Guidance algorithm for early diagnosis of SMA 5q 1-3 in Colombia: Modified Delphi Panel
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Abstract
Introduction: There is a conceptual gap regarding early genetic confirmation for Spinal Muscular Atrophy (SMA). An algorithm is proposed, through a modified Delphi panel, to pragmatically guide healthcare personnel in the early identification of signs and symptoms of SMA types 1 to 3, aiming to increase diagnostic, clinical, and molecular performance.
Materials and Methods: Using a modified Delphi approach, a group of three experts with extensive clinical, research, and teaching experience developed 13 cases based on their clinical expertise and a descriptive literature review. Subsequently, an extended group of nine experts participated in 2 rating rounds for each case using the Likert scale.
Results: Eight experts completed the first round, reporting a median of 22.5 years of specialist clinical practice (range 5 to 35) and a median of 50 treated SMA patients (range 15 to 150). In the first round, consensus was reached on 19 statements for SMA-1, 19 statements for SMA-2, and 15 statements for SMA-3. In the second round, consensus was achieved in 72.7% of 11 statements for SMA-1, 85.7% of eight statements for SMA-2, and 100% of eight statements for SMA-3.
Conclusions: The Delphi methodology allowed for the development of an algorithmic approach in the form of a flowchart for the early identification of signs, symptoms, and diagnosis of each subtype of 5q SMA. A comprehensive and pragmatic framework is proposed to serve as guidance for general and specialist physicians.
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