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Introduction: Specialized public services for attending children and adolescents with complaints of scholar difficulties are scarce in Brazil. It is important to recognize this target population and understand its demands, so these facilities may be able to meet their needs and offer qualified and effective services. The main objective of this study was to characterize the profile of neuropediatric patients cared for in a reference outpatient facility in Brazil. Method: Data were extracted from children's and adolescent's records, corresponding to assessments carried out between March 2017 to March 2023. Results: From 220 selected records, 70% had complaints related to learning difficulties and 79.1% to attention disorders. The most frequent diagnoses were attention-deficit/hyperactivity disorder (30%), intellectual deficiency (19.1%), and learning-specific disorder (17.7%). A significant association with scholarship was found between motor agitation [χ2(9)â¯=â¯29.8; p <â¯0.001], behavioral complaints [χ2(9)â¯=â¯16.2; p =â¯0.050], and language difficulties [χ2(9)â¯=â¯17.0; p =â¯0.043]. Results have indicated significant differences relating to diagnosis and gender: boys had a higher prevalence for dyslexia [χ2(1)â¯=â¯4.44; p =â¯0.035], intellectual deficiency [χ2(1)â¯=â¯8.38; p =â¯0.004], and autism spectrum disorder [χ2(1)â¯=â¯9.29; p =â¯0.002], when compared to girls. Conclusion: These results corroborate international findings over complaints regarding learning difficulties and correlated disturbances, in addition to the existing comorbidities between different diagnoses related to neurodevelopment and scholar acquisitions.
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BACKGROUND: Ischemic stroke, accounting for 85% of stroke cases, leads to severe disabilities and increased mortality. Its global incidence rose by 87.55% from 1990 to 2019, posing significant health and economic burdens. The BRICS-plus nations-Brazil, Russia, India, China, South Africa, and five others-represent a large global population, presenting unique public health challenges. This study aims to evaluate the epidemiological trends and variations in the burden of ischemic stroke across BRICS-plus nations in a timely manner. METHODS: Data on the number, all-age rate, age-standardized rate, and relative change in ischemic stroke disability-adjusted life years (DALYs) from 1992 to 2021 within BRICS-plus were obtained from the Global Burden of Disease Study (GBD) 2021. Relationships between the DALYs rate and the Socio-demographic Index (SDI) were evaluated using Pearson correlation analyses. Additionally, age-period-cohort modeling was employed to estimate net drift, local drift, age, period, and cohort effects over the past three decades. RESULTS: From 1992 to 2021, total DALYs due to ischemic stroke increased by 47.14%, while the age-standardized DALYs rate decreased by 33.79%. All BRICS-plus countries exhibited a declining trend in the age-standardized DALYs rate over the past three decades. Egypt reported the highest age-standardized DALYs rate (2,462.60 per 100,000 population) in 2021, whereas the most substantial reduction of 59.37% was observed in Brazil. The annual net drift in the ischemic stroke DALYs rate ranged from -3.04% for Brazil to -0.48% for Egypt among the ten countries. A significant positive correlation was observed between the DALYs rate of ischemic stroke and SDI values. Countries exhibited similar age effect patterns, with an increasing risk of DALYs rate with advancing age. Period and cohort effects highlighted declines in observed nations, indicating improved ischemic stroke management strategies. CONCLUSION: The burden of ischemic stroke showed an overall declining trend across the BRICS-plus from 1992 to 2021, but persistent health inequalities between these countries were driven by socioeconomic disparities. Furthermore, it emphasizes the necessity for targeted interventions across age, period, and cohort dimensions to address the distinct challenges posed by ischemic stroke in these rapidly developing countries.
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AVC Isquêmico , Humanos , Pessoa de Meia-Idade , Adulto , Idoso , Masculino , Feminino , AVC Isquêmico/epidemiologia , Índia/epidemiologia , Brasil/epidemiologia , Anos de Vida Ajustados por Deficiência , Carga Global da Doença/tendências , África do Sul/epidemiologia , China/epidemiologia , Federação Russa/epidemiologia , Efeito de Coortes , Adulto Jovem , Adolescente , Idoso de 80 Anos ou mais , Saúde Global/estatística & dados numéricos , Fatores Etários , Incidência , Efeitos Psicossociais da DoençaRESUMO
Multiple sclerosis (MS) is a disorder in which the body's immune system attacks structures of the central nervous system, resulting in lesions that can occur throughout the brain and spinal cord. Cortical lesions, in particular, can contribute to motor dysfunction. Walking disability is reported as the main impairment by people with MS (pwMS), often due to limited ankle movement. This study explored the event-related desynchronization (ERD) onset latency of the sensorimotor rhythms during foot dorsiflexion in pwMS computed using an objective and independent of human criterion method, as an electroencephalogram (EEG) based biomarker. EEG signals were recorded in eight persons with neither neurological condition nor motor dysfunction and eight pwMS with relapsing-remitting, primary progressive or secondary progressive MS. Recordings were divided into three groups: control, more affected lower limb and less affected lower limb. The ERD-onset latency was determined using a method based on the percent of ERD time course and the cluster depth tests. The median and interquartile range of the ERD-onset latency were 1186.0 (1100.0, 1250.0) ms; 1064.0 (1031.0, 1127.0) ms for the more and less affected groups respectively, whereas the median and interquartile range for the control group was 656.0 (472.2, 950.0) ms. There was a significant delay in the ERD-onset latencies of the pwMS groups compared to the control group (p<0.001 for both comparisons). These findings suggest that the ERD-onset latency computed using the proposed method could be used as an EEG biomarker to evaluate disease progression or therapeutic interventions in pwMS.
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Eletroencefalografia , Pé , Esclerose Múltipla , Humanos , Feminino , Masculino , Adulto , Pé/fisiopatologia , Esclerose Múltipla/fisiopatologia , Eletroencefalografia/métodos , Pessoa de Meia-Idade , Análise por ConglomeradosRESUMO
BACKGROUND AND AIMS: A recent study reported that Oropouche virus (OROV) infection may play a role in the etiology of Guillain-Barré syndrome. We aimed to identify the neurological performance, disease-modifying therapies, and clinical outcomes related to patients with Oropouche-associated Guillain-Barré syndrome admitted to the critical care unit. METHODS: This was an analysis of 210 patients diagnosed with Guillain-Barré syndrome and suspicion of Oropouche viral infection admitted to the critical care units from June 2024 to September 2024 using the national administrative healthcare data. OROV was identified by reverse-transcriptase-polymerase-chain-reaction. Patients with Guillain-Barré syndrome and Oropouche infection were compared with those without Oropouche infection in terms of demography features, neurological performance, disease-modifying therapies, and clinical outcomes. RESULTS: Most patients had a severe disease. Mechanical ventilation was required in 28.6%. Overall mortality rate was 14.3%. The median time from onset of weakness to intensive care unit discharge, and the median time from hospital admission to intensive care unit discharge was 18 days (IQR: 13-24.3 days) and 13 days (IQR: 9-19 days), respectively. Oropouche viral infection was detected in 43 (20.5%) patients. There were no differences among patients with and without Oropouche viral infection regarding general characteristics, neurological performance, disease-modifying therapies, and outcomes. After adjusting for confounders in multivariate logistic regression analysis, Oropouche viral infection (OR: 1.94; 95% CI: 0.72-5.20; p = 0.189) was not related to increased mortality. INTERPRETATION: Oropouche viral infection does not modify the clinical course, disease severity, and outcomes of patients with Guillain-Barré syndrome.
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Síndrome de Guillain-Barré , Humanos , Síndrome de Guillain-Barré/virologia , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Adulto , Unidades de Terapia Intensiva/estatística & dados numéricos , Infecções por Bunyaviridae , OrthobunyavirusRESUMO
Objective: To determine whether cyber dating abuse and the severity of alcohol and other drug use are predictors of in-person dating violence in Mexican adolescents. Methods: Predictive, cross-sectional study, with a non-probabilistic sample of 883 students, enrolled in schools distributed throughout Mexico. Results: Verbal and psychological violence due to victimization is the main form of in-person dating violence, albeit in a higher proportion by girls, whereas physical violence shows a bidirectional pattern between both sexes. Cyber control and monitoring predict most types of in-person violence through victimization and, together with substance abuse, predict physical and sexual violence. For its part, direct cyber aggression, together with substance abuse, predict most forms of violence perpetrated. Discussion: Girls not only experience a high frequency of violence but in some modalities also inflict violence relatively frequently, particularly in the realm of cyber dating abuse but also in the case of physical violence. Findings confirm the predictive role of cyber abuse in in-person dating violence, showing that together with substance abuse, it constitutes a significant predictor of more bodily forms of violence through victimization.
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Snakebites caused by Bothrops snakes are the most prevalent in the Amazon region, causing local and systemic complications. Local complications are mostly represented by necrosis, secondary bacterial infection and compartment syndrome. There are reports of long-term disabilities, but their burden is poorly investigated. This study aims to describe and estimate the frequency of physical and sensory long-term disabilities from Bothrops snakebites in the Manaus Region, in the western Brazilian Amazon region. Participants were >18-years individuals that accepted to return to the hospital 3-12 months (average follow-up time of 195 days) after the discharge for neuromusculoskeletal, chronic pain and sensory assessments. Assessment of disability was also performed using the World Health Organization Disability Assessment Schedule 2.0 (WHODAS 2.0). Factors associated with summary disability using WHODAS 2.0 were identified. Fifty participants were enrolled. A frequency of 20% of the participants reported difficulty in moving the affected limb (20%), and 23.7% reported difficulty in walking. Limitations of daily activities were reported by 26% of the patients. Decreased strength of the affected limb was observed in 22% of the patients. Decreased range of joint motion was seen in 20% of the patients. Chronic pain was reported in 48% of the patients. Tactile sensibility was decreased in 30%, thermal sensibility in 14%, painful sensibility (hypoalgesia) in 12%, kinetic-postural sensibility (hypokinesthesia) in 4% and vibratory sensibility was decreased or abolished in 16% of the participants. Cognition and mobility domains were those with the highest frequencies of participants with any degree of disability, each with 57%. The summary WHODAS 2.0 disability rate was 59%. Age > 59 years (p = 0.02)] was associated with protection against disability. Difficulty in moving the limb (p = 0.05), pain at the affected limb (p < 0.01), limitations of daily activities (p < 0.01) and decreased thermal sensibility (p = 0.05) were significantly associated with disability. The present study consists of the first follow-up investigation involving Bothrops snakebite patients related to long-term disabilities. These findings represent important data on Bothrops snakebites causing clinically significant long-term neuromusculoskeletal and sensory disabilities, resulting in reduced quality of life of the patients.
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Bothrops , Mordeduras de Serpentes , Humanos , Mordeduras de Serpentes/epidemiologia , Mordeduras de Serpentes/fisiopatologia , Mordeduras de Serpentes/complicações , Brasil/epidemiologia , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Animais , Adulto Jovem , Atividades Cotidianas , Avaliação da Deficiência , Venenos de Crotalídeos/toxicidade , Pessoas com Deficiência , IdosoRESUMO
BACKGROUND: Neuromyelitis optica spectrum disorder (NMOSD) with positivity for aquaporin-4 antibody (AQP4-IgG) represents one of the mains etiologies of longitudinally extensive transverse myelitis (LETM). Advancements in early diagnosis and treatment have led to a decline in NMOSD-related mortality. However, long-term prognostic data for patients experiencing their first episode of LETM remain scarce, especially in Brazil. This study aims to evaluate the final diagnosis and long-term prognosis of patients with first episode of LETM and investigate factors associated with worse prognosis. METHODS: This is an observational retrospective study involving all consecutive patients diagnosed with longitudinally extensive myelopathy who were sequentially referred to the clinical neurology department of a brazilian tertiary hospital between January 2005 and December 2011. Only patients meeting the criteria for the first episode of idiopathic LETM were included. Data were retrieved from electronic medical records from October 2023 to January 2024. RESULTS: 39 patients met the inclusion criteria. After a median follow-up of 12 years, 51% patients remained with isolated monophasic seronegative LETM, 28% were diagnosed with NMOSD AQP4-IgG positive, 7.7% with NMOSD AQP4-IgG negative, 5% with MOGAD, 5% experienced recurrent seronegative LETM, and only 1 (2.6%) developed multiple sclerosis. The mortality rate was 10% at last follow-up, with a median time to death of 3 years. Deceased patients had a higher age at onset of LETM (OR 1.09, 95% CI 1.01-1.21). Among survivors, 17% had an Expanded Disability Status Scale (EDSS) ≥7 at last follow-up. Predictors of severe sequelae included higher EDSS at nadir (OR 5.29; 95% CI 1.38-39), pain as an initial myelitis symptom (OR 11.1; 95% CI 1.51-230) and spinal shock during the first myelitis (p < 0.001). CONCLUSION: In this cohort, after a median 12-year follow-up, half of the patients remained as isolated monophasic seronegative LETM, mortality reached 10% and 83% of survivors were ambulatory. Predictors of poor prognosis included older age, presence of pain as an initial symptom and higher initial severity.
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Mielite Transversa , Neuromielite Óptica , Humanos , Feminino , Masculino , Mielite Transversa/mortalidade , Adulto , Prognóstico , Estudos Retrospectivos , Pessoa de Meia-Idade , Seguimentos , Neuromielite Óptica/mortalidade , Neuromielite Óptica/complicações , Neuromielite Óptica/diagnóstico , Neuromielite Óptica/fisiopatologia , Aquaporina 4/imunologia , Autoanticorpos/sangue , Brasil/epidemiologiaRESUMO
Narrative abilities are essential for school achievement and quality of life, yet children with Down syndrome (DS) often struggle with these skills. This work explores the oral narrative abilities of school-age Chilean children with DS. The participants were 11 children with DS aged between 7;2 and 12;1 (years; months). All participated in a retelling task using a wordless picture book. Microstructural and macrostructural performance were analyzed and compared with data from a reference database of typically developing Spanish-speaking children, matched by chronological age or linguistic abilities. Children with DS showed proficiency in identifying introductory story elements but faced difficulties with cohesion. Restricted microstructural performance and task completion time were observed. Ethical-methodological challenges and recommendations for practice and research are discussed.
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Síndrome de Down , Narração , Humanos , Síndrome de Down/psicologia , Chile , Criança , Masculino , FemininoRESUMO
ABSTRACT Objective: Learning disability leads to school dropout and low self-esteem in childhood, low socioeconomic status, increased criminality, and incarceration in adulthood. Pediatricians are key professionals who can diagnose and prevent this. The objective of the study was the early detection and reference of children with learning disabilities as identified by their schoolteachers. Methods: The protocol included: specific anamnesis with parents; Snellen test; audiometry and central auditory processing test; referral to speech therapists, ophthalmologists, otorhinolaryngologists, psychiatrists, psychologists, and neurologists if necessary; validated screening tests to evaluate literacy and mathematics reasoning skills; and development of a report for parents and teachers on the suspected diagnosis, professional referral, and curricular adjustments. Results: A total of 15 patients were evaluated in 1 year, with a mean age of 10.3 years, median school fourth grade, and mostly males (80%). The time for final report delivery was 6.4 months. Visual impairment was identified in 35.7% and central auditory processing impairment in 100% of patients. For writing and reading skills, seven children had below average and two children had average scores; for mathematics skills, five had below average, one average, and one higher score. Six children were illiterate and were suspected of having autism spectrum disorder, attention-deficit hyperactivity disorder, oppositional defiant disorder, intelligence disability, or borderline intelligence coefficient. Conclusions: A specific protocol helped to identify sensory organ impairments and psychological and psychiatric conditions, quantify school hardship, and provide a report with a suspected diagnosis and referral for treatment of learning disabilities. Larger population studies and a control group are necessary to validate this protocol.
RESUMO Objetivo: A dificuldade de aprendizagem é causa de abandono escolar, redução de renda e risco de encarceramento. O pediatra é um profissional-chave para o diagnóstico e prevenção desse desfecho. O objetivo deste estudo foi detectar precocemente e referir crianças com dificuldade de aprendizagem encaminhadas da escola. Métodos: O protocolo incluía a realização de anamnese com os pais; teste de Snellen, audiometria e processamento auditivo central; encaminhamento para fonoaudiólogo, oftalmologista, otorrinolaringologista, psiquiatra, psicólogo e neurologista se necessário; teste de rastreio validado para leitura, escrita e matemática; relatório final com a suspeita diagnóstica, encaminhamento para profissionais e adequação curricular. Resultados: Em um ano foram avaliados 15 pacientes, com média de idade 10,3 anos, 80% do sexo masculino e mediana de série escolar quarto ano. O relatório foi entregue para pais em média após 6,4 meses. Alterações visuais e de processamento auditivo foram observadas em 35,7 e 100%, respectivamente. O resultado para escrita e leitura foi abaixo da média em sete crianças e na média em duas; para matemática, cinco crianças ficaram abaixo da média, uma na média e uma acima da média. Seis crianças não eram alfabetizadas e as suspeitas diagnósticas foram transtorno do espectro autista, déficit de atenção e hiperatividade, transtorno desafiador opositivo, deficiência intelectual ou inteligência borderline. Conclusões: O protocolo ajudou a identificar causas orgânicas de dificuldade de aprendizagem, quantificou a dificuldade e produziu um relatório com suspeita diagnóstica e encaminhamentos necessários para auxiliar no tratamento das crianças. Estudos com maiores populações e grupo controle são necessários para validar o protocolo.
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ABSTRACT Objective: The objective of this study was to establish the genotype-phenotype correlation between karyotype results and the neurological and psychiatric alterations presented in patients with Turner syndrome (TS). Methods: A retrospective study was conducted on the medical records of 10/140 patients with TS and neurophysiological abnormalities seen at a university hospital in southern Brazil. In addition, a literature review spanning the period from January 1, 2012 to January 1, 2023 was carried out using the PubMed and Virtual Health Library databases. Results: Our study showed a potential correlation between neurological and psychiatric alterations in patients with TS. These findings are in accordance with those described in literature such as a high prevalence of learning or intellectual disabilities. However, our sample found more seizure episodes than those reported in other studies. Conclusions: The correlation established could be due to X chromosome dose-effect, as the review suggests that sex chromosome number and hormonal development can be associated with verbal, social, and cognitive skills or impairments.
RESUMO Objetivo: O objetivo deste estudo foi realizar a correlação genótipo-fenótipo entre os resultados de cariótipos e as alterações neurológicas e psiquiátricas apresentadas em pacientes com síndrome de Turner (ST). Métodos: Um estudo retrospectivo foi conduzido nos registros médicos de 10/140 pacientes com ST e deficiências neuropsicológicas atendidos pelo Serviço de Genética Clínica de um hospital do sul do Brasil. Ademais, uma revisão foi realizada pelas plataformas científicas PubMed e Biblioteca Virtual em Saúde (BVS) de artigos publicados entre 1o de janeiro de 2012 e 1o de janeiro de 2023. Foram selecionados 14 artigos em uma análise em duas etapas. Resultados: Nossa pesquisa mostrou potencial correlação entre alterações neurológicas e psiquiátricas em pacientes com ST. Esses achados corroboram os descritos por outros autores — como a elevada prevalência de dificuldades de aprendizagem ou intelectuais. Entretanto, nossa amostra encontrou mais episódios convulsivos do que os descritos em outros estudos. Conclusões: A correlação estabelecida pode ser devida ao efeito dose-dependente do cromossomo X, visto que nossa revisão sugere que o número de cromossomos sexuais ou o desenvolvimento hormonal está associado a habilidades ou deficiências verbais, sociais e cognitivas.
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ABSTRACT Objective: The aim of this study was to evaluate the functioning and associated factors in children and adolescents with osteogenesis imperfecta (OI). Methods: This is a cross-sectional study conducted on 30 children and adolescents with OI. Medical records, use of bisphosphonates, socioeconomic status, handgrip strength, balance, joint hypermobility, ambulatory level, and the Pediatric Evaluation of Disability Inventory—Computer Adaptative Test (PEDI-CAT) scores were assessed. Data is presented as mean and standard deviation and Student's t-test or Mann-Whitney U test. Categorical data is presented as frequency and analyzed using Fisher's exact test. Within-group analyses were conducted using ANCOVA or Wilcoxon signed-rank test. Correlations used Kendall's Tau-b test. Results: The participants involved in this study were 6-18 years old. The sample was separated into two groups according to disease severity. The moderate/severe OI group (n=10) presented a lower height and muscular strength than the mild group (n=20). Muscle weakness was observed in all participants with OI when compared with the normal population. No differences were observed between the groups in the PEDI-CAT scores except for the mobility domain. There were correlations between the PEDI-CAT mobility domain and the number of fractures, OI type, weight, and balance; there was also a correlation between the PEDI-CAT daily activities, mobility, responsibility, and social/cognitive domains. Conclusions: The findings suggest that children with moderate/severe forms of OI can achieve the same function levels as children with mild OI. Fractures can have a major influence on the functional level, and treatment should focus on the prevention and rehabilitation of these events when they occur.
RESUMO Objetivo: Avaliar a funcionalidade e fatores associados em crianças e adolescentes com osteogênese imperfeita (OI). Métodos: Estudo transversal com 30 crianças e adolescentes com OI. Foram avaliados prontuários médicos, uso de bisfosfonatos, características socioeconômicas, dinamometria de preensão palmar, equilíbrio, hipermobilidade articular, nível de deambulação e escores do Pediatric Evaluation of Disability Inventory - Computer Adaptative Test (PEDI-CAT). Os dados foram apresentados em média e desvio padrão e comparados por teste t por Mann-Whitney, enquanto os categóricos foram apresentados em frequência e comparados pelo teste exato de Fisher. Análises intragrupos foram realizadas por análise de covariância (ANCOVA) ou Teste de Wilcoxon para postos sinalizados. O teste Tau-b de Kendall foi usado para correlações. Resultados: A idade variou de 6 a 18 anos. A amostra foi dividida em dois grupos de acordo com a gravidade da doença. Casos moderados/graves (n=10) apresentaram menor estatura e força muscular comparadas às dos leves (n=20). Fraqueza muscular foi observada em todos os casos de OI quando comparados à população normal. Não houve diferença nos domínios do PEDI-CAT com exceção do domínio mobilidade. Houve correlação entre o número de fraturas, tipo de OI, peso e equilíbrio e o domínio mobilidade; e entre os domínios Atividades Diárias e Mobilidade e Responsabilidade e Social/cognitivo do PEDI-CAT. Conclusões: Nossos achados sugerem que crianças com OI moderada/severa podem atingir o mesmo nível de funcionalidade que crianças com a forma leve. Fraturas podem ter grande influência no nível de funcionalidade e o tratamento deve enfocar a prevenção e a reabilitação desses eventos.
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INTRODUCTION: Multiple Sclerosis (MS) diagnosis can be challenging, especially in populations where the disease is rare. In Brazil, the average prevalence is 14/100,000 inhabitants, lower than the worldwide. Early treatment initiation can markedly reduce disease activity and accumulation of disability. Therefore, delayed diagnosis and access to disease modifying therapy (DMT) can have a negative impact on the course of MS. OBJECTIVES: The aim of this study was to estimate the mean time between the first relapse, the diagnosis of MS and initiation of treatment in a cohort of Brazilian MS patients. MATERIAL AND METHOD: We retrospectively analyzed the medical records of MS patients who met the 2017 McDonald diagnostic criteria followed in a MS reference center in Belo Horizonte, Minas Gerais. We assessed demographic and clinical data with focus on time to first symptom, time to diagnosis and treatment begging. The last Expanded Disability Status Scale (EDSS) was collected to access disability. The program GraphPad Prism 8.4.3. was used for the statistical analysis. RESULTS: Data of 66 patients were analyzed, 77 % (51) were women. The mean age of the first symptom, diagnosis and DMT initiation was, respectively, 30,06 (± 12,43), 35,2 (± 13,59) and 36,10 (± 13,89) years. In 32 (46,38 %) patients the diagnosis was early (<1 year of disease), in 18 (26,09 %) between 1 and 5 years and in 19 (27,54 %) after to five years. Once the diagnosis was established, 65,5 % had access to DMT within 6 months and 79,71 % in the first year. Patients with diagnosis in the two first years had their first symptom at a younger age (p < 0.05). Comparing these two groups, patients with an earlier diagnosis presented less disability (EDSS: 3,5 vs 1,5; p < 0.05). CONCLUSION: MS diagnosis can be challenging especially in low prevalence population of diseased and developing countries. Our study demonstrated the importance of early recognition of MS and its precocious intervention, impacting in reducing of disability a long term.
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BACKGROUND: The dynamic, reciprocal, and bidirectional relationships in encounters between infants and their caregivers are called early interactions. Evidence shows that these interactions influence cognitive, emotional, and social development beyond the early years. While some studies have examined these interactions in dyads with infants with Down syndrome, they have mostly focused on parents in small samples. This study explores these interactions by considering parental, infant, and interaction variables. METHODS: A total of 128 dyads participated, with 64 infants with Down syndrome and 64 typically developing infants, matched one-by-one by developmental age. During home visits, socio-demographic and developmental information was collected, development and dyadic interactions were assessed using standardised instruments. Descriptive analyses, MANOVAs, and ANOVAs were conducted comparing the group of dyads that included infants and toddler with Down syndrome and those with typical development. Infant and toddler gender showed significant differences and was included as a relevant factor in the analyses. RESULTS: Key findings include lower scores in parental sensitivity and non-directiveness in dyads with children with Down syndrome. Children with Down syndrome also showed lower scores in attention to the caregiver. Interactions with children with Down syndrome exhibited less mutuality and engagement. Significant gender-based interactions were found, showing that parents are more sensitive and less directive with girls with Down syndrome, who also show greater expression of negative affect and better attention to the caregiver. CONCLUSIONS: This study suggests different qualities in early interactions when a child with Down syndrome is involved. These interactions are characterised by lower sensitivity and greater directiveness, possibly in response to the lower attention towards the caregiver observed in these children. This results in less mutual interaction. The findings' alignment with previous research and implications for clinical work are discussed. Given the observed effect of the child's gender, future research should further explore this aspect.
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BACKGROUND: Low back pain (LBP) is one of the main causes of disability and need for rehabilitation services. It is necessary to have a better understanding about the association of sociodemographic factors with the disability related to individuals with LBP. OBJECTIVE: Assess the prevalence of LBP and its association with capacity, performance, and sociodemographic variables in Chilean population. METHODS: Cross-sectional study was performed with data from the population survey from Chile, 2015. People over 17 years old were selected for the analysis (n = 12,265 people). The variables chosen were: presence of LBP, place of living in Chile, sex, age, marital status, education, income, work status, and type of home. Capacity and performance levels were assessed by the Model Disability Survey. The population characteristics, performance, and capacity values were presented through means or frequencies. A generalized linear model with logarithmic linkage and gamma distribution was employed to assess the associations between the explanatory variables and the outcomes, considering the distribution of the variables, while adjusting for all study variables. RESULTS: 22 % of the population reported having LBP. People with LBP had worse levels of capacity and performance. Being female, older age, having worse education level, and worse health classification, were factors associated with worse capacity and performance in those with LBP. Conversely, being employed in the last week was correlated with improved capacity in this group. CONCLUSION: Individuals with LBP demonstrated poorer capacity and performance outcomes, with sociodemographic variables influencing their functioning.
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This study aims to validate the five repetition sit to stand test (5R-STS) test as a measure of strength and functionality in adolescents and adults with intellectual disabilities (ID). The sample was made up of 159 subjects with ID (85 adolescents and 74 adults) of both sexes, with average age of 18.36 (5.26) years, belonging to four special educational centers from Santiago, Chile. Absolute (AHGS) and relative (RHGS) handgrip strength and countermovement jump (CMJ) were considered as muscle strength evaluation tests. The timed up and go (TUG) and agility test 4 × 10 m were considered as functional tests. Spearman and intraclass correlations, as well as Bland-Altman plots were used to establish the respective correlations. The average values obtained in the 5R-STS test (s) in adolescents were 6.55 and 7.24, while in adults they were 6.82 and 7.17 for men and women, respectively. Significant correlations (p = < 0.05) are established between the 5R-STS test with AHGS (r= -0.48) and RHGS (r= -0.54), CMJ (-0.53), 4 × 10 m test (-0.50) and TUG (-0.49), as well as in the analysis of agreement between 5R-STS and the TUG (ICC = 0.74) and agility 4 × 10 m (ICC = 0.61) tests, both in adolescents and adults of both sexes. The 5R-STS test is a valid, simple and safe tool to evaluate general and lower extremity muscle strength. Its use is suggested as a simple measure for monitoring functional capacity by professionals in educational and health contexts for the adolescent and adult population with ID.
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Teste de Esforço , Deficiência Intelectual , Força Muscular , Humanos , Adolescente , Masculino , Feminino , Deficiência Intelectual/fisiopatologia , Deficiência Intelectual/diagnóstico , Adulto , Adulto Jovem , Força Muscular/fisiologia , Teste de Esforço/métodos , Força da Mão/fisiologia , ChileRESUMO
Sacral agenesis (SA) is a rare congenital neurological disorder characterized by the incomplete development of the sacral spine. This work summarizes the scientific literature on SA, including the following sections: pathogenesis, epidemiology, risk factors, genetics, clinical manifestations, radiological classification, diagnosis, and management. The aim of this work is to provide the most up-to-date and comprehensive medical narrative literature review for this rare congenital disease. This narrative review used PubMed, MEDLINE, Science Direct, and Embase databases. Between December 2022 and September 2023, the following terms were used for the inclusion of original articles: "rare disease," "caudal regression," "diabetic embryopathy," and "sacral agenesis.? The International Sacral Agenesis/Caudal Regression Association participated in reviewing this manuscript and drafting a paragraph on behalf of those living with this condition. The clinical manifestations of SA are heterogeneous. The most prevalent manifestations involve peripheral neurological, motor, urinary, and digestive issues. The prognosis depends on the severity and associated abnormalities. Patients usually exhibit normal mental function but require a multidisciplinary evaluation and largely supportive treatment that enables them to live successful lives. More awareness and research are needed.
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This paper explores the use of participatory video (PV) in a case study conducted in Arcoverde, Brazil, to address the call for greater participation of individuals with disabilities in health and social care planning and research. PV is grounded in similar concepts to the Disability Rights Movement's principle of "Nothing About Us, Without Us" and serves as a potential collaborative tool for individuals with disabilities to shape their narratives and contribute to research. The study was part of a multi-methods research project on healthcare access, with the PV research focusing on primary healthcare in Arcoverde. The researcher emphasizes the action-oriented and community-based approach, to foster an inclusive environment through workshops, story circles, and video-making. Ethical considerations prioritize informed consent and identity protection. The results underscore the potential empowering impact of PV, fostering community awareness and practical awareness among participants. The discussion emphasizes the ethical considerations, challenges, and the need for reflexivity in participatory video research.
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OBJECTIV: To evaluate the associations between complex hip surgery and subsequent hospitalizations in children with intellectual disability, including a subset of children with cerebral palsy. STUDY DESIGN: We: conducted a retrospective cohort study using linked administrative, health, and disability data from Western Australia. Children born between 1983 and 2009 who underwent complex hip surgery by end 2014 were included (intellectual disability, n=154; subset with cerebral palsy, n=91). A self-controlled case series analysis using Poisson regression was used to estimate the age-adjusted associations of complex hip surgery on all-cause hospitalizations and when the principal diagnosis was lower respiratory tract infection (LRTI) or epilepsy, for periods following the individual's first major hip surgery, compared with the year before surgery. RESULTS: Age adjusted incidence of all-cause hospitalizations decreased after surgery (year 1: incidence rate ratio [IRR] 0.87 [95% CI, 0.74-1.02]; year 6: IRR 0.57 [95% CI, 0.46-0.72]). The incidence of hospitalizations for LRTI increased (year 1: IRR,1.03 [95% CI, 0.72-1.51]; year 6: IRR 2.08 [95% CI, 1.18-3.68]). The incidence of hospitalizations for epilepsy decreased (year 1: IRR 0.93 [95% CI, 0.57, 1.54]; year>6: IRR 0.72 [95% CI, 0.34-1.55]) after surgery. A similar pattern was observed for the subset of children with or without cerebral palsy. CONCLUSION: Complex hip surgeries are associated with fewer hospitalizations overall but not respiratory hospitalizations for children with intellectual disability. Fewer hospitalizations suggest benefits for better musculoskeletal alignment.
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The current study presents the case of a young man with intellectual disability related to fetal alcohol syndrome, referred for forensic psychiatric examination of criminal liability following charges of armed robbery, and who was considered not criminally liable. In such cases, it is crucial to perform early diagnosis and rely on educational and developmental services and a supportive home environment to decrease complications such as substance use and criminal involvement.
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La parálisis cerebral tiene complicaciones asociadas como una baja densidad mineral ósea; esta es más acentuada a mayor compromiso motor. La bipedestación asistida ayuda a prevenir y/o a retrasar esta complicación, aunque su efecto es controversial, porque no está claro el tipo de bipedestador, el tipo de bipedestación (dinámica o estática) ni su dosificación. El objetivo de este estudio es determinar la efectividad de la bipedestación asistida en la densidad mineral ósea, en niños con parálisis cerebral. Se realizó una revisión sistemática bajo los lineamientos PRISMA, se utilizaron cinco bases de datos. Los resultados se presentaron a través de tablas, análisis de riesgo de sesgo y síntesis narrativa. Cuatro estudios cumplieron los criterios de inclusión. La bipedestación asistida genera cambios positivos en la densidad mineral ósea, pero se necesita más investigación, con estudios que tengan un mayor rigor metodológico, períodos de seguimiento más largos y que incluyan una mayor cantidad de pacientes.
Cerebral palsy is associated with complications such as low bone mineral density, which is more severe in patients with greater motor involvement. Assisted standing helps to prevent or delay this complication; however, its effect is controversial because the type of stander, the type of standing (dynamic or static), and its dosage are not clear. The objective of this study was to determine the effectiveness of assisted standing on bone mineral density in children with cerebral palsy. A systematic review was carried out in compliance with the PRISMA guidelines, using 5 databases. The results were presented using tables, a risk of bias analysis, and a narrative synthesis. Four studies met the inclusion criteria. Assisted standing generates positive changes in bone mineral density, but further research is required, with studies that have greater methodological rigor, longer follow-up periods, and a larger number of patients.