RESUMO
Autism spectrum disorder (ASD) describes a set of neurodevelopmental disorders. Despite extensive ASD research lasting more than 60 years, its causes are still unknown. Without indicating the etiology, its development cannot be stopped. Over the years, both the definition and diagnostic criteria have developed. The number of ASD incidence is rising. The economical aspect should also be highlighted. This disorder presents particular challenges to affected children, their parents and physicians. The research of ASD, physician activities, policy making and raising the level of awareness must be coordinated. Special attention should be paid to the problem among adults with ASD.
Assuntos
Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/terapia , Efeitos Psicossociais da Doença , Política de Saúde/tendências , Necessidades e Demandas de Serviços de Saúde/tendências , Adolescente , Transtorno do Espectro Autista/economia , Criança , Pré-Escolar , Feminino , Política de Saúde/economia , Necessidades e Demandas de Serviços de Saúde/economia , Humanos , Incidência , Masculino , PaisRESUMO
There is a need to identify metabolic phenotypes in autism as they might each require unique approaches to prevention. Biological markers can help define autism subtypes and reveal potential therapeutic targets. The aim of the study was to identify alterations of small molecular weight compounds and to find potential biomarkers. Gas chromatography/mass spectrometry was employed to evaluate major metabolic changes in low molecular weight urine metabolites of 14 children with autism spectrum disorders vs. 10 non-autistic subjects. The results prove the usefulness of an identified set of 21 endogenous compounds (including 14 organic acids), whose levels are changed in diseased children. Gas chromatography/mass spectrometry method combined with multivariate statistical analysis techniques provide an efficient way of depicting metabolic perturbations of diseases, and may potentially be applicable as a novel strategy for the noninvasive diagnosis and treatment of autism.
Assuntos
Aminoácidos/urina , Transtorno Autístico/urina , Ácidos Carboxílicos/urina , Cromatografia Gasosa-Espectrometria de Massas/métodos , Biomarcadores/urina , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Análise de Componente Principal , Álcoois Açúcares/urinaRESUMO
Chromatographic methods find application in the diagnostics and prognosis of diseases. They are used in finding new biomarkers, which may result in early medical intervention. Early diagnosis and intervention are especially important in the case of diseases of unknown etiology. One of these is autism. Autism is a neurodevelopmental disorder characterized by severe impairment in reciprocal social interaction and communication and a pattern of repetitive or stereotyped behavior. Organic acids are intermediate metabolites of all major groups of organic cellular components and can play a role in the pathogenesis of autism. This review presents information about abnormal levels of some organic acids observed in the urine of children with autism and determination of acids with the use of chromatographic techniques. 342 literature sources on frequency (2005-2012) of the use of chromatographic methods in the determination of organic compounds in various body fluids were searched.
Assuntos
Ácidos/sangue , Ácidos/urina , Transtorno Autístico/sangue , Transtorno Autístico/urina , Cromatografia Líquida/métodos , Espectrometria de Massas/métodos , Animais , Biomarcadores/sangue , Biomarcadores/urina , Humanos , Compostos Orgânicos/sangue , Compostos Orgânicos/urinaRESUMO
Homocysteine is an amino acid, which plays several important roles in human physiology. A wide range of disorders, including neuropsychiatric disorders and autism, are associated with increased homocysteine levels in biological fluids. Various B vitamins: B6 (pyridoxine), B12 (cobalamin), and B9 (folic acid) are required as co-factors by the enzymes involved in homocysteine metabolism. Therefore, monitoring of homocysteine levels in body fluids of autistic children can provide information on genetic and physiological diseases, improper lifestyle (including dietary habits), as well as a variety of pathological conditions. This review presents information on homocysteine metabolism, determination of homocysteine in biological fluids, and shows abnormalities in the levels of homocysteine in the body fluids of autistic children.
Assuntos
Transtorno Autístico/metabolismo , Homocisteína/metabolismo , Animais , Transtorno Autístico/etiologia , Deficiência de Vitaminas/complicações , Líquidos Corporais/química , Cistationina beta-Sintase/genética , Dieta , Suplementos Nutricionais , Feminino , Ácido Fólico/metabolismo , Homocisteína/biossíntese , Homocisteína/sangue , Humanos , Hiper-Homocisteinemia/fisiopatologia , Lactente , Estilo de Vida , Masculino , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Vitamina B 12/metabolismo , Vitamina B 6/metabolismoRESUMO
Research into biomarkers of autism is a new means of medical intervention in this disease. Chromatographic techniques, especially coupled with mass spectrometry, are widely used in determination of biomarkers and assessment of effectiveness of autism therapy owing to their sensitivity and selectivity. Among the chromatographic techniques gas chromatography and liquid chromatography, especially high-performance liquid chromatography, have found application in clinical trials. The high-performance liquid chromatography technique allows an analysis of liquid samples with a wide range of molecules, small and large, providing an opportunity to perform advanced assays within a short time frame. Gas chromatography with the appropriate preparation of samples (gaseous and liquid) and a selection of analysis conditions enables the separation of thermally stable, volatile and non-volatile organic substances in short runtimes. The chromatographic techniques that are currently used in metabolic studies in autism are designed to identify abnormalities in three areas: the metabolism of neurotransmitters, nutritional and metabolic status and manifestations of oxidative stress. This review presents a necessary theoretical introduction and examples of applications of chromatographic studies of disorder markers in autism.