A dislexia é um transtorno específico de leitura que consiste em um rendimento na leitura e na escrita inferior ao esperado para a idade cronológica, para nível de escolaridade e para o nível de inteligência, sendo a eficiência intelectual adequada (QI 80). Os principais comprometimentos envolvem habilidades de competências linguísticas como dificuldade de consciência fonológica, memória fonológica, discriminação e nomeação. Estudos apontam relação entre as dificuldades na leitura e na escrita e fatores neurobiológicos. O objetivo deste projeto foi investigar se existem diferenças entre morfometria cerebral através de segmentação automática para análise de espessura e volume e diferenças entre o desempenho cognitivo em testes neuropsicológicos do grupo de indivíduos com dislexia comparados com um grupo controle pareado. Foi realizado um estudo prospectivo no qual participaram 30 crianças, sendo 15 indivíduos com dislexia e 15 controles pareados por idade e por sexo. Foram avaliadas habilidades cognitivas tais como: eficiência intelectual, funções de atenção, habilidade visuoconstrutivas e habilidades de linguagem oral e escrita. A morfometria cerebral foi baseada em sequência T1 volumétrica de ressonância magnética e segmentação automática com medida da espessura e volume utilizando o pacote de software FreeSurfer. Na avaliação neuropsicológica, as habilidades que se mostraram mais prejudicadas foram aspectos da memória e da linguagem oral e escrita, tais como rebaixamento de span de memória operacional fonológica e dificuldade de fluência verbal, de associação e integração de ideias, de definição/conceitos, de nomeação e principalmente de consciência fonológica, de leitura e de escrita. As análises de neuroimagem sugerem alterações estruturais no cérebro do grupo clínico com redução no volume de substância cinzenta em regiões corticais, tais como lobo temporal inferior esquerdo e lobo temporal médio direito, e redução no volume de substância branca de ambos os hemisférios. Não foram identificadas alterações significativas na espessura. As alterações estruturais observadas através das técnicas de imagem podem estar relacionadas às funções cognitivas que se mostraram afetadas. / Dyslexia is a specific reading disorder that consists of a performance in reading and writing lower than expected for chronological age, educational level and for the level of intelligence, with an adequate intellectual efficiency (IQ 80 ). The main commitments involve abilities of language skills as difficulty in phonological awareness, phonological memory, discrimination and naming. Studies show link between difficulties in reading and writing and neurobiological factors. The objective of this project was to investigate whether differences in brain morphometry using automatic segmentation for the analysis of thickness and volume differences between cognitive performance on neuropsychological tests of the group of individuals with dyslexia compared with a control group. This is a prospective study in which 30 children participated, with 15 individuals with dyslexia and 15 controls matched by age and sex. Cognitive skills were evaluated as such: Intellectual efficiency, attention skill, visuo- constructive abilities and skills of oral and written language. Brain morphometry was based on sequence T1 volumetric MRI automatic segmentation and measurement of the thickness and volume using FreeSurfer software package. Neuropsychological skills that were more impaired were aspects of memory and oral and written language, such as flattening of phonological working memory span and difficulty in verbal fluency, association and integration of ideas, definitions / concepts, appointment and especially phonological awareness, reading and writing. Neuroimaging studies suggest structural changes in the brain with clinical group reduction in gray matter volume in cortical regions such as the left inferior temporal lobe and right middle temporal lobe, and a reduction in the volume of white matter of both hemispheres. No significant changes were identified in thickness. Structural changes observed through imaging techniques may be related to cognitive functions that have proven affected.

Orientador: Monica Sanches Yassuda / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas / Made available in DSpace on 2018-08-12T04:01:55Z (GMT). No. of bitstreams: 1 Aprahamian_Ivan_M.pdf: 2297167 bytes, checksum: 09e06865f4593ca514927b6569c04485 (MD5) Previous issue date: 2008 / Resumo: O Teste do Desenho do Relógio (TDR) é o segundo teste mais utilizado no mundo para o rastreio das demências. Contudo, há ainda dúvida sobre seu papel no processo diagnóstico da demência em termos de sensibilidade, especificidade, forma de aplicação e análise. OBJETIVOS: avaliar o desempenho do TDR no processo diagnóstico de uma amostra de idosos brasileiros portadores e não portadores da doença de Alzheimer (DA). Avaliar a sensibilidade (S) e a especificidade (E) do TDR, segundo as escalas de Shulman, Mendez e Sunderland, com as do Mini-Exame do Estado Mental (MEEM) e do Cambridge Cognitive Examination (CAMCOG), a bateria neuropsicométrica do Cambridge Examination for Mental Disorder of the Elderly (CAMDEX). METODOLOGIA: Estudo retrospectivo no qual foram analisados prontuários de pacientes idosos, 121 com DA e 99 controles normais, submetidos ao CAMDEX entre os anos de 2002 e 2007 dentro do Instituto de Geriatria e Gerontologia de Jundiaí seguindo protocolo padronizado. Todos os pacientes avaliados neste estudo passaram por avaliação médica detalhada anterior à realização do CAMDEX, incluindo exames laboratoriais e de neuroimagem. O CAMDEX apresenta duração média de duas horas, incluindo o CAMCOG, a bateria neuropsicométrica, que possui o MEEM e o TDR em sua avaliação. O TDR foi analisado separadamente utilizando-se três escalas comumente utilizadas na literatura (Shulman, Mendez e Sunderland). Os resultados do TDR foram comparados com os do CAMCOG e do MEEM. RESULTADOS: Encontrou-se correlação significativa entre os resultados do TDR com os do MEEM (0,700 - 0,730; p < 0,001) e do CAMCOG (0,753 - 0,779; p < 0,001). As três escalas de TDR utilizadas apresentam resultados semelhantes, sendo a melhor a escala de Shulman (S = 74,2 - 84,8%; E = 66,7 - 89,9%). A utilização conjunta do TDR com o MEEM melhora a sensibilidade e especificidade no rastreio cognitivo dos pacientes (S = 89,2 - 90%; E = 71,7 - 79,8%). Houve aumento da S e E do TDR com a baixa escolaridade. CONCLUSÃO: O TDR é um bom teste de rastreio quando comparado com o MEEM e o CAMCOG, independente da escala de interpretação utilizada. A combinação do TDR com o MEEM melhora seu rendimento. A influência da escolaridade merece estudo posterior. / Abstract: The Clock Drawing test (CDT) is the second most used test in the world for the screening of dementia. Although, there is still doubt over its paper in the diagnostic process of dementia in terms of sensitivity, specificity, application and interpretation. OBJECTIVES: evaluate the performance of the CDT in diagnostic process of a Brazilian elderly sample with and without Alzheimer's disease (AD). Evaluate the sensitivity (SE) and specificity (SP) of CDT, according to Shulman, Mendez and Sunderland, with the Mini-Mental State Examination (MMSE) and the Cambridge Cognitive Examination (CAMCOG), the neuropsychiatric battery of the Cambridge Examination for Mental Disorder of the Elderly (CAMDEX). METHODS: Retrospective study of 121 AD and 99 elderly controls medical charts that were submitted to the CAMDEX following a standardized protocol between 2002 and 2007 at the Jundiai's Geriatric and Gerontology Institute. All subjects were clinically evaluated and submitted to laboratory and neuroimaging studies. The CAMDEX has a mean time of two hours, including the CAMCOG, a neuropsychiatric battery that has the MMSE and the CDT in its evaluation. The CDT were analyzed separately using three common scales ((Shulman, Mendez and Sunderland). The results of the CDT were compared with the CAMCOG and the MMSE. RESULTS: There were significant correlation between the results of the CDT and the MMSE (0,700 - 0,730; p < 0,001) and between the CDT and the CAMCOG (0,753 - 0,779; p < 0,001). The three CDT scales showed similar results, but the Shulman's scales was slightly better (SE = 74,2 - 84,8%; SP = 66,7 - 89,9%). The combination between the CDT and the MMSE improved sensitivity and specificity in the cognitive screening of the subjects (SE = 89,2 - 90%; SP = 71,7 - 79,8%). There was improvement of sensitivity and specificity in patients with low level of formal education. CONCLUSION: The CDT is a good screening test when compared with the MMSE or the CAMCOG, independently of the scale used for its interpretation. The combination with the MMSE improves its performance significantly. The influence of education in the CDT deserves further studies. / Mestrado / Mestre em Gerontologia

Orientadores: Maria Augusta Santos Montenegro, Catarina Abraão Guimarães / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas / Made available in DSpace on 2018-08-23T02:13:36Z (GMT). No. of bitstreams: 1 Dutra_ViviandeFreitas_M.pdf: 934165 bytes, checksum: 8b4ab28e6d611333899e520d12584954 (MD5) Previous issue date: 2013 / Resumo: A fenilcetonúria é um erro inato do metabolismo, com incidência entre 1:10000 e 1:15000 nascidos vivos. Trata-se de uma doença de herança autossômica recessiva, caracterizada pela deficiência da enzima hepática fenilalanina hidroxilase ou de seu co-fator tetraidrobiopterina, que, na rota metabólica normal, são responsáveis por converter a fenilalanina em tirosina. O acúmulo de fenilalanina é tóxico ao Sistema Nervoso Central. O défict nos níveis de tirosina leva ao desequilíbrio metabólico que pode causar hipotonia, irritabilidade, letargia, tonturas, microcefalia, características autistas, défict cognitivo e atraso de desenvolvimento. O tratamento é baseado na dieta restrita em fenilalanina. Quando a dieta é iniciada precocemente, o prognóstico cognitivo é bom e os pacientes apresentam QI dentro da média. Embora não haja rebaixamento de QI, alguns estudos mostram que os resultados de avaliação neuropsicológica dos pacientes são piores do que irmãos e pares sem a doença, especialmente com relação a funções executivas. O objetivo deste trabalho foi avaliar e comparar o desempenho de crianças e adolescentes com fenilcetonúria tratados em um Serviço de Referência no Brasil em provas neuropsicológicas de memória e funções executivas, e comparar com aquele apresentado por pares sem a doença. Participaram do estudo 12 crianças e adolescentes com fenilcetonúria leve, oito com hiperfenilalaninemia permanentemente e uma com fenilcetonúria clássica. A idade do grupo caso índice variou entre seis e 15 anos (m=9,52±2,82). O grupo controle foi formado por 21 crianças e adolescentes com idade entre seis e 14 anos (m=9,19±2,84), recrutados em uma escola de rede municipal. Como instrumento para a avaliação neuropsicológica foi utilizada a Escala de Inteligência Wechsler para crianças (WISC-III, 2002) e uma bateria para avaliação de funções executivas, incluindo o Teste de Trilhas, Teste de aprendizagem verbal de Rey, Teste de aprendizagem visual de Rey, teste de fluência verbal FAS e categoria "animais", teste de Stroop e Torre de Hanói. Os dados foram armazenados e analisados com programa estatístico SPSS - Statistic Package for Social Sciences, versão 13.5, considerando o nível de significância de 5%. Não foram encontradas diferenças significativas entre o desempenho do grupo de pacientes e o grupo controle, para nenhum dos achados neuropsicológicos. Apenas uma criança neste estudo apresentou diagnóstico de PKU clássica, a forma da doença com pior prognostico cognitivo. A média de idade de diagnóstico dos participantes foi de 35 dias e 75% dos participantes apresentaram resultados de exame de PHE<8,0 no ano anterior à avaliação neuropsicológica. Os achados concordam com a literatura que indica a importância do tratamento para garantir um bom desenvolvimento cognitivo. Futuros estudos podem avaliar também funções não executivas, e estudos colaborativos entre diferentes centros de tratamento podem fornecer uma amostra mais significativa da população estudada / Abstract: Phenylketonuria is an autossomal recessive metabolic disease caused by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase which makes it nonfunctional. It is one of the most common inborn errors of metabolism, with an incidence of 1:10000 to 1:15000 live births. Accumulation of PHE is toxic to the central nervous system. Low levels of tyrosine add to the metabolic abnormality and patients may present hypotonia, irritability, lethargy, dizziness, microcephaly, autistic features, cognitive impairment and developmental delay. The standard treatment is based on a lifelong diet with low levels of phenylalanine. When PKU restricted diet is started early in life, the cognitive outcome is excellent, and patients have normal IQ. Although there is no cognitive impairment, some studies showed that their neuropsychological scores might be lower than the ones of their peers and siblings, especially regarding executive functions. The objective of this study was to evaluate the neuropsychological performance of children and adolescents with the different types of hyperphenylalaninemia treated at a tertiary center in Brazil and compare with a control group with similar age and socioeconomic level. 12 children and teenagers with mild PKU, eight with HPA and one with classic PKU were evaluated. Age ranged between six and 15 years (m=9,52±2,82). Control group were formed by 21 non-pku children and teenagers with ages between six and 14 years (m=9,19±2,84), recruited in a public school. Neuropsychological evaluation was performed using the Wechsler Inteligence Scale for Children-III (WISC-III, Stroop Test, Rey Auditive Verbal Learning Test (RAVLT), Rey Visual Design Learning Test (RVDLT),Trail Making Test (TMT), Verbal Fluency Test (categorie: animals and letters F,A,S) and Hanoi Tower. This study was approved by the Ethical Committee of our institution. Statistical analysis was performed using the Statistical Package for Social Sciences for Personal Computer (SPSS/PC), Version 13.5; with a level of significance of 0.05. There was no difference regarding the neuropsychological findings between both the hyperphenylalaninemia and mild phenylketonuria groups and control group. One children in this study had classic PKU. Mean diagnostic age was 35 days and 75% of participant's present PHE concentrations < 8,0 mg/dl. These findings are in concordance to literature that indicates the importance of dietetic treatment for an adequate cognitive outcome. Further research could also evaluate non-executive functions and collaborative studies between different centers could provide a larger sample size / Mestrado / Ciencias Biomedicas / Mestra em Ciências Médicas

M.Sc. (Research Psychology) / Please refer to full text to view abstract

M.A. / Certain topics almost have an interdicted status surrounding them. Avoidance of the unknown is a common reaction displayed by people especially when it involves a condition that strips another of normality. One such topic is brain damage. This study was undertaken to provide an alternative method of viewing a condition that is known to affect many individuals. Brain damage may be acquired by anyone at any point in time as a result of the forces of nature, such as illnesses or intervention of mankind, such as motor vehicle accidents. It seems more valuable to research the issue and provide some resolve, than to ignore or avoid it. To ensure that a well-founded study was accomplished one dimension of daily living affected by head injuries, was focused upon. Re-employability of labourers following mild to moderate brain damage was the area selected for this study. To achieve this objective, a psychometric battery which assesses the capabilities of an unskilled or semiskilled labourer with brain damage, has been designed. In order to assess the validity of the battery, it was administered to two groups of individuals. The first group constituted 25 brain-damaged labourers and the second group consisted of 100 normal labourers. By comparing the performance of the two groups, it became possible to determine whether the battery was feasible as an instrument of skill disparity. The data accumulated by the study showed that the battery does have the capability of distinguishing between the groups. A significant result of this study is that there now appears to be a method of differentiating between the jobrelated skills retained by brain-damaged labourers as opposed to normal labourers. This infers that the instrument has the capacity to assess how close to normal the skill competencies of injured persons are. In this setting this invariably implies an evaluation of the reemployability status of a person. Brain-damaged individuals are thereby given some recourse to determine their future work prospects and are provided with some clarity on one dimension of their functioning.

The issue of effortful patient performance has been an area of clinical interest in individuals with minor traumatic brain injury (mTBI). Clinical attention to this area has increased largely because of an increase in the number of worker's compensation claims, injury-related lawsuits and/or insanity defense pleas. As patients are presented with the opportunity for secondary gain, the issue of optimum performance on neuropsychological measures becomes salient. In addition to neurocognitive deficits, there are psychological characteristics associated with mTBI including depression, emotional disturbance, personality changes, and other psychopathology. This study utilized the MSVT, a set of standard neuropsychological instruments, and the Minnesota Multiphasic Inventory-2 (MMPI-2) to investigate the relationships between effort, psychological characteristics, and neuropsychological functioning in individuals with minor traumatic brain injuries. The first objective of this study was to determine which psychological factors were related to effort in mTBI. The second objective was to determine if there were differences between groups that performed poorly on effort testing and groups that performed adequately on effort testing, based on relevant psychological characteristics. The results of the analyses supported the first hypothesis. Hysteria was inversely related to effort, and Mania was positively related to effort on one of five measures of effort. The second hypothesis was not supported.

Controversy surrounds the idea that bilingualism leads to enhanced executive function (EF) and brain volume changes, potentially leading to delays in cognitive decline and dementia onset. The purpose of this research was to explore these claims in a sample of elderly monolinguals and bilinguals. This study explored gray matter volume (GMV) in 214 monolinguals and bilinguals (Mage = 71.21, SD = 7.53) who were cognitively normal (CN) or diagnosed with Mild Cognitive Impairment (MCI) or dementia. Neuropsychological performance was also examined between CN and MCI monolinguals and bilinguals (N = 153) across two visits. Scores from the Digit Span Backwards, Stroop interference, Trail Making Test A minus Trail Making Test B, and category fluency average scores were used. Magnetic Resonance Imaging (MRI) brain regions associated with memory, language, and EF were selected. Additionally, the study examined how a Bilingualism Index (BI) and the age of acquisition of English could predict GMV and EF in Spanish/English bilinguals whose native language was Spanish. Lastly, the initial age of cognitive decline across language groups was compared. Results suggested higher GMV in language and EF regions in bilinguals, but differences were not found in memory regions. Furthermore, neuropsychological performance over time did not vary across language groups; however, bilinguals exhibited reduced Stroop interference as well as lower scores on Digit Span Backwards and category fluency. The age of acquisition of English did not predict GMV or EF scores, while the BI predicted category fluency, with lower scores associated with a higher degree of balanced bilingualism. Overall, the influence of bilingualism appears to be reflected in increased GMV in specific language and EF regions relative to neuropsychological performance. / Includes bibliography. / Dissertation (Ph.D.)--Florida Atlantic University, 2020. / FAU Electronic Theses and Dissertations Collection

Includes bibliography. / This study provides a provisional normative range of performance for the South African semi- and unskilled black and coloured population groups on the Trail Making Test. One hundred and six black and coloured semi- and unskilled workers from the Groote Schuur Hospital in Cape Town, satisfying the criteria of 8 years or less of formal education, with no neurological impairment or psychopathology, and some degree of literacy, were randomly selected. Parts A and B of the Trail Making Test were then administered and scored, and the scores reported in tabular form, broken up in terms of race, age and education. A statistical analysis (multiple linear regression) was applied to the data and additional information on the effects of age, education and sex on test performance briefly discussed in terms of previous research findings. The results of this study add weight to Dugmore's (1987) assertion that existing norms currently in use for the Trail making Test are invalid for these population groups. Limitations of the study and suggestions for further research were also briefly discussed.

京都大学 / 新制・課程博士 / 博士(人間健康科学) / 甲第23129号 / 人健博第91号 / 新制||人健||6(附属図書館) / 京都大学大学院医学研究科人間健康科学系専攻 / (主査)教授 澤本 伸克, 教授 十一 元三, 教授 髙橋 良輔 / 学位規則第4条第1項該当 / Doctor of Human Health Sciences / Kyoto University / DFAM

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