Confusing Results

[serenityntn]

My son recently had some testing done and I got the results of the physical part the other day and it's very confusing. This is what the doctor's recommenations were:

Consideration for obtaining karotype, fragile X, and chromosomal microarray on his next visit.

Consideration of Ophthalmology evaluation regarding his dysconjugate gaze.

Consideration of diagnosing with an autism spectrum disorder to help the school with appropriate intervention.

Some of this stuff I have no idea what it means. I'm still waiting on the psychological results. I just hope I can understand it better than this one.

Deb

 

[SRL]

Consideration for obtaining karotype, fragile X, and chromosomal microarray on his next visit.
This is all genetic testing. There are genetic conditions that can mimic Autistic traits. One is a disorder called Fragile X.

Consideration of Ophthalmology evaluation regarding his dysconjugate gaze.
Seeing an eye specialist (MD) for eyes not tracking together.

Consideration of diagnosing with an autism spectrum disorder to help the school with appropriate intervention.
The diagnostician likely felt that there enough Autistic traits present either to give a full diagnosis of Autism Spectrum Disorder or else that your child is close enough to the spectrum that having the diagnosis will be beneficial for getting school services.

 

[BusynMember]

All three point to possible autistic spectrum disorder. Fragile X, however, is genetic. The other things are not.

 

[Marguerite]

We had our boys blood-tested for Fragile X. Negative - but it presents similarly to autism, it just has a genetic cause.

That last statement I interpreted to mean that the doctor is recommending testing with a view to assessing whether autism is a likely diagnosis. These days doctors seem reluctant to actually make firm statements in writing, they mostly report on purely what they observed and make recommendations for other people to make recommendations... if you keep insisting, eventually someone will stick their b=neck out far enough and say, "I think it's ...".

Example: a recent x-ray I had on my spine said, "We observed narrowing of cervical spine between C5 and C7 with significant narrowing at C5/6 level. Osteophytes were observed at C5 level and some evidence of cervical ribs were seen at C6 and C7."
But at no point does the report say whether there is any connection between what was observed, and what could be happening symptom-wise as a result. Gone are the days when a report might say, "Significant narrowing suggestive of cord compression with possible mobility/sensory deficits likely."

These days nobody is willing to make a definitive statement.

Marg

 

[TerryJ2]

Hi Deb,
Fragile X is probably the only "real" test there is for autism and Asperger's. Some doctors debate whether Asperger's is a form of autism, but either way, a Fragile X test is a good idea. I am considering it for my son, despite the fact he doesn't have obvious traits like big ears or major clumsiness. It's still good to know.
Definitely sounds like your dr is working on an autism diagnosis.

Marg, your xray rept sounds like mine. Actually, I had the "pleasure" of viewing it first hand, and when I saw the osteophytes, I almost screamed, and said, "Why are there huge fangs on my cervical spine?!!!"" It was terrifying.
Helped explained my headaches and why my left arm keeps falling asleep, though.

Good luck to you.

Deb, let us know when you have the rest of the testing done.

 

[SRL]

http://www.fragilex.org/

 

[serenityntn]

Thanks everyone for the info. It helped alot. I do plan on having those tests done but I thought I would wait until I received the psychological results first. I did take him to his regular dr the other day which she explained it to me also. I did ask her if in her personal opinion did she think he has autism and she said yes. Then I asked her about his eyes and what the report said and she said she has never noticed anything wrong with the tracking of his eyes but she did set him up with an appointment with an eye dr next month. She did say that one of his eyes is stronger than the other and he might need glasses and the first thing that popped into my head was picturing them getting broke the first day he has them.

I was a nervous wreck by the time we were leaving his dr's office. He had to have two vaccine shots and they also gave him a flu shot. He is absolutely terrified of shots. It's almost a phobia with him. I have tried to help him get over this fear by telling him that they don't hurt anymore than having his finger pricked and he handles that fine. I also reminded him that I have to give myself a shot every day and has seen me do it but that still didn't work. He had a major meltdown anyway. I just hope that one day he won't be so frightened by them.

Deb