Oral dyspraxia in self-limited epilepsy with centrotemporal spikes: a comparative study with a control group / Dispraxia oral em epilepsia autolimitada com espículas centrotemporais: um estudo comparativo com grupo controle

ABSTRACT Background: self-limited epilepsy with centrotemporal spikes, previously considered benign focal childhood epilepsy with centrotemporal spikes show clinical signs of involvement of Rolandic areas, mainly lower area, which may affect the planning and execution of motor sequences. Objective: This study aimed to evaluated oral praxis in children with self-limited epilepsy with centrotemporal spikes and compare to the age-matched control group. Methods: This was a descriptive study with 74 children with self-limited epilepsy with centrotemporal spikes, with the classical forms according to International League Against Epilepsy, and between 4 and 15 years of age, selected from the child neurology outpatient clinic of the Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil, and 239 age-matched and educational level-matched (convenience sampling) control children. All children were submitted to the battery of oral volitional movements, which consisted of 44 tests for oral movement (tongue, lip, cheek, jaw, and palate) and 34 phonemes and consonant cluster tasks, with simple and sequenced oral movements. Results: The mean age and standard deviation (SD) of children with epilepsy was 9.08 years (SD 2.55) and of controls 9.61 years (SD 3.12). The results showed significant differences between the groups with a poorer performance of children with epilepsy compared to children without epilepsy in simple and particularly in sequenced movements. Conclusion: These findings can be attributed to the genetically determined immaturity of cortical structures related to motor planning in children with self-limited epilepsy with centrotemporal spikes.

RESUMO Antecedentes: Epilepsia autolimitada com descarga centrotemporal, previamente designada por epilepsia benigna focal infantil com espículas centrotemporais, mostra sinais clínicos de envolvimento de áreas rolândicas, principalmente área inferior, que podem afetar o planejamento e a execução de sequências motoras. Objetivo: Este estudo visou avaliar a práxis oral em crianças com epilepsia autolimitada com espículas centrotemporais e comparar com o grupo de controle de mesma idade e grau de escolaridade. Métodos: Tratou-se de um estudo descritivo, com 74 crianças com epilepsia autolimitada com espículas centrotemporais selecionadas no ambulatório de neurologia infantil do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil, e 239 crianças do grupo controle da mesma faixa etária e grau de escolaridade. Todas as crianças foram submetidas à bateria de tarefas de movimento oral volitivo, que inclui movimentos orais simples e sequenciados. Resultados: A idade média das crianças com epilepsia era de 9,08 anos (desvio padrão - DP 2,55) e dos controles 9,61 anos (DP 3,12). Os resultados mostraram diferenças significativas entre os grupos, com desempenho mais fraco das crianças com epilepsia em comparação ao das crianças saudáveis, em movimentos simples e particularmente em movimentos sequenciados. Conclusão: Esses resultados podem ser atribuídos à imaturidade geneticamente determinada das estruturas corticais relacionadas com o planejamento motor em crianças com epilepsia autolimitada com espículas centrotemporais.

Oral dyspraxia in self-limited epilepsy with centrotemporal spikes: a comparative study with a control group.

BACKGROUND: self-limited epilepsy with centrotemporal spikes, previously considered benign focal childhood epilepsy with centrotemporal spikes show clinical signs of involvement of Rolandic areas, mainly lower area, which may affect the planning and execution of motor sequences. OBJECTIVE: This study aimed to evaluated oral praxis in children with self-limited epilepsy with centrotemporal spikes and compare to the age-matched control group. METHODS: This was a descriptive study with 74 children with self-limited epilepsy with centrotemporal spikes, with the classical forms according to International League Against Epilepsy, and between 4 and 15 years of age, selected from the child neurology outpatient clinic of the Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil, and 239 age-matched and educational level-matched (convenience sampling) control children. All children were submitted to the battery of oral volitional movements, which consisted of 44 tests for oral movement (tongue, lip, cheek, jaw, and palate) and 34 phonemes and consonant cluster tasks, with simple and sequenced oral movements. RESULTS: The mean age and standard deviation (SD) of children with epilepsy was 9.08 years (SD 2.55) and of controls 9.61 years (SD 3.12). The results showed significant differences between the groups with a poorer performance of children with epilepsy compared to children without epilepsy in simple and particularly in sequenced movements. CONCLUSION: These findings can be attributed to the genetically determined immaturity of cortical structures related to motor planning in children with self-limited epilepsy with centrotemporal spikes.

Engagement of Language and Domain General Networks during Word Monitoring in a Native and Unknown Language.

Functional neuroimaging studies have highlighted the roles of three networks in processing language, all of which are typically left-lateralized: a ventral stream involved in semantics, a dorsal stream involved in phonology and speech production, and a more dorsal "multiple demand" network involved in many effortful tasks. As lateralization in all networks may be affected by life factors such as age, literacy, education, and brain pathology, we sought to develop a task paradigm with which to investigate the engagement of these networks, including manipulations to selectively emphasize semantic and phonological processing within a single task performable by almost anyone regardless of literacy status. In young healthy participants, we administered an auditory word monitoring task, in which participants had to note the occurrence of a target word within a continuous story presented in either their native language, Portuguese, or the unknown language, Japanese. Native language task performance activated ventral stream language networks, left lateralized but bilateral in the anterior temporal lobe. Unfamiliar language performance, being more difficult, activated left hemisphere dorsal stream structures and the multiple demand network bilaterally, but predominantly in the right hemisphere. These findings suggest that increased demands on phonological processing to accomplish word monitoring in the absence of semantic support may result in the bilateral recruitment of networks involved in speech perception under more challenging conditions.

Swallowing in behavioral variant frontotemporal dementia.

BACKGROUND: Swallowing and feeding problems may occur with the progression of behavioral variant frontotemporal dementia (bvFTD) and can impair the anticipatory and oral preparatory phases of swallowing. OBJECTIVE: To characterize swallowing problems and the feeding situation of patients with bvFTD and to correlate the swallowing problems with functionality, executive functions, cognitive and behavioral features. METHODS: Consecutive outpatients with bvFTD in mild, moderate and severe dementia stages were recruited along with their caregivers. Patients and caregivers were screened with the following scales: "Mini-Mental State Examination", "Severe Mini-Mental State Examination", "FTLD-modified Clinical Dementia Rating", "Neuropsychiatric Inventory", "Frontal Assessment Battery", "Index of Independence in Activities of Daily Living", "Swallowing Rating Scale" and "Assessment of Feeding and Swallowing Difficulties in Dementia". RESULTS: Overall, thirty patients with bvFTD were included along with their caregivers. Patients with bvFTD showed feeding and swallowing difficulties such as: messy to eat, passivity, coughing and choking, difficulty with some food consistencies and with specific food. Swallowing problems in bvFTD correlated with impaired functionality (p<0.05) and cognition (p<0.05), executive dysfunction (p<0.01) and behavioral features (p<0.01). Caregivers had great difficulty in managing the feeding situation during mealtime, with different characteristics in each dementia stage. CONCLUSION: Patients with bvFTD had inappropriate speed eating, passivity, coughing and choking starting in the mild dementia stage, and these problems worsen in the severe stage. Such difficulties affected caregiver performance during mealtime. The correlations indicated that swallowing difficulties tend to follow cognitive and behavioral decline in patients with bvFTD.

Swallowing in behavioral variant frontotemporal dementia / Deglutição na variante comportamental da demência frontotemporal

ABSTRACT Background: Swallowing and feeding problems may occur with the progression of behavioral variant frontotemporal dementia (bvFTD) and can impair the anticipatory and oral preparatory phases of swallowing. Objective: To characterize swallowing problems and the feeding situation of patients with bvFTD and to correlate the swallowing problems with functionality, executive functions, cognitive and behavioral features. Methods: Consecutive outpatients with bvFTD in mild, moderate and severe dementia stages were recruited along with their caregivers. Patients and caregivers were screened with the following scales: "Mini-Mental State Examination", "Severe Mini-Mental State Examination", "FTLD-modified Clinical Dementia Rating", "Neuropsychiatric Inventory", "Frontal Assessment Battery", "Index of Independence in Activities of Daily Living", "Swallowing Rating Scale" and "Assessment of Feeding and Swallowing Difficulties in Dementia". Results: Overall, thirty patients with bvFTD were included along with their caregivers. Patients with bvFTD showed feeding and swallowing difficulties such as: messy to eat, passivity, coughing and choking, difficulty with some food consistencies and with specific food. Swallowing problems in bvFTD correlated with impaired functionality (p<0.05) and cognition (p<0.05), executive dysfunction (p<0.01) and behavioral features (p<0.01). Caregivers had great difficulty in managing the feeding situation during mealtime, with different characteristics in each dementia stage. Conclusion: Patients with bvFTD had inappropriate speed eating, passivity, coughing and choking starting in the mild dementia stage, and these problems worsen in the severe stage. Such difficulties affected caregiver performance during mealtime. The correlations indicated that swallowing difficulties tend to follow cognitive and behavioral decline in patients with bvFTD.

RESUMO Introdução: Os problemas na situação de alimentação e deglutição podem ocorrer com a progressão da variante comportamental da demência frontotemporal (DFT-vc) e alterar as fases antecipatória e preparatória oral da deglutição. Objetivo: Caracterizar os problemas de deglutição e a situação de alimentação de pacientes com DFT-vc e correlacionar os problemas de deglutição com a funcionalidade, funções executivas, aspectos cognitivos e comportamentais. Métodos: Foram recrutados pacientes ambulatoriais com DFT-vc nas fases leve, moderada e grave da demência, e seus respectivos cuidadores. Os pacientes e cuidadores foram avaliados com as escalas: "Mini-Exame do Estado Mental", "Mini-Exame do Estado Mental Grave", "Escala de Avaliação Clínica da Demência Modificada - DFT", "Inventário Neuropsiquiátrico", "Bateria de Avaliação Frontal", "Índice de Independência nas Atividades da Vida Diária", "Escala Funcional de Avaliação da Deglutição" e "Avaliação das Dificuldades de Alimentação e Deglutição na Demência". Resultados: Foram incluídos 30 pacientes com DFT-vc, e seus cuidadores. Pacientes com DFT-vc apresentaram dificuldades de alimentação e deglutição como: confusão na alimentação, passividade, tosse e asfixia, dificuldades com algumas consistências alimentares e alimentos específicos. Problemas de deglutição na DFT-vc correlacionaram-se com funcionalidade prejudicada (p<0,05) e cognição (p<0,05), disfunção executiva (p<0,01) e características comportamentais (p<0,01). Os cuidadores tiveram grande dificuldade em gerenciar a situação de alimentação diante de diferentes problemas em cada fase da demência. Conclusão: Pacientes com DFT-vc apresentaram velocidade de alimentação inapropriada, passividade, tosse e engasgos já na fase leve da doença, com piora na fase grave. As correlações indicaram que as alterações de deglutição tendem a seguir o declínio cognitivo e comportamental na DFT-vc.

Inference comprehension from reading in individuals with mild cognitive impairment.

Inference comprehension is a complex ability that recruits distinct cognitive domains, such as language, memory, attention, and executive functions. Therefore, it might be sensitive to identify early deficits in subjects with MCI. To compare the performance of subjects with mild cognitive impairment (MCI) in an inference reading comprehension task, and to analyze the correlations between inferential comprehension and other cognitive functions. We studied 100 individuals aged 60 and over, divided into MCI (50) [aMCI (35), naMCI (15)], and cognitively healthy individuals [controls (50)]. The Implicit Management Test (IMT) was used to assess inference in reading comprehension in five categories: explicit, logical, distractor, pragmatic, and "others". MCI group performed worse than controls in logical, pragmatic, distractor, and "others" questions (p < 0.01). The aMCI and naMCI subgroups presented a similar performance in all types of questions (p > 0.05). We observed significant correlations between the total IMT score and the TMT-A in the naMCI group (r = - 0.562, p = 0.036), and the Rey-Osterrieth Complex Figure and RAVLT tasks in the aMCI group (r = 0.474, p = 0.010 and r = 0.593, p = 0.0001, respectively). The MCI group as a whole performed worse than controls on the logical, pragmatic, other and distractor questions, and consequently on the total score. There were no differences in explicit questions, which impose lower inferential demands. The aMCI group suffered a significant impact from memory on inference comprehension, and difficulties in executive functions impacted naMCI performance. The IMT was useful to differentiate MCI patients from cognitively healthy individuals, but not MCI subgroups among themselves.

Treatment of agrammatism in oral and written production in patients with Broca's aphasia The use of implicit and explicit learning.

Several approaches to the rehabilitation of agrammatism use implicit and explicit learning methods. OBJECTIVE: To verify the effect of adapted Mapping Therapy and ORLA methods (explicit versus implicit learning) on the oral and written production in spontaneous language among agrammatic patients with Broca's aphasia. METHODS: Six individuals were submitted to Mapping Therapy and ORLA (Oral Reading for Language in Aphasia) treatments. Samples of oral and written production from a picture description task were compared pre and post-treatment. RESULTS: In Mapping Therapy, the patients presented better performance after the training for the variables related to written production: number of words, nouns, verbs, closed-class words, and number of complete sentences. Regarding oral output, the patients had similar performance before and after the therapeutic process. In ORLA, the patients presented a significant difference before and after the therapeutic process in the variables related to oral production, increasing the number of words, number of verbs, and speech rate. There was no difference in pre and post-treatment performance in written production. CONCLUSION: Both implicit and explicit learning can be used in the treatment of agrammatism. Mapping Therapy was more effective for the treatment of agrammatism in written production, while ORLA was more effective for the agrammatism in oral production.

Várias abordagens terapêuticas para a reabilitação do agramatismo utilizam métodos implícitos e explícitos de aprendizado. OBJETIVO: Verificar o efeito dos métodos adaptados Mapping Therapy e ORLA (aprendizagem explícita versus implícita) na produção oral e escrita de discurso em pacientes agramáticos com afasia de Broca. MÉTODOS: Seis indivíduos foram submetidos aos tratamentos Mapping Therapy e ORLA. Amostras das produções oral e escrita na tarefa de descrição da prancha foram comparadas antes e após o tratamento. RESULTADOS: No método Mapping Therapy, os pacientes apresentaram melhor desempenho após o tratamento nas seguintes variáveis ​​relacionadas à produção escrita: número de palavras, substantivos, verbos, palavras de classe fechada e número de frases completas. Em relação à emissão oral, os pacientes mantiveram desempenho semelhante pré e pós processo terapêutico. No método ORLA, os pacientes apresentaram diferença significativa antes e após o processo terapêutico nas variáveis ​​relacionadas à produção oral, com aumento no número de palavras, número de verbos e velocidade de fala. Não houve diferença no desempenho pré e pós tratamento na produção escrita. CONCLUSÃO: Tanto a aprendizagem implícita como a explícita têm o potencial de serem usadas no tratamento do agramatismo. A Mapping Therapy foi mais eficaz no tratamento do agramatismo na produção escrita, enquanto o ORLA foi mais eficaz para o agramatismo na produção oral.

Treatment of agrammatism in oral and written production in patients with Brocas aphasia The use of implicit and explicit learning / Tratamento do agramatismo na produção oral e escrita em pacientes com afasia de Broca: uso do aprendizado implícito e explícito

Abstract. Several approaches to the rehabilitation of agrammatism use implicit and explicit learning methods. Objective: To verify the effect of adapted Mapping Therapy and ORLA methods (explicit versus implicit learning) on the oral and written production in spontaneous language among agrammatic patients with Broca's aphasia. Methods: Six individuals were submitted to Mapping Therapy and ORLA (Oral Reading for Language in Aphasia) treatments. Samples of oral and written production from a picture description task were compared pre and post-treatment. Results: In Mapping Therapy, the patients presented better performance after the training for the variables related to written production: number of words, nouns, verbs, closed-class words, and number of complete sentences. Regarding oral output, the patients had similar performance before and after the therapeutic process. In ORLA, the patients presented a significant difference before and after the therapeutic process in the variables related to oral production, increasing the number of words, number of verbs, and speech rate. There was no difference in pre and post-treatment performance in written production. Conclusion: Both implicit and explicit learning can be used in the treatment of agrammatism. Mapping Therapy was more effective for the treatment of agrammatism in written production, while ORLA was more effective for the agrammatism in oral production.

Resumo. Várias abordagens terapêuticas para a reabilitação do agramatismo utilizam métodos implícitos e explícitos de aprendizado. Objetivo: Verificar o efeito dos métodos adaptados Mapping Therapy e ORLA (aprendizagem explícita versus implícita) na produção oral e escrita de discurso em pacientes agramáticos com afasia de Broca. Métodos: Seis indivíduos foram submetidos aos tratamentos Mapping Therapy e ORLA. Amostras das produções oral e escrita na tarefa de descrição da prancha foram comparadas antes e após o tratamento. Resultados: No método Mapping Therapy, os pacientes apresentaram melhor desempenho após o tratamento nas seguintes variáveis ​​relacionadas à produção escrita: número de palavras, substantivos, verbos, palavras de classe fechada e número de frases completas. Em relação à emissão oral, os pacientes mantiveram desempenho semelhante pré e pós processo terapêutico. No método ORLA, os pacientes apresentaram diferença significativa antes e após o processo terapêutico nas variáveis ​​relacionadas à produção oral, com aumento no número de palavras, número de verbos e velocidade de fala. Não houve diferença no desempenho pré e pós tratamento na produção escrita. Conclusão: Tanto a aprendizagem implícita como a explícita têm o potencial de serem usadas no tratamento do agramatismo. A Mapping Therapy foi mais eficaz no tratamento do agramatismo na produção escrita, enquanto o ORLA foi mais eficaz para o agramatismo na produção oral.

Massive activity of cytotoxic cells during refractory Neuromyelitis Optica spectrum disorder.

Our group is interested in the cytotoxic mechanism during autoimmune neuroinflammation. Unexpectedly, we come across a case that presents a massive enhancement of cytotoxic behavior in lymphocytes, either in peripheral blood and cerebrospinal fluid. Interestingly, this specific patient was refractory to Methylprednisolone treatment. Hypothetically, the cytotoxic activity could represent a novel and complementary effector mechanism to NMOSD pathogenesis. Nevertheless, further investigation is needed to evaluate the extension and the clinical relevance of our finds.

Migraine in 746 patients with multiple sclerosis.

Migraine adds to the burden of patients suffering from multiple sclerosis (MS). The ID-migraine is a useful tool for screening migraine, and the Migraine Disability Assessment questionnaire can evaluate disease burden. The aim of the present study was to assess the presence and burden of migraine in patients with MS. METHODS Patients diagnosed with MS attending specialized MS units were invited to answer an online survey if they also experienced headache. RESULTS The study included 746 complete responses from patients with MS and headache. There were 625 women and 121 men, and 69% of all the patients were aged between 20 and 40 years. Migraine was identified in 404 patients (54.1%) and a moderate-to-high burden of disease was observed in 68.3% of the patients. CONCLUSION Migraine is a frequent and disabling type of primary headache reported by patients with MS.

Migraine in 746 patients with multiple sclerosis / Enxaqueca em 746 pacientes com esclerose múltipla

ABSTRACT Migraine adds to the burden of patients suffering from multiple sclerosis (MS). The ID-migraine is a useful tool for screening migraine, and the Migraine Disability Assessment questionnaire can evaluate disease burden. The aim of the present study was to assess the presence and burden of migraine in patients with MS. Methods: Patients diagnosed with MS attending specialized MS units were invited to answer an online survey if they also experienced headache. Results: The study included 746 complete responses from patients with MS and headache. There were 625 women and 121 men, and 69% of all the patients were aged between 20 and 40 years. Migraine was identified in 404 patients (54.1%) and a moderate-to-high burden of disease was observed in 68.3% of the patients. Conclusion: Migraine is a frequent and disabling type of primary headache reported by patients with MS.

RESUMO Enxaqueca piora o sofrimento do paciente que tem esclerose múltipla (EM). ID-migraine é uma ferramenta útil para seleção de pacientes com enxaqueca e Migraine Disability Assessment (MIDAS) é um questionário que avalia o impacto da doença. O objetivo do presente estudo foi avaliar a presença e impacto de enxaqueca em pacientes com EM. Métodos: Pacientes diagnosticados com EM e tratados em clínicas especializadas foram convidados a responder um questionário online se também apresentassem cefaleia. Resultados: O estudo incluiu 746 participantes com cefaleia e EM que preencheram completamente as respostas. Foram 625 mulheres e 121 homens, sendo 69% dos pacientes com idade entre 20 e 40 anos. Enxaqueca foi identificada em 404 pacientes (54,1%) e moderado a grave impacto da doença foi observado em 68,3% dos casos. Conclusão: Enxaqueca é uma cefaleia primária frequente e incapacitante relatada por pacientes com EM.

Polymorphisms in the CIITA -168A/G (rs3087456) and CIITA +1614G/C (rs4774) may influence severity in multiple sclerosis patients.

It is currently unknown how genetic factors may influence the clinical course of multiple sclerosis (MS). OBJECTIVE: We examined the impact of CIITA polymorphisms -168A/G (rs3087456) and +1614G/C (rs4774) on the risk of disability progression, severity and on responses to first-line immunomodulator treatments. METHODS: Genomic DNA was extracted from blood samples. We used ABI3730xl and GeneMapper v.4.0 software to identify genotype variations. All patients were followed up and clinically reassessed at three-month intervals. Disability progression was measured by the Expanded Disability Status Scale and disease severity by the Multiple Sclerosis Spasticity Scale (MSSS). RESULTS: We included 37 men and 80 women. We found no evidence regarding the influence of the single nucleotide polymorphisms studied in the Expanded Disability Status Scale or therapeutic response of the evaluated drugs. We performed a logistic regression analysis with the MSSS and found that a less severe MS course was associated with wild type CIITA -168AA and CIITA +1614GG, as the chance of the patient progressing to MSSS2 and MSSS3 decreased in 61% and 75% with CIITA -168AA and 66% and 75% with CIITA +1614GG, respectively (p < 0.0001). Although less significant, the CIITA +1614 GC also pointed to a less severe MS course and the chance of the patient progressing to MSSS3 decreased 79% (p = 0.015). We also observed that the CIITA -168GG genotype was more frequent in MSSS2 and MSSS3 and had 40% lower odds ratio to becoming more severe MS. CONCLUSION: These data suggest that CIITA -168AA, CIITA +1614GG and CIITA +1614 GC polymorphisms may be associated with a better MS clinical course. This knowledge may be useful for a better understanding of MS and its therapeutic management.

Polymorphisms in the CIITA -168A/G (rs3087456) and CIITA +1614G/C (rs4774) may influence severity in multiple sclerosis patients / Os polimorfismos no gene CIITA - 168A/G (rs3087456) e CIITA +1614G/C (rs4774) podem influenciar a gravidade em pacientes com esclerose múltipla

ABSTRACT It is currently unknown how genetic factors may influence the clinical course of multiple sclerosis (MS). Objective: We examined the impact of CIITA polymorphisms −168A/G (rs3087456) and +1614G/C (rs4774) on the risk of disability progression, severity and on responses to first-line immunomodulator treatments. Methods: Genomic DNA was extracted from blood samples. We used ABI3730xl and GeneMapper v.4.0 software to identify genotype variations. All patients were followed up and clinically reassessed at three-month intervals. Disability progression was measured by the Expanded Disability Status Scale and disease severity by the Multiple Sclerosis Spasticity Scale (MSSS). Results: We included 37 men and 80 women. We found no evidence regarding the influence of the single nucleotide polymorphisms studied in the Expanded Disability Status Scale or therapeutic response of the evaluated drugs. We performed a logistic regression analysis with the MSSS and found that a less severe MS course was associated with wild type CIITA −168AA and CIITA +1614GG, as the chance of the patient progressing to MSSS2 and MSSS3 decreased in 61% and 75% with CIITA −168AA and 66% and 75% with CIITA +1614GG, respectively (p < 0.0001). Although less significant, the CIITA +1614 GC also pointed to a less severe MS course and the chance of the patient progressing to MSSS3 decreased 79% (p = 0.015). We also observed that the CIITA −168GG genotype was more frequent in MSSS2 and MSSS3 and had 40% lower odds ratio to becoming more severe MS. Conclusion: These data suggest that CIITA −168AA, CIITA +1614GG and CIITA +1614 GC polymorphisms may be associated with a better MS clinical course. This knowledge may be useful for a better understanding of MS and its therapeutic management.

RESUMO Atualmente não se sabe como os fatores genéticos podem influenciar o curso clínico da esclerose múltipla (EM). Objetivo: Examinamos o impacto dos polimorfismos CIITA −168A/G (rs3087456) e CIITA +1614G/C (rs4774) no risco de progressão da incapacidade, gravidade e resposta aos tratamentos imunomoduladores de primeira linha. Métodos: O DNA genômico foi extraído de amostras de sangue. Utilizamos o software ABI3730xl e GeneMapper v.4.0 (Applied Biosystems) para identificar variações genotípicas. Todos os pacientes foram acompanhados e reavaliados clinicamente em intervalos de três meses. A progressão da incapacidade foi medida pela EDSS e a gravidade da doença pelo MSSS. Resultados: Incluímos 37 homens e 80 mulheres. Não encontramos evidências sobre a influência dos SNPs estudados no EDSS e na resposta terapêutica aos fármacos avaliados. Realizamos uma análise de regressão logística com o MSSS e observamos uma evolução menos grave da EM associada aos tipos selvagens CIITA −168AA e CIITA +1614GG, pois a chance do paciente atingir MSSS2 e MSSS3 diminuiu em 61%/75%, e 66/75% respectivamente (p < 0,0001). Embora menos significativo, o CIITA +1614GC também foi relacionado com evolução menos grave da EM e a chance do paciente atingir o MSSS3 diminuiu 79% (p = 0,015). Nós também observamos que o genótipo CIITA −168GG foi mais frequente no MSSS2 e MSSS3 e teve uma razão de chance 40% menor para atingir forma mais grave da EM. Conclusão: Estes dados sugerem que os polimorfismos CIITA −168AA, CIITA +1614GG e CIITA +1614GC podem estar associados a um melhor curso clínico da EM. Este conhecimento pode ser útil para uma melhor compreensão da EM e o seu manejo terapêutico.

Quanti-qualitative components of the semantic verbal fluency test in cognitively healthy controls, mild cognitive impairment, and dementia subtypes.

This study is aimed to evaluating the underlying cognitive strategies used during Semantic Verbal Fluency (SVF) performance and comparing the differences between cognitively healthy controls (CHC), amnestic and amnestic-multiple domain mild cognitive impairment (a-MCI and a-md-MCI), Alzheimer's disease (AD), Lewy body dementia (LBD), and behavioral variant frontotemporal dementia (bvFTD). The cross-sectional study comprised 236 participants involving 78 CHC individuals, 33 a-MCI and 48 a-md-MCI, 39 AD, 22 LBD, and 16 bvFTD patients. Scores differed significantly when comparing CHC with dementia groups, showing medium to large variances. The best components in distinguishing between CHC and the dementia groups were the SVF-Total score and SVF-Cluster Size variables. CHC showed different performance in the SVF-Cluster Size variable compared with a-md-MCI, AD, and bvFTD; whereas, in the SVF-Mean Cluster Size, CHC differed from MCI's, AD, and LBD. The switching component displayed smaller capacity to differentiate between the clinical groups. The effect size was large comparing AD with bvFTD (1.267) and medium comparing AD with LBD (0.689) using the SVF-Cluster Size variable, but small using the other variables for the comparisons between dementia groups. Quanti-qualitative examination of the SVF may provide a valuable clue in distinguishing CHC from MCI and different dementia subtypes.

Lifestyle Patterns as a Modifiable Risk Factor for Late-life Cognitive Decline: A Narrative Review Regarding Dementia Prevention.

BACKGROUND: Dementias due to neurodegenerative disorders and more specifically, Alzheimer's disease (AD) are the most frequent of all diseases within the industrialized world. Besides this alarming fact, it is noted too that almost three-quarter of people with AD reside in low or middle- income nations. In recent years, cognitive and behavioral neuroscientists have focused on a possible correlation between environmental agents and genetic risk factors for these dementias. METHODS: In this narrative review, a close review of Medical Literature Analysis and Retrieval System was conducted. The authors aimed at analyzing possible interactions between lifestyle patterns and major risk factors responsible for cognitive decline and dementia, considering that the prevention or treatment of midlife modifiable risks may possibly reduce population-wide late-life pathological neurodegeneration. RESULTS: This review focuses on modifiable risk factors for late-life cognitive decline. A growing number of studies have indicated that the impact of genetics and epigenetic factors on dementia risk is dependent on different lifestyle factors, ranging from leisure activities and nutritional habits, through to social interaction and toxic exposure. CONCLUSION: Despite all evidence regarding modifiable risk factors possibly reducing the risk of developing dementia in later life, many unanswered questions remain regarding the direct influence of these variables in later life. People who regularly and actively participate in different lifelong activities (social, cultural and intellectual) do tend to perform better on formal cognitive tests, experience fewer cognitive complaints, and are less likely to develop neurodegenerative disorders.

Linguistic abilities in major vascular cognitive impairment: a comparative study with Alzheimer's disease.

We assessed the linguistic abilities of multi-infarct (cortical) dementia and subcortical ischemic vascular dementia (VaD) patients and compared the linguistic performance of VaD and Alzheimer's Disease (AD) patients. A total of 23 VaD patients, 20 mild AD patients, and 31 controls participated in the study. All were evaluated using the Arizona Battery for Communication Disorders of Dementia (ABCD). Neuropsychological testing was performed to ascertain that VaD and AD patients had comparable cognitive performance. Both dementia groups performed more poorly than controls in the ABCD measures, except for the comparative question subtest. Comparison between VaD and AD patients showed statistically significant differences only in the confrontation naming subtest (p < 0.05), where paraphasias and visual errors were the most prevalent. AD patients showed a trend towards more circumlocution errors than VaD patients (p = 0.0483). When compared to controls, linguistic abilities of VaD patients were impaired in all measures of linguistic expression and linguistic comprehension, except for the comparative question subtest. Linguistic differences between VaD and AD patients were observed only in the confrontation naming subtest.

Inference comprehension in text reading: Performance of individuals with right- versus left-hemisphere lesions and the influence of cognitive functions.

BACKGROUND: Right-hemisphere lesions (RHL) may impair inference comprehension. However, comparative studies between left-hemisphere lesions (LHL) and RHL are rare, especially regarding reading comprehension. Moreover, further knowledge of the influence of cognition on inferential processing in this task is needed. OBJECTIVES: To compare the performance of patients with RHL and LHL on an inference reading comprehension task. We also aimed to analyze the effects of lesion site and to verify correlations between cognitive functions and performance on the task. METHODS: Seventy-five subjects were equally divided into the groups RHL, LHL, and control group (CG). The Implicit Management Test was used to evaluate inference comprehension. In this test, subjects read short written passages and subsequently answer five types of questions (explicit, logical, distractor, pragmatic, and other), which require different types of inferential reasoning. The cognitive functional domains of attention, memory, executive functions, language, and visuospatial abilities were assessed using the Cognitive Linguistic Quick Test (CLQT). RESULTS: The LHL and RHL groups presented difficulties in inferential comprehension in comparison with the CG. However, the RHL group presented lower scores than the LHL group on logical, pragmatic and other questions. A covariance analysis did not show any effect of lesion site within the hemispheres. Overall, all cognitive domains were correlated with all the types of questions from the inference test (especially logical, pragmatic, and other). Attention and visuospatial abilities affected the scores of both the RHL and LHL groups, and only memory influenced the performance of the RHL group. CONCLUSIONS: Lesions in either hemisphere may cause difficulties in making inferences during reading. However, processing more complex inferences was more difficult for patients with RHL than for those with LHL, which suggests that the right hemisphere plays an important role in tasks with higher comprehension demands. Cognition influences inferential processing during reading in brain-injured subjects.

Auditory Processing Performance of the Middle-Aged and Elderly: Auditory or Cognitive Decline?

BACKGROUND: Despite the well-established relationship between aging and auditory processing decline, identifying the extent to which age effect is the main factor on auditory processing performance remains a great challenge due to the co-occurrence of age-related hearing loss and age-related cognitive decline as potential confounding factors. PURPOSE: To investigate the effects of age-related hearing loss and working memory on the clinical evaluation of auditory processing of middle-aged and elderly. RESEARCH DESIGN: Cross-sectional study. STUDY SAMPLE: A total of 77 adults between 50 and 70 yr of age were invited to participate in the study. DATA COLLECTION AND ANALYSIS: The participants were recruited from a larger study that focused on the assessment and management of sensory and cognitive skills in elderly participants. Only participants with normal hearing or mild-to-moderate age-related hearing loss, with no evidence of cognitive, psychological, or neurological conditions were included. Speech-in-noise, dichotic digit, and frequency pattern tests were conducted as well as a working memory test. The hearing loss effect was investigated using an audibility index, calculated from the audiometric threshold. The performance on the digit span test was used to investigate working memory effects. Both hearing loss and working memory effects were investigated via correlation and regression analyses, partialling out age effects. The significance level was set at p < 0.05. RESULTS: The results demonstrated that, while hearing loss was associated to the speech-in-noise performance, working memory was associated to the frequency pattern and dichotic digit performances. Regression analyses confirmed the relative contribution of hearing loss to the variance in speech-in-noise and working memory test to the variance in frequency pattern and dichotic digit test performance. CONCLUSIONS: The performance decline of the elderly in auditory processing tests may be partially attributable to the working memory performance and, consequently, to the cognitive decline exhibited by this population. Mild-to-moderate hearing loss seems to affect performance on specific auditory processing tasks, such as speech in noise, reinforcing the idea that auditory processing disorder in the elderly might also be associated to auditory peripheral deficits.

Analysis of macrolinguistic aspects of narratives from individuals with Alzheimer's disease, mild cognitive impairment, and no cognitive impairment.

INTRODUCTION: The depiction of features in discourse production promotes accurate diagnosis and helps to establish the therapeutic intervention in cognitive impairment and dementia. We aimed to identify alterations in the macrolinguistic aspects of discourse using a new computational tool. METHODS: Sixty individuals, aged 60 years and older, were distributed in three different groups: mild Alzheimer's disease (mAD), amnestic mild cognitive impairment, and healthy controls. A narrative created by individuals was analyzed through the Coh-Metrix-Dementia program, extracting the features of interest automatically. RESULTS: mAD showed worse overall performance compared to the other groups: less informative discourse, greater impairment in global coherence, greater modalization, and inferior narrative structure. It was not possible to discriminate between amnestic mild cognitive impairment and healthy controls. DISCUSSION: Our results are in line with the literature, verifying a pathological change in the macrostructure of discourse in mAD.

Educational status influences cognitive-motor learning in older adults: going to university provides greater protection against aging than going to high school.

OBJECTIVE: To investigate if middle-aged and older adults with a higher education would differ from those with an average education in cognitive-motor tasks involving lower limb function. METHODS: A walking version of the Trail Making Test (Walking Executive Function Task, [WEFT]) was used. Eighty volunteers (40: 50-65 years; 40: 66-80 years) were subdivided into average (6-11years of education) and higher education (12-17 years). They received two training sessions (session 1: eight repetitions, session 2: four repetitions), with a one week-interval between them. The Timed Up and Go (TUG) test was performed before and after the training. RESULTS: Volunteers with an average education showed longer times on the WEFT than those with a higher education. Older adults showed lower retention than middle-aged adults (p < 0.001). The TUG was faster after the WEFT training (p < 0.001). CONCLUSION: The impact of education was observed when locomotion was associated with cognitive tasks. Average education resulted in poorer performance and learning than higher education, mainly in older adults. Gait speed increased after training.