The "22q11.2 duplication" is a variably penetrant copy number variant (CNV) associated with a broad spectrum of clinical manifestations including autism spectrum disorders (ASD), and epilepsy. Here, we report on pathogenic "HUWE1" and "KIF1A" mutations in two severely affected ASD/ID participants carrying a 22q11.2…

Background: The aim of this paper was to summarize the main results of the POMONA-ESP project, the first study to explore health status in a large representative, randomized and stratified sample of people with intellectual developmental disorders in Spain. Methods: The POMONA-ESP project collected information about the health of 953 individuals…

The chance that someone will develop any disease is influenced by heredity and environment. Epilepsy is not an exception. Everybody inherits a unique degree of susceptibility to seizures. About 3 percent of the United States population is prone to seizures and will get epilepsy at some point of their lives (1). Two thirds of the people with…

The problems facing an epileptic eight-year-old girl following a seizure in the classroom are discussed. The girl's epilepsy, in this instance, served to exaggerate an already existing conflict between the mother and father. Family counseling was implemented to help resolve the problem. (PHR)

Some teenagers with epilepsy only have to deal with seizures, which can be tough enough, but for other teens, seizures are not the only problem. Parents and caregivers often report changes in their teens' abilities to think clearly, learn in school, or remain focused in class. Mood and other behavioral problems may also be seen. It is critical…