keyword
https://read.qxmd.com/read/38585550/delayed-bone-age-in-a-child-with-a-novel-loss-of-function-variant-in-setbp1-gene-sheds-light-on-the-potential-role-of-setbp1-protein-in-skeletal-development
#21
JOURNAL ARTICLE
Gianmaria Miolo, Davide Colavito, Lara Della Puppa, Giuseppe Corona
INTRODUCTION: SETBP1 gene variants that decrease or eliminate protein activity have been associated with phenotypes characterized by speech apraxia and intellectual disabilities. This condition, distinctly separated from Schinzel-Giedion syndrome, is referred to as autosomal dominant mental retardation 29 (ADR29). CASE PRESENTATION: In this report, we present the case of a 6-year-old male patient exhibiting fine and global motor skill impairments along with expressive language delay...
March 2024: Molecular Syndromology
https://read.qxmd.com/read/38579544/narrative-skills-and-language-comprehension-in-preschool-children-with-cochlear-implants-a-comparison-with-children-with-developmental-language-disorder-or-typical-development
#22
JOURNAL ARTICLE
Marinella Majorano, Valentina Persici, Michela Santangelo, Rachele Ferrari, Beatrice Bertelli, Elena Florit, Manuela Lavelli, Tamara Bastianello, Letizia Guerzoni, Domenico Cuda
INTRODUCTION: The narrative skills of children with cochlear implants (CIs) are fragile, but the factors at play and whether these difficulties could be similar to those detected in language impairment are not clear. The present study aims to assess, at the microstructural level, narrative skills, comparing children with CIs with children with Developmental Language Disorder (DLD) or Typical Development (TD). Furthermore, the relationship between verbal (lexical and morphosyntactic) comprehension and narrative skills across groups is investigated...
March 26, 2024: Journal of Communication Disorders
https://read.qxmd.com/read/38578299/a-scoping-review-of-aac-interventions-for-children-and-young-adults-with-simultaneous-visual-and-motor-impairments-clinical-and-research-implications
#23
JOURNAL ARTICLE
Savanna Brittlebank, Janice C Light, Lauramarie Pope
Individuals with multiple disabilities are among the most challenging to serve and AAC teams often lack direction in determining effective interventions. The purpose of this scoping review was to summarize the research evidence on AAC interventions for individuals with complex communication needs and simultaneous motor, and visual impairments as part of their multiple disabilities; to consider implications for practice; and to determine gaps and directions for future research. A total of 27 studies were identified and reviewed, involving 55 unique participants with multiple disabilities...
April 5, 2024: Augmentative and Alternative Communication: AAC
https://read.qxmd.com/read/38577124/inner-speech-in-the-daily-lives-of-people-with-aphasia
#24
JOURNAL ARTICLE
Julianne M Alexander, Tessa Hedrick, Brielle C Stark
INTRODUCTION: This exploratory, preliminary, feasibility study evaluated the extent to which adults with chronic aphasia ( N  = 23) report experiencing inner speech in their daily lives by leveraging experience sampling and survey methodology. METHODS: The presence of inner speech was assessed at 30 time-points and themes of inner speech at three time-points, over the course of three weeks. The relationship of inner speech to aphasia severity, demographic information (age, sex, years post-stroke), and insight into language impairment was evaluated...
2024: Frontiers in Psychology
https://read.qxmd.com/read/38576871/secondary-language-impairment-in-posterior-cortical-atrophy-insights-from-sentence-repetition
#25
JOURNAL ARTICLE
Samrah Ahmed, Josie Caswell, Christopher R Butler, Arpita Bose
INTRODUCTION: Posterior cortical atrophy (PCA) is a neurodegenerative syndrome characterized by progressive impairment in visuospatial and perceptual function linked to atrophy of the occipito-parietal cortex. Besides the salient visual impairment, several studies have documented subtle changes in language may also be present. Sentence repetition is a highly constrained linguistic task involving multiple linguistic and cognitive processes and have been shown to be impaired in other AD spectrum disorders, with little consensus on its relevance in PCA...
2024: Frontiers in Neuroscience
https://read.qxmd.com/read/38574651/predominantly-unilateral-laryngomalacia-in-infants-with-unilateral-vocal-fold-paralysis
#26
JOURNAL ARTICLE
Aditi Katwala, Cody Anderson, Emma Thayer, Danielle Hitzel, Marshall E Smith, Matthew R Hoffman
BACKGROUND: Neonatal unilateral vocal fold paralysis may arise iatrogenically, idiopathically, or in the context of an underlying neurologic disorder. Management is often supportive, focusing on diet modification to allow for safe oral feeding. We describe the clinical course of six infants with unilateral vocal fold paralysis who developed predominantly unilateral laryngomalacia ipsilateral to the affected vocal fold with associated severe respiratory symptoms and feeding difficulty...
April 2024: International Journal of Pediatric Otorhinolaryngology
https://read.qxmd.com/read/38572901/help-seeking-journey-to-accessing-audiology-services-in-a-peri-urban-community-in-south-africa
#27
JOURNAL ARTICLE
Thobekile K Mtimkulu, Katijah Khoza-Shangase
BACKGROUND:  Hearing impairment is an invisible disability affecting one in five people globally. Its ability to affect participation in activities of daily living means that it requires prompt identification and intervention. OBJECTIVE:  This article aims to define the process of accessing audiologists from the onset of symptoms for adults with hearing impairment in a peri-urban community in South Africa. METHOD:  Twenty-three participants were recruited through purposive sampling from an audiology department of a public hospital...
March 20, 2024: South African Journal of Communication Disorders. die Suid-Afrikaanse Tydskrif Vir Kommunikasieafwykings
https://read.qxmd.com/read/38572898/a-call-for-linguistic-and-culturally-congruent-family-centred-early-hearing-detection-and-intervention-programmes-in-south-africa
#28
JOURNAL ARTICLE
Ntsako P Maluleke
Early Hearing Detection and Intervention (EHDI) programmes are recognised as the standard of care for newborns and infants presenting with hearing impairment, globally. However, widespread implementation of these programmes is far from being realised and faces numerous challenges within the South African context. The United Nations' sustainable development goal 3.8 and South Africa's national development plan seek to achieve equitable access to healthcare service, including EHDI. However, healthcare access is a complex concept which encompasses the dimensions: availability, affordability, acceptability and accommodation in healthcare...
March 19, 2024: South African Journal of Communication Disorders. die Suid-Afrikaanse Tydskrif Vir Kommunikasieafwykings
https://read.qxmd.com/read/38568053/universal-and-language-specific-connected-speech-characteristics-of-bilingual-speakers-with-alzheimer-s-disease-insights-from-case-studies-of-structurally-distinct-languages
#29
JOURNAL ARTICLE
Manaswita Dutta, Tina M D Mello, Yesi Cheng, Niladri Sekhar Dash, Ranita Nandi, Aparna Dutt, Arpita Bose
PURPOSE: Connected speech analysis has been effectively utilized for the diagnosis and disease monitoring of individuals with Alzheimer's disease (AD). Existing research has been conducted mostly in monolingual English speakers with a noticeable lack of evidence from bilinguals and non-English speakers, particularly in non-European languages. Using a case study approach, we characterized connected speech profiles of two Bengali-English bilingual speakers with AD to determine the universal features of language impairments in both languages, identify language-specific differences between the languages, and explore language impairment characteristics of the participants with AD in relation to their bilingual language experience...
April 8, 2024: Journal of Speech, Language, and Hearing Research: JSLHR
https://read.qxmd.com/read/38566942/picture-naming-test-through-the-prism-of-cognitive-neuroscience-and-linguistics-adapting-the-test-for-cerebellar-tumor-survivors-or-pouring-new-wine-in-old-sacks
#30
REVIEW
Olga Morkovina, Piruza Manukyan, Anastasia Sharapkova
A picture naming test (PNT) has long been regarded as an integral part of neuropsychological assessment. In current research and clinical practice, it serves a variety of purposes. PNTs are used to assess the severity of speech impairment in aphasia, monitor possible cognitive decline in aging patients with or without age-related neurodegenerative disorders, track language development in children and map eloquent brain areas to be spared during surgery. In research settings, picture naming tests provide an insight into the process of lexical retrieval in monolingual and bilingual speakers...
2024: Frontiers in Psychology
https://read.qxmd.com/read/38565200/factors-affecting-performance-on-a-screening-tool-in-persons-with-amyotrophic-lateral-sclerosis
#31
JOURNAL ARTICLE
Jordan Stierwalt, Julie A G Stierwalt, Heather Clark, Angela Burda, Hanna Benavidez Kiley, Erica Collins, Morgan Kortemeyer, Elizabeth Miller, Grace Peckenschneider, Elizabeth Schieltz, Yashvi Shah, Kayleigh Simon
Persons with amyotrophic lateral sclerosis (PALS) are at risk of developing cognitive impairments and frontotemporal dementia (FTD). This study examined the relationship between performance of the ALS-Cognitive Behavioral Screen (ALS-CBS) and the demographic parameters of sex, education, time post-ALS diagnosis, and severity of symptoms. Data were collected retrospectively from 69 participants seen at the Mayo Clinic. Correlations were conducted on the ALS-CBS total scores and subsection scores and the above listed parameters; t-tests were conducted between participant subgroups...
April 2, 2024: Seminars in Speech and Language
https://read.qxmd.com/read/38563721/speech-amplification-device-usage-for-the-management-of-hypophonia-a-survey-of-speech-language-pathologists
#32
JOURNAL ARTICLE
Kelly Gates, Thea Knowles, Helen Mach, Jeff Higginbotham, Thea Holder
PURPOSE: The purpose of this study was to survey speech-language pathologists (SLPs) who assess and treat people with Parkinson's disease (PD) to gather insights into their decision making regarding their use or potential use of speech amplification technology for the management of hypophonia. METHOD: A total of 111 SLPs who were currently practicing in the United States or Canada and had experience working with clients with PD for at least 2 years completed an anonymous Qualtrics survey...
April 2, 2024: American Journal of Speech-language Pathology
https://read.qxmd.com/read/38547655/flp-factor-lattice-pattern-based-automated-detection-of-parkinson-s-disease-and-specific-language-impairment-using-recorded-speech
#33
JOURNAL ARTICLE
Turker Tuncer, Sengul Dogan, Mehmet Baygin, Prabal Datta Barua, Elizabeth Emma Palmer, Sonja March, Edward J Ciaccio, Ru-San Tan, U Rajendra Acharya
BACKGROUND: Timely detection of neurodevelopmental and neurological conditions is crucial for early intervention. Specific Language Impairment (SLI) in children and Parkinson's disease (PD) manifests in speech disturbances that may be exploited for diagnostic screening using recorded speech signals. We were motivated to develop an accurate yet computationally lightweight model for speech-based detection of SLI and PD, employing novel feature engineering techniques to mimic the adaptable dynamic weight assignment network capability of deep learning architectures...
March 20, 2024: Computers in Biology and Medicine
https://read.qxmd.com/read/38539600/the-optimization-of-a-natural-language-processing-approach-for-the-automatic-detection-of-alzheimer-s-disease-using-gpt-embeddings
#34
JOURNAL ARTICLE
Benjamin S Runde, Ajit Alapati, Nicolas G Bazan
The development of noninvasive and cost-effective methods of detecting Alzheimer's disease (AD) is essential for its early prevention and mitigation. We optimize the detection of AD using natural language processing (NLP) of spontaneous speech through the use of audio enhancement techniques and novel transcription methodologies. Specifically, we utilized Boll Spectral Subtraction to improve audio fidelity and created transcriptions using state-of-the-art AI services-locally-based Wav2Vec and Whisper, alongside cloud-based IBM Cloud and Rev AI-evaluating their performance against traditional manual transcription methods...
February 25, 2024: Brain Sciences
https://read.qxmd.com/read/38536488/the-quantification-of-radiation-fibrosis-using-clinically-indicated-magnetic-resonance-imaging-for-head-and-neck-cancer-patients
#35
JOURNAL ARTICLE
Zhiyao Che, Aamir Suhail, Nicolin Hainc, Aliaa Sabry, Eugene Yu, Wei Xu, David Goldstein, John Waldron, Shao Hui Huang, Rosemary Martino
Currently, no objective method exists to measure the extent of fibrosis in swallowing musculature in head and neck cancer (HNC) patients. We developed and psychometrically tested a method of quantifying fibrosis volume using magnetic resonance imaging (MRI). The overall aim of this study was to determine if clinical MRI is a reliable tool to measure fibrosis of the pharyngeal musculature in patients with HNC managed with RT and to assess its potential to capture changes in fibrosis over time. Eligible participants were adults with HNC treated with radiation therapy (RT) who received minimally two MRIs and videofluoroscopic swallow (VFS) studies from baseline (pre-RT) up to 1-year post-RT...
March 27, 2024: Dysphagia
https://read.qxmd.com/read/38533839/dysphagia-therapy-in-adults-with-a-tracheostomy-a-scoping-review-protocol
#36
JOURNAL ARTICLE
Waiza Kadri, Rhiannon Halfpenny, Breege Whiten, Siofra Mulkerrin, Christina Smith
BACKGROUND: Swallowing impairment (dysphagia) and tracheostomy coexist. Research in this area has often provided an overview of dysphagia management as a whole, but there is limited information pertaining to specific dysphagia therapy in the tracheostomy population. The aim of this scoping review is to provide a detailed exploration of the literature with regard to dysphagia therapeutic interventions in adults with a tracheostomy. The scoping review will describe current evidence and thus facilitate future discussions to guide clinical practice...
March 27, 2024: International Journal of Language & Communication Disorders
https://read.qxmd.com/read/38530396/language-independent-acoustic-biomarkers-for-quantifying-speech-impairment-in-huntington-s-disease
#37
JOURNAL ARTICLE
Vitória S Fahed, Emer P Doheny, Carla Collazo, Joanna Krzysztofik, Elliot Mann, Philippa Morgan-Jones, Laura Mills, Cheney Drew, Anne E Rosser, Rebecca Cousins, Grzegorz Witkowski, Esther Cubo, Monica Busse, Madeleine M Lowery
PURPOSE: Changes in voice and speech are characteristic symptoms of Huntington's disease (HD). Objective methods for quantifying speech impairment that can be used across languages could facilitate assessment of disease progression and intervention strategies. The aim of this study was to analyze acoustic features to identify language-independent features that could be used to quantify speech dysfunction in English-, Spanish-, and Polish-speaking participants with HD. METHOD: Ninety participants with HD and 83 control participants performed sustained vowel, syllable repetition, and reading passage tasks recorded with previously validated methods using mobile devices...
March 26, 2024: American Journal of Speech-language Pathology
https://read.qxmd.com/read/38522116/sleep-quality-relates-to-language-impairment-in-children-with-autism-spectrum-disorder-without-intellectual-disability
#38
JOURNAL ARTICLE
Carmen Berenguer, Eva Rosa, Simona De Stasio, Nora Choque Olsson
OBJECTIVES: This study aimed to identify sleep quality profiles of children with autism spectrum disorder (ASD), to compare these profiles with those of typically developing (TD) children, and to verify whether there are differences between them in terms of language skills. METHODS: We evaluated the sleep quality and language skills of 47 children with ASD without intellectual disability (ID) and 32 children with TD. Using a hierarchical cluster analysis, we identified two sleep quality ASD profiles (poor and good)...
March 18, 2024: Sleep Medicine
https://read.qxmd.com/read/38514689/action-video-games-normalise-the-phonemic-awareness-in-pre-readers-at-risk-for-developmental-dyslexia
#39
JOURNAL ARTICLE
Sara Bertoni, Chiara Andreola, Sara Mascheretti, Sandro Franceschini, Milena Ruffino, Vittoria Trezzi, Massimo Molteni, Maria Enrica Sali, Antonio Salandi, Ombretta Gaggi, Claudio Palazzi, Simone Gori, Andrea Facoetti
Action video-games (AVGs) could improve reading efficiency, enhancing not only visual attention but also phonological processing. Here we tested the AVG effects upon three consolidated language-based predictors of reading development in a sample of 79 pre-readers at-risk and 41 non-at-risk for developmental dyslexia. At-risk children were impaired in either phonemic awareness (i.e., phoneme discrimination task), phonological working memory (i.e., pseudoword repetition task) or rapid automatized naming (i.e...
March 21, 2024: NPJ Science of Learning
https://read.qxmd.com/read/38512040/exploring-motor-speech-disorders-in-low-and-minimally-verbal-autistic-individuals-an-auditory-perceptual-analysis
#40
JOURNAL ARTICLE
Marc F Maffei, Karen V Chenausky, Abigail Haenssler, Claudia Abbiati, Helen Tager-Flusberg, Jordan R Green
PURPOSE: Motor deficits are widely documented among autistic individuals, and speech characteristics consistent with a motor speech disorder have been reported in prior literature. We conducted an auditory-perceptual analysis of speech production skills in low and minimally verbal autistic individuals as a step toward clarifying the nature of speech production impairments in this population and the potential link between oromotor functioning and language development. METHOD: Fifty-four low or minimally verbal autistic individuals aged 4-18 years were video-recorded performing nonspeech oromotor tasks and producing phonemes, syllables, and words in imitation...
March 21, 2024: American Journal of Speech-language Pathology
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