{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T06:08:11Z","timestamp":1790662091958,"version":"4.1.0"},"reference-count":35,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2020,9,2]],"date-time":"2020-09-02T00:00:00Z","timestamp":1599004800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100013995","name":"Sanofi Genzyme","doi-asserted-by":"publisher","award":["17472"],"award-info":[{"award-number":["17472"]}],"id":[{"id":"10.13039\/100013995","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Two lysosomal storage disorders (LSDs), Pompe disease and Mucopolysaccharidosis type I (MPSI) were added to the Recommended Uniform Screening Panel (RUSP) for newborn screening (NBS) in 2015 and 2016, respectively. These conditions are being screened with variable practice in terms of primary and reflex analytes (either biochemical or molecular testing) as well as collection of short- and long-term follow-up elements. The goal of this study is to evaluate practices of state health departments in regards to screening methods and follow-up data collected. We conducted online surveys and phone questionnaires to determine each U.S. state\u2019s practices for screening and follow-up of positive newborn screens. We report the first snapshot of practices for NBS for the LSDs included on the RUSP. All 50 U.S. states responded to our survey. The majority of U.S. states are not currently screening for Pompe disease and MPSI as of March 2020, but this number will increase to 38 states in the coming 1\u20133 years based on survey results. Our survey identifies data elements used by state health departments for short-and long-term follow-up that could serve as the basis of common elements for larger, public health-based analyses of the benefits and efficacy of screening for Pompe disease and MPSI.<\/jats:p>","DOI":"10.3390\/ijns6030072","type":"journal-article","created":{"date-parts":[[2020,9,2]],"date-time":"2020-09-02T09:29:28Z","timestamp":1599038968000},"page":"72","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI"],"prefix":"10.3390","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0428-1909","authenticated-orcid":false,"given":"Elizabeth G.","family":"Ames","sequence":"first","affiliation":[{"name":"Division of Pediatric Genetics, Metabolism and Genomic Medicine, Department of Pediatrics, University of Michigan Health System, D5240 Medical Professional Building, 1500 E. Medical Center Dr, Ann Arbor, MI 48109, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Fisher","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetics, Metabolism and Genomic Medicine, Department of Pediatrics, University of Michigan Health System, D5240 Medical Professional Building, 1500 E. Medical Center Dr, Ann Arbor, MI 48109, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"Kleyn","sequence":"additional","affiliation":[{"name":"Newborn Screening Follow-up Section, Michigan Department of Health and Human Services, 333 South Grand Avenue, Lansing, MI 48933, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayesha","family":"Ahmad","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetics, Metabolism and Genomic Medicine, Department of Pediatrics, University of Michigan Health System, D5240 Medical Professional Building, 1500 E. Medical Center Dr, Ann Arbor, MI 48109, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,9,2]]},"reference":[{"key":"ref_1","unstructured":"(2020, June 01). Executive Summary of Adding Pompe to RUSP, Available online: https:\/\/www.hrsa.gov\/sites\/default\/files\/hrsa\/advisory-committees\/heritable-disorders\/rusp\/previous-nominations\/pompe-exsum.pdf."},{"key":"ref_2","unstructured":"(2020, June 01). Executive Summary of Adding MPSI to RUSP, Available online: https:\/\/www.hrsa.gov\/sites\/default\/files\/hrsa\/advisory-committees\/heritable-disorders\/rusp\/previous-nominations\/mps-i-exsum.pdf."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1038\/gim.2018.29","article-title":"Long-term outcomes of systemic therapies for Hurler syndrome: An international multicenter comparison","volume":"20","author":"Eisengart","year":"2018","journal-title":"Genet. 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