Diagnostic timelines and delays in diagnosing amyotrophic lateral sclerosis (ALS)

Abstract

The objective of this study was to characterize the diagnostic timelines and their predictors in people with amyotrophic lateral sclerosis (ALS). Patients were identified through ALS billing codes. Time from presenting symptom to first doctor visit, first doctor visit to suspected ALS diagnosis, suspected to confirmed ALS diagnosis, and presenting symptom to confirmed ALS diagnosis (total diagnostic time) were collected. Regression models were used to analyze the predictors of diagnostic delay. Three hundred and four ALS patients were included in the analysis. Median total diagnostic time was 11.5 months. Diagnostic timelines were longer in patients with age > 60 years (p < 0.001), sporadic ALS (p = 0.043), and limb onset (p = 0.010). The presence of fasciculations, slurred speech, and lower extremity weakness when symptoms were first noted were independent predictors of shorter time to ALS diagnosis (p = 0.04, p = 0.02, and p = 0.04, respectively). About half of the patients (52%) received an alternative diagnosis and each patient saw an average of three different physicians before ALS diagnosis was confirmed. In conclusion, diagnostic timelines in ALS are long, and patients see many physicians and receive multiple alternative diagnoses before the diagnosis of ALS is confirmed. Older age, sporadic disease, and limb onset can delay ALS diagnosis.

Key words::

• Diagnosis
• predictor
• delay
• timeline

Acknowledgements

This study was funded in part by support from the Harvard NeuroDiscovery Center.

Declaration of interest: Sabrina Paganoni is funded by an NIH Career Development Award. Eric Macklin serves on Data Monitoring Committees for Lantheus Medical Imaging and Shire Human Genetic Therapies and was an unpaid consultant to Knopp Biosciences. Merit Cudkowicz has provided consulting for Neuraltus, Cytokinetics and Teva. Nazem Atassi receives fellowship grants from the American Academy of Neurology (AAN), Muscular Dystrophy Association (MDA), and the Anne Young Fellowship, has research grants from the Harvard NeuroDiscovery Center and ALS Therapy Alliance (ATA), and provided consulting for Biogen IDEC.

The authors alone are responsible for the content and writing of the paper.