{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T13:22:23Z","timestamp":1769606543951,"version":"3.49.0"},"reference-count":12,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2019,5,15]],"date-time":"2019-05-15T00:00:00Z","timestamp":1557878400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Early\u2010infantile Krabbe disease (<jats:styled-content style=\"fixed-case\">EIKD<\/jats:styled-content>) is an autosomal recessive, progressive, neurodegenerative disorder that usually leads to death in infancy. A study published in 2005 indicated that hematopoietic stem\u2010cell transplantation (<jats:styled-content style=\"fixed-case\">HSCT<\/jats:styled-content>) was effective in the treatment for <jats:styled-content style=\"fixed-case\">EIKD<\/jats:styled-content> when used before the onset of symptoms. This finding suggested that newborn screening for <jats:styled-content style=\"fixed-case\">EIKD<\/jats:styled-content>, which would allow earlier diagnosis, might lead to earlier treatment and better outcomes. In 2006, New York was the first state to implement newborn screening for Krabbe disease; however, the results were not as good as proponents had hoped. In this paper, we present the history of efforts to diagnose and treat <jats:styled-content style=\"fixed-case\">EIKD<\/jats:styled-content>. Based on our findings, we question the efficacy of newborn screening for Krabbe disease. We present two arguments. First, testing itself is too imprecise. Even with the most rigorous testing standards, such as those used in New York, many of the children who are identified as being \u2018at risk\u2019 for <jats:styled-content style=\"fixed-case\">EIKD<\/jats:styled-content> remain asymptomatic. It is unclear if they will remain asymptomatic forever and, thus, whether the tests should be considered \u2018false positives\u2019, or whether they will eventually develop the disease. Second, we question the efficacy of early <jats:styled-content style=\"fixed-case\">HSCT<\/jats:styled-content>. We recommend placing a moratorium on mandatory newborn screening for <jats:styled-content style=\"fixed-case\">EIKD<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>What this paper adds<\/jats:title><jats:p>\n<jats:list list-type=\"bullet\">\n\n<jats:list-item><jats:p>Current tests to identify which children are likely to develop Krabbe diseased are inadequate.<\/jats:p><\/jats:list-item>\n\n<jats:list-item><jats:p>Many children identified as being \u2018at risk\u2019 for early infantile Krabbe disease remain asymptomatic.<\/jats:p><\/jats:list-item>\n\n<jats:list-item><jats:p>Psychosine appears to be more specific than low galactosylceramidase levels for diagnosing early infantile Krabbe disease.<\/jats:p><\/jats:list-item>\n<\/jats:list>\n<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.14258","type":"journal-article","created":{"date-parts":[[2019,5,15]],"date-time":"2019-05-15T13:07:36Z","timestamp":1557925656000},"page":"1358-1361","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Ethical issues with testing and treatment for Krabbe disease"],"prefix":"10.1111","volume":"61","author":[{"given":"Paul","family":"Ehmann","sequence":"first","affiliation":[{"name":"Department of Bioethics University of Pennsylvania Philadelphia PA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6553-3874","authenticated-orcid":false,"given":"John D","family":"Lantos","sequence":"additional","affiliation":[{"name":"Children's Mercy Bioethics Center Children's Mercy Hospital Kansas City MO USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,5,15]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"3669","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Wenger DA","year":"2001"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa042604"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2009.01.022"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.211"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.35"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-018-0766-x"},{"key":"e_1_2_7_8_1","unstructured":"OrsiniJJ EscolarML WassersteinMP et\u00a0al.Krabbe disease. In:AdamMP ArdingerHH PagonRA et\u00a0al. editors. GeneReviews\u00ae[Internet].Seattle (WA):University of Washington Seattle; 1993\u20132019.https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1238\/(accessed 10 April 2019)."},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000004418"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.6"},{"key":"e_1_2_7_11_1","unstructured":"KnappAA KemperAR PerrinJM.Evidence review: Krabbe disease. Recommended Uniform Screening Panel. 21 December 2009.https:\/\/www.hrsa.gov\/sites\/default\/files\/hrsa\/advisory-committees\/heritable-disorders\/rusp\/previous-nominations\/krabbe-disease-evidence-review-report.pdf(accessed 10 April 2019)."},{"key":"e_1_2_7_12_1","unstructured":"HowellRR.Letter from Committee to Ms. Jacque Waggoner.Rockville MA:Department of Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and Children 2010.https:\/\/www.hrsa.gov\/sites\/default\/files\/hrsa\/advisory-committees\/heritable-disorders\/rusp\/previous-nominations\/krabbe-letter-from-committee.pdf(accessed 10 April 2019)."},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9435-0"}],"container-title":["Developmental Medicine &amp; Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fdmcn.14258","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/dmcn.14258","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/dmcn.14258","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/dmcn.14258","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,8]],"date-time":"2023-09-08T21:51:40Z","timestamp":1694209900000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/dmcn.14258"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,5,15]]},"references-count":12,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["10.1111\/dmcn.14258"],"URL":"https:\/\/doi.org\/10.1111\/dmcn.14258","archive":["Portico"],"relation":{},"ISSN":["0012-1622","1469-8749"],"issn-type":[{"value":"0012-1622","type":"print"},{"value":"1469-8749","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,5,15]]},"assertion":[{"value":"2019-03-15","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-05-15","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}