|Rare Epilepsy Network
Aicardi Syndrome (AS) Foundation
Aicardi syndrome (AS) occurs almost exclusively in female and the diagnosis tends to be made at the time of seizure onset sometime in the first 6 months of life. The primary features of AS includeagenesis of the corpus callosum, lesions in the retina called lacunae, and infantile spasms which eventually evolve in to many other seizure types. Global developmental disabilities and uncontrolled seizures are almost universal, and other common features include scoliosis, feeding and GI issues, and blindness or vision problems. Most individuals affected with AS have moderate to severe developmental and intellectual disability, although some children are on the milder end of the spectrum. Because the gene for AS has not yet been discovered, the diagnosis is based on clinical presentation, brain imaging and ophthalmology exam. There are currently about 1,000 people with AS in the United States and more than 5,000 worldwide. The incidence of AS is about 1 in every 80,000 live births.
The Aicardi Syndrome Foundation [http://aicardisyndromefoundation.org
] is a volunteer-based, non-profit organization dedicated to raising research funds and awareness for Aicardi syndrome. They support research grants and a bi-annual family conference attended by over 100 families each year. The Foundation is also a proud member of the Rare Epilepsy Network (REN), and parents of children with AS may enroll in the registry at https://ren.rti.org.