{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T01:10:35Z","timestamp":1777857035825,"version":"3.51.4"},"reference-count":27,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T00:00:00Z","timestamp":1661990400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2022,9,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Universal spinal muscular atrophy (SMA) newborn screening was implemented in California on June 24, 2020.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>We describe California\u2019s experience with the first 18 months of SMA newborn screening, including our assay methodology, timeliness of screening and follow-up milestones, and clinical and epidemiological outcomes observed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>Dried blood spots are screened for SMA using multiplex real time polymerase chain reaction (RT-PCR) to detect deletions of exon 7 in the survival of motor neuron 1 ( SMN1) gene. Short-term follow-up data is collected from clinical staff via an online data collection tool.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>In the first 18 months, 628,791 newborns from California\u2019s diverse population were tested for SMA. Thirty-four screened positive and were confirmed to have the disorder. Infants were referred, diagnosed, and treated at a median of 8, 12, and 33 days of life, respectively. Nearly all infants received the desired treatment modality, and 62% received treatment while still asymptomatic.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>SMA newborn screening is a highly sensitive and specific test which identifies infants with SMA early when treatment is most effective. Even with newborn screening\u2019s success in facilitating early intervention, there is still work to be done to expedite treatment, especially for infants with the most severe form of the disease.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3233\/jnd-221561","type":"journal-article","created":{"date-parts":[[2022,10,18]],"date-time":"2022-10-18T11:46:43Z","timestamp":1666093603000},"page":"777-785","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":19,"title":["California\u2019s experience with SMA newborn screening: A successful path to early intervention"],"prefix":"10.1177","volume":"9","author":[{"given":"Jamie","family":"Matteson","sequence":"first","affiliation":[{"name":"Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cindy H.","family":"Wu","sequence":"additional","affiliation":[{"name":"Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deepika","family":"Mathur","sequence":"additional","affiliation":[{"name":"Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hao","family":"Tang","sequence":"additional","affiliation":[{"name":"Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stanley","family":"Sciortino","sequence":"additional","affiliation":[{"name":"Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa","family":"Feuchtbaum","sequence":"additional","affiliation":[{"name":"Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tracey","family":"Bishop","sequence":"additional","affiliation":[{"name":"Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sudhir C.","family":"Sharma","sequence":"additional","affiliation":[{"name":"Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Partha","family":"Neogi","sequence":"additional","affiliation":[{"name":"Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ina","family":"Fitzgibbon","sequence":"additional","affiliation":[{"name":"Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard S.","family":"Olney","sequence":"additional","affiliation":[{"name":"Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2022,10,15]]},"reference":[{"key":"ref001","unstructured":"Rare Disease Database: Spinal Muscular Atrophy [Available from: https:\/\/rarediseases.org\/rare-diseases\/spinal-muscular-atrophy\/."},{"key":"ref002","doi-asserted-by":"publisher","DOI":"10.18553\/jmcp.2018.24.12-a.s3"},{"key":"ref003","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-71"},{"key":"ref004","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9"},{"key":"ref005","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.134"},{"key":"ref006","unstructured":"baby\u2019s first test: Spinal Muscular Atrophy [Available from: https:\/\/www.babysfirsttest.org\/newborn-screening\/conditions\/spinal-muscular-atrophy."},{"key":"ref007","doi-asserted-by":"publisher","DOI":"10.3233\/JND-180304"},{"key":"ref008","doi-asserted-by":"publisher","DOI":"10.3233\/JND-190468"},{"key":"ref009","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2020.01.003"},{"key":"ref010","doi-asserted-by":"publisher","DOI":"10.3390\/jcm9072222"},{"key":"ref011","doi-asserted-by":"publisher","DOI":"10.3390\/ijns7020026"},{"key":"ref012","unstructured":"Recommended Uniform Screening Panel [updated February 06, 2020. Available from: https:\/\/www.hrsa.gov\/advisorycommittees\/heritable-disorders\/rusp\/index.html."},{"key":"ref013","unstructured":"Recommendations to HHS Secretary with Responses [updated January 2021. Available from: https:\/\/www.hrsa.gov\/advisory-committees\/heritable-disorders\/recommendations-reports\/index.html."},{"key":"ref014","unstructured":"[Available from: https:\/\/leginfo.legislature.ca.gov\/faces\/codesdisplaySection.xhtml?lawCode=HSC&sectionNum=125001."},{"key":"ref015","unstructured":"Cure SMA: Newborn Screening for SMA: Cure MA: Newborn Screening for SMA; [Available from: https:\/\/www.curesma.org\/newborn-screening-for-sma."},{"key":"ref016","doi-asserted-by":"publisher","DOI":"10.3390\/ijns7030033"},{"key":"ref017","unstructured":"MercerK, Newborn screening for spinal muscular atrophy. APHL Newborn Screening Symposium. 2017."},{"key":"ref018","unstructured":"LeeF, Newborn screening for spinal muscular atrophy (SMA) in the US. APHL\u2019s Spinal Muscular Atrophy: Overview of Available Screening Methods. 2018;2018."},{"key":"ref019","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.199"},{"key":"ref020","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0824-3"},{"key":"ref021","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0673-0"},{"key":"ref022","doi-asserted-by":"publisher","DOI":"10.3233\/JND-190428"},{"key":"ref023","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0671-8"},{"issue":"9","key":"ref024","first-page":"641","volume":"46","author":"Hendrickson BC","year":"2009","journal-title":"Journal of MedicalGenetics"},{"key":"ref025","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318188d069"},{"key":"ref026","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000001952"},{"key":"ref027","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2015.06.002"}],"container-title":["Journal of Neuromuscular Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.3233\/JND-221561","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.3233\/JND-221561","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.3233\/JND-221561","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T23:50:03Z","timestamp":1777506603000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.3233\/JND-221561"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,1]]},"references-count":27,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2022,9,1]]}},"alternative-id":["10.3233\/JND-221561"],"URL":"https:\/\/doi.org\/10.3233\/jnd-221561","relation":{},"ISSN":["2214-3599","2214-3602"],"issn-type":[{"value":"2214-3599","type":"print"},{"value":"2214-3602","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,1]]}}}