Discussion
We characterized 176 newly diagnosed ALS patients in the Helsinki
metropolitan region of 1.7 million inhabitants during a 5-year period
(2010–2014). The estimated annual ALS incidence of 2.1 per 100 000
mirrored reports from other European countries. Furthermore, the
proportion of patients with buALS (34%), the higher mean age at onset
in buALS (66 years) compared with extALS (59 years), and the female
predominance in buALS (66%) agree with previous
studies.12 The strength of our study setting lies in
selecting a retrospective sample, making it possible at the time of data
retrieval to trace the complete course of disease for most patients.
In our study, 48 of 110 patients (44%) with buALS were not initially
referred to a neurologist. Among 110 patients, 33 (30%) were initially
referred to an ORL/phoniatrician, typically because of dysarthria or
dysphagia. Practically all patients were referred to a neurologist at
some point, however, in 8 (24%) patients, an ORL/phoniatrician had
clear difficulties in understanding the nature of the symptoms. The
primary reasons for the diagnostic delay appeared to be the early stage
and mild symptoms of disease, physician inexperience, and, in two
patients, a constant spasticity or hyperfunction in the supraglottic
structures leading to a narrowed airway and tumor suspicion.
ORLs require awareness of the potential symptoms and signs of
bulbar-onset ALS, often presenting with dysarthria or dysphagia.
Clinical findings may include weakness in the facial muscles, palate, or
tongue, as well as fasciculations of the tongue, and a hypernasal or
breathy voice with incomplete vocal fold closure.13Dysarthria should not be regarded as a sign of laryngeal pathology. In
general, our study confirms Turner et al.’s12 findings
that, although half of all buALS patients being initially referred to
other than neurologists, this did not significantly impact diagnostic
delays or survival.
Our study also aimed to evaluate the feasibility of VFSS and FEES in
buALS patients. A recent systematic review concluded that several
assessment strategies are employed in neuromuscular diseases, depending
on the center, the country, and local protocols. In our study, 18 of 39
patients (46%) presented with aspiration in VFSS and 5 of 15 (33%) in
FEES.
An obvious advantage of FEES, performed in 14% of buALS patients, is
that patients may receive recommendations for modifying food consistency
and therapeutic strategies, and compensatory maneuvers can be evaluated
during examination with visual feedback. However, a recommendation for
complete tube feeding after VFSS or FEES in our study patients remained
extremely uncommon. Thus, the usefulness of VFSS, performed on 35% of
buALS patients, remains questionable.
In our study, 86 of 110 patients (78%) with buALS underwent PEG
placement, similar to reports from previous studies.12PEG associated with a longer survival period among buALS patients in our
study, possibly associated with improvement in nutritional status. This
finding was reversed in the extALS patient group, possibly related to
the fact that among this ALS subtype the swallowing symptoms usually
appear late. Those who underwent swallowing studies were also slightly
more likely to undergo PEG placement, which may be related to the shared
indications in both. However, the driving force in proceeding with PEG
placement was rarely a swallowing study. More likely, the decision was
forced by increasing aspiration.
Moreover, median survival among our patients, 55 months in extALS versus
34 in buALS, agrees with previous studies.7,12Survival in extALS is typically longer, since bulbar affision represents
a major cause of morbidity and mortality in ALS patients and occurs
fairly late in the limb-onset disease subgroup.
In our study, 8 (2.4%) patients were treated with a tracheostomy. This
also agrees with the low overall tracheostomy incidence in
Finland.8 Since invasive mechanical ventilation brings
about the risk of entering a complete locked-in state, this option
requires a timely consultation with an experienced specialist and a
profound consideration of end-of-life treatment
options.1,14,15