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10 pages, 734 KB  
Article
Electromyographic Assessment of the Extrinsic Laryngeal Muscles: Pilot and Descriptive Study of a Vocal Function Assessment Protocol
by Jéssica Ribeiro, André Araújo, Andreia S. P. Sousa and Filipa Pereira
Sensors 2025, 25(20), 6430; https://doi.org/10.3390/s25206430 - 17 Oct 2025
Viewed by 481
Abstract
Aim: The aim of this study was to develop and test a surface electromyography (sEMG) assessment protocol to characterise the activity of the extrinsic laryngeal muscles (suprahyoid and infrahyoid) during phonatory tasks and vocal techniques. Methodology: The protocol of assessment was based on [...] Read more.
Aim: The aim of this study was to develop and test a surface electromyography (sEMG) assessment protocol to characterise the activity of the extrinsic laryngeal muscles (suprahyoid and infrahyoid) during phonatory tasks and vocal techniques. Methodology: The protocol of assessment was based on electromyographic assessment guidelines and on clinical voice evaluation needs and was tested in six healthy adults with no vocal disorders. Surface electromyographic activity of suprahyoid and infrahyoid muscles was acquired during different reference tasks (rest, reading, maximum contractions) and six vocal tasks, including nasal sounds, fricatives, and semi-occluded vocal tract exercises. A laryngeal accelerometer was used for detecting the beginning and end of each exercise. The average activity during each task was normalised by the signal obtained in the incomplete swallowing task for the SHM and by the sniff technique for the IHM. Results: The range of activation values varied across tasks, with higher percentages observed in plosive production and in the “spaghetti” technique, while nasal and fricative sounds tended to show lower activation values within the group. A consistent pattern of simultaneous activation of suprahyoid and infrahyoid muscles was observed during phonation. Conclusions: The protocol proved potential for clinical application in speech–language pathology as it enabled the characterisation of muscle activity in determinant muscles for vocal function. Larger samples and further validation of the time-marking system are needed. This study provides a foundation for integrating sEMG measures into functional voice assessment. Full article
(This article belongs to the Special Issue Flexible Pressure/Force Sensors and Their Applications)
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11 pages, 225 KB  
Article
Safety of FEES Performed by Speech-Language Pathologists and Physicians–Evidence Supporting Task Sharing from a Retrospective Observational Study of 964 Consecutive Examinations
by Małgorzata Polit, Joanna Chmielewska-Walczak, Maria Sobol, Izabela Domitrz and Kazimierz Niemczyk
Nutrients 2025, 17(20), 3193; https://doi.org/10.3390/nu17203193 - 10 Oct 2025
Viewed by 443
Abstract
(1) Background: Fiberoptic Endoscopic Evaluation of Swallowing (FEES) is one of the two gold-standard tools for assessing oropharyngeal dysphagia (alongside Videofluoroscopic Swallowing Study). Although generally considered safe, concerns about complications persist, particularly in systems where FEES is not routine and professional roles differ. [...] Read more.
(1) Background: Fiberoptic Endoscopic Evaluation of Swallowing (FEES) is one of the two gold-standard tools for assessing oropharyngeal dysphagia (alongside Videofluoroscopic Swallowing Study). Although generally considered safe, concerns about complications persist, particularly in systems where FEES is not routine and professional roles differ. The aim of this study was to evaluate the safety of FEES performed by both speech-language pathologists (SLPs) and physicians, in order to provide evidence of its safety in a healthcare system where the procedure is not yet widely established and to identify patient subgroups potentially at higher risk of procedure-related complications. (2) Methods: This retrospective study analyzed 964 consecutive FEES procedures. Examinations were carried out by trained SLPs or physicians. Data included demographics, clinical status, operator qualifications, setting, and complications, classified as minor (vomiting, poor tolerance, early termination) or major (laryngospasm, epistaxis). (3) Results: The overall complication rate was 1.14% (11/964): 0.6% minor and 0.5% major. All events were self-limiting. Complication rates did not differ between SLPs (1.05%) and physicians (1.23%) or by experience, setting, drug use, penetration–aspiration scale score, or nasogastric tube. Four complications occurred in amyotrophic lateral sclerosis patients, suggesting higher risk. (4) Conclusions: FEES is safe and well tolerated when performed by either physicians or SLPs. These findings underscore the value of task sharing in dysphagia diagnostics, demonstrating that a shared model increases service capacity, reduces delays, and facilitates timely management of dysphagia. Full article
(This article belongs to the Section Geriatric Nutrition)
19 pages, 785 KB  
Review
Navigating Language in Dementia Care: Bilingualism, Communication, and the Untapped Potential of Speech-Language Pathologists
by Weifeng Han
J. Dement. Alzheimer's Dis. 2025, 2(4), 36; https://doi.org/10.3390/jdad2040036 - 9 Oct 2025
Viewed by 553
Abstract
Aim: As the global population ages, the number of bilingual individuals living with dementia is increasing, yet their communication needs remain underrepresented in both clinical practice and research. This evidence review examines the intersection of language regression, communication challenges, and cultural–linguistic identity in [...] Read more.
Aim: As the global population ages, the number of bilingual individuals living with dementia is increasing, yet their communication needs remain underrepresented in both clinical practice and research. This evidence review examines the intersection of language regression, communication challenges, and cultural–linguistic identity in bilingual dementia, with a particular focus on the role of speech–language pathologists (SLPs). Methods: Twelve peer-reviewed studies were critically reviewed and thematically analysed across four domains: (1) language regression and retention in bilingual dementia, (2) communication challenges in bilingual dementia care, (3) the marginal role of speech–language pathology, and (4) cultural–linguistic identity and health equity. The included studies span clinical case reports, experimental research, qualitative caregiver studies, and systematic reviews, with bilingual populations across Asia, Europe, North America, and the Middle East. Results: Findings reveal that language deterioration in bilingual dementia is dynamic and highly individualised, often influenced by language history, emotional context, and usage patterns. Caregivers and clinicians face persistent communication breakdowns, particularly in linguistically mismatched settings. Despite their specialised expertise in communication, SLPs remain largely peripheral in dementia care, constrained by systemic, educational, and methodological barriers. Moreover, linguistic and cultural identity play a critical role in how dementia is experienced and managed, yet are rarely integrated into care frameworks. Conclusions: This review highlights a significant knowledge–practice gap in bilingual dementia care and underscores the need to embed culturally and linguistically responsive communication practices, especially through speech–language therapy, at the centre of bilingual dementia care and support. It outlines key research and practice directions to advance equity, accuracy, and relational care in this growing population. Full article
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15 pages, 666 KB  
Review
Transforming Speech-Language Pathology with AI: Opportunities, Challenges, and Ethical Guidelines
by Georgios P. Georgiou
Healthcare 2025, 13(19), 2460; https://doi.org/10.3390/healthcare13192460 - 28 Sep 2025
Viewed by 1237
Abstract
Artificial intelligence (AI) is transforming the diagnosis, treatment, and management of speech-language disorders through advances in speech recognition, natural language processing, automated assessments, and personalized intervention. These tools have the potential to enhance clinical decision-making, improve diagnostic accuracy, and increase access to services [...] Read more.
Artificial intelligence (AI) is transforming the diagnosis, treatment, and management of speech-language disorders through advances in speech recognition, natural language processing, automated assessments, and personalized intervention. These tools have the potential to enhance clinical decision-making, improve diagnostic accuracy, and increase access to services for individuals with speech and language disorders, particularly in underserved populations. Despite this progress, adoption is challenged by data bias, lack of transparency, and limited integration into clinical workflows. To realize the potential of AI in communication sciences, both technical development and ethical safeguards are required. This paper outlines core applications, emerging opportunities, and major challenges in applying AI to speech-language pathology and proposes ethical principles for its responsible use. Full article
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27 pages, 2429 KB  
Article
Coaching Bilingual Speech-Language Student Clinicians and Spanish-Speaking Caregivers to Use Culturally Adapted NDBI Techniques with Autistic Preschoolers
by Richelle McGuire, Jessica Nico, Naomi Nattress, Carlos Irizarry-Pérez and Cindy Gevarter
Behav. Sci. 2025, 15(9), 1292; https://doi.org/10.3390/bs15091292 - 22 Sep 2025
Cited by 1 | Viewed by 475
Abstract
A cascading coaching model was used to teach bilingual speech-language pathology (SLP) graduate student clinicians and Spanish-speaking caregivers to implement naturalistic developmental behavioral intervention (NDBI) techniques with autistic preschoolers. Two triads (each consisting of a graduate student clinician, a minimally vocal child diagnosed [...] Read more.
A cascading coaching model was used to teach bilingual speech-language pathology (SLP) graduate student clinicians and Spanish-speaking caregivers to implement naturalistic developmental behavioral intervention (NDBI) techniques with autistic preschoolers. Two triads (each consisting of a graduate student clinician, a minimally vocal child diagnosed with autism, and a caregiver) participated in the study. Following the cascading approach, a lead instructor (with limited Spanish conversational skills) coached bilingual student clinicians (in English) to apply culturally adapted NDBI with child participants. Following additional instruction in coaching, student clinicians coached caregivers in Spanish. Effects were evaluated using a multiple methods approach consisting of multiple probes across participants single case experimental design and a qualitative analysis of semi-structured interviews with adult participants. All adult participants increased their use of targeted NDBI skills including elicitation techniques (creating communication temptations, using wait time, and prompting) and response techniques (reinforcing children’s communication with natural consequences and providing a contextually relevant vocal model), demonstrating large to very large effect sizes. Although qualitative findings indicated areas for improvement (e.g., additional Spanish supports for clinicians), thematic analysis revealed additional benefits in terms of positive changes across adult learning, behavior, and perspectives; child communication; and child-caregiver relationships. Full article
(This article belongs to the Special Issue Early Identification and Intervention of Autism)
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33 pages, 2089 KB  
Review
Virtual Reality in Speech Therapy Students’ Training: A Scoping Review
by Flavia Gentile, Mascha Wanke, Wolfgang Mueller and Evi Hochuli
Virtual Worlds 2025, 4(3), 37; https://doi.org/10.3390/virtualworlds4030037 - 21 Aug 2025
Viewed by 1202
Abstract
Virtual Reality (VR) is a useful educational tool in healthcare, allowing students to practise and improve practical skills. In speech therapy (ST), the need to revise academic curricula to adapt them to university contexts and integrate them into advanced clinical practices has highlighted [...] Read more.
Virtual Reality (VR) is a useful educational tool in healthcare, allowing students to practise and improve practical skills. In speech therapy (ST), the need to revise academic curricula to adapt them to university contexts and integrate them into advanced clinical practices has highlighted the need to analyse the use of VR in this sector. The objective of this scoping review was to investigate whether research has considered using VR to support ST students’ training and highlight potential gaps in the literature. The study followed the JBI methodology for scoping reviews and was reported according to PRISMA-ScR guidelines. A protocol to conduct the current review was developed and registered on the Open Science Framework. The articles considered were retrieved from databases specialising in healthcare, computer science, and education, and were enhanced by results found with the help of AI-based tools. No constraints were applied and all study types were considered. Fourteen studies were included in the review and analysed under four core subjects: VR technology, ST context, training purposes, and main outcomes and assessment methods. The VR types identified in the studies were grouped into four categories, i.e., non-immersive VR (6/14, 42.9%), immersive VR (5/14, 35.7%), non-specified VR type (2/14, 14.3%), and semi-immersive VR (1/14, 7.1%). Most studies (5/14, 35.7%) focused on clinical skills acquisition, others addressed communication and interpersonal collaborative skills (3/14, 21.4%), while the remaining focused on person-centred care and awareness, clinical interviewing or reasoning skills, and performance knowledge (2/14 each, 14.3%). VR is still in its early stages in ST education. Some recent studies suggest VR supports students’ communication, interdisciplinary, and clinical skills. Although still limited in the context of ST education, the increasing affordability and ease of development of VR, along with its growing use in other healthcare fields, suggest that its underuse might be due to institutional barriers and lack of standardised frameworks. Overall, the findings suggest that VR offers promising support for experiential and skills-based learning. Full article
(This article belongs to the Special Issue Empowering Health Education: Digital Transformation Frontiers for All)
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20 pages, 3244 KB  
Article
SOUTY: A Voice Identity-Preserving Mobile Application for Arabic-Speaking Amyotrophic Lateral Sclerosis Patients Using Eye-Tracking and Speech Synthesis
by Hessah A. Alsalamah, Leena Alhabrdi, May Alsebayel, Aljawhara Almisned, Deema Alhadlaq, Loody S. Albadrani, Seetah M. Alsalamah and Shada AlSalamah
Electronics 2025, 14(16), 3235; https://doi.org/10.3390/electronics14163235 - 14 Aug 2025
Viewed by 712
Abstract
Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disorder that progressively impairs motor and communication abilities. Globally, the prevalence of ALS was estimated at approximately 222,800 cases in 2015 and is projected to increase by nearly 70% to 376,700 cases by 2040, primarily driven [...] Read more.
Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disorder that progressively impairs motor and communication abilities. Globally, the prevalence of ALS was estimated at approximately 222,800 cases in 2015 and is projected to increase by nearly 70% to 376,700 cases by 2040, primarily driven by demographic shifts in aging populations, and the lifetime risk of developing ALS is 1 in 350–420. Despite international advancements in assistive technologies, a recent national survey in Saudi Arabia revealed that 100% of ALS care providers lack access to eye-tracking communication tools, and 92% reported communication aids as inconsistently available. While assistive technologies such as speech-generating devices and gaze-based control systems have made strides in recent decades, they primarily support English speakers, leaving Arabic-speaking ALS patients underserved. This paper presents SOUTY, a cost-effective, mobile-based application that empowers ALS patients to communicate using gaze-controlled interfaces combined with a text-to-speech (TTS) feature in Arabic language, which is one of the five most widely spoken languages in the world. SOUTY (i.e., “my voice”) utilizes a personalized, pre-recorded voice bank of the ALS patient and integrated eye-tracking technology to support the formation and vocalization of custom phrases in Arabic. This study describes the full development life cycle of SOUTY from conceptualization and requirements gathering to system architecture, implementation, evaluation, and refinement. Validation included expert interviews with Human–Computer Interaction (HCI) expertise and speech pathology specialty, as well as a public survey assessing awareness and technological readiness. The results support SOUTY as a culturally and linguistically relevant innovation that enhances autonomy and quality of life for Arabic-speaking ALS patients. This approach may serve as a replicable model for developing inclusive Augmentative and Alternative Communication (AAC) tools in other underrepresented languages. The system achieved 100% task completion during internal walkthroughs, with mean phrase selection times under 5 s and audio playback latency below 0.3 s. Full article
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22 pages, 1071 KB  
Review
The Interplay of Oxidative Stress, Mitochondrial Dysfunction, and Neuroinflammation in Autism Spectrum Disorder: Behavioral Implications and Therapeutic Strategies
by Ansab Akhtar and SK Batin Rahaman
Brain Sci. 2025, 15(8), 853; https://doi.org/10.3390/brainsci15080853 - 11 Aug 2025
Viewed by 3106
Abstract
Autism spectrum disorder (ASD) deals with several symptoms, including language and speech impairment and developmental delays. The main brain regions affected could be the prefrontal cortex (PFC) or the temporal lobe. The detrimental features could include oxidative stress, mitochondrial dysfunction, and neuroinflammation. Most [...] Read more.
Autism spectrum disorder (ASD) deals with several symptoms, including language and speech impairment and developmental delays. The main brain regions affected could be the prefrontal cortex (PFC) or the temporal lobe. The detrimental features could include oxidative stress, mitochondrial dysfunction, and neuroinflammation. Most often, these phenomena are interrelated and can lead to one another, creating a vicious cycle. They also influence the regulation of certain genes involved in the pathogenesis of ASD or related behavior. In the brain regions prone to these detrimental features, a cascade of free radicals, inflammatory cytokines, and mitochondrial energy disruptions is initiated. These actions during the prenatal or developmental stage of the child potentially lead to ASD symptomatic features, such as social isolation, communication difficulty, speech and language impairment, cognitive dysfunction, and intellectual disability. The more recent theories, including genetics, epigenetics, and the gut–brain axis, have been demonstrated to play a greater role in ASD pathology, often being associated with the more common ones as mentioned above. We also introduced some of the neurological disorders possessing shared genetic and behavioral traits with ASD. Many genes playing a role in ASD-like features and their potential targeted drugs were explained briefly. However, there are limited therapeutic options, and molecular pathways related to this disorder are less explored. Currently, researchers and therapists are racing to uncover a concrete remedy. This review also provides a brief outline of potential antioxidant, mitochondrial, and anti-inflammatory therapies. We finally included some novel strategies to diagnose and manage autistic pathology and symptoms. Full article
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33 pages, 1512 KB  
Review
Advances and Challenges in Deep Learning for Acoustic Pathology Detection: A Review
by Florin Bogdan and Mihaela-Ruxandra Lascu
Technologies 2025, 13(8), 329; https://doi.org/10.3390/technologies13080329 - 1 Aug 2025
Cited by 1 | Viewed by 735
Abstract
Recent advancements in data collection technologies, data science, and speech processing have fueled significant interest in the computational analysis of biological sounds. This enhanced analytical capability shows promise for improved understanding and detection of various pathological conditions, extending beyond traditional speech analysis to [...] Read more.
Recent advancements in data collection technologies, data science, and speech processing have fueled significant interest in the computational analysis of biological sounds. This enhanced analytical capability shows promise for improved understanding and detection of various pathological conditions, extending beyond traditional speech analysis to encompass other forms of acoustic data. A particularly promising and rapidly evolving area is the application of deep learning techniques for the detection and analysis of diverse pathologies, including respiratory, cardiac, and neurological disorders, through sound processing. This paper provides a comprehensive review of the current state-of-the-art in using deep learning for pathology detection via analysis of biological sounds. It highlights key successes achieved in the field, identifies existing challenges and limitations, and discusses potential future research directions. This review aims to serve as a valuable resource for researchers and clinicians working in this interdisciplinary domain. Full article
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12 pages, 445 KB  
Article
The Effect of Phoniatric and Logopedic Rehabilitation on the Voice of Patients with Puberphonia
by Lidia Nawrocka, Agnieszka Garstecka and Anna Sinkiewicz
J. Clin. Med. 2025, 14(15), 5350; https://doi.org/10.3390/jcm14155350 - 29 Jul 2025
Viewed by 856
Abstract
Background/Objective: Puberphonia is a voice disorder characterized by the persistence of a high-pitched voice in sexually mature males. In phoniatrics and speech-language pathology, it is also known as post-mutational voice instability, mutational falsetto, persistent fistulous voice, or functional falsetto. The absence of an [...] Read more.
Background/Objective: Puberphonia is a voice disorder characterized by the persistence of a high-pitched voice in sexually mature males. In phoniatrics and speech-language pathology, it is also known as post-mutational voice instability, mutational falsetto, persistent fistulous voice, or functional falsetto. The absence of an age-appropriate vocal pitch may adversely affect psychological well-being and hinder personal, social, and occupational functioning. The aim of this study was to evaluate of the impact of phoniatric and logopedic rehabilitation on voice quality in patients with puberphonia. Methods: The study included 18 male patients, aged 16 to 34 years, rehabilitated for voice mutation disorders. Phoniatric and logopedic rehabilitation included voice therapy tailored to each subject. A logopedist led exercises aimed at lowering and stabilizing the pitch of the voice and improving its quality. A phoniatrician supervised the therapy, monitoring the condition of the vocal apparatus and providing additional diagnostic and therapeutic recommendations as needed. The duration and intensity of the therapy were adjusted for each patient. Before and after voice rehabilitation, the subjects completed the following questionnaires: the Voice Handicap Index (VHI), the Vocal Tract Discomfort (VTD) scale, and the Voice-Related Quality of Life (V-RQOL). They also underwent an acoustic voice analysis. Results: Statistical analysis of the VHI, VTD, and V-RQOL scores, as well as the voice’s acoustic parameters, showed statistically significant differences before and after rehabilitation (p < 0.005). Conclusions: Phoniatric and logopedic rehabilitation is an effective method of reducing and maintaining a stable, euphonic male voice in patients with functional puberphonia. Effective voice therapy positively impacts selected aspects of psychosocial functioning reported by patients, improves voice-related quality of life, and reduces physical discomfort in the vocal tract. Full article
(This article belongs to the Section Otolaryngology)
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20 pages, 651 KB  
Review
Communication Disorders and Mental Health Outcomes in Children and Adolescents: A Scoping Review
by Lifan Xue, Yifang Gong, Shane Pill and Weifeng Han
Healthcare 2025, 13(15), 1807; https://doi.org/10.3390/healthcare13151807 - 25 Jul 2025
Cited by 1 | Viewed by 2805
Abstract
Background/Objectives: Communication disorders in childhood, including expressive, receptive, pragmatic, and fluency impairments, have been consistently linked to mental health challenges such as anxiety, depression, and behavioural difficulties. However, existing research remains fragmented across diagnostic categories and developmental stages. This scoping review aimed [...] Read more.
Background/Objectives: Communication disorders in childhood, including expressive, receptive, pragmatic, and fluency impairments, have been consistently linked to mental health challenges such as anxiety, depression, and behavioural difficulties. However, existing research remains fragmented across diagnostic categories and developmental stages. This scoping review aimed to synthesise empirical evidence on the relationship between communication disorders and mental health outcomes in children and adolescents and to identify key patterns and implications for practice and policy. Methods: Following the PRISMA Extension for Scoping Reviews (PRISMA-ScR) and Arksey and O’Malley’s framework, this review included empirical studies published in English between 2000 and 2024. Five databases were searched, and ten studies met the inclusion criteria. Data were charted and thematically analysed to explore associations across communication profiles and emotional–behavioural outcomes. Results: Four interconnected themes were identified: (1) emotional and behavioural manifestations of communication disorders; (2) social burden linked to pragmatic and expressive difficulties; (3) family and environmental stressors exacerbating child-level challenges; and (4) a lack of integrated care models addressing both communication and mental health needs. The findings highlight that communication disorders frequently co-occur with emotional difficulties, often embedded within broader social and systemic contexts. Conclusions: This review underscores the need for developmentally informed, culturally responsive, and interdisciplinary service models that address both communication and mental health in children. Early identification, family-centred care, and policy reforms are critical to reducing inequities and improving outcomes for this underserved population. Full article
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13 pages, 1177 KB  
Perspective
Banking on My Voice: Life with Motor Neurone Disease
by Ian Barry and Sarah El-Wahsh
Healthcare 2025, 13(14), 1770; https://doi.org/10.3390/healthcare13141770 - 21 Jul 2025
Viewed by 913
Abstract
This perspective paper presents a first-person account of life with motor neurone disease (MND). Through the lens of lived experience, it explores the complex and often prolonged diagnostic journey, shaped in part by the protective grip of denial. This paper then delves into [...] Read more.
This perspective paper presents a first-person account of life with motor neurone disease (MND). Through the lens of lived experience, it explores the complex and often prolonged diagnostic journey, shaped in part by the protective grip of denial. This paper then delves into the emotional impact of MND on the individual and their close relationships, capturing the strain on identity and family dynamics. It also highlights the vital role of the multidisciplinary team in providing support throughout the journey. A central focus of the paper is the personal journey of voice banking. It reflects on the restorative experience of reclaiming a pre-disease voice through tools such as ElevenLabsTM. This narrative underscores the critical importance of early intervention and timely access to voice banking, positioning voice not only as a tool for communication but also as a powerful anchor of identity, dignity, and agency. The paper concludes by highlighting key systemic gaps in MND care. It calls for earlier referral to speech pathology, earlier access to voice banking, access to psychological support from the time of diagnosis, and better integration between research and clinical care. Full article
(This article belongs to the Special Issue Improving Care for People Living with ALS/MND)
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2 pages, 184 KB  
Correction
Correction: Martin et al. The Health Literacy of First Year Physiotherapy and Speech Pathology Students and Their Perceived Future Roles in Supporting Their Clients’ Health Literacy. Int. J. Environ. Res. Public Health 2023, 20, 6013
by Romany Martin, Jade Cartwright and Marie-Louise Bird
Int. J. Environ. Res. Public Health 2025, 22(7), 1134; https://doi.org/10.3390/ijerph22071134 - 18 Jul 2025
Viewed by 672
Abstract
The authors have requested that the following changes be made to the original publication [...] Full article
30 pages, 891 KB  
Review
Communication Abilities, Assessment Procedures, and Intervention Approaches in Rett Syndrome: A Narrative Review
by Louiza Voniati, Angelos Papadopoulos, Nafsika Ziavra and Dionysios Tafiadis
Brain Sci. 2025, 15(7), 753; https://doi.org/10.3390/brainsci15070753 - 15 Jul 2025
Cited by 1 | Viewed by 904
Abstract
Background/Objectives: Rett syndrome (RTT) is a rare neurodevelopmental disorder that affects movement and communication skills primarily in females. This study aimed to synthesize the research from the last two decades regarding the verbal and nonverbal communication abilities, assessment procedures, and intervention approaches for [...] Read more.
Background/Objectives: Rett syndrome (RTT) is a rare neurodevelopmental disorder that affects movement and communication skills primarily in females. This study aimed to synthesize the research from the last two decades regarding the verbal and nonverbal communication abilities, assessment procedures, and intervention approaches for individuals with RTT. Methods: A structured literature search was conducted using the Embase, Scopus, and PubMed databases. Fifty-seven studies were selected and analyzed based on inclusion criteria. The data were categorized into four domains (verbal communication skills, nonverbal communication skills, assessment procedures, and intervention approaches). Results: The findings indicated a wide variety of communicative behaviors across the RTT population, including prelinguistic signals, regression in verbal output, and preserved nonverbal communicative intent. Moreover, the results highlighted the importance of tailored assessments (Inventory of Potential Communicative Acts, eye tracking tools, and Augmentative and Alternative Communication) to facilitate functional communication. The individualized intervention approaches were found to be the most effective in improving communicative participation. Conclusions: The current review provides an overview of the current evidence with an emphasis on the need for personalized and evidence-based clinical practices. Additionally, it provided guidance for professionals, clinicians, and researchers seeking to improve the quality of life for individuals with RTT. Full article
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18 pages, 566 KB  
Review
Skeletal Muscle Pathology in Autosomal Recessive Cerebellar Ataxias: Insights from Marinesco–Sjögren Syndrome
by Fabio Bellia, Luca Federici, Valentina Gatta, Giuseppe Calabrese and Michele Sallese
Int. J. Mol. Sci. 2025, 26(14), 6736; https://doi.org/10.3390/ijms26146736 - 14 Jul 2025
Viewed by 700
Abstract
Cerebellar ataxias are a group of disorders characterized by clumsy movements because of defective muscle control. In affected individuals, muscular impairment might have an impact on activities like walking, balance, hand coordination, speech, and feeding, as well as eye movements. The development of [...] Read more.
Cerebellar ataxias are a group of disorders characterized by clumsy movements because of defective muscle control. In affected individuals, muscular impairment might have an impact on activities like walking, balance, hand coordination, speech, and feeding, as well as eye movements. The development of symptoms typically takes place during the span of adolescence, and it has the potential to cause distress for individuals in many areas of their lives, including professional and interpersonal relationships. Although skeletal muscle is understudied in ataxias, its examination may provide hitherto unexplored details in this family of disorders. Observing muscle involvement can assist in diagnosing conditions where genetic tests alone are inconclusive. Furthermore, it helps determine the stage of progression of a pathology that might otherwise be challenging to assess. In this study, we reviewed the main scientific literature reporting on skeletal muscle examination in autosomal recessive cerebellar ataxias (ARCAs), with a focus on the rare Marinesco–Sjögren syndrome. (MSS). Our aim was to highlight the similarities in muscle alterations observed in ARCA patients while also considering data gathered from preclinical models. Analyzing the similarities among these disorders could enhance our understanding of the unidentified mechanisms underlying the phenotypic evolution of some less common conditions. Full article
(This article belongs to the Section Molecular Pathology, Diagnostics, and Therapeutics)
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