Brain imaging in neurogenetic conditions: Realizing the potential of behavioral neurogenetics research

Behavioral neurogenetics research is a new method of scientific inquiry tha t focuses on investigation of neurodevelopmental dysfunction associated wit h specific genetic conditions. This research method provides a powerful too l for scientific inquiry into human gene-brain-behavior linkages that compl ements more traditional research approaches. In particular, the use of spec ific genetic conditions as models of common behavioral and cognitive disord ers occurring in the general population can reveal insights into neurodevel opmental pathways that might otherwise be obscured or diluted when investig ating more heterogeneous, behaviorally defined subject groups, in this pape r, we review five genetic conditions that commonly give rise to identifiabl e neurodevelopmental and neuropsychiatric disability in children. fragile X syndrome, velo-cardio-facial syndrome, Williams syndrome, Turner syndrome, and Klinefelter syndrome. While emphasis is placed on describing the brain morphology associated with these conditions as revealed by neuroimaging st udies, we also include information pertaining to molecular genetic, postmor tem, and neurobehavioral investigations to illustrate how behavioral neurog enetics research can contribute to an improved understanding of brain disor ders in childhood. (C) 2000 Wiley-Liss, Inc.