Deficits in visual processing are early cognitive abnormalities in patients with Huntington's disease (HD) and may be found in presymptomatic gene carriers. We investigated the nature and evolution of deficits in visual processing in HD, and whether subtle deficits could be recognized by formal testing in asymptomatic carriers. We studied 35 patients with HD in stages 1-3 of functional disability, and 26 symptom-free relatives at 50% risk for the disease. We administered the Mini Mental State Examination to assess overall cognitive function and tests to assess visuospatial skills such as visual attention and ocular scanning (Cancellation Task and Line Bisection Test), visuoconstructive abilities (Copy of Rey's Complex Figure), and visuoperception (Hooper Visual Organization Test). The group at risk comprised 15 asymptomatic carriers (AC) and 11 non-carriers (NC) and was assessed by investigators blinded to gene status. HD patients were impaired in most of the tasks compared with AC and NC, and the scores declined steadily from stage 1 to 3. However, the difference between patients in stage 1 of HD and AC and NC in most of the tasks was not significant. Only the Hooper Test, which requires complex visual integration, was highly discriminative of early symptomatic from asymptomatic carriers (P < 0.05). There were no significant differences between AC and NC in any of the tasks. We conclude deficits in visual processing develop with other manifestations of the disease and are not significant on formal testing at presymptomatic stages; also, early visual deficits in HD seem to be related to disorders in complex visual processing.

As possibilidades advindas da ampliação dos recursos tecnológicos tem contribuído para a reconfiguração dos sistemas de informação e das formas de representação e acessos aos recursos informacionais. Com a descrição arquivística a conformação tem ocorrido, além dos mecanismos computacionais e de aplicações de softwares, com a proposição do modelo conceitual internacional de descrição arquivística, identificado como Records in Contexts (RiC). Assim, o questionamento central desta pesquisa centra-se em compreender qual o cenário da literatura científica sobre a descrição arquivística, o modelo conceitual internacional de descrição arquivística, identificado como Records in Contextx (RiC), proposto pelo International Council on Archives (ICA), e o software de aplicação de descrição arquivística, denominado AtoM, cujo desenvolvimento inicial também se deu pelo ICA. A pesquisa, com abordagem qualitativa, faz uso, também da abordagem quantitativa, haja vista a necessidade de se identificar quais são os destaques nos resultados da pesquisa. De natureza aplicada busca objetivos exploratórios e faz uso da pesquisa bibliográfica e documental para o alcance dos resultados. Para a análise dos dados coletados fez-se uso de gráficos, tabelas, nuvens de tags e de conteúdo.

No abstract

Huntington's disease (HD) is characterized by the presence of movement disorders, cognitive decline and psychiatric disturbances. Recently, the gene responsible for HD has been found. As a result, a more direct test for HD is available. This may lead to a comprehensive approach to HD, since it is now possible to study HD patients without uncertainties in diagnosis. We carried out a clinical-genetic study on 45 patients with HD. We performed molecular analysis on 39 patients. All had an abnormal expansion of (CAG)n ranging from 41 to 90 triplets (mean 50.8 ± 11.5 S.D.). There was a strong inverse correlation between (CAG)n expansion and age at onset Gender of the affected parent influenced age at onset (p < 0.001) and number of triplets (p < 0.001). A significant impairment of akinesia (p < 0.001), chorea (p < 0.005), MMSE (p < 0.01) and Rey scores (p < 0.05) occurred across successive stages of functional disability. Hooper Visual Organization Test (HVOT) scores did not change significantly across stages, but this test was extremely useful to discriminate between patients at an early stage and controls. A significant correlation was found between functional disability and motor-cognitive decline; correlation was stronger for motor (akinesia, r = 0.77; chorea, r = 0.61) than for cognitive aspects (MMSE, r = - 0.54; Rey, r = - 0.51; HVOT, r = -0.35).