Speech Impairment Research Articles

Nonnormative Communication and Metaphors of Silencing in Two Postcolonial Texts

Brian Friel’s Translations and Aminatta Forna’s Ancestor Stones both use a character with a speech impairment as a metaphorical representation of silencing and its limits under colonialism. When read purely as metaphors, as in the extensive body of criticism on Friel’s play, these characters offer competing visions of what is lost and what is not when precolonial cultures and languages are suppressed. However, a purely metaphorical reading reinforces both the broad tendency to use disability to represent other forms of oppression and the specific tendency to use communication disabilities to represent the supposed silencing of marginalized people, both of which reaffirm ableist conceptions of disability as deficiency and pull our attention away from the individuality of the disabled characters. A closer reading of each text shows the flaws in a strictly metaphorical reading, as both characters complicate the idea that their inability to vocalize is a form of silence, as they demonstrate that people with communication disabilities can have much to tell people and many ways of doing so. This poses a challenge to the overreliance on voice and voicelessness as metaphors in discussions of marginalization.

Predictors of school attendance among children with cerebral palsy in Bangladesh.

To determine school attendance and its predictors among children with cerebral palsy (CP) in Bangladesh using population-based data. This study utilized data from the Bangladesh Cerebral Palsy Register (BCPR), a population-based register of children with CP aged less than 18 years in Bangladesh. Sociodemographic, clinical, and educational data were documented, and descriptive statistics and multivariate regression analyses were used to identify potential predictors of school attendance. Between January 2015 and January 2019, 2725 children with CP were registered into BCPR of which 1582 were school-aged children (i.e. aged 6-18 years). The majority of those children had not attended school (73.9%); 50% (n = 239) children in Gross Motor Function Classification System (GMFCS) levels I to II did not attend schools. Adjusted odds ratios (OR) showed significantly higher odds of school attendance among children whose mothers had completed secondary education or higher (adjusted OR: 2.2; 95% confidence interval [CI]: 1.2-4.0) and received rehabilitation (adjusted OR: 2.1; 95% CI: 1.4-3.1). Conversely, lower odds of school attendance were observed among children aged 15 to 18 years (adjusted OR: 0.4; 95% CI: 0.2-0.8), those with bilateral CP (adjusted OR: 0.5; 95% CI: 0.3-0.8), GMFCS levels III to V (adjusted OR: 0.3; 95% CI: 0.2-0.5), Manual Ability Classification System levels III to V (adjusted OR: 0.5; 95% CI: 0.4-0.8), and speech impairment (adjusted OR: 0.3; 95% CI: 0.2-0.6). A large number of children with CP in Bangladesh, including half of those with milder forms, do not attend schools. These findings underscore a deficiency in awareness and support, encompassing the provision of resources and trained teachers, highlighting the necessity for policy-level changes. Sociodemographic and clinical predictors should be taken into account when devising educational programmes to enhance school attendance for children with CP in Bangladesh.

Surgical Considerations in Treating Central Nervous System Lymphomas: A Case Series of 11 Patients

In this retrospective unicentric study, we analyzed the medical records of 11 patients who were surgically treated for CNS lymphoma, both primary and secondary, between 2009 and 2024. Given the rarity of CNS lymphomas and their diverse signs and symptoms based on tumoral location, our aim was to describe key aspects, such as clinical presentations and surgical management. A possible relationship between obesity and CNS lymphoma progression was investigated through an analysis of previous study findings. The literature suggests a wide spectrum of manifestations, from nausea and headaches to loss of equilibrium and speech impairment. A predominance of unsystematized balance disorders and epileptic seizures were affirmed. Notably, as emerged from our study, aphasia was a particularly interesting neurological symptom due to its rarity in the clinical features of CNSL. Other significant factors, such as tumor localization and perioperative phases, were thoroughly investigated, with the latter highlighted by an illustrative case report. Additionally, a literature review was included, comprising nine recent retrospective studies on the efficacy of surgical resection for patients diagnosed with PCNSL.

Clinical characteristics and prognosis of brain metastasis in locally advanced rectal cancer

Objective: To investigate the clinical characteristics of brain metastases after radical surgery for locally advanced rectal cancer (LARC). Methods: The clinical characteristics of LARC with brain metastases treated in the Department of General Surgery, Peking Union Medical College Hospital from 2013 to 2023 were retrospectively analyzed. The inclusion criteria were rectal adenocarcinoma within 15 cm of the anal verge and having undergone radical surgery, and the exclusion criterion was primary malignant tumor of the brain. The main outcomes were overall survival (OS), disease-free survival (DFS), and disease-specific overall survival (determined as the interval between occurrence of brain metastasis to death from any causes). The Kaplan-Meier method was used for survival analysis. Results: We identified 4500 patients with LARC, 20 (0.4%) of whom had brain metastases. The mean age of patients with brain metastases was 63.8±9.3 years. They comprised five women and 15 men. The brain was the first site of metastasis in four patients (20%) whereas 18 patients had heterochronous extracranial metastases before brain metastasis. Two patients also had multi-organ metastases. The most common manifestations of brain metastases were dizziness and headache (five patients, 25%), sudden onset of limb weakness (four, 20%), sudden speech impairment (two, 10%), and polyopia (two, 10%). The metastases were diagnosed during follow-up in three patients (15%). Four of the patients were asymptomatic (20%). Treatment approaches included surgical resection (six patients, 30%), chemoradiotherapy (nine, 45%), and palliative (five, 25%). The median follow-up time was 45.5 (4-112) months until October 2023. 1y-OS, 3y-OS, and 5y-OS were 95.0%, 62.9%, and 43.3%, respectively. 1y-DFS, 3y-DFS, and 5y-DFS were 55.0%, 25.0%, and 5.0%, respectively. With brain metastasis as the starting point, the median duration of survival was 16 (10.2-21.8) months. Conclusion: The incidence of brain metastasis is relatively low in patients with LARC, who often have multiple synchronous extracranial metastases. Brain metastases lack specific manifestations and more often occur in male patients. Surgical intervention or combined radiotherapy and chemotherapy may improve disease-specific survival to a certain extent. However, the overall prognosis remains poor.

Impact of age-related hearing loss on decompensation of left DLPFC during speech perception in noise: a combined EEG-fNIRS study.

Understanding speech-in-noise is a significant challenge for individuals with age-related hearing loss (ARHL). Evidence suggests that increased activity in the frontal cortex compensates for impaired speech perception in healthy aging older adults. However, whether older adults with ARHL still show preserved compensatory function and the specific neural regulatory mechanisms underlying such compensation remains largely unclear. Here, by utilizing a synchronized EEG-fNIRS test, we investigated the neural oscillatory characteristics of the theta band and synchronous hemodynamic changes in the frontal cortex during a speech recognition task in noise. The study included healthy older adults (n = 26, aged 65.4 ± 2.8), those with mild hearing loss (n = 26, aged 66.3 ± 3.8), and those with moderate to severe hearing loss (n = 26, aged 67.5 ± 3.7). Results showed that, relative to healthy older adults, older adults with ARHL exhibited lower activation and weakened theta band neural oscillations in the left dorsolateral prefrontal cortex (DLPFC) under noisy conditions, and this decreased activity correlated with high-frequency hearing loss. Meanwhile, we found that the connectivity of the frontoparietal network was significantly reduced, which might depress the top-down articulatory prediction function affecting speech recognition performance in ARHL older adults. The results suggested that healthy aging older adults might exhibit compensatory attentional resource recruitment through a top-down auditory-motor integration mechanism. In comparison, older adults with ARHL reflected decompensation of the left DLPFC involving the frontoparietal integration network during speech recognition tasks in noise.

Deep Learning-Driven Sign Language Recognition: A Multimodal Approach for Gesture-to-Text Translation Using CNN-RNN Architectures

Sign language serves as a vital communication tool for individuals with hearing and speech impairments. However, a significant barrier exists when others do not possess a strong understanding of sign language often requiring interpreters to facilitate communication. To reduce the reliance on human interpreters, this research aims to develop an intelligent system capable of recognizing and translating sign language gestures into meaningful grammatically correct sentences. The proposed system processes both images and videos to interpret gestures, converting them into text that can be translated into any desired language. The system leverages state-of-the-art deep learning techniques, such as Convolutional Neural Networks (CNNs) for identifying key features in images and Recurrent Neural Networks (RNNs) for understanding temporal sequences in video data. By employing these advanced neural networks, the model is able to comprehend hand movements, facial expressions and other non-verbal cues to construct coherent sentences. Additionally, the system integrates natural language processing (NLP) to refine the output, ensuring the resulting sentences are grammatically correct. Our approach addresses common challenges such as differentiating between subtle hand gestures and reducing the impact of environmental noise in images. This solution holds the potential to significantly enhance communication for the hearing and speech impairedffering an efficient interpreter-free method of translating sign language into widely spoken languages

Pregnancy and delivery after functional hemispherectomy for Rasmussen’s encephalitis: a case report

BackgroundRasmussen’s encephalitis (RE) is a rare neurologic disorder characterized by progressive seizures and unilateral cerebral atrophy with onset during childhood and unknown etiology. When medical therapy appears refractory, surgical disconnection of the affected hemisphere is indicated. Quality of life after functional hemispherectomy is largely good, affected females may therefore pursue pregnancy. However, data on pregnancy and delivery in RE post hemispherectomy is extremely rare.Case presentationWe present the case of a patient with left functional hemispherectomy for RE at the age of seven, who experienced two successful pregnancies. In both pregnancies, her post-surgical symptoms including right-sided spasticity, cephalgia, dizziness, and impairment of vision and speech deteriorated but improved to pre-pregnancy level after delivery. Neurologic sequelae post-hemispherectomy overlapped with clinical signs of preeclampsia and required close diagnostic surveillance during both pregnancies.ConclusionThere are no data on the interaction between RE, hemispherectomy and pregnancy, making maternal and fetal risk assessment difficult. Due to the complexity of the condition and symptoms, management of RE in pregnancy remains highly challenging and requires an interdisciplinary approach. This is the first case description of two successful pregnancies in a woman with RE and status post-hemispherectomy. Further evidence is urgently required to improve counseling and management of affected women.

Smokeless Tobacco: A Comprehensive Review of Molecular Effects, Societal Perception, and Cessation Strategies

Smokeless tobacco (ST) is an alternative to smoking, which involves not the burning of tobacco. Although ST has been used for thousands of years, its health effects are not well characterized, and it is the subject of misconceptions throughout society. Therefore, it is crucial to identify the risks associated with ST use. We conducted a comprehensive search of the scientific literature to identify studies reporting associations between tobacco chewing and the risk of oral cancer and premalignant lesions. Our review discusses the molecular mechanisms associated with ST components, along with the role of ST use in speech impairment and cancer progression. We also examine the effectiveness of tobacco cessation strategies and review the existing perceptions held by ST consumers. Our findings indicate significant health risks associated with ST use, including increased cancer risk and speech impairments. As societal perceptions and misconceptions about ST are important factors that influence its use, there is a need for comprehensive public awareness campaigns to correct these misconceptions and to promote healthier lifestyle choices. We call for further research to improve cessation interventions and to increase public awareness of relevant research discoveries. By providing a thorough discussion of the health impacts of ST, we aim to inform policy decisions and public health strategies to reduce the prevalence of ST use.

Live Survival Strategy to Grow Entrepreneurial Interest in the Perspective of Maqashid Asy-Syari'ah (On Deaf-Mute Disabilities UPT RSBRW - Pasuruan)

Difficulties for people with hearing and speech impairments in accessing formal employment because companies only open and look for workers in the physically & mentally healthy category, to increase productivity & effectiveness of employee performance. While getting a job is very important & fundamental for sustainability & continuity. One of the problems faced by people with hearing impairments is how to develop skills & knowledge according to their talents and interests, so that they are able to move independently in fulfilling and prospering their needs & desires without depending on the informal sector.This research is descriptive research with a qualitative approach. The researcher will describe survival strategies to foster interest in entrepreneurship for people with hearing and speech impairments according to field conditions with the aim of finding a comprehensive survival strategy formulation. From the results of data analysis in the field, it is clear that the concept of success in the presence of limitations / impairments is that there are 3 types of survival strategies used by people with hearing and speech impairments, namely: active strategy (having, independence, confidence, enthusiasm, optimism, perseverance), passive strategy (making savings in meeting needs: dharuriyat, hajiyat, tahsiniyat, and implementing rational consumption patterns/ mustahlik al-aqlani), network strategy (using available accessibility & building relationships with related agencies).

Auditory and vestibular function in mitochondrial patients harbouring the m.3243A>G variant

Abstract Hearing impairment is a frequent clinical feature in patients with mitochondrial disease harbouring the pathogenic variant, m.3243A>G. However, auditory neural dysfunction, its perceptual consequences, as well as implications for patient management are not established. Similarly, the association with vestibular impairment has not yet been explored. This case-control study investigated in 12 adults with genetically confirmed m.3243A>G adults (nine females; 45.5±16.3 years [range 18–66]; 47.1±21.5dB hearing level, dB) compared to 12 age, sex, and hearing level matched controls with sensory (cochlear-level) hearing loss (nine females; 46.6±11.8 years [range 23–59]; 47.7±25.4 hearing level, dB). Participants underwent a battery of electro-acoustic, electrophysiologic and perceptual tests which included: pure tone audiometry, otoacoustic emissions, auditory brainstem responses, auditory temporal processing measures, monaural/binaural speech perception, balance and vestibular testing, and self-reported questionnaires (dizziness, hearing disability). Our findings showed evidence of auditory neural abnormality and perceptual deficits greater than expected for cochlear pathology. Compared with matched controls with sensory hearing loss, adults with mitochondrial disease harbouring m.3243A>G had abnormal electrophysiologic responses from the VIIIth nerve and auditory brainstem (P = 0.005), an impaired capacity to encode rapidly occurring acoustic signal changes (P = 0.005), a reduced ability to localise sound sources (P = 0.028) and impaired speech perception in background noise (P = 0.008). Additionally, vestibular dysfunction (P = 0.011), greater perceived dizziness (P = 0.001) and reduced stance time (balance) (P=0.009) were also seen in participants with m.3243A>G mitochondrial disease when compared to matched counterparts. This pilot study revealed that auditory evaluation, including evoked potential responses from the auditory nerve/brainstem and speech perception in noise tests should form an important part of the management for individuals with m.3243A>G-related mitochondrial disease. Those presenting with hearing impairment and symptoms concerning balance and dizziness should undergo vestibular testing and appropriate management.

Clinical characteristics and impairment of activities of daily living among patients with myasthenia gravis with differing degrees of muscle weakness: a real-world study of patients in the US and five European countries

BackgroundReal-world data were employed to determine clinical characteristics of patients with myasthenia gravis (MG) with differing degrees of muscle weakness, as defined using the Myasthenia Gravis Foundation of America (MGFA) classification system.MethodsData were drawn from the Adelphi MG Disease Specific Programme (DSP)™, a multinational (United States, France, Germany, Italy, Spain, United Kingdom) survey completed by physicians and their patients with MG in 2020. The association between MGFA class and impairment in activities of daily living (ADL) was tested using linear regression adjusting for sex and Charlson Comorbidity Index. Bivariate comparisons were performed for each individual item. A range of other clinical characteristics were also explored according to MGFA class.ResultsAmong 1232 patients, those in MGFA class I had significantly lower ADL impairment versus class II or III/IV (adjusted for sex and Charlson Comorbidity Index) (p < 0.01). However, heterogeneity occurred within each MGFA class. Bulbar symptoms (impaired speech, difficulty swallowing, and/or difficulty chewing/choking on food) were reported in some class I patients (mild in 1.1–1.9% and moderate in 0.3–1.1% of patients) and class II patients (mild in 8.5–16.4%, moderate in 4.7–7.4%, and severe in 0.3–0.9% of patients), and shortness of breath was reported in some class I (mild in 0.5% of patients) and class II patients (mild in 9.8%, moderate in 4.8%, and severe in 0.3% of patients). Conversely, in 11.2–19.2% of class III/IV patients, bulbar symptoms and shortness of breath reported were only mild in severity. In line with this finding, despite significant correlations between MGFA class and several clinical characteristics, patients across every class were at risk of experiencing myasthenic crisis or hospitalization, experiencing comorbidities including anxiety and depression, and not being in remission.ConclusionsAlthough MGFA class correlates with greater ADL impairment and presence of other clinical characteristics, there is variability between patients in each class in terms of symptoms experienced, overall disease burden, and the precise nature of ADL impairment.

Associated impairments among children with cerebral palsy: findings from a cross-sectional hospital-based study in Vietnam

ObjectiveThis study aims to explore the associated impairments of cerebral palsy (CP) and their correlates among children with CP in Vietnam.DesignDescriptive cross-sectional study using hospital-based surveillance.SettingNational Children’s Hospital, Hanoi, Vietnam...

A lightweight network-based sign language robot with facial mirroring and speech system

Human–robot interaction is an essential capability for humanoid robots to enter the physical world and become companions in people’s lives, learning, and work. While the majority of current research focuses on the voice-based interactions of robots, yet over 60% of communication occurs through nonverbal behaviors, such as facial expressions and hand gestures. Endowing robots with the ability to communicate through nonverbal behavior not only enhances the interactive experience with robots but also provides a potential communication tool for individuals with hearing or speech impairments. Here, we develop a humanoid robot capable of adjusting facial movements by driving servos, and design a novel framework for the robot to integrate sign language recognition and facial landmark detection algorithms. This framework facilitates the robot recognize sign language and translate it into spoken language, while also imitating the facial expressions of the signers. To achieve this, we also propose a lightweight deep learning network called RealTimeSignNet for real-time sign language recognition. Leveraging lightweight 3D convolution modules and time-dependent constraints, this model adapts to various time scales, ensuring efficient processing of sign language recognition tasks. Experimental results demonstrate the outstanding performance of the RealTimeSignNet model on mainstream sign language datasets, achieving an accuracy of 88.1% on the large continuous sign language dataset (continuous SLR), 98.2% on the isolated sign language dataset (SLR 500), and 91.50% on the English sign language dataset (WLAS). The overall assessment demonstrates that our humanoid robot is capable of recognizing sign language and translating it into spoken language, while imitating the facial emotions, providing a comprehensive solution to the communication challenges faced by individuals with hearing and speech impairments.

Speech motor impairment in ALS is associated with multiregional cortical thinning beyond primary motor cortex.

Cortical thinning is well-documented in individuals with amyotrophic lateral sclerosis (ALS), yet its association with speech deterioration remains understudied. This study characterizes anatomical changes in the brain within the context of speech impairment patterns in individuals with ALS, providing insight into the disease's multiregional spread and biology. To evaluate patterns of cortical thickness in speakers with ALS with and without functional speech changes compared to healthy controls (HCs) using whole-brain and region of interest (ROI) analyses. Forty individuals with ALS and 22 HCs underwent a T1-weighted 3-Tesla magnetic resonance imaging (MRI). Individuals with ALS were divided into two groups based on the preserved speech [ps-ALS] (n = 18) or deteriorated speech [ds-ALS] (n = 22) as measured by the ALSFRSF-R speech subscore (=4 or <4 points, respectively). Sixteen a priori-defined and automatically segmented cortical and subcortical brain ROIs were selected based on their previously documented roles in speech production. Two cortical thickness analyses were performed: (1) group-level whole-brain surface-based analyses and (2) group-level ROI analyses. A case study of 6 ALS individuals examined the cortical thickness, and their speech was characterized using quantitative and qualitative measures. Based on the group-level whole-brain surface-based analyses, the ds-ALS group demonstrated significant cortical thinning compared to HCs in the left primary motor and somatosensory cortices and the right inferior parietal lobe with its adjacent lateral occipital cortical regions. The ps-ALS group demonstrated no significant cortical thinning compared to HCs. Based on the group-level ROI analyses, the ds-ALS group demonstrated significant cortical thinning compared to HCs in bilateral middle motor cortices, right posterior dorsal premotor cortex, and left anterior cingulate cortex. The case study analysis revealed that ALS speakers with speech features characteristic of spastic dysarthria exhibited cortical thinning, while those with speech features characteristic of flaccid dysarthria did not. Individuals with ALS have anatomical changes involving multiregional neocortical areas beyond the primary motor cortex that may manifest as subjective (i.e., clinical judgment) and objective (i.e., speaking rate) changes in speech production. Further longitudinal work in ALS is needed to better understand the link between MRI cortical thickness changes and bulbar dysfunction.

Impact of pre-stroke cognitive decline on rehabilitation effectiveness and cognitive-functional status of patients in the acute period of ischemic stroke

Summary. The aim was to assess the influence of premorbid cognitive deficit on the effectiveness of rehabilitation using VR technologies and cognitive-functional status of patients in the acute period of ischemic stroke based on statistical methodology. Materials and methods: 120 patients diagnosed with ischemic stroke were examined. The IQCODE questionnaire was used to identify the patient’s cognitive decline before and the Pandas and SciPy libraries. Results: all patients had a multifunctional type of cognitive impairment with a predominant decline in the areas of executive function, memory, speech and perception. Patients of the 2nd group had a more pronounced deficit in the areas of constructive praxis, episodic memory, semantic information processing and perception. Assessment of the dynamics of cognitive impairment during therapy revealed a significant improvement in memory loss (p=0, 0034), executive dysfunction (p&lt;0.0001) and attention impairment (p=0.0001) in patients of 1st group and regression cognitive deficit in almost all cognitive areas in patients of 2nd group. Factors impeding rehabilitation in 1st group of patients were attention (r = -0,325) and perceptual disorders (r = -0,425); in 2nd group: semantic aphasia (r = -0,425), constructive apraxia (r = -0,325), speech impairment (r = — 0,375), object agnosia (r = -0,323) and IQCODE (r = -0,395). Conclusion: pre-stroke cognitive impairments are predictors of the development and progression of post-stroke cognitive deficits and reduce the possibilities of rehabilitation and cognitive recovery. The introduction of IQCODE in the diagnosis of cognitive dysfunction in the acute period of ischemic stroke is a useful tool in predicting the course and development of cognitive deficit and studying the prospects of rehabilitation programmes using VR technologies in patients with pre-stroke cognitive impairment.

The effect of two speech and language approaches on speech problems in people with Parkinson's disease: the PD COMM RCT.

Speech impairments are common with Parkinson's disease (reported prevalence 68%), increasing conversational demands, reliance on family and social withdrawal. The PD COMM trial compared the clinical and cost-effectiveness of two speech and language therapy approaches: Lee Silverman Voice Treatment LOUD and National Health Service speech and language therapy for the treatment of speech or voice problems in people with Parkinson's disease to no speech and language therapy (control) and against each other. PD COMM is a phase III, multicentre, three-arm, unblinded, randomised controlled trial. Participants were randomised in a 1 : 1 : 1 ratio to control, National Health Service speech and language therapy or Lee Silverman Voice Treatment LOUD via a central computer-generated programme, using a minimisation procedure with a random element, to ensure allocation concealment. Mixed-methods process and health economic evaluations were conducted. United Kingdom outpatient and home settings. People with idiopathic Parkinson's disease, with self-reported or carer-reported speech or voice problems. We excluded people with dementia, laryngeal pathology and those within 24 months of previous speech and language therapy. The Lee Silverman Voice Treatment LOUD intervention included maximum effort drills and high-effort speech production tasks delivered over four 50-minute therapist-led personalised sessions per week, for 4 weeks with prescribed daily home practice. National Health Service speech and language therapy content and dosage reflected local non-Lee Silverman Voice Treatment speech and language therapy practices, usually 1 hour, once weekly, for 6 weeks. Trained, experienced speech and language therapists or assistants provided interventions. The control was no speech and language therapy until the trial was completed. Primary outcome: Voice Handicap Index total score at 3 months. Secondary outcomes: Voice Handicap Index subscales, Parkinson's Disease Questionnaire-39; Questionnaire on Acquired Speech Disorders; EuroQol-5D-5L; ICEpop Capabilities Measure for Older Adults; Parkinson's Disease Questionnaire - Carers; resource utilisation; and adverse events. Assessments were completed pre-randomisation and at 3, 6 and 12 months post randomisation. Three hundred and eighty-eight participants were randomised to Lee Silverman Voice Treatment LOUD (n = 130), National Health Service speech and language therapy (n = 129) and control (n = 129). The impact of voice problems at 3 months after randomisation was lower for Lee Silverman Voice Treatment LOUD participants than control [-8.0 (99% confidence interval: -13.3, -2.6); p = 0.001]. There was no evidence of improvement for those with access to National Health Service speech and language therapy when compared to control [1.7 (99% confidence interval: -3.8, 7.1); p = 0.4]. Participants randomised to Lee Silverman Voice Treatment LOUD reported a lower impact of their voice problems than participants randomised to National Health Service speech and language therapy [99% confidence interval: -9.6 (-14.9, -4.4); p < 0.0001]. There were no reports of serious adverse events. Staff were confident with the trial interventions; a range of patient and therapist enablers of implementing Lee Silverman Voice Treatment LOUD were identified. The economic evaluation results suggested Lee Silverman Voice Treatment LOUD was more expensive and more effective than control or National Health Service speech and language therapy but was not cost-effective with incremental cost-effectiveness ratios of £197,772 per quality-adjusted life-year gained and £77,017 per quality-adjusted life-year gained, respectively. The number of participants recruited to the trial did not meet the pre-specified power. People that had access to Lee Silverman Voice Treatment LOUD described a significantly greater reduction in the impact of their Parkinson's disease-related speech problems 3 months after randomisation compared to people that had no speech and language therapy. There was no evidence of a difference between National Health Service speech and language therapy and those that received no speech and language therapy. Lee Silverman Voice Treatment LOUD resulted in a significantly lower impact of voice problems compared to National Health Service speech and language therapy 3 months after randomisation which was still present after 12 months; however, Lee Silverman Voice Treatment LOUD was not found to be cost-effective. Implementing Lee Silverman Voice Treatment LOUD in the National Health Service and identifying alternatives to Lee Silverman Voice Treatment LOUD for those who cannot tolerate it. Investigation of less costly alternative options for Lee Silverman Voice Treatment delivery require investigation, with economic evaluation using a preference-based outcome measure that captures improvement in communication. This study is registered as ISRCTN12421382. This award was funded by the National Institute for Health and Care Research (NIHR) Health Technology Assessment programme (NIHR award ref: 10/135/02) and is published in full in Health Technology Assessment; Vol. 28, No. 58. See the NIHR Funding and Awards website for further award information.

Development and Validation of SCACOMS, a Composite Scale for Assessing Disease Progression and Treatment Effects in Spinocerebellar Ataxia.

Spinocerebellar ataxias (SCA) are rare inherited neurodegenerative disorders characterized by a progressive impairment of gait, balance, limb coordination, and speech. There is currently no composite scale that includes multiple aspects of the SCA experience to assess disease progression and treatment effects. Applying the method of partial least squares (PLS) regression, we developed the Spinocerebellar Ataxia Composite Scale (SCACOMS) from two SCA natural history datasets (NCT01060371, NCT02440763). PLS regression selected items based on their ability to detect clinical decline, with optimized weights based on the item's degree of progression. Following model validation, SCACOMS was leveraged to examine disease progression and treatment effects in a 48-week SCA clinical trial cohort (NCT03701399). Items from the Clinical Global Impression-Global Improvement Scale (CGI-I), the Friedreich Ataxia Rating Scale (FARS) - functional stage, and the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) were objectively selected with weightings based on their sensitivity to clinical decline. The resulting SCACOMS exhibited improved sensitivity to disease progression and greater treatment effects (compared to the original scales from which they were derived) in a 48-week clinical trial of a novel therapeutic agent. The trial analyses also provided a SCACOMS-derived estimate of the temporal delay in SCA disease progression. SCACOMS is a useful composite measure, effectively capturing disease progression and highlighting treatment effects in patients with SCA. SCACOMS will be a powerful tool in future studies given its sensitivity to clinical decline and ability to detect a meaningful clinical impact of disease-modifying treatments.

Augmenting Clinical Insights with Computing: How TalkBank has Impacted Assessment and Treatment of Speech and Language Disorders

Our purpose is to highlight the contributions of TalkBank initiatives to improved understanding of clinical impairments in adult and child speakers and examine remaining challenges and proposed solutions.We review the origins and development of TalkBank initiatives that have targeted a wide array of typical and atypical child and adult populations. In particular, we discuss how such sets of data have given rise to evaluation and validation of traditional measures used to appraise spoken language performance. The durable contributions of AphasiaBank and CHILDES archives are already evident in a body of published research that has re-evaluated, refined and reconceptualized how we evaluate and set therapeutic goals for speakers with expressive speech and language impairments. More recent archival initiatives, such as PhonBank and FluencyBank, are also making impacts. Beyond improvements in basic and applied science in communication development and disorders, archival data are also being used to test and improve accessibility for communicatively impaired speakers. TalkBank has transformed how research in communication disorders is conducted. It no longer relies on small, unshared research ventures that enable limited clinical impact or follow-up research inquiries. Rather, it has enabled large-scale, more generalizable research more likely to spur further research and enable more rapid translation to clinical practice.

Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry

BackgroundPhelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused by 22q13 deletions that include the SHANK3 gene or pathogenic sequence variants in SHANK3. It is characterized by global developmental delay, intellectual disability, speech impairment, autism spectrum disorder, and hypotonia; other variable features include epilepsy, brain and renal malformations, and mild dysmorphic features. Here, we conducted genotype-phenotype correlation analyses using the PMS International Registry, a family-driven registry that compiles clinical data in the form of family-reported outcomes and family-sourced genetic test results.MethodsData from the registry were harmonized and integrated into the i2b2/tranSMART clinical and genomics data warehouse. We gathered information from 401 individuals with 22q13 deletions including SHANK3 (n = 350, ranging in size from 10 kb to 9.1 Mb) or pathogenic or likely pathogenic SHANK3 sequence variants (n = 51), and used regression models with deletion size as a potential predictor of clinical outcomes for 328 phenotypes.ResultsOur results showed that increased deletion size was significantly associated with delay in gross and fine motor acquisitions, a spectrum of conditions related to poor muscle tone, renal malformations, mild dysmorphic features (e.g., large fleshy hands, sacral dimple, dysplastic toenails, supernumerary teeth), lymphedema, congenital heart defects, and more frequent neuroimaging abnormalities and infections. These findings indicate that genes upstream of SHANK3 also contribute to some of the manifestations of PMS in individuals with larger deletions. We also showed that self-help skills, verbal ability and a range of psychiatric diagnoses (e.g., autism, ADHD, anxiety disorder) were more common among individuals with smaller deletions and SHANK3 variants.LimitationsSome participants were tested with targeted 22q microarrays rather than genome-wide arrays, and karyotypes were unavailable in many cases, thus precluding the analysis of the effect of other copy number variants or chromosomal rearrangements on the phenotype.ConclusionsThis is the largest reported case series of individuals with PMS. Overall, we demonstrate the feasibility of using data from a family-sourced registry to conduct genotype-phenotype analyses in rare genetic disorders. We replicate and strengthen previous findings, and reveal novel associations between larger 22q13 deletions and congenital heart defects, neuroimaging abnormalities and recurrent infections.

Towards an Inclusive Village: Literacy and Education for People with Disabilities Through the Development of Grape Planting Techniques (Vitis Vinifera L) Taman Ayu Village

People with disabilities are identical to people who are disabled, weak, stupid and backward. People with disabilities are no longer seen as problematic people, by providing equal access and being inclusive for everyone in their society (168 169). Equal roles for people with disabilities are an important issue for the government. Recognition of equal rights for groups with disabilities, both in terms of education, employment opportunities and others. Community service activities carried out by Herdiana, et al. in Taman Ayu village, in 2023 became the main basis for empowering people with disabilities and knowledge for people with disabilities, especially in the equality garden by involving groups with disabilities. Taman Ayu Village, Gerung District, West Lombok Regency, West Nusa Tenggara (NTB) in the "Equality Garden" group consisting of 15 people consisting of people with hearing and speech impairments which was carried out in June-December 2024 with the community service implementation team being a collaboration of 3 fields of science, namely agribusiness, accounting and agroecotechnology and involving 3 students from different study programs (fields of science). The purpose of this activity is to provide literacy and education about grape cultivation techniques, improve grape cultivation technique skills, financial management in business through ongoing training and mentoring. The forms of activities include literacy counseling and education for people with disabilities in grape cultivation techniques (Vitis Vinifera L), business management training and financial recording management, mentoring and coaching in marketing using digital marketing (marketplace: Facebook, Shopie, Tokopedia) and mentoring in submitting business legality. The hope of this activity is that groups with disabilities have skills in the field of grape cultivation, skills in management and financial recording of businesses so that from this activity a new business can be formed so that the goal of this activity is the independence of the disabled group's business. Collaboration between the service team (academics) and the village in the form of ongoing mentoring and coaching will be carried out until they have an independent business