{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T00:07:37Z","timestamp":1793837257916,"version":"4.6.1"},"reference-count":29,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,11,28]],"date-time":"2021-11-28T00:00:00Z","timestamp":1638057600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP1194940"],"award-info":[{"award-number":["APP1194940"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>This study dynamically designed, evaluated, and implemented the components of an Australian newborn bloodspot screening (NBS) pilot programme for spinal muscular atrophy (SMA).<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We used an implementation\u2010effectiveness study design and continuous interdisciplinary review to measure SMA NBS test protocol performance, identify and overcome laboratory and clinical barriers to implementation, and describe progress during the 2\u2010year pilot study.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The NBS programme screened 252\u2009081 newborn infants from 1st August 2018 to 31st January 2021. Using an NBS pilot test protocol, 21 infants were diagnostically confirmed with SMA. The NBS pilot test protocol had a sensitivity of 100%, specificity greater than 99.9%, false\u2010positive rate less than 0.001%, a false\u2010negative rate of 0%, and positive predictive value of 95.5%. A severe phenotype was predicted on the basis of two copies of <jats:italic>SMN2<\/jats:italic> in 57.2% of newborn infants screening positive for SMA. Clinical signs consistent with SMA were evident in 6 out of 21 screen\u2010positive newborn infants within the first 4\u2009weeks of life. A multidisciplinary team establishing strong partnerships across clinical and laboratory staff was key to implementation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>This pilot programme suggests that NBS is essential for early identification of newborn infants at risk of SMA and can be effectively translated into clinical practice.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.15117","type":"journal-article","created":{"date-parts":[[2021,11,28]],"date-time":"2021-11-28T13:03:00Z","timestamp":1638104580000},"page":"625-632","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":60,"title":["Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme"],"prefix":"10.1111","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6265-3053","authenticated-orcid":false,"given":"Arlene M","family":"D'Silva","sequence":"first","affiliation":[{"name":"Department of Neurology Sydney Children\u2019s Hospital Network Sydney New South Wales Australia"},{"name":"School of Women\u2019s and Children\u2019s Health University of New South Wales Medicine and Health University of New South Wales Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Didu S T","family":"Kariyawasam","sequence":"additional","affiliation":[{"name":"Department of Neurology Sydney Children\u2019s Hospital Network Sydney New South Wales Australia"},{"name":"School of Women\u2019s and Children\u2019s Health University of New South Wales Medicine and Health University of New South Wales Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Best","sequence":"additional","affiliation":[{"name":"Australian Institute of Health Innovation Macquarie University Sydney New South Wales Australia"},{"name":"Australian Genomics Murdoch Children\u2019s Research Institute Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronica","family":"Wiley","sequence":"additional","affiliation":[{"name":"NSW Newborn Screening Programme Children\u2019s Hospital Westmead Westmead New South Wales Australia"},{"name":"Discipline of Child and Adolescent Health Sydney Medical School Faculty of Medicine and Health University of Sydney Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4472-0902","authenticated-orcid":false,"given":"Michelle A","family":"Farrar","sequence":"additional","affiliation":[{"name":"Department of Neurology Sydney Children\u2019s Hospital Network Sydney New South Wales Australia"},{"name":"School of Women\u2019s and Children\u2019s Health University of New South Wales Medicine and Health University of New South Wales Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"NSW SMA NBS Study Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,11,28]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1080\/00313020701813743"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41582-020-00410-7"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2019.09.007"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2019.02.003"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-190428"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2017.06.042"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.03.007"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns6020035"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.2471\/BLT.07.050112"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0673-0"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/MLR.0b013e3182408812"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmjqs-2015-004411"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/chp.47"},{"key":"e_1_2_9_15_1","unstructured":"Newborn Bloodspot Screening National Policy Framework[Internet];2018.https:\/\/www.health.gov.au\/resources\/publications\/newborn\u2010bloodspot\u2010screening\u2010national\u2010policy\u2010framework. Accessed 17th Dec 2020."},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2021-326344"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.134"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2019.02.003"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-190428"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01783-8"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1037\/0012-1649.22.6.723"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMsb1503104"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000530"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eclinm.2021.100742"},{"key":"e_1_2_9_25_1","unstructured":"Department of Health. Australian Health Ministers Advisory Council.Newborn bloodspot screening national policy framework;2018. p.1\u201373."},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1136\/ewjm.172.2.124"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.11.004"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.11.005"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201821"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.152"}],"container-title":["Developmental Medicine &amp; Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/dmcn.15117","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/dmcn.15117","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/dmcn.15117","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,7]],"date-time":"2024-02-07T10:01:36Z","timestamp":1707300096000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/dmcn.15117"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,28]]},"references-count":29,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2022,5]]}},"alternative-id":["10.1111\/dmcn.15117"],"URL":"https:\/\/doi.org\/10.1111\/dmcn.15117","archive":["Portico"],"relation":{},"ISSN":["0012-1622","1469-8749"],"issn-type":[{"value":"0012-1622","type":"print"},{"value":"1469-8749","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,11,28]]},"assertion":[{"value":"2021-05-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-11-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-11-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}