Careful descriptions of dysmorphic features have led to the delineation of hundreds of specific syndromes and patterns of congenital anomalies. The defining of unusual behavior had largely been neglected by clinical geneticists until the study of the natural history of microdeletions revealed that each has unique and characteristic behavior(s). In this study, a simple tool to describe behavior is presented that is to be used in the genetics clinic as part of routine evaluation. The form is meant to simplify recording and does not require the formal training needed for psychological assessments. It is hoped that routine recording of behavior among individuals seen in the genetics clinic will lead to better recognition of unusual behavior among individuals with known conditions, as well as the recognition of conditions characterized only by unusual behavior. Better description of behavioral patterns should lead to the ascertainment of homogeneous groups of affected individuals with abnormalities in the functional pathways that generate patterns of reaction. The genetic and biochemical basis for these patterns of reaction (abnormal behavior) should then be available for both natural history and molecular studies. The tool consists of 12 categories of behavioral features that can be assessed by the medical geneticist. The list was built to allow the observation of as many behavioral aspects as possible, but to keep it to a practical size and to use those features that are simple to describe and quantitate. We expect that its use will produce a rich source of behavioral profiles and will eventually contribute to the better understanding of unusual behavior.
Copyright 2004 Wiley-Liss, Inc.