RESUMO
Aicardi syndrome is a rare neurodevelopmental disorder with agenesis of corpus callosum, chorioretinal lacunae, and infantile spasms as the main features. The outcome is in general severe, with poor cognitive development and difficult-to-treat epilepsy. In this study, we assessed the level of cognitive function of five girls with Aicardi syndrome, using normed population based tests and questionnaires. Their cognitive abilities varied from mild to profound intellectual disabilities. The more severe the epilepsy, the poorer were the cognitive skills. To the best of our knowledge, this is the first study that systematically applies validated cognitive assessment tools to study patients with this syndrome. Knowledge about cognitive functioning is crucial for providing optimal special education and finding appropriate alternative communication with parents and caregivers.
Assuntos
Síndrome de Aicardi/complicações , Síndrome de Aicardi/diagnóstico , Transtornos Cognitivos/complicações , Transtornos Cognitivos/diagnóstico , Adolescente , Síndrome de Aicardi/psicologia , Criança , Cognição , Transtornos Cognitivos/psicologia , Epilepsia/complicações , Epilepsia/diagnóstico , Epilepsia/psicologia , Feminino , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/psicologia , Adulto JovemRESUMO
Autism and epilepsy are two associated disorders that are highly prevalent, share common developmental origins, and demonstrate substantial heritability. In this review, cross-disciplinary data in a rapidly evolving field that bridges neurology and psychiatry are synthesized to identify shared biologic mechanisms. The relationship between these debilitating, lifelong conditions is examined at the clinical, genetic, and neurophysiologic levels in humans and in animal models. Scopus and PubMed searches were used to identify relevant literature. Clinical observations have prompted speculation about the interdependence of autism and epilepsy, but causal relationships have proved difficult to determine. Despite their heritability, the genetic basis of autism spectrum disorder (ASD) and epilepsy has remained largely elusive until the advent of next-generation sequencing. This approach has revealed that mutations that are either causal or confer an increased disease risk are found in numerous different genes, any one of which accounts for only a small percentage of cases. Conversely, even cases with identical clinical phenotypes can be genetically heterogeneous. Candidate gene identification has facilitated the development of mouse genetic models, which in parallel with human studies have implicated shared brain regions and circuits that mediate disease expression. Diverse genetic causes of ASD and epilepsy converge on cortical interneuron circuits as one important mediator of both disorders. Cortical interneurons are among the most diverse cell types in the brain and their unique chemical and electrical coupling exert a powerful inhibitory influence on excitatory neurons via the release of the neurotransmitter, γ-aminobutyric acid (GABA). These multifaceted approaches have validated theories derived from the field of developmental neurobiology, which propose that the neurologic and neuropsychiatric manifestations are caused by an altered ratio of excitation to inhibition in the cortex.
Assuntos
Transtorno do Espectro Autista/fisiopatologia , Córtex Cerebral/fisiopatologia , Epilepsia/fisiopatologia , Interneurônios/metabolismo , Síndrome de Aicardi/complicações , Síndrome de Aicardi/genética , Síndrome de Aicardi/fisiopatologia , Síndrome de Aicardi/psicologia , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/genética , Transtorno do Espectro Autista/psicologia , Córtex Cerebral/metabolismo , Criança , Pré-Escolar , Epilepsias Mioclônicas/complicações , Epilepsias Mioclônicas/genética , Epilepsias Mioclônicas/fisiopatologia , Epilepsias Mioclônicas/psicologia , Epilepsia/complicações , Epilepsia/genética , Epilepsia/psicologia , Humanos , Lactente , Síndrome de Landau-Kleffner/complicações , Síndrome de Landau-Kleffner/genética , Síndrome de Landau-Kleffner/fisiopatologia , Síndrome de Landau-Kleffner/psicologia , Síndrome de Lennox-Gastaut/complicações , Síndrome de Lennox-Gastaut/genética , Síndrome de Lennox-Gastaut/fisiopatologia , Síndrome de Lennox-Gastaut/psicologia , Inibição Neural , Neurônios/metabolismo , Espasmos Infantis/complicações , Espasmos Infantis/genética , Espasmos Infantis/fisiopatologia , Espasmos Infantis/psicologia , Ácido gama-Aminobutírico/metabolismoRESUMO
Agenesis of the corpus callosum is associated with a wide range of neuropsychiatric symptoms. Cranial MRI confirms the diagnosis. We report a case of a 13-year-old boy with global developmental delay, mental retardation as well as neurological and psychiatric symptoms but without symptoms of ADHD who is unable to cope with school demands. Agenesis of the corpus callosum is a relatively rare, but possibly underestimated differential diagnosis of unclear retardations in development in children or suspicion of ADHD respectively.