Spanish version of the frontotemporal dementia knowledge scale: adaptation and validation / Versión en español de la escala de conocimiento sobre demencia frontotemporal: adaptación y validación

ABSTRACT Background: Frontotemporal dementia (FTD) is a neurodegenerative disease and is one of the most common causes of dementia in people under 65. There is often a significant diagnostic delay, as FTD can be confused with other psychiatric conditions. A lack of knowledge regarding FTD by health professionals is one possible cause for this diagnostic confusion. Objectives: The aim of this study was to adapt and validate the Frontotemporal Dementia Knowledge Scale (FTDKS) in Spanish. Methods: A translation was done, following cross-cultural adaptation guidelines, which consisted of forward translation, blind back translation, and an analysis by a committee of experts. For the present study, 134 professionals from different health areas responded the Spanish version of the FTDKS. The statistical analysis was performed using R version 4.0.0 "Arbor day" and the Psych, sjPlot packages. Results: The Spanish version of the FTDKS had good reliability and internal consistency (Cronbach alpha 0.74.). The sample's mean score was 19.78 (range = 4-32, SD 6.3) out of a maximum of 36 points. Conclusions: The results obtained show that the Spanish version has good psychometric properties. The FTDKS is applicable in our environment and can be a useful tool to evaluate the knowledge of health professionals regarding frontotemporal dementia.

RESUMEN Antecedentes: La demencia frontotemporal (DFT) es una enfermedad neurodegenerativa y es una de las causas más comunes de demencia en personas menores de 65 años. A menudo existe un retraso significativo en el diagnóstico, ya que la FTD puede confundirse con otras afecciones psiquiátricas. La falta de conocimientos sobre la DFT por parte de los profesionales de salud es una posible causa de esta confusión diagnóstica. Objetivos: El presente estudio describe nuestros esfuerzos para adaptar y validar la Escala de Conocimiento de la Demencia Frontotemporal (FTDKS) en español. Métodos: Se realizó una traducción, siguiendo las pautas de adaptación transcultural, que consistió en una traducción directa, una traducción inversa ciega y un análisis por parte de un comité de expertos. Para el presente estudio, 134 profesionales de diferentes áreas de la salud respondieron la versión en español del FTDKS. El análisis estadístico se realizó utilizando la versión 4.0.0 de R "Arbor day" y los paquetes Psych, sjPlot. Resultados: La versión en español del FTDKS tiene una buena fiabilidad y consistencia interna (alfa de Cronbach 0,74.). La puntuación media de la muestra fue de 19,78 (rango = 4-32, SD 6,3) sobre un máximo de 36 puntos. Conclusiones: Los resultados obtenidos muestran que la versión española tiene buenas propiedades psicométricas. El FTDKS es aplicable en nuestro medio y puede ser una herramienta útil para evaluar los conocimientos de los profesionales sanitarios sobre la demencia frontotemporal.

Demencia frontotemporal desde una mirada neuropsicológica / Frontotemporal dementia from a neuropsychological point of view

Introducción: La riqueza de las manifestaciones neuropsicológicas de la demencia frontotemporal, ha permitido la identificación de diferentes variantes de la enfermedad, sin embargo, existen pacientes en los que se entrelazan las características clínicas de más de una variante, lo que ha llevado a cuestionar lo relativo de las clasificaciones vigentes. Objetivo: Caracterizar el funcionamiento cognitivo de un paciente donde concomitan alteraciones conductuales y del lenguaje, típicas de la demencia frontotemporal. Caso clínico: Mujer diestra, de 50 años de edad, con cambios conductuales marcados, a los cuales, de forma progresiva, se sumaron alteraciones del lenguaje, en un periodo de evolución de aproximadamente un año y seis meses. Por imágenes de tomografía axial computarizada, se confirma atrofia cortical a predominio frontal. Se emplearon para la evaluación la batería neuropsicológica breve NEUROPSI, la escala Hasegawa y la batería de evaluación frontal de Litvan; se constata predominio de alteraciones en el lenguaje impresivo y expresivo, las funciones ejecutivas y en la memoria verbal. Conclusiones: Las alteraciones detectadas, confirman la coexistencia de manifestaciones de la variante conductual (con tendencia a la desinhibición) y la variante semántica de la demencia frontotemporal(AU)

Introduction: The richness of the neuropsychological manifestations of frontotemporal dementia has allowed the identification of different variants of the disease. However, there are patients in whom the clinical characteristics of more than one variant are intertwined, which has led to question the current classifications. Objective: To characterize the cognitive functioning of a patient with concomitant behavioral and language disorders, typical of frontotemporal dementia. Case presentation: Right-handed female, 50 years old, affected by marked behavioral changes, to which language alterations were progressively added in a period of evolution of approximately one year and six months. Images of Computerized Axial Tomography that confirm cortical atrophy mainly frontal. The Neuropsychological Battery abbreviated NEUROPSI, the Hasegawa Scale and the Litvan Frontal Evaluation Battery were used for the evaluation, with a predominance of alterations in printed and expressive language, executive functions and verbal memory. Conclusions: The alterations detected confirm the coexistence of manifestations of the behavioral variant (with a tendency to disinhibition) and the semantic variant of frontotemporal dementia(AU)

Prefrontal symptomatology in People with Amyotrophic lateral Sclerosis: Clinical Utility and Psychometric Properties of Prefrontal Symptoms Inventory (PSI)

The Amyotrophic Lateral Sclerosis (ALS) is a multisystemic disorder. It is considered a neuromuscular disease but also involves cognitive (executive functions, social cognition, attention, memory and language), emotional or behavior changes in over 50% of the reported cases and to of frontotemporal diagnosis lobar degeneration of behavioral variant in up to 15% of the cases. For this reason, the presence of cognitive and motivational problems was analysed in a Spanish sample of ALS patients through the prefrontal symptoms inventory (PSI) to determine applicability in this disease STI. A sample of 31 patients with a potential ALS or definitive diagnostic criteria according to El Escorial was used. Obtained results ISP were compared with a sample of 31 healthy people in the same proportions of gender, age and education level. Obtained results showed a not significant difference between the two populations in the motivational factor problems, related to the depression symptomatology frequently associated with ALS. A significant positive correlation between age at diagnosis and the scale of the motivational problems was observed, with a not significant trend related to problems in the executive control and in social the behavior control and with the age at diagnosis, in the same sense with age at diagnosis. Therefore, it can be concluded that, despite the results obtained, emotional and behavioral deficits in ALS patients and symptoms related to frontotemporal dementia (among others, anosognosia or lack of consciousness symptoms) could have interfered in patient perception about their symptomatology

Demencia frontotemporal y esclerosis lateral amiotrófica: presentación de un caso clínico / Frontotemporal dementia and amyotrophic lateral sclerosis: a case report

For a long time amyotrophic lateral sclerosis was seen as an exclusively motor disease, however, a lot of investigations have proved the existence of cognitive symptoms similar to frontotemporal dementia that could precede, coexist or appear after the motor symptoms. We report the case of a 69 years old hispanic man who consults about progressive swallowing impairments. In the speech languagepathologist assessment, we detected cognitive impairments that made necessary to complete the workout with specific test. The results of the assessment, shown disturbance in swallowing with suggestive symptomatology of motor neuron disease, besides cognitive impairments in executive functions, visuospatial abilities, memory, language and behaviors and conductual abnormalities. A few months after speech language pathologist assessment, the diagnosis of amyotrophic lateral sclerosis was given. This case emphasize in the importance of a exhaustive anamnesis and clinical assessment, as well as early diagnosis focused on opportune interventions. Additionally, it’s important to note the need for professionals with update knowledge in neuropsychology, to support interventions.

Durante mucho tiempo se pensó que la esclerosis lateral amiotrófica era una enfermedad exclusivamente motora, sin embargo, diversos estudios han mostrado la existencia de síntomas cognitivos que pueden manifestarse antes, durante o después de los síntomas motores y que serían compatibles con una demencia frontotemporal. Se presenta un caso de un hombre de 69 años que consulta por dificultades de deglución de carácter progresivo. En la evaluación fonoaudiológica se pesquisan dificultades cognitivas, por lo cual se decide aplicar diversas pruebas con el objetivo de aclarar estas alteraciones. Los resultados de la evaluación revelan alteraciones a nivel de deglución, con sintomatologia sugerente de enfermedad de motoneurona, además de alteraciones cognitivas a nivel de funciones ejecutivas, habilidades visuoespaciales, memoria, lenguaje y alteraciones en conducta y comportamiento. En el transcurso de unos meses, posterior a la evaluación fonoaudiológica, se realiza el diagnóstico de esclerosis lateral amiotrófica. Se enfatiza en la importancia de la anamnesis y evaluación clínica, el diagnóstico precoz enfocado en la intervención oportuna y la relevancia de contar con profesionales competentes y capaces, con conocimientos sobre neuropsicología que puedan ser de apoyo para la intervención.

Violência e sofrimento social no itinerário de travestis de Santa Maria, Rio Grande do Sul, Brasil / Violence and social distress among transgender persons in Santa Maria, Rio Grande do Sul State, Brazil / La violencia y el sufrimiento social en el itinerario de las personas transgénero de Santa María, Río Grande do Sul, Brasil

No ano de 2012, realizamos pesquisa etnográfica com travestis de Santa Maria, Rio Grande do Sul, Brasil, por meio de observação participante, entrevistas e acompanhamento de suas vidas cotidianas. Durante esse período, percebemos que as violências física e simbólica e o sofrimento delas decorrentes eram invariantes, condição com a qual tinham que lidar em seus itinerários, em suas práticas e afazeres diários. Este artigo discute as violências vivenciadas nas trajetórias percorridas pelas travestis (família, escola, delegacias, serviços de saúde), procurando, sobretudo, compreender como tais violências estão relacionadas às experiências nos serviços de saúde e como os serviços de saúde por elas acessados reagiram às violências.

The authors conducted an ethnographic research with transgender persons in Santa Maria, Rio Grande do Sul State, Brazil, in 2012, using participant observation, semi-structured interviews, and following their everyday lives. These individuals invariably experienced physical and symbolic violence and the resulting distress, a condition they had to deal with in their careers and daily practices and tasks. The article discusses the violence experienced by transvestites (in the family, school, police precincts, and health services), specifically seeking to understand how such violence relates to their experiences with health services and how the latter respond.

Hemos llevado a cabo una investigación etnográfica con personas transgénero de Santa María, Río Grande do Sul, Brasil, durante el año 2012, a través de la observación participante, entrevistas semiestructuradas y seguimiento de su vida cotidiana. Durante este período, se observó que la violencia física y simbólica y el sufrimiento que resulta de ellos, eran invariables, una condición que tenían que hacer frente en sus carreras, en sus prácticas y actividades diarias. Este artículo describe el panorama de la violencia experimentada en la rutina de transexuales (familia, escuela, policía, servicios de salud), con el objetivo particular de entender cómo este tipo de violencia está relacionado con experiencias en el cuidado de la salud y cómo los servicios de salud reaccionaron a este tipo de situaciones de violencia.

Revisão dos principais genes e proteínas associadas à demência frontotemporal tau-positiva / Review of main genes and proteins associated with tau-positive frontotemporal dementia

O objetivo desta revisão foi apresentar os genes APOE e MAPT e as proteínas ApoE e tau como marcadores genéticos que vêm sendo estudados na demência frontotemporal com inclusões tau-positivas, os quais poderão, futuramente, auxiliar no diagnóstico diferencial. A demência frontotemporal é um transtorno neurocognitivo marcado por disfunção dos lobos frontais e temporais, geralmente associada à atrofia dessas estruturas e relativa preservação das regiões cerebrais posteriores. Clinicamente, manifesta-se por volta dos 57 anos de idade, com igual incidência entre homens e mulheres. A demência frontotemporal tem início insidioso e caráter progressivo, com discreto comprometimento da memória episódica, mas com importantes alterações comportamentais, de personalidade e na linguagem. Devido às semelhanças possíveis entre as manifestações clínicas das demências inclusive a doença de Alzheimer, há grande dificuldade no diagnóstico diferencial, sendo necessário um exame clínico e neuropsicológico detalhado do indivíduo acometido, além de exames bioquímicos e de neuroimagem. O gene MAPT codifica a proteína tau e sua função principal é estabilizar os microtúbulos. Em células nervosas sadias, a proteína tau é normalmente encontrada nos axônios, ao contrário dos achados descritos nos transtornos neurocognitivos, em que a proteína se encontra distribuída no corpo celular e nos dendritos. A apolipoproteína E ApoE é uma glicoproteína polimórfica, codificada pelo gene APOE, que tem importante papel na absorção, transporte e redistribuição de colesterol, necessário ao reparo e manutenção do tecido nervoso. Com o aumento da expectativa de vida e controle da natalidade, o envelhecimento populacional tornou-se fato, trazendo consigo maior prevalência de doenças crônico-degenerativas, de modo que é de extrema importância conhecer melhor essas doenças, no sentido de buscar novas formas de tratamento, visto que as demências não dispõem ainda de cura...

This review aimed to present the APOE and MAPT gene and ApoE and tau proteins as genetic markers that have been studied in frontotemporal dementia, which may in future help in the differential diagnosis. Frontotemporal dementia is a neurocognitive disorder characterized by frontal and temporal lobes dysfunction, often associated with atrophy of these structures and relative preservation of posterior brain regions. Clinically, it manifests around 57 years-old, with same incidence in men and women. Frontotemporal dementia has an insidious and progressive onset, with a mild impairment of episodic memory, but with significant behavioral, personality and language changes. Due to possible similarities between the clinical manifestations of dementia including Alzheimer's disease there is a great difficulty in the differential diagnosis, which needs detailed clinical and neuropsychological examination of individuals affected, further biochemical and neuroimaging exams. MAPT gene encodes tau protein, its main function is to stabilize microtubules. In healthy nerve cells, tau protein is usually found in the axons, in contrast to the findings described in neurocognitive disorders in which protein is distributed in the cell body and dendrites. The apolipoprotein E ApoE is a polymorphic glycoprotein, encoded by the APOE gene, which plays an important role in absorption, transport and redistribution of cholesterol, necessary for the repair and maintenance of nervous tissue. Because of increasing life expectancy and birth control, population aging has become fact, bringing a higher prevalence of chronic diseases, so it is extremely important to know more about these dis eases, in order to seek new ways of treating dementias seen that do not have a cure...

Manifestaciones neuropsiquiátricas y cognitivas en demencia frontotemporal y esclerosis lateral amiotrófica: dos polos de una entidad común / Overlapping features of frontotemporal dementia and amyotrophic lateral sclerosis

Recent genetic and neuropathologic advances support the concept that frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are overlapping multisystem disorders. While 10-15% of ALS patients fulfil criteria for FTD, features of motor neuron disease appear in approximately 15% of FTD patients, during the evolution of the disease. This overlap has been reinforced by the discovery of Transactive Response DNA Binding Protein 43 kDa (TDP43) inclusions as the main neuropathologic finding in the majority of ALS cases and almost a half of FTD cases. Also, an expansion in the intron of C9ORF72 (chromosome 9p21) has been identified in families affected by ALS, ALS-FTD and FTD. This review provides an update on the recent genetic and neuropathologic findings of ALS and FTD and a characterization of their clinical presentation forms, based on the current diagnostic criteria. Finally it underscores the importance of having a national registry of patients with ALS and FTD, to provide an earlier diagnosis and a multidisciplinary care.

Frontotemporal dementia: clinical, neuropsychological, and neuroimaging description / Demencia frontotemporal: descripción clínica, neuropsicológica e imaginológica

Objetivo: To describe the relation between the clinical, neuropsychological, and brain imaging findings in a group of patients with fronto temporal dementia. Methods: A sample of 21 patients was collected, and their charts, cognitive profiles, and brain imagines were reviewed; all patients were evaluated as outpatients at the Hospital Psiquiátrico Universitario del Valle, in Cali, Colombia. Results: The mean age was 59.8 years old, the time elapsed between the beginning of the symptoms and the diagnosis was 2.7 years, the more frequent variant was the behavioral one, the main alteration at the magnetic resonance imaging was the frontotemporal atrophy, and the more frequent alteration on the brain SPECT was the frontotemporal hypo perfusion. On the cognitive evaluation the main finding was the normal scoring in praxis, which was related to a temporo parietal hypo perfusion at the brain SPECT (p <0.02). Mimnimental either CLOX were useful as screening tests.

Objetivo: Describir la relación entre los hallazgos clínicos, neuropsicológicos e imagenológicos en un grupo de pacientes con el diagnóstico de DFT. Métodos: Se revisaron las historias clínicas, pruebas cognitivas e imágenes cerebrales estructurales y de perfusión de 21 pacientes del Hospital Psiquiátrico Universitario del Valle, Cali, Colombia. Resultados: El promedio de edad fue de 59.8 años, el tiempo de evolución de la enfermedad fue de 2.7 años, la variante más frecuente fue la comportamental, la alteración más frecuente en la RMN fue la atrofia frontotemporal y en el SPECT fue la hipoperfusión frontotemporal. El hallazgo más importante fue el rendimiento normal del 61.9% de los pacientes en pruebas de praxis, la cual se relacionó con alteración en la perfusión temporo parietal en el SPECT (p <0.02). El minimental ni el clox sirvieron como pruebas de tamizaje.

La demencia frontotemporal en la consulta psiquiátrica / Frontotemporal Dementia in the Psychiatric Consultation

La Demencia Lobar Fronto Temporal (DFTL) variante frontal suele ser subdiagnosticada por presentar síntomas psiquiátricos y preservación de la memoria hasta etapas muy avanzadas de la enfermedad. Se inicia durante la mediana edad con trastornos conductuales, afectivos y del habla. Frecuentemente es tratada erróneamente como trastorno depresivo, esquizofrenia o psicosis funcional durante las primeras fases. Es la 3ra causa de demencia degenerativa y la 2da causa en menores de 65 años. Es por ello que considero importante el tener en cuenta su diagnóstico y diagnósticos diferenciales con patologías psiquiátricas y también orgánicas como la del Cerebro Hundido (FBSS) que suele diagnosticarse como DFTL. Se abordan las definiciones, prevalencia, incidencia, factores de riesgo, genética, clasificaciones, criterios diagnósticos, diagnósticos diferenciales y abordajes terapéuticas

Frontotemporal Dementia (FTD) with frontal variant is usually underdiagnosed for presenting psychiatric symptoms and the preservation of memory until very advanced stages of the disease. Its onset is during midlife with behavioral, affective and speech disorders. it is frequently mistreated as depressive disorder, schizophrenia or functional psychosis during the first phases. It's the third cause of degenerative dementia and the second cause among people below 65 years-old. This is why I consider it important to take into consideration its diagnosis and differential diagnoses with sychiatric as well as organic pathologies such as the "Sagging Brain" which is usually diagnosed as FTLD. This article includes definitions, prevalence, incidence, risk factors, genetics, classifications, diagnostic criteria, differential diagnoses and therapeutic approch

Demencia frontotemporal: experiencia clínica / Frontotemporal dementia: review of 63 cases

Background: Front temporal dementias (FTD) are neurodegenerative disorders characterized by alterations in behavior, affection and language, with relative sparing of episodic memory. There are three major forms of FTD: the frontal or behavioral form, progressive non-fluent aphasia and semantic dementia (that may begin as a fluent progressive aphasia). Aim: To report a retrospective clinical experience of patients with frontotemporal dementia. Material and methods: Review of 3,700 records of neuropsychological assessments of patients with behavioral disturbances, studied between 1981 and 2008. Of these, 63 patients (59 percent females) complied with the criteria for frontotemporal dementia. Results: There were 47 cases with the frontal variant, four with non-fluent progressive aphasia and six with fluent progressive aphasias (2 evolved to semantic dementia). The mean age of onset was 60±11 years. There were no familiar cases of FTD. Conclusions: It is clinically difficult to diagnose FTD, since evaluation of attitude or language is required. In addition to structural images, functional images were helpful in some cases, but the definitive diagnosis is anatomical.