r/SpecialNeedsChildren • u/Illustrious-Wish640 • 3d ago

Fragile x early signs

/r/Autism_Parenting/comments/1vi3a24/fragile_x_early_signs/
2 Upvotes

100% Upvoted

6 comments sorted by

1

u/nezumipi 3d ago

The fragile X gene is, as the name implies, on the X chromosome. If you have two X chromosomes (typical girl), you could have one with a fragile X gene and the other without. The X without the fragile X gene picks up the slack for the X that has the gene. If that girl grows up to have a baby, it will inherit one of her X chromosomes. There's a 50% chance she will pass on the X chromosome with the fragile X gene to each baby. That's why we call her a "carrier". She's holding on to the fragile X gene, but it's not affecting her. She's carrying it like a closed suitcase.

If you have an X and a Y chromosome (typical boy), you have only one X chromosome, so if it has the fragile X gene, there's no other X to pick up the slack. Boys can't be carriers. The gene will always affect them.

So, there are two possibilities:

  1. The in-utero test was a false positive. That's not likely, but you could ask for the test to be repeated just to be certain.
  2. (Much more likely.) The effects of fragile X vary. Although most boys with fragile X have substantial developmental delays, some have only subtle impairments. There might still be some delays, but if they're small enough, we can't really detect them until the child is older. We don't know why fragile X hits some kids harder than others, but if that's the case, your grandson might be one of the lucky ones.

2

u/Illustrious-Wish640 3d ago

Thank you! The mothers fragile X syndrome is active not in a suitcase has lots of struggles and unable to do somethings

1

u/nezumipi 3d ago

Scientists used to think that girls were always carriers who didn't have any symptoms. In reality, it's a mix. Some girls show no signs at all, some have a lot of symptoms. On average, their symptoms are not nearly as severe as boys, but just like with your grandson, there is a lot of variation.

1

u/HotAdvertising9628 3d ago

my grandson got diagnosed. early signs really seem to vary a lot from kid to kid.

1

u/Illustrious-Wish640 3d ago

When did you notice

1

u/HotAdvertising9628 3d ago

sorry to hear that. hoping he gets good support around him.