Individualized white matter connectivity of the articulatory pathway: An ultra-high field study.

In current sensorimotor theories pertaining to speech perception, there is a notable emphasis on the involvement of the articulatory-motor system in the processing of speech sounds. Using ultra-high field diffusion-weighted imaging at 7 Tesla, we visualized the white matter tracts connected to areas activated during a simple speech-sound production task in 18 healthy right-handed adults. Regions of interest for white matter tractography were individually determined through 7T functional MRI (fMRI) analyses, based on activations during silent vocalization tasks. These precentral seed regions, activated during the silent production of a lip-vowel sound, demonstrated anatomical connectivity with posterior superior temporal gyrus areas linked to the auditory perception of phonetic sounds. Our study provides a macrostructural foundation for understanding connections in speech production and underscores the central role of the articulatory motor system in speech perception. These findings highlight the value of ultra-high field 7T MR acquisition in unraveling the neural underpinnings of speech.

Oral diadochokinetic markers of X-linked dystonia-parkinsonism.

INTRODUCTION: X-linked dystonia-parkinsonism (XDP) is a neurodegenerative disorder that may result in severe speech impairment. The literature suggests that there are differences in the speech of individuals with XDP and healthy controls. This study aims to examine the motor speech characteristics of the mixed dystonia-parkinsonism phase of XDP. METHOD: We extracted acoustic features representing coordination, consistency, speed, precision, and rate from 26 individuals with XDP and 26 controls using Praat, MATLAB, and R software. Group demographics were compared using descriptive statistics. A one-way analysis of variance (ANOVA) with Tukey's post hoc test was used to test for acoustic differences between the two groups. RESULTS: The XDP group had significantly lower consistency, speed, precision, and rate than controls (p < 0.05). For coordination, the XDP group had a smaller ratio of pause duration during transitions when compared to controls. DISCUSSION: To our knowledge, this study is the first to describe the motor speech characteristics of the mixed dystonia-parkinsonism phase of XDP. The motor speech of mixed dystonia-parkinsonism XDP is similar to prior characterizations of mixed hyperkinetic-hypokinetic dysarthria with noted differences in articulatory coordination, consistency, speed, precision, and rate from healthy controls. Identifying the motor speech components of all three phenotypes of XDP (i.e., dystonia-dominant phase, parkinsonism-dominant phase, and mixed dystonia-parkinsonism phase) is needed to establish markers of speech impairment to track disease progression.

Facial Expression after Face Transplant: An International Face Transplant Cohort Comparison.

BACKGROUND: Assessment of motor function restoration following face transplant (FT) is difficult, as standardized, bilateral tests are lacking. This study aims to bolster support for software-based analysis through international collaboration. METHODS: FaceReader (Noldus, Wageningen, The Netherlands), a facial expression analysis software, was used to analyze posttransplant videos of eight FT patients from Boston, Massachusetts (range, 1 to 9 years after transplant), two FT patients from Helsinki, Finland (range, 3 to 4 years after transplant), and three FT patients from Antalya, Turkey (range, 6.5 to 8.5 years after transplant). Age-matched healthy controls from respective countries had no history of prior facial procedures. Videos contained patients and controls performing facial expressions evaluated by software analysis using the Facial Action Coding System. Facial movements were assigned intensity score values between 0 (absent) and 1 (fully present). Maximum values were compared with respective healthy controls to calculate percentage restoration. RESULTS: Of 13 FT patients, eight patients were full FT, five patients were partial FT, and two patients were female patients. Compared with healthy controls, the median restoration of motor function was 36.9% (interquartile range, 28.8% to 52.9%) for all patients with FT ( P = 0.151). The median restoration of smile was 37.2% (interquartile range, 31.5% to 52.7%) for all patients with FT ( P = 0.065). When facial nerve coaptation was performed at the distal branch level, average motor function restoration was 42.7% ± 3.61% compared with 27.9% ± 6.71% at the proximal trunk coaptation level ( P = 0.032). Use of interpositional nerve grafts had no influence on motor outcomes. CONCLUSIONS: Software-based analysis is suitable to assess motor function after FT. International collaboration strengthens outcome data for FT. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

Rate of speech decline in individuals with amyotrophic lateral sclerosis.

Although speech declines rapidly in some individuals with amyotrophic lateral sclerosis (ALS), longitudinal changes in speech have rarely been characterized. The study objectives were to model the rate of decline in speaking rate and speech intelligibility as a function of disease onset site, sex, and age at onset in 166 individuals with ALS; and estimate time to speech loss from symptom onset. We also examined the association between clinical (speaking rate/intelligibility) measures and patient-reported measures of ALS progression (ALSFRS-R). Speech measures declined faster in the bulbar-onset group than in the spinal-onset group. The rate of decline was not significantly affected by sex and age. Functional speech was still maintained at 60 months since disease onset for most patients with spinal onset. However, the time to speech loss was 23 months based on speaking rate < 120 (w/m) and 32 months based on speech intelligibility < 85% in individuals with ALS-bulbar onset. Speech measures were more responsive to functional decline than were the patient-reported measures. The findings of this study will inform future work directed toward improving speech prognosis in ALS, which is critical for determining the appropriate timing of interventions, providing appropriate counseling for patients, and evaluating functional changes during clinical trials.

Longitudinal Recovery of Speech Motor Function Following Facial Transplantation: A Prospective Observational Study.

OBJECTIVES: Although facial transplantation is considered effective for restoring facial appearance, research on speech outcomes following surgery is limited. More research is critically needed to inform patients of expected rates and extent of recovery, and to develop interventions aimed at improving speech outcomes. METHODS: Four patients in early recovery (3 weeks-24 months postsurgery) and three patients in late recovery (36-60 months postsurgery) were included. Clinical measures of speech recovery, including speech intelligibility measured using the Sentence Intelligibility Test, a lip strength testing device (Iowa Oral Performance Instrument), and kinematic measures of lip and jaw function measured using high-resolution 3D optical motion capture were used to describe the rate and extent of functional speech and lip recovery, describe and compare the rate of functional speech recovery and kinematic lip and jaw changes in early and late stages of recovery, and explore the association between kinematic measures and functional speech. RESULTS: Speech intelligibility, speaking rate, and lip strength were below normative values in the first 2 years of postsurgery. Participants in the first 2 years of recovery demonstrated steeper slopes of improvement in clinical and kinematic measures than participants in the later stages of recovery (36-64 months). Gains in jaw range of movement and gains in lip speed and range of movement were significantly correlated with rates of sentence intelligibility improvement. Gains in lip strength were not associated with functional speech improvement. CONCLUSIONS: These findings motivate ongoing work aimed at developing interventions for improving motor speech function in this population. LEVEL OF EVIDENCE: 3 Laryngoscope, 132:2359-2367, 2022.

Predicting dysphagia onset in patients with ALS: the ALS dysphagia risk score.

Purpose: For patients diagnosed with ALS, dysphagia can result in aspiration, malnutrition, and mortality. The purpose of this study was to develop a clinical prediction model capable of identifying patients with ALS at imminent risk for developing swallowing complications. Methods: A retrospective cohort study using the Pooled Resource Open-Access ALS Clinical Trials Database (PRO-ACT) was conducted. After dividing the PRO-ACT database into development and validation cohorts with dysphagia defined from the ALS Functional Rating Scale (ALSFRS), a multivariable Cox proportional hazards regression model estimated the probability of dysphagia at 3, 6, and 12-months with subsequent evaluation of model discrimination and calibration. Results: With 2057 participants in the development cohort and 1891 in the validation cohort, the Cox model included 7 clinical variables: spinal-onset; bulbar, fine and gross motor ALSFRS subscale scores; respiratory impairment; functional progression rate; and time from diagnosis. The cumulative incidence of dysphagia was 18% at 3-months, 29% at 6-months, and 45% at 12-months. The mean predicted probability of dysphagia development ranged from 4.5% in the bottommost risk decile to 40% in the topmost decile at 3 months, 10%-72% at 6 months, and 25%-93% at 12 months. In the validation cohort, the model had good discrimination and calibration with an optimism corrected c-statistic of 0.70 and calibration slope of 0.96. Conclusions: The ALS dysphagia risk score can be used to identify patients with ALS at high risk for self-reported dysphagia development who would benefit from a comprehensive swallowing assessment and proactive dysphagia management strategies.

Speech and swallowing deficits in X-Linked Dystonia-Parkinsonism.

INTRODUCTION: X-linked Dystonia-Parkinsonism (XDP) is a progressive, disabling disease characterized by the devastating impairment of bulbar function, including speech and swallowing. Despite these detrimental impacts, bulbar impairments in this population are not well characterized. OBJECTIVES: To identify impairments in the bulbar system measured by oromotor performance in individuals with XDP relative to healthy controls. Secondarily, to detect diagnostic bulbar markers that are sensitive and specific to the initial years of XDP. METHODS: This case-control study included 25 healthy controls and 30 participants with XDP, divided into two subgroups based on the median of their disease length. Multiple clinical and instrumental oromotor tasks and measures were used to evaluate bulbar motor function. RESULTS: Differences were found between both the subgroups with XDP and healthy controls on almost all measures, including maximum performance tasks such as tongue strength, alternating motion rate (AMR), and sequential motion rate (SMR) (p < 0.05). Differences were found between the XDP subgroups and the control group for the percentage of pause time during the speech, a rating of speech severity, and a swallowing task (ps < 0.05). Scores on self-reported questionnaires, tongue strength, the number of repetitions produced during an AMR, percent pause, and speech severity demonstrated good sensitivity and specificity to differentiate the initial years of XDP onset from healthy controls. CONCLUSIONS: Our findings revealed impairments across bulbar functions in participants within the first 7 years of the XDP onset. Highly sensitive and specific bulbar impairment measures were detected in instrumental and self-reported measures that are fundamental for monitoring disease.

The cumulative incidence of dysphagia and dysphagia-free survival in persons diagnosed with amyotrophic lateral sclerosis.

INTRODUCTION/AIMS: Dysphagia worsens mortality and quality of life for persons diagnosed with amyotrophic lateral sclerosis (ALS), yet our understanding of its incidence and timing remains limited. In this study we sought to estimate dysphagia incidence and dysphagia-free survival over time. METHODS: Using data from the Pooled Resource Open-Access ALS Clinical Trials Database, we compared characteristics of persons with and without dysphagia upon study entry. To account for competing mortality risk, we used Kaplan-Meier curves to estimate the cumulative incidence of dysphagia and the median number of days until the development of dysphagia or death in those without dysphagia at study entry. RESULTS: Patients with dysphagia upon study entry were more likely to have bulbar onset and had faster rates of functional decline and shorter diagnostic delays. The cumulative incidence of new-onset dysphagia was 44% at 1 year and 64% at 2 years after trial enrollment for those with spinal onset, and 85% and 92% for those with bulbar onset. The median duration of dysphagia-free survival after trial enrollment was 11.5 months for those with spinal onset and 3.2 months for those with bulbar onset. DISCUSSION: Our findings underscore the high risk for dysphagia development and support the need for early dysphagia referral and evaluation to minimize the risk of serious dysphagia-related complications.

Biomechanical Biomarkers of Tongue Impairment During Swallowing in Persons Diagnosed with Amyotrophic Lateral Sclerosis.

BACKGROUND: The impact of tongue dysfunction on deglutition in persons diagnosed with amyotrophic lateral sclerosis (ALS) is not well understood. This information is needed to improve our understanding of the mechanisms of swallowing impairment, for identifying risk factors of dysphagia, and for establishing impairment-specific treatments aimed at slowing the loss of swallow function. OBJECTIVES: The goals of this study were to determine the relation between biomechanical measures of oral tongue movements using electromagnetic articulography (EMA) and measures of swallow physiology, swallow safety and efficiency, and self-reported swallowing function. METHODS: Participants were diagnosed with ALS by a neurologist following the El Escorial Criteria from the World Federation of Neurology. Twelve participants underwent (1) EMA to derive biomechanical measures of the tongue, (2) videofluoroscopic evaluation to measure swallow physiology, safety, and efficiency, and (3) maximal tongue strength testing using the Iowa Oral Pressure Instrument (IOPI). Participants completed self-reported functional assessments. Spearman's rank correlations assessed for associations between lingual biomechanics and swallowing physiology, swallow safety and efficiency, and self-reported bulbar function. RESULTS: Results demonstrated strong associations between biomechanical and swallowing physiology, swallow safety, and self-reported measures. Notably, swallowing safety during thin liquid intake was associated with tongue speed (r = - 0.7, p < 0.05) and range of motion (r = - 0.71, p < 0.05), and swallowing safety during puree intake was associated with tongue strength (r = - 0.69, p < 0.05). CONCLUSIONS: Our findings underscore the importance of tongue movements on swallowing physiology and safety, help improve our understanding of mechanisms of swallowing impairment, and highlight a potential clinical tool to index bulbar impairment.

Neuromotor Speech Recovery Across Different Behavioral Speech Modifications in Individuals Following Facial Transplantation.

Despite signs of facial nerve recovery within a few months following face transplantation, speech deficits persist for years. Behavioral speech modifications (e.g., slower-than-normal speaking rate and increased loudness) have shown promising potential to enhance speech intelligibility in populations with dysarthric speech. However, such evidence-based practice approach is lacking in clinical management of speech in individuals with facial transplantation. Because facial transplantation involves complex craniofacial reconstruction and facial nerve coaptation, it is unknown to what extent individuals with face transplant are capable of adapting their motor system to task-specific articulatory demands. The purpose of this study was to identify the underlying articulatory mechanisms employed by individuals with face transplantation in response to speech modification cues at early and late stages of neuromotor recovery. In addition, we aimed to identify speech modifications that conferred improved speech clarity. Participants were seven individuals who underwent full or partial facial vascularized composite allografts that included lips and muscles of facial animation and were in early (~2 months) or late (~42 months) stages of recovery. Participants produced repetitions of the sentence "Buy Bobby a puppy" in normal, fast, loud, and slow speech modifications. Articulatory movement traces were recorded using a 3D optical motion capture system. Kinematic measures of average speed (mm/s) and range of movement (mm3) were extracted from the lower lip (± jaw) marker. Two speech language pathologists rated speech clarity for each speaker using a visual analog scale (VAS) approach. Results demonstrated that facial motor capacity increased from early to late stages of recovery. While individuals in the early group exhibited restricted capabilities to adjust their motor system based on the articulatory demands of each speech modification, individuals in the late group demonstrated faster speed and larger-than-normal range of movement for loud speech, and slower speed and larger-than-normal range of movement for slow speech. In addition, subjects in both groups showed overreliance on jaw rather than lip articulatory function across all speech modifications, perhaps as a compensatory strategy to optimize articulatory stability and maximize speech function. Finally, improved speech clarity was associated with loud speech in both stages of recovery.

Lingual and Jaw Kinematic Abnormalities Precede Speech and Swallowing Impairments in ALS.

Early identification of bulbar involvement in persons with ALS is critical for improving diagnosis and prognosis; however, efficacious diagnostic markers have not yet been identified. The purpose of this study was to determine whether kinematic changes of the tongue and jaw during swallowing, measured using 3D electromagnetic articulography (EMA), predate clinically identifiable symptoms of speech and swallowing impairment in persons diagnosed with ALS. Data were collected from 16 adults diagnosed with ALS and 18 neurotypical controls. Groups were aged matched. Eligible participants with ALS were tolerating an unrestricted diet (FOIS = 7), produced intelligible speech (> 97%), and had a speaking rate greater than 150 words per minute. Participants completed a 3-mL water swallow task, during which EMA recorded kinematic measures of the anterior and posterior regions of tongue including lingual speed, range of motion, duration, coordination, and efficiency. Jaw speed and range of motion were also recorded. Persons diagnosed with ALS demonstrated reduced posterior lingual range of motion (11.40 mm ± 4.01 vs. 16.07 mm ± 5.27), slower posterior lingual speeds (83.67 mm/s ± 47.96 vs. 141.35 mm/s ± 66.54), increased lingual movement duration (13.46 s ± 6.75 vs. 9.21 s ± 3.28), and reduced lingual coordination (0.04 s ± 0.11 vs. 17 s ± 0.19) during the 3-oz water swallow task compared to controls. Persons diagnosed with ALS demonstrated increased range of motion (9.86 mm ± 5.38 vs. 6 mm ± 3.78) and increased jaw speed (68.62 mm/s ± 50.13 vs. 34.72 mm/s ± 17.75) during swallowing compared to controls. The current findings suggest that changes in lingual and jaw motor performance during a simple water swallow task are present in persons with ALS who are pre-symptomatic of clinically detectable bulbar impairment.

The Effects of Lip-Closure Exercise on Lip Strength and Function Following Full Facial Transplantation: A Case Report.

PURPOSE: Facial transplantation is a relatively new option for individuals with severe facial disfigurements. Clinical case studies on existing patients indicate many instances of persistent facial motor impairment for facial expression, speech, and swallowing. These preliminary findings motivate additional research on the impact of lip-strengthening exercises following facial transplantation. METHOD: In this study, we assessed the efficacy of an 8-week, biofeedback-driven, lip closure-strengthening exercise program in a single patient 1-year status post-full facial transplantation. Exercise was at 60% of peak strength. Outcome measures included instrumental measures of lip strength and mobility, clinical measures of speech, and patient-reported outcomes in feeding and facial expression. RESULTS: Results revealed improvements in labial strength, speed of lip movement, and range of motion during speech. A 3-point improvement in sentence speech intelligibility was also observed following strength-training exercise. The patient reported improvements in her ability to drink from a straw and communicate via facial expression. CONCLUSION: These preliminary findings motivate additional research on the efficacy of lip-strengthening exercises following facial transplantation.

The role of face transplantation in the self-inflicted gunshot wound.

BACKGROUND: Facial self-inflicted gunshot wounds (SIGSWs) cause a devastating midfacial defect and pose a challenging problem to the reconstructive surgeon. Face transplantation (FT) has the potential for near-normal restoration in otherwise non-reconstructible defects. Two out of 7 FT recipients at Brigham and Women's Hospital (BWH) sustained SIGSWs. In this study, we illustrate the role of FT in the management of SIGSWs through an aesthetic, functional, and psychosocial examination of outcomes. METHODS: We performed a retrospective analysis of individuals with SIGSWs who were screened at BWH between 2008 and 2015. We then collected data of the injuries, modes of conventional reconstruction (CR), and deficits. For the FT recipients, we critically reviewed the psychosocial screening process and post-transplantation aesthetic, functional, and psychosocial outcomes. RESULTS: A total of six individuals post-SIGSWs were screened for FT. All of them had undergone CR, with five receiving loco-regional flaps and free tissue transfers, and one undergoing serial debridement and primary soft-tissue repair. Following CR, all suffered from residual functional and aesthetic deficits. Two underwent partial FT and one is currently undergoing FT screening. We describe the pre-transplant psychosocial screening process and the aesthetic, functional, and psychosocial outcomes of the SIGSW FT recipients. CONCLUSIONS: We examined the facial SIGSW injury, outcomes of CR, and the mechanism of FT to offer a potential solution to the shortcomings of CR. More importantly, we highlight the critical nature of the psychosocial component of the multidisciplinary evaluation given the history of mental illness and suicidal behavior in this subset of patients.