Behavioral Phenotypes and Genetic Syndromes

The term behavioral phenotype refers to a cluster of motor, neuropsychological, and behavioral manifestations including distinctive social, linguistic, and cognitive features often associated with genetic disorders. It may be determined by a combination of genetic and environmental factors, and different contexts may modulate its expression. The knowledge of behavioral phenotype can help to understand how an individual interacts with his environment and how to adapt it to suit his needs. In addition, knowledge of the behavioral phenotype in genetic syndromes may guide clinicians to recognize patients’ strengths and weaknesses to develop a tailored assessment and to provide effective clinical management, with a preventive approach, anticipatory guidance, and better rehabilitative priorities. Moreover, genetic syndromes are often associated with intellectual disability or a distinctive neuropsychological profile, which contribute to the complexity of the phenotype. Thus, a careful cognitive assessment is needed to elucidate relationships between cognition and behavior, which can then be exploited for intervention purposes. In this chapter, we will discuss and detail the behavioral phenotype of some rare genetic syndromes associated with intellectual disability.