Language
English
Publication Date
4-1-2025
Journal
American Journal of Medical Genetics Part A
DOI
10.1002/ajmg.a.63956
PMID
39629753
PMCID
PMC12057405
PubMedCentral® Posted Date
5-7-2025
PubMedCentral® Full Text Version
Author MSS
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.
Keywords
Humans, Telemedicine, Rare Diseases, Female, Male, Adult, Undiagnosed Diseases, Adolescent, Child, Middle Aged, Young Adult, Physical Examination, Child, Preschool, telegenetics, telehealth, undiagnosed diseases, virtual physical examination
Published Open-Access
yes
Recommended Citation
Tan, Queenie K-G; McConkie-Rosell, Allyn; Mahoney, Rachel; et al., "Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study" (2025). Faculty and Staff Publications. 4333.
https://digitalcommons.library.tmc.edu/baylor_docs/4333