Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study

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-person PE in undiagnosed individuals and also assessed participant telehealth satisfaction. Twenty-six individuals enrolled in the Undiagnosed Diseases Network study underwent an in-home synchronous virtual PE, and a subsequent in-person 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 (κ = 0.81-1.00) between the telehealth and in-person evaluations. Specific components of the neurological examination demonstrated substantial agreement (speech, gait, coordination; κ > 0.61), whereas others had moderate agreement (muscle tone, strength; κ = 0.41-0.60), and a few had none to slight agreement (skin; κ < 0.20). 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.

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Publication Details

Journal
American Journal of Medical Genetics Part A
Published
2024-12-04
DOI
https://doi.org/10.1002/ajmg.a.63956
Primary Topic
Telemedicine and Telehealth Implementation
Type
article
Field-Weighted Citation Impact
0.00

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article

Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study

Maria T. Acosta, Rachel Mahoney, David R. Adams, Camilo Toro et al.
American Journal of Medical Genetics Part A
Telemedicine and Telehealth Implementation
article

Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study

Maria T. Acosta, Rachel Mahoney, David R. Adams, Camilo Toro, LéShon Peart, Daniel Wegner, Stephanie Bivona, James P. Orengo, Fuki M. Hisama, Kelly Schoch, Devon Bonner, Matthew Thomas Wheeler, Kathleen Sisco, Sirisak Chanprasert, Jorge L. Granadillo, Mustafa Tekin, Allyn McConkie‐Rosell, Lance H. Rodan, Maura Ruzhnikov, Vandana Shashi, Daryl A. Scott, Jonathan A. Bernstein, Rebecca C. Spillmann, Jill A. Rosenfeld, Queenie K.‐G. Tan
article en

Abstract

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-person PE in undiagnosed individuals and also assessed participant telehealth satisfaction. Twenty-six individuals enrolled in the Undiagnosed Diseases Network study underwent an in-home synchronous virtual PE, and a subsequent in-person 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 (κ = 0.81-1.00) between the telehealth and in-person evaluations. Specific components of the neurological examination demonstrated substantial agreement (speech, gait, coordination; κ > 0.61), whereas others had moderate agreement (muscle tone, strength; κ = 0.41-0.60), and a few had none to slight agreement (skin; κ < 0.20). 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.

American Journal of Medical Genetics Part AVol. 197(4)
Boston Children's Hospital (US), Lucile Packard Children's Hospital (US), Harvard University (US), University of Miami (US), Baylor College of Medicine (US), Washington University in St. Louis (US), University of Washington Medical Center (US), National Human Genome Research Institute (US), Office of the Director (US), Duke Medical Center (US), Dr. John T. Macdonald Foundation (US), Stanford Medicine (US), Office of the Director (US), Boston Children's Museum (US), Baylor Genetics (US), Stanford University (US)
Brigham and Women's Hospital, University of Miami, Washington University in St. Louis, University of Washington, National Institutes of Health, National Human Genome Research Institute, National Institute of Neurological Disorders and Stroke
Openalex Percentile: Top 66%
Telemedicine and Telehealth Implementation
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