RESUMO
BACKGROUND: Huntington's disease (HD) is a hereditary disease of the central nervous system. Its molecular diagnosis has allowed predictive and prenatal diagnosis to be done, and it is now a model for the study of the ethical, legal, and social problems arising from the diagnosis of such diseases. METHODS: This study explores the knowledge and attitudes of a group of Mexican specialists regarding the disease and its diagnosis. A self-administered, 30-item multiple-choice questionnaire was completed anonymously by neurologists, psychiatrists, and psychologists. RESULTS: Fifty-five percent of the professionals had experience with HD patients, 59% claimed to know the hereditary risks, and 20% answered incorrectly concerning the risks. Neurologists had the most exposure to HD; 74% acknowledged the existence of predictive diagnosis, although only 10% knew the international guidelines for testing. Eighty-six percent of the participants recommended predictive diagnosis, the reasons being: 55%, if the patients considered having offspring; 41%, for the patient's professional reasons; 6%, if a treatment was available, and 12% did not answer. In cases in which the patient wanted to have offspring, 38% thought that this should be avoided. Thirty-six percent of the subjects considered prenatal diagnosis justified in a couple with a carrier, and 51% justified abortion for affected fetuses. CONCLUSIONS: Genetic counseling and predictive diagnosis in Mexico must be the responsibility of genetics units and specialists who are aware of inheritance risks and of guidelines for HD programs. The number of patients requiring such attention is increasing rapidly.
Assuntos
Atitude do Pessoal de Saúde , Doença de Huntington/diagnóstico , Diagnóstico Pré-Natal , Adulto , Idoso , Feminino , Aconselhamento Genético , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Doença de Huntington/psicologia , Masculino , México , Pessoa de Meia-Idade , Neurologia , Valor Preditivo dos Testes , Psiquiatria , Psicologia , Inquéritos e QuestionáriosRESUMO
The range of neuropsychiatric symptoms in multiple sclerosis (MS) has not been prospectively assessed. The authors, working at a tertiary medical center in Mexico City, used the Neuropsychiatric Inventory (NPI) to evaluate neuropsychiatric symptoms prospectively in 44 MS patients who were stable between relapses and 25 control subjects of similar age, education, and cognitive function. Neuropsychiatric symptoms were present in 95% of patients and 16% of control subjects. Changes present were depressive symptoms (79%), agitation (40%), anxiety (37%), irritability (35%), apathy (20%), euphoria (13%), disinhibition (13%), hallucinations (10%), aberrant motor behavior (9%), and delusions (7%). The only relationships with MRI were between euphoria and hallucinations and moderately severe MRI abnormalities. The authors conclude that diverse types of neuropsychiatric symptoms are common in MS; symptoms are present between exacerbations; and there are variable correlations with MRI abnormalities.
Assuntos
Sintomas Comportamentais/etiologia , Esclerose Múltipla/complicações , Adolescente , Adulto , Sintomas Afetivos/complicações , Estudos de Casos e Controles , Intervalos de Confiança , Feminino , Lobo Frontal/patologia , Lobo Frontal/fisiopatologia , Alucinações/etiologia , Alucinações/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/patologia , Esclerose Múltipla/fisiopatologia , Estudos Prospectivos , Escalas de Graduação Psiquiátrica , Índice de Gravidade de Doença , Estatísticas não Paramétricas , Lobo Temporal/patologia , Lobo Temporal/fisiopatologiaRESUMO
Subjects from four Mexican families at risk of inheriting Alzheimer's disease (AD) were studied using a complete neuropsychological battery. These tests were repeated and compared 1 year later. Some of the experimental subjects belong to an international protocol on molecular chromosomal study. A control group matched in age and schooling was included. The subjects at risk underwent a complete physical, neurological and neuropsychological assessment. A neuropsychological battery of cognitive domains designed for the the study of dementia syndromes was administered to all subjects. Six of the subjects showed abnormal performance in cognitive functions, memory, visuospatial functions or language which persisted 1 year later. The present work describes the initial findings of a long-term prospective study aimed at delineating the neuropsychological profile of subjects at risk and to validate subtle abnormalities which in some cases could be the incipient changes of AD.
Assuntos
Doença de Alzheimer/genética , Doença de Alzheimer/psicologia , Cognição , Testes Neuropsicológicos , Adulto , Doença de Alzheimer/epidemiologia , Atenção , Depressão , Feminino , Humanos , Idioma , Masculino , Memória , México , Pessoa de Meia-Idade , Linhagem , Valores de Referência , Fatores de Risco , Percepção EspacialRESUMO
Fifty-eight, at-risk subjects were studied. 81% of the group wished to know whether they had inherited Huntington's disease, even though only 79% would undergo testing. The subjects reported a favorable attitude toward a probable positive result in 81% of cases. Nevertheless, 52% reported they would become depressed, and a small group referred suicidal ideation as response to a probable positive result. Regarding genetic counseling, 59% reported that an at-risk person should not have children, although this increased to 82% if the person knew with certainty that they would develop the disease. Prenatal testing was favored in 74%, and less than half would be willing to have an abortion. Genetic counseling must be insisted upon, the selection of at-risk subjects must be carefully made, and the characteristics of the Mexican population must be taken into account.
Assuntos
Atitude Frente a Saúde , Doença de Huntington/diagnóstico , Doença de Huntington/genética , Adulto , Saúde da Família , Feminino , Humanos , Masculino , Valor Preditivo dos Testes , Fatores de RiscoRESUMO
Research on aging processes have involved the study of evoked potentials. The last decades have witnessed increases in the study of the relationship between event related potentials and the brain's information processes. P300 has been widely studied to assess the neurophysiologic bases that underlie changes which take place during normal and physiologic aging settings. This study was aimed to establish normative data on the P300 component (latency and amplitude) in a Mexican population. One hundred and six (106) neurologically intact subjects, with ages ranging from 20 to 100 years were divided into seven groups. An electrophysiologic assessment using the classical paradigm to generate P300 was used. Monopolar registries referring to the auricular lobules and short circuiting in the Fz, Cz y Pz derivations while monitoring eye movements were used. ANOVA was used for analyzing the effects of age in the latency and the amplitude of both the N100 and P300 components for each one of the derivations. This analysis revealed statistically significant differences (p < 0.05) among the seven groups. The linear regression analysis showed an increase for each aging year in the 0.38 ms latency (r = 0.3804, p < 0.001) and a decrease in the 0.20 mV amplitude (r = 0.2036, p < 0.03). The normative data of the P300 component in the Mexican population studied yielded an objective reference for differential diagnosis and early detection of dementia disorders in patients belonging to a normal aging population.