ASD, blood tests and deciding what to do.

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Two years ago Ds1 had blood tests done to check for Fragile X and they came up negative. All ok, except that I have always wondered, because there is an awful lot of signs in my family via my mother's side that suggests strong indications. When I read about the female presentation of the full mutation it was like reading about myself. Basically:

My grandad: Long face, had a stroke (FXTAS is often misdiagnosed as a stroke).

My mum: Extreme shyness/social anxiety throughout most of her life, lessened at age of 60 due to coping mechanisms and practise.

Myself: Strong difficulties being able to initiate, partly due I think to motor planning difficulties, partly due to social avoidance (thougn latter not exclusively as even have difficulties initiating with my husband). Near selective mutism as a young child.
Formerly extremely rapid rate of speech (only slowed down after years of my mum working with me over it)
Hand flapping and hand biting/chewing (though this latter one is rarer)
Gaze avoidance/lack of regular eye contact
Overcrowding in teeth (had to have 7 teeth taken out in one go when I was a child).
Good reading and writing skills, including spelling (typos notwithstanding) but poor maths skills. When my maths skills are present they are for things like adding and subtracting rather than multiplication or algebra, indeed with multiplication I can only work it out either via rote memory or by a system of addition.
Difficulty making friends (believe me it's a lot easier online).
Tangential speech and persevational speech.
Unsure of this one but read an article which suggested at delayed skeletal growth, my bones were three years behind in growth for years.
No obvious physical signs, but not everyone has the physical signs.
Possible mild hyperflexibility of joints, DH has said I can bend my fingers to an extent that seems high, but of course that could mean nothing.
Strong tantrums as a child
Strong signs of ADD/ADHD traits as a child.
Possible simian crease.
Think I have a high arched palate.

Ds1:

Unusual use of language, difficulties with following things without visual instructions, echolalia, repeats words and phrases over and over, difficulties with language used for social communication, probable auditory processing difficulties.

Very sociable and friendly, no fear of strangers, but displays higher levels of reluctance at participation/interaction with larger groups/busier environments unless routine is very familiar.

Excellent imitation skills. Not in the sense of copying everyday activities, but in the way when he repats things he gets the right tone and exact pauses etc right, will copy everything. hand gestures, coughs etc as part of it.

Fantastic memory. Picks up songs/ passages from films. books etc very easily. Eg recited "Wobble Bear" almost word perfectly yesterday without seeing the book even though he had not read it for six months beforehand).

Good with puzzles

Difficulties with understanding of abstract and cause and effect questions/puzzles.

One way in which he appears to differ is he has a good grasp of numbers and counting and adding.,subtracting, but it is too early to tell how he will do in less concrete mathematical skills.

No obvious physical signs but these are not always present until puberty.

Almost certaintly hyposensitive.

Very active, often finds it difficult to settle.

Ds2:

Speech delay and pronunciation difficulties, to the point of almost all words being indecipherable even by myself.

Possible motor planning difficulties, does not point, does not repeat back words/sounds even when capable of the sounds but will look at things. Can not use a straw and when blowing will just part his lips a little and sort of say "pfff". Does have good receptive language skills however.

On later side of average for walking (17 months) and has poor grip, fingers seem more loose, often has to be encouraged to hold something and usually needs support when drawing due to poor grip.

Delays in jumping (I think he may have left the ground today for the first time). Ds1 was also late in being able to jump.

In contrast to Ds1 is more nervous and shy, however with the few people he trusts he is very engaging and can get across his needs very well. He actively ignores/avoids other children, with the exception of Ds1.

More tactile defensive than Ds1, possibly hypersensitive in some areas.

So based on all of this I am of the opinion that I need to ask again about the tests. I don't know which ones were done or what was discoveed, just that they were negative. And part of me is telling myself just to forget it, that Fragile X is very rare and most of these things can be put down to coincidence. But the other part of me thinks there are so many indications that a second opinion can't hurt. If I go back and ask for myself to be tested (no point in putting Ds1 through another blood test based on a possibility) will that be seen as sensible, or bordering on Munchhausens by Proxy?

I think just given your AS DX even without the other stuff that would justify the Fragile X test, as from what I know there can be so much similarity between the two.

There's a lot of cross overs. I think it's things like the rapid speech, the delayed growth and the crowded teeth which is making me more convinced that even (as is probable) the results are negative I won't look completely daft for asking.

I'm not sure if this'll help, but DS was diagnosed with Asperger Syndrome in September 07. It ripped me apart, because in his diagnosis I recognised myself. For 4 months I agonised over whether it was worth getting myself diagnosed. In the end, because I found I was getting depressed over it, I decided to go for it. I was diagnosed in September THIS year. And for me, so far, it has proved a real turning point in the way I feel about myself. That I'm not a bad person, but I have certain "traits" which mean that I just don't always get on with people. That there is a REASON for why I am like I am.

It has made a HUGE difference to me, just getting that diagnosis. If you feel you need to know, then I would go for it for yourself.

I felt I SHOULD post on this because many of the traits you list are traits I have, even if I've learned to hide them.

None of mine have had the test which I wish they had, partly as your OP described me pretty well too. ds1 /3 are asd.

We have a rather long ('we've booked 2 hours with the paed but she's free all day if it needs to go on- so possble 4 hours with a baby n tiny office. crap) and it's likely to be discussed then if bloods need doing.

Personally, I would say if you are wondering, get some answers.

I have a diagnosis of Aspergers, which if it and Ds1's ASD diagnosis just affected us I'd leave it as that. But if the test comes up positive I'll need to tell my family so my sisters can (if they choose) be tested to see if they have the premutation. Plus obviously my mum and grandad would need/want to know.

Aren't low IQ and hyperactivity, plus distinctive large-jawed features the most definitive symptoms of Fragile X? It doesn't sounds as if those are part of your family's package of 'issues'. What you have described does sound more like autistic spectrum disorders than Fragile X to me. And I would have thought the blood test was definitive. I'm sure that Fragile X wouldn't have been ruled out unless they were sure his didn't have the chromosomal abnormality.

25% of people with fragile x do not have the obvious facial signs and females often don't have.
The low IQ usually onl yaffects males, most females have normal iq levels with perhaps a specific area odf learning difficulty (maths being common).
The low IQ in males is something which really comes into effect when the male reaches puberty, it;s sort of a decline rather than obvious from the start.
I was very hyperactive as a child and ds1 is also very active.

Forgot to add that in males often the distinctive facial features do not appear until puberty anyway.
I know the chances are probable that the results will be negative. But bear in mind I do not know if the more accurate DNA test or just the chromosome test was done as well and there are a lot of signs to suggest there's a possibility.

And I forgot to add that whilst 5 years old is too young for an IQ test anyway, were ds1 to sit one then he would get a low score in it due to his difficulties in processing, in understanding and in being able to focus if it wasn't something he was interested in. He attends a special school partly because of his difficulties in learning.
With myself, I have very uneven iq levels, scoring above average for verbal and quite a bit below average (between 90 and 70 usually) on the non verbal parts of the iq tests, eg the spatial awareness tests, This pattern is common in many females with fragile x, or at least the premutation of it.

I half convinced myself by reading web sites that DS1 had fragile x before blood tests ruled it out. Do you mean that there is a more accurate DNA test that can be done? There are crossovers with non frag x autism and there is always the inevitable caveat that not all frag x children will have all the typical symptoms et.

There are two tests that can be done, a chromosome test and a DNA test and I don't know which ones were done. If it was just the behavioural things I'd ignore it, but it's everything I've listed put together (all the things I've said are known signs of fragile x or the premutation in males and females who, just to confuse us, usually present quite differently). When I look at my granddad, my mum, possibly my older sister, myself and ds1 I can see a path from premutation in my grandad to premutation in my mum and possible older sister, to either full mutation or premutation in me, to full mutation in Ds1. And there are things which either don't seem to be part of the autism spectrum, or at least common to it, but are known to be part of fragile x. Eg the rapid talking and the good imitation skills.
I know it is extremely likely that there is no fragile x in our family, but with all the indications I can't shake off the feeling that I at least need to find out that both tests were done.

Everything you've said sounds like a good reason to request further testing or at least to find out which test was previously done. My DS1 has rapid speech but poor imitation skills.

by analogy - my GP a couple years back was happy to do a thyroid function blood test just on basis of me complaining of tiredness - when I was flagging up family history to her too. I would have thought that the blood test would be a relatively simple cheap investigation for them to carry out.

I have decided I shall write to Ds1's paediatrician explaining my reasons, stating I understand it's unlikely due to original tests but could she either point me in the direction of the relevant department/clinic for me to get tested or assure me why the tests were accurate. I don't want to get Ds1 tested again because this is based on my wonderings and to put him through another test again for these reasons would be unfair.
I know I could just head off and get myself tested privately (presuming costs are possible), but this would strike me as presumptious if there really is no need and rather rude.

Now Ds1 does not do the talking at high speed, so that's one thing that doesn't apply to him. But he does show some of the other speech characteristics, eg repeating words in a sentence, (think of a car trying to start up).