{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T21:28:30Z","timestamp":1785533310405,"version":"3.56.0"},"reference-count":30,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,3,28]],"date-time":"2018-03-28T00:00:00Z","timestamp":1522195200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2018,3,28]],"date-time":"2018-03-28T00:00:00Z","timestamp":1522195200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pompe disease (PD) is an autosomal recessive lysosomal storage disorder causing progressive glycogen accumulation in muscles, with variability in age of onset and severity. For infantile\u2010onset PD (IOPD), initiation of early treatment can be life\u2010saving; however, current newborn screening (NBS) technology cannot distinguish IOPD from late\u2010onset PD (LOPD) without clinical workup. Therefore, families of LOPD infants diagnosed by NBS may now spend years or even decades aware of their illness before symptoms appear, creating a pre\u2010symptomatic awareness phase with which the medical community has little experience. The present study examines the effects of receiving a positive NBS result for PD on families. In\u2010depth qualitative interviews were conducted with mothers of nine children (three IOPD and six LOPD) diagnosed via NBS, exploring their experiences, understanding of PD, how they are coping, and what impact diagnosis is having on family life. Interviews were coded using MaxQDA v.12 and analyzed for thematic trends. While overall opinion of NBS was favorable, it is clear many of the concerns anticipated by HCPs, patients, and families regarding NBS for late\u2010onset LSDs are being realized to varying degrees; LOPD families are becoming patients\u2010in\u2010waiting. Increased fear\/anxiety and living with uncertainty (regarding diagnosis, their children's future, and when to start treatment) were predominant themes, with all families voicing considerable emotional reactions and varied social and healthcare support concerns. Coping strategies and psychosocial challenges are interpreted using Rolland &amp; Williams\u2019 Family Systems Genetic Illness model. Recommendations for improvement in delivery of service, as well as families\u2019 advice for future parents and HCPs, are discussed.<\/jats:p>","DOI":"10.1007\/s10545-018-0159-2","type":"journal-article","created":{"date-parts":[[2018,3,28]],"date-time":"2018-03-28T13:32:24Z","timestamp":1522243944000},"page":"1189-1203","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":42,"title":["Newborn screening for Pompe disease: impact on families"],"prefix":"10.1002","volume":"41","author":[{"given":"B.","family":"Pruniski","sequence":"first","affiliation":[{"name":"Department of Human Genetics Emory University School of Medicine 2165 N. Decatur Road Decatur GA 30030 USA"},{"name":"Division of Genetics &amp; Metabolism Phoenix Children's Medical Group 1919E Thomas Road Phoenix AZ 85016 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Lisi","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Emory University School of Medicine 2165 N. Decatur Road Decatur GA 30030 USA"},{"name":"Center for Individualized Medicine Mayo Clinic Harwick\u20103, 205 3rd Ave SW Rochester MN 55902 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Ali","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Emory University School of Medicine 2165 N. 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