RESUMO
Resumen El Trastorno del Espectro Autista es una patología de base neurobiológica con alto porcentaje de hereda bilidad y amplia lista de posibles etiologías, que pre senta cambios muy heterogéneos en la arquitectura, conectividad y sinaptogénesis neuronal, con manifes taciones clínicas características, cuyo origen apunta a causas ambientales, inmunológicas, genéticas y otras, sin haberse confirmado biomarcadores específicos. El diagnóstico se sigue basando en características típicas que incluyen conductas repetitivas y comunicación e interacción social deterioradas. Se revisan sus factores de riesgo genéticos y no genéticos para avanzar en el conocimiento sobre los procesos patológicos que pueden relacionarse a su origen.
Abstract The Autism Spectrum Disorder is a neurobiological based disorder with a high percentage of heritability and a wide list of possible etiologies that presents very heterogeneous changes in neuronal architecture, con nectivity and synaptogenesis with characteristic clinical manifestations whose origin points to environmental, immunological, genetic and other causes, without hav ing been confirmed specific biomarkers. Diagnosis con tinues to be based on typical features including repeti tive behaviors and impaired communication and social interaction. Their genetic and non-genetic risk factors are reviewed to advance knowledge about the pathologi cal processes that may be related to their origin.
RESUMO
The Autism Spectrum Disorder is a neurobiological based disorder with a high percentage of heritability and a wide list of possible etiologies that presents very heterogeneous changes in neuronal architecture, connectivity and synaptogenesis with characteristic clinical manifestations whose origin points to environmental, immunological, genetic and other causes, without having been confirmed specific biomarkers. Diagnosis continues to be based on typical features including repetitive behaviors and impaired communication and social interaction. Their genetic and non-genetic risk factors are reviewed to advance knowledge about the pathological processes that may be related to their origin.
El Trastorno del Espectro Autista es una patología de base neurobiológica con alto porcentaje de heredabilidad y amplia lista de posibles etiologías, que presenta cambios muy heterogéneos en la arquitectura, conectividad y sinaptogénesis neuronal, con manifestaciones clínicas características, cuyo origen apunta a causas ambientales, inmunológicas, genéticas y otras, sin haberse confirmado biomarcadores específicos. El diagnóstico se sigue basando en características típicas que incluyen conductas repetitivas y comunicación e interacción social deterioradas. Se revisan sus factores de riesgo genéticos y no genéticos para avanzar en el conocimiento sobre los procesos patológicos que pueden relacionarse a su origen.
Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Humanos , Transtorno Autístico/genética , Transtorno do Espectro Autista/genética , Transtorno do Espectro Autista/diagnóstico , BiomarcadoresRESUMO
In a wide spectrum of cases in childhood, macrocephaly does not carry a neurological risk, although a range of possibilities will have an impact on both the evolutionary and cognitive aspects of children. The previous happens in pathologies with progressive components, such as tumors or hydrocephalus, and in those cases in which the factor of the growth of the cephalic perimeter is given by structural components of the nervous system as it happens in megalocephaly. As in all other medical acts, the careful taking of the anamnesis, the appropriate neurological examination and the valuations of the neurodevelopment items can give a thorough orientation about the etiology and importance of the problem. The help of diagnostic aids as well as images will provide the other data to define the diagnosis and propose a treatment.