Improving Recognition of Treatable Rare Neuromuscular Disorders in Primary Care: A Pilot Feasibility Study.

ABSTRACT: Innovative targeted treatments for neuromuscular disorders (NMDs) can dramatically improve the course of illness. Diagnostic delay, however, is a major impediment. Here, we present a pilot project aimed at assessing the feasibility of a screening program to identify children at high risk for NMDs within the first 30 months of life. The Promoting Early Diagnosis for Neuromuscular Disorders (PEDINE) project implemented a three-step sequential screening in an area of about 300,000 people with (1) an assessment of the motor development milestones to identify "red flags" for NMDs by primary care pediatricians (PCPs) as part of the routine Health Status Check visits; (2) for the children who screened positive, a community neuropsychiatric assessment, with further referral of suspected NMD cases

SUBMITTER: Ricci FS 

PROVIDER: S-EPMC9317909 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature