Diagnosis pathway for patients with amyotrophic lateral sclerosis: retrospective analysis of the US Medicare longitudinal claims database

Abstract

BackgroundInitial symptoms of amyotrophic lateral sclerosis (ALS) are often subtle and can delay diagnosis. This exploratory analysis was conducted to better characterize the pre-diagnosis pathway undertaken by patients with ALS in the US Centers for Medicare & Medicaid Services Medicare longitudinal claims database.MethodsQuarterly Medicare claims data were analyzed to determine the pre-diagnosis pathway for an ALS patient cohort that included patients aged ≥ 65 years with ≥ 2 ALS claims (International Classification of Diseases, Ninth Revision, Clinical Modification code 335.20) between the first quarter of 2007 and the fourth quarter of 2009, and were enrolled in Medicare ≥ 2 years before the first ALS claim (diagnosis). A cohort of Medicare patients without claims for motor neuron diseases were identified for comparison. A subset of these patients with ≥ 3 years of claims data was included in a time to diagnosis analysis. Data extraction included the most common initial symptoms of ALS, the time from first ALS symptom to diagnosis, and the diagnostic procedures performed before the diagnosis of ALS.ResultsA total of 399 patients met the inclusion criteria and were included in the ALS cohort; 272 patients were included in the time to diagnosis cohort. Before the quarter of diagnosis, symptoms that were more frequently seen in the ALS cohort than the general Medicare cohort included muscle weakness, lack of coordination and speech/swallowing difficulties. Limb-onset ALS (74%) was more common than bulbar-onset ALS (17%). Median time to diagnosis for limb- and bulbar-onset patients was 2.5 years and 1.25 years, respectively. The most common tests conducted before the quarter of diagnosis included sensory and motor nerve conduction tests, imaging studies, and electromyography; however, a substantial number of patients did not receive any nerve conduction testing. Motor nerve conduction testing in patients with bulbar-onset ALS had the largest impact on time to diagnosis.ConclusionsThis analysis describes a diagnostic delay for patients with ALS in the US Medicare population, similar to previous reports. The development of tools and ongoing education that can help to identify patients with ALS earlier in their disease course is needed.

Comparative analysis of C9orf72 and sporadic disease in an ALS clinic population

“…The distribution of site of onset of disease in our cohort of C9Pos patients closely mirrored that of C9Neg patients and was typical of other ALS cohorts. 24 The racial makeup of both groups was largely Caucasian, 25 which reflects our patient population. The equal distribution of men and women in the C9Pos group may reflect the autosomal dominant inheritance of the C9orf72 expansion mutation.…”

Apparent diffusion coefficients distinguish amyotrophic lateral sclerosis from cervical spondylotic myelopathy

“…Note that even though patients with clinically possible ALS initially showed only mild symptoms mainly with lower motor neuron signs, they showed significantly higher ADCs than patients with CSM including those with CSA. On the other hands, it has been reported that the median time to diagnose ALS for patients with limb onset was longer than that for patients with bulbar onset [3], although 13/19 ALS patients with limb onset who did not develop bulbar symptoms initially were also observed to have elevated ADCs in the corticospinal tracts in our study. We believe that evaluating the ADCs in the intracranial corticospinal tracts is useful for distinguishing ALS from CSM in the early stage of the disease.…”

“…Fifty percent of patients with amyotrophic lateral sclerosis (ALS) have cervical spondylotic myelopathy (CSM) as a complication [1,2]. Although, bulbar symptoms are meaningful for diagnosing ALS, a large retrospective cohort of ALS showed that patients with ALS developing bulbar symptoms at onset were only 25% [3]. Because most patients with ALS do not develop bulbar signs and symptoms at onset, distinguishing them from patients with CSM is sometimes difficult, especially from those with cervical spondylotic amyotrophy (CSA) who do not show sensory symptoms [4].…”

Patolojik yürüme

“…Bu noktada kas gücünü değerlendiren klinik testler hastanın yürüme potansiyeli hakkında yetersiz kalır ve sayısal analiz gerekliliği ortaya çıkar. [9][10][11] Kas güçsüzlüğü ile karşılaşılan durumlarda birçok adaptasyon mekanizması devreye girer. Öncelikle artmış motor kontrol vasıtası ile enerji tasarrufu sağlanır ve normale yakın yürüme biçimine ulaşılır.…”