Abstract
OBJECTIVES
Given its rarity and the lack of clear clinical markers, amyotrophic
lateral sclerosis (ALS) remains a diagnostic challenge. Since
bulbar-onset ALS (buALS) presents with impaired speech or swallowing,
patients are often primarily referred to an otolaryngologist (ORL) or
phoniatrician. We analyzed the role of such specialists in ALS
diagnostics and treatment.
PARTICIPANTS
We reviewed data for all 327 patients treated for ALS through the
Hospital District of Helsinki and Uusimaa (HUS) between 2010 and 2014,
focusing specifically on 110 (34%) patients presenting with bulbar
nerve onset (buALS).
MAIN OUTCOME MEASURES
The presenting symptoms, referral to specialized care, and to a
neurology clinic were assessed. Indications and findings from swallowing
studies were reviewed as well as the incidence of percutaneous
endoscopic gastrostomy (PEG) and tracheostomy.
RESULTS
Among the 110 patients with buALS, 64 (58%) were primarily referred to
a neurologist, 28 (25%) to an ORL, and 5 (5%) to a phoniatrician. The
most common presenting symptom was dysarthria in 89 patients, (81%),
followed by dysphagia in 26 (24%). In most cases, an ORL or
phoniatrician suspected a neuromuscular disease; however, in 8 (24%)
cases, the neurological etiology of symptoms was missed. Overall, 49
(45%) patients underwent a swallowing study and 86 (78%) patients
underwent PEG placement.
CONCLUSIONS
Among buALS patients, 30% initially consulted an ORL or phoniatrician
and 45% underwent a swallowing study. Based on our results, swallowing
studies rarely lead to immediate PEG placement. An initial visit to
other specialists had no impact on diagnostic delays or survival.