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What is Aicardi Syndrome?

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  • Written By: wiseGEEK Writer
  • Edited By: O. Wallace
  • Last Modified Date: 19 December 2017
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Aicardi syndrome, named after the doctor who first described it, is a difficult disease that almost exclusively affects girls, and is usually diagnosed fairly early in life because of its symptoms. It should be noted that the disease can even more rarely affect boys, but only if they have XXY chromosomes. The disease is thus thought to be sex-linked, but exactly how it occurs isn't precisely known. There doesn’t seem a clear pattern of genetic inheritance.

There are three distinguishing factors of Aicardi syndrome, though others exist, and sometimes there are differences in the way the condition is expressed. The first is that the corpus collusum, a part of the brain that connects right and left side and serves as the communicating highway between the two, is partially or completely absent. Children with this condition might first be diagnosed when the second symptom is noted: infantile seizures. There are also lesions on the eyes that appear like yellow spots. Many girls affected with this condition will have other structural brain defects or brain conditions.

There is no cure for Aicardi syndrome, and at most doctors can hope to manage the condition. Medication is given to treat seizures. Early diagnosis may help in terms of early intervention for the clear developmental delays that are likely to occur. Many kids with this condition do have some degree of mental retardation, which may be severe in some cases or is moderate in others. There are developmental delays of other kinds, which may be partly mitigated with early intervention.

There isn’t much known about the lifespan of people with Aicardi syndrome, since it the condition has only been named and described since 1965. There are currently people in their 40s living with the syndrome, but there are also those who die very young. Other structural brain defects or the persistence of seizures may account from some of the early deaths. There also seems to be increased risk of problems and mortality through the teen years, but that once teen years are passed, many will live at least until mid-adulthood and potentially longer.

How often the condition occurs is also hard to state. Estimates suggest about 1000 people in the world have the condition, and some research suggests that about 1-2% of girls with infantile spasms may have it. Usually, the disease is not missed, however, due to presence of spasms and developmental delays.

There are some helpful organizations for parents raising a child with Aicardi Syndrome, including the Aicardi Syndrome Foundation, located in the US. They feature regional coordinators, a parent support newsletter and an email network. Parents with a child with this condition clearly will need support as they navigate the different therapists and doctors that will work with their children and the difficulties of raising a child with such a serious health condition.

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