Specialists twice as fast as general neurologists at diagnosing ALS
Delays means later starts to treatment and care, which can impact outcomes
Specialists diagnose amyotrophic lateral sclerosis (ALS) twice as fast as general neurologists, research led by the ALS Association in collaboration with leading ALS clinicians shows.
The average time for ALS or neuromuscular specialists to diagnose ALS from an initial consultation is 9.6 months, but it takes about 16.7 months for nonspecialist neurologists to reach a diagnosis. This delay means treatment and supportive care is received later, which can have a significant impact on patients’ outcomes.
“This study shows that the bulk of ALS diagnostic delay may be occurring while under the care of non-neuromuscular trained neurologists who may not recognize ALS features early or not know how to refer to ALS clinics directly,” Suma Babu, assistant professor of neurology at Harvard Medical School and lead investigator, said in a press release from the ALS Association.
To help address this, researchers developed a peer-reviewed, easy-to-use tool called thinkALS, which lists some of the most common first symptoms of ALS and guides neurologists on how to make proper referrals to ALS clinics.
The study, “Contributions of neurologists to diagnostic timelines of ALS and thinkALS as an early referral instrument for clinicians,” was published in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration.
ALS is a progressive neurological disorder caused by damage to motor neurons, the nerve cells that control voluntary movement. It leads to a progressive muscle weakness, causing symptoms such as trouble moving around, swallowing, speaking, and breathing.
Receiving an accurate diagnosis of ALS is complex and time-consuming, as there is no definitive test, and because the disease shares many symptoms and signs with other neurological diseases. An ALS patient has an average of three to four consultations with various health professionals before seeing a specialist.
Delays in diagnosing ALS
Multidisciplinary ALS centers offer better survival and quality of life outcomes. However, the conventional watch-and-wait approach used by many general neurologists, where they wait until the textbook diagnostic criteria of ALS are met before making a referral, often delays the start of life-prolonging multidisciplinary care.
“This research shows that by thinking ALS early and getting patients into a multidisciplinary ALS center quickly, general neurologists can accelerate a diagnosis, improve outcomes, and enhance quality of life,” said Kuldip Dave, PhD, the ALS Association’s senior vice president for research.
Here, researchers analyzed 11 years of Medicare claims to investigate how general neurologists contribute to diagnostic delays for ALS patients. In the claims, made from 2011 to 2021, 78,520 Medicare beneficiaries were diagnosed with ALS. From this large number, a random representative sample of 3,926 patients were analyzed.
The average time between first the neurologist visit to an ALS diagnosis was 16.7 months. Neuromuscular and ALS specialists diagnosed ALS more quickly, taking an average of 9.6 months from an initial consult to a diagnosis.
Of the 7,253 doctor visits billed by neurologists in the year before an ALS diagnosis, only 121 visits were by neuromuscular-trained neurologists and physical medicine and rehabilitation physicians, meaning only a minority of patients received specialist care.
In the year leading up to an ALS diagnosis, patients received a mean of 1.5 brain MRIs, 1.6 spine MRIs, and 1.3 nerve conduction studies, diagnostic tests to measure the electrical activity of nerve cells and muscles.
Increases in reporting symptoms
In the year before an ALS diagnosis, many billable diagnosis codes for ALS-related symptoms make an appearance before the term ALS appears in claims. For example, diagnosis codes for malaise, which is a feeling of general discomfort, and fatigue doubled compared with three to six years before the diagnosis. Trouble swallowing increased from 11.7% in earlier years to 32.4% in the year leading up to a diagnosis, as did claims for muscle disorders, including muscle weakness, which rose from 12.9% to 30.8%.
“The relatively low frequency of [swallowing issues] or muscle weakness occurrence during the [presymptomatic stage] and sudden appearance of such symptoms should raise a clinical suspicion of ALS early if medical providers are equipped with good ALS awareness tools,” the researchers wrote.
The thinkALS tool, which was designed to help clinicians identify and refer potential ALS patients more quickly, lists some of the symptoms that increased in the year before a diagnosis and provides guidance for including “suspicion of ALS” in referrals to reduce delays. The goal is that all referrals indicating ALS is suspected result in a consultation at an ALS clinic within two weeks, according to thinkALS’s site.
The site also includes a multidisciplinary ALS clinic search tool to also help expedite referrals.
“We hope that the thinkALS instrument will empower clinicians to think of ALS early and refer patients to multidisciplinary ALS centers urgently,” Babu said.
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