# Assessing Delays in Time to Diagnosis of Duchenne Muscular Dystrophy: A Survey of Current Primary Care Practices

## TL;DR

This study explores how primary care doctors currently identify Duchenne muscular dystrophy, finding that many lack standardized screening practices, leading to delays in diagnosis.

## Contribution

The paper introduces a survey-based analysis of primary care practices in DMD diagnosis, revealing gaps in standardized screening and clinician roles.

## Key findings

- Most clinicians know to check creatinine kinase levels, but few use it as a primary diagnostic step.
- Approximately one-third of clinicians do not use formal screening tools for developmental delays, often using a 'wait and see' approach.
- Clinicians perceive four main roles in DMD management: early detection, care coordination, referrals, and patient support.

## Abstract

Background: Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disorder in which delayed recognition remains a significant challenge in primary care. Early identification remains a significant challenge in primary care. Early identification is essential to enable timely referral, diagnostic testing, and initiation of supportive and disease-modifying therapies. However, variability in developmental screening practices and uncertainty regarding appropriate diagnostic evaluation may contribute to ongoing delays.

Aim: To investigate current practices in diagnosing and managing DMD, focusing on screening tools for developmental milestones and the referral process for suspected cases, and to understand the challenges and opportunities in early identification, diagnosis, and long-term care for individuals with DMD.

Methods: A 13-item needs survey was developed by a multidisciplinary team, including pediatricians and a pediatric neuromuscular specialist, to ensure content relevance and clarity. The face and content validity of the survey were established through expert review before distribution. This survey was then distributed nationally to 325 healthcare professionals using a mixed approach of open and closed-ended questions to evaluate screening tools used for developmental milestones, referral processes for suspected DMD diagnosis, and their involvement in ongoing DMD management.

Results: A total of 90% of clinicians were aware of checking creatinine kinase levels for DMD diagnosis; however, only 17% used it as a primary action for suspected motor delays. Approximately one-third of respondents did not use a primary screening tool for developmental delays, often opting for a "wait and see" approach instead. Thematic analysis of open-ended responses highlighted four main roles perceived by clinicians in DMD management: early detection, care coordination, referrals, and supporting patients and caregivers.

Conclusions: Clinicians play a crucial role in coordinating care for DMD patients, but there are gaps in standardized screening and diagnosis practices. Improved education for primary care clinicians is necessary to enhance the recognition and management of neuromuscular disorders, facilitating early access to therapies, and improving patient outcomes.