Características Cognitivas e Comportamentais Associadas à Distrofia Muscular de Duchenne: Revisão Integrativa / Cognitive and Behavioral Characteristics Associated with Duchenne Muscular Dystrophy: Integrative Review / Características Cognitivas y de Comportamiento Asociadas con la Distrofia Muscular de Duchenne: Revisión Integrativa

A Distrofia Muscular de Duchenne (DMD) é uma doença neuromuscular progressiva recessiva causada por mutações genéticas ligadas ao cromossomo X. Além do enfraquecimento muscular progressivo, a condição é associada a alterações neuropsicológicas. O objetivo deste estudo foi realizar uma revisão sistematizada da temática, para investigar os aspectos cognitivos e comportamentais associados à DMD pela literatura, nos últimos dez anos (2011-2021). Realizou-se uma revisão integrativa da literatura, com o propósito de sintetizar e analisar o conhecimento sobre o tema no campo científico, sendo efetuada busca nas bases de dados e motores de busca Science Direct, SciELO, PubMed e BVS. Após consideração dos critérios de inclusão e exclusão, foram selecionados 29 artigos para análise. Os resultados endossaram que alterações cognitivas e do neurodesenvolvimento, bem como de problemas comportamentais parecem ser mais prováveis na DMD, em comparação com a população geral. Verificou-se escassez de estudos empíricos brasileiros e a necessidade de avaliar e intervir nos âmbitos neuropsicológico e psicossocial, de forma precoce, contínua e multidisciplinar, no intuito de atender às necessidades desse grupo.

Duchenne Muscular Dystrophy (DMD) is a recessive progressive neuromuscular disease caused by X-linked genetic mutations. In addition to progressive muscle weakness, the condition is associated with neuropsychological alterations. The aim of this study was to perform a systematic review about the theme, to investigate the cognitive and behavioral aspects associated with DMD in the literature, over the last ten years (2011-2021). An integrative literature review was carried out, with the purpose of synthesizing and analyzing the knowledge on the subject in the scientific field, with a search in the databases and search engines Science Direct, SciELO, PubMed and BVS. After considering the inclusion and exclusion criteria, 29 articles were selected for analysis. The results endorsed that cognitive and neurodevelopmental alterations and behavioral problems seem to be more likely in DMD, when compared to the general population. There was a lack of brazilian empirical studies and the need to assess and intervene in the neuropsychological and psychosocial spheres was observed, in an early, continuous and multidisciplinary way, in order to meet the needs of this group.

La distrofia muscular de Duchenne (DMD) es una enfermedad neuromuscular progresiva recesiva causada por mutaciones genéticas ligadas al cromosoma X. Además de la debilidad muscular progresiva, la afección se asocia con cambios neuropsicológicos. El objetivo de este estudio fue realizar una revisión sistemática del tema, para investigar los aspectos cognitivos y conductuales asociados a la DMD en la literatura, en los últimos diez años (2011-2021). Se realizó una revisión integradora de la literatura, con el propósito de sintetizar y analizar el conocimiento sobre el tema en el campo científico, mediante una búsqueda en las bases de datos y motores de búsqueda Science Direct, SciELO, PubMed y BVS. Después de considerar los criterios de inclusión y exclusión, se seleccionaron 29 artículos para su análisis. Los resultados respaldaron que alteraciones cognitivas y del neurodesarrollo, así como problemas del comportamiento parecen ser más probables en la DMD en comparación con la población general. Se observó la escasez de estudios empíricos brasileños, así como la necesidad de evaluar e intervenir en los ámbitos neuropsicológico y psicosocial, de forma precoz, continua y multidisciplinar, para atender las necesidades de esta población.

Effects of home-based physical exercise programs on cognition in older adults: an integrative review / Efeitos de programas de exercícios físicos domiciliares na cognição de idosos: uma revisão integrativa

This study sought to review randomized clinical trials of home-based physical exercises and their effects on cognition in older adults. An integrative review was carried out after searching the PubMed, Google Scholar, MEDLINE, LILACS, SciELO, and PEDro databases. The risk of bias of the included randomized controlled trials was assessed using the PEDro Scale. Fourteen studies were included, with an average PEDro score of 6.1±1.7 (range, 3 to 9) points. Overall, the studies found that interventions consisting of home-based physical exercise programs, whether strength training alone or combined with aerobic and balance exercises, performed three times a week in 60-minute sessions for a minimum duration of 8 weeks, contribute to cognitive performance in older adults, with particular impact on executive function. We conclude that home-based physical exercises constitute a strategy to minimize the negative implications associated with cognitive impairment in older adults

Este estudo buscou revisar ensaios clínicos randomizados com exercícios físicos domiciliares e seus efeitos na cognição de idosos. Foi feita uma revisão integrativa com seleção nas bases de dados PubMed, Google Scholar, MEDLINE, LILACS, SciELO e PEDro. A avaliação do risco de viés dos ensaios clínicos randomizados incluídos foi feita usando a Escala PEDro. Catorze estudos foram incluídos, cuja pontuação dos artigos na escala PEDro foi em média de 6,1±1,7 pontos, com a pontuação total variando de 3 a 9. De forma geral, os estudos apontaram que a intervenção com programas de exercícios domiciliares de treino de força isolado ou combinado com exercícios aeróbio e de equilíbrio, realizado três vezes na semana com 60 minutos por sessão e duração mínima de oito semanas, contribui para o desempenho cognitivo de idosos, especialmente sobre a função executiva. Concluiu-se que exercícios domiciliares se apresentam como uma estratégia para minimizar as consequências negativas associadas ao déficit cognitivo em idosos

Cognitive impairment among older adults with HIV: a systematic review protocol of cohort studies / Transtornos cognitivos em idosos vivendo com HIV: protocolo de revisão sistemática com estudos de coorte

OBJECTIVES: This review will determine whether the incidence of cognitive impairment in HIV patients aged ≥ 50 years is greater than that of their HIV-negative peers. METHODS: The MEDLINE, EMBASE, LILACS, Web of Science, and Scopus databases will be searched for studies with a sample of individuals aged ≥ 50 years or a mixed population with ≥ 50% aged ≥ 50 years). It will include studies that evaluate seropositive patients compared to and an unexposed control group. STUDY DESIGN: Cohort studies with follow-up ≥ 24 months will be included. Three reviewers will independently screen for eligibility criteria, extract data, and assess the risk of bias in the included studies, as well as evaluate the overall quality of evidence. A narrative synthesis will be prepared according to synthesis without meta-analysis guidelines. EXPECTED RESULTS: We expect to find correlations between older age, HIV, and cognitive impairment. RELEVANCE: The association of geriatric syndromes and HIV is becoming an important field of study. Increased life expectancy accompanied by an active sex life is contributing to this public health problem. This protocol is reported according to the Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols and is registered in PROSPERO (CRD42022321914). This study was financed in part by the CAPES foundation (financial code: 001)

OBJETIVOS: Esta revisão abordará o questionamento: a incidência de comprometimento cognitivo é maior em pacientes com 50 anos ou mais com o vírus da imunodeficiência humana do que em idosos soronegativos? METODOLOGIA: As bases de dados Medical Literature Analysis and Retrieval System Online (MEDLINE), EMBASE, Literatura Latino-Americana e do Caribe em Ciências da Saúde (LILACS), Web of Science e Scopus serão pesquisadas. A estratégia de busca considerará estudos com amostra de 50 anos ou mais e população mista (pelo menos 50% com 50 anos ou mais). Incluirá estudos que avaliam pacientes soropositivos, e o controle considerará pesquisas que abordem pessoas não expostas. DESENHO DO ESTUDO: Serão incluídos estudos de coorte com seguimento de pelo menos 24 meses. Três revisores, de forma independente, farão a triagem dos artigos quanto aos critérios de elegibilidade, extrairão dados, avaliarão o risco de viés dos trabalhos e avaliarão a qualidade geral das evidências. Uma síntese narrativa será preparada de acordo com a diretriz SWiM. RESULTADOS ESPERADOS: Esperamos encontrar maior incidência de comprometimento cognitivo em idosos que vivem com o vírus da imunodeficiência humana. RELEVÂNCIA: As síndromes geriátricas associadas ao HIV tornam-se um importante escopo de estudo, uma vez que, o aumento da expectativa de vida acompanhado de uma vida sexual ativa sustenta o ciclo de contaminação desse problema de saúde pública. Este protocolo é relatado de acordo com os Itens Preferenciais de Relatórios para Protocolos de Revisão Sistemática e Metanálise e está registrado no International Prospective Register of Systematic Reviews ­ PROSPERO (CRD42022321914). Este estudo foi parcialmente financiado pela Coordenação de Aperfeiçoamento de Pessoal de Nível Superior ­ Brasil ­ Código de financiamento: 001

La planificación cognitiva en el contexto de la evaluación neuropsicológica e investigación en neurociencia cognitiva: una revisión sistemática / Cognitive planning in the context of neuropsychological assessment and research in cognitive neuroscience: a systematic review

La planificación es definida como la habilidad de desarrollar un plan secuenciado de pasos conductuales para alcanzar una meta y forma parte de un conjunto de funciones cognitivas de alto orden denominadas funciones ejecutivas. Esta función se ve afectada en diversas situaciones de la vida cotidiana y en una variedad de trastornos neuropsiquiátricos (por ej., depresión, ansiedad, déficit atencional, esquizofrenia, etc.). Tanto el diseño de pruebas cognitivas para evaluar planificación en el contexto clínico, como también el diseño de paradigmas experimentales de evaluación de la planificación en el contexto de investigación, continúa siendo un desafío para la neuropsicología clínica y para las neurociencias. En este artículo de revisión sistemática que sigue las direcciones PRISMA, revisamos la teoría e investigación en relación con la evaluación clínica y la investigación de las bases neurobiológicas de la planificación y los aportes a la comprensión de los mecanismos de su implementación. Se reportan medidas metodológicas comunes y se resumen las aproximaciones teóricas que contribuyen en su comprensión. Nuestros hallazgos muestran la implicancia de la corteza prefrontal en el rendimiento en planificación, en particular el área dorsolateral, corteza cingulada anterior y frontopolar. Mayores estudios clínicos, instrumentales y experimentales son necesarios para comprender mejor la planificación en el contexto de una teoría integrativa de las funciones ejecutivas y del rol de la corteza prefrontal.

Planning is defined as the ability to develop a sequenced plan of behavioral steps to achieve a goal and is part of a set of high-order cognitive functions called executive functions. This function is affected in various daily life situations and in a variety of neuropsychiatric disorders (e.g., depression, anxiety, attention deficit disorder, schizophrenia, etc.). Both the design of cognitive tests to assess planning in the clinical context, as well as the design of experimental paradigms for evaluating planning in research context, continues to be a challenge for clinical neuropsychology and neurosciences. In this PRISMA systematic review article, we review theory and research regarding clinical assessment and research into the neurobiological bases of planning and contributions to understanding the mechanisms of its implementation. Common methodological measures are reported and the theoretical approaches that contribute to their understanding are summarized. Our findings show the involvement of the prefrontal cortex in planning performance, particularly the dorsolateral area, the anterior cingulate cortex, and the frontopolar cortex. Further clinical, instrumental, and experimental studies are needed to better understand planning in the context of an integrative theory of executive functions and the role of the prefrontal cortex.

Self-perceived cognitive function and neuropsychological performance in women with fibromyalgia

BACKGROUND: Cognitive dysfunction is a common complain in patients with fibromyalgia (FM). Aim: To assess the perceived cognitive function and cognitive performance in women with FM. MATERIAL AND METHODS: Cross-sectional study including 100 women with FM (FMG) and 100 healthy controls (CG). Self-perceived cognitive functioning was evaluated using the Functional Assessment of Cancer Therapy Cognition scale (FACT-Cogv3). The neuropsychological performance was assessed with the Trail Making Test (TMT-A, TMT-B), Digit Span test (DS), Barcelona test (DS-F/B) and the Frontal Assessment Battery (FAB-E), Spanish version test. Results: The mean scores of all cognitive self-perception factors and all neuropsychological tests were lower in the FMG (p < 0.001). Over 90% of the FMG took longer than the population mean (P50) to complete the TMT-A and TMT-B tests, while in the CG, 1/3 took longer than the P50 in both tests. The minimum expected scores for the DS-F and DS-B tests were not achieved by 40 and 9% of FMG participants, respectively. According to FAB-E, 54% and 24% of FMG were categorized as fronto-subcortical deficit and fronto-subcortical dementia, respectively. CONCLUSIONS: Women with FM have a higher perception of cognitive dysfunction and lower cognitive performance in objective tests than healthy women. More research is needed to explore the clinical, psychosocial, and sociodemographic characteristics that predispose to cognitive deficits in this group of patients.

ANTECEDENTESA: La disfunción cognitiva es una queja común en pacientes con fibromialgia (FM). Objetivo: Investigar la función cognitiva percibida y el desempeño cognitivo en mujeres chilenas con FM. MATERIAL Y MÉTODOS: Estudio transversal incluyendo a 100 mujeres con FM (GFM) y 100 mujeres como controles sanos (GC). El funcionamiento cognitivo autopercibido se evaluó mediante la prueba Functional Assessment of Cancer Therapy Cognition scale (FACT-Cogv3). El rendimiento neuropsicológico se evaluó mediante las pruebas Trail Making Test (TMT-A, TMT-B) y Digit Span test (DS), Barcelona test (DS-F/B) y la prueba Frontal Assessment Battery, versión española (FAB-E). RESULTADOS: Las puntuaciones medias de todos los factores de autopercepción cognitiva y todas las pruebas neuropsicológicas fueron significativamente menores en el GFM. Para TMT-A y TMT-B, más del 90% del GFM tardó más que la media poblacional (P50) para completar las pruebas, mientras que en el GC aproximadamente 1/3 requirió más tiempo que el P50 en ambas pruebas. Un 40 y 9% del GFM no obtuvo la puntuación mínima esperada para las pruebas DS-F y DS-B, respectivamente. Según FAB-E, el 54% y 24% del GFM se clasificó como déficit fronto-subcortical y demencia fronto-subcortical, respectivamente. Conclusiones: Las mujeres con FM tienen una mayor percepción de disfunción cognitiva y menor rendimiento cognitivo en pruebas objetivas que mujeres sanas. Se necesita más investigación para explorar las características clínicas, psicosociales y sociodemográficas que predisponen a los déficits cognitivos en este grupo de pacientes.

Habilitación de funciones frontales básicas en cardiópatas congénitos a través de LEGO® Education / Basic frontal functions qualification in congenital heart disease with LEGO® Education

Las cardiopatías congénitas se consideran una de las anomalías que alteran la irrigación y el intercambio de oxigenación adecuado a las principales venas y arterias. Esto puede generar consecuencias en el desarrollo neurológico que se puede traducir en retraso psicomotor, déficits de aprendizaje, dificultades académicas y problemas de integración social. Para mejorar los trastornos cognitivos, se propone la habilitación cognitiva basada en los principios de mecánica y robótica de LEGO® Education. El objetivo de este estudio fue medir el efecto de un programa de intervención, basado en el uso de ensamblado y programación robótica con LEGO® Education, sobre las funciones frontales básicas como primera aproximación a un modelo propuesto en pacientes cardiópatas congénitos que han sido sometidos a cirugía cardiovascular. Se trató de un estudio de serie de casos, en el que finalizaron el tratamiento una niña y dos niños con cardiopatías congénitas con RACHS 2 y 3. Se aplicaron sub-escalas BANFE-2 y el cuestionario neuropsicológico de daño frontal antes y después del tratamiento; así como una escala para medir el nivel de ejecución por intervención, durante las ocho sesiones. Los resultados muestran en la escala BANFE2, cambios en las medias de las funciones frontales básicas, de daño leve-moderado y normal a normal alto, principalmente en memoria de trabajo y fluidez verbal. En esta primera aproximación, el método LEGO® Education mostró ser una buena herramienta para la habilitación neuropsicológica de estos pacientes.

Congenital heart diseases are considered to be an anomaly which alter the irrigation and the adequate exchange of oxygenation to the main veins and arteries. They can have neurodevelopmental consequences that could translate into psychomotor retardation, learning deficits, academic difficulties, and social integration problems. Cognitive empowerment based on the mechanics and robotics principles of LEGO® Education is proposed to improve cognitive disorders. In this study, the objective was to measure the effect of an intervention program, based on the use of assembly and robotic programming with LEGO® Education, upon basic frontal functions as a first approach to a proposed model in congenital heart disease patients who have undergone cardiovascular surgery. This was a case-series study, in which a girl and two boys with congenital heart disease with RACHS 2 and 3, completed the treatment. BANFE-2 subscales and the neuropsychological questionnaire of frontal damage were applied before and after the treatment; as well as a scale to measure the level of performance per intervention, through all the eight sessions. The BANFE-2 scale showed changes in the means of frontal functions, from mild-moderate damage and normal to high normal, mainly in working memory and verbal fluency. In this first approach, LEGO® Education method proved to be a useful tool for the neuropsychological empowerment of these patients.

Estudio exploratorio para la validación de la Brief International Cognitive Assessment for Multiple Sclerosis (BICAMS) en la población con esclerosis múltiple remitente recurrente del Hospital San Juan de Dios en Santiago de Chile / Exploratory study for the validation of the Brief International Cognitive Assessment for Multiple Sclerosis (BICAMS) in the population with recurrent remitting multiple sclerosis of the San Juan de Dios Hospital in Santiago, Chile

La evaluación cognitiva en personas adultas con esclerosis múltiple (EM) es un área fundamental a tener en cuenta en el proceso de intervención, debido a la alta prevalencia de deterioro cognitivo. En la actualidad, se ha recomendado la evaluación cognitiva por medio de la BICAMS (del inglés Brief International Cognitive Assessment for MS), que es una batería específica para evaluar a personas con EM, pero que no cuenta con validación en nuestro país. El presente estudio tiene como objetivo identificar el impacto de algunos factores clínicos (meses de evolución de la enfermedad y nivel de discapacidad) y personales (sexo, años de escolaridad y edad) que influyen en las medidas cognitivas de la BICAMS, a fin de contar con información relevante y precisa en un futuro proceso de validación. La muestra estuvo constituida por 38 personas con Esclerosis Múltiple Remitente Recurrente (EMRR). Los resultados mostraron que de los cinco factores clínicos observados, solo edad y sexo influyeron de manera significativa sobre los puntajes de las tres pruebas de la BICAMS. Por lo tanto, la validación de esta batería para la población chilena debiera incluir y/o controlar ambas variables de edad y sexo.

The evaluation of cognitive aspects among individuals with multiple sclerosis (MS) is key when considering intervention, because of high prevalence of cognitive impairments. At present, cognitive evaluation has been recommended by means of BICAMS (Brief International Cognitive Assessment for MS), which is a battery specifically constructed to assess individuals with MS. However, the battery has not been validated in Chile.The present study aims atdetermining the impact of clinical factors (months since condition's diagnosis and severeness level) and individual factors (sex, age, and years of schooling), which is expected to be accurate and valuable input for future validation processes. Sample consisted of 38 people with remittent-recurrent multiple sclerosis (RRMS). Results showed that only age and gender do significantly impact cognitive performance on all of three BICAMs subtests. Therefore, when validating this battery for Chilean individuals, both age and gender should be included and or controlled.

Cerebellar cognitive affective syndrome due to cerebellar atrophy: case report / Síndrome cerebelar cognitivo-afetiva secundária à atrofia cerebelar: relato de caso

Cerebellar atrophy is a rare and challenging disease with few descriptions in the medical literature. Motor impairment is mild, but behavioral and linguistic alterations stand out, in what is known as the cerebellar cognitive affective syndrome secondary to cerebellar atrophy. We report the case of an older woman with early-onset (age 45) signs and symptoms of this syndrome, including impairment of executive functions and visuospatial cognition, personality changes, and language deficits, who was followed at a geriatric medical center for 14 years. Neuropsychological, imaging, and behavioral aspects during this period are discussed in light of scientific evidence. This case report contributes to the scientific literature by describing the progression of the signs and symptoms of cerebellar atrophy over the years, which can help guide medical management and support advice for patients and their families.

A atrofia cerebelar é uma doença rara, desafiadora e com poucas descrições na literatura médica. O prejuízo motor é discreto, mas as alterações comportamentais e de linguagem se destacam, caracterizando a síndrome cognitivo-afetiva cerebelar secundária à atrofia cerebelar. Apresentamos o relato de caso de uma paciente idosa, que apresentou sinais e sintomas dessa síndrome precocemente (aos 45 anos de idade) ­ tais como déficits na função executiva, prejuízo visuoespacial, alterações de personalidade e déficits de linguagem ­ e foi acompanhada em um centro médico geriátrico por um período de 14 anos. Aspectos neuropsicológicos, de imagem e comportamentais durante esse período são comentados à luz das evidências científicas. O caso relatado contribui com a literatura científica ao descrever a evolução dos sinais e sintomas da atrofia cerebelar ao longo dos anos, balizando as condutas médicas e amparando as orientações ao paciente e seus familiares.

Homebound Elderly People Psychotherapeutic Intervention (HEPPI): study protocol for a randomized controlled trial / Intervenção psicoterapêutica com adultos idosos confinados no domicílio: protocolo para um ensaio clínico randomizado controlado

Objective: To present the study protocol for the Homebound Elderly People Psychotherapeutic Intervention (HEPPI), a home-delivered cognitive-emotional intervention aimed at homebound older adults with mild cognitive impairment and depression and/or anxiety symptoms. Methods: A two-arm, open-label, parallel-group randomized controlled trial will be conducted to compare the effects of HEPPI with treatment as usual. Homebound older adults will be recruited from the community through contact with their health care networks in mainland Portugal. All participants will complete baseline, post-intervention, and 3-month follow-up assessments. Primary outcomes will be changes in episodic memory and depression and anxiety symptoms. Secondary outcomes will include changes in general cognition, attentional control, subjective memory complaints, quality of life, functional status, and loneliness. Relevance: The availability of evidence-based home-delivered non-pharmacological interventions meeting the cognitive and emotional needs of the homebound older population could improve their access to mental health care resources and increase their mental health and quality of life.

Objetivo: Apresentar o protocolo do estudo da Homebound Elderly People Psychotherapeutic Intervention (HEPPI), uma intervenção cognitivo-emocional, realizada no domicílio, dirigida a adultos idosos confinados no domicílio com declínio cognitivo leve e sintomatologia depressiva e/ou ansiógena. Métodos: Será realizado um ensaio clínico randomizado, controlado e aberto, com o objetivo de comparar os efeitos da intervenção HEPPI com um grupo de tratamento usual. Os idosos confinados no domicílio serão recrutados na comunidade, em Portugal continental, por meio de contato com sua rede de prestação de cuidados de saúde. Todos os participantes serão avaliados em três momentos: pré-intervenção, pós-intervenção e três meses depois da intervenção. As alterações na memória episódica e na sintomatologia depressiva e ansiógena serão os desfechos primários, já os secundários serão constituídos pelas alterações no funcionamento cognitivo geral, controle atencional, queixas subjetivas de memória, qualidade de vida, capacidade funcional e solidão. Relevância: A disponibilidade de intervenções não farmacológicas em domicílio com evidência empírica, que atendam às necessidades cognitivas e emocionais dos adultos idosos confinados no domicílio, poderá facilitar o seu acesso a recursos de saúde mental, bem como melhorar sua saúde mental e qualidade de vida.

Long-Term Neurophysiological Outcomes in Patients Undergoing Coronary Artery Bypass Grafting

Abstract Introduction: This study aims to evaluate late postoperative neurophysiological outcomes in patients after coronary artery bypass grafting (CABG). Methods: Forty-five male patients with stable coronary artery disease aged 45-69 years underwent extended neuropsychological assessment using the software Status PF and electroencephalographical examination 3-5 days before CABG and 5-7 years after CABG. Postoperative decline in cognitive functions was determined by a 20% decrease in the cognitive indicator compared to that at baseline on 20% of the tests included in the Status PF battery. Statistical analysis was performed using the software STATISTICA 10.0. Multiple regression was used to identify demographic, clinical, and electroencephalographical variables associated with adverse cognitive outcomes. Results: Cognitive decline was observed in 54% of the patients in the long-term postoperative period. Five to seven years after CABG, all patients have shown an increase in the theta rhythm power compared to the preoperative values, which is most pronounced in the frontal and temporal areas of the right hemisphere (P=0.04), along with a decrease in the alpha rhythm in the posterior areas of the cortex (P=0.005). Multiple regression has reported that the main predictors of cognitive impairment are slower mean alpha frequency, decreased theta-2 rhythm with eyes closed in the right temporal area, and increased theta-2 rhythm with eyes open in the left temporal area (F(5.39)=8.81; P<0.00007; adjusted R-squared=0.57). Conclusion: Our findings indicate that 54% of the patients suffer from postoperative cognitive decline associated with increased theta and decreased alpha rhythms 5-7 years after CABG.

Síndrome Pos-COVID y Síndrome de Fatiga Crónica: ¿Dos caras de la misma moneda? / POST-COVID SYNDROME AND CHRONIC FATIGUE SYNDROME: TWO SIDES OF THE SAME COIN

El síndrome de fatiga crónica es una enfermedad caracterizada, principalmente, por la manifestación de la fatiga, el dolor muscular difuso, y alteraciones en el sueño, en un periodo de no menos de 6 meses y que no son explicables por alguna causa. Es llamativo que, luego de un periodo de tiempo de padecer la COVID-19, los pacientes presenten síntomas similares a los hallados en el síndrome de fatiga crónica. A esta afección se la denomino síndrome pos-COVID. Los virus son los principales sospechosos en la aparición de ambos síndromes, estos podrían ocasionar la generación de daño mitocondrial, una neuroinflamación, alteración en el sistema glinfático o la disfunción en el eje hipotálamo-pituitario-adrenal entre otros. Dichos mecanismos serían los implicados en la aparición de los síntomas que padecen los pacientes con estos síndromes. El objetivo de esta revisión literaria es analizar y describir los posibles mecanismos que explicarían la manifestación de los síntomas del síndrome de fatiga crónica en los pacientes que hayan sufrido la COVID-19. Hasta el momento no existen tratamientos totalmente efectivos para erradicar los síntomas en ambos síndromes. Dado el abanico de síntomas que padecen estos pacientes, el enfoque terapéutico debe ser interdisciplinario para tratar de mejorar su calidad de vida.

5p13. 2 Chromosomal duplication syndrome: case report and literature review / Síndrome de duplicação cromossômica 5p13. 2: relato de caso e revisão da literatura

Chromosome 5p13 duplication syndrome represents a contiguous gene syndrome involving duplication of several genes on chromosome 5p13. Some clinical phenotypes are related to it, such as: obsessive-compulsive behavior, small palpebral fissures, intellectual disability, global development delay and ocular hypertelorism. The exact mechanism behind these changes has not well known and further studies are needed for this purpose. Since it is a rare and uncommon clinical situation, the case report contributes to the knowledge of the disease and early diagnosis. This condition mainly affects the cognitive neuromuscular system. We describe an 8-year-old Brazilian patient with the duplication of chromosome 5p13.2, karyotype, whose neurodevelopmental evaluation presented cognitive impairment, severe language delay and atypical physical examination, with ocular hypertelorism, right auricular tags, congenital heart defect and long fingers. The patient was diagnosed by comparative genomic hybridization (CGH)-array revealing a 204Kb of DNA duplication. The exact mechanism behind these structural disorders is still unclear and further studies are needed for this purpose. Nevertheless, the diagnostic suspicion of this genetic alteration that, in general, presents late diagnosis, should be considered to enable better clinical support to the patients and family genetic counseling.

A síndrome da duplicação do cromossomo 5p13 representa uma síndrome genética contígua envolvendo a duplicação de vários genes contidos nesta região. Alguns fenótipos clínicos estão relacionados com ela, tais como: comportamento obsessivo compulsivo, fissuras palpebrais pequenas, déficit intelectual, atraso no desenvolvimento global e hipertelorismo ocular. Por ser uma situação clínica rara, o relato do caso contribui para a disseminação do conhecimento acerca da condição, assim como para seu diagnóstico precoce. Descrevemos uma paciente brasileira de oito anos com a duplicação do cromossomo 5p13.2, que na avaliação do neurodesenvolvimento apresentou comprometimento cognitivo, grave atraso da linguagem e dismorfismos como hipertelorismo ocular, apêndice auricular direito, sopro cardíaco, relacionado a defeito do septo ventricular, e dedos alongados. A paciente foi diagnosticada por meio da pesquisa molecular (CGH)-array com ganho de 204Kb de DNA. O mecanismo exato por trás dessas alterações estruturais ainda não está claro e são necessários mais estudos para este fim. Não obstante, a suspeita diagnóstica dessa alteração genética que, em geral, apresenta diagnóstico tardio, deve ser aventada para viabilizar melhor suporte clínico aos pacientes e aconselhamento genético familiar.

Activity limitations in leprosy and their association to cognition and neuropsychiatric symptoms / Limitaciones de tarea en la enfermedad de Hansen y su relación con cognición y síntomas neuropsiquiátricos / Limitações de tarefa na hanseníase e sua associação com cognição e sintomas neuropsiquiátricos

ABSTRACT Objectives: to analyze activity limitations in patients with leprosy and their association to cognition and neuropsychiatric symptoms. Methods: this cross-sectional design study included sixty patients with multibacillary leprosy assisted at a reference center. Participants were divided according to their physical disability and submitted to instruments assessing daily activities (basic and instrumental), cognitive functions, and neuropsychiatric symptoms. The order of the instruments was random to avoid any interference of test sequence on the results. Results: fifty-five percent of the participants presented physical disabilities. All patients were independent in performing basic activities but sixty-six percent presented difficulties in performing instrumental activities. Cognitive decline and neuropsychiatric symptoms were seen in advanced stages of the disease, but they were more associated to patient age than to leprosy. Conclusions: leprosy patients presented physical disabilities and difficulties in performing instrumental daily activities. Cognitive decline and neuropsychiatric symptoms were more associated to aging than to leprosy itself.

RESUMEN Objetivo: analizar limitaciones de tarea en pacientes con Lepra y su relación con cognición y síntomas neuropsiquiátricos. Métodos: este estudio transversal incluyó 60 pacientes con Lepra multibacilar atendidos en centro de referencia. Participantes fueron divididos segundo la disfunción física y evaluados cuanto a las actividades diarias (básicas y instrumentales), funciones cognitivas y síntomas neuropsiquiátricos. Orden de aplicación de los instrumentos aleatoria para evitar interferencia de la secuencia de tests sobre los resultados. Resultados: de los participantes, 55% presentaron disfunción física. Todos pacientes eran independientes en las actividades básicas, pero 66% mostraron dificultades en las actividades instrumentales. Declive cognitivo y síntomas neuropsiquiátricos fueron observados en etapas avanzadas de la enfermedad, pero estos estaban más relacionados a la edad del paciente que a la Lepra. Conclusiones: pacientes con Lepra evidenciaron disfunción física y dificultades en las actividades instrumentales. Declive cognitivo y síntomas neuropsiquiátricos están más relacionados al envejecimiento que a la Lepra.

RESUMO Objetivo: analisar as limitações de tarefa em pacientes com hanseníase e sua associação com cognição e sintomas neuropsiquiátricos. Métodos: este estudo transversal incluiu 60 pacientes com hanseníase multibacilar atendidos em um centro de referência. Os participantes foram divididos segundo a disfunção física e avaliados quanto às atividades diárias (básicas e instrumentais), às funções cognitivas e aos sintomas neuropsiquiátricos. A ordem de aplicação dos instrumentos foi aleatória para evitar interferência da sequência dos testes sobre os resultados. Resultados: dos participantes, 55% apresentaram disfunção física. Todos os pacientes eram independentes nas atividades básicas, mas 66% mostraram dificuldades nas atividades instrumentais. Declínio cognitivo e sintomas neuropsiquiátricos foram observados em estágios avançados da doença, porém estes estavam mais associados à idade do paciente do que à hanseníase. Conclusões: pacientes com hanseníase evidenciaram disfunção física e dificuldades nas atividades diárias instrumentais. Declínio cognitivo e sintomas neuropsiquiátricos estão mais associados ao envelhecimento do que à hanseníase.

A efetividade da terapia fonoaudiológica no nível discursivo: estudo de caso de distúrbio linguístico-cognitivo na demência / The effectiveness of speech-language therapy at the discursive level: a case study of cognitive-linguistic deficit in dementia

RESUMO Pessoas com demência apresentam alterações cognitivas, de linguagem e de comportamento. As alterações da linguagem podem ser identificadas no discurso desses pacientes já nas fases iniciais. Contudo, ainda há poucas pesquisas sobre a efetividade da terapia fonoaudiológica nesses casos. Os objetivos deste estudo foram descrever as manifestações linguísticas presentes no discurso de um paciente com distúrbio linguístico-cognitivo e analisar a efetividade da terapia fonoaudiólogica. Foi realizado um estudo de caso único longitudinal, com participante com demência mista em fase leve à moderada, submetida à avaliação pré e pós-terapia fonoaudiológica. Foram utilizados os subtestes de Compreensão oral e de Discurso narrativo oral da Bateria MTL-Brasil e o teste The Dog Story. Na avaliação, a paciente apresentou alteração grave da compreensão oral e alteração nas dimensões micro e macrolinguística do discurso, obtendo pontuação 2/10 no índice de avaliação do discurso oral. Após a terapia, a paciente obteve resultados dentro do esperado nos subtestes de Compreensão oral (palavras, frases e texto) e de Discurso narrativo oral (número de palavras e unidades de informação) da Bateria MTL-Brasil. No teste The Dog Story, a participante obteve melhor desempenho na produção do discurso em relação aos itens alteração lexical e complexidade sintática (dimensão microlinguística) e macroproposição (dimensão macrolinguística), alcançando escore de 5/10 no índice. É possível afirmar que a terapia fonoaudiológica foi efetiva a curto prazo para esta paciente com distúrbio linguístico-cognitivo e alterações no nível discursivo da linguagem.

ABSTRACT People with dementia present cognitive, language and behavioral impairments. The language deficits can be identified in the speech of these patients in the early stages. However, there are still few studies about the effectiveness of speech-language therapy in these cases. This study aimed to describe the language manifestations observed in the speech of a patient with a linguistic-cognitive disorder and to analyze the effectiveness of speech-language therapy. A longitudinal single-case study with a patient with mild to moderate mixed dementia was carried out. The patient underwent pre- and post-speech-language therapy evaluation with the Oral comprehension and the Narrative discourse subtests of the MTL-Brazil Battery and The Dog Story test. We observed severe impairments of the oral comprehension and deficits involving the micro and macrolinguistic dimensions of the discourse, with a score of 2/10 in the oral discourse evaluation index. After the speech-language therapy, the patient achieved adequate performance in the Oral Comprehension subtests (words, sentences and text) and the Oral Narrative discourse (number of words and information units) of the MTL-Brazil Battery. In The Dog Story test, the participant obtained better performance in the discourse production regarding the items lexical change and syntactic complexity (microlinguistic dimension) and macroproposition (macrolinguistic dimension), achieving a score of 5/10 on the index. It is possible to state that the speech-language therapy was effective in the short term for this patient with linguistic-cognitive disorder and impairments in the discursive level of the language.

Association between physical functioning with cognition among community-dwelling older adults: a cross-sectional study / Associação entre função física e cognição em idosos da comunidade: estudo transversal

OBJECTIVE: Declines in physical and cognitive functioning often co-exist through aging. Gait-related parameters have been related to cognitive function, although it is unclear whether other measures of physical functioning are similarly related to cognition. Here, we analyzed the relationship between physical functioning with cognition in older adults. METHODS: In total, baseline data of 116 dementia-free older adults recruited from two separated clinical trials (RCT) were included (M age = 69 years, SD = 6; 71% women). We quantified cognitive functioning using the Montreal Cognitive Assessment (MoCA) and executive functioning tasks (Digit Span Forward minus Backward and verbal fluency ­ FAS and animal naming). Physical function measures included gait speed, Short-physical Performance Battery (SPPB), five-times Sit-to-Stand Test, the Timed Up and Go (TUG) test, the Six-minute Walk Test (6MWT), and lower extremity muscle strength. We used multiple linear regression analyses to explore the association between cognitive measures and each measure of physical functioning, adjusting for age, sex, education, and RCT. Regression coeficients (b), standard error (SE) and 95% confidence intervals (CI) were used to summarize main results. RESULTS: We observed a positive association between muscle strength and the MoCA (b = 0.84, SE = 0.40, 95%CI 0.05­1.64) after controlling for covariates. Significant associations were also found between the five-times-sit-to-stand test (b = -0.63, SE = 0.26, 95%CI -1.15­-0.12), TUG (b = -1.13, SE = 0.57, 95%CI -2.26­-0.01), 6MWT (b = 0.04, SE = 0.02, 95%CI 0.01­0.07), and lower extremity muscle strength (b = 1.92, SE = 0.93, 95%CI 0.09­3.77) with the FAS verbal fluency test, and between the TUG (b = -0.62, SE = 0.24, 95%CI -1.11­-0.14) with animal naming. CONCLUSION: In community-dwelling older adults, higher levels of muscle strength, dynamic balance and cardiorespiratory fitness were positively related with global cognition and executive control measures.

Trastornos de la comunicación en personas con esclerosis múltiple e instrumentos de evaluación / Communication disorders in people with multiple sclerosis and evaluations instruments

Communication is an essential part of our social participation and the need to know how to evaluate and deal with its alterations is essential when working with people with neurological pathologies such as Multiple Sclerosis (MS). Purpose: to carry out a bibliographic review and group information related to communication problems, describing useful instruments for timely evaluation in the different areas involved. Material and method: bibliographic review related to the subject. Results: People with MS can face differents communication problems (aphasia, dysarthria or cognitive communicative disorder), it is important to have the characterization of these disorders and with tools that specifically carry out a pertinent evaluation with common language among experts. Conclusions: considering the importance of communication, its disorders as a consequence of MS and the forms of evaluation are a priority when intervening with this population. (AU)