Aicardi syndrome only affects females, and in very rare cases, males with Klinefelter syndrome (XXY). It is theorized to result from a defect on an x-chromosome, though until the gene is found, this cannot be confirmed. There is only one case of siblings with the syndrome reported upon in the literature, suggesting that almost all cases are new mutations and other family members do not carry the defective gene.
Children are most commonly identified with Aicardi Syndrome before the age of five months. A significant number of these girls are products of normal births and seem to be developing normally until around the age of three months, when they begin to have infantile spasms. The known age range of affected children is from birth to the late forties.
Treatment of Aicardi syndrome primarily involves management of seizures and early/continuing intervention programs for developmental delays. Prognosis for these children varies. Almost all experience developmental delays, with the majority facing moderate to severe mental retardation.
Treatment of Aicardi syndrome primarily involves management of seizures and early/continuing intervention programs for developmental delays. Prognosis for these children varies. Almost all experience developmental delays, with the majority facing moderate to severe mental retardation.
Aicardi syndrome is a rare genetic disorder identified by the French Neurologist, Dr. Jean Aicardi in 1965. The number of identified cases of children with Aicardi syndrome is very difficult to calculate accurately, but has been estimated at 300 - 500 worldwide.
So.. I am a rare girl here on earth.... thats what it reads. As long as my parents are cool with it, then I will be cool with it.
I have to say, my parents are the best parents in the world! They accepted me and my syndrome with loving arms. God knew what he was doing when he made me part of their family. My mission here on earth is to be an example of Love.
2 comments:
This is such a great informational area. So glad you included this Sue Anne.
Awesome information. Great subject that is not talked about enough.
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