RESUMO
BACKGROUND: The role of oxidative stress has been identified in the development of autism spectrum disorder (ASD), and polymorphisms of glutathione S-transferase have been associated with some diseases linked to oxidative stress. Hence, we evaluated the serum levels of oxidative stress markers and investigated genetic polymorphisms of glutathione S-transferase associated with autism. MATERIALS AND METHODS: Forty-two children clinically diagnosed with ASD using the Diagnostic and Statistical Manual for Mental Disorders (DSM-5) criteria and a clinical interview were included in the study. Twenty-three age-matched controls without any known genetic/developmental disorder were also recruited. Oxidative stress markers along with the genetic polymorphisms of glutathione S-transferase were determined. RESULTS: Reduced glutathione in ASD patients was significantly lower than the control (P = 0.008), whereas other oxidative stress markers measured were not significantly different in both the control and case populations. The frequencies of GSTT1 and GSTM1 null genotypes were lower among the controls compared with the cases, however, no association risk was observed. The observed risk of carrying Val/Val genotype among the cases was approximately six times that of the controls. CONCLUSION: Individuals with ASD showed a significant diminished level of reduced glutathione, however, the distribution of GSTT1, GSTM1, and GSTP1 polymorphisms was not found to be associated with autism in this study population.
Assuntos
Transtorno do Espectro Autista/enzimologia , Predisposição Genética para Doença/genética , Glutationa S-Transferase pi/genética , Glutationa Transferase/genética , Estresse Oxidativo/genética , Adolescente , Transtorno do Espectro Autista/sangue , Transtorno do Espectro Autista/genética , Biomarcadores/sangue , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Genótipo , Humanos , Masculino , Nigéria , Estresse Oxidativo/fisiologia , Polimorfismo GenéticoRESUMO
OBJECTIVE: Developmental disorders with or without associated neuropsychiatric complications continue to be one of the major health problems in Africa. The grossly inadequate management/ rehabilitative facilities further worsen this. A prospective study aimed at finding the types of developmental disorders and associated neuropsychiatric complications among children aged =15 years that presented with developmental disorder in the study centers over 36 month study duration. METHODS: The study was carried out in the paediatric and child psychiatric clinics as well as the Electroencephalographic (EEG) unit of two major health facilities in Lagos, Nigeria: Lagos University Teaching Hospital (LUTH) and Psychiatric Hospital, Yaba, Lagos. For each subject, socio-demographic data was obtained and appropriate clinical evaluation was carried out to obtain the necessary data and clinical diagnoses. Furthermore, each of the subjects had waking EEG recording using 20-channel computerized Medelec(R)EEG machine. The EEG interpretation was blinded to the clinical history of the subjects. RESULTS: Overall, one hundred and eleven (111) subjects were evaluated over the 36 month study period. The cohort was made up of 63 (56.8%) males and 48 (43.2%) females. The mean age was 4.8 (+/-3.9) years, with most subjects falling in the age group of 0-5 years(69.4%). Mixed specific developmental disorders were most common (55%) followed by that of specific developmental disorders of speech and language (34.2%). Forty-one (36.9%) subjects suffered from one or more types of complications, with seizure, 22(19.8%) being the most common. The waking EEG recording was normal in 22 (19.8%) subjects; while abnormal epileptiform activities were found in 85 (76.6%) of recordings. No statistically significant relationship existed between EEG abnormalities and the factors of age and clinical diagnoses (i.e developmental abnormalities). CONCLUSION: The small number of subjects in this study is a major hindrance to drawing a general conclusion. However, it has been shown that a number of the cohort in addition to their developmental disorders suffered from such complications as seizures, hyperactivity etc. Furthermore, a significant proportion had EEG abnormalities of the epileptiform types possibly reinforcing the previously known fact of prevalent subtle brain damage among African children. The need for preventive health care is therefore emphasized.