ASD & Genetic Testing - Tell the NAS what you think

[Davros]

I didn't put this on the recent thread about antenatal testing as I am feeling a bit bad about another thread being hijacked into ASD!! I was a bit naughty as I rather ignored the fact that the thread was originally about DS, everyone must get fed up with us ASDers!! I have also been thinking about that anyway and that, although we share many experiences and feelings, the situation with testing is quite different for, say, DS/ASD. Anyway, read on:

In the latest issue of Communication, the NAS's mag, there is a big article about genetic testing and they want members' views and comments about the issue, email [email protected]
By coincidence there is a letter from a parent bemoaning the fact that the magazine specifically (but the NAS and AUtism movement in general if you ask me) is becoming dominated by people with AS/HFA and their parents. I really have noticed this and a lot of assumptions are being made about the "rights" of people with disabilities to just be as they are. That is fine and dandy if you can look after yourself and express yourself, but those who can't have recently been rather marginalised and those who speak for them have even become somewhat demonised as being "negative"!!! I will write in myself when I get a chance to read the article first!!

Is there a proven genetic component or any 'physical' brain changes for ASD? I thought it was dx on behaviour after things like Williams syndrome or Landau-Kleffner had been ruled out. Sort of, you test for everything and if its negative then its ASD?
Sorry, don't know much about this one.

I haven't had the latest one yet but I've certainly noticed that a lot of the magazine seems to concentrate on AS/HFA. I'll look out for the article, if it ever arrives!

There was an article in The Times today about autism and hopes for finding genetic causes.

I think it is considered to be highly genetic or hereditary because of studies showing the much greater incidence in families that already have some ASD including twin studies. In my own family I have a sister with AS, possibly two cousins with AS and a cousin who has a son with classic ASD very like my own DS. ASD is dx by observing behaviour as no-one has found a precise gene. It also seems to be believed that ASD falls into many sub-groups, rather than just the 2 previously acknowledged, i.e. progressive (from birth) and regressive (becoming evident later). I heard Gilly Baird speak once and she said that the proportion of progressive/regressive has stayed the same since any note was kept, going back over 20 years which was a great surprise as most people, including me, believe that regressive ASD is a relatively new thing that hasn't been accepted by many professionals, apparently not. Then there is also the theory of environmental factors such as immunisation, viruses, pollution etc and whether these work alone or with a genetic predisposition.....
Please correct me anyone or tell us more.

Oh, I also believe that there is some evidence of brain difference in ASD, again probably SOME ASD which is why its so hard to pin down. I can remember talk of larger brains at a certain age, difference in hypothalmus(?) and higher levels of endorphins but I don't know a lot about and I'm sure others on MN know much more.

I remember the Paed telling me that having a large head is common with ASD. Ds1 has a big head. Ds2's is almost the same size as his brother's, even though there is a 3yr age gap. I have no idea if research has been done on this though.

I get a little confused with all the abreviations, but if ASD is autism, then yes it does seem to be genetic with an environmental component. (My father is a scientist and his lab is working on it). There does seem to be more than one type, so maybe more than one genetic mutation is the cause. Anyway, it is likely that in the next decade there will be the possibility of some sort of genetic test. It is also not clear how reversible or irreversible it is. But surely there is no doubt that having a severely autistic child is as difficult or perhaps even more difficult as having a DS child. Even a highly functioning autistic child with aspergers can be a huge amount of work.
Sorry, if I have completely misunderstood the op.

I believe that everyone should be given help to communicate, by whichever means they can, whether that be via speech, via a PECS system, a communications device like MinSpeak, or by signing (or any other means that allow a person to convey effectively what they want). I also believe that a person should have help coping/preventing sensory issues that impact negatively on their day to day functioning. There needs to be a line drawn between those aspects that genuinely hinder a person from functioning well in their everyday lives and being as independant as possible and those aspects that are just seen as odd and which really don't need to be changed.
I will say that it is often a mistake that the ability to speak and to know how to do something must mean the person can express and cope with daily living skills. Unfortunately this is not always the case. Whilst there is a significant difference between LFA and HFA/AS, people who have AS and HFA often have definite difficulties looking after themselves. I know with myself I am very bad at day to day skills and ironically things have become better since I was a mum. I have a very bad short term memory, almost certaintly a non verbal learning disability as part of my AS and strong dyspraxic traits along with a habit of freezing up at inopportune times which makes organising and putting things through very hard. I can usually only concentrate on one thing at a time, which means my sons' needs get attended to but other things often get missed. In terms of expressing myself I can talk quite articulately on an academic subject but struggle to express my needs and wants. It's not out of shyness, I can't even tell my husband most of the time. It goes beyond difficulty with social chitchat, it's meant I haven't been able to tell people I'm in pain, that I want a drink or that I need the toilet.
In terms of a genetic basis, I agree that there certaintly seems to be one, I have the evidence in my own family.

You've got it right, Davros. There will definitely be more than one gene involved, and some mutations will undoubtedly be more influenced by environmental factors than others, but I wouldn't have thought tests will be that far off. The question really is how much genotype/phenotype correlation there is, i.e. how easy it will be to predict the severity from the mutation. It's going to be very difficult if the same gene/mutation can manifest itself as either mild Asperger's or really severe autism in different people- not a decision many people would want to be making in terms of antenatal testing I would think, however keen they were.

bullet, you sound like my sister in many ways! I do get fed up when people spout the idea that AS is very marginal and like being NT but awkward. My sister is as "independent" as anyone can be....... but she is not at all good at it!! She sometimes gets unhappy/depressed when things go wrong, mostly because she doesn't understand how/why things happen and usually blames other people, but most of the time she trundles along in her own way. No-one should tell her what she can or can't do as long as she's not doing any harm but I really do worry about her increasing unhappiness although I suspect that is MY view on things and not hers.

It's irrelevant now I suppose as we won't be having any more children, but personally I would not have genetic testing. My older son is autistic, has possibly regressed in speech (words have mostly vanished, to be replaced with "uhhh" and before then were mostly echolalic and some labelling, though we'll have to wait to see if it's a definite regression or just a temporary phase), is not toilet trained and needs a lot of help and support every day. I cannot imagine life without him, he is bright (scores in the 90th centile for non verbal puzzle solving), happy and very affectionate (albeit on his own terms).
I would like to see a society in which the help given for people on the spectrum is provided willingly and without people having to constantly chase up or beg for resources. Where a person's skills are recognised and expanded on whilst their difficulties are being helped. I don't want a world in which parents feel as though a termination for a severely autistic child must be the only option, but where there will be access to help to enable the person on the spectrum to live as independantly as possible and if independant living or partial independant living, is not an option, that the resources are out there to help them and they are not made to feel a burden.

Davros, does your sister know she has AS? It might be worthwhile her joining a support group (I go on online groups as the thought of real life ones send me out in a cold sweat :D). You get support, people understanding your perspectives and a chance to discuss things you're having difficulty with.

' will say that it is often a mistake that the ability to speak and to know how to do something must mean the person can express and cope with daily living skills'

I would agree, sam ahs extremely high verbal skills yet no skills inother areas thata re the ones that DH and I feel will ultimately cause him to stay with or close to us- hygiene, a particularly marked lack of empathy (nagging me for CITV whilst I am being sick still annoyed at from earlier LOL), complete lack of understanding of cause and effect, boundaries (eg shoplifting, aggression) etc.

Although whereas ds1 MAY remain with us, i can't imagine ds3 could ever even get a bedsit next door- his speech is what I would refer to now as seriously limited at 4 9although he ahs an expanding Vocab, he operates on a 1 word level- so you couldnt say put cup in sink, he'd only get cup iyswim).

Wouldn't want ASD testing myself (PG with no4) but could see why some parents might. I'm very dependent on family and Dh for example for such basic things as shopping, without them i can't imagine how I would cope.

I can draw a family tree of people with HFA, AS, etc in my family AND dh's. There's loads! Diagnosed and undiagnosed but bloody obvious. I suspect some ASD's as well as a few of my Aunts (twins) had severe issues that had them placed in psychiatric units at a young age 9and we're talking 940's here- dad second youngest of 16!), but ic an't know that for sure as they are both very deluded about their own dx's / abilities iykwim.

Interesting about the large head- I had heard that befire, but I have to buy a size up for ds3 as his head is so big LOL! Ds1 is of larger head as well- also my nephew has such a large head that the PAeds were concerened when smaller, and Mum and I were discussing how he seems to be so much like Sam in so many ways. Time will tell.

That was a lovely post about society bullet.

Congratulations Peachey, I didn't know Will you have to have time off from your course?

I'm due in the Easter hols LOL, and will ahve submitted my dissertation and only have exams 6 weeks after so plan on continuing , then a year out (poss. an OU post grad in something sn) then a return of a year to Uni, prob PGCE as planned (bath Spa, if poss as we hope to be back in Somerset- getting seriously homesick ), I fancy librarian post grad as my idea of heaven is a big pile of old books and manuscripts but really ahrd to find locally.

If it gets too much though, i can defer any time up to ten weeks before finals, and then finish the last few weeks next year .

Blimey, respect You'll do it though, I'm sure

Have no choice LOL- Dh si desperate to do his degree now and to get his business up and running, its at that stage where he'd need to be fulltime to tkae it further but can't afford to yet. So I have a time limit LOL (he's doing stage and theatre lighting with digital electronics)

I don't know how old all your children are but my DS is 12 and, although that's not really old, its a hell of a difference from when he was 4 or 5 etc. He is non-verbal (but communicates well with PECs/Makaton although limited), he has learning disability and Challenging Behaviour. He is often unhappy and there is nothing we can do about it, I don't know if its "moods", something tangible that I missed or....??? He will never be able to live independently, he will never feel that he is a burden as that is a concept way ahead of him. Luckily he now has one sibling who can keep an eye on things later in life (I hope) but if she ducks out then he will have no-one. It fills me with dread. I certainly would have genetic testing and I'd like it to be available for DD and her cousin and other relatives in the generations below us.

Oh wow, that sounds like a perfect fit with the carnival floats! I take my hat off to you both, I really do.

Sam is 7.5, ds3 is 4 so still quite young- but sam gets worse as he ages I think, either that or we become mroe acutely aware of what isn't coming into focus, iyswim. Fortunately, I ahve a HUGE family so there'll always be someone to keep an eye- as wella s 2 sisters with children, I have around 40 aunts and uncles, all with kids (!). DH's family disowned us (well his Mum, FIl about but not much- he ahs a new partner) after sam's Dx, she doesn't like freaks a weirdos . Neither so we, so we don't phone her

tamum you spotted th magic link pmsl, Dh wants to be... a profdessional carnivalite LOL!

(year out this year, but just 1!!)

Peachy

Davros, feel free to tell me to butt out, as this is sheer interest/nosiness, but how would you feel about testing if it couldn't tell you anything about severity? I'm just interested as I think it's a dilemma that will crop up more and more with time, not just about ASD but all sorts of things.

Peachy about your MIL!
Tamum, already having a child with severe ASD, if I were able to have more children and could have a "general" test not giving any indication of severity then I would seriously consider it. In fact, when we had DD we seriously considered finding out the sex and not having a boy simply because of the higher incidence. We didn't do this because of my age and, if you do it once, you have to do it again and again. Also, of course, there is no guarantee with a girl (see my sister earlier). But, even if you could predict so-called severity, as has been said lots on here and MN/SN in general, having AS and no learning disability doesn't necessarily make things easy, either as a parent or as the individual with AS. I have seen my sister muck up almost everything for years and years. OK, most of the time she is unaware or doesn't "care" (in my terms) but I still think she is deeply unhappy much of the time and I really worry about her as she gets older (she's 50 now).

Just in my case, severity would be irrelevanta s DS3 is more severe yet FAR easier to aprent than ds1, ds1 has particualr aggression issues that I personally think result from a botched birth but have been lumped in with the AS iyswim, he also has additional learning difficulties.

Generaly, the idea of telling someone well your child has ASD but they could be anywhere on the spectrum from the severest I have met (worked at a unit for those ranked as very much the most severe as a much younger owmen- none of them dispalyed any awareness of contact with the outside world whatsoever) to the level of my cousin, AS, 4 A's at A-level last week place to study music and chemnistry... how can anyone make a decision on that basis?

However, I walked out of my amnio (DS3 was high risk downs) so my experience has been polarised iyswim