Presenting symptoms and referral to specialized healthcare among patients with bulbar-onset ALS
Among the 110 patients with buALS, 64 (58%) were primarily referred to a neurologist, 28 (25%) to an ORL, 12 (11%) to internal medicine, and 5 (5%) to a phoniatrician. Among the 33 patients initially examined by an ORL or phoniatrician, the mean delay in referral to an academic neurology center was 56 days (median 26, standard deviation (SD) ± 78, range 0–337). In 25 (76%) patients, a clear suspicion of a neuromuscular disease existed and patients were referred to a neurologist primarily within one month. Among the remaining 8 (24%) patients, the neuromuscular etiology was missed and referral was delayed for up to 1 year. Several reasons explain these difficulties in understanding the neurological nature of the disease symptoms and signs. A tumor was suspected in two patients presenting with constant supraglottic spasticity, obstruction, and a tense voice. In six patients, mild symptoms were linked to misleading findings such as a loose denture, Reinke’s edema, vocal fold atrophy, or laryngeal reflux, while the incipient dysarthria or dysphagia was ignored. In several of these patients, examination was completed by a less experienced specialist, including two co-authors, 10 years ago.
Among all buALS patients, the most common presenting symptom was dysarthria, observed in 89 (81 %) patients, followed by dysphagia in 26 (24%) patients, and respiratory difficulties in 7 (6.6%) patients. A combination of symptoms was reported in a total of 12 (11%) patients.
In buALS, the mean time from symptom onset to the first healthcare provider visit was 4.4 months (range 0–23, SD ± 4.77), 7.1 months (range 0–55, SD ± 8.43) to a specialist visit, and 8.5 months (range 0–56, SD ± 9.73) to a neurologist referral. In some non-sporadic ALS patients, disease progression was extremely slow resulting in a long diagnostic delay. In order to capture the typical course of disease for buALS, we omitted from our analysis outliers with a delay exceeding 2 years from symptom onset to the first healthcare provider visit.
At some point during follow-up, 48 of 110 (44%) patients were referred to an ORL, 17 (16%) to a phoniatrician, and 102 (94%) to an SLP. Among all buALS patients, 3 (3%) were not referred to any such specialist. All patients were ultimately referred to an academic neurology center.
The most common finding reported at an ORL, phoniatrician, or SLP consultation was dysarthria in 100 (91%) patients, followed by dysphagia in 94 (85%), fasciculations of the tongue in 77 (70 %), vocal hoarseness in 50 (45%), and vocal nasality in 44 (40%) patients. The most common laryngeal findings were a limitation to the vocal fold abduction movement in 11 (20%) patients, vocal fold atrophy in 8 (7.2%), and laryngeal spasm/vocal cord dysfunction in 2 (1.8%) patients.