{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T12:31:28Z","timestamp":1789907488876,"version":"4.0.1"},"reference-count":11,"publisher":"American Academy of Pediatrics (AAP)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1998,7,1]]},"abstract":"<jats:p>Objectives.\u2003Ataxia-telangiectasia (AT) is a rare, autosomal recessive neurodegenerative disorder in which the diagnosis is obvious when ataxia and telangiectasia are both present. However, the diagnosis can be made upon the onset of ataxia and before the appearance of telangiectasia if confirmed by laboratory tests. Early diagnosis is important for genetic counseling, appropriate care, and avoidance of unnecessary tests. The purpose of this study is to identify factors responsible for delays in the diagnosis of AT.<\/jats:p>\n               <jats:p>Design.\u2003The records of all patients seen at the Ataxia-Telangiectasia Clinical Center from July 1, 1995 to April 1, 1997 were reviewed to determine age of onset of gait abnormality, recognition of telangiectasia, and diagnosis.<\/jats:p>\n               <jats:p>Results.\u2003In 48 patients with AT, who were the index cases in their respective families, the median age of diagnosis (78 months) occurred after the onset of gait abnormalities (15 months) and closely corresponded to the development of telangiectasia (72 months). In the majority of cases (34\/48), telangiectasia appeared before the diagnosis was established. The most common misdiagnosis was cerebral palsy (29\/48 cases). Twenty-one children (4 with AT) were born after the start of symptoms in the index case, but before the establishment of a diagnosis.<\/jats:p>\n               <jats:p>Conclusions.\u2003The term AT, although a concise and memorable label for the disorder, is also a barrier to early diagnosis. We recommend the use of routine serum \u03b1-fetoprotein testing for all children with persistent ataxia.<\/jats:p>","DOI":"10.1542\/peds.102.1.98","type":"journal-article","created":{"date-parts":[[2004,8,13]],"date-time":"2004-08-13T23:44:32Z","timestamp":1092440672000},"page":"98-100","source":"Crossref","is-referenced-by-count":115,"title":["Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia"],"prefix":"10.1542","volume":"102","author":[{"given":"Michael D.","family":"Cabana","sequence":"first","affiliation":[{"name":"From the Ataxia-Telangiectasia Clinical Center, the Department of Pediatrics, the"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas O.","family":"Crawford","sequence":"additional","affiliation":[{"name":"From the Ataxia-Telangiectasia Clinical Center, the Department of Pediatrics, the"},{"name":"Department of Neurology, the"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerry A.","family":"Winkelstein","sequence":"additional","affiliation":[{"name":"From the Ataxia-Telangiectasia Clinical Center, the Department of Pediatrics, the"},{"name":"Division of Allergy and Immunology, and the"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James R.","family":"Christensen","sequence":"additional","affiliation":[{"name":"From the Ataxia-Telangiectasia Clinical Center, the Department of Pediatrics, the"},{"name":"Kennedy Krieger Institute, Baltimore, Maryland."},{"name":"Department of Physical Medicine and Rehabilitation at Johns Hopkins University School of Medicine, and the"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Howard M.","family":"Lederman","sequence":"additional","affiliation":[{"name":"From the Ataxia-Telangiectasia Clinical Center, the Department of Pediatrics, the"},{"name":"Division of Allergy and Immunology, and the"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[1998,7,1]]},"reference":[{"key":"2021121010184582300_B1","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1097\/00005792-199103000-00003","article-title":"Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis.","volume":"70","author":"Gatti","year":"1991","journal-title":"Medicine"},{"key":"2021121010184582300_B2"},{"key":"2021121010184582300_B3","first-page":"169","article-title":"Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals.","volume":"298","author":"Woods","year":"1992","journal-title":"Q J Med"},{"key":"2021121010184582300_B4","first-page":"573","article-title":"The incidence and gene frequency of ataxia-telangiectasia in the United States.","volume":"39","author":"Swift","year":"1986","journal-title":"Am J Hum 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sensitivity.","volume":"258","author":"Taylor","year":"1975","journal-title":"Nature."},{"key":"2021121010184582300_B10","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1007\/BF00282177","article-title":"Breakage of the T cell receptor \u03b1 chain locus in non malignant clones from patients with ataxia telangiectasia.","volume":"79","author":"Heppell","year":"1988","journal-title":"Hum Genet."},{"key":"2021121010184582300_B11","doi-asserted-by":"crossref","first-page":"1831","DOI":"10.1056\/NEJM199112263252602","article-title":"Incidence of cancer in 161 families affected by ataxia-telangiectasia.","volume":"325","author":"Swift","year":"1991","journal-title":"N Engl J Med."}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/102\/1\/98\/837813\/98.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/102\/1\/98\/837813\/98.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,10]],"date-time":"2021-12-10T22:45:53Z","timestamp":1639176353000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/102\/1\/98\/65475\/Consequences-of-the-Delayed-Diagnosis-of-Ataxia"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,7,1]]},"references-count":11,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1998,7,1]]},"published-print":{"date-parts":[[1998,7,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.102.1.98","relation":{},"ISSN":["1098-4275","0031-4005"],"issn-type":[{"value":"1098-4275","type":"electronic"},{"value":"0031-4005","type":"print"}],"subject":[],"published":{"date-parts":[[1998,7,1]]}}}