1. 205P Early diagnosis for Duchenne muscular dystrophy (DMD) to shape and influence the model of care to support children and families following an early diagnosis of DMD.
- Author
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Lee, S., Bradley, C., Evans, K., Garrow, M., Lorentzos, M., Servais, L., and Parsons, J.
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DUCHENNE muscular dystrophy , *EARLY diagnosis , *DELPHI method , *NEWBORN screening , *MENTAL health counseling - Abstract
Early diagnosis of DMD is complex and it is imperative that clear clinical pathways and standards of care are agreed. The Lancet guidelines for the care of DMD are regarded as tenets of best practice, however there is minimal guidance for the most effective model of care following an early pre-symptomatic diagnosis. Given recent progression in clinical trials and the varying approaches to clinical practice internationally, TREAT-NMD have identified a need to convene stakeholders in an up-to-date discussion on presymptomatic diagnosis across the European, American and Asia-Pacific regions. This culminated in the Early Diagnosis for DMD project. Between July and October 2023, 42 stakeholders participated in 5 online and 1 hybrid TREAT-NMD workshops to gain perspective into the needs and priorities for early diagnosis of DMD. The fundamental question asked was: 'how does an early diagnosis of DMD do more good than harm? This culminated in a first draft of a flexible framework, in keeping with the disease stage-based sections of the Lancet guidelines, for the best model of care outlining important interventions over 3 timepoints: time of diagnosis, the infancy stage and in the very early ambulatory stage of DMD. The first draft of the framework was published in a workshop report compiled by Dr Michelle Lorentzos. The workshop report evidences important international discussion related to the design of a model of care for early DMD. Key themes discussed over the 5 meetings are listed in the report: newborn screening, power of language, partnerships, psychological support and counselling, medical management and development. More focused recommendations for the framework now require a formal consensus process and a Delphi study with multidisciplinary input from a smaller group of selected stakeholders. Such formalization processes are undergoing planning and implementation and will be worked over the course of 2024/2025. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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