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Frontotemporal lobar degeneration (FTLD) belongs to a heterogeneous group of highly complex neurodegenerative diseases and represents the second cause of presenile dementia in individuals under 65. Frontotemporal-TDP is a subgroup of frontotemporal dementia characterized by the aggregation of abnormal protein deposits, predominantly transactive response DNA-binding protein 43 (TDP-43), in the frontal and temporal brain regions. These deposits lead to progressive degeneration of neurons resulting in cognitive and behavioral impairments. Limbic age-related encephalopathy (LATE) pertains to age-related cognitive decline primarily affecting the limbic system, which is crucial for memory, emotions, and learning. However, distinct, emerging research suggests a potential overlap in pathogenic processes, with some cases of limbic encephalopathy displaying TDP-43 pathology. Genetic factors play a pivotal role in both disorders. Mutations in various genes, such as progranulin (GRN) and chromosome 9 open reading frame 72 (C9orf72), have been identified as causative in frontotemporal-TDP. Similarly, specific genetic variants have been associated with an increased risk of developing LATE. Understanding these genetic links provides crucial insights into disease mechanisms and the potential for targeted therapies.

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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.

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Frontotemporal lobar degeneration describes a group of progressive brain disorders that primarily are associated with atrophy of the prefrontal and anterior temporal lobes. Frontotemporal lobar degeneration is considered to be equivalent to frontotemporal dementia. Frontotemporal dementia is characterized by progressive impairments in behavior, executive function, and language. There are two main clinical subtypes: behavioral-variant frontotemporal dementia and primary progressive aphasia. The early diagnosis of frontotemporal dementia is critical for developing management strategies and interventions for these patients. Without validated biomarkers, the clinical diagnosis depends on recognizing all the core or necessary neuropsychiatric features, but misdiagnosis often occurs due to overlap with a range of neurologic and psychiatric disorders. In the studies reviewed a very large number of microRNAs were found to be dysregulated but with limited overlap between individual studies. Measurement of specific miRNAs singly or in combination, or as miRNA pairs (as a ratio) in blood plasma, serum, or cerebrospinal fluid enabled frontotemporal dementia to be discriminated from healthy controls, Alzheimer's disease, and amyotrophic lateral sclerosis. Furthermore, upregulation of miR-223-3p and downregulation of miR-15a-5p, which occurred both in blood serum and cerebrospinal fluid, distinguished behavioral-variant frontotemporal dementia from healthy controls. Downregulation of miR-132-3p in frontal and temporal cortical tissue distinguished frontotemporal lobar degeneration and frontotemporal dementia, respectively, from healthy controls. Possible strong miRNA biofluid biomarker contenders for behavioral-variant frontotemporal dementia are miR-223-3p, miR-15a-5p, miR-22-3p in blood serum and cerebrospinal fluid, and miR-124 in cerebrospinal fluid. No miRNAs were identified able to distinguish between behavioral-variant frontotemporal dementia and primary progressive aphasia subtypes. Further studies are warranted on investigating miRNA expression in biofluids and frontal/temporal cortical tissue to validate and extend these findings.

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Objective: To describe the demographic characteristics, initial psychiatric diagnoses, and the time to reach a diagnosis of probable behavioral variant frontotemporal dementia (bvFTD) in a public psychiatric hospital in Cali, Colombia. Methods: We retrospectively reviewed the medical records of 28 patients who were diagnosed with probable bvFTD based on a multidisciplinary evaluation that included a structural MRI, neuropsychological testing, functional assessment, and neurological exam. Prior to this evaluation, all patients were evaluated by a psychiatrist as part of their initial consultation at the hospital. The initial consultation included the Neuropsychiatric Inventory and diagnoses based on the DSM-V. Demographics, clinical features, and initial psychiatric misdiagnoses were extracted from clinical records and summarized in the full sample and by gender. Results: The study sample had a mean education of 10.0 years (SD = 4.9) and 68.0% were female. In the full sample, 28.6% were initially diagnosed with dementia, and 71.4% with a psychiatric disorder. The psychiatric diagnosis at initial consultation differed by gender. Women were most likely to be diagnosed with depression (26.3%) or bipolar disorder (26.3%), while the men were most likely to be diagnosed with anxiety (33.3%) or a psychotic disorder (22.2%). Psychotic symptoms were common (delusions, 60.7% and hallucinations, 39.3%), and the pattern of neuropsychiatric symptoms did not differ by gender. Conclusions: This is one of few case series of bvFTD in a Colombian population, where bvFTD is a recognizable and prevalent disorder. In this psychiatric hospital, the majority of patients with bvFTD were initially diagnosed with a primary psychiatric condition. There was a gender difference in psychiatric diagnosis, but not in neuropsychiatric symptoms. In this sample, the rate of psychiatric misdiagnosis, as well as the psychotic symptoms, were higher compared to rates described in other countries. These results highlight the need for interventions to improve bvFTD diagnosis in under-represented populations.

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Introduction: Corticobasal syndrome (CBS) is a progressive neurological disorder related to multiple underlying pathologies, including four-repeat tauopathies, such as corticobasal degeneration and progressive supranuclear palsy, and Alzheimer's disease (AD). Speech and language are commonly impaired, encompassing a broad spectrum of deficits. We aimed to investigate CBS speech and language impairment patterns in light of a multimodal imaging approach. Materials and Methods: Thirty-one patients with probable CBS were prospectively evaluated concerning their speech-language, cognitive, and motor profiles. They underwent positron emission tomography with [18F]fluorodeoxyglucose (FDG-PET) and [11C]Pittsburgh Compound-B (PIB-PET) on a hybrid PET-MRI machine to assess their amyloid status. PIB-PET images were classified based on visual and semi-quantitative analyses. Quantitative group analyses were performed on FDG-PET data, and atrophy patterns on MRI were investigated using voxel-based morphometry (VBM). Thirty healthy participants were recruited as imaging controls. Results: Aphasia was the second most prominent cognitive impairment, presented in 67.7% of the cases, following apraxia (96.8%). We identified a wide linguistic profile, ranging from nonfluent variant-primary progressive aphasia to lexical-semantic deficits, mostly with impaired verbal fluency. PIB-PET was classified as negative (CBS-A- group) in 18/31 (58%) and positive (CBS-A+ group) in 13/31 (42%) patients. The frequency of dysarthria was significantly higher in the CBS-A- group than in the CBS-A+ group (55.6 vs. 7.7%, p = 0.008). CBS patients with dysarthria had a left-sided hypometabolism at frontal regions, with a major cluster at the left inferior frontal gyrus and premotor cortex. They showed brain atrophy mainly at the opercular frontal gyrus and putamen. There was a positive correlation between [18F]FDG uptake and semantic verbal fluency at the left inferior (p = 0.006, R 2 = 0.2326), middle (0.0054, R 2 = 0.2376), and superior temporal gyri (p = 0.0066, R 2 = 0.2276). Relative to the phonemic verbal fluency, we found a positive correlation at the left frontal opercular gyrus (p = 0.0003, R 2 = 0.3685), the inferior (p = 0.0004, R 2 = 0.3537), and the middle temporal gyri (p = 0.0001, R 2 = 0.3993). Discussion: In the spectrum of language impairment profile, dysarthria might be helpful to distinguish CBS patients not related to AD. Metabolic and structural signatures depicted from this feature provide further insights into the motor speech production network and are also helpful to differentiate CBS variants.

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INTRODUCTION: There is a shortage of validated instruments to estimate disease progression in frontotemporal dementia (FTD). OBJECTIVES: To evaluate the ability of the FTD Rating Scale (FTD-FRS) to detect functional and behavioral changes in patients diagnosed with the behavioral variant of FTD (bvFTD), primary progressive aphasia (PPA), and Alzheimer disease (AD) after 12 months of the initial evaluation, compared to the Clinical Dementia Rating scale-frontotemporal lobar degeneration (CDR-FTLD) and the original Clinical Dementia Rating scale (CDR). METHODS: The sample consisted of 70 individuals, aged 40+ years, with at least 2 years of schooling, 31 with the diagnosis of bvFTD, 12 with PPA (8 with semantic variant and 4 with non-fluent variant), and 27 with AD. The FTD-FRS, the CDR, and the 2 additional CDR-FTLD items were completed by a clinician, based on the information provided by the caregiver with frequent contact with the patient. The Addenbrooke Cognitive Examination-Revised was completed by patients. After 12 months, the same protocol was applied. RESULTS: The FTD-FRS, CDR-FTLD, and CDR detected significant decline after 12 months in the 3 clinical groups (exception: FTD-FRS for PPA). The CDR was less sensitive to severe disease stages. CONCLUSIONS: The FTD-FRS and the CDR-FTLD are especially useful tools for dementia staging in AD and in the FTD spectrum.

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Resumen Introducción. Dentro de las Demencias Frontotemporales (DFT), la variante conductual (DFTvc) es la de mayor prevalencia, estando asociada a una marcada alteración a nivel de comportamiento y regulación emocional. Objetivo. Describir el correlato neuroanatómico en sujetos con DFTvc y las características clínicas neuropsiquiátricas descritas en ellos. Metodología. Se ha realizado una revisión sistemática de artículos publicados entre 2013 y 2018, en relación a la DFTvc, en bases de datos en inglés y español que cumplieran con los criterios de inclusión definidos. Resultados. La DFTvc se asocia a una hipofunción en las zonas de la corteza prefrontal, corteza cingulada, entre otros. La apatía y desinhibición son la principal sintomatología de estudio. Conclusiones. Existe una falta de artículos actualizados que describan las características neuropsiquiátricas junto a su descripción imagenológica en esta población que favorezcan el desarrollo de avances médicos y no médicos de abordaje.

Introduction. Within Frontotemporal Dementia (FTD), Behavioral variant (BvFTD) is the most prevalent, is associated with a marked alteration in behavior and emotional regulation. Objective. Describes the neuroanatomical correlate in subjects with BvFTD and the neuropsychiatric clinical characteristics described in them. Methodology. A systematic review of articles published between 2013 and 2018 has been carried out, in relation to the BvFTD, in databases in english and spanish that meet the inclusion criteria. Results. The BvFTD is associated with a hypofunction in the areas of the prefrontal cortex, cingulate cortex and others. Apathy and disinhibition are the main symptomatology of study. Conclusions. There is a lack of updated articles that describe neuropsychiatric characteristics along with their imaging description in this population that favors the development of medical and non-medical approaches.

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Frontotemporal dementia (FTD) presents clinically in three variants: one behavioral and two with progressive primary aphasia - non-fluent/agrammatic and semantic. Defined by the degenerative process and cerebral atrophy, olfactory dysfunction occurs in up to 96% of previous FTD case series. OBJECTIVE: the present study aims to critically synthesize data about the relationship between FTD and olfactory impairment to analyze the usefulness of olfactory evaluation tests as a complementary element in early diagnosis. METHODS: a database search was performed using the keywords "olfactory OR smell OR olfaction AND frontotemporal dementia". We included studies that evaluated olfactory function in patients diagnosed with frontotemporal dementia, all subtypes, compared with age-matched healthy controls. For comparative purposes, the effect size was calculated using Cohen's D. The studies selected were categorized according to dementia variant and olfactory test type. A meta-analysis was performed using forest plots - homogeneity was evaluated by statistical tests (i2 and Cochran Q). RESULTS: ten articles met the inclusion criteria. Heterogeneity was classified as low for semantic dementia olfactory identification and behavioral variant olfactory discrimination groups (i2 = 0 and 3.4%, respectively) and as moderate for the behavioral variant olfactory identification group (i2 = 32.6%). CONCLUSION: patients with the frontotemporal dementia behavioral variant seem to present with alterations in odor identification, but with preserved discrimination. Scent identification also seems to be impaired in semantic dementia. Therefore, we conclude that olfactory evaluation in these patients is possibly impacted by cognitive alterations and not by sensory deficits. Application of olfactory tests may prove important in differentiating prodromal states from other types of dementia with more pronounced olfactory impairment.

A demência frontotemporal apresenta-se clinicamente em três variantes: uma comportamental e duas com afasia progressiva primária - não fluente/agramática e semântica. Definida pelo processo degenerativo e atrofia cerebral, apresenta uma prevalência de disfunção olfatória de até 96% em séries anteriores. OBJETIVO: o presente estudo objetiva sintetizar criticamente dados sobre a relação entre DFT e o comprometimento olfatório para analisar a utilidade dos testes de avaliação olfatória como elemento complementar no diagnóstico precoce. MÉTODOS: uma pesquisa de banco de dados foi realizada usando as palavras-chave "olfactory OR smell OR olfaction AND frontotemporal dementia". Foram incluídos estudos que avaliaram a função olfatória em pacientes com diagnóstico de demência frontotemporal, todos os subtipos, em comparação com controles saudáveis ​​pareados por idade. Para fins de comparação, o tamanho do efeito foi calculado usando D de Cohen. Os estudos selecionados foram separados por variante de demência e tipo de teste olfativo. Uma meta-análise foi realizada utilizando gráficos floresta - sua homogeneidade foi avaliada por testes estatísticos (i2 e Cochran Q). RESULTADOS: dez artigos preencheram os critérios de inclusão. A heterogeneidade foi classificada como baixa para os grupos de identificação olfatória em demência semântica e discriminação olfatória em variante comportamental (i2 = 0 e 3.4%, respectivamente) e moderada para identificação olfatória no grupo de variante comportamental (i2 = 32.6%). CONCLUSÃO: pacientes com variante comportamental de demência frontotemporal parecem apresentar alterações na identificação de odores, com discriminação preservada. A identificação de odores parece estar prejudicada, também, na demência semântica. Desta forma, concluímos que a avaliação olfatória nesses pacientes é possivelmente impactada por alterações cognitivas e não por déficits sensoriais propriamente. A aplicação de testes olfatórios pode ser importante na diferenciação de estados prodrômicos de outros tipos de demência com comprometimento olfatório mais pronunciado.

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ABSTRACT. Frontotemporal dementia (FTD) presents clinically in three variants: one behavioral and two with progressive primary aphasia - non-fluent/agrammatic and semantic. Defined by the degenerative process and cerebral atrophy, olfactory dysfunction occurs in up to 96% of previous FTD case series. Objective: the present study aims to critically synthesize data about the relationship between FTD and olfactory impairment to analyze the usefulness of olfactory evaluation tests as a complementary element in early diagnosis. Methods: a database search was performed using the keywords "olfactory OR smell OR olfaction AND frontotemporal dementia". We included studies that evaluated olfactory function in patients diagnosed with frontotemporal dementia, all subtypes, compared with age-matched healthy controls. For comparative purposes, the effect size was calculated using Cohen's D. The studies selected were categorized according to dementia variant and olfactory test type. A meta-analysis was performed using forest plots - homogeneity was evaluated by statistical tests (i2 and Cochran Q). Results: ten articles met the inclusion criteria. Heterogeneity was classified as low for semantic dementia olfactory identification and behavioral variant olfactory discrimination groups (i2 = 0 and 3.4%, respectively) and as moderate for the behavioral variant olfactory identification group (i2 = 32.6%). Conclusion: patients with the frontotemporal dementia behavioral variant seem to present with alterations in odor identification, but with preserved discrimination. Scent identification also seems to be impaired in semantic dementia. Therefore, we conclude that olfactory evaluation in these patients is possibly impacted by cognitive alterations and not by sensory deficits. Application of olfactory tests may prove important in differentiating prodromal states from other types of dementia with more pronounced olfactory impairment.

RESUMO. A demência frontotemporal apresenta-se clinicamente em três variantes: uma comportamental e duas com afasia progressiva primária - não fluente/agramática e semântica. Definida pelo processo degenerativo e atrofia cerebral, apresenta uma prevalência de disfunção olfatória de até 96% em séries anteriores. Objetivo: o presente estudo objetiva sintetizar criticamente dados sobre a relação entre DFT e o comprometimento olfatório para analisar a utilidade dos testes de avaliação olfatória como elemento complementar no diagnóstico precoce. Métodos: uma pesquisa de banco de dados foi realizada usando as palavras-chave "olfactory OR smell OR olfaction AND frontotemporal dementia". Foram incluídos estudos que avaliaram a função olfatória em pacientes com diagnóstico de demência frontotemporal, todos os subtipos, em comparação com controles saudáveis ​​pareados por idade. Para fins de comparação, o tamanho do efeito foi calculado usando D de Cohen. Os estudos selecionados foram separados por variante de demência e tipo de teste olfativo. Uma meta-análise foi realizada utilizando gráficos floresta - sua homogeneidade foi avaliada por testes estatísticos (i2 e Cochran Q). Resultados: dez artigos preencheram os critérios de inclusão. A heterogeneidade foi classificada como baixa para os grupos de identificação olfatória em demência semântica e discriminação olfatória em variante comportamental (i2 = 0 e 3.4%, respectivamente) e moderada para identificação olfatória no grupo de variante comportamental (i2 = 32.6%). Conclusão: pacientes com variante comportamental de demência frontotemporal parecem apresentar alterações na identificação de odores, com discriminação preservada. A identificação de odores parece estar prejudicada, também, na demência semântica. Desta forma, concluímos que a avaliação olfatória nesses pacientes é possivelmente impactada por alterações cognitivas e não por déficits sensoriais propriamente. A aplicação de testes olfatórios pode ser importante na diferenciação de estados prodrômicos de outros tipos de demência com comprometimento olfatório mais pronunciado.

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ABSTRACTAround 10-15% of patients diagnosed with frontotemporal dementia (FTD) have a positive family history for FTD with an autosomal dominant pattern of inheritance. Since the identification of mutations in MAPT(microtubuleassociated protein tau gene) in 1998, over 10 other genes have been associated with FTD spectrum disorders, discussed in this review. Along with MAPT, mutations in GRN(progranulin) and C9orf72(chromosome 9 open reading frame 72) are the most commonly identified in FTD cohorts. The association of FTD and motor neuron disease (MND) can be caused by mutations in C9orf72and other genes, such as TARDBP(TAR DNA-binding protein), FUS(fused in sarcoma), UBQLN2(ubiquilin 2). Multisystem proteinopathy is a complex phenotype that includes FTD, Paget disease of the bone, inclusion body myopathy and MND, and can be due to mutations in VCP(valosing containing protein) and other recently identified genes.

RESUMOCerca de 10-15% dos pacientes diagnosticados com demência frontotemporal (FDFT) têm uma história familiar positiva para DFT com um padrão de herança autossômico dominante. Desde a identificação de mutações em MAPT(proteína tau associada a microtúbulos), em 1998, mais de 10 outros genes já foram associados a doenças do espectro da DFT, que são discutidas nesta revisão. Junto com MAPT, mutações em GRN(progranulina) e C9orf72( chromosome 9 open reading frame 72) são as mais comumente identificadas em casuísticas de DFT. A associação de DFT com doença do neurónio motor (DNM) pode ser causada por mutações em C9orf72e outros genes, tais como TARDBP( TAR DNA-binding protein), FUS( fused in sarcoma), UBQLN2(ubiquilina 2) e outros genes. Proteinopatia multissistêmica é um fenótipo complexo que inclui DFT, doença de Paget óssea, miopatia com corpúsculos de inclusão e DNM, e pode ser devida a mutações em VCP( valosin containing protein) e outros genes recentemente identificados.

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Around 10-15% of patients diagnosed with frontotemporal dementia (FTD) have a positive family history for FTD with an autosomal dominant pattern of inheritance. Since the identification of mutations in MAPT (microtubule-associated protein tau gene) in 1998, over 10 other genes have been associated with FTD spectrum disorders, discussed in this review. Along with MAPT, mutations in GRN (progranulin) and C9orf72 (chromosome 9 open reading frame 72) are the most commonly identified in FTD cohorts. The association of FTD and motor neuron disease (MND) can be caused by mutations in C9orf72 and other genes, such as TARDBP (TAR DNA-binding protein), FUS (fused in sarcoma), UBQLN2 (ubiquilin 2). Multisystem proteinopathy is a complex phenotype that includes FTD, Paget disease of the bone, inclusion body myopathy and MND, and can be due to mutations in VCP (valosing containing protein) and other recently identified genes.

Cerca de 10-15% dos pacientes diagnosticados com demência frontotemporal (FDFT) têm uma história familiar positiva para DFT com um padrão de herança autossômico dominante. Desde a identificação de mutações em MAPT (proteína tau associada a microtúbulos), em 1998, mais de 10 outros genes já foram associados a doenças do espectro da DFT, que são discutidas nesta revisão. Junto com MAPT, mutações em GRN (progranulina) e C9orf72 (chromosome 9 open reading frame 72) são as mais comumente identificadas em casuísticas de DFT. A associação de DFT com doença do neurónio motor (DNM) pode ser causada por mutações em C9orf72 e outros genes, tais como TARDBP (TAR DNA-binding protein), FUS (fused in sarcoma), UBQLN2 (ubiquilina 2) e outros genes. Proteinopatia multissistêmica é um fenótipo complexo que inclui DFT, doença de Paget óssea, miopatia com corpúsculos de inclusão e DNM, e pode ser devida a mutações em VCP (valosin containing protein) e outros genes recentemente identificados.

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Several studies have addressed visuospatial and executive skills in artistic activities in Frontotemporal Lobar Degeneration (FTLD) and Alzheimer's disease (AD).OBJECTIVE: To investigate the performance of FTLD patients compared to controls on two artistic tasks. METHODS: Four FTLD patients with mean age of 57 (8.7) years and schooling of 12.2 (4.5) years plus 10 controls with mean age of 62.9 (8.6) years and schooling of 12.3 (4.6) years, were assessed using the Lowenstein Occupational Therapy Cognitive Assessment (LOTCA) and by a three-stage artistic protocol including visual observation, copying and collage, based on a Sisley painting. RESULTS: FTLD patients had lower scores than controls on Visuospatial Perception, Copy, Collage, Examiner's Observation, and Total, showing distinct patterns of performance according to FTLD sub-type: semantic PPA, nonfluent PPA and bvFTD. CONCLUSION: FTLD patients presented impairment in the visuospatial and executive skills required to perform artistic tasks. We demonstrated that the application of the instrument as a complimentary method for assessing cognitive skills in this group of patients is possible. Further studies addressing larger and more homogeneous samples of FTLD patients as well as other dementias are warranted.

Vários estudos relatam as habilidades visuoespaciais em atividades artísticas em Degeneração Lobar Frontotemporal (DLFT) e Demência de Alzheimer (DA). OBJETIVO: Investigar as alterações no desempenho de pacientes com DLFT comparados a controles em tarefas artísticas. MÉTODOS: Quatro pacientes com DLFT (idade média de 57 (8,7) e escolaridade de 12,2 (4,5) anos) e 10 controles (idade média de 62,9 (86) e escolaridade de 12,3 (4,6) anos) foram avaliados através da Bateria de Avaliação Cognitiva de Terapia Ocupacional Lowenstein (LOTCA) e um protocolo de arte em três estágios: observação visual, cópia colorida e colagem baseada em uma pintura de Sisley. RESULTADOS: Os pacientes com DLFT tiveram menores pontuações em Percepção Visoespacial, Cópia, Colagem, Observação do examinador e Total, mostrando distintos tipos de desempenho nos subtipos de DFT variante comportamental, APP não fluente e APP semântica. CONCLUSÃO: Os pacientes com DLFT apresentaram prejuízo nas habilidades executivas e visuoespaciais necessárias ao desempenho nas tarefas artísticas propostas. Evidenciamos ser possível a aplicação deste instrumento como método de avaliação complementar de habilidades cognitivas neste grupo de pacientes. Novos estudos em um grupo maior e mais homogêneo de pacientes com DLFT, bem como em outras demências, são necessários.

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Several studies have addressed visuospatial and executive skills in artistic activities in Frontotemporal Lobar Degeneration (FTLD) and Alzheimer's disease (AD). OBJECTIVE: To investigate the performance of FTLD patients compared to controls on two artistic tasks. METHODS: Four FTLD patients with mean age of 57 (8.7) years and schooling of 12.2 (4.5) years plus 10 controls with mean age of 62.9 (8.6) years and schooling of 12.3 (4.6) years, were assessed using the Lowenstein Occupational Therapy Cognitive Assessment (LOTCA) and by a three-stage artistic protocol including visual observation, copying and collage, based on a Sisley painting. RESULTS: FTLD patients had lower scores than controls on Visuospatial Perception, Copy, Collage, Examiner's Observation, and Total, showing distinct patterns of performance according to FTLD sub-type: semantic PPA, nonfluent PPA and bvFTD. CONCLUSION: FTLD patients presented impairment in the visuospatial and executive skills required to perform artistic tasks. We demonstrated that the application of the instrument as a complimentary method for assessing cognitive skills in this group of patients is possible. Further studies addressing larger and more homogeneous samples of FTLD patients as well as other dementias are warranted.

Vários estudos relatam as habilidades visuoespaciais em atividades artísticas em Degeneração Lobar Frontotemporal (DLFT) e Demência de Alzheimer (DA). OBJETIVO: Investigar as alterações no desempenho de pacientes com DLFT comparados a controles em tarefas artísticas. MÉTODOS: Quatro pacientes com DLFT (idade média de 57 (8,7) e escolaridade de 12,2 (4,5) anos) e 10 controles (idade média de 62,9 (86) e escolaridade de 12,3 (4,6) anos) foram avaliados através da Bateria de Avaliação Cognitiva de Terapia Ocupacional Lowenstein (LOTCA) e um protocolo de arte em três estágios: observação visual, cópia colorida e colagem baseada em uma pintura de Sisley. RESULTADOS: Os pacientes com DLFT tiveram menores pontuações em Percepção Visoespacial, Cópia, Colagem, Observação do examinador e Total, mostrando distintos tipos de desempenho nos subtipos de DFT variante comportamental, APP não fluente e APP semântica. CONCLUSÃO: Os pacientes com DLFT apresentaram prejuízo nas habilidades executivas e visuoespaciais necessárias ao desempenho nas tarefas artísticas propostas. Evidenciamos ser possível a aplicação deste instrumento como método de avaliação complementar de habilidades cognitivas neste grupo de pacientes. Novos estudos em um grupo maior e mais homogêneo de pacientes com DLFT, bem como em outras demências, são necessários.

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Introdução: A deglutição e suas características principais ainda são desconhecidas na demência frontotemporal. Objetivos: Caracterizar a deglutição e o comportamento alimentar de pacientes com diagnóstico de demência frontotemporal que apresentam a variante comportamental (DFTvc) e a afasia progressiva primária (APP). Caracterizar os pacientes com DFT e seus cuidadores. Descrever aspectos cognitivos e comportamentais, funcionalidade global, comunicação funcional, e a funcionalidade da deglutição na DFT. Descrever os problemas de deglutição e do comportamento alimentar na DFTvc e APP. Correlacionar os aspectos cognitivos e comportamentais, funcionalidade global e a comunicação com as características da deglutição. Identificar fatores preditivos da piora da funcionalidade da deglutição e do comportamento alimentar na DFT. Avaliar o comportamento dos instrumentos empregados. Desenvolver a versão reduzida do Questionário de Habilidades de Alimentação e Deglutição nas Demências e do Questionário de Comunicação Funcional na Afasia. Método: Este estudo incluiu 46 indivíduos com DFT nas fases leve, moderada e grave, e seus 46 cuidadores. O Mini exame do estado mental (MEEM) e o Mini exame do estado mental grave (MEEM-g) foram usados para avaliar os aspectos cognitivos. A Escala de estadiamento da demência (CDR-DLFT) foi usada para confirmar a fase da doença. O Inventário Neuropsiquiátrico (INP) foi aplicado para investigar os problemas comportamentais. A Bateria de Avaliação Frontal (BAF) investigou as funções executivas. O Índice das Atividades de Vida Diária (Katz), Questionário para Avaliação da Comunicação Funcional na Afasia (QACFA) e a Escala de funcionalidade da deglutição (EFD) avaliaram as habilidades funcionais. O Questionário de Habilidades de Alimentação e Deglutição nas Demências (QHADD) avaliou as dificuldades na deglutição e alimentação. Resultados: Os grupos DFTvc e APP não mostraram diferença estatisticamente significante no MEEM,...

Introduction: Swallowing and its main characteristics are still unknown in frontotemporal dementia. Objectives: To characterize swallowing and feeding behavior of patients with frontotemporal dementia who have behavioral variant (bvFTD) and primary progressive aphasia (PPA). To characterize patients with FTD and their caregivers.To describe cognitive and behavioral aspects, functionalstatus, functional communication, and swallowing function in FTD.To describe swallowing problems and feeding behavior in bvFTD and PPA. To correlate cognitive and behavioral aspects, functional status, and communication with swallowing. To identify predictive factors associated with worsening of functionality of swallowing and feeding behavior in FTD. To evaluate the instruments used. To develop reduced versions of: "Assessment of Feeding and Swallowing Difficulties in Dementia" and "Functional Outcome Questionnaire Aphasia". Method: This study included 46 individuals with FTD in mild, moderate and severe phases, and their 46 caregivers. The Mini mental state examination (MMSE) and the Severe Mini mental state examination (SMMSE) were used to assess the cognitive aspects. The FTLD-modified Clinical Dementia Rating scale (FTLD-CDR) was used to confirm the stage of the disease. The Neuropsychiatric Inventory (NPI) was applied to investigate the behavioral problems. The Frontal Assessment Battery (FAB) investigated executive functions. The Index of Activities of Daily Living (Katz), Functional Outcome Questionnaire- Aphasia and Swallowing rating scale (SRE) evaluated the functional abilities. The Assessment of Feeding and Swallowing Difficulties in Dementia (QHADD) evaluated the difficulties in swallowing and feeding. Results: bvFTD and PPA groups showed no statistically significant difference in MMSE, CDR and FAB. Caregivers of patients with bvFTD had more hours of care per day compared to patients with PPA (p < 0.05). The groups differed in SRE (p < 0.05). The behavioral...

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ABSTRACT Background: Staging scales for dementia have been devised for grading Alzheimer's disease (AD) but do not include the specific symptoms of frontotemporal lobar degeneration (FTLD). Objective: To translate and adapt the Frontotemporal Dementia Rating Scale (FTD-FRS) to Brazilian Portuguese. Methods: The cross-cultural adaptation process consisted of the following steps: translation, back-translation (prepared by independent translators), discussion with specialists, and development of a final version after minor adjustments. A pilot application was carried out with 12 patients diagnosed with bvFTD and 11 with AD, matched for disease severity (CDR=1.0). The evaluation protocol included: Addenbrooke's Cognitive Examination-Revised (ACE-R), Mini-Mental State Examination (MMSE), Executive Interview (EXIT-25), Neuropsychiatric Inventory (NPI), Frontotemporal Dementia Rating Scale (FTD-FRS) and Clinical Dementia Rating scale (CDR). Results: The Brazilian version of the FTD-FRS seemed appropriate for use in this country. Preliminary results revealed greater levels of disability in bvFTD than in AD patients (bvFTD: 25% mild, 50% moderate and 25% severe; AD: 36.36% mild, 63.64% moderate). It appears that the CDR underrates disease severity in bvFTD since a relevant proportion of patients rated as having mild dementia (CDR=1.0) in fact had moderate or severe levels of disability according to the FTD-FRS. Conclusion: The Brazilian version of the FTD-FRS seems suitable to aid staging and determining disease progression.

RESUMO Introdução: As escalas de estadiamento das demências, como a Clinical Dementia Rating (CDR), foram elaboradas para graduar a doença de Alzheimer (DA) e não incluem os sintomas específicos da degeneração lobar frontotemporal (DLFT). Objetivo: Realizar a tradução e adaptação cultural da Frontotemporal Dementia Rating Scale (FTD-FRS) para o contexto brasileiro e apresentar dados preliminares da sua aplicabilidade. Métodos: O processo de adaptação transcultural consistiu em: tradução, retrotradução (realizadas por tradutores independentes), discussão com especialistas sobre a versão em português e equivalência com a versão original, desenvolvimento da versão final com pequenos ajustes. Foi feita uma aplicação piloto em 12 pacientes com diagnóstico de demência frontotemporal variante comportamental (DFTvc) e 11 com DA, pareados quanto à gravidade da demência (CDR=1). O protocolo de avaliação incluiu a Addenbrooke's Cognitive Examination-Revised (ACE-R), Mini Exame do Estado Mental (MEEM), Executive Interview (EXIT-25), Inventário Neuropsiquiátrico (INP) e a Escala de Avaliação Clínica da Demência (CDR). Resultados: A FTD-FRS na versão brasileira pareceu apropriada. Resultados preliminares revelaram maiores níveis de incapacidade na DFTvc do que em pacientes com DA (DFTvc: 25% leve, 50% moderado, 25% grave; AD: 36.36% leve, 63.64% moderado). A CDR parece subestimar a gravidade da demência na DFTvc, uma vez que uma relevante proporção dos pacientes classificados com leves (CDR=1) de fato apresentaram nível moderado ou grave de comprometimento na FTD-FRS. Conclusão: A versão brasileira da FTD-FRS pode se mostrar adequada para auxiliar no estadiamento e determinar a progressão da DLFT.

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Semantic dementia is characterized by fluent, phonologically adequate speech with various anomias and semantic paraphasias. Performance on semantic tasks is well documented in these patients, although little is known regarding performance on more complex language tasks, such as those involving non-literal language (interpretation of metaphors and proverbs and recognition of irony). OBJECTIVE: To report the investigation of non-literal language in cases of semantic dementia. METHODS: Two cases of semantic dementia were investigated for the presence of deficits in non-literal language abilities using the screening test for Alzheimer's disease with proverbs, metaphor test and irony test. RESULTS: Both patients were found to have low performance on the tests applied, particularly for interpretation of proverbs. CONCLUSION: This poor performance was attributed largely to the characteristic semantic changes of the disease, but some frontal symptoms inherent to other forms of frontotemporal lobar degeneration were also observed which interfered in the testing, such as negativism, reduced attention span, concretism and perseverations.

A demência semântica é caracterizada por fala fluente e adequada fonologicamente e com diversas anomias e parafasias semânticas. O desempenho em tarefas semânticas é bem documentado nestes pacientes, porém pouco se sabe acerca do desempenho em tarefas linguísticas mais complexas, como naquelas que envolvem linguagem não literal (interpretação de metáforas e provérbios e reconhecimento de ironias). OBJETIVO: Relatar a investigação da linguagem não-literal em casos de demência semântica. MÉTODOS: Dois casos de demência semântica foram investigados para a presença de déficits em habilidades de linguagem não-literal, usando o teste de triagem para a doença de Alzheimer com provérbios, teste de metáforas e teste de ironia.RESULTADOS: Verificou-se que ambas as pacientes apresentaram baixo desempenho nos testes aplicados, principalmente na interpretação de provérbios. CONCLUSÃO: O baixo desempenho foi atribuído especialmente às alterações semânticas características da doença, porém também foram observados sintomas frontais característicos de outras formas de degeneração lobar frontotemporal que interferiram na testagem como negativismo, redução do fôlego atencional, concretismo e perseverações.

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Presenile Dementia or Early Onset Dementia (EOD) is a public health problem, it differs from Senile Dementia, and encloses a significant number of cases; nevertheless, it is still poorly understood and underdiagnosed. This study aims to review the prevalence and etiology of EOD, comparing EOD with Senile Dementia, as well as to show the main causes of EOD and their prevalence in population and non-population based studies. The computer-supported search used the following databases: Pubmed/Medline, ISI Web of Knowledge and Scielo. The search terms were alcohol-associated dementia, Alzheimer's disease, dementia, Creutzfeldt-jakob disease, dementia with lewy bodies, early onset dementia, frontotemporal lobar degeneration, Huntington's disease, mixed dementia, neurodegenerative disorders, Parkinson's disease dementia, presenile dementia, traumatic brain injury, vascular dementia. Only papers published in English and conducted from 1985 up to 2012 were preferentially reviewed. Neurodegenerative diseases are the most common etiologies seen in EOD. Among the general population, the prevalence of EOD was found to range between 0 to 700 per 100.000 habitants in groups of 25-64 years old, with an increasing incidence with age. The progression of EOD was found to range between 8.3 to 22.8 new cases per 100.000 in those aged under 65 years. Alzheimer's disease (AD) is the major etiology, followed by Vascular Dementia (VaD) and Frontotemporal Lobar Degeneration (FTLD). A larger number of epidemiological studies to elucidate how environmental issues contribute to EOD are necessary, thus, we can collaborate in the planning and prevention of services toward dementia patients.

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Latin America (LA) is experiencing a rise in the elderly population and a consequent increase in geriatric problemssuch as dementia. There are few epidemiological studies assessing the magnitude of dementia and dementia subtypesin LA. Objective: To identify published community-based studies on the prevalence of FTD in LA countries. Methods: Adatabase search for door-to-door studies on FTD prevalence in LA was performed. The search was carried out on Medline,Embase, and LILACS databases for research conducted between 1994 and 2012. The main inclusion criteria were: use ofany internationally accepted diagnostic criteria and investigation of community samples. Results: Four hundred and ninetytwo articles were found, of which 26 were initially pre-selected by title or abstract review. Five studies from 3 differentcountries were included. The FTD prevalence rates in community-dwelling elderly were 1.2 (Venezuela), 1.3 (Peru) and1.7-1.8 (Brazil) per thousand persons, depending on age group. Conclusion: The FTD prevalence in LA studies showedvalues mid-way between those observed in western and in oriental populations. Despite the magnitude of this problem,epidemiological information on FTD remains scarce in LA.

A América Latina (AL) está experimentando um aumento na população de idosos e um consequente aumento nosproblemas geriátricos, como demência. Existem poucos estudos epidemiológicos avaliando a magnitude de demência edemência subtipos na AL Objetivo: Identificar publicações baseadas em estudos sobre a prevalência da FTD em países daAL. Métodos: A pesquisa realizada foi por estudos de prevalência de FTD em comunidade na AL. A pesquisa foi realizada emMed-line, Embase, e LILACS no período entre 1994 e 2012. Os principais critérios de inclusão foram: utilização de quaisquercritérios internacionalmente aceitos de diagnóstico e investigação de amostras em comunidade. Resultados: Quatrocentose noventa e dois artigos foram encontrados, dos quais 26 foram inicialmente pré-selecionados pelo título ou fiscalização doabstract. Cinco estudos de 3 países diferentes foram incluídos. As taxas de prevalência na comunidade em idosos com FTDeram 1,2 (Venezuela), 1,3 (Peru) e 1,7-1,8 (Brasil) por mil pessoas, dependendo da faixa etária. Conclusão: A prevalênciaFTD em estudos da AL, apresentaram valores intermediários entre os observados em populações ocidentais e orientais. Apesarda magnitude do problema, informações epidemiológicas sobre FTD permanecem escassas em AL.

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Frontotemporal lobar degeneration (FTLD) is the second most common cause of presenile dementia. Three main clinical variants are widely recognized within the FTLD spectrum: the behavioural variant of frontotemporal dementia (bvFTD), semantic dementia (SD) and progressive non-fluent aphasia (PNFA). FTLD represents a highly heterogeneous group of neurodegenerative disorders which are best classified according to the main protein component of pathological neuronal and glial inclusions. The most common pathological class of FTLD is associated with the TDP-43 protein (FTLD-TDP), while FTLD-Tau is considered slightly less common while the FTLD-FUS (Fused in sarcoma protein) pathology is rare. In this review, these three major pathological types of FTLD are discussed.

A degeneração lobar frontotemporal (DLFT) é a segunda principal causa de demência pré-senil. Sob o diagnóstido de DLFT, há três principais diagnósticos clínicos: demência frontotemporal variante comportamental (DFTvc), demência semântica (DS) e a afasia progressiva não Fluente (APNF). A DLFT representa um grupo heterogêneo de desordens degenerativas que são classificadas de acordo com o componente proteico patológico das inclusões neuronais e gliais. A classe patológica mais comum das DLFT é associada com a proteína TDP-43 (DLFT-TDP), seguida pela DLFT-Tau, enquanto a DLFT-FUS é rara. Nesta revisão, nós iremos discutir os três principais subtipos patológicos da DLFT.

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