{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,18]],"date-time":"2025-11-18T15:40:39Z","timestamp":1763480439319,"version":"3.40.5"},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,3,23]],"date-time":"2021-03-23T00:00:00Z","timestamp":1616457600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 DK107900"],"award-info":[{"award-number":["R01 DK107900"]}],"id":[{"id":"10.13039\/100000002","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":[[2021,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Classic galactosemia (CG) is a rare inborn error of metabolism that results from profound deficiency of galactose\u20101\u2010P uridylyltransferase (GALT). Despite early detection and rapid and lifelong dietary restriction of galactose, which is the current standard of care, most patients grow to experience a broad range of complications that can include motor difficulties. The goal of this study was to characterize hand fine motor control deficit among children and adults with classic galactosemia (CG). Specifically, we used Neuroglyphics software to collect digital Archimedes spiral drawings on a touch screen from 57 volunteers with CG (cases) and 80 controls. Hand fine motor control was scored as root mean square (RMS) of spirals drawn relative to an idealized template. Presence of tremor was defined as a peak in periodicity of changes in drawing speed or direction in the 4\u20108\u00a0Hz range. We observed a highly significant difference (<jats:italic>P<\/jats:italic>\u2009&lt;\u2009.001) in RMS scores between cases and controls, with almost 51% of cases showing at least 1 of 4 spirals scoring outside the 95th percentile for controls. The corresponding prevalence for controls was 10%. Similarly, more than 35% of cases, and almost 14% of controls, showed at least 1 of 4 spirals with a tremor amplitude above the 95th % cutoff for controls. Our results both confirm and extend what is known about hand fine motor control deficit among children and adults with CG and establish digital assessment as a useful approach to quantify this outcome.<\/jats:p>","DOI":"10.1002\/jimd.12376","type":"journal-article","created":{"date-parts":[[2021,3,15]],"date-time":"2021-03-15T12:21:36Z","timestamp":1615810896000},"page":"871-878","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Hand fine motor control in classic galactosemia"],"prefix":"10.1002","volume":"44","author":[{"given":"Jessica","family":"MacWilliams","sequence":"first","affiliation":[{"name":"Department of Human Genetics Emory University School of Medicine  Atlanta Georgia USA"},{"name":"Cleveland Clinic Lerner College of Medicine  Cleveland Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sneh","family":"Patel","sequence":"additional","affiliation":[{"name":"Emory College  Atlanta Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grace","family":"Carlock","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Emory University School of Medicine  Atlanta Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Vest","sequence":"additional","affiliation":[{"name":"Department of Speech and Hearing Sciences Elson S. Floyd College of Medicine, Washington State University  Spokane Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy L.","family":"Potter","sequence":"additional","affiliation":[{"name":"Department of Speech and Hearing Sciences Elson S. Floyd College of Medicine, Washington State University  Spokane Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7947-5807","authenticated-orcid":false,"given":"Judith L.","family":"Fridovich\u2010Keil","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Emory University School of Medicine  Atlanta Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,3,23]]},"reference":[{"key":"e_1_2_12_2_1","first-page":"79","article-title":"Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead","volume":"15","author":"Pyhtila BM","year":"2015","journal-title":"JIMD Rep"},{"volume-title":"GeneReviews\u00ae [Internet]","year":"2000","author":"Berry GT","key":"e_1_2_12_3_1"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12054"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25348"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1047-z"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01800204"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.23808"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.27121"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1388-2457(00)00384-9"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26671"},{"key":"e_1_2_12_12_1","first-page":"tre\u201002\u201065\u2010365\u20101","article-title":"Tremor: clinical phenomenology and assessment techniques","volume":"2","author":"Hess CW","year":"2012","journal-title":"Tremor Other Hyperkinet Mov (NY)"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/jir.12810"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-017-0067-x"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12376","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jimd.12376","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12376","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T15:49:50Z","timestamp":1692978590000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jimd.12376"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,23]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,7]]}},"alternative-id":["10.1002\/jimd.12376"],"URL":"https:\/\/doi.org\/10.1002\/jimd.12376","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"type":"print","value":"0141-8955"},{"type":"electronic","value":"1573-2665"}],"subject":[],"published":{"date-parts":[[2021,3,23]]},"assertion":[{"value":"2021-02-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-12","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}