Minimizing the Diagnostic Delay in Amyotrophic Lateral Sclerosis: The Role of Nonneurologist Practitioners

Abstract

Introduction. Amyotrophic lateral sclerosis (ALS), usually fatal in a few years, is a neurodegenerative disorder where the diagnostic delay, although variable according to the studies, remains too long. The main objective of this study was to determine the average time to diagnose ALS and the role of each physician, general practitioner (GP), or specialist (neurologist or not) involved in the management of these patients. The secondary objective was to propose some simple schemes to quickly identify an ALS suspicion with the aim to reduce this delay. Patients and Methods. This retrospective study evaluated the diagnostic delay (and other intermediate delays) of 90 ALS patients registered in the ALS Center of Bordeaux (France) in 2013. The main clinical signs encountered (and their order of appearance) were studied. Results. The average diagnostic delay was 17 months, with a median diagnostic delay of 12 months. The average diagnostic delay was 2.7 months between the first symptoms and the first complaint to GP, followed by an additional 6.5 month delay before the patient’s first visit to a neurologist. This period could be shortened, especially if GP performed additional tests quickly (p=0.01), as the time spent consulting various specialists often extends this crucial step. Overall, diagnostic delay accounted for 40% of the total duration of the disease progression. Conclusion. In relation to total survival time, the diagnostic delay of ALS appears to be proportionately very long, sometimes longer than that observed in previous studies (because it also included the total delay to diagnostic or treatment initiation). The rapid execution of useful additional tests by the first medical doctor, often GP (with the help of a neurologist), considerably reduces the diagnostic delay. The central role of GP seems to be crucial in the management of patients with ALS. The main objective is, of course, to initiate appropriate treatment and care as soon as possible. Finally, based on our results, we also provide a short practical diagram to help nonneurologist practitioners to quickly discuss the diagnosis of ALS in case of some specific symptoms (“red flags”).

Time to Diagnosis and Factors Affecting Diagnostic Delay in Amyotrophic Lateral Sclerosis

“…This has been confirmed in other research as well (11)(12)(13)(14), including more recent studies in 2020 that found a median delay of about 12 months (15-17) and a mean delay of 17 months (15). In the Richards et al article, the longest delay was 27 months, reported in a study reviewing the United States Centers for Medicare & Medicaid Services database (18) and shortest reported median interval was from a study of a national database used by tertiary ALS clinics in France, reporting a delay of 9.1 months (19).…”

“…Clinical presentation plays a significant role in time to diagnosis, particularly with regards to bulbar versus spinal-onset presentation (8,13,15,16,18,19,21,22,(25)(26)(27)(28)(29)(30)(31), with the literature suggesting patients with bulbar-onset ALS experience a delay to diagnosis three to seven months shorter than those with spinal-onset ALS (21,(26)(27)(28). The study reporting the longest delay of 2.25 years, as mentioned in the review paper by Richards et al (10), showed a substantial difference between delays in the bulbar-onset group (1.25 years) compared to the spine-onset group (2.5 years) (18).…”

“…While the first provider assessment is most frequently with the patient' s PCP (13,15,21,23,37), subsequent referrals to other specialists results in additional delays, with some research showing that neurologists make up 60% of initial specialist referrals (23,38). Nzwalo et al reported that 56% of cases will undergo subsequent neurology referral at some point during the course of the disease (37).…”

“…Authors theorized, at least for the former, this could be due to patients early in the disease course needing serial EMGs or clinical examinations before the disease was advanced enough to be more definitively diagnosed. They also note that bulbar-onset ALS, which showed a shorter diagnostic delay, was more likely to be referred to ENT rather than a neurologist, potentially skewing the specialist referral data (15).…”

“…In a study by Palese et al, EDX was the most common first investigatory procedure in the pathway to the ALS diagnosis, followed by brain and spinal cord imaging (38). Research suggests that ultimately 75-100% of ALS (15,21,30) patients will undergo neurophysiologic/EDX testing at some point during their diagnostic path and 61-100% of patients will undergo brain MRI (21,30).…”