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Definition Return to top
Aicardi syndrome is a rare genetic disorder characterized by infantile spasms (jerking), absence of the corpus callosum (the connection between the two hemispheres of the brain), mental retardation, and lesions of the retina of the eye or optic nerve.Causes, incidence, and risk factors Return to top
The cause of Aicardi syndrome is unknown at this time, but is presumed to be a genetic disorder carried on the X-chromosome in some cases and a random, sporadic mutation in others. There are less than 500 cases of Aicardi worldwide.
Symptoms Return to top
Children are most commonly diagnosed with Aicardi Syndrome between the ages of three months and five months, if they meet the following criteria:
The classic criteria remain the cornerstone of diagnosis in most patients. However, in rare cases, one of the features, especially lack of development of the corpus callosum, may be missing. The diagnosis can probably be made in such cases if two or more of the criteria below are present:
Signs and tests Return to top
Treatment Return to top
Primarily involves medical management of seizures and any other health concerns, early and continuing intervention programs, and therapies for developmental delays.Support Groups Return to top
Aicardi Syndrome Newsletter was established in 1984 by the mother of a daughter with Aicardi Syndrome in order to provide information and support for families due to the extremely rare nature of this disorder.
Publications include a bimonthly newsletter brief, and 2 to 3 large digests annually, which are distributed to member families worldwide. The newsletter has also published yearbooks, family directories, and 2 medical-model surveys of affected daughters.
Contact: Denise Parsons
1510 Polo Fields Court
Louisville, KY 40245
(502) 244-9152
E-mail: aicnews@aol.com
Aicardi Syndrome Foundation, A.S. F. is a not-for-profit, tax-exempt organization, incorporated in 1991. Working in cooperation with the Aicardi Syndrome Newsletter, the Foundation is funded by private donations and various fundraising events.
The A.S.F. has contributed financially to research into the causes of Aicardi Syndrome, and provides funds for the purchase of medical and adaptive equipment for affected daughters, publication and distribution of the Newsletter, and biannual Aicardi Family International Conferences.
Contact: Al and Cindy Meo
450 Winterwood Drive
Roselle, IL 60172
1-800-374-8518
E-mail: aicardi@aol.com
Additional information can be found at the Aicardi Syndrome web site: www.aicardisyndrome.org
Expectations (prognosis) Return to top
Prognosis varies widely depending upon the affected child’s overall health and severity of symptoms. Nearly all have severe learning difficulties, although a few have some language abilities and some can walk independently or with support.
Many remain totally dependent for their care. The known age range of affected children is from birth to 30 years of age.
Complications Return to top
Complications vary according to the degree and severity of symptoms.Calling your health care provider Return to top
Call your health care provider or seek emergency care for spasms in an infant or epileptic seizures. Update Date: 7/15/2004 Updated by: John Goldenring, M.D., MPH, Department of Pediatrics, Children's Hospital, San Diego, CA. Review provided by VeriMed Healthcare Network.
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Page last updated: 28 October 2004 |