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1.
Ital J Pediatr ; 50(1): 123, 2024 Jul 02.
Article in English | MEDLINE | ID: mdl-38956699

ABSTRACT

BACKGROUND: Cortical visual impairment (CVI) is a verifiable visual dysfunction that cannot be attributed to disorders of the anterior visual pathways or any potentially co-occurring ocular impairment. Given the limited knowledge on the most effective interventions for visual impairment resulting from CVI, this case report provides valuable insights into an example of successful implementation of anti-amblyopia therapy in a patient with CVI. CASE PRESENTATION: This case report presents a 5-year-old girl with CVI secondary to hypoxic-ischemic injury, resulting in visual impairment, dyspraxia, and abnormal visual evoked potential testing. The girl did not suffer from amblyopia, there was no evidence of relevant refractive errors or strabismus, so visual pathway damage was the cause of her visual deficit. Nevertheless, the patient underwent anti-amblyopia therapy and showed significant improvement in visual acuity after 12 months of treatment. The improvement, resulting from visual stimulation, was due to a good functional recovery by a better usage of the damaged visual pathways. The therapy included prescribing corrective glasses and implementing secondary occlusion of the better eye for 4 months, which was protracted for another 4 months, leading to further improvements in visual acuity. CONCLUSIONS: The case report shows that addressing even minor refractive errors and implementing anti-amblyopia therapy can significantly improve vision in children with CVI, even without co-existing amblyopia. It also highlights the importance of early intervention and multidisciplinary rehabilitation in children with CVI, focusing on motor and cognitive skills. Additionally, it emphasizes the need for further research to establish evidence-based practice standards for improving vision in children with CVI.


Subject(s)
Amblyopia , Visual Acuity , Humans , Female , Child, Preschool , Amblyopia/therapy , Eyeglasses , Blindness, Cortical/etiology , Hypoxia-Ischemia, Brain/complications , Hypoxia-Ischemia, Brain/therapy , Evoked Potentials, Visual
2.
Explor Res Clin Soc Pharm ; 15: 100467, 2024 Sep.
Article in English | MEDLINE | ID: mdl-38983637

ABSTRACT

Background: Visual impairment can significantly affect a person's ability to take medications safely. Therefore, pharmacists need to ensure safe and effective access to medication information, particularly through the use of assistive products, which are devices that compensate for partial or total vision loss. Although assistive products are used by visually impaired patients for activities of daily living, their use in medication management needs to be more widespread. Objective: The study aimed to investigate community pharmacists' opinions and excpectations on the use of assistive products in pharmacy practice to optimize and secure medications use for visually impaired patients. The goal is to transfer these assistive products to pharmacy practice. Methods: Focus groups were conducted with 6 French-speaking community pharmacists via videoconference in Belgium, following the principle of participatory action-research. The participants were recruited voluntarily, and moderator's guides were developed to lead the discussion. The focus groups were recorded, transcribed verbatim, and analyzed in a double-blind fashion using thematic analysis. The data were organized by NVivo software. Results: Four themes were identified: easy-to-use assistive products according to pharmacists, usefulness of assistive products in pharmacy practice, barriers to the use of assistive products, and potential solutions. According to community pharmacists, certain assistive products were deemed easy-to-use and transferable to pharmacy practice. Conclusions: This qualitative study demonstrates the transferability of assistive products to pharmacy practice for visually impaired patients in medications use. The study taken into account the patient's profile and the multidisciplinary approach, which community pharmacists consider essential.

3.
Syst Rev ; 13(1): 173, 2024 Jul 08.
Article in English | MEDLINE | ID: mdl-38978122

ABSTRACT

BACKGROUND: Giant cell arteritis (GCA) is the most common systemic vasculitis in adults. Presenting features include new-onset headaches, constitutional symptoms, jaw claudication, polymyalgia rheumatica, and visual symptoms. Arterial inflammation with subsequent stenosis and occlusion may cause tissue ischemia, leading to blindness, strokes, and myocardial infarction. Oral antiplatelet therapy has been hypothesized to reduce GCA-related ischemic events. However, previous studies have demonstrated conflicting results regarding the efficacy of antiplatelet agents in GCA. The objective of this systematic review is to assess the safety and efficacy of antiplatelet therapy for the prevention of these events in adults with giant cell arteritis. METHODS: In this systematic review, we will include randomized controlled trials (RTCs), quasi-randomized trials, non-randomized intervention studies, cohort studies, and case-control studies on patients with new-onset or relapsing GCA. The intervention of interest will be pre-existing use or initiation of an oral antiplatelet medication (aspirin, clopidogrel, prasugrel, or ticagrelor) at GCA onset or relapse. The comparator of interest will be the absence of antiplatelet therapy. Endpoints will be evaluated after 6 and 12 months of follow-up. The primary outcome will be GCA-related ischemic events, including permanent blindness, stroke, myocardial infarction, and ischemic event-related deaths. Adverse events such as major bleeding and death caused by a bleeding event will be assessed. DISCUSSION: GCA-related ischemic events are catastrophic, sudden, often irreversible, and lead to significant morbidity. Antiplatelet agents are affordable, accessible, and could be effective for the prevention of these events. Nevertheless, the potential benefits of platelet aggregation inhibition must be weighed against their associated risk of bleeding. Assessing the efficacy and safety of antiplatelet therapy in GCA is therefore clinically important. SYSTEMATIC REVIEW REGISTRATION: Our systematic review protocol was registered with the International Prospective Register of Systematic Reviews (PROSPERO, registration number CRD42023441574.


Subject(s)
Giant Cell Arteritis , Platelet Aggregation Inhibitors , Systematic Reviews as Topic , Humans , Giant Cell Arteritis/drug therapy , Platelet Aggregation Inhibitors/therapeutic use , Meta-Analysis as Topic , Ischemia/prevention & control , Myocardial Infarction/prevention & control
4.
Afr J Disabil ; 13: 1314, 2024.
Article in English | MEDLINE | ID: mdl-38962746

ABSTRACT

Background: Hearing-impaired learners with refractive problems require correction because poor vision hinders their development and educational pursuits. Objectives: To determine the level of compliance with spectacle wear in learners with hearing impairment in Ghana. Method: A descriptive cross-sectional study design was used to investigate the level of compliance with spectacle wear in hearing-impaired learners with uncorrected refractive errors (URE). The participants were from six schools for the hearing impaired, comprising three schools from each sector (Northern and Southern) of Ghana. Results: Of the 1914 learners screened, 69 (3.61% CI: 2.82-4.54%) had URE. Sixty-two (89.9%) learners with URE had myopia (-0.50 Dioptre Sphere (DS) to -2.00DS), and 7 (10.1%) had hyperopia (+2.00DS to +10.00DS). There were more females (53.6%) with URE than males, and their ages ranged from 8 to 35 years, with a mean of 17.35 ± 5.19 years. Many (56.5%) learners complied with spectacle wear after 3 months of reassessment, with females being more compliant than males, but the difference was not significant (p = 0.544). Learners who complied well with the spectacle wear were those with moderate visual impairment (VI), followed by mild VI, while those with no VI were the least compliant. A significant difference was observed between spectacle compliance and presenting VI (p = 0.023). Conclusion: The spectacle wear compliance level was high compared to a previous study (33.7%) in Ghana. Contribution: This study highlights the importance of addressing URE among learners with hearing impairment in Ghana and Africa.

5.
Eur J Sport Sci ; 24(7): 918-929, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38956797

ABSTRACT

Sports performance is relatively robust under high levels of binocular blur. However, the limited research studies investigating monocular impairments has shown it has a larger impact on sport performance. This research study is relevant for classification in sports for athletes with vision impairment (VI), where visual acuity (VA) from the better eye is used during classification. Across two experiments, we aimed to establish the point at which binocular and monocular impairments affected performance in a football penalty kick (PK) through simulating varying severities of degraded VA and contrast sensitivity (CS) in active football players. In experiment one, 25 footballers performed PKs as VA and CS were systematically decreased in both eyes, and in one condition, visual field (VF) was reduced. The most severe VA/CS condition and reduced VF significantly impacted outcome, ball velocity and placement (ball kicked closer to the centre of the goal) (p < 0.05). In experiment two, 29 different footballers performed PKs as VA and CS of only the dominant eye were systematically decreased and in one condition the dominant eye was occluded, and participants viewed their environment through the non-dominant eye (monocular viewing). No differences were observed when assessing monocular impairments influence on outcome, velocity and ball placement. PKs have a high resilience to VI, but binocular impairment has a more immediate effect, suggesting binocular measures should be used in classification processes in football.


Subject(s)
Athletic Performance , Soccer , Vision, Binocular , Visual Acuity , Humans , Soccer/physiology , Vision, Binocular/physiology , Visual Acuity/physiology , Male , Athletic Performance/physiology , Young Adult , Adult , Vision Disorders/physiopathology , Contrast Sensitivity/physiology , Vision, Monocular/physiology , Visual Fields/physiology
6.
Front Endocrinol (Lausanne) ; 15: 1413810, 2024.
Article in English | MEDLINE | ID: mdl-38952395

ABSTRACT

Rathke's cleft cysts (RCC) are a common type of lesion found in the sellar or suprasellar area. They are usually monitored clinically, but in some cases, surgery may be required. However, their natural progression is not yet well understood, and the outcomes of surgery are uncertain. The objective of this study is to evaluate the natural history of Rathke's cleft cysts in patients who are clinically monitored without treatment, and to determine the outcomes of surgery and the incidence of recurrences over time. Design and patients: National multicentric study of patients diagnosed of Rathke's cleft cyst (RCC- Spain) from 2000 onwards and followed in 15 tertiary centers of Spain. A total of 177 patients diagnosed of RCC followed for 67.3 months (6-215) and 88 patients who underwent surgery, (81 patients underwent immediate surgery after diagnosis and 7 later for subsequent growth) followed for 68.8 months (3-235). Results: The cyst size remained stable or decreased in 73.5% (133) of the patients. Only 44 patients (24.3%) experienced a cyst increase and 9 of them (5.1%) experienced an increase greater than 3 mm. In most of the patients who underwent surgery headaches and visual alterations improved, recurrence was observed in 8 (9.1%) after a median time of 96 months, and no predictors of recurrence were discovered. Conclusions: Rathke's cleft cysts without initial compressive symptoms have a low probability of growth, so conservative management is recommended. Patients who undergo transsphenoidal surgery experience rapid clinical improvement, and recurrences are infrequent. However, they can occur after a long period of time, although no predictors of recurrence have been identified.


Subject(s)
Central Nervous System Cysts , Humans , Central Nervous System Cysts/surgery , Central Nervous System Cysts/pathology , Female , Male , Spain/epidemiology , Adult , Middle Aged , Young Adult , Adolescent , Treatment Outcome , Aged , Pituitary Neoplasms/surgery , Pituitary Neoplasms/pathology , Disease Progression , Follow-Up Studies , Neoplasm Recurrence, Local/surgery , Neoplasm Recurrence, Local/epidemiology , Neoplasm Recurrence, Local/pathology , Child
7.
Am J Ophthalmol ; 2024 Jul 04.
Article in English | MEDLINE | ID: mdl-38971319

ABSTRACT

PURPOSE: To evaluate whether geocoded social risk factor data predict the development of severe visual impairment or blindness due to glaucoma during follow-up using a large electronic health record (EHR) database. DESIGN: Cohort study. METHODS: Patients diagnosed with open-angle glaucoma (OAG) at a tertiary care institution. All eyes had glaucomatous visual field defects at baseline. Sociodemographic and ocular data were extracted from EHR, including age, gender, self-reported race and ethnicity, insurance status, OAG type, prior glaucoma laser or surgery, baseline disease severity using Hodapp-Anderson-Parrish criteria, mean intraocular pressure (IOP) during follow-up, and central corneal thickness. Social vulnerability index (SVIndex) data at the census tract level were obtained using geocoded patient residences. Mixed-effects Cox proportional hazard models were completed to assess for the development of severe visual impairment or blindness during follow-up, defined as BCVA ≤20/200 at the last two clinic visits or standard automated perimetry (SAP) mean deviation (MD) ≤-22dB confirmed on two tests. RESULTS: A total of 4,046 eyes from 2,826 patients met inclusion criteria and were followed for an average of 4.3±2.2 years. Severe visual impairment or blindness developed in 79 eyes (2.0%) from 76 patients (2.7%) after an average of 3.4±1.8 years, leading to an incidence rate of severe visual impairment or blindness of 0.5% per year. Older age (adjusted hazards ratio (HR) 1.36 per decade, p=0.007), residence in areas with higher SVIndex (HR 1.56 per 25% increase, p<0.001), higher IOP during follow-up (HR 3.01 per 5 mmHg increase, p<0.001), and moderate or severe glaucoma at baseline (HR 7.31 and 26.87, p<0.001) were risk factors for developing severe visual impairment or blindness. Concordance index of the model was 0.87. Socioeconomic, minority status/language, and housing type/transportation SVIndex themes were key contributors to developing severe visual impairment or blindness. CONCLUSIONS: Risk factors for developing glaucoma-related severe visual impairment or blindness included older age, elevated IOP during follow-up, moderate or severe disease at baseline, and residence in areas associated with greater social vulnerability. In addition to ocular risk factors, geocoded EHR data regarding social risk factors could help identify patients at high risk of developing glaucoma-related visual impairment.

8.
Sensors (Basel) ; 24(11)2024 Jun 04.
Article in English | MEDLINE | ID: mdl-38894436

ABSTRACT

This study presents a novel computational radio frequency identification (RFID) system designed specifically for assisting blind individuals, utilising software-defined radio (SDR) with coherent detection. The system employs battery-less ultra-high-frequency (UHF) tag arrays in Gen2 RFID systems, enhancing the transmission of sensed information beyond standard identification bits. Our method uses an SDR reader to efficiently manage multiple tags with Gen2 preambles implemented on a single transceiver card. The results highlight the system's real-time capability to detect movements and direction of walking within a four-meter range, indicating significant advances in contactless activity monitoring. This system not only handles the complexities of multiple tag scenarios but also delineates the influence of system parameters on RFID operational efficiency. This study contributes to assistive technology, provides a platform for future advancements aimed at addressing contemporary limitations in pseudo-localisation, and offers a practical, affordable assistance system for blind individuals.

9.
Article in English | MEDLINE | ID: mdl-38888805

ABSTRACT

PURPOSE: Little is known about the utilization of low vision services (LVS) in Germany. To understand which persons and how often these services would be utilized, this study aimed to investigate low vision aids (LVAs) provision in an urban setting and to describe user characteristics and trends in their characteristics. METHODS: A retrospective study based on a population-based healthcare claims database in Cologne (N = ~ 500,000), Germany. The study population comprised individuals, who were continuously insured at four large statutory health insurers and who redeemed a prescription for visual aids or aids for blindness between January 2014 and December 2017. We examined their socio-demographic and clinical characteristics. Trends in characteristics were examined with logistic and linear regression models over time. RESULTS: Out of ~ 500,000 persons, 781 unique individuals (~ 0.2%) redeemed an LVA prescription. They were mainly female (68.7%), 60 years or older (75.3%) and had macular degeneration (50.6%) and/or glaucoma (25.9%). In the working-age subgroup, 33.8% were employed. Visual aids were most often prescribed (74.1%) and of all types of LVAs, individuals most commonly redeemed a prescription for magnifiers (35.8%), screen readers (34.3%) and/or canes (17.1%). Of the entire study population, 75.4% received their prescription from an ophthalmologist, 5.3% from a general practitioner and 7.1% from other medical specialists. Significant trends in characteristics of individuals who redeemed an LVA prescription were not found. CONCLUSIONS: Between 2014 and 2017, 781 individuals in Cologne redeemed an LVA prescription. They had characteristics which mostly can be explained by the epidemiology of VI. Results indicate that individuals that redeemed LVAs have a magnification requirement of ≥ 1.5-fold and ≥ 6-fold. Furthermore, next to ophthalmologists, general practitioners and other medical specialists seem to play a role in LVA provision as well, which should be taken into account by policy makers when planning interventions for increasing LVS provision. Our findings provide a starting point to examine LVS provision in Germany.

10.
Heliyon ; 10(11): e31825, 2024 Jun 15.
Article in English | MEDLINE | ID: mdl-38841448

ABSTRACT

Background: This review explores the evolutionary trajectory of navigation assistance tools tailored for the visually impaired, spanning from traditional aids like white canes to contemporary electronic devices. It underlines their pivotal role in fostering safe mobility for visually impaired individuals. Objectives: The primary aim is to categorize and assess the plethora of navigation assistance solutions available. Emphasis is placed on technological advancements, particularly in electronic systems employing sensors, AI, and feedback mechanisms. Furthermore, the review underscores the emerging influence of smartphone-based solutions and navigation satellite systems in augmenting independence and quality of life for the visually impaired. Methods: Navigation assistance solutions are segmented into four key categories: Visual Imagery Systems, Non-Visual Data Systems, Map-Based Solutions, and 3D Sound Systems. The integration of diverse sensors like Ultrasonic Sensors and LiDAR for obstacle detection and real-time feedback is scrutinized. Additionally, the fusion of smartphone technology with sensors to deliver location-based assistance is explored. The review also evaluates the functionality, efficacy, and cost-efficiency of navigation satellite systems. Results: Results indicate a significant evolution in navigation aids, with modern electronic systems proving highly effective in aiding obstacle detection and safe navigation. The convenience and portability of smartphone-based solutions are underscored, along with the potential of navigation satellite systems to enhance navigation assistance. Conclusions: In conclusion, the review advocates for continued innovation and technological integration in navigation tools to empower visually impaired individuals with increased independence and safe access to their surroundings. It accentuates the imperative of ongoing efforts to enhance the quality of life for those with visual impairments through futuristic technological solutions.

11.
Res Dev Disabil ; 151: 104767, 2024 Jun 10.
Article in English | MEDLINE | ID: mdl-38861794

ABSTRACT

Visual search problems are often reported in children with Cerebral Visual Impairment (CVI). To tackle the clinical challenge of objectively differentiating CVI from other neurodevelopmental disorders, we developed a novel test battery. Visual search tasks were coupled with verbal and gaze-based measurements. Two search tasks were performed by children with CVI (n: 22; mean age (SD): 9.63 (.46) years) ADHD (n: 32; mean age (SD): 10.51 (.25) years), dyslexia (n: 28; mean age (SD): 10.29 (.20) years) and neurotypical development (n: 44; mean age (SD): 9.30 (.30) years). Children with CVI had more impaired search performance compared to all other groups, especially in crowded and unstructured displays and even when they had normal visual acuity. In-depth gaze-based analyses revealed that this group searched in overall larger areas and needed more time to recognize a target, particularly after their initial fixation on the target. Our gaze-based approach to visual search offers new insights into the distinct search patterns and behaviours of children with CVI. Their tendency to overlook targets whilst fixating on it, point towards higher-order visual function (HOVF) deficits. The novel method is feasible, valid, and promising for clinical differential-diagnostic evaluation between CVI, ADHD and dyslexia, and for informing individualized training.

12.
BMC Ophthalmol ; 24(1): 239, 2024 Jun 07.
Article in English | MEDLINE | ID: mdl-38849757

ABSTRACT

BACKGROUND: Functional visual impairments in children are primarily caused by amblyopia or strabismus. This study aimed to determine the prevalence and clinical profile of amblyopia and strabismus among individuals aged 3-16 years in Shanghai, China. METHODS: From February 2023 to February 2024, this hospital-based, cross-sectional study included data of children who visited the Ophthalmology Department of Shanghai General Hospital. Comprehensive ocular examinations included visual acuity measurement after cycloplegic refraction, slit lamp examination, cover test, and dilated fundus examination. Descriptive statistics were performed to estimate the proportion and clinical characteristics of amblyopia and strabismus. RESULTS: A total of 920 children were enrolled in our study. Among them, 223 (24.24%) children were identified as amblyopia. Unilateral amblyopia occupied 57.85%, and bilateral amblyopia occupied 42.15%. Most participants were within the age range of 5-10 years (75.97% for unilateral amblyopia, and 70.21% for bilateral amblyopia). Anisometropia was the primary cause of unilateral amblyopia (68.99%). Most amblyopic children have high hyperopia (38.76% for unilateral amblyopia, and 39.89% for bilateral amblyopia). 30 (3.26%) children were diagnosed with strabismus, and 19 (63.3%) of them were aged 5-10 years. Seven of the children had both strabismus and amblyopia. CONCLUSION: The proportion of patients with amblyopia and strabismus was determined as 24.24% and 3.26% in our study. Anisometropia was the leading cause of unilateral amblyopia, whereas high hyperopia was a crucial refractive error in the amblyopic population. These findings shed light on further longitudinal studies targeting the age-related changes in amblyopia, strabismus and refraction errors. Therefore, efforts should be made to manage uncorrected refractive errors, amblyopia, and strabismus among children in Shanghai.


Subject(s)
Amblyopia , Refractive Errors , Strabismus , Visual Acuity , Humans , Amblyopia/epidemiology , Amblyopia/physiopathology , Amblyopia/diagnosis , China/epidemiology , Prevalence , Cross-Sectional Studies , Child , Child, Preschool , Adolescent , Female , Male , Strabismus/epidemiology , Strabismus/physiopathology , Refractive Errors/epidemiology , Refractive Errors/physiopathology , Visual Acuity/physiology , Age Distribution , Refraction, Ocular/physiology
13.
Acta Psychol (Amst) ; 248: 104375, 2024 Jun 22.
Article in English | MEDLINE | ID: mdl-38909395

ABSTRACT

Physical activity and sports can be considered important sources of motivation for people with visual impairments; however limited attention has been given to blind peoples' involvement in sports and to the intra-personal variables such as self-esteem and motivation that affect their sport participation. The purpose of the present study was a) to explore the relationship between self-esteem and intrinsic motivation in blind athletes, and b) to assess the levels of self-esteem and intrinsic motivation and identify differences in intrinsic motivation and self-esteem as a function of gender and sport type (individual-team sports). Participants were 78 (27 females) Greek blind athletes (30.29 ± 1.18 years of age) competing in team (N = 44) and individual (N = 34) sports. Participants completed the Intrinsic Motivation Inventory questionnaire (IMI) and Rosenberg Self-Esteem Scale (RSES) questionnaire. The findings revealed that high values on self-esteem could predict blind athletes' perceived competence (p = .001) and strengthen their intrinsic motivation while enabling them to regulate pressure and tension (p < .05). However, female athletes appeared to be more pressured than males (p < .05), and interestingly, team sport athletes scored higher in intrinsic motivation than individual sports athletes (p < .05). The findings provide useful insights regarding the role of self-esteem in blind athletes' motivational profiles and draw attention to the role of perceived competence in blind athletes' sporting experiences, emphasizing that team sport context may serve as a fertile ground for enhancing intrinsic motivation.

14.
JMIR Rehabil Assist Technol ; 11: e59315, 2024 Jun 12.
Article in English | MEDLINE | ID: mdl-38865701

ABSTRACT

BACKGROUND: People with intellectual and sensory or sensory-motor disabilities tend to have problems performing multistep tasks. To alleviate their problems, technological solutions have been developed that provide task-step instructions. Instructions are generally delivered at people's request (eg, as they touch an area of a computer or tablet screen) or automatically, at preset intervals. OBJECTIVE: This study carried out a preliminary assessment of a new tablet-based technology system that presented task-step instructions when participants with intellectual and sensory disabilities walked close to the tablet (ie, did not require participants to perform fine motor responses on the tablet screen). METHODS: The system entailed a tablet and a wireless camera and was programmed to present instructions when participants approached the tablet, that is, when the camera positioned in front of the tablet detected them. Two instructions were available for each task step. One instruction concerned the object(s) that the participants were to collect, and the other instruction concerned the "where" and "how" the object(s) collected would need to be used. For 3 of the six participants, the two instructions were presented in succession, with the second instruction presented once the required object(s) had been collected. For the other 3 participants, the two instructions were presented simultaneously. Instructions consisted of pictorial representations combined with brief verbal phrases. The impact of the system was assessed for each of the 2 groups of participants using a nonconcurrent multiple baseline design across individuals. RESULTS: All participants were successful in using the system. Their mean frequency of correct task steps was close to or above 11.5 for tasks including 12 steps. Their level of correct performance tended to be much lower during the baseline phase when they were to receive the task-step instructions from a regular tablet through scrolling responses. CONCLUSIONS: The findings, which need to be interpreted with caution given the preliminary nature of the study, suggest that the new tablet-based technology system might be useful for helping people with intellectual and sensory disabilities perform multistep tasks.

15.
Ther Adv Rare Dis ; 18: 26330040241249762, 2024.
Article in English | MEDLINE | ID: mdl-38911512

ABSTRACT

Existing clinical tools that measure non-seizure outcomes lack the range and granularity needed to capture skills in developmental and epileptic encephalopathy (DEE)-affected individuals who also fall in the severe to profound range of intellectual disability. This effectively excludes those with severe impairments from clinical trials, impeding the ability of sponsors to evaluate disease-modifying therapies (DMTs). The Inchstone Project, an international, patient advocate-led collaboration, brings together leading researchers, clinicians, pharmaceutical companies, and advocates to develop an adapted, validated assessment battery within 5 years. The goal is to support trials of DMTs for the DEEs by providing sufficiently sensitive measurement tools to demonstrate therapeutic efficacy. An initial pilot study administered 7 established assessments to 10 individuals affected by SCN2A-DEE, identifying specific limitations of existing measures and areas for improvement. It was clear that most tools do not account for challenges throughout the DEE population, including vision impairments, significant motor impairments and profound intellectual disability, which need to be accounted for in creating a 'fit-for-purpose' battery for the DEE population. Several novel assessments, including two measures of responsivity developed for use in monitoring recovery after acquired brain injury as well as individualized Goal Attainment Scaling, showed promise in this group. The team also completed a DEE-wide survey with over 270 caregivers documenting their children's abilities and priorities for their improvement from new treatments. The Inchstone team is using this information to evaluate how existing tools might be updated to better capture what is most important to families and measure their child's small but important improvements over time. These efforts are building a coherent picture across multiple DEEs of what domains, or concepts of interest, have the greatest impact on most patients and families. The Inchstone team is on course to adapt non-seizure outcome measures that are (1) sufficiently sensitive to measure small increments of meaningful change ('Inchstones') and (2) applicable to multiple DEE conditions.


DEE-P Connection's Inchstone project is adapting assessment tools to measure the smallest developmental changes in those affected by developmental and epileptic encephalopathies (DEEs) - severe epilepsy and related developmental disorders. More sensitive measures will allow profoundly impacted individuals to be effectively included in clinical trials and result in better DEE treatments. Caregivers of children with DEEs understand firsthand that clinical tools intended to measure non-seizure outcomes, like communication and motor skills, were not designed for and don't work for their children. More sensitive tools are needed to measure the small changes that occur in DEEs. The limitations of existing measurement tools for DEEs have significant consequences: - Non-seizure responses to new therapies cannot be measured without tools designed specifically for individuals with severe to profound intellectual disability.- If a response cannot be measured in a trial, a potentially beneficial impact will be missed and a therapy, having failed to demonstrate an effect, may not gain regulatory approval.- DEE-affected individuals are less likely to benefit from the wave of new disease-modifying therapies providing hope for many other rare genetic diseases. DEE-P Connections, a patient advocacy organization supporting families caring for those severely affected by DEEs, launched The Inchstone Project to address this problem. This team science research collaborative unites researchers, pharmaceutical companies, advocates and others around a shared vision of adapting existing tools to reliably capture the small but important changes in skills in those severely affected by DEEs. To better understand these gaps, the Inchstone team conducted a pilot study with 10 children with SCN2A DEE. The team administered multiple assessments to explore how to adapt the tools to better capture the abilities and growth of this population. The team also completed a comprehensive DEE-wide survey with over 270 caregivers documenting their children's abilities and priorities for their improvement from new treatments, helping to document how existing tools may be updated to better capture what's most important to families and measure their children's small but important improvements over time. The Inchstone Project is on course to assure those profoundly impacted by DEEs are meaningfully included in clinical trials by establishing trusted and reliable non-seizure measurement tools.

16.
SAGE Open Med ; 12: 20503121241236136, 2024.
Article in English | MEDLINE | ID: mdl-38826822

ABSTRACT

Background: Visual impairment is a functional limitation of the eye(s) or the visual system manifested as reduced visual acuity. At least 2.2 billion people have visual impairment worldwide, and 90% of people with visual impairment have either preventable or treatable causes with cost-effective interventions. Objectives: To assess magnitude of visual impairment and associated factors among primary school children in Ambo Town, Ethiopia, in 2021. Methods: A cross-sectional study was conducted in selected primary schools of Ambo Town. A simple random sampling technique was used to select schools and study participants. Data were collected using an interviewer-administered structured questionnaire and entered into Epidata version 3.1 for analysis by using SPSS version 23. Binary logistic regression was adopted to identify statistically significant factors which were associated with visual impairment. The Hosmer-Lemeshow test was used to evaluate how well the logistic regression model fits to the data. Results: About 780 out of 838 primary school children were enrolled in the study, yielding a response rate of 93.07%. The estimated prevalence of visual impairment was 8.8% with 95% CI: 6.81-10.79. The main risk factor for visual impairment among primary school children were Students' grade level, exposure to mobile screen, family history of visual problems, and family awareness about the status of their child's eye problems were significantly associated with visual impairments (AOR = 2.375, 95% CI: 1.079-5.226; AOR = 2.44, 95% CI: 1.401-5.01; AOR = 2.41, 95% CI: 1.071-5.42; and AOR = 4.503, 95% CI: 2.12-9.55, respectively). Conclusion: A high prevalence of visual impairment was observed among primary school children. Attending higher grades, being exposed to mobile screen, and having a family history of visual problems were significantly associated with visual impairment.

17.
J Int Soc Prev Community Dent ; 14(2): 144-151, 2024.
Article in English | MEDLINE | ID: mdl-38827353

ABSTRACT

Background: Dental caries and an impairment in visual acuity (VA) may both be caused by a variety of risk factors. Various conditions of the eye can appear as a consequence of overall inflammation and active dental caries. Aim: The present study aims to assess dental caries and salivary status by measuring the transforming growth factor beta-1 (TGF-ß1) and flow rate between visually impaired students compared with students with normal vision. Materials and Methods: Research was performed employing a cross-sectional comparative study design conducted among representative 653 students aged 8-10 years at primary schools in Al-Diwaniyah governorate using the Snellen E chart for measuring VA status. Partitioning the students according to the degree of VA into normal students with normal VA of 6/9 or better and students with visual impairment of 6/12 or worse was done. Sub-sample of 180 students was recruited randomly from both groups, age and gender-matched participants for salivary analysis, and dental caries assessment measured by decay, missed, filled index, according to the World Health Organization in 2013. Results: Out of 653 students, only 70 students suffer from a decrease in VA. Dental caries was more prevalent in those who had a decrease in VA compared with normal groups. For primary teeth decay, missed, filled teeth index (DMFT/dmft), the result was not significant but highly significant for DMFT/dmft. A significant decrease in salivary flow rate and increased salivary TGF-ß1 level among visually impaired students was found. Conclusions: According to the current research, the study population that has impaired VA, dental health status has greatly deteriorated.

18.
BMC Public Health ; 24(1): 1599, 2024 Jun 14.
Article in English | MEDLINE | ID: mdl-38877430

ABSTRACT

This study aims to analyze variables related to patient activation in 78 individuals with visual impairment. The Patient Activation Measure (PAM) scores of participants showed no differences between males and females. It was found that the individuals living in urban areas, and participants with higher income and education levels had higher PAM scores. Still, the difference between the groups was statistically insignificant (p > 0.05). The PAM scores of the visually impaired individuals reflect taking action level of activation (66.51 ± 18.14-PAM level 3). There was a moderately significant relationship between PAM scores and visually impaired individuals' self-management, self-efficacy, healthy life awareness, social relations, and environment (p < 0.001). We found that the variables included in the regression model (marital status, self-management, self-efficacy, healthy life awareness, social relations, and environment) explained 72.2% of the PAM score. Individuals with visual impairment can be given training on self-management, self-efficacy, healthy life awareness, and quality of life associated with social relations and environment to develop positive health behaviors.


Subject(s)
Self Efficacy , Vision Disorders , Humans , Male , Female , Middle Aged , Adult , Vision Disorders/psychology , Patient Participation/statistics & numerical data , Patient Participation/psychology , Aged , Quality of Life , Young Adult , Surveys and Questionnaires
19.
Ophthalmic Epidemiol ; : 1-19, 2024 Jun 12.
Article in English | MEDLINE | ID: mdl-38865606

ABSTRACT

PURPOSE: Amidst the global aging population and an increasing prevalence of visual impairment across all age groups, this study aims to investigate the current state of research on sleep health in visually impaired populations. METHODS: A scoping review was conducted to synthesize the existing literature on sleep health and visual impairment. We employed conceptual mapping to identify key research topics, analyzing data from four databases: PubMed (n = 290), CINAHL (n = 81), Scopus (n = 117), and PsycInfo (n = 96). A total of 83 peer-reviewed articles, published from 1977 to August 2023, were included in the review. RESULTS: Our analysis identified 11 distinct eye health conditions including blindness, glaucoma, diabetic retinopathy, low vision, cataract, retinitis pigmentosa, macular degeneration, optic neuropathy, visual field defects, ocular hypertension, and retinal vein occlusion. Additionally, 8 major sleep problems were recognized: abnormal sleep duration, daytime sleepiness, insomnia, Non-24-Hour Sleep Wake Disorder, sleep apnea, sleep disorders, sleep disturbances, and sleep disordered breathing. The dominant research themes were (1) poor sleep quality in individuals with visual impairments and ophthalmic diseases, (2) high prevalence of sleep issues in patients with ophthalmic diseases, (3) sleep apnea in patients with ophthalmic conditions, and (4) circadian rhythm disruptions in blind individuals. CONCLUSION: This review highlights research gaps that, when addressed, could greatly enhance our comprehension of the interplay between visual impairment and sleep health. Bridging these gaps promises to lead to more holistic care strategies, potentially improving vision functioning and rehabilitation outcomes for individuals with visual impairments.

20.
Article in English | MEDLINE | ID: mdl-38907811

ABSTRACT

PURPOSE OF REVIEW: To review the literature on visual dysfunction in dementia with Lewy bodies (DLB), including its mechanisms and clinical implications. RECENT FINDINGS: Recent studies have explored novel aspects of visual dysfunction in DLB, including visual texture agnosia, mental rotation of 3-dimensional drawn objects, and reading fragmented letters. Recent studies have shown parietal and occipital hypoperfusion correlating with impaired visuoconstruction performance. While visual dysfunction in clinically manifest DLB is well recognized, recent work has focused on prodromal or mild cognitive impairment (MCI) due to Lewy body pathology with mixed results. Advances in retinal imaging have recently led to the identification of abnormalities such as parafoveal thinning in DLB. Patients with DLB experience impairment in color perception, form and object identification, space and motion perception, visuoconstruction tasks, and illusions in association with visual cortex and network dysfunction. These symptoms are associated with visual hallucinations, driving impairment, falls, and other negative outcomes.

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