{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T00:51:39Z","timestamp":1787964699522,"version":"build-2784847793"},"reference-count":41,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,8,1]],"date-time":"2022-08-01T00:00:00Z","timestamp":1659312000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100010237","name":"National Society of Genetic Counselors","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010237","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008519","name":"University of Arkansas for Medical Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008519","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Newborn screening (NBS) for Pompe disease (PD) was added to the Recommended Uniform Screening Panel (RUSP) in the United States in 2015 because there was compelling evidence of health benefits for early diagnosis of Infantile\u2010onset Pompe disease (IOPD). However, one limitation of NBS for PD is its inability to distinguish IOPD and late onset forms of Pompe disease (LOPD). Management of LOPD is challenging because of uncertainty around progression of LOPD and determining the appropriate time for treatment initiation. The aims of this study were to understand the impact of LOPD identified through NBS, by exploring the differences in attitudes, emotions and opinions among parents and identify their needs for follow\u2010up care. Study participants were recruited from states that included PD on their NBS panel. Semi\u2010structured interviews were conducted with parents of nine children who were diagnosed with LOPD after an abnormal NBS result. Predominantly, parents reported a lack of adequate information, guidance, and psychosocial support from the very beginning and through the course of their diagnosis. This caused uncertainty, anxiety, frustration, and fear of the unknown. Parents live in a \u2018worry or not to worry\u2019 phase, balancing between coping methods to avoid over medicalization of their child, but also preparing concrete follow\u2010up plans to be on the lookout for any signs of PD\u2010related symptoms. Understanding parents' experiences allows genetic counselors and NBS programs to proactively design care plan for parents during this difficult period.<\/jats:p>","DOI":"10.1002\/jgc4.1615","type":"journal-article","created":{"date-parts":[[2022,8,2]],"date-time":"2022-08-02T06:55:24Z","timestamp":1659423324000},"page":"1404-1420","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Newborn screening for Pompe disease: Parental experiences and follow\u2010up care for a late\u2010onset diagnosis"],"prefix":"10.1002","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9478-2565","authenticated-orcid":false,"given":"Supraja","family":"Prakash","sequence":"first","affiliation":[{"name":"Department of Genetics and Metabolism Phoenix Children's Hospital  Phoenix Arizona USA"},{"name":"Department of Genetic Counseling The University of Arkansas for Medical Sciences  Little Rock Arkansas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy D.","family":"Penn","sequence":"additional","affiliation":[{"name":"College of Education University of Iowa  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly E.","family":"Jackson","sequence":"additional","affiliation":[{"name":"The University of Louisville School of Medicine, Norton Children's Genetics Group  Louisville Kentucky USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lori Williamson","family":"Dean","sequence":"additional","affiliation":[{"name":"Department of Genetic Counseling The University of Arkansas for Medical Sciences  Little Rock Arkansas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,8]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/jpepsy\/jsn032"},{"issue":"8","key":"e_1_2_11_3_1","first-page":"497","article-title":"Clinical guidelines for late\u2010onset Pompe disease","volume":"54","author":"Barba\u2010Romero M. A.","year":"2012","journal-title":"Nature Reviews Neurology"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0020-7489(94)90060-4"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2016-0280D"},{"key":"e_1_2_11_6_1","volume-title":"Long\u2010term follow\u2010up in newborn screening: An update on ACMGs Work on the NBSTRN and NCC","author":"Brower A.","year":"2015"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns7030037"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.12.004"},{"key":"e_1_2_11_9_1","volume-title":"Constructing grounded theory: A practical guide through qualitative analysis","author":"Charmaz C.","year":"2006"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedneo.2013.03.009"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2014.10.068"},{"key":"e_1_2_11_12_1","volume-title":"Qualitative inquiry and research design: Choosing among five traditions","author":"Creswell J.","year":"1998"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ncl.2014.04.010"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2019.11.099"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2021.09.001"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns6040089"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12566"},{"key":"e_1_2_11_18_1","volume-title":"Symposium conducted at the Annual Clinical Genetics Meeting of the American College of Medical Genetics and Genomics","author":"Grange K. D.","year":"2016"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns6020048"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3182209f09"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.161.10.994"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.98"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31324"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2016-0280B"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns6010011"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2016-0280E"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12062"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.07.009"},{"key":"e_1_2_11_29_1","volume-title":"Qualitative data analysis: A sourcebook of new methods","author":"Miles M. B.","year":"1994"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.4135\/9781412995658"},{"key":"e_1_2_11_31_1","unstructured":"NewSTEPs. (n.d.). Retrieved on May 5 2018 fromhttps:\/\/www.newsteps.org\/"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2021.100734"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0749-2081(00)80008-X"},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0036-1593843"},{"key":"e_1_2_11_35_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4615-6989-3_3"},{"key":"e_1_2_11_36_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-018-0159-2"},{"key":"e_1_2_11_37_1","unstructured":"Recommended Uniform Screening Panel. (n.d.). Retrieved on May 5 2018 fromhttps:\/\/www.hrsa.gov\/advisory\u2010committees\/heritable\u2010disorders\/rusp\/index.html"},{"key":"e_1_2_11_38_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns6010001"},{"key":"e_1_2_11_39_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns6020031"},{"key":"e_1_2_11_40_1","doi-asserted-by":"publisher","DOI":"10.15585\/mmwr.mm6936a6"},{"key":"e_1_2_11_41_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2431-14-203"},{"key":"e_1_2_11_42_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns6010022"}],"container-title":["Journal of Genetic Counseling"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jgc4.1615","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jgc4.1615","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jgc4.1615","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T19:13:32Z","timestamp":1692645212000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jgc4.1615"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8]]},"references-count":41,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["10.1002\/jgc4.1615"],"URL":"https:\/\/doi.org\/10.1002\/jgc4.1615","archive":["Portico"],"relation":{},"ISSN":["1059-7700","1573-3599"],"issn-type":[{"value":"1059-7700","type":"print"},{"value":"1573-3599","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8]]},"assertion":[{"value":"2021-03-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-06-21","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-08-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}