Spasmodic Dysphonia Research Articles

ROC Analysis Cut-off Points of Hellenic Voice Handicap Index for Neurogenic Voice Disorders Patients: an Exploratory Study

The inclusion of subjective methods for evaluating Voice Disorders is proven an essential factor for diagnosis as these methods include self-reported questionnaires (eg, Voice Handicap Index-VHI) for everyday clinical practice. In turn, by obtaining cut-off scores of self-perceived questionnaires intended for assessment procedures of different voice disorders (eg, patients with neurological problems), the clinicians might be helped toward finding their patients' needs leading to better monitoring, and treatment suggestions. Consequently, the purpose of this study was to estimate the cut-off scores for the Greek VHI relevant to patients with neurogenic voice disorders. Ninety subjects participated in this research. Sixty-six of them served as the control group while the remaining 24 patients exhibited Neurogenic Voice Disorders (eg, spasmodic dysphonia or vocal fold paralysis). They filled in the VHI and the Voice Evaluation Template. All participants were examined with the use of video laryngeal endoscopy and stroboscopy. The analysis revealed higher medians in all domains (of the VHI) for the patients compared to the control group. The cut-off points were estimated at the values of 24.50 (Total Score-AUC 0.932, P=0.000), 9.00 (Functional Domain-AUC 0.917, P=0.000), 10.00 (Physical Domain-AUC 0.948, P=0.000), and 9.00 (Emotional Domain-AUC 0.830, P=0.000). The estimated cut-off scores are in agreement with previous studies. These scores could probably used to enhance therapeutic monitoring of patients who suffer from neurogenic voice disorders. This study underlines the importance of considering different cutoff points for individuals with voice disorders due to diverse neurogenic etiologies.

Brain Structural Changes in Focal Dystonia-What About Task Specificity? A Multimodal MRI Study.

The neural basis of task specificity in dystonia is still poorly understood. This study investigated gray and white matter (WM) brain alterations in patients with task-specific dystonia (TSD) and non-task-specific dystonia (NTSD). Thirty-six patients with TSD (spasmodic dysphonia, writer's cramp), 61 patients with NTSD (blepharospasm, cervical dystonia), and 83 healthy controls underwent 3D T1-weighted and diffusion tensor magnetic resonance imaging (MRI). Whole brain cortical thickness and voxel-based morphometry; volumes of basal ganglia, thalamus, nucleus accumbens, amygdala, and hippocampus; and WM damage were assessed. Analysis of variance models were used to compare MRI measures between groups, adjusting for age and botulinum toxin (BoNT) treatment. The comparison between focal dystonia patients showed cortical thickness and gray matter (GM) volume differences (ie, decreased in NTSD, increased in TSD) in frontal, parietal, temporal, and occipital cortical regions; basal ganglia; thalamus; hippocampus; and amygdala. Cerebellar atrophy was found in NTSD patients relative to controls. WM damage was more severe and widespread in task-specific relative to NTSD patients. TSD patients receiving BoNT, relative to nontreated patients, had cortical thickening and increased GM volume in frontoparietal, temporal, and occipital regions. NTSD patients experiencing pain showed cortical thickening of areas involved in pain-inhibitory mechanisms. TSD and NTSD are characterized by opposite alterations of the main cortical and subcortical sensorimotor and cognitive-controlling brain structures, suggesting the possible presence of different pathophysiological and/or compensatory mechanisms underlying the complexity of the two clinical phenotypes of focal dystonia. © 2020 International Parkinson and Movement Disorder Society.

DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations.

To report 4 novel TUBB4A mutations leading to laryngeal and cervical dystonia with frequent generalization. We screened 4 families including a total of 11 definitely affected members with a clinical picture resembling the original description. Four novel variants in the TUBB4A gene have been identified: D295N, R46M, Q424H, and R121W. In silico modeling showed that all variants have characteristics similar to R2G. The variants segregate with the disease in 3 of the families with evidence of incomplete penetrance in 2 of them. All 4 variants would be classified as likely pathogenic. The clinical picture particularly included laryngeal dystonia (often the site of onset), associated with cervical and upper limb dystonia and frequent generalization. Laryngeal dystonia was extremely prevalent (>90%) both in the original cases and in this case series. The hobby horse gait was evident in only 1 patient in this case series. Our interpretation is that laryngeal involvement is a hallmark feature of DYT-TUBB4A. Nevertheless, TUBB4A mutations remain an exceedingly rare cause of laryngeal or other isolated dystonia.

An Auditory-Perceptual and Pupillometric Study of Vocal Strain and Listening Effort in Adductor Spasmodic Dysphonia

This study evaluated ratings of vocal strain and perceived listening effort by normal hearing participants while listening to speech samples produced by talkers with adductor spasmodic dysphonia (AdSD). In addition, objective listening effort was measured through concurrent pupillometry to determine whether listening to disordered voices changed arousal as a result of emotional state or cognitive load. Recordings of the second sentence of the “Rainbow Passage” produced by talkers with varying degrees of AdSD served as speech stimuli. Twenty naïve young adult listeners perceptually evaluated these stimuli on the dimensions of vocal strain and listening effort using two separate visual analogue scales. While making the auditory-perceptual judgments, listeners’ pupil characteristics were objectively measured in synchrony with the presentation of each voice stimulus. Data analyses revealed moderate-to-high inter- and intra-rater reliability. A significant positive correlation was found between the ratings of vocal strain and listening effort. In addition, listeners displayed greater peak pupil dilation (PPD) when listening to more strained and effortful voice samples. Findings from this study suggest that when combined with an auditory-perceptual task, non-volitional physiologic changes in pupil response may serve as an indicator of listening and cognitive effort or arousal.

The prevalence and clinical features of spasmodic dysphonia: A review of epidemiological surveys conducted in Japan

ObjectivesSpasmodic dysphonia (SD) is a rare disease and its epidemiological status is unclear. This review aimed to explore the current prevalence and clinical features of SD in Japan. MethodsWe reviewed Japanese surveys of SD and compared them to surveys reported from other countries. We focused on SD prevalence, clinical features (SD type, sex and age), and treatment modalities. ResultsThe SD prevalence in Japan was 3.5–7.0/100,000, similar to that in Rochester (NY, USA) and Iceland. Adductor SD predominated (90–95%) and females were four-fold more likely to be affected than males. Mean age at onset was approximately 30 years in Japan. Several years elapsed from onset to diagnosis. The most frequent treatment was botulinum toxin injection, and surgical intervention, particularly type 2 thyroplasty is becoming more popular. ConclusionsOur review demonstrated some differences of clinical features of SD in Japan compared with other countries, such as a greater female predominance and younger age of onset. Many physicians and patients may be unfamiliar with the clinical features of SD leading to delayed of diagnosis. Therefore, we proposed diagnostic criteria to facilitate early diagnosis and an appropriate choice of treatment modalities.

The Therapeutic Use of Botulinum Toxin Injections for Conditions Affecting the Head and Neck

Botulinum toxin has been used for the past few decades to treat conditions in the head and neck. In recent years, its use is expanding. This article presents a summary of the wide range of uses in the laryngeal, pharyngeal, cervical, oromandibular and facial muscles. As well as the uses discussed in this article, botulinum toxin has also been used more recently for a newly recognized condition: retrograde cricopharyngeus dysfunction. The condition and its treatment are discussed. Botulinum toxin is a safe and generally successful treatment for spasmodic dysphonia, Meige syndrome and oromandibular and cervical dystonia; neurological conditions, such as multiple system atrophy and migraine; and finally the oropharynx, post-laryngectomy, cricopharyngeal dysphagia, Zenker’s diverticulum and retrograde cricopharyngeal dysfunction disorder.

KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset

IntroductionMyoclonus-dystonia is a rare syndrome typically occurring during childhood or adolescence, mainly due to SGCE pathogenic variants. Early-onset, atypical presentations of myoclonus-dystonia have recently been associated with KCTD17 variants. In these cases, laryngeal involvement was reported in the advanced stages. MethodsWe evaluated a 52-year-old man with myoclonus-dystonia and positive family history. He underwent an electromyographic investigation of vocal cord and forearm muscles. Whole-exome sequencing was also performed. ResultsOnset of symptoms was at 51 years with dysphonia and vocal tremor. Electromyography disclosed abductor spasmodic dysphonia and laryngeal myoclonus. The patient later developed writer's cramp, upper limb myoclonus, and blepharospasm. Botulinum toxin injection led to improvement of the writer's cramp and to a lesser extent of the spasmodic dysphonia. Genetic analysis identified a heterozygous missense variant in exon 2 of KCTD17: c.229 C > A (p.Leu77Ile), consistently predicted as damaging. ConclusionsWe suggest that the KCTD17-associated phenotypic spectrum may include late onset (even in late adulthood) as well as early and prominent laryngeal involvement.

Novel Adaptation of a Validated Tactile Aesthesiometer to Evaluate Laryngopharyngeal Sensation.

To evaluate laryngopharyngeal sensation at specific subsites using a novel adaptation of a buckling force aesthesiometer for delivery of calibrated tactile stimuli. Cross-sectional. Twenty-two healthy adults (12 men, 10 women) were tested for responses to tactile forces, using 30-mm 6-0, 5-0, and 4-0 nylon monofilaments to map sensation of the aryepiglottic (AE) fold, lateral pyriform sinus (PS), and medial PS bilaterally. The outcome measures were the laryngeal adductor reflex (LAR) and patient reported rating of perceptual strength. Rates of triggered LAR response grew monotonically with increasing tactile force at a mean (SD) stimulus duration of 663 (164) msec across all three subsites. The AE fold and medial PS had similar profiles and were the most responsive, while the lateral PS was the least responsive. Low force (6-0) response rate was ≤14% for all subsites. High force (4-0) response rate was 91% for AE fold and medial PS, and 23% for lateral PS. The perceptual strength gradient was in the lateral to medial trajectory. Normative data for LAR response rates to low, medium, and high stimulation forces will be useful to assess sensory dysfunction in a variety of laryngopharyngeal disorders, including aspiration, dysphagia, chronic cough, and spasmodic dysphonia. In turn, that information will guide the creation of innovative treatments. LAR response profiles to low and high force stimuli will inform the development of screening tools to diagnose laryngopharyngeal hypersensitivity and hyposensitivity conditions. 3b Laryngoscope, 131:1324-1331, 2021.

Validation of the Communicative Participation Item Bank as an Outcome Measure for Spasmodic Dysphonia.

Current patient-reported outcome measures do not adequately capture the impact of spasmodic dysphonia (SD) on communication in daily life situations. The aim of this study was to validate the Communicative Participation Item Bank (CPIB), which specifically measures a disease's impact on daily conversational situations, as an outcome measure for SD. Multi-institutional prospective cohort study. A prospective study was conducted with administration of the 46-question CPIB and the Voice Handicap Index-10 (VHI-10) to 190 participants with SD before (time 1) and 6 weeks after (time 2) botulinum toxin injection. Differential item function (DIF) analyses were performed to examine potential item bias. Paired t-tests were used to assess change in each of the CPIB and VHI-10 scores after treatment. Pearson correlations were calculated between the CPIB and VHI-10. DIF analyses revealed no clinically meaningful difference between the item parameters generated for this SD sample and the original CPIB calibration sample. There were statistically significant changes between the pre-treatment and post-treatment time points for both the CPIB and VHI-10. Correlations between the CPIB and VHI were moderate-high. The CPIB item bank, General Short Form, and scoring parameters can be used with people with SD for valid and reliable measurement of the impact of communication disorders on communication in everyday life. The CPIB is sensitive to changes with intervention, proving useful for clinical and research purposes to assess the efficacy and effectiveness of interventions. Level 2, prospective observational research with an experimental design (ie, cohort study). Laryngoscope, 131:859-864, 2021.

Acoustic Model of Perceived Overall Severity of Dysphonia in Adductor-Type Laryngeal Dystonia.

Purpose This study is a secondary analysis of existing data. The goal of the study was to construct an acoustic model of perceived overall severity of dysphonia in adductory laryngeal dystonia (AdLD). We predicted that acoustic measures (a) related to voice and pitch breaks and (b) related to vocal effort would form the primary elements of a model corresponding to auditory-perceptual ratings of overall severity of dysphonia. Method Twenty inexperienced listeners evaluated the overall severity of dysphonia of speech stimuli from 19 individuals with AdLD. Acoustic features related to primary signs of AdLD (hyperadduction resulting in pitch and voice breaks) and to a potential secondary symptom of AdLD (vocal effort, measures of relative fundamental frequency) were computed from the speech stimuli. Multiple linear regression analysis was applied to construct an acoustic model of the overall severity of dysphonia. Results The acoustic model included an acoustic feature related to pitch and voice breaks and three acoustic measures derived from relative fundamental frequency; it explained 84.9% of the variance in the auditory-perceptual ratings of overall severity of dysphonia in the speech samples. Conclusions Auditory-perceptual ratings of overall severity of dysphonia in AdLD were related to acoustic features of primary signs (pitch and voice breaks, hyperadduction associated with laryngeal spasms) and were also related to acoustic features of vocal effort. This suggests that compensatory vocal effort may be a secondary symptom in AdLD. Future work to generalize this acoustic model to a larger, independent data set is necessary before clinical translation is warranted.

A Case of Thyroarytenoid Myectomy with Selective Recurrent Laryngeal Nerve Section in Intractable Spasmodic Dysphonia: A Long-Term Follow-Up

Spasmodic dysphonia is a disease presumed to be a form of focal laryngeal dystonia. The widely used first-line treatment is botulinum toxin injection to the thyroarytenoid muscles. In spite of the effectiveness and safety of this method, it has a temporary effect that lasts only several months, resulting the patients’ symptom fluctuating, called ‘Botox rollercoaster.’ Some surgical techniques had tried, but they had shown several limitations including high rate of recurrence. We tried thyroarytenoid myectomy with selective recurrent laryngeal nerve section in a patient with intractable spasmodic dysphonia. This procedure is an alternative treatment of spasmodic dysphonia to prevent recurrence and improve symptoms. During five years of follow-up, she has shown steady quality voice without any complication. To the best of our knowledgement, this is the longest follow-up case of this operation in South Korea. Key words: Spasmodic dysphonia ㆍ Thyroarytenoid myectomy ㆍ Botulinum toxin injection 핵심용어: 연축성 ë°œì„±ìž¥ì• ã† 갑상피열근 ì ˆì œìˆ ã† 보툴리눔 ë ì†Œ ì£¼ìž ìˆ

Altered sensory system activity and connectivity patterns in adductor spasmodic dysphonia

Adductor-type spasmodic dysphonia (ADSD) manifests in effortful speech temporarily relievable by botulinum neurotoxin type A (BoNT-A). Previously, abnormal structure, phonation-related and resting-state sensorimotor abnormalities as well as peripheral tactile thresholds in ADSD were described. This study aimed at assessing abnormal central tactile processing patterns, their spatial relation with dysfunctional resting-state connectivity, and their BoNT-A responsiveness. Functional MRI in 14/12 ADSD patients before/under BoNT-A effect and 15 controls was performed (i) during automatized tactile stimulus application to face/hand, and (ii) at rest. Between-group differential stimulation-induced activation and resting-state connectivity (regional homogeneity, connectivity strength within selected sensory(motor) networks), as well as within-patient BoNT-A effects on these differences were investigated. Contralateral-to-stimulation overactivity in ADSD before BoNT-A involved primary and secondary somatosensory representations, along with abnormalities in higher-order parietal, insular, temporal or premotor cortices. Dysphonic impairment in ADSD positively associated with left-hemispheric temporal activity. Connectivity was increased within right premotor (sensorimotor network), left primary auditory cortex (auditory network), and regionally reduced at the temporoparietal junction. Activation/connectivity before/after BoNT-A within-patients did not significantly differ. Abnormal ADSD central somatosensory processing supports its significance as common pathophysiologic focal dystonia trait. Abnormal temporal cortex tactile processing and resting-state connectivity might hint at abnormal cross-modal sensory interactions.

Adductor spasmodic dysphonia - A detailed case report on assessment and management

Spasmodic dysphonia is a neurogenic voice disorder which is characterized by severe and spasmodic problems of vocal fold approximation. Symptoms of the disorder consist of several sensations like strain and strangle which varies from mild to severe.

What Is New in Laryngeal Dystonia: Review of Novel Findings of Pathophysiology and Novel Treatment Options

The aim of this review is to present the current literature on pathophysiology, evaluation, and management of laryngeal dystonia. Recent evidence suggests loss of cortical inhibition, and sensory dysfunction plays an important role in the pathophysiology of laryngeal dystonia. New treatments addressing these changes include electrical stimulation for neuromodulation of the larynx, vibrotactile therapy, and sodium oxybate. Preliminary investigations are promising and these may impact the future of care for laryngeal dystonia patients. The current literature emphasizes a new understanding of the pathophysiology of laryngeal dystonia which has led to investigation of novel therapies.

Patient Experience Contributing to Outcomes of Laryngeal Botulinum Toxin Injection

Laryngeal Botulinum Toxin injection (LBTX) in the adductor musculature is the current therapy for Adductor Spasmodic Dysphonia. This study explores nonbiological factors that can affect the patient experience during this procedure and their association with better or worse self-reported effectiveness. A 14 item survey was used to evaluate the patient experience in patients who had undergone LBTX in Mayo Clinic Jacksonville, Florida, during 2019. Information from the survey, previous medical history, and demographic data were collected, and a descriptive analysis was performed. Of the 36 patients who participated, the mean age was 65 years and a female predominance was found (66%). The average age at onset of symptoms was 57 years, and voice tremor was associated with 36.1% of patients. Preprocedure education was recognized as a factor affecting outcomes in 87% of patients; 11 patients reported that body position used during the injection could affect the results. Pain or stress experienced at the time of procedure was referred in one-third of patients as an influencing factor too. This study has shown that nonpharmacological factors such as education before the procedure, body position, pain, and stress sensation before LBTX may have a role in the botulinum toxin effect on Adductor Spasmodic Dysphonia patients. This study is the first to describe these variables qualitatively, and further studies may help to improve the patient experience and outcome of LBTX around the world.

Type II Thyroplasty Using New Titanium Bridge for Patients of Adductor Spasmodic Dysphonia

Type II Thyroplasty Using New Titanium Bridge for Patients of Adductor Spasmodic Dysphonia

Retrospective Analysis of Phonatory Outcomes after CO2 Laser Thyroarytenoid Myoneurectomy in Patients with Adductor Spasmodic Dysphonia

Retrospective Analysis of Phonatory Outcomes after CO2 Laser Thyroarytenoid Myoneurectomy in Patients with Adductor Spasmodic Dysphonia

Demographics and coexisting tremor, cervical dystonia and vocal fold disorders in a group of patients with spasmodic dysphonia.

SUMMARYThe primary aim of this study is to describe the demographic and clinical characteristics of a group of patients with spasmodic dysphonia (SD). As a secondary aim, we examined associations of age at SD diagnosis and sex with co-existing cervical dystonia and nonvocal tremor; as well as association of vocal tremor with sex and nonvocal tremor. Seventy-four consecutive patients who were treated for SD at the Mayo Clinic in Jacksonville, Florida between October 1, 2015 and March 31, 2018 were included in this retrospective study. Information was collected regarding sex, age at SD diagnosis, BMI, SD diagnosis type, recent history of major stress/depression, recent history of upper respiratory tract infection (URTI), co-existing neurological diseases, and co-existing vocal disorders. The majority of patients were female (75.7%) and median age at SD diagnosis was 61 years (range: 17 – 80 years). The median BMI was 25.7 (range: 16.9 – 63.7). The most common diagnostic combinations were adductor dysphonia only (52.7%), adductor dysphonia and MTD (18.9%), and adductor dysphonia and tremor (17.6%). Co-existing tremor was present in 36.6% of patients and cervical dystonia was present in 15.5%. Co-existing vocal disorders were observed as follows: paresis/paralysis (3.1%), cyst (3.1%), mass (4.7%), polyp (1.6%), and anterior glottis web (1.6%). Sex was not notably associated with either cervical dystonia or nonvocal tremor (all P ≥ 0.30). Older age at SD diagnosis was significantly associated with cervical dystonia (P = 0.049), but not nonvocal tremor (P = .22). Other than co-existing tremor, most patients had no co-existing neurological diseases or vocal disorders. Additionally, patients who were older at SD diagnosis were significantly more likely to have co-existing cervical dystonia.

Laryngeal Botulinum Toxin Injection: Can It Be a Cause of Obstructive Sleep Apnea as an Adverse Effect?

Spasmodic dysphonia is a chronic voice disorder that is characterized by involuntary spasms of the laryngeal muscles during speech production. Botulinum toxin injection into to the laryngeal muscles is the most common and effective treatment of choice for symptoms of spasmodic dysphonia. We present a 44-year-old man with adductor spasmodic dysphonia who was diagnosed as having upper airway obstruction in a polysomnographic examination during sleep after a botulinum toxin injection.

Factors Associated with Failure of Botulinum Toxin Injection in Adductor Spasmodic Dysphonia.

Electromyography (EMG) Guided botulinum toxin (BTX) injection is considered first-line treatment for adductor spasmodic dysphonia (SD). Failure rate can range between 6% and 29%. Study objective was to determine which factors were associated with failure. This was a retrospective review conducted at a tertiary, academic center. Adductor SD patients presenting for BTX injections from August 2017 to October 2018 were eligible. Age, gender, Voice Handicap Index (VHI-10), Consensus Auditory-Perceptual Evaluation of Voice (CAPE-V), number of injections, disease duration, unilateral/bilateral injection, right/left injection, dose quantity, body mass index (BMI), professional voice user, employment, psychiatric comorbidity, breathiness, and dysphagia were investigated. Outcomes included failure as defined by the patient and dosage change. Univariate and multivariate statistical analysis was conducted. Sixty seven out of 564 injections (12%) were categorized as failure by 131 patients. In multivariate analysis, dosage change was associated with shorter duration of good effect (P < .001), BTX dose (P = .016), breathiness (P < .001), bilateral injection (P = .024), dysphagia (P = .012) and professional voice user (P = .021). Failure was associated with first injection with a new physician (P < .001), professional voice user P < .001) and lack of breathiness (P = .003). Failure rate was not associated with age, gender, VHI-10, CAPE-V, disease duration, left/right injection, dose quantity, BMI, psychiatric comorbidity, and dysphagia. Failure rate was 12% and associated with patients' first injection with a physician, professional voice user, and lack of breathiness. Dosage change occurred in 29% of injections and was associated with injection side effects, bilateral injections, BTX dose, professional voice user, and shorter duration of good effect.Level of evidence: 3.