Rev Neurol France
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Malformations of cortical development (MCD) represent a major cause of developmental disabilities and severe epilepsy. Advances in imaging and genetics have improved the diagnosis and classification of these conditions. Up to now, eight genes have been involved in different types of MCD. ⋯ Filamin A (FLNA) mutations have been reported in some families and in sporadic patients. It is possible to infer the most likely causative gene by brain imaging studies and other clinical findings. Based on this experience, a detailed phenotype analysis is needed to develop the most efficient research on MCD in the future.
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Executive functioning deficits have often been described in normal aging. They are also known to be a frequent sequel of traumatic brain injury, where patients may exhibit severe long-standing impairments in instrumental activities of daily living. One could therefore expect that cerebral lesions affecting executive functioning would result in more severe impairments in older patients. We previously developed an ecological assessment of executive functions, consisting of a cooking task, requiring multitasking abilities and known to be sensitive to a dysexecutive syndrome [Cortex 36 (2000) 649-669]. The aim of this study was to analyze the effect of age on the cognitive and ecological assessments of executive functions in a group of patients with acquired brain injury (ABI) resulting in a dysexecutive syndrome. Studies in this area usually focus on patients older than 60 or 65, but we chose to analyze the effect of age in a younger population. We hypothesized that older patients would have poorer performances on the cognitive and ecological tests of executive functioning, when compared to younger patients. ⋯ Our study demonstrates the deleterious effect of aging on cognitive and ecological assessment of executive functioning after ABI. The strength of this study is that it deviated from the traditional age considered in studies of elderly populations and focused on younger patients. It is therefore important to consider the implication that this may have on a patient's rehabilitation program and postinjury discharge.