SMA Screening

Studies have shown that the majority of those who undergo genetic carrier screening, as well as sperm donors and recipients, are unaware of SMA.2,5 When provided with positive carrier status information, some recipients are appreciative, while others are frustrated that the screening had not been a part of the standard screening process. Nonetheless, most of those who choose to be screened report being happy with their decision.2 

Those who have declined carrier screening have cited a variety of reasons for their decision, including that a positive result would cause undue stress, that it would not affect their management of their pregnancy, that they did not want to know their carrier status, and that they did not have high anxiety about SMA. In the case of newborns, however, the vast majority of both parents of diagnosed children and expectant parents of unaffected children – over 92% – supported screening.6

Awareness and Attitudes: Looking Forward

There is some concern within the medical community that lack of knowledge about SMA amongst primary care physicians and obstetricians can delay prenatal diagnosis and lead to suboptimal care.1,7,8 Indeed, not only is there evidence of inadequate awareness of SMA amongst medical students and physicians, but there is also a discrepancy in how clinicians and caregivers rate quality of life for those with SMA, with caregivers generally believing quality of life to be better than do clinicians.8,9

Given that SMA screening is likely to become more common and that SMA patients require interdisciplinary teams of care providers, experts suggest that more research is needed to identify knowledge gaps and ensure that clinicians are armed with the education and tools they need to best help SMA patients and their families from the point of a positive carrier result through the management of the disease across patients’ lifespans.1,2,10 

References

1. Moultrie RR, Kish-Doto J, Peay H, Lewis MA. A Review on Spinal Muscular Atrophy: Awareness, Knowledge, and Attitudes. J Genet Couns. 2016;25(5):892-900. doi:10.1007/s10897-016-9955-8

2. Prior TW, Snyder PJ, Rink BD, et al. Newborn and carrier screening for spinal muscular atrophy. Am J Med Genet A. 2010;152A(7):1608-1616. doi:10.1002/ajmg.a.33474

3. Stark Z, Massie J, McClaren B, et al. Current practice and attitudes of Australian obstetricians toward population-based carrier screening for inherited conditions. Twin Res Hum Genet. 2013;16(2):601-607. doi:10.1017/thg.2012.152

4. Gitlin JM, Fischbeck K, Crawford TO, et al. Carrier testing for spinal muscular atrophy. Genet Med. 2010;12(10):621-622. doi:10.1097/GIM.0b013e3181ef6079

5. Callum P, Iger J, Ray M, Sims CA, Falk RE. Outcome and experience of implementing spinal muscular atrophy carrier screening  on sperm donors. Fertil Steril. 2010;94(5):1912-1914. doi:10.1016/j.fertnstert.2009.12.071

6. Wood MF, Hughes SC, Hache LP, et al. Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy. Muscle Nerve. 2014;49(6):822-828. doi:10.1002/mus.24100

7. Kesari A, Rennert H, Leonard DGB, Phadke SR, Mittal B. Prenatal diagnosis of spinal muscular atrophy: Indian scenario. Prenat Diagn. 2005;25(8):641-644. doi:10.1002/pd.1212

8. Bach JR, Vega J, Majors J, Friedman A. Spinal muscular atrophy type 1 quality of life. Am J Phys Med Rehabil. 2003;82(2):137-142. doi:10.1097/01.PHM.0000046622.57204.05

9. de Silva D, Jayasekera KM, Rubasinghe NK, de Silva DG. Attitudes towards genetic counselling and testing among medical students and newly qualified doctors. Ceylon Med J. 1997;42(3):129-132.

10. Phan HC, Taylor JL, Hannon H, Howell R. Newborn screening for spinal muscular atrophy: Anticipating an imminent need. Semin Perinatol. 2015;39(3):217-229. doi:10.1053/j.semperi.2015.03.006