RESUMO
BACKGROUND: Children with traumatic brain injury (TBI) usually displayed substantial neuropsychological impairment at short and long term after injury. OBJECTIVE: To compare the course of cognitive functioning among children with TBI and healthy controls over the first-year post-injury in Guadalajara, Mexico. METHODS: A sample of 46 children with TBI and 46 healthy controls from Guadalajara, Mexico were recruited. Both groups received a comprehensive neuropsychological evaluation at three-time (3, 6, and 12 months) with measures of memory, attention, executive function, processing speed, language, perceptual reasoning, visuo-spatial abilities, and intellectual functioning. Sixteen hierarchical linear models (HLMs) were performed to examine whether linear trajectories of cognitive functioning differed over time between groups. RESULTS: Trajectories of neuropsychological performance were significantly worse over time among children with TBI than healthy controls across every cognitive domain. HLMs suggested that cognitive performance increased over time in both groups, however, TBI group scored significantly lower at each time point compare to the control group, except in Stroop-Interference. CONCLUSIONS: Cognitive deficits are common during the first-year after pediatric TBI. Thus, it is imperative to implement early rehabilitation programs to mitigate the consequences of these problems in the social, academic, and family reintegration of these children.
Assuntos
Lesões Encefálicas Traumáticas/epidemiologia , Lesões Encefálicas Traumáticas/psicologia , Testes Neuropsicológicos , Recuperação de Função Fisiológica/fisiologia , Atenção/fisiologia , Lesões Encefálicas Traumáticas/diagnóstico , Criança , Pré-Escolar , Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/epidemiologia , Transtornos Cognitivos/psicologia , Função Executiva/fisiologia , Feminino , Humanos , Masculino , Memória/fisiologia , México/epidemiologia , Fatores de TempoRESUMO
INTRODUCTION: Huntington's disease is a dominant autosomic neurodegenerative disorder. This article's objective is to provide an up-to-date description of the clinical and neuropsychological manifestations over the course of the disease. METHOD: According to clinical studies, the main characteristics of Huntington's disease include motor deficits, psychiatric problems and cognitive deficits. Many investigations have shown that a fronto-subcortical circuit dysfunction is responsible for these deficits. As the disease progresses, patients tend to have more cognitive difficulties which include attention/concentration problems, slowed cognitive processing, memory and language deficits, visuo-spatial problems and executive functioning difficulties. CONCLUSION: Studies with asymptomatic carriers of Huntington's disease have shown that cognitive deterioration may begin long before a clinical diagnosis of the disease is possible.
Assuntos
Doença de Huntington/fisiopatologia , Córtex Cerebral/patologia , Córtex Cerebral/fisiopatologia , Transtornos Cognitivos/fisiopatologia , Progressão da Doença , Humanos , Doença de Huntington/diagnóstico , Doença de Huntington/genética , Doença de Huntington/patologia , Transtornos da Linguagem/fisiopatologia , Transtornos da Memória/fisiopatologiaRESUMO
INTRODUCTION: Various neuropsychological studies have been conducted to determine the cognitive functioning of patients with Huntington s disease and their results have shown that the pattern of cognitive decline is thought to be typical of a frontal subcortical dementia. OBJECTIVES: To determine if significant differences exist between the cognitive performances of a group diagnosed with Huntington s disease and a group of healthy, at risk relatives on a series of neuropsychological tests, and to examine the extent to which the Huntington group s cognitive performance profile corresponds to frontal subcortical damage as reported in other studies. PATIENTS AND METHODS: The sample was comprised of a group of 18 subjects with a clinical diagnosis of initial stage Huntington s disease and a group of 15 healthy relatives at risk for Huntington s disease. A battery of tests (the CERAD) and additional neuropsychological tests were administered to all subjects. RESULTS: Compared to the at risk group, the Huntington s disease group scored significantly lower on 85.41% of the tests. CONCLUSIONS: The neuropsychological tests utilized in this study were useful to discriminate between diagnosed and at risk groups. The Huntington s disease group s global neuropsychological profile was similar to that of a frontal subcortical dementia in which the predominant features include executive functioning deficits, memory problems, visuo constructive alterations, attention deficits, verbal fluency problems and naming deficits.
Assuntos
Transtornos Cognitivos/fisiopatologia , Doença de Huntington/fisiopatologia , Testes Neuropsicológicos , Adulto , Transtornos Cognitivos/etiologia , Colômbia , Feminino , Humanos , Doença de Huntington/complicações , Masculino , Pessoa de Meia-Idade , Fatores de RiscoRESUMO
OBJECTIVES: To characterize clinical features of a very large pedigree with early-onset Alzheimer disease (AD) in which all affected individuals carry the identical glutamic acid-to-alanine mutation at codon 280 in the presenilin-1 gene. DESIGN: Clinical histories were obtained by patient and family interviews and through medical or civil records. Using standard diagnostic criteria, a case series of 128 individuals was identified, of which 6 have definitive (autopsy-proven) early-onset AD, 93 have probable early-onset AD, and 29 have possible early-onset AD. SETTING: Community based in Antioquia, Colombia. PATIENTS: A population-based sample in which all members of 5 extended families (nearly 3000 individuals) were surveyed. Criteria for inclusion required obtaining sufficient information to categorize the individual as affected. MAIN OUTCOME MEASURES: Age at onset, neuropsychological profile, neurologic history, and examination. RESULTS: The patients had a mean age at onset of 46.8 years (range, 34-62 years). The average interval until death was 8 years. Headache was noted in affected individuals significantly more frequently than in those not affected. The most frequent presentation was memory loss followed by behavior and personality changes and progressive loss of language ability. In the final stages, gait disturbances, seizures, and myoclonus were frequent. CONCLUSIONS: Other than the early onset, this clinical phenotype is indistinguishable from sporadic AD except that affected individuals frequently complained of headache preceding and during the disease. Despite the uniform genetic basis for the disease, there was significant variability in the age at onset, suggesting an important role for environmental factors or genetic modifiers in determining the age at onset.