Delayed Diagnosis and Diagnostic Pathway of ALS Patients in Portugal: Where Can We Improve?

Abstract

Background: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease with unsatisfactory treatment options. Best management and recruitment into clinical trials requires early diagnosis. However, diagnosis is often delayed. Analysis of the diagnostic pathway and identification of the causes of diagnostic delay are imperative.Methods: We studied a cohort of 580 ALS patients followed up in our ALS clinic in Lisbon. Demographic, disease, and sociocultural factors were collected. Time from first symptom onset to diagnosis, the specialist's assessment, and investigations requested were analyzed. Predictors of diagnostic delay were evaluated by multivariate linear regression, adjusting for potential confounders.Results: The median diagnostic delay from first symptom onset was 10 months. Spinal-onset, slower disease progression, cognitive symptoms at onset, and lower income were associated with increased diagnostic delay. Most patients were first assessed by general practitioners. Patients who were first evaluated by a neurologist were more likely to be correctly diagnosed, decreasing time to diagnosis. Electromyography was decisive in establishing the diagnosis.Conclusions: Late referral from non-neurologists to a neurologist is a potentially modifiable factor contributing to significant diagnostic delay. Educational interventions targeted to non-neurologists physicians, in order to increase awareness of ALS and, consequently, promote early referral to a neurologist at a tertiary center, will be important in reducing diagnostic delay.

Symptoms timeline and outcomes in amyotrophic lateral sclerosis using artificial intelligence

“…In a recent study aimed at describing the epidemiology and clinical characteristics of ALS patients in a northern region of Spain using EHR data, the estimated time between symptoms onset and confirmed diagnosis was around 12 months; 40% of patients debuted with symptoms less than a year from diagnosis 25 . The patient journey seems to play a role in this delay, with early referral to a neurologist linked to shorter timing to diagnosis and improve accuracy 31 , 32 . However, in line with our results (with only around 40% of patients visiting the neurology department in the year prior to diagnosis), ALS patients are frequently referred to other hospital departments before the neurologist 32 – 34 .…”

Hastening the Diagnosis of Amyotrophic Lateral Sclerosis

“…11,[13][14][15][16] Patients usually see many physicians and receive multiple alternative diagnoses before their diagnosis of ALS is confirmed. 13,19 A study from Spain demonstrated that when patients were referred to an ALS center, the median diagnostic delay was much shorter compared with referrals made to a general, university-associated neurology center (Table 1). 17 An exploratory study performed at Beaumont Hospital, at which 80% of Irish patients with ALS are seen, illustrated the patient journey from symptom onset to the diagnosis of ALS.…”

Diagnostic track in amyotrophic lateral sclerosis: the Brazilian experience

“…12 Electromyography investigation has a critical role in the diagnosis of ALS, and is an essential step to reduce misdiagnosis and shorten diagnostic delay. 10 This point was not approached in this study, but further research is welcomed.…”

“…6 Consistently, bulbar-onset disease 7 8 and a faster observation by a neurologist has been associated with a shorter diagnostic delay. 1 9 10 Misdiagnosis is quite common in ALS, although quite variable in different centers. 6 Unquestionably, an initial wrong diagnosis delays ALS diagnosis, and increases the risk of inadequate medical interventions.…”

“…Moreover, it is reasonable to consider that the patient’s salary income can influence the diagnostic track. 10 For this reason, investigating the reality in each country is recommended, to endorse the appropriate interventions for each setting.…”