Paed appointment today, discussing fragile x and autism - help!!

[Kelly1978]

after four multidisciplinary sessions ds finally saw the paediatrician today. I feel so relieved that she really understood where I was coming from and they do think he has sn. Though part of me feels that he does have a problem and it isn't just my imagination.

Now they are now struggling to identify what he has got. They are testign for hearing, chromosomes and fragile x. Also epilepsy, as he has blanked out periods, but the paed agrees with me that this is more than likely behavourial. He does have a lot of autisitic traits. The difficulty is that he doesn't have all of them - he uses gesture and he has good eye contact. So they are not sure what to think. Is it possible to have autism but not all of the traits?
The paed is asking me what I think and I don't know what to say or to push for, though I'd like to push for a definate dx of some kind in the hope that it will be easier to get help for him. we have to go back in a few weeks for a onclusion meeting, and the test results wont be back in time neither.

sorry if it doesn't make much sense - my head is spinning!

Hi Kelly 1978,

With regards to the tests, unfortunately they have to do this as a formality to rule out any problems.

My ds has had every test under the sun and everything has come back normal, so he has now been referred to see the genetisists to see if they can come up with a DX for his problems.

What specific problems does your Ds have and how old is he??

Butty.xxx

kelly, yes it is possible to have autism but not display all of the traits, my DS has been refused a dx of ASD as he is not displaying all the traits that they need to tick the box, however thats a different story.

he's quite hard to explain.. He doesn't think for himself, he can sit and stare into space for literally hours. I have to tell him to do things. He hates change. When we moved he spent a lot of time starign into space and then started pooing in his pants. He likes to be told everythign in advance. He shows v little emotion - isn't affectionate at all, dislikes cuddles. Doesn'tg et angry or jealous. Gets obsessive about certain things, and very little concept of right or wrong.

He does not interact with others, prefers to play alone and ignores others. If someone talks to him in a shop for example, he will hide. If palygroup os too much he will take himself off an hide in the toilets or a storeroom. His speech was slow to develop, but is getting there.
He is so well behaved - always does exactly what he is told. He takes things literally too, needs to be told directly, doesn't understand otherwise. If I say you've left the door open, I get a blank look - I have to tell him to shut it.

He did pretty well ont he tests so we've realised he can do a lot of things and is bright, it is his social problems which cause him difficulty. He seems to be very good with numbers.

I dont really know what to say, as sounds very similar to aspergers but with out the violence if you know what i mean??

What does he react like to being out of routine??

It may be worth mentioning to the pead about aspergers or definately what you think about the autism.

My ds does not have autism, although as he is getting older he does have a few traits that have recently been mentioned by his SN teacher.

At the end of the day, it is what you say as a mother who spends most of the time with ds, that is important.

Butty.xxx

I did mention that he seems to have more of the traits of aspergers than autism, but she started on about a scale and if he is on that then it is autism. I'm not quite sure what she meant by that! She seems to be treating them both as the same thing. If his routine is really out then he does his blanking out thing, staring into space and being totally unresponsive. He particularly likes toilets for this, or a certain spot in his bedroom. Sometimes it will pass, sometimes all I an do is leave him to it.

Aspergers is a form of autism, and by scale, she means on the autistic spectrum.

Their are quite a few things that are on the autistic spectrum, including ADHD, conductive disorder etc.....

I think the best thing you can do would be to speak to some others on the SN board as a few with knowledge of AS and different aspects.

I only know limited info as best friends brother has aspergers, and have known him since birth so i have seen some of his tendencies although i can add that he is a very intellegent young man, and is actually fairly able to cope at the mainstream highschool of which he attends.

Home is his main problem.

Butty.xxx

Each child with autism is so different that it can be difficult to say that an autistic child will always be/do X/Y/Z. My 2 boys are both on the high-functioning end of the spectrum but are both very different. Ds2 can be pretty sociable on his own terms and can also have very good eye contact. Ds1 at the same age was much more withdrawn but now can be very sociable with no obvious lack of eye contact.

I know that in a lot of areas children are automatically tested for Fragile X when being assessed for autism etc. It's usually just to rule it out rather than because the Paed thinks the child actually has Fragile X.

Lots of Paeds will also talk about Aspergers and High-Functioning Autism as being pretty much the same thing and all part of the same spectrum. Confusingly others see them as being two separate things. Ds1 has a dx of HFA but would now probably be classed as having AS. Ds2 has a dx of AS but is generally referred to as being autistic.

And not all AS kids are violent (although mine is sadly)- in fact they are usually law abiding to the extreme. The violent ones (IME and IMO only) tend to be either those whose abilities in others areas are preventingt hem achieving =frustration, or those who would be volatile anyway but lack the insight to deal with it.

Kelly1978 please please take a look at this site read every bit of it, it has changed my son's life compltely, he was from everything you have explained exactly the same as your son, i'm so glad i found this place, there should be a centre near you, i recommend that you take a look at the site then give your local centre a call and ask any questions you may have, it will cost you because it is privately run, but take my word it has worked wonders for my son, i cannot beleive the change in him, my son had so many problems, no confidence,huge learning difficulties he was a fussy eater, very forgetful didn't like change ,clumbsey didn't like anything that was too energetic you could almost say lazy yet he is the most plasid person you could ever meet he was never naughty or outspoken although at times i wished he was, but that was all to do with his lazy unworking cerebellum(small thinking brain) but now through doing a couple of exercises (talored for him)everyday he has showed huge inprovement the centre was also featured on thismorning a few weeks ago.it's such a simple answer to such a huge problem and it really works. www.ddat.co.uk

There's a few places like that- BIBIC is a similar concept and we go there. But you still need to have a dx from the Paediatricain and they are notorious for dismissing anything they don't discover themselves.

What I would say, is that remember the dx doesn't change your son. it's only a descrition, and although (I am a guilty person!) it's easy to get wrapped up in this, it's not everything, just feels like it. So somewhere like www.bibic.org.uk or the other one may help you develop a deeper understanding but that's about it.

There's a thing called proximal zone of development which is how far a child can develop within their own sphere of ability. No clinic or treatment is likely to be able to take your son beyond that.

PeachyClair that is true but what if like mine her son is well below his ability then surely my son is living proof that a centre/non medical treatment can work wonders, and he would still be the same now if we hadn't got the help for him.

Oh yes, not arguing with that- mine goes to BIBIC which ahs the same excercise regime / general philosophy. It's just that I know of some people expecting miracles from these things, that's all.

Personally I would shout BIBIC from the hilltops to all who would listen and often do

Thank you for the links, I've had a quick look. perfumelady, my ds is nearly 4, so still too young for that, but it might be worth remembering, thanks. I so know what you mean about almost wihing for naughtiness!

BIBIC sounds a bit like where he is going to now. but better. He is seeing a multi-professional team at a charity funded childrens center and has been doing play sessions for assessment. Following the consolidation appointment they will sort out a care plan for him to meet whatever needs he has. There are groups run there for children with sn which I feel he could really benefit from as he enjoys it there so much and seems happier and more importantly it gives him confidence. It's frustrating because he is bright, but he struggles with expressing himself and seems so cut off from everything. It's painful to watch really.

Maybe it owuld be worth getting the BIBIc pack sent to you- it's not stand alone, they work with whatever other organsisation is working with you and they can help with funding?

The wishing for naughtiness- sounds like As as many people see it, although my lad AS /HFA and constantly naughty. they vary so much within one dx don't they?

Kelly1978, yes it is possible to have autism or ASD without all the traits. Also different doctors appear to view this differently, so I've found out with my own ds.
All children are different and can react in different ways but the social difficulties are a trait in all children on the ASD.

Fragile x , My sister taught a child with this, there is a real difference in behaviour,can be very difficult to manage and they usually have definate features. larsxx

I have requested the bibic pack, thanks pc.

ds does have soem of the features of fragile x, and the pead does seem to think it is a def possibility. I wouldn't describe ds as difficult to manage though, he is far too placid for that. Could you ecplain more? Ds is only hard work in the way that he is away with the faries most of the time.

I'm becoming more and more convinced he is autistic, but I might struggle with gettign a dx because he doesn't show all the features, although the paed has said he has a LOT of strongly autistic features.

Kelly1978, From what your describing I would think more on the ASD. Fragile x, tend to change personalities, can be very aggressive towards other and the parents who had the child my sister taught were in tears all the time as the child's behaviour was very irratic and he would stare at you and could be seen as frightening to others and would harm others. It was like a personality change and he couldn't control it. The slightest thing could change him. He was taught in a Special school in the end as the main stream school just couldn't cope as he bit a child's ear, last straw for the school. Very sad indeed. i'm not sure if there are different degrees of fragile x. larsxx

I've been trying to read more. It is so confusing, but I think I agree with you and it isnt that.

It's so difficult - never planned to try and work it out myself what he may or may not have. I deliberately avoided reading up on things because I thought I would just get paranoid. I assumed the paediatrician would tell ME what was going on, not ask me what I think it is. I reckon I must have a wierd paed.

Fragile X can vary enormously from one person to the next, and it's definitely not always as bad as that. The mutation is a change in length of a piece of DNA, and the exact length that a child has will vary, and so will the symptoms. It changes a bit from one cell to another too, even more confusingly. Basically, you just can't extrapolate from one individual to another. Having said all that, they are probably just testing in order to rule it out, as they tend to do with diagnoses of autism. I have the next meeting goes well and you get some answers.

kelly1978, maybe tantrum could explain some of the behaviours in a child not severve as the one I mentioned.

To be honest in my own experience I have met a few doctors that haven't given the correct diagnoisis. Information is a great source and can help and I would recommend that you read as much as possible after all you know your child best.
I used to be like you and let the doctors decide ' as they know best', but I'm afraid to so say they don't always get it right.
It is about having the information availabe that you can read and understand the difference between different conditions. larsxx

I think that Paeds tend to ask what you think the problem could be as a means of deciding how to proceed. At the end of ds1's first appointment with the Paed she asked if we had any ideas about what was causing ds1's difficulties. By that time we were fairly sure it was autism and said so. The Paed said that although ds1 still needed a full assessment she agreed with us. Presumably if we'd said we had no idea she would have either waited until after the assessment to give a dx or would have tried to break the news gently.

Of course a lot will depend on the individual Paed.

mm, I'm going to have to do some more reading. Thanks for that info tamum, that helps to clarify things a bit.

ct, I was expecting her to tell me more as this was after nearly ten hours of him being assessed. How long does a full assessment take?

Kelly1978, It does seem long, but is this several visits of assessments? I think maybe she is not sure and wants to take her time. But the waiting time for the report can sometime take time.My ds had his assessments done in December received report in early March, a long time when you are waiting. larsxx

They still didn't say after 10 hours of assessments?? No wonder you're annoyed!

The assessment procedure varies depending on where you are but here the system is:

• Initial visit to the Paed at the CDC to see if an assessment is needed.

• The multi-disciplinary assessments are carried out during one week (Mon-Thurs). There are usually 3 or 4 appointments lasting about an hour each. Some of the staff do theirs jointly, eg the SALT and Psych may take turns observing while the other asks questions. On the Friday a case conference is held where everyone involved gets together to give their findings. The Paed gives their opinion/dx.

There is usually a wait of about 4 months or so between the initial appointment and the full assessment but altogether the process will probably only take 5 or 6 hours. Some of the CDC staff may carry out observations at home or pre-school before the assessment week so that they can see the child in his/her usual environment.