Early diagnosis allows the possibility of starting treatment at a young age to achieve better outcomes
Rapid advances in technology and novel disease-modifying treatments will increase demands for early diagnosis and screening for many severe childhood conditions. This is exemplified by spinal muscular atrophy (SMA).
The full article is accessible to AMA members and paid subscribers. Login to read more or purchase a subscription now.
Please note: institutional and Research4Life access to the MJA is now provided through Wiley Online Library.
- 1. Farrar MA, Vucic S, Johnston HM, et al. Pathophysiological insights derived by natural history and motor function of spinal muscular atrophy. J Pediatr 2013; 162: 155-159.
- 2. Feldkötter M, Schwarzer V, Wirth R, et al. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 2002; 70: 358-368.
- 3. Lefebvre S, Bürglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995; 80: 155-165.
- 4. Monani UR, Lorson CL, Parsons DW, et al. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 1999; 8: 1177-1183.
- 5. Sugarman EA, Nagan N, Zhu H, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of > 72,400 specimens. Eur J Hum Genet 2012; 20: 27-32.
- 6. Farrar MA, Teoh HL, Carey KA, et al. Nusinersen for SMA: expanded access programme. J Neurol Neurosurg Psychiatry 2018. doi: 10.1136/jnnp-2017-317412 [Epub ahead of print].
- 7. Farrar MA, Park SB, Vucic S, et al. Emerging therapies and challenges in spinal muscular atrophy. Ann Neurol 2017; 81: 355-368.
- 8. Finkel RS, Mercuri E, Darras BT, et al. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med 2017; 377: 1723-1732.
- 9. Bertini E, Hwu WL, Reyna SP, et al. Efficacy and safety of nusinersen in infants with presymptomatic spinal muscular atrophy (SMA): interim results from the NURTURE study. Eur J Paediatr Neurol 2017; 21: e14.
- 10. Wilson JM, Jungner G. Principles and practice of screening for disease. Public health papers no. 34. Geneva: World Health Organization; 1968. http://apps.who.int/iris/bitstream/10665/37650/17/WHO_PHP_34.pdf (viewed June 2018).
- 11. Swoboda KJ, Prior TW, Scott CB, et al. Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Ann Neurol 2005; 57: 704-712.
- 12. Rothwell E, Anderson RA, Swoboda KJ, et al. Public attitudes regarding a pilot study of newborn screening for spinal muscular atrophy. Am J Med Genet A 2013; 161a: 679-686.
- 13. Taylor JL, Lee FK, Yazdanpanah GK, et al. Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency. Clin Chem 2015; 61: 412-419.
- 14. Phan HC, Taylor JL, Hannon H, Howell R. Newborn screening for spinal muscular atrophy: anticipating an imminent need. Semin Perinatol 2015; 39: 217-229.
- 15. Verhaart IE, Robertson A, Wilson IJ, et al. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy — a literature review. Orphanet J Rare Dis 2017; 12: 124.
- 16. Boardman FK, Young PJ, Griffiths FE. Population screening for spinal muscular atrophy: a mixed methods study of the views of affected families. Am J Med Genet A 2017; 173: 421-434.
- 17. Rowe H, Holton S, Kirkman M, et al. Prevalence and distribution of unintended pregnancy: the Understanding Fertility Management in Australia National Survey. Aust N Z J Public Health 2016; 40: 104-109.
Online responses are no longer available. Please refer to our instructions for authors page for more information.
Michelle Farrar received support from the Motor Neurone Diseases Research Institute of Australia Beryl Bayley MND Postdoctoral Fellowship.
Michelle Farrar has received honoraria from Biogen for consultancy.