Allen D. Hillel

Amyotrophic Lateral Sclerosis Severity Scale

The amyotrophic lateral sclerosis (ALS) severity scale has been developed to provide an ordinal staging system and a means of rapid functional assessment for patients with ALS. The scale allows an examiner to evaluate the symptoms of ALS numerically in four categories that describe speech, swallowing, lower extremity, and upper extremity abilities. These scores, combined with a vital capacity measured on a hand-held respirometer, provide a rapid, accurate assessment of a patients disease status and can be used for treatment planning. The ALS severity scale has been shown to have an average estimated reliability coefficient of 0.95 between examiners. Speech ratings were correlated greater than 0.80 for objective speech measures. Rates of progression of the total score in a small group of patients ranged from -3.4 to -24.0 points/year with a mean of -11.3 points/year.

The study of laryngeal muscle activity in normal human subjects and in patients with laryngeal dystonia using multiple fine-wire electromyography

The normal human larynx performs numerous complex tasks with nearly complete reliability. These tasks require precise timing of movements that are effected by the laryngeal muscles. The most specific method to examine these muscles is by electromyography. Although many studies on laryngeal electromyography have been reported using multichannel recordings, none has provided a detailed analysis of each laryngeal muscles role during a variety of common tasks and the spectrum of normative values. Simultaneous eight‐channel, fine‐wire electromyographic recordings were made in 11 human subjects. The timing patterns of the laryngeal muscles during the coordinated efforts for phonation and other common glottic functions were examined. In addition, normative values for latencies and amplitudes of response were determined. During simple phonation, a “set pattern” for the thyroarytenoid, lateral cricoarytenoid, and interarytenoid muscles was found. The thyroarytenoid and lateral cricoarytenoid muscles demonstrated a burst at onset preceding phonation and then decreased activity, whereas the interarytenoid sustained glottic position during phonation. The coordination of the laryngeal muscles was similarly determined for connected speech, respiration, Valsalva maneuver, cough, throat‐clear task, and swallow. These patterns of response, the latencies for activities, and the amplitudes of response in normal subjects provided the basis to examine the abnormal laryngeal function in a group of 59 patients with four clinical varieties of laryngeal dystonia (adductor, tremor, abductor, and mixed). The findings include abnormal patterns of response, increased latencies, and increased amplitudes of recruitment in many tasks including nonphonatory tasks. Although specific distinctions were noted in each group, the responses were remarkably similar, indicating that all clinical varieties of laryngeal dystonia should be classified as mixed dystonia with a clinical preponderance for one or more types of behavior.

Association of laryngopharyngeal reflux disease and subglottic stenosis.

Laryngopharyngeal reflux (LPR) disease and extraesophageal manifestations of gastroesophageal reflux have been recognized to have dramatic effects in the upper airways. Patient-reported symptoms alone underestimate the presence of LPR, making accurate clinical diagnosis difficult. Many previous studies examine populations with only standard dual-probe pH testing that does not include a test probe in the pharynx. Therefore, documentation of acid exposure at the laryngeal inlet is lacking. In adult patients with subglottic stenosis (SGS), whether due to granulomatous disease or presumed idiopathic causes, LPR is often a contributing or causative factor. a retrospective chart review from 1991 to 1999 identified 19 patients with SGS. Ten of the 19 patients had concomitant disease states, including sarcoidosis (3), Wegeners granulomatosis (3), laryngeal trauma (3), and a history of intubation (1). Fourteen patients underwent 24-hour ambulatory pH probe testing with 3- or 4-port probes. The proximal port in either catheter was positioned by manometric guidance directly behind the laryngeal inlet. Measurements of pH of less than 4 were recorded at the level of the larynx in 12 of the 14 patients tested (86%). This finding was noted in half of the patients despite empirical therapy with proton pump inhibitors at the time of the testing. Seven of 10 patients with underlying disease were studied, and all demonstrated acid reflux in the hypopharynx. In 9 patients, the stenosis was presumed to be idiopathic. Five of the 7 patients (71%) with idiopathic SGS tested had positive pH probe studies (pH below 4 in the pharyngeal probe). Our results demonstrate a strong association of LPR and SGS. In the idiopathic group, reflux is the probable cause of their stenosis. In the group of patients with underlying disease states, reflux was involved in all tested patients and likely acts as a synergistic factor that stimulates their granulomatous disease to react and subsequently result in the development of stenosis. Evaluation for LPR with pharyngeal pH testing should be performed in all patients with SGS.

Recommendations of the Neurolaryngology Study Group on laryngeal electromyography

The Neurolaryngology Study Group convened a multidisciplinary panel of experts in neuromuscular physiology, electromyography, physical medicine and rehabilitation, neurology, and laryngology to meet with interested members from the American Academy of Otolaryngology Head and Neck Surgery, the Neurolaryngology Subcommittee and the Neurolaryngology Study Group to address the use of laryngeal electromyography (LEMG) for electrodiagnosis of laryngeal disorders. The panel addressed the use of LEMG for: 1) diagnosis of vocal fold paresis, 2) best practice application of equipment and techniques for LEMG, 3) estimation of time of injury and prediction of recovery of neural injuries, 4) diagnosis of neuromuscular diseases of the laryngeal muscles, and, 5) differentiation between central nervous system and behaviorally based laryngeal disorders. The panel also addressed establishing standardized techniques and methods for future assessment of LEMG sensitivity, specificity and reliability for identification, assessment and prognosis of neurolaryngeal disorders. Previously an evidence-based review of the clinical utility of LEMG published in 2004 only found evidence supported that LEMG was possibly useful for guiding injections of botulinum toxin into the laryngeal muscles. An updated traditional/narrative literature review and expert opinions were used to direct discussion and format conclusions. In current clinical practice, LEMG is a qualitative and not a quantitative examination. Specific recommendations were made to standardize electrode types, muscles to be sampled, sampling techniques, and reporting requirements. Prospective studies are needed to determine the clinical utility of LEMG. Use of the standardized methods and reporting will support future studies correlating electro-diagnostic findings with voice and upper airway function.

Laryngoscopy and pharyngeal pH are complementary in the diagnosis of gastroesophageal-laryngeal reflux.

Pharyngeal pH monitoring and laryngoscopy are routinely used to diagnose gastroesophageal-laryngeal reflux as a cause of respiratory symptoms. Although their use seems intuitive, their ultimate diagnostic value is yet to be defined. We studied 10 asymptomatic (control) subjects and 76 patients with respiratory symptoms. Both patients and control subjects were given a symptom questionnaire. Each underwent direct laryngoscopy using the reflux finding score (RFS) to grade laryngeal injury, esophageal manometry, and 24-hour esophagopharyngeal pH monitoring. The patients were then classified as RFS+, if the score was greater than 7, and pharyngeal reflux (PR)+, if they had more than one episode of PR detected during pH monitoring. The most common symptoms reported by patients were hoarseness (87%), cough (53%), and heartburn (50%). Control subjects had a significantly lower RFS (2.1 vs. 9.6, P < 0.01) and fewer episodes of PR (0.2 vs. 3.4, P < 0.01), than patients. None of the control subjects had more than one episode of PR during a 24-hour period. Fifty patients (66%) were RFS+ and 26 (34%) were RFS—. Thirty-two patients (42%) were PR+ and 44 (58%) were PR-. Fifteen patients had a normal RFS and no PR (group I = RFS—/PR—). Forty patients had discordance between the laryngoscopic findings and the pH monitoring (group II = RFS—/PR + or RFS+/PR—). Twenty-one patients had both an abnormal RFS and PR (group III = RFS+/PR+). Patients in group III had significantly higher heartburn scores and distal esophageal acid exposure. Eighty-three percent of patients in group III but only 44% in group I improved their respiratory symptoms as a result of antireflux therapy. An abnormal PR or RFS differentiates patients with laryngeal symptoms from control subjects. Agreement between PR and RFS helps establish or refute the diagnosis of gastroesophageal reflux as a cause of laryngeal symptoms. Patients who are RFS+ and PR—may have laryngeal injury from another source, whereas patients who are RFS— and PR+ may not have acid entering the larynx, despite the presence of PR. Patients who are RFS+ and PR+ have more severe gastroesophageal reflux disease and their reflux causes laryngeal damage. Laryngoscopy and pharyngeal pH monitoring should be considered complementary studies in establishing the diagnosis of laryngeal injury induced by gastroesophageal reflux.

Management of oral-pharyngeal dysphagia symptoms in amyotrophic lateral sclerosis

Oral and pharyngeal dysphagia is a common symptom in patients with amyotrophic lateral sclerosis (ALS) and is the result of a progressive loss of function in bulbar and respiratory muscles. Clinicians involved in the management of ALS patients should be familiar with the common clinical findings and the usual patterns of temporal progression. The prevention of secondary complications, such as nutritional deficiency and dehydration that compound the deteriorating effects of the disease, requires careful monitoring of each patients functional status and timely intervention with appropriate management techniques.

Evaluation and management of bilateral vocal cord immobility.

Bilateral vocal cord immobility can be life threatening for some patients. Others, who have an open glottic chink, may have a breathy dysphonia, intermittent dyspnea, and stridor. These signs and symptoms may also be found in a number of other conditions that cause weakness or paradoxical motion of the vocal cords that mimics paralysis. These other conditions include central nervous system diseases, neuromuscular disorders, laryngospasm, and psychogenic disorders. In addition, patients with cricoarytenoid joint immobility or interarytenoid scar can also have similar symptoms at presentation. It is critical to consider the differential diagnosis of an assumed bilateral vocal cord paralysis and understand the management of paradoxical movement, weakness, joint fixation, interarytenoid scar, laryngospasm, and psychogenic disorders. The treatment for bilateral immobility should proceed only after a thorough evaluation, which might include electromyography and/or examination during general anesthesia under dense anesthetic paralysis. Reconstructive procedures are the treatments of choice, and destructive procedures should be chosen only as a last resort.

Postradiotherapy surveillance practice for head and neck squamous cell carcinoma—too much for too little?

Limited information is available regarding surveillance patterns after head and neck cancer radiotherapy. We cataloged follow‐up for a specified patient cohort treated at three neighboring university, community, and Veterans Administration institutions.

CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene

Background: Recently, mutations in the transient receptor potential cation channel, subfamily V, member 4 gene (TRPV4) have been reported in Charcot-Marie-Tooth Type 2C (CMT2C) with vocal cord paresis. Other mutations in this same gene have been described in separate families with various skeletal dysplasias. Further clarification is needed of the different phenotypes associated with this gene. Methods: We performed clinical evaluation, electrophysiology, and genetic analysis of the TRPV4 gene in 2 families with CMT2C. Results: Two multigenerational families had a motor greater than sensory axonal neuropathy associated with variable vocal cord paresis. The vocal cord paresis varied from absent to severe, requiring permanent tracheotomy in 2 subjects. One family with mild neuropathy also manifested pronounced short stature, more than 2 SD below the average height for white Americans. There was one instance of dolichocephaly. A novel S542Y mutation in the TRPV4 gene was identified in this family. The other family had a more severe, progressive, motor neuropathy with sensory loss, but less remarkable short stature and an R315W mutation in TRPV4. Third cranial nerve involvement and sleep apnea occurred in one subject in each family. Conclusion: CMT2C with axonal neuropathy, vocal cord paresis, and short stature is a unique syndrome associated with mutations in the TRPV4 gene. Mutations in TRPV4 can cause abnormalities in bone, peripheral nerve, or both and may result in highly variable orthopedic and neurologic phenotypes.

DYSPHAGIA CAUSED BY NEUROLOGIC DEFICITS

This article provides a brief review of the neurophysiology behind the normal swallow. The examination and work-up of a patient with dysphagia is then detailed. Finally, the major neurologic conditions associated with dysphagia are considered.