Aicardi Syndrome

Aicardi syndrome, a neurological disorder, was identified more than 30 years ago. Yet since then not much knowledge has been gained about what exactly causes the syndrome. Researchers believe it is caused by the defect of a gene or genes on the X (female) chromosome, since Aicardi syndrome affects only girls (or boys with an extra X chromosome, called Klinefelter syndrome. Without knowledge of the genetic defect involved, researchers cannot screen potential parents for the disorder nor develop specific treatments. Aicardi syndrome affects girls from all ethnic backgrounds. There are an estimated 300-500 known cases worldwide, but the exact prevalence is unknown. Symptoms There are several symptoms that may be found in children with Aicardi syndrome: * Lesions on the retina of the eye – these are specific to the syndrome and confirm the diagnosis * Partial or complete absence of the structure (called the corpus callosum) that links the two halves of the brain and allows them to communicate * A type of childhood seizure (called infantile spasm) that begins in infancy * Moderate to severe mental retardation and developmental delay * Other brain or skeletal malformations Aicardi syndrome is usually diagnosed when seizures begin, around age 3-5 months, but it might only be recognized when the child is a little older if the symptoms are milder. Treatment There is no cure for Aicardi syndrome, nor is there a specific treatment. Seizures are managed using anti-seizure medications, and physical and occupational therapy can help the child achieve his or her developmental potential. Some children are able to walk and communicate through speech or with assistance, but many are not. How long a child with Aicardi syndrome will live varies depending on how severe the symptoms are. Children with the syndrome have difficulty with respiratory infections such as pneumonia, which may shorten their life spans.