Tan Queenie K-G, McConkie-Rosell Allyn, Mahoney Rachel, Spillmann Rebecca C, Schoch Kelly, Chanprasert Sirisak, Acosta Maria T, Toro Camilo, Rosenfeld Jill A, Orengo James P, Scott Daryl A, Granadillo Jorge L, Sisco Kathleen, Wegner Daniel J, Tekin Mustafa, Bivona Stephanie, Peart LéShon, Rodan Lance, Bonner Devon, Wheeler Matthew T, Bernstein Jonathan A, Ruzhnikov Maura, Adams David R, Hisama Fuki M, Shashi Vandana
Division of Medical Genetics, Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.
Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, USA.
Am J Med Genet A. 2025 Apr;197(4):e63956. doi: 10.1002/ajmg.a.63956. Epub 2024 Dec 4.
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.
患有未确诊和/或罕见疾病的患者常常表现出畸形和神经学特征。关于远程医疗在评估这些疾病方面的有效性，目前缺乏相关信息。因此，我们比较了在未确诊个体中进行的无辅助虚拟体格检查（PE）和面对面体格检查，并评估了参与者对远程医疗的满意度。26名参加未确诊疾病网络研究的个体由同一名临床医生进行了一次家庭同步虚拟体格检查，随后又进行了一次面对面体格检查。参与者完成了关于远程医疗可用性和提供者同理心的调查。在体格检查中，远程医疗评估和面对面评估在总体外观和颅面部特征方面显示出近乎完美的一致性（κ = 0.81 - 1.00）。神经学检查的特定组成部分显示出高度一致性（言语、步态、协调性；κ > 0.61），而其他部分则为中度一致性（肌张力、力量；κ = 0.41 - 0.60），少数部分则为无至轻度一致性（皮肤；κ < 0.20）。在虚拟体格检查中，有些系统无法进行检查。重要的是，在虚拟体格检查中，只有2/26的个体遗漏了与诊断或管理相关的特征。参与者对远程医疗互动的质量以及提供者在虚拟界面中表现出的同理心感到满意。远程医疗在未确诊疾病的体格检查中是有效的，并且受影响个体可以接受。
