Echo Model for Remote Delivery of Care for Phelan-Mcdermid Syndrome (PMS): The PMS Neuropsychiatric Consultation Group

Background: Patients with Phelan-McDermid syndrome (PMS) may develop complex neuropsychiatric symptoms, including features of bipolar disorder, psychosis and catatonia, regression in language and motor skills, and early dementia. Given the rarity of the diagnosis, and the range of presenting neuropsychiatric symptoms, patients may be cared for by a wide array of physician specialties, most of whom are unlikely to have any previous experience in the special needs of individuals with PMS.

Objectives: The PMS Neuropsychiatric Consultation Group (PMS-NCG) aims to provide multidisciplinary consultation to geographically-dispersed physicians, to support them in providing the best possible care to patients with PMS.

Methods: This initiative will utilize the established model for knowledge dissemination and capacity building called ECHO. The ECHO model consists of video-conferencing case consultation with teams of experts and local providers meeting regularly to discuss case management. The existing ECHO national infrastructure provides the necessary technology, training, and ongoing technical assistance for implementation of replication projects – all free of charge. The patient management support provided and CME credits are offered for attendance to incentivize participating providers for their time.

Results: The PMS-NCG was convened in January, 2018 and has met monthly to establish treatment algorithms for a wide array of neuropsychiatric symptoms in PMS. The PMS-NCG went live in September, 2018, and meets monthly. The PMS-NCG has since been soliciting consultation requests from the community of providers across the world through web-based advertising, conference announcements, webinars, and word of mouth. One formal consultation has occurred to date. Long terms goals include measurement of clinical outcomes.