RESUMO
El trastorno por déficit de atención e hiperactividad es una de las condiciones neuropsiquiátricas más frecuentes en la infancia y adolescencia. Su diagnóstico y tratamiento han sido objeto de interés y también de controversias, tanto en la comunidad científica como en la población general. La evidencia científica actual respalda la formulación de su diagnóstico y tratamiento. También permite comprender mejor su etiología y mecanismos fisiopatológicos. Neurobiológicamente, los factores genéticos parecen altamente determinantes en la gran mayoría de los casos. Sin embargo, existen factores ambientales que influyen en la génesis, expresión y evolución del cuadro. Este artículo plantea la necesidad de realizar diagnósticos y tratamientos integrales que incorporen variables biopsicosociales, con el fin de evitar que niños y adolescentes queden ensombrecidos bajo etiquetas clínicas. Asimismo, busca realizar una revisión de aspectos clínicos y neurobiológicos, refutando con evidencias una serie de conceptos erróneos de amplia divulgación. Tanto el diagnóstico como el tratamiento deben promover en los niños y jóvenes con trastorno por déficit atencional e hiperactividad su mayor potencial de desarrollo.
Attention deficit hyperactivity disorder is one of the most common neuropsychiatric conditions in childhood and adolescence. Its diagnosis and treatment have been of interest and controversy, both in the scientific community and in the general population. Current scientific evidence supports the formulation of the diagnosis and treatment and better understanding of etiology and pathophysiological mechanisms. From a neurobiological perspective, genetic factors seem strongly determinant in most cases, but there are also environmental factors that influence the genesis, expression and clinical evolution. In addition to conducting a review of clinical and neurobiological evidence refuting a series of widely disseminated misconceptions, this article discusses the need of comprehensive diagnosis and treatment, incorporating biopsychosocial variables in order to avoid misconstrued labels that may affect children and adolescents. Both diagnosis and treatment should be at service of promoting the highest potential of ADHD children and youngsters.
Assuntos
Humanos , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/genética , Transtorno do Deficit de Atenção com Hiperatividade/terapia , NeurobiologiaRESUMO
BACKGROUND: Attention deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurobiological disorder of childhood onset, characterized by hyperactivity, impulsiveness, and/or inattentiveness. AIM: To search for possible associations between dopamine receptor D4 (DRD4) and dopamine transponder 1 (DATl) polymorphisms and ADHD in Chilean families. MATERIAL AND METHODS: We extended a previous family-based discordant sib pair analysis that included 26 cases diagnosed according to DSM-IV criteria and 25 controls (healthy siblings of cases), adding 14 cases and 11 controls. RESULTS: Both loci, individually classified as homozygotes or heterozygotes for the DRD4 7-repeat and DATl 10-repeat alleles, did not exhibit genotype frequency differences between affected children and their healthy siblings. However, the simultaneous presence of both DRD4 7-repeat heterozygosity and DATl 10 allele homozygosity was significantly higher (22.5%) in cases (40), compared with (2.8%) unaffected siblings (36), with an odds-ratio of 10.16. CONCLUSIONS: The genotype combination DRD4/7 heterozygotes and DAT1/10 homozygotes is a high risk factors in Chilean families for ADHD. Increased density of dopamine transporters in ADHD brains, along with abundance of 7-repeat D4 receptors in prefrontal cortex, which is impaired in ADHD patients, make the observed gene-gene interaction worthy of studies to understand the functional basis of ADHD.
