Aicardi syndrome
Diagnosis and Testing
How are children tested for Aicardi syndrome?
Aicardi syndrome is most commonly diagnosed by its symptoms, but because each child may present different symptoms, extra tests may be needed. Some tests that are used to diagnose Aicardi syndrome include an MRI of the brain, which makes pictures of the brain to look for a small or missing corpus callosum and other problems with the formation of the brain. Those with Aicardi syndrome should also have an EEG to look at the brain waves to diagnose and treat seizures. An ophthalmologist (eye specialist) should look into the eyes at the retina to look for small cream-colored cavities called retinal lacunae.
More Diagnosis and Testing Content
Is there newborn testing for Aicardi syndrome?
Is there more than one test for Aicardi syndrome?
Who else in my family should I test for Aicardi syndrome?
Is there newborn testing for Aicardi syndrome?
Newborn testing currently is not available for Aicardi syndrome as the specific gene responsible is unknown. However, a diagnosis can be made based on symptoms.
Is there more than one test for Aicardi syndrome?
Aicardi syndrome is most commonly diagnosed by its symptoms, but because each child may present different symptoms, extra tests may be needed. A test that is often used to diagnose Aicardi syndrome is an MRI of the brain, which makes pictures of the brain to look for a small or missing corpus callosum and other problems with the formation of the brain. Those with Aicardi syndrome should also have an EEG to look at the brain waves to diagnose and treat seizures. An ophthalmologist (eye specialist) should look into the eyes at the retina to look for small cream-colored cavities (lacunae).
Who else in my family should I test for Aicardi syndrome?
Aicardi syndrome usually occurs sporadically or randomly due to new mutations that occur naturally in a person. Because of this, it is unlikely that other members of the family would also have Aicardi syndrome. However, if other people in your family have symptoms that are consistent to those of Aicardi syndrome, they should be evaluated by a medical geneticist. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website.
I already have one child with Aicardi syndrome, what is the chance I would have a second child with the condition?
Because Aicardi syndrome usually occurs randomly with no previous family history and is believed to be caused by new changes in the genetic code, the chance of having a second child with Aicardi syndrome is believed to be less than 1%.
