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Journal of Medical Genetics May 2024Speech and language impairments are core features of the neurodevelopmental genetic condition Kleefstra syndrome. Communication has not been systematically examined to...
OBJECTIVES
Speech and language impairments are core features of the neurodevelopmental genetic condition Kleefstra syndrome. Communication has not been systematically examined to guide intervention recommendations. We define the speech, language and cognitive phenotypic spectrum in a large cohort of individuals with Kleefstra syndrome.
METHOD
103 individuals with Kleefstra syndrome (40 males, median age 9.5 years, range 1-43 years) with pathogenic variants (52 9q34.3 deletions, 50 intragenic variants, 1 balanced translocation) were included. Speech, language and non-verbal communication were assessed. Cognitive, health and neurodevelopmental data were obtained.
RESULTS
The cognitive spectrum ranged from average intelligence (12/79, 15%) to severe intellectual disability (12/79, 15%). Language ability also ranged from average intelligence (10/90, 11%) to severe intellectual disability (53/90, 59%). Speech disorders occurred in 48/49 (98%) verbal individuals and even occurred alongside average language and cognition. Developmental regression occurred in 11/80 (14%) individuals across motor, language and psychosocial domains. Communication aids, such as sign and speech-generating devices, were crucial for 61/103 (59%) individuals including those who were minimally verbal, had a speech disorder or following regression.
CONCLUSIONS
The speech, language and cognitive profile of Kleefstra syndrome is broad, ranging from severe impairment to average ability. Genotype and age do not explain the phenotypic variability. Early access to communication aids may improve communication and quality of life.
Topics: Humans; Male; Intellectual Disability; Child; Chromosome Deletion; Phenotype; Adolescent; Female; Adult; Child, Preschool; Chromosomes, Human, Pair 9; Young Adult; Cognition; Infant; Craniofacial Abnormalities; Speech; Speech Disorders; Language; Intelligence; Language Disorders; Heart Defects, Congenital
PubMed: 38290825
DOI: 10.1136/jmg-2023-109702 -
Journal of Deaf Studies and Deaf... Jun 2024The deaf population of Martha's Vineyard has fascinated scholars for more than a century since Alexander Graham Bell's research on the frequent occurrence of deafness...
The deaf population of Martha's Vineyard has fascinated scholars for more than a century since Alexander Graham Bell's research on the frequent occurrence of deafness there and since Groce's book on the island's signing community (Groce, N. E. (1985). Everyone here spoke sign language: Hereditary deafness on Martha's Vineyard. Cambridge, MA: Harvard University Press.). In Groce's work, and in that of subsequent scholars, the Vineyard signing community has often been portrayed as remote and outlying, having developed independently of mainland signing communities for roughly 133 years until 1825. We re-examine that interpretation in light of historical, demographic, and genealogical evidence covering the period 1692-2008. We argue that the Vineyard signing community began in Chilmark in 1785, 93 years later than previously thought, and that it had had a brief period of independent development, roughly 40 years, before becoming well connected, through deaf education, to the nascent New England signing community. We consider the implications of the Vineyard community's history for our understanding of how village signing communities develop.
Topics: Humans; History, 19th Century; History, 18th Century; Sign Language; History, 17th Century; Deafness; History, 21st Century; Demography; History, 20th Century; Persons With Hearing Impairments
PubMed: 38287681
DOI: 10.1093/deafed/enad058 -
Sensors (Basel, Switzerland) Jan 2024Sign language is designed as a natural communication method to convey messages among the deaf community. In the study of sign language recognition through wearable...
Sign language is designed as a natural communication method to convey messages among the deaf community. In the study of sign language recognition through wearable sensors, the data sources are limited, and the data acquisition process is complex. This research aims to collect an American sign language dataset with a wearable inertial motion capture system and realize the recognition and end-to-end translation of sign language sentences with deep learning models. In this work, a dataset consisting of 300 commonly used sentences is gathered from 3 volunteers. In the design of the recognition network, the model mainly consists of three layers: convolutional neural network, bi-directional long short-term memory, and connectionist temporal classification. The model achieves accuracy rates of 99.07% in word-level evaluation and 97.34% in sentence-level evaluation. In the design of the translation network, the encoder-decoder structured model is mainly based on long short-term memory with global attention. The word error rate of end-to-end translation is 16.63%. The proposed method has the potential to recognize more sign language sentences with reliable inertial data from the device.
Topics: Humans; United States; Sign Language; Motion Capture; Neurons; Perception; Wearable Electronic Devices
PubMed: 38257544
DOI: 10.3390/s24020453 -
Children (Basel, Switzerland) Dec 2023Hearing loss is the most common sensory deficit and one of the most common congenital abnormalities. The estimated prevalence of moderate and severe hearing loss in a... (Review)
Review
Hearing loss is the most common sensory deficit and one of the most common congenital abnormalities. The estimated prevalence of moderate and severe hearing loss in a normal newborn is 0.1-0.3%, while the prevalence is 2-4% in newborns admitted to the newborn intensive care unit. Therefore, early detection and prompt treatment are of utmost importance in preventing the unwanted sequel of hearing loss on normal language development. The problem of congenital deafness is today addressed on the one hand with hearing screening at birth, on the other with the early (at around 3 months of age) application of hearing aids or, in case of lack of benefit, by the cochlear implant. Molecular genetics, antibody tests for some viruses, and diagnostic imaging have largely contributed to an effective etiological classification. A correct diagnosis and timely fitting of hearing aids or cochlear implants is useful for deaf children. The association between congenital deafness and "mutism", with all the consequences on/the consideration that deaf mutes have had since ancient times, not only from a social point of view but also from a legislative point of view, continued until the end of the nineteenth century, with the development on one side of new methods for the rehabilitation of language and on the other of sign language. But we need to get to the last decades of the last century to have, on the one hand, the diffusion of "universal newborn hearing screening", the discovery of the genetic causes of over half of congenital deafness, and on the other hand the cochlear implants that have allowed thousands of children born deaf the development of normal speech. Below, we will analyze the evolution of the problem between deafness and deaf-mutism over the centuries, with particular attention to the nineteenth century.
PubMed: 38255364
DOI: 10.3390/children11010051 -
BMC Public Health Jan 2024In Bangladesh, seasonal influenza imposes considerable disease and economic burden, especially for those at high-risk of severe disease. The most successful approach for...
Acceptability, cost-effectiveness, and capacity of a facility-based seasonal influenza vaccination among high-risk groups: a study protocol in selected tertiary care hospitals of Bangladesh.
BACKGROUND
In Bangladesh, seasonal influenza imposes considerable disease and economic burden, especially for those at high-risk of severe disease. The most successful approach for influenza prevention is the administration of a vaccine. Many poor and middle-income nations, including Bangladesh, do not have a national strategy or program in place for seasonal influenza vaccines, despite the World Health Organization's (WHO) advice to prioritize high-risk populations. Additionally, there is a scarcity of substantial data on the cost-effectiveness of seasonal influenza vaccination in these countries. The aim of our study is to determine acceptability, health beliefs, barriers, and intention of receiving influenza vaccine among high-risk populations, assess the cost-effectiveness of implementing a facility-based seasonal influenza vaccination programme, and investigate the required capacity for a potential seasonal influenza vaccination programme.
METHODS
We will undertake this study following STROBE guidelines. We will conduct the study in inpatient and outpatient departments of three selected tertiary-level hospitals leveraging the ongoing hospital-based influenza surveillance (HBIS) platform. The study population will include the WHO-defined four high-risk groups excluding healthcare workers: children six months to eight years, pregnant women, elderly ≥ 60 years, and adults with chronic diseases. We will collect quantitative data on participants' acceptability, health beliefs, barriers, and vaccination intentions using the health belief model (HBM) from patients meeting the criteria for high-risk populations attending two public tertiary-level hospitals. In one of the two public tertiary-level hospitals, we will arrange an influenza vaccination campaign before the influenza season, where the vaccine will be offered free of cost to high-risk patients, and in the second hospital, vaccination will not be offered. Both the vaccinated and unvaccinated participants will then be followed-up once a month for one year to record any influenza-like illness, hospitalization, and death. Additional data for objective two will be collected from patients with symptoms of influenza-like illness (ILI) and severe acute respiratory infection (SARI) at one public and one private hospital to determine both direct and indirect costs associated with influenza illness. We will estimate the required number of influenza vaccines, safe injections, and total storage volume utilizing secondary data. We will use a deterministic Markov decision-analytic model to estimate the cost-effectiveness of facility-based influenza vaccination in Bangladesh.
DISCUSSION
The results of this study will enable the National Immunization Technical Advisory Group and the Ministry of Health & Family Welfare of Bangladesh to decide what steps to take to develop and implement an influenza vaccination strategy targeting high-risk populations.
TRIAL REGISTRATION
The Clinicaltrials.gov registration number is NCT05996549. The registration for the protocol version 2.0 took place in August 2023, with the initial participant being enrolled in March 2022.
Topics: Adult; Aged; Child; Female; Humans; Pregnancy; Bangladesh; Cost-Benefit Analysis; Influenza Vaccines; Influenza, Human; Seasons; Tertiary Care Centers; Vaccination; Infant; Child, Preschool; Middle Aged
PubMed: 38245668
DOI: 10.1186/s12889-024-17724-6 -
Data in Brief Feb 2024Tamil is one of the oldest existing languages, spoken by around 65 million people across India, Sri Lanka and South-East Asia. Countries such as Fiji and South Africa...
Tamil is one of the oldest existing languages, spoken by around 65 million people across India, Sri Lanka and South-East Asia. Countries such as Fiji and South Africa also have a significant population with Tamil ancestry. Tamil is a complex language and has 247 characters. A labelled dataset for Tamil Fingerspelling named TLFS23 has been created for research related to vision-based Fingerspelling translators for the Speech and hearing Impaired. The dataset would open up avenues to develop automated systems as translators and interpreters for effective communication between fingerspelling language users and non- users, using computer vision and deep learning algorithms. One thousand images representing each unique finger flexion motion for every Tamil character was collected overall constituting a large dataset with 248 classes with a total of 2,55,155 images. The images were contributed by 120 individuals from different age groups. The dataset is made publicly available at: https://data.mendeley.com/datasets/39kzs5pxmk/2.
PubMed: 38229923
DOI: 10.1016/j.dib.2023.109961 -
Journal of Multidisciplinary Healthcare 2024While the services available to deaf people in the Middle East have yet to be documented, they need improvement in several countries. The aim of this article was to...
PURPOSE
While the services available to deaf people in the Middle East have yet to be documented, they need improvement in several countries. The aim of this article was to reduce miscommunication between dentists and deaf patients through the introduction of an optional sign language course for pre-doctoral students and faculty of dentistry at King Abdulaziz University (KAUFD).
PATIENTS AND METHODS
All fourth-year pre-doctoral students were invited to participate in an Arabic sign language course. A survey with 11 multiple choice and 38 true/false questions with an "I don't know" option was distributed, both before and two weeks after the course. This survey was extensively validated and pilot-tested before distribution.
RESULTS
The response rate was 141 students (84.9%), 49 of which were males (34.8%) and 92 of which were females (65.2%). The pre-doctoral students had a higher overall knowledge score (mean 22.9±14.8) and sign language skills (11.1±1.7) after the course compared to before the course (9.8±7.1, and 3.7±3.3, respectively) (all P-value <0.001). All the pre-course individual questions had lower scores compared to the post-course questions (P-value <0.05).
CONCLUSION
Deaf people might face difficulties communicating at dental health care clinics, which may be improved by equipping dentistry providers with cultural competency training, like this course.
PubMed: 38222476
DOI: 10.2147/JMDH.S420388 -
Proceedings of the Conference on... Dec 2023Large language models (LLMs) can generate natural language texts for various domains and tasks, but their potential for clinical text mining, a domain with scarce,...
Large language models (LLMs) can generate natural language texts for various domains and tasks, but their potential for clinical text mining, a domain with scarce, sensitive, and imbalanced medical data, is under-explored. We investigate whether LLMs can augment clinical data for detecting Alzheimer's Disease (AD)-related signs and symptoms from electronic health records (EHRs), a challenging task that requires high expertise. We create a novel pragmatic taxonomy for AD sign and symptom progression based on expert knowledge and generated three datasets: (1) a gold dataset annotated by human experts on longitudinal EHRs of AD patients; (2) a silver dataset created by the data-to-label method, which labels sentences from a public EHR collection with AD-related signs and symptoms; and (3) a bronze dataset created by the label-to-data method which generates sentences with AD-related signs and symptoms based on the label definition. We train a system to detect AD-related signs and symptoms from EHRs. We find that the silver and bronze datasets improves the system performance, outperforming the system using only the gold dataset. This shows that LLMs can generate synthetic clinical data for a complex task by incorporating expert knowledge, and our label-to-data method can produce datasets that are free of sensitive information, while maintaining acceptable quality.
PubMed: 38213944
DOI: 10.18653/v1/2023.findings-emnlp.474 -
Scientific Reports Jan 2024The impact of adverse listening conditions on spoken language perception is well established, but the role of suboptimal viewing conditions on signed language processing...
The impact of adverse listening conditions on spoken language perception is well established, but the role of suboptimal viewing conditions on signed language processing is less clear. Viewing angle, i.e. the physical orientation of a perceiver relative to a signer, varies in many everyday deaf community settings for L1 signers and may impact comprehension. Further, processing from various viewing angles may be more difficult for late L2 learners of a signed language, with less variation in sign input while learning. Using a semantic decision task in a distance priming paradigm, we show that British Sign Language signers are slower and less accurate to comprehend signs shown from side viewing angles, with L2 learners in particular making disproportionately more errors when viewing signs from side angles. We also investigated how individual differences in mental rotation ability modulate processing signs from different angles. Speed and accuracy on the BSL task correlated with mental rotation ability, suggesting that signers may mentally represent signs from a frontal view, and use mental rotation to process signs from other viewing angles. Our results extend the literature on viewpoint specificity in visual recognition to linguistic stimuli. The data suggests that L2 signed language learners should maximise their exposure to diverse signed language input, both in terms of viewing angle and other difficult viewing conditions to maximise comprehension.
Topics: Humans; Sign Language; Learning; Individuality; Linguistics; Physical Examination
PubMed: 38200108
DOI: 10.1038/s41598-024-51330-1 -
BMC Endocrine Disorders Jan 2024Despite well-established guidelines to treat diabetes, many people with diabetes struggle to manage their disease. For many, this struggle is related to challenges...
BACKGROUND
Despite well-established guidelines to treat diabetes, many people with diabetes struggle to manage their disease. For many, this struggle is related to challenges achieving nutrition-related lifestyle changes. We examined how people with diabetes describe barriers to maintaining a healthy diet and considered the benefits of using a harm reduction approach to assist patients to achieve nutrition-related goals.
METHODS
This is a secondary analysis of 89 interviews conducted with adults who had type 1 or type 2 diabetes. Interviews were analyzed using a content analysis approach. Themes regarding food or diet were initially captured in a "food" node. Data in the food node were then sub-coded for this analysis, again using a content analysis approach.
RESULTS
Participants frequently used addiction language to talk about their relationship with food, at times referring to themselves as "an addict" and describing food as "their drug." Participants perceived their unhealthy food choices either as a sign of weakness or as "cheating." They also identified food's ability to comfort them and an unwillingness to change as particular challenges to sustaining a healthier diet.
CONCLUSION
Participants often described their relationship with food through an addiction lens. A harm reduction approach has been associated with positive outcomes among those with substance abuse disorder. Patient-centered communication incorporating the harm reduction model may improve the patient-clinician relationship and thus improve patient outcomes and quality-of-life while reducing health-related stigma in diabetes care. Future work should explore the effectiveness of this approach in patients with diabetes.
TRIAL REGISTRATION
Registered on ClinicalTrials.gov, NCT02792777. Registration information submitted 02/06/2016, with the registration first posted on the ClinicalTrials.gov website 08/06/2016. Data collection began on 29/04/2016.
Topics: Adult; Humans; Diabetes Mellitus, Type 2; Harm Reduction; Diet; Life Style; Food Preferences
PubMed: 38166864
DOI: 10.1186/s12902-023-01529-6