I Was Doing It Wrong – He Is Autistic
I got Charlie tested for Fragile X because he had many autistic behaviors/problems and some physical features of Fragile X. Fragile X often causes a lot of autistic behaviors but is not the whole story so I thought would have him tested for that.
I found out today that he does not have Fragile X syndrome, so I started researching autism again. I have researched it a lot over the last two years, because that has seemed to be what is going on with him.
I kept thinking that Charlie had all the criteria for autism except the non-social part, but I never bothered to read the directions for the DSM-IVR, which tell how many critera need to be met for a diagnosis. I thought they ALL had to be met, when actually it is just 6 – With at least two being from group A and and at least one each being from groups B and C.
Charlie meets plenty of the criteria and then some. His doctor diagnosed him with “Autistic Features” in January, but I think a specialist is required for a full diagnosis. I will do that when we get back to Seattle this summer and find out about any and all help available for him.
From this point forward, I know I know what I’m dealing with – He is autistic. I know “why” – because he is Charlie and that was the cross he was given to bear. I don’t know exactly how to help him or whether he’ll ever be “thoroughly ok,” but knowing what I am dealing with gives me a good start.
It has been a real nightmare not knowing what’s wrong, then thinking I knew, then not, then thinking I did – back and forth ad nauseum. But now I know and I can put all my energy on how to help him as opposed to just wondering and worrying all the time.
knowing what’s going on does give a direction, i’ve always liked it when things settled and there was a course of action i could follow from there on. charlie has a great many gifts, the first was you. i’m sure that whatever life has in store for him, you’ll have helped him prepare as best you both can.
One word of caution on Fragile X Testing, make sure they ran the correct tests. Far too many medical professionals too often run the Chromosome Analysis test only which has proven unreliable in identifying FX (this test was created prior to the discovery of the gene in 1991). Better details at the end.
Another option, if it was truly a negative, check out http://www.fmr1resequencing.org if you are still looking for answers and want to rule things out.
Good luck and hugs, Sally
What Parents Need To Understand About Fragile X Testing
1. Fragile X Syndrome is a mutation on the Fragile X Mental Retardation 1 (FMR1) gene on the X chromosome. This gene produces the Fragile X Mental Retardation Protein (FMRP) when the gene is turned off it produces no protein, or not enough protein, which results in Fragile X Syndrome.
2. Males have an X and Y chromosome, and females have two X chromosomes.
• Males have only one X chromosome when the gene is turned off it will result in Fragile X Syndrome.
• Females have two X chromosomes and their X chromosome in which the gene is normal may or may not produce enough protein, they may or may not be affected.
3. Any doctor – including your pediatrician, neurologist or psychiatrist – can order the blood test.
4. Karotyping or chromosome analysis CANNOT accurately diagnose Fragile X.
• Used for diagnosis prior to the discovery of the gene in 1991, with the passage of time they have found karotyping and chromosome analysis unreliable in diagnosing fragile X, producing false negatives.
• Anyone previously tested for fragile X by karotyping or chromosome analysis alone should be retested.
5. The Southern Blot DNA test with PCR analysis is 99%+ accurate in diagnosing Fragile X. The only problem with these tests is that they may not pick up a deletion of the gene, which can occur but is a rare. Southern Blot DNA test with PCR analysis is less expensive than the older karotyping/chromosome analysis tests.
6. Southern Blot and PCR can identify changes in the DNA code represented as CGG repeats in the FMR1 gene. Special note: The type of tube used for drawing the blood is important. They need to use the right tube or the preservatives inside the tube could destroy the blood sample for DNA testing, the tube should have a purple top.
7. CGG repeats in the FMR1 gene signify the absence or presence of Fragile X.
• CGG repeats less than 50 indicates the gene is normal
• CGG repeats greater than 50 but less than 200 indicates a premutation, the gene is unstable and can expand in future generations
• CGG repeats greater than 200 indicate a full-mutation, the gene is turned off, produces no protein, or not enough protein
8. CGG repeat numbers, other than identifying individuals as normal, premutation (carrier) or full-mutation, cannot be used to identify how affected an individual with Fragile X will be. Fragile X is a spectrum disorder causing anything from mild learning disabilities to severe cognitive impairment (mental retardation).
9. How can you tell if the right test was ordered:
• Test results should provide the CGG repeat count on the allele, with males there should be one allele, with females there should be two alleles.
• If no CGG repeat count is provided this is a strong indication that they may have performed the older, unreliable tests and testing should be redone using Southern Blot DNA test with PCR analysis.
10. Where to learn more:
• Fragile X Syndrome: Diagnostic and Carrier Testing, http://www.acmg.net/StaticContent/StaticPages/FragileX.pdf
• FRAXA Research Foundation, http://www.FRAXA.org
• National Fragile X Foundation, http://www.fragilex.org