{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T03:38:47Z","timestamp":1788838727555,"version":"build-2803163510"},"reference-count":47,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2022,6,9]],"date-time":"2022-06-09T00:00:00Z","timestamp":1654732800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100001545","name":"Children's Tumor Foundation","doi-asserted-by":"publisher","award":["2015\u201001\u2010005"],"award-info":[{"award-number":["2015\u201001\u2010005"]}],"id":[{"id":"10.13039\/100001545","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["R25CA92203"],"award-info":[{"award-number":["R25CA92203"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Diagnosis of rare, genetic diseases is challenging, but conceptual frameworks of the diagnostic process can guide quality improvement initiatives. Using the National Academy of Medicine diagnostic framework, we assessed the extent of, and reasons for diagnostic delays and diagnostic errors in schwannomatosis, a neurogenetic syndrome characterized by nerve sheath tumors and chronic pain. We reviewed the medical records of 97 people with confirmed or probable schwannomatosis seen in two US tertiary care clinics. Time\u2010to\u2010event analysis revealed a median time from first symptom to diagnosis of 16.7\u2009years (95% CI, 7.5\u201326.0\u2009years) and median time from first medical consultation to diagnosis of 9.8\u2009years (95% CI, 3.5\u201316.2\u2009years). Factors associated with longer times to diagnosis included initial signs\/symptoms that were intermittent, non\u2010specific, or occurred at younger ages (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.05). Thirty\u2010six percent of patients were misdiagnosed; misdiagnoses were of underlying genetic condition (18.6%), pain etiology (16.5%), and nerve sheath tumor presence\/pathology (11.3%) (non\u2010mutually exclusive categories). One\u2010fifth (19.6%) of patients had a clear missed opportunity for genetics workup that could have led to an earlier schwannomatosis diagnosis. These results suggest that interventions in clinician education, genetic testing availability, expert review of pathology findings, and automatic triggers for genetics referrals may improve diagnosis of schwannomatosis.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.62860","type":"journal-article","created":{"date-parts":[[2022,6,9]],"date-time":"2022-06-09T08:08:48Z","timestamp":1654762128000},"page":"2672-2683","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Understanding barriers to diagnosis in a rare, genetic disease: Delays and errors in diagnosing schwannomatosis"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4542-5227","authenticated-orcid":false,"given":"Vanessa L.","family":"Merker","sequence":"first","affiliation":[{"name":"Department of Neurology and Cancer Center Massachusetts General Hospital Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bronwyn","family":"Slobogean","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery Johns Hopkins University Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6198-817X","authenticated-orcid":false,"given":"Justin T.","family":"Jordan","sequence":"additional","affiliation":[{"name":"Department of Neurology and Cancer Center Massachusetts General Hospital Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shannon","family":"Langmead","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery Johns Hopkins University Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Meterko","sequence":"additional","affiliation":[{"name":"Analytics and Performance Integration, Office of Quality and Patient Safety Veterans Health Administration Bedford Massachusetts USA"},{"name":"Department of Health Law, Policy and Management Boston University School of Public Health Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin P.","family":"Charns","sequence":"additional","affiliation":[{"name":"Department of Health Law, Policy and Management Boston University School of Public Health Boston Massachusetts USA"},{"name":"Center for Healthcare Organization and Implementation Research (CHOIR) VA Boston Healthcare System Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. Rani","family":"Elwy","sequence":"additional","affiliation":[{"name":"Center for Healthcare Organization and Implementation Research (CHOIR) VA Bedford Healthcare System Bedford Massachusetts USA"},{"name":"Department of Psychiatry and Human Behavior Brown University Warren Alpert Medical School Providence Rhode Island USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1049-0993","authenticated-orcid":false,"given":"Jaishri O.","family":"Blakeley","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery Johns Hopkins University Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott R.","family":"Plotkin","sequence":"additional","affiliation":[{"name":"Department of Neurology and Cancer Center Massachusetts General Hospital Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,6,9]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.2044-8309.1995.tb01047.x"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cts.12500"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000201190.89751.41"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMsa020847"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0730-1"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199102073240604"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1177\/1359105319828150"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmjqs-2013-001884"},{"key":"e_1_2_10_10_1","unstructured":"EURORDIS.The voice of 12 000 patients: Experiences and expectations of rare disease patients on diagnosis and Care in Europe2009. 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