What we have learned over the past two decades about the pathophysiology of childhood neuropsychiatrie disorders is astounding. Each of the conditions reviewed is known to have a strong genetic basis, which clearly has helped to track their pathophysiological pathways to illness, particularly in disorders caused by single genes. Continuing elucidation of the pathophysiology of these specific genetic disorders will improve our understanding of the normal biology of neural systems within the developing CNS, and it will provide experimental and disease models by which we can better understand the pathogenesis of genetically more heterogeneous conditions.

The genetic liability underlying each of these conditions seems uniquely to affect particular neural systems in each of the disorders. Mesial temporal lobe structures that subserve socialization functions seem to be especially important in autism; arrest of development of the association cortices caused by the MeCP2 deletion may generate the symptoms of Rett syndrome; the hippocampus and other regions involved in learning and memory are important in fragile X; and disturbances in parietal cortices likely subserve visuospatial deficits affecting children with Williams syndrome. Abnormalities in frontal, temporal, and possibly parietal lobes likely subserve the psychotic symptoms and cognitive disturbances observed in childhood-onset schizophrenia. Disturbances in the structure and function of particular portions of CSTC circuits seem to underlie the symptoms of Tourette syndrome, obsessive-compulsive disorder, and attention deficit hyperactivity disorder; the portions of the circuits affected, together with the genetic relatedness of these conditions, may account for their common clinical co-occurrence.

Future studies will undoubtedly continue to unravel the pathophysiology of these and other childhood neuropsychiatry disorders. They will help us to understand how underlying genetic vulnerabilities contribute to disordered protein expression and abnormal cellular functions in particular neural systems, which then produce particular clinical phenotypes. Defining these pathways to illness will in turn help to define genetic and neurobiological subtypes of these illnesses, similar to the ways in which some specific genetic syndromes have been found to produce autistic symptoms. The most important future advances will likely come from combining genetic analyses, molecular techniques, imaging studies, and careful clinical phenotyping to help refine further our nosological classifications and to improve our understanding of gene-brain-behavior correlates across the many stages of CNS development, in both health and illness.

Funny Wiring Autism

Funny Wiring Autism

Autism is a developmental disorder that manifests itself in early childhood and affects the functioning of the brain, primarily in the areas of social interaction and communication. Children with autism look like other children but do not play or behave like other children. They must struggle daily to cope and connect with the world around them.

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