Clinical Neurophysiology in Pediatric Neurometabolic Disorders

Various disorders result from genetically determined abnormalities of enzymes, the metabolic consequences of which affect the development or functioning of the nervous system. The range of metabolic disturbances is wide, as is the resultant range of clinical syndromes. Although most occur in children, some can present in adult life, and increasing numbers of affected children survive into adult life. In some, The last 20 years has seen a considerable expansion in our understanding of the genetic and metabolic basis for many neurological conditions. Particular clinical presentations of neurometabolic disorders include ataxias, movement disorders, childhood epilepsies, or peripheral neuropathy. Although individual metabolic disorders are rare, collectively such disorders are relatively common.Clinical neurophysiology has an important role in studying these disorders. Although the technics have a low specificity, but it has a high sensitivity. In other words, clinical neurophysiologic studies are good means to determine the severity of disorders as well as follow-up. In my talk, I will address to the issue in detail and will share my experience in the field.