European Society of Human Genetics location:Straatsburg, France date:24-26 May 2002
A major challenge in both clinical practice and research in the field of mental retardation and of learning disorders is to identify the underlying causes : the genetic, chromosomal and environmental factors that have an important influence on a person’s development and behaviour.
Advances in clinical genetics have lead to an increased recognition of specific syndromes. In recent years, cytogenetic and molecular genetic tools have resulted in the identification of the underlying genetic defects in a large number of these disorders.
For many years, interest has focused on the delineation of the somatic aspects of the phenotypes and their underlying pathogenetic mechanisms. However, in the last decade, researchers in this field paid more attention to the cognitive and behavioural features of various genetic conditions, the so-called « behavioural phenotypes »(B.P.).
A behavioural phenotype is “a behavioural pattern, including cognitive processes and social interaction style, that is consistently associated with, and specific to, a syndrome which has a chromosomal or a genetic etiology”. This approach has proven to be of practical importance for the patients both regarding an earlier syndrome diagnosis, as well as in the multidisciplinary management and follow-up. In addition, the link between a specific behavioural phenotype and a genetic defect represents an unique opportunity to gain insight in the complex neurobiological processes underlying human behaviour.
In this lecture, focus lies on the clinical goals of research in B.P. , and this will be illustrated using the Velo-Cardio-Facial syndrome (VCFS), the Smith-Magenis syndrome and the Prader-Willi syndrome (PWS).