Abstract
Objective: To analyze those factors contributing to the diagnostic delay in ALS.Methods: Consecutive ALS patients were categorized as those studied in departmental hospitals and those studied in a referral ALS center. Demographic and clinical variables, together with data of the diagnostic pathway were collected. Multivariable models were used to assess their effect in the time between symptoms onset and the first neurologist visit (time symptoms-neurologist), in the time between the first neurologist visit and the diagnosis (time neurologist-diagnosis) and in the diagnostic delay.Results: 166 ALS patients with a median diagnostic delay of 11.53 months (IQR: 6.68, 15.23) were included. The median diagnostic delay was 8.57 months (5.16, 11.61) in the referral center vs. 12.08 months (6.87, 16.8) in departmental centers. Bulbar onset, fast progression rate, upper motor neuron predominant phenotype and an early referral to the neurologist were associated with a shorter time between symptoms–neurologist. Being studied in a referral center was associated with a shorter time between neurologist–diagnosis. Comorbidities, familial ALS, bulbar onset, early referral to the neurologist and being studied in a referral center were associated with a shorter diagnostic delay. For patients studied in departmental hospitals, fast progression rate was also strongly associated with a shorter time between neurologist–diagnosis and diagnostic delay.Conclusion: Unmodifiable factors (comorbidities, familial ALS, bulbar onset, and progression rate) as well as modifiable factors (early referral to the neurologist and the evaluation in an ALS referral center) have an independent effect in the diagnostic delay. The universalization of ALS Units is probably the most efficient measure to reduce the diagnostic delay.
Highlights
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by a rapidly progressing upper and lower motor neuron (UMN and LMN) impairment that usually leads to death about 3 years after the onset of symptoms
For the purpose of this study, we considered three main phenotypes (17): LMN predominant ALS (LMN-ALS), which refers to patients having no or minimal/equivocal UMN signs at the time of the diagnosis; UMN predominant ALS (UMN-ALS), which refers to patients not meeting Awaji criteria of LMN impairment at diagnosis; and classical ALS, which include all other patients
Fiftyone patients were excluded based on the abovementioned criteria (Figure 1) and 166 ALS patients were included in the study
Summary
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by a rapidly progressing upper and lower motor neuron (UMN and LMN) impairment that usually leads to death about 3 years after the onset of symptoms Despite this fast progression, the diagnostic delay of ALS is ∼12 months (1–14), which represents about one third of the whole life expectancy of these patients. Notwithstanding the technical advances of recent years, the diagnostic delay has not been significantly reduced in the last 20 years and it is similar among different countries and health systems (1–14) This suggests that the delay may rely on disease related factors that are difficult to modify. A late diagnosis hampers the access to social benefits, which are already slowed down several months or even years in Spain It delays the inclusion of ALS patients in clinical trials, hindering the search for new, effective treatments. When these expected treatments appear, the health system should be ready, having reduced the diagnostic delay
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