Neurogenetics in developmental and behavioral pediatrics: advances in molecular diagnosis

The discovery and characterization of thousands of genes involved in human disorders has the potential for great benefit in patient diagnosis and treatment. A combined approach using molecular genetic testing for some disorders as an adjunct to the clinical evaluation of children with developmental or behavioral features is rapidly occupying a more prominent role in the diagnostic evaluation. In some instances, molecular testing might confirm a genetic etiology in a child initially referred with a DSM-IV diagnosis, but molecular testing might be of limited use in other instances. This review presents advances in the diagnosis of inherited disorders affecting the pediatric population, with an emphasis on those with a developmental/behavioral component. We examine several relatively common disorders in detail (and less common disorders in a more cursory fashion) to elucidate the strengths and weaknesses of molecular diagnosis in clinical practice.