Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80(1):155–65. https://doi.org/10.1016/0092-8674(95)90460-3.
Article
CAS
PubMed
Google Scholar
Wirth B. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat. 2000;15(3):228–37. https://doi.org/10.1002/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9.
Article
CAS
PubMed
Google Scholar
Arnold WD, Kassar D, Kissel JT. Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve. 2015;51(2):157–67. https://doi.org/10.1002/mus.24497.
Article
CAS
PubMed
Google Scholar
Kolb SJ, Kissel JT. Spinal muscular atrophy: a timely review. Arch Neurol. 2011;68(8):979–84. https://doi.org/10.1001/archneurol.2011.74.
Article
PubMed
Google Scholar
Kolb SJ, Kissel JT. Spinal muscular atrophy. Neurol Clin. 2015;33(4):831–46. https://doi.org/10.1016/j.ncl.2015.07.004.
Article
PubMed
PubMed Central
Google Scholar
Sugarman EA, Nagan N, Zhu H, Akmaev VR, Zhou Z, Rohlfs EM, 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(1):27–32. https://doi.org/10.1038/ejhg.2011.134 Epub 2011 Aug 3. PMID: 21811307; PMCID: PMC3234503.
Article
PubMed
Google Scholar
Roberts DF, Chavez J, Court SD. The genetic component in child mortality. Arch Dis Child. 1970;45(239):33–8. https://doi.org/10.1136/adc.45.239.33.
Article
CAS
PubMed
PubMed Central
Google Scholar
Thomas NH, Dubowitz V. The natural history of type I (severe) spinal muscular atrophy. Neuromuscul Disord. 1994;4(5–6):497–502. https://doi.org/10.1016/0960-8966(94)90090-6 PMID: 7881295.
Article
CAS
PubMed
Google Scholar
Zerres K, Rudnik-Schoneborn S. Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol. 1995;52(5):518–23. https://doi.org/10.1001/archneur.1995.00540290108025.
Article
CAS
PubMed
Google Scholar
Zerres K, Rudnik-Schoneborn S, Forrest E, Lusakowska A, Borkowska J, Hausmanowa-Petrusewicz I. A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. J Neurol Sci. 1997;146(1):67–72. https://doi.org/10.1016/S0022-510X(96)00284-5.
Article
CAS
PubMed
Google Scholar
Wirth B, Herz M, Wetter A, Moskau S, Hahnen E, Rudnik-Schöneborn S, et al. Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. Am J Hum Genet. 1999;64(5):1340–56. https://doi.org/10.1086/302369.
Article
CAS
PubMed
PubMed Central
Google Scholar
Wirth B, Brichta L, Schrank B, Lochmüller H, Blick S, Baasner A, et al. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet. 2006;119(4):422–8. https://doi.org/10.1007/s00439-006-0156-7.
Article
CAS
PubMed
Google Scholar
Wang CH, Finkel RS, Bertini ES. Et al; participants of the international conference on SMA standard of care. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22(8):1027–49. https://doi.org/10.1177/0883073807305788.
Article
PubMed
Google Scholar
Farrar MA, Kiernan MC. The genetics of spinal muscular atrophy: Progress and challenges. Neurotherapeutics. 2015;12(2):290–302. https://doi.org/10.1007/s13311-014-0314-x.
Article
CAS
PubMed
Google Scholar
Wadman R, Stam M, Gijzen M, et al. Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0-4. J Neurol Neurosurg Psychiatry. 2017;88(4):365–7. https://doi.org/10.1136/jnnp-2016-314292.
Article
PubMed
Google Scholar
Swoboda KJ, Prior TW, Scott CB, McNaught TP, Wride MC, Reyna SP, et al. Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Ann Neurol. 2005;57(5):704–12. https://doi.org/10.1002/ana.20473.
Article
CAS
PubMed
PubMed Central
Google Scholar
Kolb S, Coffey C, Yankey J, Krosschell K, Arnold W, Rutkove S, et al. Natural history of infantile-onset spinal muscular atrophy. Ann Neurol. 2017;82(6):883–91. https://doi.org/10.1002/ana.25101.
Article
CAS
PubMed
PubMed Central
Google Scholar
SPINRAZA Prescribing information. Cambridge: Biogen; 2016.
ZOLGENSMA. Prescribing information. Bannockburn: AveXis, Inc; 2019.
Google Scholar
EVRYSDI. Prescribing information. San Francisco: Genentech; 2020.
Google Scholar
Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, et al. Nusinersen versus sham control in infantile onset spinal muscular atrophy. N Engl J Med. 2017;377(18):1723–32. https://doi.org/10.1056/NEJMoa1702752.
Article
CAS
PubMed
Google Scholar
Mendell J, Al Zaidy S, Shell R, et al. Single-dose gene-replacement therapy for spinal muscular atrophy. N Engl J Med. 2017;377(18):1713–22. https://doi.org/10.1056/NEJMoa1706198.
Article
CAS
PubMed
Google Scholar
De Vivo DC, Bertini E, Swoboda KJ, et al. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study. Neuromuscul Dis. 2019. https://doi.org/10.1016/j.nmd.2019.09.007.
Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, et al. Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018;28(2):103–15. https://doi.org/10.1016/j.nmd.2017.11.005.
Article
PubMed
Google Scholar
Pechmann A, Langer T, Schorling D, Stein S, Vogt S, Schara U, et al. Evaluation of children with SMA type 1 under treatment with Nusinersen within the expanded access program in Germany. J Neuromuscul Dis. 2018;5(2):135–43. https://doi.org/10.3233/JND-180315.
Article
PubMed
PubMed Central
Google Scholar
Dangouloff T, Servais L. Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives. Ther Clin Risk Manag. 2019;15:1153–61. https://doi.org/10.2147/TCRM.S172291 Published 2019 Oct 2.
Article
CAS
PubMed
PubMed Central
Google Scholar
Aragon-Gawinska K, Daron A, Ulinici A, Vanden Brande L, Seferian A, Gidaro T, et al. Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen. Dev Med Child Neurol. 2020;62(3):310–4. https://doi.org/10.1111/dmcn.14412 Epub 2019 Dec 4. PMID: 31799720.
Article
PubMed
Google Scholar
Waldrop MA, Karingada C, Storey MA, Powers B, Iammarino MA, Miller NF, et al. Gene therapy for spinal muscular atrophy: safety and early outcomes. Pediatrics. 2020;146(3):e20200729. https://doi.org/10.1542/peds.2020-0729 PMID: 32843442.
Article
PubMed
Google Scholar
Andersson PB, Rando TA. Neuromuscular disorders of childhood. Curr Opin Pediatr. 1999;11(6):497–503. Review. PubMed PMID: 10590906. https://doi.org/10.1097/00008480-199912000-00004.
Article
CAS
PubMed
Google Scholar
Leyenaar J, Camfield P, Camfield C. A schematic approach to hypotonia in infancy. Paediatr Child Health. 2005;10(7):397–400. https://doi.org/10.1093/pch/10.7.397.
Article
PubMed
PubMed Central
Google Scholar
Lin C-W, Kalb SJ, Yeh W-S. Delay in diagnosis of spinal muscular atrophy: a systematic literature review. Pediatric Neurol. 2015;53(4):293–300. https://doi.org/10.1016/j.pediatrneurol.2015.06.002.
Article
Google Scholar
Belter L, Cook SF, Crawford TO, et al. An overview of the Cure SMA membership database: highlights of key demographic and clinical characteristics of SMA members. J Neuromuscul Dis. 2018;5(2):167–76. https://doi.org/10.3233/JND-170292.
Article
PubMed
PubMed Central
Google Scholar
Newborn Screening for Spinal Muscular Atrophy: A Summary of the Evidence and Advisory Committee Decision. HRSA Maternal and Child Health. March 13, 2018. https://www.hrsa.gov/sites/default/files/hrsa/advisory-committees/heritable-disorders/rusp/previous-nominations/sma-consumer-summary.pdf Accessed 13 July 2020.
Newborn Screening for SMA. Cure SMA. https://www.curesma.org/newborn-screening-for-sma/ Accessed 14 Aug 2020.
Baxter SK, Blank L, Woods HB, Payne N, Rimmer M, Goyder E. Using logic model methods in systematic review synthesis: describing complex pathways in referral management interventions. BMC Med Res Methodol. 2014;14(1):62. https://doi.org/10.1186/1471-2288-14-62. PubMed PMID: 24885751; PubMed Central PMCID: PMC4028001.
Article
PubMed
PubMed Central
Google Scholar
Greenwood-Lee J, Jewett L, Woodhouse L, Marshall DA. A categorisation of problems and solutions to improve patient referrals from primary to specialty care. BMC Health Serv Res. 2018;18(1):986. https://doi.org/10.1186/s12913-018-3745-y Review. PubMed PMID: 30572898; PubMed Central PMCID: PMC6302393.
Article
PubMed
PubMed Central
Google Scholar
Lawton S, Hickerton C, Archibald AD, McClaren BJ, Metcalfe SA. A mixed methods exploration of families' experiences of the diagnosis of childhood spinal muscular atrophy. Eur J Hum Genet. 2015;23(5):575–80. https://doi.org/10.1038/ejhg.2014.147.
Article
PubMed
Google Scholar
Council on Children With Disabilities; Section on Developmental Behavioral Pediatrics; Committee, Bright Futures Steering; Medical Home Initiatives for Children With Special Needs Project Advisory Committee. Identifying infants and young children with developmental disorders in the medical home: an algorithm for developmental surveillance and screening. Pediatrics. 2006;118(1):405–20 Retrieved from https://pediatrics.aappublications.org/content/118/1/405.long.
Article
Google Scholar
Noritz GH, Murphy NA. Neuromotor Screening Expert Panel. Motor Delays: Early Identification and Evaluation. Pediatrics. 2013;131(6). Available at: www.pediatrics.org/cgi/content/full/131/6/e2016 - September 01, 2017.
Hagan JF, Shaw JS, Duncan PM, editors. Bright futures: guidelines for health supervision of infants, children, and adolescents. 4th ed. Elk Grove Village: American Academy of Pediatrics; 2017.
Google Scholar
SMArt Moves. Cure SMA. https://smartmoves.curesma.org/ Accessed 14 Aug 2020.
Squires J, Bricker D. Ages & stages questionnaires®, third edition (ASQ®-3): a parent-completed child monitoring system. Baltimore: Paul H. Brookes Publishing Co., Inc.; 2009.
Google Scholar
Frankenburg WK, Archer P. Denver II: training manual. 2nd ed. Denver: Denver Developmental Materials, Inc.; 1992.
Google Scholar
Glascoe F. Collaborating with Parents: Using Parents’ Evaluation of Developmental Status (PEDS) to Detect And Address Developmental And Behavioral Problems. 2nd ed. Nolensville: PEDSTest.com, LLC; 2013.
Ahmed MI, Iqbal M, Hussain N. A structured approach to the assessment of a floppy neonate. J Pediatr Neurosci. 2016;11(1):2–6. https://doi.org/10.4103/1817-1745.181250.
Article
PubMed
PubMed Central
Google Scholar
Rydz D, Shevell MI, Majnemer A, Oskoui M. Developmental screening. J Child Neurol. 2005;20(1):4–21. https://doi.org/10.1177/08830738050200010201.
Article
PubMed
Google Scholar
Marks KP, Page Glascoe F, Macias MM. Enhancing the algorithm for developmental-behavioral surveillance and screening in children 0 to 5 years. Clin Pediatr (Phila). 2011;50(9):853–68. https://doi.org/10.1177/0009922811406263.
Article
Google Scholar
Guevara JP, Gerdes M, Localio R, Huang YV, Pinto-Martin J, Minkovitz CS, et al. Effectiveness of developmental screening in an urban setting. Pediatrics. 2013;131(1):30–7. https://doi.org/10.1542/peds.2012-0765.
Article
PubMed
Google Scholar
Carroll AE, Bauer NS, Dugan TM, Anand V, Saha C, Downs SM. Use of a computerized decision aid for developmental surveillance and screening: a randomized clinical trial. JAMA Pediatr. 2014;168(9):815–21. https://doi.org/10.1001/jamapediatrics.2014.464.
Article
PubMed
Google Scholar
Palfrey JS, Singer JD, Walker DK, Butler JA. Early identification of children’s special needs: a study in five metropolitan communities. J Pediatr. 1987;111(5):651–9. https://doi.org/10.1016/S0022-3476(87)80238-X.
Article
CAS
PubMed
Google Scholar
Horwitz S, Leaf P, Leventhal J. 2020. Identification of psychosocial problems in pediatric primary care. Arch Pediatr Adolesc Med. 1998;152(4):367–71. https://doi.org/10.1001/archpedi.152.4.367.
Article
CAS
PubMed
Google Scholar
Shevell MI, Majnemer A, Rosenbaum P, Abrahamowicz M. Profile of referrals for early childhood developmental delay to ambulatory subspecialty clinics. J Child Neurol. 2001;16(9):645–50 https://doi.org/10.1177/088307380101600904.
Article
CAS
PubMed
Google Scholar
Lipkin PH, Macias MM, Chen BB, Coury D, Gottschlich EA, Hyman SL, et al. Trends in Pediatricians’ Developmental Screening: 2002–2016. Pediatrics. 2020;145(4):e20190851. https://doi.org/10.1542/peds.2019-0851.
Article
PubMed
Google Scholar
Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer J, et al. Timing of diagnosis of patients with Pompe disease: data from the Pompe registry. Am J Med Genet A. 2013;161A(10):2431–43. https://doi.org/10.1002/ajmg.a.36110.
Article
PubMed
Google Scholar
Rao VK, Kuntz NL. Delay in Diagnosis of Duchenne Muscular Dystrophy. Pediatr Neurol Briefs. 2015;29(1):5. https://doi.org/10.15844/pedneurbriefs-29-1-4.
Article
PubMed
PubMed Central
Google Scholar
Glascock J, Sampson J, Haidet-Phillips A, Connolly A, Darras B, Day J, et al. Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screen¬ing. J Neuromuscul Dis. 2018;5(2):145–58. https://doi.org/10.3233/JND-180304.
Article
PubMed
PubMed Central
Google Scholar
Glascock J, Sampson J, Connolly AM, Darras BT, Day JW, Finkel R, et al. Revised recommendations for the treatment of infants diagnosed with spinal muscular atrophy via newborn screening who have 4 copies of SMN2. J Neuromuscul Dis. 2020;7(2):97–100. https://doi.org/10.3233/JND-190468.
Article
PubMed
PubMed Central
Google Scholar
Starfield B. Primary care: balancing health needs, services and technology. New York: NY Oxford University Press; 1998.
Google Scholar
Forrest CB, Glade GB, Baker AE, Bocian A, von Schrader S, Starfield B. Coordination of specialty referrals and physician satisfaction with referral care. Arch Pediatr Adolesc Med. 2000;154(5):499–506. PubMed PMID: 10807303. https://doi.org/10.1001/archpedi.154.5.499.
Article
CAS
PubMed
Google Scholar
Schoen C, Osborn R, Huynh PT, Doty M, Peugh J, Zapert K. On the front lines of care: primary care doctors' office systems, experiences, and views in seven countries. Health Aff (Millwood). 2006;25(6):w555–71. Epub 2006 Nov 2. PubMed PMID: 17102164. https://doi.org/10.1377/hlthaff.25.w555.
Article
Google Scholar
O'Malley AS, Reschovsky JD. Referral and consultation communication between primary care and specialist physicians: finding common ground. Arch Intern Med. 2011;171(1):56–65. https://doi.org/10.1001/archinternmed.2010.480 PubMed PMID: 21220662.
Article
PubMed
Google Scholar