ABSTRACT

With recent advances in molecular genetics, clinical geneticists, paediatricians and other health professionals are increasingly identifying specific genetic conditions in children who, until now, were usually characterized only in a very general way as having global or specific intellectual disability, often with accompanying behavioural and emotional difficulties. Many individuals who come to the attention of health and mental health professionals as having special learning needs can now be described much more precisely in terms of a genetic condition or syndrome. In this chapter, we hope to demonstrate the value of the process of syndrome identification or diagnosis for understanding the adjustment difficulties and needs of particular groups of people with intellectual disability, and for informing assessment and intervention work with them.