{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,2]],"date-time":"2026-01-02T07:07:59Z","timestamp":1767337679674,"version":"3.40.5"},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,8,30]],"date-time":"2019-08-30T00:00:00Z","timestamp":1567123200000},"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":[[2020,2]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>To collect preliminary functional data on ataxia telangiectasia and create a disease specific scale: the Ataxia Telangiectasia Functional Scale (<jats:styled-content style=\"fixed-case\">ATFS<\/jats:styled-content>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Retrospective information on patients with ataxia telangiectasia referred to the Assistive Technology Unit was included. Functional mobility scales (the Gross Motor Function Classification System [<jats:styled-content style=\"fixed-case\">GMFCS<\/jats:styled-content>] and the Functional Mobility Scale [<jats:styled-content style=\"fixed-case\">FMS<\/jats:styled-content>]\u20105, <jats:styled-content style=\"fixed-case\">FMS<\/jats:styled-content>\u201050, <jats:styled-content style=\"fixed-case\">FMS<\/jats:styled-content>\u2010500) and activities of daily living [<jats:styled-content style=\"fixed-case\">ADL<\/jats:styled-content>] parameters were recorded. We created a 51\u2010point <jats:styled-content style=\"fixed-case\">ATFS<\/jats:styled-content>, that consisted of three ambulation items adapted for ataxia telangiectasia in the frame of <jats:styled-content style=\"fixed-case\">FMS<\/jats:styled-content> (home, school, outdoors), five <jats:styled-content style=\"fixed-case\">ADL<\/jats:styled-content> items, and one schooling item.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twenty\u2010seven participants (17 males, 10 females; mean age 10y 8mo [<jats:styled-content style=\"fixed-case\">SD<\/jats:styled-content> 5y 1mo], range 1y 9mo\u201325y 6mo), were enrolled; 168 measurements were recorded. Patients walked at a mean age of 1\u00a0year 4\u00a0months (<jats:styled-content style=\"fixed-case\">SD<\/jats:styled-content> 5y 4mo) and lost ambulatory capacity at 8\u00a0years 8\u00a0months (<jats:styled-content style=\"fixed-case\">SD<\/jats:styled-content> 2y 1mo). <jats:styled-content style=\"fixed-case\">GMFCS<\/jats:styled-content> level and <jats:styled-content style=\"fixed-case\">FMS<\/jats:styled-content>\u20105, <jats:styled-content style=\"fixed-case\">FMS<\/jats:styled-content>\u201050, <jats:styled-content style=\"fixed-case\">FMS<\/jats:styled-content>\u2010500 assessments correlated with age (Spearman's correlations <jats:italic>r<\/jats:italic>=0.555, \u22120.617, \u22120.639, \u22120.662 respectively, <jats:italic>p<\/jats:italic>&lt;0.01 for all), but plateaued after 12\u00a0years of age. <jats:styled-content style=\"fixed-case\">ATFS<\/jats:styled-content> mean score was 37.46 (<jats:styled-content style=\"fixed-case\">SD<\/jats:styled-content> 7.88) and increased with age (Spearman's correlation <jats:italic>r<\/jats:italic>=0.585, <jats:italic>p<\/jats:italic>&lt;0.01). The scale showed three\u00a0stages of disease progression.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>In this pilot study we show longitudinal functional data of ambulation and <jats:styled-content style=\"fixed-case\">ADL<\/jats:styled-content> skills in ataxia telangiectasia, and created a framework for a functional scale. This functional scale closely approximated disease course, but further validation is required.<\/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>The Gross Motor Function Classification System and the Functional Mobility Scale are ill\u2010suited for ataxia telangiectasia assessments.<\/jats:p><\/jats:list-item>\n\n<jats:list-item><jats:p>Three functional mobility scales (home, school, outdoors) suited to ataxia telangiectasia\u00a0were created.<\/jats:p><\/jats:list-item>\n\n<jats:list-item><jats:p>The Ataxia Telangiectasia Functional Scale (ATFS) combines mobility and items of activities of daily living.<\/jats:p><\/jats:list-item>\n\n<jats:list-item><jats:p>The ATFS closely approximates the three\u2010stage progression of the disorder.<\/jats:p><\/jats:list-item>\n<\/jats:list>\n<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.14334","type":"journal-article","created":{"date-parts":[[2019,8,30]],"date-time":"2019-08-30T09:00:45Z","timestamp":1567155645000},"page":"207-213","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Functional parameter measurements in children with ataxia telangiectasia"],"prefix":"10.1111","volume":"62","author":[{"given":"Efrat","family":"Shenhod","sequence":"first","affiliation":[{"name":"The Sackler School of Medicine Tel Aviv University Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruria","family":"Benzeev","sequence":"additional","affiliation":[{"name":"The Sackler School of Medicine Tel Aviv University Tel Aviv Israel"},{"name":"The Pediatric Neurology Unit Sheba Medical Center Sackler Faculty of Medicine Safra Children's Hospital Tel Aviv University Tel Aviv 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