Background: The aim of the study was to determine neurological and neuropsychiatric manifestations in a group of patients with previously undiagnosed or untreated phenylketonuria (PKU) in the south-eastern part of Poland. Methods: The study was conducted among 400 adults with severe intellectual disability who were born prior to neonatal screening…

Dravet syndrome, or as it was called in the past "severe myoclonic epilepsy in infancy", is a drug-resistant epilepsy first described by Charlotte Dravet in 1978. Besides the well-known and well-described therapy resistance, Dravet syndrome dramatically impacts the development and behaviour of the affected children. As it is still not a curable…

Epilepsy has one of the worst social outcomes for child development of the common disabilities. For most children, epilepsy is not nearly the physical challenge that many other chronic health disorders are. The problem in raising a child with epilepsy is much more emotional and social. In this first part of a three-part article series, the author…