{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T23:09:42Z","timestamp":1773184182599,"version":"3.50.1"},"reference-count":42,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,9,7]],"date-time":"2021-09-07T00:00:00Z","timestamp":1630972800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100005468","name":"Batten Disease Support and Research Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005468","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011516","name":"Beyond Batten Disease Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011516","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["P50HD103536"],"award-info":[{"award-number":["P50HD103536"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["U01NS101946"],"award-info":[{"award-number":["U01NS101946"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["K12NS066098"],"award-info":[{"award-number":["K12NS066098"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["U54NS065768"],"award-info":[{"award-number":["U54NS065768"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R01NS060022"],"award-info":[{"award-number":["R01NS060022"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011125","name":"School of Medicine and Dentistry, University of Rochester","doi-asserted-by":"publisher","award":["Wilbur Smith Pediatric Neurology Fund"],"award-info":[{"award-number":["Wilbur Smith Pediatric Neurology Fund"]}],"id":[{"id":"10.13039\/100011125","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Over the past 20\u2009years, diagnostic testing for genetic diseases has evolved, leading to variable diagnostic certainty for individuals included in long\u2010term natural history studies. Using genotype and phenotype data from an ongoing natural history study of CLN3 disease, we developed a hierarchical diagnostic confidence scheme with three major classes: Definite, Probable, or Possible CLN3 disease. An additional level, CLN3 Disease PLUS, includes individuals with CLN3 disease plus an additional disorder with a separate etiology that substantially affects the phenotype. Within the Definite and Probable CLN3 disease classes, we further divided individuals into subclasses based on phenotype. After assigning participants to classes, we performed a blinded reclassification to assess the reliability of this scheme. A total of 134 individuals with suspected CLN3 disease were classified: 100 as Definite, 21 as Probable, and 7 as Possible. Six individuals were classified as CLN3\u2010PLUS. Phenotypes included the classical juvenile\u2010onset syndromic phenotype, a \u201cvision loss only\u201d phenotype, and an atypical syndromic phenotype. Some individuals were too young to fully classify phenotype. Test\u2010retest reliability showed 96% agreement. We created a reliable diagnostic confidence scheme for CLN3 disease that has excellent face validity. This scheme has implications for clinical research in CLN3 and other rare genetic neurodegenerative disorders.<\/jats:p>","DOI":"10.1002\/jimd.12429","type":"journal-article","created":{"date-parts":[[2021,8,28]],"date-time":"2021-08-28T07:10:25Z","timestamp":1630134625000},"page":"1453-1462","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A diagnostic confidence scheme for <scp>CLN3<\/scp> disease"],"prefix":"10.1002","volume":"44","author":[{"given":"Margaux C.","family":"Masten","sequence":"first","affiliation":[{"name":"Department of Neurology University of Rochester  Rochester New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Camille","family":"Corre","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester  Rochester New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alex R.","family":"Paciorkowski","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester  Rochester New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy","family":"Vierhile","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester  Rochester New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heather R.","family":"Adams","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester  Rochester New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Vermilion","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester  Rochester New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grace A.","family":"Zimmerman","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester  Rochester New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erika F.","family":"Augustine","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester  Rochester New York USA"},{"name":"Kennedy Krieger Institute  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7867-3710","authenticated-orcid":false,"given":"Jonathan W.","family":"Mink","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester  Rochester New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,9,7]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-019-1879-7"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525-020-00154-9"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31825f0547"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200011000-00002"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12634"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318237f649"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000169019.41332.8a"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaophthalmol.2017.1401"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21624"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90274-0"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.5.735"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.859"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2012.11.014"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02889252"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.12.1041"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/514846"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(17)30470-2"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26424"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.045906"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2015-1807"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1525-1578(10)60519-3"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000009454"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9421-6"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-018-0143-x"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073813494268"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36605"},{"key":"e_1_2_11_29_1","first-page":"1","article-title":"Estimated prevalence of children with diagnosed developmental disabilities in the United States, 2014\u20102016","volume":"291","author":"Zablotsky B","year":"2017","journal-title":"NCHS Data Brief"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000147298.05983.50"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2020.03.026"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318228c15f"},{"key":"e_1_2_11_33_1","unstructured":"OrsiniJJ EM WassersteinMP CagganaM. Krabbe Disease. GeneReviews\u00ae [Internet] 2000 Jun 19 [Updated 2018 Oct 11];https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1238\/."},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2012.02.023"},{"key":"e_1_2_11_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12007"},{"key":"e_1_2_11_36_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000011047"},{"key":"e_1_2_11_37_1","doi-asserted-by":"publisher","DOI":"10.3389\/fmed.2020.576221"},{"key":"e_1_2_11_38_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1022535930009"},{"key":"e_1_2_11_39_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.56.3.295"},{"key":"e_1_2_11_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1220"},{"key":"e_1_2_11_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.07.011"},{"key":"e_1_2_11_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.12.058"},{"key":"e_1_2_11_43_1","doi-asserted-by":"publisher","DOI":"10.1111\/jpc.15250"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12429","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jimd.12429","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12429","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T13:51:26Z","timestamp":1692971486000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jimd.12429"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,7]]},"references-count":42,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2021,11]]}},"alternative-id":["10.1002\/jimd.12429"],"URL":"https:\/\/doi.org\/10.1002\/jimd.12429","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,9,7]]},"assertion":[{"value":"2021-05-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-08-25","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-09-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}