Genetics of learning disability

A significant proportion of children with learning disability will have an underlying genetic cause. The genetic aetiology of learning disability is broad and includes chromosomal abnormalities, copy number variants, single gene, mitochondrial and imprinting disorders. New genetic technologies are increasing the likelihood that a diagnosis will be made in a child with a learning disability. This provides information on prognosis and complications, thereby facilitating optimal management for the child and genetic counselling for the family. Here we provide an overview of the genetics of learning disability and a clinical approach to investigating a child with a learning disability. The clinical features and management of a number of specific genetic conditions of particular relevance to paediatricians are described.