{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,2]],"date-time":"2026-11-02T23:12:02Z","timestamp":1793661122304,"version":"4.5.1"},"reference-count":12,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Arch Dis Child"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:sec><jats:title>Background and aims<\/jats:title><jats:p>Ataxia telangiectasia (A-T) is a rare progressive, multisystem genetic disease. Families of children with ultra-rare diseases often experience significant diagnostic delays. We reviewed the diagnostic process for A-T in order to identify causes of delay in an attempt to facilitate earlier identification of A-T in the future.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A retrospective case note review of 79 children at the National Paediatric A-T clinic seen since May 2009. Data were collected on the nature and age of initial symptoms, the age at first presentation, measurement of alpha feto-protein (AFP) and age of genetic diagnostic confirmation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>At presentation, 71 children (90%) had ataxia. The median presentation delay (from first parental concern to presentation) was 8\u2005months (range 0\u2013118\u2005months), and the median diagnostic delay (genetic confirmation of diagnosis) was 12\u2005months (range 1\u2013109\u2005months).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>There are significant delays in presentation and diagnostic confirmation of A-T. A greater awareness of A-T and early measurement of AFP may help to improve this.<\/jats:p><\/jats:sec>","DOI":"10.1136\/archdischild-2016-310477","type":"journal-article","created":{"date-parts":[[2016,11,1]],"date-time":"2016-11-01T01:39:48Z","timestamp":1477964388000},"page":"328-330","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":25,"title":["Ataxia telangiectasia: presentation and diagnostic delay"],"prefix":"10.1136","volume":"102","author":[{"given":"Rebecca","family":"Devaney","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Pasalodos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohnish","family":"Suri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andy","family":"Bush","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0083-7460","authenticated-orcid":false,"given":"Jayesh M","family":"Bhatt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2016,10,31]]},"reference":[{"key":"key-10.1136\/archdischild-2016-310477-1","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1007\/BF00210809","article-title":"Unusual features in the inheritance of ataxia telangiectasia","volume":"84","author":"Woods","year":"1990","journal-title":"Hum Genet"},{"key":"key-10.1136\/archdischild-2016-310477-2","first-page":"293","article-title":"Tissue of origin of elevated alpha-fetoprotein in ataxia-telangiectasia","volume":"4","author":"Ishiguro","year":"1986","journal-title":"Dis Markers"},{"key":"key-10.1136\/archdischild-2016-310477-3","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/j.ejpn.2013.09.003","article-title":"Alpha-fetoprotein, a fascinating protein and biomarker in neurology","volume":"18","author":"Schieving","year":"2014","journal-title":"Eur J Paediatr Neurol"},{"key":"key-10.1136\/archdischild-2016-310477-4","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1111\/cge.12453","article-title":"Ataxia telangiectasia: more variation at clinical and cellular levels: ataxia telangiectasia","volume":"87","author":"Taylor","year":"2015","journal-title":"Clin Genet"},{"key":"key-10.1136\/archdischild-2016-310477-5","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1136\/adc.2010.193664","article-title":"The importance of rare diseases: from the gene to society","volume":"96","author":"Dodge","year":"2011","journal-title":"Arch Dis Child"},{"key":"key-10.1136\/archdischild-2016-310477-6","unstructured":"Donaldson L. ANNUAL REPORT of the Chief Medical Officer. HMSO, 2009. http:\/\/www.sthc.co.uk\/Documents\/CMO_Report_2009.pdf"},{"key":"key-10.1136\/archdischild-2016-310477-7","doi-asserted-by":"crossref","first-page":"1071","DOI":"10.1136\/adc.2007.134940","article-title":"Rare childhood diseases: how should we respond?","volume":"93","author":"Zurynski","year":"2008","journal-title":"Arch Dis Child"},{"key":"key-10.1136\/archdischild-2016-310477-8","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1183\/16000617.0066-2015","article-title":"ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia","volume":"24","author":"Bhatt","year":"2015","journal-title":"Eur Respir Rev"},{"key":"key-10.1136\/archdischild-2016-310477-9","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/1750-1172-9-5","article-title":"Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial","volume":"9","author":"Chessa","year":"2014","journal-title":"Orphanet J Rare Dis"},{"key":"key-10.1136\/archdischild-2016-310477-10","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1183\/16000617.0017-2016","article-title":"Why we should care about ultra-rare disease","volume":"25","author":"Harari","year":"2016","journal-title":"Eur Respir Rev"},{"key":"key-10.1136\/archdischild-2016-310477-11","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1177\/0883073812448680","article-title":"Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients","volume":"27","author":"Al-Maawali","year":"2012","journal-title":"J Child Neurol"},{"key":"key-10.1136\/archdischild-2016-310477-12","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1016\/j.jaci.2011.03.052","article-title":"Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype","volume":"128","author":"Micol","year":"2011","journal-title":"J Allergy Clin Immunol"}],"container-title":["Archives of Disease in Childhood"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/archdischild-2016-310477","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,26]],"date-time":"2020-09-26T10:59:43Z","timestamp":1601117983000},"score":1,"resource":{"primary":{"URL":"https:\/\/adc.bmj.com\/lookup\/doi\/10.1136\/archdischild-2016-310477"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,10,31]]},"references-count":12,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2017,3,20]]},"published-print":{"date-parts":[[2017,4]]}},"alternative-id":["10.1136\/archdischild-2016-310477"],"URL":"https:\/\/doi.org\/10.1136\/archdischild-2016-310477","relation":{},"ISSN":["0003-9888","1468-2044"],"issn-type":[{"value":"0003-9888","type":"print"},{"value":"1468-2044","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,10,31]]}}}