543 results match your criteria: "Royal College of Speech & Language Therapists[Affiliation]"

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Genet Med

December 2024

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK; Division of Clinical Medicine, University of Sheffield, Sheffield, UK. Electronic address:

Article Synopsis
  • The TAOK proteins are important kinases involved in various cellular functions and are linked to neurodevelopmental disorders (NDDs) like those caused by TAOK1 and TAOK2 variants.
  • A study analyzed clinical and genetic data from individuals with these variants, revealing that TAOK1 variants lead to significant neurodevelopmental issues and some novel characteristics, while TAOK2 variants are tied to neurodevelopmental abnormalities, autism, and obesity.
  • This research expands the understanding of these disorders by presenting the largest cohort of individuals with TAOK1-NDD and identifying new variants and phenotypes associated with both TAOK1 and TAOK2.
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Background: There is a growing expectation that neurodivergent young people, such as those with diagnoses of attention-deficit/hyperactivity disorder (ADHD) and/or autism, should play a central role in shaping research on neurodevelopmental conditions. However, currently, their involvement is typically limited to arms-length advice. To address this, the (RE-STAR) programme has co-developed a framework for deepening the involvement of neurodivergent participants in translational research.

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Comprehension of acoustically degraded emotional prosody in Alzheimer's disease and primary progressive aphasia.

Sci Rep

December 2024

Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, 1st Floor, 8-11 Queen Square, London, WC1N 3AR, UK.

Previous research suggests that emotional prosody perception is impaired in neurodegenerative diseases like Alzheimer's disease (AD) and primary progressive aphasia (PPA). However, no previous research has investigated emotional prosody perception in these diseases under non-ideal listening conditions. We recruited 18 patients with AD, and 31 with PPA (nine logopenic (lvPPA); 11 nonfluent/agrammatic (nfvPPA) and 11 semantic (svPPA)), together with 24 healthy age-matched individuals.

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Purpose: Gastrointestinal (GI) dysfunction is common in critically ill patients and associated with poor outcomes. There is a lack of standardised methods for daily monitoring of GI function. COSMOGI aimed to develop a Core Outcome Set (COS) for daily monitoring of GI function to improve consistency and comparability in future studies in critically ill patients.

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Longitudinal patient registries generate important evidence for advancing clinical care and the regulatory evaluation of health-care products. Most national registries rely on data collected as part of routine clinical encounters, an approach that does not capture real-world, patient-centred outcomes, such as physical activity, fatigue, ability to do daily tasks, and other indicators of quality of life. Digital health technologies that obtain such real-world data could greatly enhance patient registries but unresolved challenges have so far prevented their broad adoption.

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Background: Over 200,000 patients are referred onto the suspected head and neck cancer (HNC) pathway annually in the UK, with around 3% receiving a cancer diagnosis. With new HNC advancements in identifying patients at low risk of a cancer diagnosis, one proposal is a speech and language therapy (SLT)-led first point of contact clinic for low-risk patients presenting with voice or swallowing symptoms.

Aims: To explore ear, nose and throat (ENT) surgeons' views regarding this model.

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Empathy Development in Preschoolers With/Without Hearing Loss and Its Associations with Social-Emotional Functioning.

Res Child Adolesc Psychopathol

December 2024

Unit of Developmental and Educational Psychology, Institute of Psychology, Faculty of Social and Behavioral Sciences, Leiden University, Leiden, The Netherlands.

Empathy plays a crucial role in children's social-emotional development. There is an increasing trend in recent studies to recognize empathy as a multi-dimensional construct, consisting of three distinct hierarchical levels: emotion contagion, attention to others' feelings and prosocial behaviors (Hoffman, Motiv Emot, 14(2), 151-172, 1990). The present study is amongst the first to use a longitudinal approach to examine the development trajectories of the distinct empathic levels, based on a sample of Chinese preschoolers aged 2 to 6 years, half of the sample being deaf or hard-of-hearing (DHH).

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Language is acquired and processed in complex and dynamic naturalistic contexts, involving the simultaneous processing of connected speech, faces, bodies, objects, etc. How words and their associated concepts are encoded in the brain during real-world processing is still unknown. Here, the representational structure of concrete and abstract concepts was investigated during movie watching to address the extent to which brain responses dynamically change depending on visual context.

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Lessons on AI implementation from senior clinical practitioners: An exploratory qualitative study in medical imaging and radiotherapy in the UK.

J Med Imaging Radiat Sci

November 2024

Department of Midwifery & Radiography, City St George's, University of London, UK; The Society and College of Radiographers, London, UK; European Society of Medical Imaging Informatics, Vienna, Austria; European Federation of Radiographer Societies, Cumieira, Portugal.

Introduction: Artificial Intelligence (AI) has the potential to transform medical imaging and radiotherapy; both fields where radiographers' use of AI tools is increasing. This study aimed to explore the views of those professionals who are now using AI tools.

Methods: A small-scale exploratory research process was employed, where qualitative data was obtained from five UK-based participants; all professionals working in medical imaging and radiotherapy who use AI in clinical practice.

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Alterations in subcortical brain regions are linked to motor and non-motor symptoms in Parkinson's disease (PD). However, associations between clinical expression and regional morphological abnormalities of the basal ganglia, thalamus, amygdala and hippocampus are not well established. We analyzed 3D T1-weighted brain MRI and clinical data from 2525 individuals with PD and 1326 controls from 22 global sources in the ENIGMA-PD consortium.

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Introduction: Children with special educational needs are more likely to have vision problems than peers in mainstream education. Reports focus on visual acuity and refraction, overlooking visuoperceptual difficulties, including cerebral visual impairment. This article reports on the feasibility and outcomes of visual function testing performed during in-school visual assessments.

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Frontotemporal dementia (FTD) is one of the leading causes of young-onset dementia before age 65, typically manifesting as abnormal behavior (in behavioral variant FTD) or language impairment (in primary progressive aphasia). Although FTD affects all populations across the globe, knowledge regarding the pathophysiology and genetics derives primarily from studies conducted in North America and Western Europe. Globally, biomedical research for FTD is hindered by variable access to diagnosis, discussed in this group's earlier article, and by reduced access to expertise, funding, and infrastructure.

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Introduction: Interventions to treat speech-language difficulties in primary progressive aphasia (PPA) often use word accuracy as a highly comparable outcome. However, there are more constructs of importance to people with PPA that have received less attention.

Methods: Following Core Outcome Set Standards for Development Recommendations (COSSTAD), this study comprised: Stage 1 - systematic review to identify measures; Stage 2 - consensus groups to identify important outcome constructs for people with PPA (n = 82) and care partners (n = 91); Stage 3 - e-Delphi consensus with 57 researchers.

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Article Synopsis
  • - This study compares cochlear implant (CI) outcomes for speech perception in patients with sporadic vestibular schwannoma (VS) treated through observation, radiosurgery, or microsurgery.
  • - Of the 100 patients analyzed, those who underwent microsurgery had poorer speech perception scores compared to those who were observed or treated with radiosurgery, with only 61% achieving open-set speech perception after microsurgery.
  • - The findings suggest that cochlear implants can be beneficial for sporadic VS patients, particularly those managed by observation or radiosurgery, as these groups showed significantly better outcomes in achieving open-set speech perception.
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Polygenic Risk Scores and Hearing Loss Phenotypes in Children.

JAMA Otolaryngol Head Neck Surg

November 2024

Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

Importance: Monogenic causes of childhood hearing loss are well established, as are polygenic risk contributions to age-related hearing loss. However, an untested possibility is that polygenic risk scores (PRS) also contribute to childhood hearing loss of all severities, alongside environmental and/or monogenic causes.

Objective: To examine the association between a PRS for adult hearing loss and childhood hearing loss phenotypes.

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Spatial selective auditory attention is preserved in older age but is degraded by peripheral hearing loss.

Sci Rep

October 2024

Department of Speech Hearing and Phonetic Sciences, Division of Psychology and Language Sciences, University College London, Chandler House, 2 Wakefield Street, London, WC1N 3PF, UK.

Interest in how ageing affects attention is long-standing, although interactions between sensory and attentional processing in older age are not fully understood. Here, we examined interactions between peripheral hearing and selective attention in a spatialised cocktail party listening paradigm, in which three talkers spoke different sentences simultaneously and participants were asked to report the sentence spoken by a talker at a particular location. By comparing a sample of older (N = 61; age = 55-80 years) and younger (N = 58; age = 18-35 years) adults, we show that, as a group, older adults benefit as much as younger adults from preparatory spatial attention.

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Objective: This study evaluates how health care professionals manage trismus in Australia and identifies facilitators and barriers experienced by clinicians in routine patient care.

Methods: A mixed-methods approach was used to evaluate the experience of clinicians. Medical, nursing, and allied health practitioners in Australia were invited to participate if they had treated patients with trismus in the last 5 years.

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Introduction: Musicality is an innate capability and the fundamental architectures necessary for music processing are present from birth. However, there is a notable gap in pediatric specific music neuroscience research and research that employs ecologically valid musical stimuli.

Methods: This pragmatic feasibility study aimed to assess the utility of EEG collected via pre-existing clinical monitoring to describe the processing of familiar song as an ecologically valid stimulus, in the underrepresented pediatric population.

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Article Synopsis
  • The study focuses on how otolaryngologists approach testing for congenital sensorineural hearing loss, specifically looking at cCMV infection and genetic testing methods.
  • A survey of 20 otolaryngologists showed that 90% use cCMV and genetic tests, with 95% applying cCMV testing in their practices, and many pursue broader genetic screening if initial tests return negative.
  • The findings also highlight reimbursement rates for these tests, revealing that a majority of respondents receive coverage for cCMV, genetic variant testing, and wider genetic screening.
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Encephalitis lethargica, an epidemic neurological illness, typically involved a severe sleep disorder and progressive parkinsonism. A century later, our understanding relies on seminal descriptions, more recent historical research and the study of small numbers of possible sporadic cases. Theories around infection, environmental toxins, catatonia and autoimmune encephalitis have been proposed.

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Patient-reported outcomes in Irish adolescents who were born with cleft lip and palate.

Surgeon

October 2024

Department of Plastic & Reconstructive Surgery, Children's Health Ireland at Crumlin, Ireland; Dublin Cleft Centre, Children's Health Ireland at Crumlin, Ireland; Department of Paediatrics Trinity College Dublin, Ireland; Royal College of Surgeons, Ireland. Electronic address:

Background & Purpose: Cleft Lip and/or Palate, which affects approximately 1:650 live births in Ireland, is a complex congenital condition with lifelong implications. It can affect upper airway function, feeding, hearing, speech development, dental development as well as oral functioning, facial growth and physical appearance. Within cleft surgery, rigorous audit of speech, facial growth and nasolabial aesthetic outcomes is well-established.

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In face-to-face contexts, discourse is accompanied by various cues, like gestures and mouth movements. Here, we asked whether the presence of gestures and mouth movements benefits discourse comprehension under clear and challenging listening conditions and, if so, whether this multimodal benefit depends on the communicative environment in which interlocutors are situated. In two online experiments, participants watched videoclips of a speaker telling stories, and they answered yes-no questions about the content of each story.

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Article Synopsis
  • The study investigates how abstract and concrete concepts are processed in the brain, highlighting the "concreteness effect" where concrete words are understood faster and more accurately than abstract words.
  • Researchers establish a connection between phonological features of words and their concreteness ratings, finding that specific attributes like syllable count and phonological neighbors play a role.
  • Results show that these phonological features significantly affect lexical processing across various language tasks, suggesting that models of language processing should consider the non-arbitrary relationship between word form and meaning.
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Objective: To determine whether children born with a cleft palate ± lip (CP ± L) and additional congenital differences (ACDs - including 'Congenital malformations and deformations' as coded in ICD-10), are less likely to meet the three national speech outcome standards at age five compared to children with CP ± L and no ACDs.

Design: An observational study, utilizing national data from the UK Cleft Registry and Audit NEtwork (CRANE) Database linked to national administrative data of hospital admissions.

Setting: National Health Service, England.

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Article Synopsis
  • Radiation therapy for head and neck cancer can lead to radiation-associated lymphedema and fibrosis (LEF), prompting the development of the CT Lymphedema and Fibrosis Assessment Tool (CT-LEFAT) for standardized diagnosis. !* -
  • A study analyzed 26 HNC patients through qualitative CT reviews by five physicians to assess the reliability and accuracy of the CT-LEFAT criteria using statistical methods like Fleiss' kappa and ROC AUC analysis. !* -
  • Results showed slight to fair inter-rater reliability and moderate intra-observer agreement, indicating that the CT-LEFAT may need further improvement and training before it can be effectively used in clinical practice for diagnosing
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