Percepção do peso corporal e dificuldades encontradas pelas pessoas com deficiência visual na aquisição, na preparação e no consumo dos alimentos / Perception of body weight and difficulties encounteredby people with visual impairment in acquiring, preparing and consuming food

Objetivo: investigar a percepção do peso corporal e as dificuldades encontradas pelas pessoas com deficiência visual na aquisição, na preparação e no consumo dos alimentos. Metodologia: estudo observacional transversal, com adultos e idosos com deficiência visual em Pelotas/RS, realizado no período de abril a maio de 2023. Foi utilizado um questionário composto de 42 itens. Os dados coletados foram analisados por análise descritiva e analítica, e apresentados como média ± desvio padrão ou percentual. Resultados: a amostra contou com 20 pessoas, predominantemente do sexo feminino e idosas. Em relação ao consumo alimentar, 50% dos participantes consomem feijão, 75% frutas e hortaliças, 50% bebidas adoçadas, biscoitos recheados e doces. Referente à percepção do peso corporal, percebeu-se que a maior parte do grupo sente que está acima do peso adequado e se sentem "insatisfeitos(as)". Sobre as dificuldades encontradas, 85% dos participantes relataram dificuldade extrema para identificar a validade dos alimentos, 70% para comprar alimentos frescos e perecíveis e 40% para usar a faca para cortar e descascar os alimentos. Conclusão: verificou-se que a maior parte do grupo sente que está acima do peso adequado e estão "insatisfeitos(as)" em relação ao peso corporal. Além disso, dependem de outra pessoa para escolher os alimentos a serem comprados, saber o prazo de validade, preparar alimentos que precisam ser porcionados, servir refeições no prato, cortar carnes, descascar vegetais e frutas, utilizar faca, entre outros. Esta dependência pode influenciar diretamente no seu consumo alimentar quando essas pessoas se encontram sozinhas, optando por consumir alimentos industrializados de fácil preparo ou prontos.

Objective: to investigate the perception of body weight and the difficulties encountered by people with visual impairments in acquiring, preparing and consuming food. Methodology: cross-sectional observational study, with adults and elderly people with visual impairment in Pelotas/RS, carried out from April to May 2023. A questionnaire composed of 42 items was used. The collected data were analyzed using descriptive and analytical analysis, and presented as mean ± standard deviation or percentage. Results: the sample included 20 people, predominantly female and elderly. Regarding food consumption, 50% of participants consume beans, 75% fruits and vegetables, 50% sweetened drinks, stuffed cookies and sweets. Regarding the perception of body weight, it was noticed that the majority of the group feels that they are overweight and feel "dissatisfied". Regarding the difficulties encountered, 85% of participants reported extreme difficulty in identifying the expiration date of food, 70% in purchasing fresh and perishable foods and 40% in using a knife to cut and peel food. Conclusion: it was found that the majority of the group feels that they are overweight and are "dissatisfied" with their body weight. Furthermore, they depend on someone else to choose the food to be purchased, know the expiration date, prepare food that needs to be portioned, serve meals on the plate, cut meat, peel vegetables and fruits, use a knife, among others. This dependence can directly influence their food consumption when these people are alone, choosing to consume easily prepared or ready-made processed foods.

Managing neurofibromatosis type I and vision impairment in a resource-limited setting: a case study and multidisciplinary approach.

Background: Neurofibromatosis type I (NF1) is a genetic disorder characterized by the development of multiple benign tumors along nerves in the skin, brain, and other parts of the body. It is associated with a range of clinical manifestations, including skin lesions, neurofibromas, and ocular abnormalities, which can significantly impact a patient's quality of life. Management of NF1 is particularly challenging in resource-limited settings due to limited access to diagnostic and therapeutic resources. Clinical presentation: A 62-year-old woman with a known history of NF1 presented with progressive visual impairment. Her condition began in childhood with multiple hyperpigmented skin macules, which developed into numerous cutaneous tumors over time. Examination revealed numerous neurofibromas, café-au-lait spots, and axillary freckling. Significant visual impairment was caused by large fibromas on her eyelids. Histological analysis confirmed benign nerve tissue tumors. Clinical discussion: The management strategy in this resource-limited setting focused on regular monitoring, patient education, symptomatic treatment, and multidisciplinary care. Despite the limitations, the patient's condition was managed effectively through these adapted strategies. The importance of genetic testing for confirmation and further management was noted but not performed due to resource constraints. Conclusion: This case highlights the complexities of managing NF1 in resource-limited settings, emphasizing the need for adaptable management approaches. Multidisciplinary care and patient education were crucial in improving the patient's quality of life. This case underscores the importance of early diagnosis and intervention to prevent complications like visual impairment.

Corrigendum: Childhood cerebral visual impairment subtype classification based on an extensive versus a limited test battery.

[This corrects the article DOI: 10.3389/fnins.2023.1266201.].

Structural validity of the impact of vision impairment questionnaire among patients with visual impairment in Thailand.

Background: The Impact of Vision Impairment (IVI) questionnaire is used to assess vision-related quality of life (VRQOL) among patients with visual impairment. This study aims to evaluate the factor structure of the IVI in the context of Thai culture to assess psychometric properties. Methods: This cross-sectional study was conducted between February and July 2022. Purposive sampling was used to include 502 patients with visual impairment who received treatment at a tertiary eye center, King Chulalongkorn Memorial Hospital, Bangkok, Thailand. The data were collected using the interviewer-administered questionnaire. The participants were randomly divided into two groups: one employed for exploratory factor analysis (EFA; n = 251) and the other for confirmatory factor analysis (CFA; n = 251). Results: EFA yielded 28 items that supported a four-factor structure: behaviors related to mobility and independence (8 items), reading (3 items), self-dependence (7 items), and emotional impact of vision loss (10 items), with a total variance of 64.9 %. The model fit was good: χ2/df = 1.66, CFI = 0.949, TLI = 0.940, RMSEA = 0.052, and SRMR = 0.041. The AIC and BIC for the bifactor four-factor model (17,484.86 and 17,879.41, respectively) were lower than those for the bifactor three-factor model (17,566.44 and 17,961.29, respectively), indicating that the former showed the best fit. Conclusions: Given its good reliability and validity, the IVI scale has been extensively used to explore the impact of visual impairment on the VRQOL of patients in the clinical setting, thus greatly benefitting researchers, healthcare providers, and ophthalmologists.

Exploring perinatal care and birth experiences in women with visual impairment: A retrospective study.

Globally, ~2.2 billion individuals suffer from visual impairment, with a large proportion of these individuals being women of reproductive age. This demographic often faces unique healthcare challenges, particularly during pregnancy, childbirth and the puerperium. However, despite the significant prevalence of visual impairment among women, there are only a limited number of studies available addressing their specific perinatal care needs. The present study aimed to fill this gap by exploring the perinatal experiences of women who are visually impaired, highlighting the existing care provisions and identifying areas for improvement. For this purpose, a retrospective study was conducted from January to June, 2021, involving 22 women with visual impairment who gave birth after 2005. The study participants were recruited through several organizations supporting individuals who are visually impaired and the participants completed a comprehensive electronic questionnaire designed to be accessible for individuals with visual impairments. The questionnaire covered demographical data, pregnancy, childbirth, puerperium period experiences and interactions with healthcare professionals. The participants included in the present study ranged in age from 29 to >35 years. The origins of their total or partial blindness varied. As shown by the results, ~45.5% of the participants considered they received equivalent levels of midwifery and gynecological care compared to women without visual impairments, and half of the participants reported that midwives and gynecologists were willing to provide such care. However, the majority (90.9%) indicated a lack of adequate knowledge among healthcare providers regarding the specific perinatal care needs of women who are visually impaired. These findings underscore the critical need for the specialized training for healthcare providers and the development of more inclusive, accessible healthcare practices to improve perinatal care for women who are visually impaired.

Visual Impairment at Presentation in Pediatric Uveitis: A Multicentric Study in 477 Children Across Southern and Eastern India.

OBJECTIVE: To evaluate visual impairment (VI) at presentation in pediatric uveitis cases in southern and eastern India. METHODS: Retrospective analysis of 477 children across four tertiary centers (2015-2020). Best-documented visual acuity (ETDRS letters) in the better eye was used to categorize VI. RESULTS: Mean age at presentation was 11 ± 3.7 years; 43.8% were females, and 64.8% bilateral. Of 205 patients with complete investigations, 32.7% were undifferentiated uveitis, 31.7% infectious, 25.7% juvenile idiopathic arthritis-associated uveitis, and 10.2% other non-infectious uveitis. At presentation, 79.0% had none to mild VI, 12.6% moderate VI, and 8.4% severe VI to blindness. On generalized estimating equations analysis for individual eyes, prior oral steroids and older age were risk factors, while female gender, prior topical corticosteroids and immunosuppressive therapy were protective against moderate and/or severe VI. CONCLUSIONS: Over a fifth of pediatric uveitis cases present with moderate/severe VI, especially in older age or with prior oral corticosteroid therapy.

What do adults with visual impairment mean by well-being? Identifying the building blocks of well-being in the context of visual impairment.

Background: Well-being has become a key outcome of health and support services for adults with visual impairment (V.I.). However, there is a lack of consensus on how well-being is conceptualized and assessed in V.I. research, if it is defined at all. A shared understanding of what well-being means in the context of adult V.I. is essential to enable comparison of findings across studies and collaboration between support organizations. Methods: This article reports findings from a series of four online focus groups with adults with V.I. and one with practitioners working in the field of adult V.I. The focus groups explored what participants meant by well-being and which factors impacted their well-being. A total of 17 adults with V.I. and five practitioners took part. A list of all components of well-being, factors that impact well-being, and items in the protective buffer that may mitigate the impact of factors on well-being were extracted from the data. Results: Despite the noted difficulty in defining well-being and disagreement around the extent to which well-being was universal or individual, a preliminary model of well-being emerged from the focus group discussions. The core of well-being reflects an overall feeling of contentment arising from a positive evaluation of how one is feeling, how one is feeling within oneself, and how one is feeling about one's life. Factors relating to balance/equilibrium, health, mood, other people, the self, and a sense of security and purpose can positively or negatively impact well-being. This impact may be mitigated by a protective buffer consisting of one's mood, mindset, ability to cope, resilience, and acceptance. Many items were discussed in multiple roles, e.g., as a component of well-being or factor. Conclusion: This research took a bottom-up approach to explore what well-being means in the context of adult V.I. The role of certain items and the structure of the proposed model of well-being will need to be confirmed in future research with stakeholders across the V.I. sector.

Air pollutant exposure is associated with visual trajectories and visual impairment in children.

Air pollution is associated with vision loss in children, but the relationship with vision trajectories has not been explored. The study was conducted as a prospective cohort in 16 districts of Shanghai from 2021 to 2023, involving 5612 children with complete survey data. Each child underwent 3-4 eye tests, including unaided visual acuity and computerized refraction. Children's air pollutant exposure levels (PM2.5, PM10, O3, SO2, NO2, and CO) were assessed using school addresses and examination dates. Latent class mixture modeling was used to identify the trajectories of changes in vision-related measurements in children. Multinomial logistic regression and Cox proportional hazards regression were used to examine the association of air pollutant exposure and visual trajectories, as well as visual impairment outcomes. The study identified three trajectory categories for children's unaided visual acuity, spherical equivalent, and four trajectory categories for axial length. Increased levels of PM2.5, PM10, O3, and SO2 exposure are associated with an increased risk of categorizing vision-related measurements into the "poor" category trajectory in children. Increased exposure to PM2.5, O3, and NO2 was associated with an increased risk of visual impairment outcomes in children with normal vision at baseline, and the effect was more significant in female and older children.

Global certification of visual impairment registries: A scoping review.

BACKGROUND: Visual impairment is a global problem which is predicted to rise in the coming years. Some of the biggest causes of visual impairment globally include uncorrected refractive error, cataract and age-related macular degeneration. People with a visual impairment often require support and so many countries hold registers of visual impairment. These registers can sit at a national, regional or local level. This scoping review aims to identify which countries hold visual impairment registries and have published data from them. METHODS: Medline All, Embase and EBSCOHost were searched using several search terms after consulting an information specialist. All papers after the year 2000 were included in the scoping review. All results are shown using a PRISMA diagram and presented narratively. RESULTS: The total number of articles and papers identified was 1266; after screening and review, 57 articles were included in the review from 2000 to 2024. These articles came from 19 different countries and encompassed national, regional and local visual impairment databases. Many countries cited age-related macular degeneration as the major cause of blindness with diabetic retinopathy and glaucoma following. In less economically developed countries, refractive error was the main cause of sight loss. There were papers which focused on specific eye conditions such as glaucoma and diabetic retinopathy or on specific cohorts including working-age population and children. The leading causes of blindness in children appeared to be inherited retinal diseases, albinism and cerebral visual impairment. CONCLUSION: Certification of visual impairment is held differently across the world. There is commonality among different countries regarding the major causes of visual impairment in both adults and children. The importance of holding visual impairment registers to support people with a visual impairment and to plan services is essential.

Biodegradable polymers and platelet-rich plasma causing visual impairment: a literature review.

BACKGROUND: Dermal fillers are widely used for facial rejuvenation and esthetic enhancement, offering temporary solutions for aging and volume loss. Despite their general safety, a rare but severe complication associated with these fillers is visual impairment, including blindness. This underscores the need for a thorough understanding of risks associated with various filler materials. Historical cases of blindness following filler injections date back to 1963, with increasing reports linked to the expansion of the cosmetic filler industry. While hyaluronic acid (HA) and autologous fat have been extensively studied, other fillers such as calcium hydroxylapatite and poly-l-lactic acid (PLLA) are less understood. OBJECTIVE: This systematic review aims to address gaps in the literature by providing a comprehensive overview of visual impairment caused by fillers other than HA and autologous fat. We systematically examine the prevalence, causes, clinical features, and treatment outcomes associated with these less common fillers. MATERIALS AND METHODS: A comprehensive literature search was conducted across databases including PubMed, Scopus, and Google Scholar using terms related to visual impairment and dermal fillers. Studies published between 2014 and 2021, including observational studies and case reports, were included. Studies were selected based on predefined inclusion and exclusion criteria, and a PRISMA flow diagram was used to illustrate the study selection process. RESULTS: The review identifies and summarizes cases of visual impairment associated with calcium hydroxylapatite, poly-d,l-lactic acid (PDLLA), and PLLA fillers. Key findings reveal that visual impairment following these fillers is rare but can occur suddenly or within a few days of the procedure. Cases of delayed onset up to two weeks are also noted, emphasizing the need for extended post-procedure monitoring. DISCUSSION: The review highlights unique insights into the risks associated with non-HA fillers, such as the heightened risk in the periorbital region and other facial areas. It explores mechanisms of complications, including retrograde flow of emboli leading to retinal ischemia. The discussion also covers emergency protocols and preventative measures, providing valuable guidance for managing and mitigating risks. CONCLUSIONS: Visual impairment caused by fillers other than HA and autologous fat, while rare, represents a serious complication that requires careful attention. This review contributes new perspectives on the differential risks of various fillers, symptom onset variability, and anatomical risk factors. Emphasizing the importance of proper patient selection, technique, and monitoring, it calls for further research to better understand and prevent these complications, ultimately aiming for safer and more effective use of soft-tissue fillers.

Association of cumulative average sensory impairments with cognitive function and depressive symptoms: Two prospective cohort studies.

BACKGROUND: Globally, over 2.2 billion people have a vision impairment and over 1.5 billion live with hearing impairment, which are significant public health concerns given the meaningful impacts on individual and society. We aimed to investigate whether long-term average visual, hearing, and dual sensory impairment was independently associated with cognitive impairment, incident dementia, and incident depressive symptoms. METHODS: We used data from the Health and Retirement Study (HRS) and the China Health and Retirement Longitudinal Study (CHARLS), two nationally representative and prospective cohorts of community middle aged and older adults. Average sensory impairment was calculated using the area under the curve divided by follow-up time from wave 3 (1996) to wave 15 (2020) in HRS and wave 1 (2011) to wave 4 (2018) in CHARLS. Cox regression models adjusted for multiple covariates were used to estimate adjusted hazard ratios (HRs) and 95 % confidence intervals (95 % CIs). RESULTS: For each one standard deviation (SD) increment in average visual impairment, the risk of developing cognitive impairment, incident dementia, and incident depressive symptoms increased by 12 %, 34 %, and 39 % in CHARLS and 11 %, 14 % and 10 % in HRS. Similar results were found for each SD increment in average hearing impairment and dual sensory impairment. Nonlinear dose-response relationships were identified between visual impairment and dementia, as well as dual sensory impairment and dementia in both cohorts. LIMITATIONS: The diagnosis of cognitive impairment, dementia, and depression were based on subjective assessment. CONCLUSION: Multi-level approaches aimed at improving access to sensory care are needed to improve middle-aged and older adults' visual and auditory functions.

Degraded Visibility Body-Specifically Affects Mental Rotation.

The way we perceive our own body is shaped by our perception. Changes in sensory input, such as visual degradation, can lead to visual-to-motor shifts in the reference frame used to mentally represent the body. While this effect has been demonstrated in mental representation of hands, it is still unknown whether it also affects mental representation of other body parts. To fill this gap, we asked 35 neurotypical participants to perform mental rotation (laterality judgement) of hand, foot, and full-body images, while the images' visibility (figure/background contrast) was manipulated. Visibility deteriorations increased the steepness of the response time (RT) slopes for mental rotation of hand images shown from a less common view (palm) and of foot images from a more common view (dorsum), but not of full-body images from either the common or uncommon views. Suggesting that steeper and flatter RT slopes evoke the activation of a motor- or vision-based cognitive strategy for mental rotation, respectively, we propose that visual deterioration induces body-specific visual-to-motor shifts in mental processing. These findings show that the reliance on visual or motor aspects to mentally represent the body can be modulated by a reduction in sensory input, which changes the employed cognitive strategy.

The incidence of visual impairment due to retinitis pigmentosa has declined in Finland over the last 40 years.

PURPOSE: To study the changes in incidence, age at onset and severity of visual impairment (VI) due to retinitis pigmentosa (RP) in the Years 1980-2019, and the incidence and age at diagnosis of hereditary retinal dystrophy (HRD) diagnoses coded by ICD10 H35.5 in the Years 1998-2019 in Finland. METHODS: A total of 1606 persons with VI due to RP registered by the Finnish Register of Visual Impairment and total of 4291 HRD diagnoses registered by the Care Register of the Finnish Institute for Health and Welfare were included. VI was classified according to the Finnish national definitions derived from the WHO definitions. The significance of the changes in incidence and age at onset were tested with statistical tests (Kruskal-Wallis, Mann-Whitney U and Cochran-Armitage). Two-tailed p-value below 0.05 was considered significant. RESULTS: The incidence of VI due to RP has decreased from 0.96/100 000 in the 1980s to 0.55/100 000 in the 2010s (p 0.004). The age at onset of VI has increased from 41.6 to 50.3 years. The severity of VI has not changed. The incidence of HRD diagnoses has decreased from 3.66/100 000 in the 2000s to 2.86/100 000 in the 2010s (p 0.024). The age at diagnosis has risen in male patients from 42.1 to 44.5 years (p 0.024). CONCLUSION: The VI caused by RP in Finland has decreased. It develops at an older age than in the past. We hypothesize that this trend may be attributed to informed decisions by visually impaired persons to refrain from having offspring to prevent the transmission of hereditary mutations. The severity of VI due to RP has remained relatively unchanged. The incidence of HRD diagnoses has decreased, and the diagnosis occurs at an older age among men.

Red Blood Cell Transfusion for Incidence of Retinopathy of Prematurity: Prospective Multicenter Cohort Study.

Background: Retinopathy of prematurity (ROP) is a leading cause of visual impairment and blindness in preterm infants. Objective: This study sought to investigate the association between red blood cell (RBC) transfusion and ROP in very preterm infants (VPIs) to inform clinical strategies for ROP prevention and treatment. Methods: We designed a prospective multicenter cohort study that included VPIs and follow-up data from January 2017 to December 2022 at 3 neonatal clinical medicine centers. They were categorized into a transfusion group (infants who received an RBC transfusion within 4 wk) and a nontransfusion group. The relationship between RBC transfusion and ROP incidence was assessed using binary logistic regression, with subgroup analyses based on gestational age, birth weight, sex, and sepsis status. Inverse probability of treatment weighting and propensity score matching were applied to account for all potential confounding factors that could affect ROP development, followed by sensitivity analysis. Results: The study included 832 VPIs, including 327 in the nontransfusion group and 505 in the transfusion group. The transfusion group had a lower average birth weight and gestational age and a greater incidence of ROP, ≥stage 2 ROP, and severe ROP. Logistic regression analysis revealed that the transfusion group had a significantly greater risk of ROP (adjusted odds ratio [aOR] 1.70, 95% CI 1.14-2.53, P=.009) and ≥stage 2 ROP (aOR 1.68, 95% CI 1.02-2.78, P=.04) but not severe ROP (aOR 1.75, 95% CI 0.61-5.02, P=.30). The trend analysis also revealed an increased risk of ROP with an increasing number of transfusions and a larger volume of blood transfused (P for trend<.001). Subgroup analyses confirmed a consistent trend, with the transfusion group at a higher risk for ROP across all subgroups. Inverse probability of treatment weighting and propensity score matching analyses supported the initial findings. Conclusions: For VPIs, RBC transfusion significantly increases the risk of ROP, and the risk increases with an increasing number of transfusions and volume of blood transfused.

Overview of Neuro-Ophthalmic Findings in Leukodystrophies.

Background: Leukodystrophies are a group of rare genetic diseases that primarily affect the white matter of the central nervous system. The broad spectrum of metabolic and pathological causes leads to manifestations at any age, most often in childhood and adolescence, and a variety of symptoms. Leukodystrophies are usually progressive, resulting in severe disabilities and premature death. Progressive visual impairment is a common symptom. Currently, no overview of the manifold neuro-ophthalmologic manifestations and visual impact of leukodystrophies exists. Methods: Data from 217 patients in the Hamburg leukodystrophy cohort were analyzed retrospectively for neuro-ophthalmologic manifestations, age of disease onset, and magnetic resonance imaging, visual evoked potential, and optical coherence tomography findings and were compared with data from the literature. Results: In total, 68% of the patients suffered from neuro-ophthalmologic symptoms, such as optic atrophy, visual neglect, strabismus, and nystagmus. Depending on the type of leukodystrophy, neuro-ophthalmologic symptoms occurred early or late during the course of the disease. Magnetic resonance imaging scans revealed pathologic alterations in the visual tract that were temporally correlated with symptoms. Conclusions: The first optical coherence tomography findings in Krabbe disease and metachromatic leukodystrophy allow retinal assessments. Comprehensive literature research supports the results of this first overview of neuro-ophthalmologic findings in leukodystrophies.

Assessing the economic burden of vision loss and irreversible legal blindness in Spain (2021-2030): a societal perspective.

OBJECTIVE: To estimate the economic impact for the society, generated as a consequence of the onset of loss of vision and irreversible legal blindness, for the main ophthalmologic diseases in Spain: glaucoma, diabetic retinopathy (DR), diabetic macular edema (DME), age-related macular degeneration (AMD) and high myopia (HM). METHODS: A cost analysis model was developed to estimate the economic burden of glaucoma, DR, DME, AMD and HM over a 10-year time horizon (2021-2030), from a societal perspective in Spain. The epidemiological and economic parameters used in the model were obtained through a literature review. Prevalence, incidence, and progression stages were used to establish the epidemiological flows. Annual costs per patient from publications were included and classified into direct healthcare, direct non-healthcare and indirect costs. Costs from other countries were converted based on purchasing-power-parity (€EUR, PPP). Epidemiological parameters about population and cost results were validated by a panel of experts. All costs were adjusted to euros, 2021 (€, 2021), and using the Consumer Price Index (CPI) of the last 10 years, extrapolated to 2030 euros (€, 2030). RESULTS: It was estimated that the total population of patients with the main diseases pathologies (glaucoma, DR, DME, AMD and HM) will increase to 7.99 million patients by 2030, representing an increase of 103%. The total cost by 2030 of all pathologies would amount to 99.8 billion euros. Direct non-healthcare costs account for the largest item (44%), followed by loss of productivity costs (38%), and direct healthcare costs (18%). The pathologies with the highest cumulative costs will be glaucoma (€33.6 billion) and DME (€19.8 billion).The greatest increment costs compared to 2021 will likely be generated by pathologies related to diabetes mellitus, such as DR (703%) and DME (317%). CONCLUSIONS: Knowing the costs associated with the pathologies that generate loss of vision and irreversible legal blindness is essential to understand the socioeconomic impact associated with these pathologies. Furthermore, the high cost of treating these diseases makes necessary to coordinate efforts between administrations, together with the support of patient associations, to meet their needs.

Modification and Validation of an Autism Observational Assessment Including ADOS-2® for Use with Children with Visual Impairment.

Children with visual impairment (VI) are at risk of autism spectrum disorder (ASD); however standard observational diagnostic assessments are not validated for this population. The primary objective of the study is to validate a modified version of the Autism Diagnostic Observation Schedule (ADOS-2®, Module 3), for children with VI. A cross-sectional observational study was undertaken with 100 (mean 5½ years, SD 10.44 months, range 4-7 years; 59 (59%) males) children with congenital disorders of the peripheral visual system with moderate/severe-profound VI. As the primary objective, 83 (83%) who were 'verbally fluent' were assessed with the modified ADOS-2® (Module 3). Their scores were investigated for reliability, construct and criterion validity against expert clinician formulation and parent-rated social and communication questionnaires (Social Responsiveness Scale-2, SRS-2; Children's Communication Checklist-2). The secondary objective with the total sample was to report on frequency and distribution of ASD ratings in this VI population. The modified ADOS-2® (Module 3) was found to have strong internal coherence and construct validity (two factor model) and inter-rater reliability. A new VI diagnostic algorithm was established which showed high sensitivity and specificity against clinician formulation. Using the best cut-off threshold for 'High Risk for ASD', strong concurrent criterion validity was found according to parent-rated scores on the SRS-2. The modified ADOS-2® (Module 3) was shown to have promising reliability and validity in establishing children at 'High Risk of ASD' in this vulnerable population. Elevated rates of ASD were found across the sample, in line with previous estimates.

A case of visual impairment due to HHV-6 encephalitis after allogeneic hematopoietic stem cell transplantation in childhood acute myeloid leukemia-M2 subtype.

Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is a crucial treatment option for children with M2 subtype acute myeloid leukemia (AML). Human herpesvirus 6 (HHV-6) encephalitis following transplantation is a rare postoperative complication, with a poor prognosis and a high fatality rate in allo-HSCT recipients. In this report, a juvenile patient with AMLwas successfully treated after developing visual impairment as a result of HHV-6B encephalitis during allo-HSCT therapy. HHV-6 encephalitis-associated visual impairment after transplantation is rare, and clinical diagnosis and treatment are challenging, requiring more attention in the future.

Bodily-tactile early intervention: a pilot study of the role of maternal touch and emotional availability in interactions between three children with visual impairment and additional disabilities and their mothers.

Background: Children with visual impairment and additional disabilities (VIAD) have difficulty accessing the visual information related to their parents' facial expressions and gestures. Similarly, it may be hard for parents to detect their children's subtle expressions. These challenges in accessibility may compromise emotional availability (EA) in parent-child interactions. The systematic use of the bodily-tactile modality for expressive and receptive communicative functions may function as a strategy to compensate for a child's lack of vision. This multiple-case study explored the effects of a bodily-tactile early intervention for three mothers and their one-year-old children with VIAD. Methods: Video data from baseline, intervention, and follow-up sessions were analyzed using a bodily-tactile coding procedure and EA Scales. Results: During the intervention, all mothers began to use a more bodily-tactile modality in early play routines and in different communicative functions. They increased their use of anticipatory cues, noticing responses, and tactile signs. Moreover, the children were more emotionally available to their mothers during the intervention and follow-up compared to the baseline. Conclusion: The results indicated that, during a short intervention, mothers could adopt a systematic use of the bodily-tactile modality in interactions with their children with VIAD. The results also suggest that, when mothers increased flexibility in communication channels, it was positively linked to their children's EA.

Prevalence of cerebral visual impairment in developmental and Epileptic Encephalopathies: a systematic review protocol.

BACKGROUND: Developmental and Epileptic Encephalopathies (DEEs) are defined by drug-resistant seizures and neurodevelopmental disorders. Over 50% of patients have a genetic cause. Studies have shown that patients with DEEs, regardless of genetic diagnosis, experience a central visual function disorder known as Cerebral (cortical) Visual Impairment (CVI). The prevalence of CVI in DEE patients is currently unknown. A quantitative synthesis of existing data on the prevalence rates of this condition would aid in understanding the magnitude of the problem, outlining future research, and suggesting the need for therapeutic strategies for early identification and prevention of the disorder. METHODS: The protocol followed the PRISMA-P statement for systematic review and meta-analysis protocols. The review will adhere to the JBI Manual for Evidence Synthesis (Systematic Reviews of Prevalence and Incidence) and use the CoCoPop framework to establish eligibility criteria. We will conduct a comprehensive search of several databases, including MEDLINE, EMBASE, Science Direct, Scopus, PsychINFO, Wiley, Highwire Press, and Cochrane Library of Systematic Reviews. Our primary focus will be determining the prevalence of cerebral visual impairments (Condition) in patients with developmental and epileptic encephalopathy (Population). To ensure clarity, we will provide a narrative summary of the risk of bias in the studies we include. The Cochrane Q statistic will be used to assess heterogeneity between studies. If the quantitative synthesis includes more than 10 studies, potential sources of heterogeneity will be investigated through subgroup and meta-regression analyses. Meta(bias)es analysis will also be performed. The quality of evidence for all outcomes will be evaluated using the Grading of Recommendations Assessment Development and Evaluation (GRADE) working group methodology. DISCUSSION: This protocol outlines a systematic review and meta-analysis to identify, collect, evaluate, and integrate epidemiological knowledge related to the prevalence of CVI in patients with DEEs. To the best of our knowledge, no other systematic review and meta-analysis has addressed this specific issue. The results will provide useful information for understanding the extent of the problem, outlining future research, and suggesting the need for early identification strategies. SYSTEMATIC REVIEW REGISTRATIONS: This Systematic Review Protocol was registered in PROSPERO (CRD42023448910).