Fragile X Syndrome

Discussion in 'General Parenting' started by Nina, Nov 1, 2007.

  1. Nina

    Nina New Member

    Not sure why but Pedi has refered us to a specialist to test for this. I looked it up a little online and got confused as to why. Anyone have experience or knowledge on the subject?
  2. Stella Johnson

    Stella Johnson Active Member

    I don't know anything about this one. I think there is someone else on the board whose child has this. Maybe they can help you. Sorry, I can't remember who it was.

  3. SRL

    SRL Active Member

    Sometimes doctors will do this test to rule it out. Many of the conditions we deal with here have no definitive medical tests (ie blood or genetic tests) but this one does so a doctor may do it before looking into more subjective conditions.

    If you're confused after looking at the symptom list, you should probably ask your doctor. What kind of specialist are you being referred to?
  4. Big Bad Kitty

    Big Bad Kitty lolcat

    I used to work with girl who had Fragile X Syndrome. It is literally a broken X chromosome. This is one of those tests that is a definite yes or no.

    Characteristics of Fragile X syndrome on males may not look much different than autistic-like traits, and in fact is the most common KNOWN cause of autism. It can also look like mental retardation, or anywhere in between. In males, it may have physical effects as well. Their hands, feet, ears, and testicles may grow large for their body as they finish puberty, and they can get very tall. This is not a definite.

    The gal I knew was mildly retarded. She had some autistic traits. She was fairly independent, but needed an assisted living arrangement (I was a part time assistant there). She was obsessed with Michael Jackson, the Cubs, and the movie Free Willie. The was near 40 at the time.

    Fragile X is genetic. This gal was one of 7 kids, and every one of them had it.
  5. Marguerite

    Marguerite Active Member

    Our boys were tested for this, and it was negative. They did a blood test for it. Nothing much more to it than that, really.