We are waiting for test results for this, along with other chromosome studies and muscle tests, for my 5-year-old son. After reading on it, I will not be surprised with a positive result. He really fits the profile very well, and my own childhood difficulties with shyness and social anxiety would also fit. But I am confused about one thing - it seems the kiddos with low muscle tone are floppy from birth, and he was not. He had no signs of low muscle tone until he was a toddler (hyperflexed knees when he stood and never got the muscle definition in his legs that I see in other kids after he started walking.) He sat at about 8 months, crawled at about 10 months, and walked at 12 months. No gross motor delays and fine motor tested low at 2 1/2 years but not low enough for services. Can that still be typical of fragile X? He also potty trained and talked earlier than most kids it seems, esp. those with an autism Dx, which he does have, but everything else fits pretty much like a glove. I hate the waiting part ... they told us about 3 weeks for results, which means still another 2 1/2 weeks to go.
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2/10/10 at 1:30pm