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In this study, we address three key challenges in photonic crystals: modeling of isolated flat bands, electric field prediction, and band separation in dispersion relations. Using twisted square Bravais lattices at specific angles, we create Bravais-Moiré photonic crystals exhibiting unique characteristics. These include band pairing and parallelism in certain Brillouin zones, enabling predictable electric field behavior and identification of isolated, flat band pairs within extensive band gaps. We apply advanced Shape theory-based classification methods for precise band separation, offering significant contributions to photonics research and light manipulation applications.
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Early cognitive changes due to Alzheimer's disease (AD) include difficulties in semantic access and working memory. Using a computerized cognitive test developed by our group, called the Memory for Semantically Related Objects test (MESERO), we evaluated if cognitively unimpaired carriers of an autosomal dominant AD (ADAD) mutation performed worse on this test than non-carrier family members. 35 cognitively unimpaired ADAD mutation carriers and 26 non-carrier family members from a Colombian ADAD cohort took the MESERO on a laptop computer. Cognitively unimpaired ADAD carriers had significantly worse MESERO total scores than non-carrier family members, driven by worse performance in semantically-related object sets; group performances did not differ on semantically unrelated object sets. Findings suggest that MESERO performance may be sensitive to subtle cognitive changes associated with AD. Future MESERO research should examine performances between healthy older adults and people at risk for sporadic AD.
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Doença de Alzheimer , Humanos , Idoso , Doença de Alzheimer/psicologia , Mutação/genética , Testes Neuropsicológicos , ColômbiaRESUMO
Background: Weight loss and malnutrition are frequent findings in late-onset and sporadic presentations of Alzheimer's Disease (AD). However, less is known about nutritional status in Early-Onset Autosomal Dominant AD (EO-ADAD). Objective: To analyze the association between nutritional status and other clinical and sociodemographic characteristics in individuals with a genetic form of EO-ADAD. Design settings and participants: Cross-sectional study with 75 non-institutionalized participants from a cohort of Autosomal Dominant AD (13 with mild cognitive impairment and 61 with dementia, ages from 38 to 67 years) underwent a structured clinical assessment with emphasis on nutritional status. Measurements: Primary outcome was nutritional status and it was measured using the Mini Nutritional Assessment (MNA). Patients were categorized according to MNA total score, as undernourished (MNA ≤23.5) and well-nourished (MNA ≥ 24). Sociodemographic and clinical variables identified as potential predictors or confounders of nutritional status were also collected. Results: Undernourishment by MNA was present in 57.3% of the sample. Forty-two percent of participants had abnormal BMI values considered lower than 18.5 or higher than 24.9 kg/m2. Total BMI values were similar in well and undernourished patients (median 24.2 IQR 3.59 and median 23.9 IQR 4.42, respectively, p=0.476). When comparing well and undernourished groups, we found statistically significant differences for variables: severity of dementia (p=0.034), frailty (p=0.001), multimorbidity (p=0.035) and, polymedication (p=0.045). Neither adjusted logistic regression nor the Poisson regression showed that any clinical or sociodemographic variables explained undernourishment. Conclusions: Undernourishment was a frequent finding in our sample of EO-ADAD, especially in later stages of the disease. Patients with polymedication, multimorbidity, frailty and severe dementia show differences in their nutritional status with a tendency to be more frequently undernourished. Further studies with larger sample sizes are needed to establish this association.
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BACKGROUND AND OBJECTIVES: Parkinson's disease is a neurological disorder that affects the motor system producing lack of coordination, resting tremor, and rigidity. Impairments in handwriting are among the main symptoms of the disease. Handwriting analysis can help in supporting the diagnosis and in monitoring the progress of the disease. This paper aims to evaluate the importance of different groups of features to model handwriting deficits that appear due to Parkinson's disease; and how those features are able to discriminate between Parkinson's disease patients and healthy subjects. METHODS: Features based on kinematic, geometrical and non-linear dynamics analyses were evaluated to classify Parkinson's disease and healthy subjects. Classifiers based on K-nearest neighbors, support vector machines, and random forest were considered. RESULTS: Accuracies of up to 93.1% were obtained in the classification of patients and healthy control subjects. A relevance analysis of the features indicated that those related to speed, acceleration, and pressure are the most discriminant. The automatic classification of patients in different stages of the disease shows κ indexes between 0.36 and 0.44. Accuracies of up to 83.3% were obtained in a different dataset used only for validation purposes. CONCLUSIONS: The results confirmed the negative impact of aging in the classification process when we considered different groups of healthy subjects. In addition, the results reported with the separate validation set comprise a step towards the development of automated tools to support the diagnosis process in clinical practice.
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Escrita Manual , Doença de Parkinson/fisiopatologia , Máquina de Vetores de Suporte , Adulto , Idoso , Idoso de 80 Anos ou mais , Algoritmos , Fenômenos Biomecânicos , Aprendizado Profundo , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Modelos Teóricos , Dinâmica não Linear , Reconhecimento Automatizado de Padrão , Reprodutibilidade dos Testes , TremorRESUMO
The study of individuals with autosomal dominant Alzheimer's disease affords one of the best opportunities to characterize the biological and cognitive changes of Alzheimer's disease that occur over the course of the preclinical and symptomatic stages. Unifying the knowledge gained from the past three decades of research in the world's largest single-mutation autosomal dominant Alzheimer's disease kindred - a family in Antioquia, Colombia with the E280A mutation in the Presenilin1 gene - will provide new directions for Alzheimer's research and a framework for generalizing the findings from this cohort to the more common sporadic form of Alzheimer's disease. As this specific mutation is virtually 100% penetrant for the development of the disease by midlife, we use a previously defined median age of onset for mild cognitive impairment for this cohort to examine the trajectory of the biological and cognitive markers of the disease as a function of the carriers' estimated years to clinical onset. Studies from this cohort suggest that structural and functional brain abnormalities - such as cortical thinning and hyperactivation in memory networks - as well as differences in biofluid and in vivo measurements of Alzheimer's-related pathological proteins distinguish Presenilin1 E280A mutation carriers from non-carriers as early as childhood, or approximately three decades before the median age of onset of clinical symptoms. We conclude our review with discussion on future directions for Alzheimer's disease research, with specific emphasis on ways to design studies that compare the generalizability of research in autosomal dominant Alzheimer's disease to the larger sporadic Alzheimer's disease population.
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Doença de Alzheimer/fisiopatologia , Peptídeos beta-Amiloides/metabolismo , Encéfalo/diagnóstico por imagem , Fragmentos de Peptídeos/metabolismo , Presenilina-1/genética , Adolescente , Adulto , Doença de Alzheimer/diagnóstico por imagem , Doença de Alzheimer/genética , Doença de Alzheimer/metabolismo , Peptídeos beta-Amiloides/sangue , Peptídeos beta-Amiloides/líquido cefalorraquidiano , Compostos de Anilina , Doenças Assintomáticas , Biomarcadores/sangue , Biomarcadores/líquido cefalorraquidiano , Biomarcadores/metabolismo , Encéfalo/metabolismo , Encéfalo/fisiopatologia , Criança , Colômbia , Imagem de Tensor de Difusão , Progressão da Doença , Eletroencefalografia , Etilenoglicóis , Feminino , Neuroimagem Funcional , Humanos , Imageamento por Ressonância Magnética , Masculino , Testes de Estado Mental e Demência , Pessoa de Meia-Idade , Fragmentos de Peptídeos/sangue , Fragmentos de Peptídeos/líquido cefalorraquidiano , Tomografia por Emissão de Pósitrons , Compostos Radiofarmacêuticos , Tomografia Computadorizada de Emissão de Fóton Único , Adulto JovemRESUMO
Attention-deficit/hyperactivity disorder (ADHD) is a heritable, chronic, neurodevelopmental disorder with serious long-term repercussions. Despite being one of the most common cognitive disorders, the clinical diagnosis of ADHD is based on subjective assessments of perceived behaviors. Endophenotypes (neurobiological markers that cosegregate and are associated with an illness) are thought to provide a more powerful and objective framework for revealing the underlying neurobiology than syndromic psychiatric classification. Here, we present the results of applying genetic linkage and association analyses to neuropsychological endophenotypes using microsatellite and single nucleotide polymorphisms. We found several new genetic regions linked and/or associated with these endophenotypes, and others previously associated to ADHD, for example, loci harbored in the LPHN3, FGF1, POLR2A, CHRNA4 and ANKFY1 genes. These findings, when compared with those linked and/or associated to ADHD, suggest that these endophenotypes lie on shared pathways. The genetic information provided by this study offers a novel and complementary method of assessing the genetic causes underpinning the susceptibility to behavioral conditions and may offer new insights on the neurobiology of the disorder.
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Transtorno do Deficit de Atenção com Hiperatividade/genética , Endofenótipos/análise , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Transtornos Cognitivos/genética , Colômbia , Etnicidade/genética , Feminino , Estudos de Associação Genética/métodos , Ligação Genética/genética , Predisposição Genética para Doença/genética , Predisposição Genética para Doença/psicologia , Humanos , Masculino , Repetições de Microssatélites/genética , Pessoa de Meia-Idade , Testes Neuropsicológicos , Linhagem , Polimorfismo de Nucleotídeo Único/genéticaRESUMO
La demencia es la pérdida de varias áreas del funcionamiento cognitivo respecto al nivel premórbido, con deterioro significativo en la funcionalidad. La más común es ocasionada por la enfermedad de Alzheimer, que se define como un trastorno neurodegenerativo que produce una alteración progresiva de la memoria y de otras habilidades mentales, por una pérdida de volumen en los lóbulos temporales, en especial en las áreas mediales como el hipocampo y la corteza entorrinal. Menos del 5% de los pacientes con esta enfermedad presenta formas hereditarias que pueden tener un inicio precoz (antes de los 65 años) o tardío (después de dicha edad). La EA precoz presenta un patrón de herencia autosómico dominante y puede ser causado por mutaciones en el gen de la proteína precursora de amiloide, en presenilina-1 o presenilina-2. Los casos de EA tardía, están influenciados por una genética compleja, con múltiples factores de susceptibilidad y el alelo ApoE4 es el principal y más reconocido. La EA es una enfermedad heterogénea tanto en su genotipo como en su fenotipo que varían en cuanto a intensidad y tipo de síntomas, edad de inicio y severidad de la demencia, de acuerdo con las mutaciones que el paciente presenta y su interacción con factores ambientales.
Dementia is known as the loss of multiple areas of cognitive function with respect to a premorbid condition, involving a significant deterioration in functionality. The most common subtype is Alzheimer's disease, which is defined as a neurodegenerative disorder that causes a progressive deterioration in memory and other mental capacities due to volume loss in temporal lobes, especially in mesial aspects, such as the hippocampus and the entorhinal cortex. Approximately 5% of patients affected by this disease have a hereditary form, with an early onset (before 65 years) or a late onset (after 65 years). Early onset Alzheimer's disease has a genetic autosomal dominant inheritance pattern, which can be caused by mutations in the gene encoding for the amyloid precursor protein, presenilin-1, or presenilin-2. In the cases of late onset Alzheimer's disease, there is a complex genetic influence, with multiple susceptibility factors, where the ApoE4 allele is the main and most recognized factor. Alzheimer's disease is a heterogeneous dementia, both in genotype and phenotype, varying in intensity and symptoms, age of onset, and severity of the disease, depending on the different mutations that a patient may have and the interactions with environmental factors.
A demência é a perda de várias áreas do funcionamento cognitivo com respeito ao nível pré-mórbido, com deterioro significativo na funcionalidade. A mais comum é ocasionada pela doença de Alzheimer, que se define como um transtorno neurodegenerativo que produz uma alteração progressiva da memória e de outras habilidades mentais, por uma perda de volume nos lóbulos temporais, em especial nas áreas mediais como o hipocampo e o córtex entorrinal. Menos de 5% dos pacientes com esta doença apresenta formas hereditárias que podem ter um início precoce (antes dos 65 anos) ou tardio (depois de dita idade). A D.A. precoce apresenta um padrão de herança autossômico dominante e pode ser causado por mutações no gene da proteína precursora de amiloide, em presenilina-1 ou presenilina-2. Os casos de D.A. tardia, estão influenciados por uma genética complexa, com múltiplos fatores de susceptibilidade e o alelo ApoE4 é o principal e mais reconhecido. A D.A. é uma doença heterogénea tanto em seu genótipo como em seu fenótipo que variam em quanto a intensidade e tipo de sintomas, idade de inicio e severidade da demência, de acordo com as mutações que o paciente apresenta e sua interação com fatores ambientais.
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Humanos , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Demência , Cognição , Doenças Neurodegenerativas , Apolipoproteína E4 , Presenilina-1 , Presenilina-2 , Doença de Alzheimer , Genética , Amnésia , MemóriaRESUMO
INTRODUCTION: The clinical signs of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) are expressed mainly in the nervous system and recently reports also situate them in the retina. AIM: To determine the prevalence and risk of periodontal disease in subjects from families with a history of CADASIL mutation in the department of Antioquia, Colombia. SUBJECTS AND METHODS: A cross-sectional study was conducted, with subjects being assigned to the CADASIL group or a control group according to genotyping for the R1031C and C455R mutation in Notch3. Each participant voluntarily signed the informed consent document and was submitted to neurological, neuropsychological and periodontal evaluation. RESULTS: No significant differences were found between the two groups according to age, sex, schooling, tobacco smoking, cognitive status, functional status and the presence of natural teeth. The frequency of soft plaque, gingivitis and periodontal disease was significantly higher in the group of carriers of the CADASIL mutation than in the control group. The CADASIL group had six times more risk of having soft plaque above or equal to 20% than the control group. Prevalence of gingivitis above or equal to 10% was observed in all the members of the CADASIL group. The people in the CADASIL group had five times more risk of suffering periodontal disease than the control group. CONCLUSIONS: Carriers of the CADASIL mutation displayed a higher prevalence and risk of periodontal disease.
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CADASIL/complicações , CADASIL/diagnóstico , Doenças Periodontais/epidemiologia , Doenças Periodontais/etiologia , Adulto , CADASIL/genética , Estudos Transversais , Feminino , Humanos , Masculino , Mutação , Doenças Periodontais/genética , PrevalênciaRESUMO
INTRODUCTION: Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer's disease, and it is characterised by tremor, bradykinesia, rigidity and postural instability. The most frequent cognitive disorder is executive dysfunction, although global deficits associated to late onset of the disease have also been reported. AIMS: To describe and to compare cognitive performance in three groups with PD and one with Parkinsonism. PATIENTS AND METHODS: A neurological and neuropsychological evaluation was carried out on 175 patients with idiopathic PD and Parkinsonism. The data analysis was performed by comparing the results of the tests carried out on the four groups: three with PD (age of onset: juvenile, adult and late) and one with Parkinsonism, while controlling for age, schooling and time of progression. RESULTS: In the juvenile PD group, alterations were observed in the number of intrusions in verbal memory; in the adult PD and late PD groups, there were alterations in time in continuous visual execution. These differences disappeared when the groups were compared to each other while also controlling for age. The Parkinsonism group obtained results that were lower than those of all the groups with PD for most of the cognitive and functional variables. CONCLUSIONS: Idiopathic PD would not be the cause of multiple cognitive impairment, but of a specific alteration, mainly involving the speed of processing and information recall. Age of onset would not be a decisive factor in the degree of impairment of cognitive functioning; important cognitive impairment was only present in the group with Parkinsonism.
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Testes Neuropsicológicos , Doença de Parkinson/psicologia , Transtornos Parkinsonianos/psicologia , Desempenho Psicomotor , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Rememoração Mental , Pessoa de Meia-Idade , Condução Nervosa , Doença de Parkinson/epidemiologia , Transtornos Parkinsonianos/epidemiologia , Adulto JovemRESUMO
INTRODUCTION: The Wender-Utah Rating Scale (WURS) has been used for retrospective screening of attention deficit hyperactivity disorders (ADHD) symptoms and its comorbidities. AIM: To establish the ADHD behavioral phenotype dimensions of adults from 140 Antioquian families with genetic segregation for ADHD diagnosis, using the WURS -Spanish version. SUBJECTS AND METHODS: 392 adults from both genders, belonging to nuclear and multigenerational families with one or more ADHD affected members were selected. The Composite International Diagnostic Interview (CIDI) for mental disorder was administered to establish the gold standard diagnosis of ADHD through the long life. All participants fulfill the WURS. Exploratory and confirmatory factor analyses were done to determine the behavioral dimensions of the ADHD phenotype. RESULTS: A factor structure of four dimensions was derived, measuring behavioral decontrol, hyperactivity, inattention and anxiety, and which explained the 60% of the total variance. CONCLUSIONS: The behavioral adult ADHD phenotype in the Antioquian families was conformed by four dimensions, which could be used in heritability and linkage future studies.
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Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia , Comportamento/fisiologia , Escalas de Graduação Psiquiátrica , Adulto , Transtorno do Deficit de Atenção com Hiperatividade/genética , Comorbidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Determinação da Personalidade , Inventário de Personalidade , Fenótipo , Estudos Retrospectivos , Espanha , Inquéritos e QuestionáriosRESUMO
INTRODUCTION: Intrusive errors in verbal memory tests could be considered as a preclinical marker of familial Alzheimer disease (AD). AIMS. To analyze and to compare the number and types of intrusive errors in the CERAD verbal memory test, administered to a genealogy of affected by familial AD, with E280A presenilin-1 mutation. PATIENTS AND METHODS: Sample was constituted by 30 asymptomatic non-carriers (ANC), 39 non-demented carriers (NDC) and 21 demented carriers (DC). CERAD verbal memory test was administered to the sample. Comparisons, with non parametric Kruskal-Wallis' analysis, were done. RESULTS: NDC participants presented more intrusive errors than ANC group in the first and second trials and in the delay recall of the memory task; also they had more intrusive errors than the DC patients in intrusive errors of the first trial and delay recall of the same task. The ANC and DC groups had significantly more intrusions only in third trial. CONCLUSION: Intrusive errors could be considered as a cognitive preclinical marker for familial AD.
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Doença de Alzheimer/genética , Biomarcadores , Transtornos da Memória , Mutação , Testes Neuropsicológicos , Presenilina-1/genética , Adulto , Doença de Alzheimer/fisiopatologia , Heterozigoto , Humanos , Memória , Transtornos da Memória/genética , Transtornos da Memória/fisiopatologia , Pessoa de Meia-Idade , Comportamento Verbal/fisiologiaRESUMO
INTRODUCTION: Mild cognitive impairment (MCI) is a clinical syndrome that presents with memory disorders, normal general cognition, and no compromise of activities of daily living or dementia. Its diagnosis has important clinical implications, since it behaves as a possible predictor of cognitive disorders that would suggest the onset of dementia. Amnestic-type MCI is considered to be a stage prior to Alzheimer-type dementia. The prevalence of MCI varies from 1-29% and the existence of this diagnosis implies a risk of presenting dementia at 12% per year. AIM: To establish the prevalence of amnestic-type MCI in a group of persons over the age of 50 years from the Valle de Aburra. PATIENTS AND METHODS: The sample was made up of 848 participants of both genders, over 50 years old, who lived in the metropolitan area of Medellin and had different socioeconomic and educational levels. Amnestic MCI was diagnosed according to the criteria proposed by the American Academy of Neurology. RESULTS: Prevalence of amnestic MCI was 9.7%, and was more predominant in males (p = 0.01) than in females. The prevalence was significantly lower in the group with more than 12 years of schooling (p < 0.05), and no significant differences in the prevalence were found in relation to age or economic status. CONCLUSION: The prevalence of amnestic MCI, 9.7%, found in our study is within the range reported by other researchers.
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Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/epidemiologia , Idoso , Amnésia , Transtornos Cognitivos/classificação , Colômbia , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Índice de Gravidade de DoençaRESUMO
INTRODUCTION: As part of the normal ageing process, cognitive deterioration clearly takes place in memory, attention and the information processing speed (IPS). Among the intervention strategies commonly used, combined programmes like those involving memory and psychomotor skills have the greatest beneficial effects on cognition in the short and long term. AIM: To evaluate the effects of a combined memory and psychomotor training programme entitled 'Independence in Older age' (SIMA) on the cognitive performance of a population sample of healthy elderly adults. SUBJECTS AND METHODS: A cross-sectional study was conducted on 95 elderly adults (49 in the intervention group and 46 in the control group) before and after a 20-session training programme. Both intergroup (intervention group versus control group) and intragroup (each group individually) cognitive performance was analysed. The two groups were paired by age, sex and schooling. RESULTS: The intergroup analysis following the training showed statistically and clinically significant differences in two IPS variables: conflict and interference in the colour-word test, which had a size effect of -1.31 and -1.38, respectively; the performance of the group of trained elderly adults was better than that of the controls. Likewise, in the intragroup analysis significant differences were found in these two variables in the group that received the intervention, with a size effect of -1.27 and -1.15. CONCLUSION: Findings show positive effects of combined SIMA memory and psychomotor training, especially in selective attention and the IPS with a healthy elderly adult population.
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Transtornos Cognitivos/terapia , Memória , Desempenho Psicomotor , Idoso , Cognição , Estudos Transversais , Feminino , Humanos , Masculino , Psicoterapia/métodosRESUMO
INTRODUCTION: Alzheimer's disease (AD) is an important public health problem due to its disabling character and high individual, familial and social costs. The CERAD neuropsychological battery has been widely used for evaluation and diagnosis of the cognitive deficit associated with AD. This instrument has been adapted to the Colombian culture (CERAD-Col) for the Neurosciences Group. SUBJECTS AND METHODS: A study was carried out to establish the validity and reliability of the CERAD-Col in Colombian, Spanish-speaking individuals aged 50 years or more. It included 151 controls and 151 AD patients. Controls were selected from a convenience sample of 848 adults aged 50 years or more. The construct validity was determined in three ways: 1) factorial analysis; 2) correlation with the functional scales FAST and GDS (convergent-type validity) and, 3) comparison between the two groups. Internal consistency was determined by means of Cronbach's alpha coefficient. RESULTS: Three factors -memory, language and praxis- explained 88% of the total variance. Moderate but statistically significant correlations were found between neuropsychological tests and functional scales. Internal consistency and test-retest reproducibility were high. The AD group exhibited significantly lower scores (p < 0.05) than the control one. CONCLUSION: CERAD-Col is valid and reliable for the diagnosis of AD in Colombian Spanish-speaking population aged 50 years or more.
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Doença de Alzheimer/psicologia , Testes Neuropsicológicos , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/epidemiologia , Colômbia/epidemiologia , Feminino , Humanos , Testes de Linguagem , Masculino , Transtornos da Memória/epidemiologia , Transtornos da Memória/psicologia , Pessoa de Meia-Idade , Desempenho Psicomotor , Reprodutibilidade dos TestesRESUMO
INTRODUCTION: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disease that affects small vessels and presents with vascular episodes, neuropsychiatric disorders, migraine and cognitive impairment. The cognitive disorder varies according to the time elapsed since onset. It is a condition with a subcortical origin related to executive dysfunction, slowing, attention-related disorders and memory disorders. AIM: To define the cognitive characteristics in two neuropsychological evaluations of carriers of Notch3 gene mutations as compared to non-carriers belonging to Colombian families with CADASIL. SUBJECTS AND METHODS: The study followed a longitudinal, retrospective design with 140 participants, including both carriers and non-carriers of the mutation. Cognitive performance was analysed by comparing the first and the last neuropsychological evaluation carried out on each subject at a four-year interval. RESULTS: There were statistically significant differences (p < 0.05) between the two groups in the last evaluation, but only in some tests. Carriers and non-carriers did not display any significant changes between the first and the last evaluation. CONCLUSIONS: No differences were found between both groups in the two evaluations. Cognitive impairment is not observed with the passage of time in carriers, probably owing to the fact that most of them were young, asymptomatic subjects. We believe that four years' follow-up is not enough time to observe a significant progression in the alterations affecting the cognitive functions in carriers of mutations in the Notch3 gene, which causes CADASIL. We also consider that more sensitive cognitive tools are needed to perform the neuropsychological evaluation.
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CADASIL/psicologia , Transtornos Cognitivos/etiologia , Adulto , CADASIL/epidemiologia , CADASIL/genética , Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/psicologia , Colômbia/epidemiologia , Progressão da Doença , Feminino , Seguimentos , Genes Dominantes , Humanos , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Exame Neurológico , Testes Neuropsicológicos , Mutação Puntual , Receptor Notch3 , Receptores Notch/genética , Estudos RetrospectivosRESUMO
INTRODUCTION: Specific developmental language disorder (SDLD) is a diagnostic entity in which language is expected to be the only cognitive function that is affected. Nevertheless, difficulties in other cognitive functions may also appear, either because the language disorder is an expression of an underlying condition or because the retarded language development gives rise to cognitive deficits in general. AIM: To determine whether there are any differences in the cognitive performance of children with SDLD and that of children who have developed normally. SUBJECTS AND METHODS: The study involved a sample of 51 children with SDLD, aged between 6 and 16 years, and 49 children in a control group, who were paired by chronological age, sex and socioeconomic level. Verbal cognitive capacity, attention, memory, visual-constructional and executive functioning were all evaluated. RESULTS: Statistically and clinically significant differences were found in the verbal-type skills, such as language comprehension and verbal cognitive capacity, which showed effect sizes of -1.31 and -1.33, respectively. In the other functions that were assessed, the performance of the SDLD group was slightly lower than that of the control group, but with no clinically significant differences. CONCLUSION: These findings show that the group of children with SDLD was well selected, since the only differences between the two groups involve linguistic aspects; moreover, this evidence supports the idea that language and other cognitive functions are relatively independent and that a language disorder would only generate an unspecific general effect in the other cognitive functions.
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Cognição/fisiologia , Transtornos do Desenvolvimento da Linguagem , Desenvolvimento da Linguagem , Adolescente , Criança , Feminino , Humanos , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Masculino , Testes NeuropsicológicosRESUMO
INTRODUCTION: Sperry, or interhemispheric disconnection, syndrome was reported in patients who had undergone surgical section of the corpus callosum carried out in an attempt to control medication-resistant epilepsy. It has occasionally been linked to tumours of the corpus callosum and, although even more rarely, it has also been associated to an amnesic syndrome. In this paper we report the anatomical and neuropsychological findings in a patient with interhemispheric disconnection syndrome associated to a hippocampal-type amnesic syndrome, caused by a tumour in the splenius of the corpus callosum that extended into the fornix. CASE REPORT: A 52-year-old white male who visited because of loss of memory; on admission to hospital the physical examination revealed a certain degree of asomatognosia with regard to the left-hand side of the body. An axial tomography brain scan showed a dense central lesion in the brain that extended laterally and occluded the body of both lateral ventricles. A biopsy study revealed an undifferentiated astrocytoma that affected the corpus callosum and the fornix. CONCLUSIONS: Sperry, or interhemispheric disconnection, syndrome produced by a tumour in the splenius of the corpus callosum is very likely to course with an amnesic syndrome due to disconnection caused by destruction of the fornix. This association, which characterised our patient's clinical picture, has only previously been described in three cases.
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Amnésia Anterógrada , Astrocitoma/patologia , Neoplasias Encefálicas/patologia , Córtex Cerebral/patologia , Corpo Caloso/patologia , Fórnice/patologia , Amnésia Anterógrada/etiologia , Amnésia Anterógrada/fisiopatologia , Astrocitoma/complicações , Neoplasias Encefálicas/complicações , Córtex Cerebral/anatomia & histologia , Corpo Caloso/anatomia & histologia , Corpo Caloso/fisiologia , Evolução Fatal , Lateralidade Funcional , Humanos , Masculino , Pessoa de Meia-Idade , Vias Neurais/fisiologia , Testes Neuropsicológicos , SíndromeRESUMO
INTRODUCTION: Available treatments for Alzheimer disease allow that early diagnosis become an important issue, because treatment only are useful during the earliest stage, especially during the mild cognitive impairment (MCI), when the most of the cognitive function is preserved. AIM: To observe the performance on a shortened version of a Semantic Cue Recall Memory Test (SCRMT) from a group of adult aged over 50 years old, living in Medellin city and with dementia of Alzheimer type (DAT). SUBJECTS AND METHODS: The sample was constituted by 30 patients with DAT, 30 with MCI, and 59 healthy controls, which were matched by socio economic strata and school achievement. The SCRMT was administered to the sample. For the analyses two groups of age (50-69 and over 70 years) were conformed. RESULTS: Comparisons statistically significant differences between the groups (p < 0.05). The scores were not significant affected by age. A combination of low scores with the presence of intrusions on the free, immediate cue, and delay cue recalls suggested the diagnosis of DAT, which allow recommending a complete neuropsychological assessment. Statistically significant differences were preserved when the groups were divided by age. The effect of the gender could not determine because the small size of the male sample. CONCLUSION: The shortened version of the SCMRT would appear be useful for the DAT diagnosis.
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Doença de Alzheimer/fisiopatologia , Memória/fisiologia , Testes Neuropsicológicos , Grupos Populacionais , Semântica , Adulto , Idoso , Doença de Alzheimer/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
AIM: This article presents an updated review about the definition, diagnostic criteria, classifications, etiology and the evolution of the specific language impairment (SLI). DEVELOPMENT: The specific language impairment is characterized by a developmental language delay and an impaired language, that persist over time and it is not explained by sensorial, motor and mental disabilities, neither by psycopathological disorders, socio-emotional deprivation, nor brain injury. The diagnosis is based on exclusional criteria. Some researchers propose different classifications considering the children performance in language comprehension and language production. Genetical linkage to the FOXP2 gen in the SPCH1 region of the chromosome 7 and to the chromosomes 13, 16 y 19 has been reported. The neuroimage studies have shown alterations in the volume and perfusion of some brain structures related to language. The manifestations of SLI may change during the development of the children and may disturb the self-esteem, the academic performance and the social abilities. CONCLUSIONS: The variability in the linguistic and cognitive performance, and the variety in the etiological findings in children with SLI, don't allow to settle the affected population as an homogeneous group. Different theoretical positions have emerged as a consequence of this condition.
Assuntos
Transtornos do Desenvolvimento da Linguagem , Cognição/fisiologia , Fatores de Transcrição Forkhead , Ligação Genética , Humanos , Idioma , Transtornos do Desenvolvimento da Linguagem/classificação , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Transtornos do Desenvolvimento da Linguagem/genética , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Fatores de Transcrição/genética , Aprendizagem VerbalRESUMO
INTRODUCTION: Early preclinical diagnosis is the greatest challenge faced by researchers into dementia. Cognitive, neuroanatomical, neurophysiological and genetic markers have been reported. One of the preclinical cognitive markers is anomia and it is often assessed using visual naming tests. AIMS: The aim of this study was to analyse the type of mistakes made in a visual naming test in a group of carriers and non-carriers of the E280A PS1 mutation. PATIENTS AND METHODS: The sample was made up of 91 participants who were genotyped for the E280A PS1 mutation and divided into three groups: non-carriers (n = 30), asymptomatic carriers (n = 39) and sick carriers (n = 22). Selection was performed using the Minimental and the Fast and EDG scales and mistakes in the CERAD naming test were classified. The types of mistakes taken into account were: no answer, visual, semantic, phonological, the whole for the part, and not related. RESULTS: There is a significant difference in the number of semantic errors between non-carriers and asymptomatic carriers; on comparing the three groups, no statistically significant differences were found in visual mistakes. CONCLUSIONS: Visual mistakes are a general characteristic, even in healthy subjects and, therefore, these errors did not provide any information that could be used to classify patients with or without dementia. Semantic mistakes can be considered as being a preclinical sign in familial Alzheimer's disease (FAD). Both visual and auditory naming tests must be applied when evaluating patients with FAD.