MRI Scan for (Asperger's?) DS, now finally achieved! But what does report actually mean..?

[phoebus]

I've been really keen for ages to obtain an MRI scan for DS (8), to try to confirm (or rule out) his AS diagnosis - as I have long wondered if it was really a misdiagnosed birth injury. Well, hooray, we now have finally got a result, following the scan. Trouble is, I don't really understand the report! - and it's currently proving hard to contact the consultant for more detailed clarification on it. I'll be going to see our GP to discuss it with him, but rather doubt that he'll be able to cast much more light on it, as it's such a very specialised area of neurology.

The report says (thankfully) that everything seems normally developed, with no signs of brain injury. The only thing that the consultant did pick out, was this:

'There is mild prominence of the cerebellar tonsils, but not of a degree of result of a Chiari 1'.

Now I've been googling madly to find out all about 'Chiari 1' (which DS doesn't apparently actually have, but there must be some reason why this was mentioned.....!)

Is there anyone out there who is in the know about any potential links between Aspergers/autism and Chiari 1, or tendencies towards that condition? Does this 'mild prominence of the cerebellar tonsils' indicate that DS IS more likely to have Aspergers?

Any insights or wisdom from anyone who can cast any light on this would be most gratefully received! (I have faith that someone, somewhere, may have been here already......)

[Tiggles]

The cerebellum is at the back of the brain and is concerned with balance/movement. I would think it unlikely that alterations to it would be unlikely to give AS type symptoms per se although obviously a lot of people with AS do have dyspraxic type symptoms too.
The chiari malformations affect the cerebellum so this will have been mentioned as not causing the malformations so it is known that your DS doesn't have this condition, iysiwm.

ps. I'm not a medical professional (but have a degree in neuroscience).

[phoebus]

Thank you LittleMissGreen, this is helping me get a perspective on the report's implications (which - I think - are generally positive). Such high-level reports aren't generally couched in lay people's terminology, hence all the head-scratching....! Still hoping to be able to have a full discussion with the doctor soon, though, to ensure we have a proper grasp of any other potential implications here. I have heard somewhere that there could be some association between Chiari malformations and ASD. Then again, it seems that so many different parts of the brain are implicated in ASD that I expect the cerebellum is also one of them.....

[phoebus]

Thanks too LeonieDelt, just seen your comment too which is also helpful. I suppose I was expecting that the MRI scan would perhaps give some clear indication of some abnormality that was specifically indicative of AS, but I also realise that a standard MRI would probably not be sufficiently fine-tuned/ specialised to pick up these kinds of variations.

Anyway, am definitely glad that he does not appear to have the Chiari malformation, whatever else may be going on.

[HecateHarshPants]

Are there physical signs of ASD in the brain? That is news to me and fascinating. Does anyone have a link to this?

[lisad123]

Can I ask how you managed to get an MRI in the end? I'm pretty sure there is more to dd1 than autism.

[phoebus]

There is new research going on at the moment towards diagnosing ASD through improved brain imaging/MRI. The charity Autistica //www.autistica.org.uk can take you to some YouTube videos on their homepage about some of the current research (which is still very much under development I think, and not yet up and running, certainly not yet ready for children - but it could be the way forward in the future). Dr Christine Ecker of UCL Inst, of Psychiatry is one of the researchers at the forefront of this field.

[HecateHarshPants]

Thanks. Will have a look through that.

[shazian]

Hiya as Phoebus said there is new research going on to give improved brain images to show ASD. Im no use at doing links on computer however if you google Temple Grandins unique brain it may give you an idea of brain of someone with ASD quite scarey really it shows normal image and image of Temples brain she has aspergers, hope this helps x

[shazian]

Hiya as Phoebus said there is new research going on to give improved brain images to show ASD. Im no use at doing links on computer however if you google Temple Grandins unique brain it may give you an idea of brain of someone with ASD quite scarey really it shows normal image and image of Temples brain she has aspergers, hope this helps x

[sneezecakesmum]

re MRI images and ASD. I wonder if this new research shows how the brain processes information rather than any actual brain malformation? That makes more sense as it is possible with MRI scanning to show the former. To the best of my knowledge AS etc wont show anything on a still MRI image, and this report is obviously just a 'picture' of the brains structure.

Unless there a multiple similar reports reported in cases of AS of the cerebellar tonsils being slightly enlarged (sorry dont know if this is the case) it is probably just a slight anomaly which will be within normal limits.

Try to make an appt with the consultant to discuss the results. His secretary can usually be nagged into giving you an appointment

[Sneezecakesmama]

Leoni. I think the way forward with MRIs and diagnostic testing, would be to look at a real time MRI image of the areas which light up during processing. Now getting an autistic child to cooperate inside an MRI scanner would be fun ! Interesting but very challenging

[phoebus]

Hi again (sorry, been away....) - Just to catch up a bit: lisad123 to answer your question: - With enormous difficulty! Fortunately we have a sympathetic GP who did make the referral, as there were substantial reasons to do so. But if one has the option to go privately, I'm sure it would be a much simpler and less painful process (but £££s too). It took us forever; months of waiting, and I had to be on the case the whole time to make sure things actually got done - (letters written but not sent or received, etc) and as you can see, I am still struggling to get full and satisfying feedback!

YYY Sneezecake, pestering the consultant's secretary is top of my to-do list but as an NHS patient I gather they do not usually communicate directly with the patients and it is all supposed to go (laboriously) back via the GP. I can only hope he will be kind and give me a few minutes of his precious time for a discussion of the salient points.

Interesting re: MRIs and diagnostics with ASD: I've found Dr Ecker's articles illuminating as she is exploring the actual subtle physical differences between the AS brain vs the 'normal', through very specific and fine-tuned MRIs /analysis that go to a whole different level. There does seem to be a significant and measurable difference in the relative volumes of grey as opposed to white matter between the 2 kinds of brains. As shazian says the Temple Grandin brain example also indicates some differences.

My DS had a general anaesthetic for the scan: not pleasant for him, (or me) as he reacted badly to the gas..... but I can't imagine he'd have coped at all if he'd been awake. Movement during a scan would also compromise the quality of the images I think.

[ilikemysleep]

The problem with all this is that autism is not a single condition, like measles is for instance. It's a cluster of behaviours diagnosed by judgement and there are all sorts of causes that can result on 'autistic behaviours' - for example, correlations with learning difficulties, higher incidence in certain genetic conditions such as fragile X, known to be caused by mistakes on certain chromosomes such as chromosome 9- but those behaviours can even be pretty well reproduced by putting a baby in a cot and ignoring it except for feeds - (not suggesting anyone has done this. just illustrating that there isn't any single 'cause' because there isn't a single 'condition')- like with the Romainian orphans for instance. That is why there is such a massive range of 'treatment options' and some produce stellar results for a few kids and do nothing for others. They are usually reluctant to do MRIs for 'straightforward' autism because - let's say Dr Ecker is correct and a brain scan confirms a subtley altered volume of grey vs white matter in your DS, for example, it just confirms what you already knew - he's autistic. Even if there was a sign of a former bleed, I don't see how that would stop your DS from being autistic or change the methods used to support him? I just don't really get it.

[ilikemysleep]

I mean...as I don't think I am making myself very clear - we see a higher proportion of kids who as newborns or very young babies had a serious illness such as meningitis. So one might guess that their autism was caused by the brain injury they suffered then. But they are still autistic and the methods sued to support them are still the same...whatever caused the autism...

[ilikemysleep]

used not sued

[Sneezecakesmama]

As an ex-NHS insider......pester the secretary, DS is still under the consultant unless discharged...that's your cover story worth a go.

Likemysleep it's a very good point that brain scans are useless for ASD and even cerebral palsy. If a baby has a traumatic delivery and goes on to develop CP a scan alters nothing, changes no therapies and stresses the child. Even identifying the area of damage and extent of injury is irrelevant as sometimes severe injury shows in a mildly affected child and vice versa. The only relevance is if a tumour etc is suspected.

Once it's been done though a thorough debrief is only fair.

[phoebus]

These latest points ilikemysleep and sneezecakesmama, are completely valid - I agree that generally, MRI scans for autism alone are not in themselves advisable or desirable, as they do stress the child, and whatever the results may be, they may well not change the treatment outcomes at all and cannot offer hope or prospect of a 'cure' (unless they show up something unexpected eg. a tumour). However, what could be relevant one day is that, once the new research is fully tested, it could - speaking from experience - save years of uncertainty and cost (and indeed stress) in going round all the different specialists (paediatricians, OT, EP, SALT etc) trying to get a dx, as the new science might be able to give a 'hard' answer in a few minutes, rather than years. We also felt we owed it to our DS to try to find a clear answer as his AS is borderline and not typical. After all it's his dx and he will have to live with it his whole life: we might as well be as sure as we can be as to exactly what it is....

We had strong reasons for requesting the MRI, it wasn't just a whim. DS had had a traumatic head injury by accident when very young and we wanted to know if that was an underlying issue. Also as he'd had a hugely poorly managed, prolonged birth with complications, and needed SCBU for days afterwards, there was also a possibility of future negligence litigation depending on the findings. So in our case the MRI was necessary. It's not something I would advise most parents to go for without very good reason.

[Sneezecakesmama]

Phoebus. I wasn't commenting on individual cases, just saying generally scans and investigations don't achieve much. I know of a couple of mums with CP children who don't push for MRIs as it won't change anything. They did not have any issues re negligence or injury (prem births) so your choice imo was quite right.

Head injuries especially if severe can cause lasting personality changes. I did read some article which showed it was often the case with HIs. After all severe head injuries cause physical swelling of the brain which in definitely not a good thing. Also newborns with prolonged low blood sugar can suffer brain injury and illness may affect blood sugar.

If MRI imaging improves (which it no doubt will) then it makes sense to look for recurring anomalies linked with ASD

[phoebus]

Hi it's good to air and explore all these questions, imo. I am all for lots more research and funding into ASD as it is such a life-impacting condition for everyone who is touched by it, especially when it's severe.

Also there is apparently a significant increase in occurrence of it nowadays, for whatever reasons (see thought-provoking article 'The Geek Syndrome' on this website (hope this link works): //www.wired.com/wired/archive/9.12/aspergers_pr.html

[sneezecakesmum]

Probably right. Einstein probably had AS!

[phoebus]

Yes, it's a condition that can also bestow extraordinary gifts on some individuals - as I'm always telling DS! I've given him the book by Jennifer Elder, 'Different Like Me - My book of autism heroes' which is very encouraging and highlights the fact that it isn't all bad, and different isn't necessarily 'worse'. Some well-known examples in there.......