{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T04:48:58Z","timestamp":1785905338194,"version":"3.56.0"},"reference-count":42,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,12,4]],"date-time":"2024-12-04T00:00:00Z","timestamp":1733270400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","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":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Patients with undiagnosed and\/or rare disorders frequently manifest dysmorphic and neurological features. There is a lack of information on the effectiveness of telehealth in the evaluation of these disorders. We thus compared an unassisted virtual physical examination (PE) with an in\u2010person PE in undiagnosed individuals and also assessed participant telehealth satisfaction. Twenty\u2010six individuals enrolled in the Undiagnosed Diseases Network study underwent an in\u2010home synchronous virtual PE, and a subsequent in\u2010person PE, by the same clinician. The participants completed surveys on telehealth usability and provider empathy. On PE, general appearance and craniofacial features showed near perfect agreement (\n                    <jats:italic>\u03ba<\/jats:italic>\n                    \u2009=\u20090.81\u20131.00) between the telehealth and in\u2010person evaluations. Specific components of the neurological examination demonstrated substantial agreement (speech, gait, coordination;\n                    <jats:italic>\u03ba<\/jats:italic>\n                    \u2009&gt;\u20090.61), whereas others had moderate agreement (muscle tone, strength;\n                    <jats:italic>\u03ba<\/jats:italic>\n                    \u2009=\u20090.41\u20130.60), and a few had none to slight agreement (skin;\n                    <jats:italic>\u03ba<\/jats:italic>\n                    \u2009&lt;\u20090.20). Some systems could not be examined in the virtual PE. Importantly, features relevant to diagnosis or management were missed on the virtual PE in only 2\/26 individuals. The participants were satisfied with the quality of the telehealth interaction, as well as empathy demonstrated by providers in the virtual interface. Telehealth is effective for PEs in undiagnosed diseases and is acceptable to affected individuals.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63956","type":"journal-article","created":{"date-parts":[[2024,12,4]],"date-time":"2024-12-04T06:58:01Z","timestamp":1733295481000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-3353-5015","authenticated-orcid":false,"given":"Queenie K.\u2010G.","family":"Tan","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Pediatrics Duke University School of Medicine  Durham North Carolina 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