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Apr 22, 2021

Publications on SMA Newborn Screening

While writing the Whitepaper, Spinal muscular atrophy: Screen at birth, save lives, we collected a list of publications on the topic of newborn screening and in some cases, specifically about newborn screening in spinal muscular atrophy. The list below has been extracted from the Whitepaper and will be updated as the Whitepaper is also updated over the course of 2021.

If you are an SMA patient group that needs access to one of these publications, email us at [email protected] and we may be able to help.

  1. https://download2.eurordis.org/documents/pdf/eurordis_nbs_position_paper.pdf.
    EURORDIS. 2021.
  2. https://ipopi.org/wp-content/uploads/2020/06/Call-to-Action-NBS-Screen-4-Rare.pdf.
    IPOPI. 2020.
  3. The Genetics of Spinal Muscular Atrophy: Progress and Challenges. Farrar, M. A., & Kiernan,
    M. C. 2015, Neurotherapeutics : the journal of the American Society for Experimental
    NeuroTherapeutics, 12(2), 290–302.
  4. Principles and Practice of screening for disease. Wilson&Jungner. 1968, Public Health
    Papers 34.
  5. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular
    atrophy. Pearn J. 1978, Journal of medical genetics, 15(6), 409–413.
  6. Spinal muscular atrophy. D’Amico, A., Mercuri, E., Tiziano, F. D., et al. 2011, Orphanet
    journal of rare diseases, 6, 71.
  7. Spinal muscular atrophy: a timely review. Kolb, S. J., & Kissel, J. T. 2011, Archives of
    neurology, 68(8), 979–984.
  8. Diverse role of survival motor neuron protein. Singh, R. N., Howell, M. D., Ottesen, E. W.,
    et al. 2017, Biochimica et biophysica acta. Gene regulatory mechanisms, 1860(3), 299–315.
  9. Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745
    unrelated patients and identification of four novel mutations in the SMN1 gene. Alías, L.,
    Bernal, S., Fuentes-Prior, et al. 2009, Human genetics, 125(1), 29–39.
  10. The next generation of population-based spinal muscular atrophy carrier screening:
    comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively
    parallel sequencing. Feng, Y., Ge, X., Meng, L., et al. 2017, Genetics in medicine : official
    journal of the American College of Medical Genetics, 19(8), 936–944.
  11. Correlation between SMA type and SMN2 copy number revisited: An analysis of 625
    unrelated Spanish patients and a compilation of 2834 reported cases. Calucho, M., Bernal, S.,
    Alías, L., et al. 2018, Neuromuscular disorders : NMD, 28(3), 208–215.
  12. Refined characterization of the expression and stability of the SMN gene products. Vitte,
    J., Fassier, C., Tiziano, F. D., et al. 2007, The American journal of pathology, 171(4), 1269–
    1280.
  13. Practical guidelines to manage discordant situations of SMN2 copy number in patients with
    spinal muscular atrophy. Cuscó, I., Bernal, S., Blasco-Pérez, L., et al. 2020, Neurology.
    Genetics, 6(6), e530.
  14. Consensus statement for standard of care in spinal muscular atrophy. Wang, C. H., Finkel,
    R. S., Bertini, E. S., et al. 2007, Journal of child neurology, 22(8), 1027–1049.
  15. Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a
    literature review. Verhaart, I., Robertson, A., Wilson, I. J., et al. 2017, Orphanet journal of
    rare diseases, 12(1), 124.
  16. Advances in Treatment of Spinal Muscular Atrophy – New Phenotypes, New Challenges,
    New Implications for Care. Schorling, D. C., Pechmann, A., & Kirschner, J. 2020, Journal of
    neuromuscular diseases, 7(1), 1–13.
  17. The changing natural history of spinal muscular atrophy type 1. Oskoui, M., Levy, G.,
    Garland, C. J., et al. 2007, Neurology, 69(20), 1931–1936.
  18. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular
    atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study. De Vivo, D. C.,
    Bertini, E., Swoboda, K. J., et al. 2019, Neuromuscular disorders : NMD, 29(11), 842–856.
  19. Neugeborenenscreening auf 5q-assoziierte spinale Muskelatrophie Bericht Nr.891. IQWIG.
    Köln : s.n., 2020, Köln.
  20. Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy:
    Current Perspectives. Dangouloff, T., Servais, L. 2019, Therapeutics and clinical risk
    management, 15, 1153–1161.
  21. 244th ENMC international workshop: Newborn screening in spinal muscular atrophy May
    10-12, 2019, Hoofdorp, The Netherlands. Dangouloff, T., Burghes, A., Tizzano, E. F., et al.
    2020, Neuromuscular disorders : NMD, 30(1), 93–103. .
  22. Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review. Lin, C. W.,
    Kalb, S. J., & Yeh, W. S. 2015, Pediatric neurology, 53(4), 293–300.
  23. One Year of Newborn Screening for SMA – Results of a German Pilot Project. Vill, K., Kölbel,
    H., Schwartz, O., et al. 2019, Journal of neuromuscular diseases, 6(4), 503–515.
  24. A mixed methods exploration of families’ experiences of the diagnosis of childhood spinal
    muscular atrophy. Lawton, S., Hickerton, C., Archibald, A. D., et al. 2015, European journal of
    human genetics : EJHG, 23(5), 575–580.
  25. Newborn and carrier screening for spinal muscular atrophy. Prior, T. W., Snyder, P. J., Rink,
    B. D., et al. 2010, American journal of medical genetics. Part A, 152A(7), 1608–1616.
  26. Pilot study of population-based newborn screening for spinal muscular atrophy in New York
    state. Kraszewski, J. N., Kay, D. M., Stevens, C. F., et al. 2018, Genetics in medicine : official
    journal of the American College of Medical Genetics, 20(6), 608–613.
  27. Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening. Chien,
    Y. H., Chiang, S. C., Weng, W. C., et al. 2017, The Journal of pediatrics, 190, 124–129.e1.
  28. The implementation of newborn screening for spinal muscular atrophy: the Australian
    experience. Kariyawasam, D., Russell, J. S., Wiley, V., et al. 2020, Genetics in medicine : official
    journal of the American College of Medical Genetics, 22(3), 557–565.
  29. Implementation of population-based newborn screening reveals low incidence of spinal
    muscular atrophy. Kay, D. M., Stevens, C. F., Parker, A., et al. 2020, Genetics in medicine :
    official journal of the American College of Medical Genetics, 22(8), 1296–1302. .
  30. CMAP changes upon symptom onset and during treatment in spinal muscular atrophy
    patients: lessons learned from newborn screening. Weng, W. C., Hsu, Y. K., Chang, F. M., et
    al. 2020, Genetics in medicine : official journal of the American College of Medical Genetics,
    23(2), 415–420.
  31. Newborn screening for SMA in Southern Belgium. Boemer, F., Caberg, J. H., Dideberg, V.,
    et al. 2019, Neuromuscular disorders : NMD, 29(5), 343–349.
  32. Newborn Screening for Spinal Muscular Atrophy in China Using DNA Mass Spectrometry.
    Lin, Y., Lin, C. H., Yin, X., et al. 2019, Frontiers in genetics, 10, 1255.
  33. Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general
    population. Boardman F. K., Sadler C, Young PJ. 2018, Molecular genetics & genomic
    medicine, 6(1), 99–108.
  34. Impairment Experiences, Identity and Attitudes Towards Genetic Screening: the Views of
    People with Spinal Muscular Atrophy. Boardman, F. K., Young, P. J., & Griffiths, F. E. 2018,
    Journal of genetic counseling, 27(1), 69–84.
  35. Newborn screening for spinal muscular atrophy: The views of affected families and adults.
    Boardman, F. K., Young, P. J., & Griffiths, F. E. 2017, American journal of medical genetics.
    Part A, 173(6), 1546–1561.
  36. Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era:
    early pre-symptomatic intervention and test in minors. Serra-Juhe, C., & Tizzano, E. F. 2019,
    European journal of human genetics : EJHG, 27(12), 1774–1782.
  37. Request Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations
    for diagnosis, rehabilitation, orthopedic and nutritional care. Mercuri, E., Finkel, R. S.,
    Muntoni, F., et al. 2018, Neuromuscular disorders : NMD, 28(2), 103–115.
  38. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care;
    medications, supplements and immunizations; other organ systems; and ethics. Finkel, R. S.,
    Mercuri, E., Meyer, O. H., et al. 2018, Neuromuscular disorders : NMD, 28(3), 197–207.
  39. Natural history of infantile-onset spinal muscular atrophy. Kolb, S. J., Coffey, C. S., Yankey,
    J. W., et al. 2017, Annals of neurology, 82(6), 883–891.
  40. Observational study of spinal muscular atrophy type I and implications for clinical trials.
    Finkel, R. S., McDermott, M. P., Kaufmann, P.,et al. 2014, Neurology, 83(9), 810–817.
  41. Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular
    Atrophy Via Newborn Screening Who Have 4 Copies of SMN2. Glascock, J., Sampson, J.,
    Connolly, A.M., et al. 2020, Journal of neuromuscular diseases, 7(2), 97–100.
  42. Disease burden of spinal muscular atrophy in Germany. Klug, C., Schreiber-Katz, O., Thiele,
    S., et al. 2016, Orphanet journal of rare diseases, 11(1), 58.
  43. Social/economic costs and health-related quality of life in patients with spinal muscular
    atrophy (SMA) in Spain. López-Bastida, J., Peña-Longobardo, L. M., Aranda-Reneo, I., et al.
    2017, Orphanet journal of rare diseases, 12(1), 141.
  44. The Economic Impact and Health-Related Quality of Life of Spinal Muscular Atrophy. An
    Analysis across Europe. Peña-Longobardo, L. M., Aranda-Reneo, I., Oliva-Moreno, J., et al.
    2020, International journal of environmental research and public health, 17(16), 5640.
  45. U.S. newborn screening policy dilemmas for the twenty-first century. Therrell BL. 2001,
    Molecular genetics and metabolism, 74(1-2), 64–74.
  46. European Union Should Actively Stimulate and Harmonise Neonatal Screening Initiatives.
    Loeber, J. G. 2018, International journal of neonatal screening, 4(4), 32.
  47. Short executive summary of the report on the practices of newborn screening for rare
    disorders in member states of the European Union, candidate and potential candidate, and
    EFTA countries. Burgard, P., Cornel, M.C., Di Filippo, et al. 2011, http://www.isnsneoscreening.org/wp-content/uploads/2016/06/Summary20111018.pdf.
  48. Newborn screening in Europe; expert opinion document. Cornel, M.C., Rigter, T.,
    Weinreich, S.S., et al. 2011, https://www.isns-neoscreening.org/wpcontent/uploads/2018/11/Expert-opinion-document-on-NBS-FINAL.pdf.
  49. Neonatal screening in Europe revisited; an ISNS-perspective on the current state and
    developments since 2010. Loeber, J. G., Platis, D., Zetterström, R. H., et al. 2021, International
    journal of neonatal screening, 7(1), 15.
  50. Informing parents about newborn screening: a European comparison study. Ijzebrink, A.,
    van Dijk, T., Franková, V., et al. 2021, International journal of neonatal screening, 7(1), 13.
  51. Blood collection on filter paper for newborn screening programs; approved standard-sixth
    edition. CLSI. 2013, CLSI document NBS01-A6. Clinical and Laboratory Standards Institute.
  52. Newborn blood spot screening test using multiplexed real-time PCR to simultaneously
    screen for spinal muscular atrophy and severe combined immunodeficiency. Taylor, J. L., Lee,
    F. K., Yazdanpanah, G. K.,et al. 2015, Clinical chemistry, 61(2), 412–419.
  53. Assessment of liquid microbead arrays for the screening of newborns for spinal muscular
    atrophy. Pyatt, R. E., Mihal, D. C., & Prior, T. W. 2007, Clinical chemistry, 53(11), 1879–1885.
  54. Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt
    profiling. Dobrowolski, S. F., Pham, H. T., Downes, F. P., et al. 2012, Clinical chemistry, 58(6),
    1033–1039.
  55. SMA screening system using dried blood spots on filter paper: application of COP-PCR to
    the SMN1 deletion test. Kato, N., Sa’Adah, N., Ar Rochmah, M., et al. 2015, The Kobe journal
    of medical sciences, 60(4), E78–E85.
  56. An innovative SMA screening method directly from dried blood spots. Vandermeulen, C.,
    Giltay, A., Detemmerman, L. 2020, 6. Int J Neonatal Screen https://www.mdpi.com/2409-
    515X/6/1/12/htm.
  57. Development of a Multiplex Real-Time PCR Assay for the Newborn Screening of SCID, SMA,
    and XLA. Gutierrez-Mateo, C., Timonen, A., Vaahtera, K., et al. 2019, International journal of
    neonatal screening, 5(4), 39.
  58. Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and
    Assessment of Spinal Muscular Atrophy. Vidal-Folch, N., Gavrilov, D., Raymond, K., et al.
    2018, Clinical chemistry, 64(12), 1753–1761.
  59. European ad-hoc consensus statement on gene replacement therapy for spinal muscular
    atrophy. Kirschner, J., Butoianu, N., Goemans, N., et al. 2020, European journal of paediatric
    neurology : EJPN : official journal of the European Paediatric Neurology Society, 28, 38–43.
  60. Advances in Newborn Screening and Presymptomatic Diagnosis of Spinal Muscular
    Atrophy. Jędrzejowska, M. 2020, Degenerative neurological and neuromuscular disease, 10,
    39–47.
  61. American College of Medical Genetics’ Newborn Screening Expert Group. Newborn
    screening: toward a uniform screening panel and system. ACMG. 2006, Genet Med.;8 (suppl
    1):1S-252S.
  62. Whole genome sequencing and newborn screening. Botkin, J. R., & Rothwell, E. 2016,
    Current genetic medicine reports, 4(1), 1–6.
  63. Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies.
    Peeters, K., Chamova, T., & Jordanova, A. 2014, Brain : a journal of neurology, 137(Pt 11),
    2879–2896.
  64. Pharmacoeconomics: NICE’s approach to decision-making. Rawlins, M., Barnett, D., &
    Stevens, A. 2010, British journal of clinical pharmacology, 70(3), 346–349.
  65. Determining the value of medical technologies to treat ultra-rare disorders: a consensus
    statement. Schlander, M., Garattini, S., Kolominsky-Rabas, P., et al. 2016, Journal of market
    access & health policy, 4, 10.3402/jmahp.v4.33039.
  66. Do payers value rarity? An analysis of the relationship between disease rarity and orphan
    drug prices in Europe. Medic, G., Korchagina, D., Young, K. E., et al. 2017, Journal of market
    access & health policy, 5(1), 1299665.
  67. A cost-effectiveness analysis of newborn screening for severe combined immunodeficiency
    in the UK. Bessey, A., Chilcott, J., Leaviss, J., et al. 2019, International journal of neonatal
    screening, 5(3), 28.
  68. Cost-effectiveness of newborn screening for cystic fibrosis determined with real-life data.
    van der Ploeg, C. P., van den Akker-van Marle, M. E., Vernooij-van Langen, A. M., et al. 2015,
    Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society, 14(2), 194–
    202.
  69. Cost-effectiveness of newborn screening for severe combined immunodeficiency. van der
    Ploeg, C. P., Blom, M., Bredius, R.G.M., et al. 2019, European journal of pediatrics, 178(5),
    721–729.
  70. Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase
    Deficiency. Vallejo-Torres, L., Castilla, I., Couce, M. L., et al. 2015, Pediatrics, 136(2), e424–
    e432.
  71. Cost-effectiveness of nusinersen and universal newborns screening for spinal muscular
    atrophy. Jalali, A., Rothwell, E., Botkin, J. R., et al. 2020, The Journal of pediatrics, 227, 274–
    280.e2.
  72. Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn
    Screening – Opportunity or Burden? Müller-Felber, W., Vill, K., Schwartz, O., et al. 2020,
    Journal of neuromuscular diseases, 7(2), 109–117.
  73. https://www.g-ba.de/presse/pressemitteilungen-meldungen/919/. GBA. 2020.
  74. Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and
    where to go. Dangouloff, T., Vrščaj, E., Servais, L. 2021, Neuromuscular disorders : NMD,
    31(6), pp. 574–582.
  75. https://www.healthcouncil.nl/documents/advisory-reports/2019/07/23/neonatalscreening-for-spinal-muscular-atrophy. NL, Health Council. 2019.
  76. A Novel System for Spinal Muscular Atrophy Screening in Newborns: Japanese Pilot Study.
    Shinohara, M., Niba, E., Wijaya, Y., et al. 2019, International journal of neonatal screening,
    5(4), 41.