Re: medication for AS and genetics

[Guest guest]

>

> Have others had genetic testing we had a chromosome test but not a specific

fragile X test? There definately was an overlap in many things for us. Our

daughter may end up having some variation of it.

> I don't think she fits the profile enough but these kidos have

> more anxiety issues, hyperaurosal, social skill issues etc.

We had genetic testing done as part of our autism testing, but nothing turned

up. They tested for a variety of genetic disorders that are often associated

with autism, extra chromosomes, etc. They tested our whole family. From what I

understand, Fragile X is associated with mental retardation, so I don't think

any of our kids would have that one (although they did test us for it since it

is often associated with autism). The developmental ped at the time took

measurements of different parts of our bodies, looked at our hair and ears and

commented that many of the genetic abnormalities show physically. For example,

ear placement, finger and toe alignment, etc. So, that is something concrete

you could research and check out. Since nothing turned up, I can't say much

more than we've had it done. Some of the genetic conditions are treatable,

so it is worth checking out if you have suspicions.

Ruth

[Guest guest]

>

> Have others had genetic testing we had a chromosome test but not a specific

fragile X test? There definately was an overlap in many things for us. Our

daughter may end up having some variation of it.

> I don't think she fits the profile enough but these kidos have

> more anxiety issues, hyperaurosal, social skill issues etc.

We had genetic testing done as part of our autism testing, but nothing turned

up. They tested for a variety of genetic disorders that are often associated

with autism, extra chromosomes, etc. They tested our whole family. From what I

understand, Fragile X is associated with mental retardation, so I don't think

any of our kids would have that one (although they did test us for it since it

is often associated with autism). The developmental ped at the time took

measurements of different parts of our bodies, looked at our hair and ears and

commented that many of the genetic abnormalities show physically. For example,

ear placement, finger and toe alignment, etc. So, that is something concrete

you could research and check out. Since nothing turned up, I can't say much

more than we've had it done. Some of the genetic conditions are treatable,

so it is worth checking out if you have suspicions.

Ruth

[Guest guest]

Our son had characteristics behaviorally and physically that fit fragile X. We

thought " Wow! were going to have a concrete answer. " We took him to a

geneticist and after examining him stated, " we need to test for Fragile X. " I

truly felt that this was our son's answer; however, all three tests came back

withing the normal range. The wind went out of our sails. It' s not that we

wanted him to have this disorder, it's just that we wanted an answer. With an

answer, treatment would be easier and more proficient. Like you stated, there

are a lot of studies on Fragile X.

I feel the next step is neurological testing, but we decided to hold off for a

little while because we were literally exhausted from all the diagnosing and

testing.

>

> We have been discussing medication protocals. There has been so little

> info for kids with AS. I ordered a book on neurogenetic disoders

> and wow there is a lot of medication research for kids with fragile X.

> Have others had genetic testing we had a chromosome test but not a specific

fragile X test? There definately was an overlap in many things for us. Our

daughter may end up having some variation of it.

> I don't think she fits the profile enough but these kidos have

> more anxiety issues, hyperaurosal, social skill issues etc.

>

> Anyone have any inpput on this area?

>

> Pam

>

[Guest guest]

Sandy I know what you mean. Fragile X kids are very easily hyperaroused and have

great difficulty with normal transitions.

However our daughter was an early talker.

I think it is helpful to use therapies from other DX's it's worth

a try.

A neuropsych test is very helpful. From that you will have a

cognitive profile and this is very very helpful if there

are any school issues.

Our daughter has a specific cognitive profile, called a non verbal

learning disorder. It sounds benign but it is very severe.

I think by age 9 you can get some good testing done.

I didn't get any concrete information from the neurologist

of course they want a MRI that has to be done under

sedation (MRI's are noisy) ...what a journey ....We had a EEG

done too(I think this is a waste of money there is no concrete

data from this it can be useful for seizures of course) ...

A neurologist though gives a DX of autism or PDD that is helpful for getting

services at the school.

Pam

> >

> > We have been discussing medication protocals. There has been so little

> > info for kids with AS. I ordered a book on neurogenetic disoders

> > and wow there is a lot of medication research for kids with fragile X.

> > Have others had genetic testing we had a chromosome test but not a specific

fragile X test? There definately was an overlap in many things for us. Our

daughter may end up having some variation of it.

> > I don't think she fits the profile enough but these kidos have

> > more anxiety issues, hyperaurosal, social skill issues etc.

> >

> > Anyone have any inpput on this area?

> >

> > Pam

> >

>