Behavioral Phenotypes and Genetic Syndromes

Abstract

Genetic research into human disease has been undergoing a revolution in recent years and our understanding of genetic influences on ID and other mental disorders is rapidly advancing. An increasing number of genetic variants are being found to be associated with ID and the relationship between ID and other mental disorders is beginning lo be clarified. There are now several examples of variants which are associated with a range of neurodevelopmental disorders such ID, autism, and schizophrenia. Concurrently the detailed study of behavioral phenotypes is improving our understanding of the typical presentation of intellectual disability syndromes. The proportion of people classified as having idiopathic ID is gradually declining, and as more individuals with a specific genetic change are identified, the phenotypic description of that syndrome will improve. However specific diagnoses are still relatively rare and may even be unique lo an individual or family, which limits the prognostic utility of the diagnosis. Furthermore, genotype-phenotype relationships are complex and often difficult to interpret. The coming challenge will be to translate our increased understanding of the genetics of ID into an increased understanding of the pathological mechanisms which end in impaired cognition and behavioral and emotional disturbance. It is hoped that through mechanistic insight new targets for treatment will emerge. (PsycInfo Database Record (c) 2022 APA, all rights reserved)