{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,23]],"date-time":"2024-08-23T19:05:45Z","timestamp":1724439945923},"reference-count":64,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2024,3,2]],"date-time":"2024-03-02T00:00:00Z","timestamp":1709337600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"},{"start":{"date-parts":[[2024,3,2]],"date-time":"2024-03-02T00:00:00Z","timestamp":1709337600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Ther"],"published-print":{"date-parts":[[2024,6]]},"DOI":"10.1007\/s40120-024-00587-9","type":"journal-article","created":{"date-parts":[[2024,3,2]],"date-time":"2024-03-02T11:02:32Z","timestamp":1709377352000},"page":"583-598","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Assessment of Barriers to Referral and Appointment Wait Times for the Evaluation of Spinal Muscular Atrophy (SMA): Findings from a Web-Based Physician Survey"],"prefix":"10.1007","volume":"13","author":[{"given":"Mary A.","family":"Curry","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ros\u00e1ngel E.","family":"Cruz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa T.","family":"Belter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary K.","family":"Schroth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jill","family":"Jarecki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,3,2]]},"reference":[{"issue":"1","key":"587_CR1","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","volume":"80","author":"S Lefebvre","year":"1995","unstructured":"Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80(1):155\u201365.","journal-title":"Cell"},{"issue":"2","key":"587_CR2","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1002\/mus.24497","volume":"51","author":"WD Arnold","year":"2015","unstructured":"Arnold WD, Kassar D, Kissel JT. Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve. 2015;51(2):157\u201367.","journal-title":"Muscle Nerve"},{"issue":"8","key":"587_CR3","doi-asserted-by":"publisher","first-page":"979","DOI":"10.1001\/archneurol.2011.74","volume":"68","author":"SJ Kolb","year":"2011","unstructured":"Kolb SJ, Kissel JT. Spinal muscular atrophy: a timely review. Arch Neurol. 2011;68(8):979\u201384.","journal-title":"Arch Neurol"},{"issue":"4","key":"587_CR4","doi-asserted-by":"publisher","first-page":"831","DOI":"10.1016\/j.ncl.2015.07.004","volume":"33","author":"SJ Kolb","year":"2015","unstructured":"Kolb SJ, Kissel JT. Spinal muscular atrophy. Neurol Clin. 2015;33(4):831\u201346.","journal-title":"Neurol Clin"},{"issue":"1","key":"587_CR5","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1038\/ejhg.2011.134","volume":"20","author":"EA Sugarman","year":"2012","unstructured":"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(1):27\u201332.","journal-title":"Eur J Hum Genet"},{"issue":"3","key":"587_CR6","doi-asserted-by":"publisher","first-page":"228","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9","volume":"15","author":"B Wirth","year":"2000","unstructured":"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\u201337.","journal-title":"Hum Mutat"},{"issue":"1\u20132","key":"587_CR7","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1016\/S0378-1119(97)00510-6","volume":"204","author":"A Bergin","year":"1997","unstructured":"Bergin A, Kim G, Price DL, Sisodia SS, Lee MK, Rabin BA. Identification and characterization of a mouse homologue of the spinal muscular atrophy-determining gene, survival motor neuron. Gene. 1997;204(1\u20132):47\u201353.","journal-title":"Gene"},{"issue":"11","key":"587_CR8","doi-asserted-by":"publisher","first-page":"840","DOI":"10.1097\/GIM.0b013e318188d069","volume":"10","author":"TW Prior","year":"2008","unstructured":"Prior TW. Carrier screening for spinal muscular atrophy. Genet Med. 2008;10(11):840\u20132.","journal-title":"Genet Med"},{"issue":"1","key":"587_CR9","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1186\/s13023-017-0671-8","volume":"12","author":"IEC Verhaart","year":"2017","unstructured":"Verhaart IEC, Robertson A, Wilson IJ, et al. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy\u2014a literature review. Orphanet J Rare Dis. 2017;12(1):124.","journal-title":"Orphanet J Rare Dis"},{"issue":"4","key":"587_CR10","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1002\/ajmg.10425","volume":"110","author":"S Ogino","year":"2002","unstructured":"Ogino S, Leonard DG, Rennert H, Ewens WJ, Wilson RB. Genetic risk assessment in carrier testing for spinal muscular atrophy. Am J Med Genet. 2002;110(4):301\u20137.","journal-title":"Am J Med Genet"},{"issue":"4","key":"587_CR11","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1136\/jnnp-2016-314292","volume":"88","author":"RI Wadman","year":"2017","unstructured":"Wadman RI, Stam M, Gijzen M, et al. Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy Types 0\u20134. J Neurol Neurosurg Psychiatry. 2017;88(4):365\u20137.","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"5","key":"587_CR12","doi-asserted-by":"publisher","first-page":"518","DOI":"10.1001\/archneur.1995.00540290108025","volume":"52","author":"K Zerres","year":"1995","unstructured":"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\u201323.","journal-title":"Arch Neurol"},{"issue":"8","key":"587_CR13","doi-asserted-by":"publisher","first-page":"946","DOI":"10.1177\/0883073807305673","volume":"22","author":"BS Russman","year":"2007","unstructured":"Russman BS. Spinal muscular atrophy: clinical classification and disease heterogeneity. J Child Neurol. 2007;22(8):946\u201351.","journal-title":"J Child Neurol"},{"issue":"9","key":"587_CR14","doi-asserted-by":"publisher","first-page":"1400","DOI":"10.1007\/s00415-008-0929-0","volume":"255","author":"S Piepers","year":"2008","unstructured":"Piepers S, van den Berg LH, Brugman F, et al. A natural history study of late onset spinal muscular atrophy Types 3b and 4. J Neurol. 2008;255(9):1400\u20134.","journal-title":"J Neurol"},{"issue":"1","key":"587_CR15","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3233\/JND-190424","volume":"7","author":"DC Schorling","year":"2020","unstructured":"Schorling DC, Pechmann A, Kirschner J. Advances in treatment of spinal muscular atrophy\u2014new phenotypes, new challenges, new implications for care. J Neuromuscul Dis. 2020;7(1):1\u201313.","journal-title":"J Neuromuscul Dis"},{"key":"587_CR16","unstructured":"Spinraza. Prescribing information. Biogen. https:\/\/www.spinraza.com\/content\/dam\/commercial\/spinraza\/caregiver\/en_us\/pdf\/spinraza-prescribing-information.pdf. Accessed 20 Feb 2024."},{"key":"587_CR17","unstructured":"Zolgensma. Prescribing information. Novartis Gene Therapies. https:\/\/www.novartis.com\/us-en\/sites\/novartis_us\/files\/zolgensma.pdf. Accessed 20 Feb 2024."},{"key":"587_CR18","unstructured":"Evrysdi. Prescribing information. Genentech. https:\/\/www.gene.com\/download\/pdf\/evrysdi_prescribing.pdf. Accessed 20 Feb 2024."},{"issue":"10","key":"587_CR19","doi-asserted-by":"publisher","first-page":"998","DOI":"10.1016\/j.nmd.2021.08.009","volume":"31","author":"E Mercuri","year":"2021","unstructured":"Mercuri E. Spinal muscular atrophy: from rags to riches. Neuromuscul Disord. 2021;31(10):998\u20131003.","journal-title":"Neuromuscul Disord"},{"issue":"3","key":"587_CR20","doi-asserted-by":"publisher","first-page":"417","DOI":"10.3390\/cells11030417","volume":"11","author":"T Aslesh","year":"2022","unstructured":"Aslesh T, Yokota T. Restoring SMN expression: an overview of the therapeutic developments for the treatment of spinal muscular atrophy. Cells. 2022;11(3):417.","journal-title":"Cells"},{"key":"587_CR21","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1146\/annurev-med-070119-115459","volume":"72","author":"B Ravi","year":"2021","unstructured":"Ravi B, Chan-Cortes MH, Sumner CJ. Gene-targeting therapeutics for neurological disease: lessons learned from spinal muscular atrophy. Annu Rev Med. 2021;72:1\u201314.","journal-title":"Annu Rev Med"},{"issue":"8","key":"587_CR22","doi-asserted-by":"publisher","DOI":"10.1016\/j.xcrm.2022.100725","volume":"3","author":"AAL Motyl","year":"2022","unstructured":"Motyl AAL, Gillingwater TH. Timing is everything: clinical evidence supports pre-symptomatic treatment for spinal muscular atrophy. Cell Rep Med. 2022;3(8): 100725.","journal-title":"Cell Rep Med"},{"issue":"7","key":"587_CR23","doi-asserted-by":"publisher","first-page":"1381","DOI":"10.1038\/s41591-022-01866-4","volume":"28","author":"KA Strauss","year":"2022","unstructured":"Strauss KA, Farrar MA, Muntoni F, et al. Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the phase III SPR1NT trial. Nat Med. 2022;28(7):1381\u20139.","journal-title":"Nat Med"},{"issue":"7","key":"587_CR24","doi-asserted-by":"publisher","first-page":"1390","DOI":"10.1038\/s41591-022-01867-3","volume":"28","author":"KA Strauss","year":"2022","unstructured":"Strauss KA, Farrar MA, Muntoni F, et al. Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the phase III SPR1NT trial. Nat Med. 2022;28(7):1390\u20137.","journal-title":"Nat Med"},{"issue":"4","key":"587_CR25","doi-asserted-by":"publisher","first-page":"504","DOI":"10.1017\/cjn.2020.229","volume":"48","author":"HJ McMillan","year":"2021","unstructured":"McMillan HJ, Kernohan KD, Yeh E, et al. Newborn screening for spinal muscular atrophy: Ontario testing and follow-up recommendations. Can J Neurol Sci. 2021;48(4):504\u201311.","journal-title":"Can J Neurol Sci"},{"issue":"2","key":"587_CR26","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1002\/mus.27261","volume":"64","author":"BH Lee","year":"2021","unstructured":"Lee BH, Waldrop MA, Connolly AM, Ciafaloni E. Time is muscle: a recommendation for early treatment for preterm infants with spinal muscular atrophy. Muscle Nerve. 2021;64(2):153\u20135.","journal-title":"Muscle Nerve"},{"issue":"4","key":"587_CR27","doi-asserted-by":"publisher","first-page":"710","DOI":"10.1002\/ppul.25055","volume":"56","author":"NJ Abreu","year":"2021","unstructured":"Abreu NJ, Waldrop MA. Overview of gene therapy in spinal muscular atrophy and Duchenne muscular dystrophy. Pediatr Pulmonol. 2021;56(4):710\u201320.","journal-title":"Pediatr Pulmonol"},{"issue":"6","key":"587_CR28","doi-asserted-by":"publisher","first-page":"883","DOI":"10.1002\/ana.25101","volume":"82","author":"SJ Kolb","year":"2017","unstructured":"Kolb SJ, Coffey CS, Yankey JW, et al. Natural history of infantile-onset spinal muscular atrophy. Ann Neurol. 2017;82(6):883\u201391.","journal-title":"Ann Neurol"},{"key":"587_CR29","doi-asserted-by":"publisher","first-page":"11","DOI":"10.2147\/TACG.S239603","volume":"14","author":"MC Keinath","year":"2021","unstructured":"Keinath MC, Prior DE, Prior TW. Spinal muscular atrophy: mutations, testing, and clinical relevance. Appl Clin Genet. 2021;14:11\u201325.","journal-title":"Appl Clin Genet"},{"key":"587_CR30","doi-asserted-by":"publisher","DOI":"10.1016\/j.earlhumdev.2019.104851","volume":"138","author":"EF Tizzano","year":"2019","unstructured":"Tizzano EF. Treating neonatal spinal muscular atrophy: a 21st century success story? Early Hum Dev. 2019;138: 104851.","journal-title":"Early Hum Dev"},{"issue":"2","key":"587_CR31","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1016\/j.nmd.2017.11.005","volume":"28","author":"E Mercuri","year":"2018","unstructured":"Mercuri E, Finkel RS, Muntoni F, 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\u201315.","journal-title":"Neuromuscul Disord"},{"key":"587_CR32","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2021.100899","volume":"38","author":"RJ Butterfield","year":"2021","unstructured":"Butterfield RJ. Spinal muscular atrophy treatments, newborn screening, and the creation of a neurogenetics urgency. Semin Pediatr Neurol. 2021;38: 100899.","journal-title":"Semin Pediatr Neurol"},{"issue":"1","key":"587_CR33","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1186\/s12887-021-02692-2","volume":"21","author":"M Curry","year":"2021","unstructured":"Curry M, Cruz R, Belter L, Schroth M, Lenz M, Jarecki J. Awareness screening and referral patterns among pediatricians in the United States related to early clinical features of spinal muscular atrophy (SMA). BMC Pediatr. 2021;21(1):236.","journal-title":"BMC Pediatr"},{"issue":"2","key":"587_CR34","volume":"121","author":"CF Bola\u00f1o D\u00edaz","year":"2023","unstructured":"Bola\u00f1o D\u00edaz CF, Morosini M, Chloca F, et al. The difficult path to diagnosis of the patient with spinal muscular atrophy. Arch Argent Pediatr. 2023;121(2): e202102542.","journal-title":"Arch Argent Pediatr"},{"issue":"3","key":"587_CR35","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0230677","volume":"15","author":"MC Pera","year":"2020","unstructured":"Pera MC, Coratti G, Berti B, et al. Diagnostic journey in spinal muscular atrophy: is it still an odyssey? PLoS ONE. 2020;15(3): e0230677.","journal-title":"PLoS ONE"},{"key":"587_CR36","unstructured":"Health Resources and Services Administration (HRSA). Spinal Muscular Atrophy. 2022. https:\/\/newbornscreening.hrsa.gov\/conditions\/spinal-muscular-atrophy. Accessed 9 Sept 2022."},{"key":"587_CR37","unstructured":"Cure SMA. Newborn Screening for SMA. 2022. Available from https:\/\/www.curesma.org\/newborn-screening-for-sma\/. Accessed 2 Jan 2024."},{"issue":"1","key":"587_CR38","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1007\/s00415-013-7154-1","volume":"261","author":"CL Bladen","year":"2014","unstructured":"Bladen CL, Thompson R, Jackson JM, et al. Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe. J Neurol. 2014;261(1):152\u201363.","journal-title":"J Neurol"},{"issue":"7","key":"587_CR39","doi-asserted-by":"publisher","first-page":"617","DOI":"10.1016\/j.nmd.2014.04.003","volume":"24","author":"M Jedrzejowska","year":"2014","unstructured":"Jedrzejowska M, Gos M, Zimowski JG, Kostera-Pruszczyk A, Ryniewicz B, Hausmanowa-Petrusewicz I. Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients. Neuromuscul Disord. 2014;24(7):617\u201323.","journal-title":"Neuromuscul Disord"},{"issue":"1","key":"587_CR40","doi-asserted-by":"publisher","first-page":"986","DOI":"10.1186\/s12913-018-3745-y","volume":"18","author":"J Greenwood-Lee","year":"2018","unstructured":"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.","journal-title":"BMC Health Serv Res"},{"key":"587_CR41","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1186\/1471-2288-14-62","volume":"14","author":"SK Baxter","year":"2014","unstructured":"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;14:62.","journal-title":"BMC Med Res Methodol"},{"issue":"1","key":"587_CR42","doi-asserted-by":"publisher","first-page":"576","DOI":"10.1186\/s12887-023-04400-8","volume":"23","author":"JC Bohnhoff","year":"2023","unstructured":"Bohnhoff JC, Guyon-Harris K, Schweiberger K, Ray KN. General and subspecialist pediatrician perspectives on barriers and strategies for referral: a latent profile analysis. BMC Pediatr. 2023;23(1):576.","journal-title":"BMC Pediatr"},{"key":"587_CR43","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2019-0545","author":"JC Bohnhoff","year":"2019","unstructured":"Bohnhoff JC, Taormina JM, Ferrante L, Wolfson D, Ray KN. Unscheduled referrals and unattended appointments after pediatric subspecialty referral. Pediatrics. 2019. https:\/\/doi.org\/10.1542\/peds.2019-0545.","journal-title":"Pediatrics"},{"issue":"4","key":"587_CR44","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1370\/afm.2781","volume":"20","author":"L Timmins","year":"2022","unstructured":"Timmins L, Kern LM, O\u2019Malley AS, Urato C, Ghosh A, Rich E. Communication gaps persist between primary care and specialist physicians. Ann Fam Med. 2022;20(4):343\u20137.","journal-title":"Ann Fam Med"},{"key":"587_CR45","unstructured":"Cure SMA. Cure SMA Care Center Network. 2022. Available from: https:\/\/www.curesma.org\/sma-care-center-network\/. Accessed 9 Sept 2022."},{"issue":"18","key":"587_CR46","doi-asserted-by":"publisher","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","volume":"377","author":"RS Finkel","year":"2017","unstructured":"Finkel RS, Mercuri E, Darras BT, et al. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med. 2017;377(18):1723\u201332.","journal-title":"N Engl J Med"},{"issue":"18","key":"587_CR47","doi-asserted-by":"publisher","first-page":"1713","DOI":"10.1056\/NEJMoa1706198","volume":"377","author":"JR Mendell","year":"2017","unstructured":"Mendell JR, Al-Zaidy S, Shell R, et al. Single-dose gene-replacement therapy for spinal muscular atrophy. N Engl J Med. 2017;377(18):1713\u201322.","journal-title":"N Engl J Med"},{"issue":"11","key":"587_CR48","doi-asserted-by":"publisher","first-page":"842","DOI":"10.1016\/j.nmd.2019.09.007","volume":"29","author":"DC De Vivo","year":"2019","unstructured":"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 Disord. 2019;29(11):842\u201356.","journal-title":"Neuromuscul Disord"},{"issue":"7","key":"587_CR49","doi-asserted-by":"publisher","first-page":"2771","DOI":"10.1007\/s00431-022-04476-x","volume":"181","author":"C Cutrona","year":"2022","unstructured":"Cutrona C, Pede E, De Sanctis R, et al. Assessing floppy infants: a new module. Eur J Pediatr. 2022;181(7):2771\u20138.","journal-title":"Eur J Pediatr"},{"key":"587_CR50","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1016\/B978-0-444-64029-1.00021-7","volume":"162","author":"E Mercuri","year":"2019","unstructured":"Mercuri E, Pera MC, Brogna C. Neonatal hypotonia and neuromuscular conditions. Handb Clin Neurol. 2019;162:435\u201348.","journal-title":"Handb Clin Neurol"},{"issue":"4","key":"587_CR51","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1001\/jamaneurol.2022.0067","volume":"79","author":"SU Morton","year":"2022","unstructured":"Morton SU, Christodoulou J, Costain G, et al. Multicenter consensus approach to evaluation of neonatal hypotonia in the genomic era: a review. JAMA Neurol. 2022;79(4):405\u201313.","journal-title":"JAMA Neurol"},{"issue":"7","key":"587_CR52","doi-asserted-by":"publisher","first-page":"2821","DOI":"10.1007\/s00431-022-04470-3","volume":"181","author":"M Pane","year":"2022","unstructured":"Pane M, Donati MA, Cutrona C, et al. Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening. Eur J Pediatr. 2022;181(7):2821\u20139.","journal-title":"Eur J Pediatr"},{"issue":"2","key":"587_CR53","doi-asserted-by":"publisher","first-page":"97","DOI":"10.3233\/JND-190468","volume":"7","author":"J Glascock","year":"2020","unstructured":"Glascock J, Sampson J, Connolly AM, 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\u2013100.","journal-title":"J Neuromuscul Dis"},{"issue":"2","key":"587_CR54","doi-asserted-by":"publisher","first-page":"145","DOI":"10.3233\/JND-180304","volume":"5","author":"J Glascock","year":"2018","unstructured":"Glascock J, Sampson J, Haidet-Phillips A, et al. Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening. J Neuromuscul Dis. 2018;5(2):145\u201358.","journal-title":"J Neuromuscul Dis"},{"key":"587_CR55","unstructured":"Kemper AR, Lam KK. Review of newborn screening implementation for spinal muscular atrophy final report 2020."},{"key":"587_CR56","volume-title":"Genereviews","author":"TW Prior","year":"2020","unstructured":"Prior TW, Leach ME, Finanger E, et al. Spinal muscular atrophy. In: Adam MP, Pagon RA, et al., editors. Genereviews. WA: University of Washington, Seattle; 2020."},{"key":"587_CR57","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1016\/j.pediatrneurol.2021.09.011","volume":"125","author":"RA Shellhaas","year":"2021","unstructured":"Shellhaas RA, deVeber G, Bonkowsky JL, Child Neurology Society Research C. Gene-targeted therapies in pediatric neurology: challenges and opportunities in diagnosis and delivery. Pediatr Neurol. 2021;125:53\u20137.","journal-title":"Pediatr Neurol"},{"issue":"6","key":"587_CR58","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1016\/j.nmd.2021.03.002","volume":"31","author":"Y Cao","year":"2021","unstructured":"Cao Y, Cheng M, Qu Y, et al. Factors associated with delayed diagnosis of spinal muscular atrophy in China and changes in diagnostic delay. Neuromuscul Disord. 2021;31(6):519\u201327.","journal-title":"Neuromuscul Disord"},{"issue":"5","key":"587_CR59","doi-asserted-by":"publisher","first-page":"625","DOI":"10.1111\/dmcn.15117","volume":"64","author":"AM D\u2019Silva","year":"2022","unstructured":"D\u2019Silva AM, Kariyawasam DST, Best S, Wiley V, Farrar MA, Group NSNS. Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme. Dev Med Child Neurol. 2022;64(5):625\u201332.","journal-title":"Dev Med Child Neurol"},{"issue":"3","key":"587_CR60","doi-asserted-by":"publisher","DOI":"10.1097\/pq9.0000000000000566","volume":"7","author":"SS Vora","year":"2022","unstructured":"Vora SS, Buitrago-Mogollon TL, Mabus SC. A quality improvement approach to ensuring access to specialty care for pediatric patients. Pediatr Qual Saf. 2022;7(3): e566.","journal-title":"Pediatr Qual Saf"},{"issue":"7","key":"587_CR61","doi-asserted-by":"publisher","first-page":"797","DOI":"10.1016\/j.acap.2018.03.010","volume":"18","author":"CJ Rea","year":"2018","unstructured":"Rea CJ, Wenren LM, Tran KD, et al. Shared care: using an electronic consult form to facilitate primary care provider-specialty care coordination. Acad Pediatr. 2018;18(7):797\u2013804.","journal-title":"Acad Pediatr"},{"issue":"5","key":"587_CR62","volume":"19","author":"V Patterson","year":"2010","unstructured":"Patterson V, Humphreys J, Henderson M, Crealey G. Email triage is an effective, efficient and safe way of managing new referrals to a neurologist. Qual Saf Health Care. 2010;19(5): e51.","journal-title":"Qual Saf Health Care"},{"key":"587_CR63","doi-asserted-by":"publisher","DOI":"10.1136\/bmjquality.u209266.w4648","author":"K Mohamed","year":"2017","unstructured":"Mohamed K, Al Houri B, Ibrahim K, Khair AM. Improving access for urgent patients in paediatric neurology. BMJ Qual Improv Rep. 2017. https:\/\/doi.org\/10.1136\/bmjquality.u209266.w4648.","journal-title":"BMJ Qual Improv Rep"},{"key":"587_CR64","unstructured":"Cure SMA. SMArt Moves. 2022. https:\/\/smartmoves.curesma.org\/. Accessed 9 Sept 2023."}],"container-title":["Neurology and Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s40120-024-00587-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s40120-024-00587-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s40120-024-00587-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,29]],"date-time":"2024-05-29T07:32:17Z","timestamp":1716967937000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s40120-024-00587-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,2]]},"references-count":64,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,6]]}},"alternative-id":["587"],"URL":"https:\/\/doi.org\/10.1007\/s40120-024-00587-9","relation":{},"ISSN":["2193-8253","2193-6536"],"issn-type":[{"value":"2193-8253","type":"print"},{"value":"2193-6536","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,2]]},"assertion":[{"value":"14 November 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 February 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 March 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Jill Jarecki was an employee of Cure SMA at the time of this study and is currently an employee of BioMarin Pharmaceuticals, Inc. Ros\u00e1ngel Cruz was an employee of Cure SMA at the time of this study; the author has nothing to disclose. Mary Curry, Lisa Belter, and Mary Schroth have nothing to disclose.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}},{"value":"Prior to distribution, WIRB-Copernicus Group Institutional Review Board (WCG IRB) determined that the study was exempt from full IRB review and granted a consent waiver. All respondents were informed via the Cure SMA privacy policy that findings may be published. Only aggregate results are included within the manuscript. All procedures performed involving human participants were in accordance with the ethical standards of the institutional and\/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical Approval"}}]}}