Hi everyone its Kate. I have been doing some research on something called Fragile X Syndrome or FXS. I have a feeling that Zach may have FXS and would like to look into testing for it. Some of his family history and traits are there. One is flat feet and also a lot of people in his family display autism like traits, but have no diagnosis.
I am concern because males pass on FXS more frequently to there daughters then there sons, and I have a feeling we are having a girl. We don’t want to know the gender till she comes into this world. If any of you have input about Fragile X Syndrome I would really appreciate feed back for both Zach and I. And also I may want to do prenatal testing for FXS. I Would like feedback on that as well. What do they do during the prenatal test, how accurate is it and does it hurt?
Katelyn is Zach’s fiance and is currently 4 months pregnant with their child. She has fetal alcohol syndrome and blogs about it at Life With FAS
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{ 3 comments… read them below or add one }
My thoughts on prenantal testing are I’m against it. I feel like its information I don’t want to know, and there is nothing that can be done about it .
But I will support Kate if she decides to get the testing done.
Ok, I know a fair bit about Fragile X as my older son was tested for it and, because I show a good deal of the female presentation of Fragile X I was also tested. Results, incidentally, were both negative. Going to the Fragile X Society’s web pages will give you more precise details, but I will lay out some basic points.
Firstly, about hereditary/passing it on, call it what you will. There are only certain ways in which this can happen. To begin with, with regard to FX there are two main aspects, the premutation and the full mutation. Let’s look at them compared to male and females:
Premutation in males: Causes minimal signs. May have some physical signs and possibly some very mild neurological signs (eg traits of obsessive/OCD behaviour. Most males with the premutation are likely never to know if they are a carrier until the signs reveal themselves in future generations. In older males they may have something called FXTAS, which mimics the signs of a stroke.
What happens if the male has a son?
Then the fragile x will not be passed on. This is impossible, because the male will pass on a y chromosome to his sons and never an x chromosome to his sons.
What happens if the male has a daughter?
Then he can pass on the fragile x. However, he can only pass it on in the premutation form to his daughter.
What are the premutation signs in females?
This can vary widely. Some might have negligible signs, perhaps a few physical ones, including gynaecological, others can show greater and more neurological signs as well. These can include high levels of social anxiety and repetitive behaviours. Female will be mostly unlikely to have significant difficulties, but the premutation can still impact upon their life to some degree.
What happens if the female has a daughter?
Then fragile X may be passed on. However, because the daughter has inherited an x chromosome from her father (who unless there is a coincidence is unlikely to be a premutation carrier of Fragile X) then the signs and symptoms will not be as strong as in a male with full Fragile X. However, these can include aspects like selective mutism, hand flapping and hand biting, social difficulties, skewed academic results, most noticeably good at reading and spelling, poor at mathematics and some emotional difficulties. Also signs of ADHD. Please note that these signs, as with others I have mentioned, are not fully extensive. You do need to look at the Fragile X organisation web sites to get the full extent. The female may show physical signs, eg long face, but this is not always the case. In most cases a female with the full mutation of fragile x in one of their genes/chromosomes is likely to be in mainstream education, though will require support in a number of areas.
What happens if the premutation female has a son?
Then they can pass on the full mutation. This will manifest itself, in the vast majority of cases, in very noticeable ways. Speech and language will be very clearly affected, with the male in younger years at least having difficulties with processing and sequencing language and with using language for social communication. They very often have the noticeable physical signs of long face and big ears amongst others, those these will not always appear until puberty arises. They will have significant developmental delays and will often fit the criteria for autistic disorder or pdd-nos. They might be hyper or hypo sensitive to various environmental factors, eg hyper sensitive to noises.
What happens if the full mutation female has a daughter?
Then they may pass on the full mutation.
What happens if the full mutation female has a son?
Then they may pass on the full mutation.
What happens if the full mutation male has a daughter?
Then the daughter may have a premutation. They will not have the full mutation.
What happens if the full mutation male has a son?
Then Fragile X is not passed on.
With regard to testing it is a matter of a simple blood test. Well, it might be a highly complicated test, but from your perspective you just get the blood taken from your arm then wait for the results.
I apologise for my undoubtedly appalling science within this post. I’m sure someone with a greater awareness (and who didn’t just scrape by with two Cs at GCSE) can give more precise details.
@Zach: Actually, prenatal testing can do some good if the knowledge gained from it is in the right hands. For example, if a mother is going to have a child with Down syndrome, she can get a head start on acquiring services for her child and the doctors can find out about any heart defects. If there are, then the baby is operated on soon after birth and many heart problems are prevented before they start. However, in today’s society, genetic counseling usually consists of the doctor telling the mother a whole bunch of horror stories of what her child’s life will be like. Thus, many babies are thrown into the abortionists’ garbage cans simply because their genes weren’t good enough for the eugenicists and because their mother was manipulated by talk of unrealistic horror stories.