Chapter 3 - Genetic disorders associated with intellectual disability

Summary

This chapter looks at the management of epilepsy in people with an intellectual disability, which has gained increasing importance over recent years, and the interface between the genotype causing the intellectual disability and potential behavioral and epilepsy phenotypes associated with this genotype. It uses a working definition of the pattern of seizure type, seizure syndrome and treatment response characterized by a specific genotype. An evaluation of a population of individuals with an intellectual disability, or global developmental delay, is likely to yield a potential diagnostic category in approximately 40-60%. The prevalence of epilepsy amongst the population of people with an intellectual disability varies between studies from as low as 13% to as high as 40%. The chapter also gives some examples of common genetic causes of intellectual disability, and outlines the physical, behavioral, and epileptic phenotypes associated with them.