Monday, August 12, 2013

Microcephaly

I needed to find some paperwork today and that involved going through a TON of Asia's "stuff". I keep articles, Dr. visit notes, stuff from school etc. I started reading a article given to me by Asia's geneticist that I haven't read yet. It came from the European journal of Human Genetics  and was written about 2q23.1-so it's kind of lengthy and involves a bunch of stats and footnotes (I have to be in the mood for this kind of stuff). Something stood out in the title-as it listed traits associated with 2q23.1 along with all the others seizures, intellectual disabilities etc. I noticed the word Microcephaly. I have never paid much attention to that word and I don't know why but, I have seen it listed in Asia's Dr. reports many times-from her neurologist, her PT, probably even others and I never asked about it before. I have never heard anyone say the word Microcephaly. It has to do with her head size being smaller then it should be-I have never thought about it being anything to stress about. Her neurologist always has a bit of a concern about her head size-initially that lead him to believe she may have other disorders that were later ruled out like Angelmans. So I googled it today-

So many things about Asia are unknown at this time. A lot of Asia's symptoms are some of the mysteries of the world-like seizures, adding Microcephaly to the list is another one. I am a little saddened adding another trait. You wouldn't think head size would effect so much but it can. Who knows what problems it is really causing her. I don't even know her measurements and if it is a big difference or slight difference.

This is a little bit from Wikipedia...

Microcephaly is a Neurodevelopmental disorder and a  type of cephalic disorder
Neurodevelopmental disorders,[1] are impairments of the growth and development of the brain or central nervous system. A narrower use of the term refers to a disorder of brain function that affects emotion, learning ability and memory and that unfolds as the individual grows. The term is sometimes erroneously used as an exclusive synonym for autism and autism spectrum disorders.  It is usually defined as a head circumference (HC) more than 2 standard deviation below the mean for age and gender

The disorder may stem from a wide variety of conditions that cause abnormal growth of the brain, or from syndromes associated with chromosomal abnormalities.

In general, life expectancy for individuals with microcephaly is reduced and the prognosis for normal brain function is poor. The prognosis varies depending on the presence of associated abnormalities.

No comments:

Post a Comment