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CASE NOTES
Tuesday 1 June 2004, 9.00-9.30pm
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BRITISH BROADCASTING CORPORATION
RADIO SCIENCE UNIT

CASE NOTES 9. - Autism

RADIO 4

TUESDAY 01/06/04 2100-2130

PRESENTER: MARK PORTER

REPORTER: TRISHA MACNAIR

CONTRIBUTORS:

JAMIE NICHOLLS
JUDY GOULD
PATRICIA HOWLIN
SIMON BARON-COHEN

PRODUCER: HELEN SHARP


PORTER
Today's programme is all about autism. Forty years ago studies put the prevalence of autism in the UK at around 1 per 1000 of the population. More recent research however, suggests that today's figure is closer to 1 in 100 - that's a ten fold increase - but are we comparing like with like?

Part of the increase is undoubtedly due to more cases being picked up through better awareness - among parents, doctors and teachers - and the fact that we are now casting our diagnostic net much wider. These days doctors talk about a spectrum of autistic disorders which includes far milder forms of disability than those documented in the original studies done in the sixties. But that's not the whole story.

I'll be finding out what other factors could be responsible, and why it's so much more common in boys. As well as discovering what it's like to live with a child with autism.

CLIP
When Robert was first diagnosed he had almost no eye contact at all, he had very little language, he had no imagination skills, he didn't really know he was on this planet, he was almost like a wild animal. He actually spent a lot of his time naked - I've just remembered that.

PORTER
And I'll be finding out what can be done to help.

My guest today is Dr Jamie Nicholls, a GP from Essex whose 24-year-old son, Andrew, has autism.

Jamie, let's start off by explaining what autism is?

NICHOLLS
Very difficult to explain in a very short space of time, in fact there was a competition a few years ago by the Autistic Society to try and get somebody to do a hundred word definition and nobody applied for the competition. But I like to try and think of it as if you've lost one of your senses, we all know losing one's sense of hearing, smell, taste and things like that but this is the sense of communication, the sense of being able to converse not just by language but including body language, movement, picking up on all the different signals that we all use. And it's that, that really people with autism have a problem with.

PORTER
I probably mentioned there, in the introduction, that there are varying degrees of the condition, can you perhaps give us some of the extreme examples?

NICHOLLS
Well very extreme - the typical, what we call Kanner Type autism, which were the original ones done in the trial work right back in the 1940s and written up by Kanner. And were really not described very much until the literature in the 1960s. These were very aloof children, maybe very lacking in speech or certainly in communicative speech - they didn't get across things to other people. But also they seemed to have ritualistic behaviours, they lacked imagination. What we're realising now is whilst that group still exists there are an awful lot of people who have a degree of handicap which might look more mild from the surface but maybe fit in better with us in with what we like to call "normal society" but still have great difficulties. There was an article in the paper about Michael Angelo, we learn on the television that Newton, all those years ago, was probably autistic, that Einstein was probably autistic or had - was certainly on the autistic spectrum.

PORTER
So these are people who can function in society but there's something different about them - they tend to be loners perhaps.

NICHOLLS
They are, that's the problem, they might be very, very good at what they do well but their problem is the social side - they don't fit in, they don't know how to make relationships and therefore they probably make very good boffins.

PORTER
Why do you think it's become so much more common these days - we talked about the two factors - better awareness and perhaps we're picking it up more - what else is going on?

NICHOLLS
I'm not sure that the actual condition itself is more common, I think we're just that much better at picking it up.

PORTER
What about the MMR?

NICHOLLS
I like to nail my colours firmly to the mast on that one - I do not believe that MMR vaccine is responsible for the huge majority of cases of autism, I think I'm supported in that by countless studies that have been done over several decades in several different countries all around the world, all of which have consistently failed to show any link between the two.

PORTER
Had your son Andrew had the MMR?

NICHOLLS
No my son didn't have the MMR but not because of any other reason than it wasn't invented when he was a little baby. There was single component measles vaccine and he did have that - so he had single component measles vaccine. My younger son, Tim, had MMR vaccine and he's not autistic. So could you read into that MMR is protective against autism? Well you can prove anything with statistics.

PORTER
Well Anna noticed there was something unusual about her son Robert fairly early on.

ANNA
When he was about - coming up for his second birthday he started to have the most incredible tantrums, I mean I often watch children having tantrums out and about and I think I've seen bigger than that, I mean they really were, I would call them Oscar winning. He would do things like smash all the glass in the house - he smashed plate glass windows, threw toys through them and he got to a stage where we had to put anything glass away because we worried that he would smash it. He would scream for anything up to two or three hours at a time. He would bite you. Robert used to do things like if you he didn't like somebody not only would he hit them but he sometimes would urinate on them, I mean it was really quite extreme behaviour.

PORTER
More from Anna later. Judy Gould is Director of the Centre for Social and Communication Disorders in South East London, I asked her what typically first concerns a parent whose child has undiagnosed autism.

GOULD
Well it really does depend on the age of the child, if we're talking about little ones - toddlers around about 18 months two years - I think the thing that stands out is that they're not interacting with other children. If they're in nursery the child is sitting on the mat with his back to the rest of the group or if another child came and took the favourite toy then they would actually get very angry and might actually hit out at another child.

PORTER
Because as a GP I often get parents coming in, they say there's something different about him.

GOULD
Yes, yes. And I think you've always got to listen to that. And it's because they compare their children with their friends' children and I think that really from very early on they do notice there's something - perhaps they can't quite put their finger on it but there's something that's different about their child. It is mostly to do with the social interaction - that is the key to it really.

PORTER
And what sort of age are we talking about?

GOULD
We're talking about toddler age now, between 18 months and two years or maybe even a little earlier than that.

PORTER
So they come in and see somebody like me, presumably, because the parent will go to the GP first of all, I then refer on - what's the ideal pathway, who can make the diagnosis of autism?

GOULD
Well the first thing is you've got to be sympathetic and listen to what the parents are saying and recognise that it has to be somebody with expertise to make the diagnosis, so it is a question of referring on, usually to the child development centre where hopefully there will be a team of experts who'll be working and assessing the child and the family. So it's not just one person, it is actually perhaps the paediatrician, the speech and language therapist, the OT maybe - that's occupational therapy - a whole range of professionals will be working.

PORTER
Because there are lots of other reasons why a child won't interact …

GOULD
Absolutely, yes.

PORTER
… my sister was born deaf and that was one of the things that we noticed with her first of all.

GOULD
Yes, exactly yes, it is complicated and that's why you really need to see an expert.

PORTER
There's no test, are there, there's no definitive test.

GOULD
There's no medical test, it has to be on taking of good developmental history and observing the behaviour, of course, of the child. Those two things together - that's how you make the diagnosis.

PORTER
How long do you think it normally takes - I'm not saying how long should it take but how long does it normally take from when parents notice there's a problem until they get the answer?

GOULD
It varies unfortunately, if you get through the system with sympathetic people who are picking up that there are problems and that could go through reasonably quickly but for a lot of families there's a very long wait from that initial contact with the GP to actually seeing people who are understood to have …

PORTER
And by a long wait you mean?

GOULD
Sometimes up to a year, two years, there are waiting lists now within the child development centres where people have been trained and are actually good at diagnosing but they have long waiting lists.

PORTER
So what happens when the parent or parents are given this label, effectively they've said your child has autism, what's the next step?

GOULD
Well that's the first stage in the long journey for them, the very important first stage of course because without that you're not going to get anywhere.

PORTER
But if I've got a two-year-old at home I mean do people come into my house, is my two-year-old going to a special school at this stage or what's happening?

GOULD
Well there are - there are lots of different options. I mean there are early bird programmes that the National Autistic Society runs, so once the child has a diagnosis then parents can actually join a special group with other parents to understand what this means, having this particular condition.

PORTER
And is that provided free?

GOULD
Yes it is within the National Autistic Society, it's one of the programmes they offer.

PORTER
And what's the NHS offering at this stage?

GOULD
Certainly attached to clinics there will be ongoing support for parents. Again it's very ad hoc. If you've got some enthusiastic people who really want to follow through post diagnosis then that's the ideal.

PORTER
But you could be left really on your own with the National Autistic Society self help groups.

GOULD
You could be, yeah, you could be.

PORTER
You mentioned that obviously the first telltale signs depend very much on the age of the child, because we might not be talking about a child might we?

GOULD
No indeed, I know, we're absolutely not. Autistic is a lifelong condition and certainly the people we see in our centre now are adolescents or young adults who've never been diagnosed.

PORTER
Slipped through the net because we're quite good at picking it up now but that wasn't always the case.

GOULD
No indeed. And also we're still not very good at picking up the subtle cases.

PORTER
And how might they present later in life?

GOULD
Well they'll present where they might have gone through school, they're often bullied, very badly bullied and teased, they want friends but have got it wrong, perhaps they haven't caused difficulties in school but can be very different at home and being very difficult at home but in school they manage to keep themselves under some sort of control. And so they end up often with high anxiety levels, sometimes depression, sometimes suicidal and that's when they then come to somebody like yourself - the GP - with that sort of symptom.

PORTER
Judy Gould from the Centre for Social and Communication Disorders.

You are listening to Case Notes, I'm Dr Mark Porter and I am discussing autism with my guest Dr Jamie Nicholls.

Jamie, Judy mentioned there that a significant number of people with autism slip through the net, presumably these are people - what I would call the milder end of the spectrum, I know that's not a term you like, but people like Michael Angelo and the Einsteins.

NICHOLLS
I refer to higher functioning because obviously they have managed to get through education, not being picked up, but they usually encounter a lot of problems on the way and they don't like the word "mild" being used because the more you're aware of the fact that you've got a handicap that you are the more serious it is to you. So I prefer higher functioning - it's a complimentary term rather than a derogatory term.

PORTER
Is it too late to help them?

NICHOLLS
Certainly not, no and one of the things that the Asperger network and the National Autistic Society is trying to promote nowadays are the local groups for people particularly with Asperger syndrome, recognising that it's the sort of condition where people can help each other but of course it's very difficult for the people to make the first contact because by the very nature of the fact that it's a social disorder they don't really want to mix in social groups. And sometimes it's a little bit like herding sheep or knitting fog trying to persuade people to get involved in that but certainly those who are involved I think gain greatly from it and eventually it helps them to fit into again what we call the "normal society".

PORTER
To whom should I, as a GP, be referring suspected cases of autism?

NICHOLLS
Well hopefully, as Judy referred to beforehand, every area should have a referral pathway, somebody to whom every GP would know to refer. And there is a national autism plan for children, which has been written and it's been out now for over a year, although it doesn't at the moment have any teeth, it's hoped that it's going to become part of a national service framework in children and a national service framework does come with teeth - i.e. local authorities have to provide, health authorities have to provide certain things. And we're hoping that there will be a whole network within each area so that not everybody has to go to a specialist centre, the expertise will exist locally. And there are areas around the country which have got a splendid service, it's just that we want every area to be the same as that.

PORTER
Well thank you for now Jamie, talking of help, let's rejoin Anna and her son Robert to find out what sort of therapies are available to help children with autism. Trisha MacNair reports.

ACTUALITY
I'd like something to eat please.

What would you like?

Err, I'd like a sandwich please.

What sort of sandwich would you like? Shall I give you a choice …

MACNAIR
I'm in Anna's kitchen where Robert has just come home from school hungry for tea. He's come a long way since he was a toddler. At that time, when Robert was about two and three quarters, he was having terrible tantrums, could say very few words and didn't seem to understand what the family said to him. He had a hearing test, which was normal, so Anna took him to a speech therapist.

ANNA
By this time I had started to look up things on the internet and I actually came across the word myself at that stage - autism - and it really seemed to fit. So at the speech therapy assessment, where Robert spent most of the time screaming under the table, I actually said to the speech therapist could this be autism, she then said - well there are many things that we have to consider. And being a health professional myself I thought - he's got autism, she just can't say it. At that stage my world fell apart, suddenly the child that I had the day before the assessment was no longer the child that I was faced with at home, I really didn't even know where to start. You type autism into the internet and you get thousands and thousands and thousands of hits, everybody saying that their therapy is better than somebody else's therapy and there's mineral supplements and diets, brushing and you just think well where on earth can I start.

MACNAIR
Many parents, confronting the diagnosis of autism for the first time, feel overwhelmed by the range of different treatments on offer. But is there any real evidence that any particular therapy can make a difference?

Patricia Howlin is Professor of Clinical Psychology at St George's Hospital Medical School in London.

HOWLIN
There are an awful lot of claims out there for all sorts of things that claim to "cure" autism, cure in inverted commas, from cranial osteopathy to swimming with dolphins, to vitamins and diet. Parents are very vulnerable to claims of this kind and one of the problems is there is very little evidence to suggest which treatments they should try and which they shouldn't. The evidence is best for good educational programmes and programmes that involve behavioural types of approaches, that, to put it simply, reinforcing, rewarding behaviours that you want to build up, taking away, reinforcements for behaviours that you want to diminish.

MACNAIR
Some programmes have made particular claims in terms of improving specific skills or reducing behavioural problems. So what do these programmes involve?

HOWLIN
The most intensive and I guess the most expensive of those is the Lovaas spaced applied behaviour analysis programmes and there you're talking about 40 hours a week in therapy, eight hours a day, starting at the age of two. Which of course imposes a great deal on parents, both in terms of their time and energy and money as well of course, because it doesn't come for free.

MACNAIR
Anna and her husband went on a number of courses looking at different types of therapy before deciding to invest their time and effort into any particular one.

ANNA
What I felt was that each of the courses I could get useful information out of but I liked bits of all of them but what seemed to come out very strongly is one-to-one was what really benefited these children and the earlier you started the better.

MACNAIR
So there's a pressure to start some sort of therapy but it can be difficult to choose which one, especially as little research has been done to pinpoint the exact benefits of any of them. What concrete evidence is there, for example, that a very intensive programme such as the Lovaas programme, will help a child cope with normal life?

HOWLIN
One has to say there is some evidence for the effectiveness of this treatment but it's still quite limited, it's really only based on groups of 19, 20 children and about 40% of that group did well, it still leaves 60% who didn't. So there is a bit of evidence but it's not really as strong as one would like, it's just there's so little evidence for anything else that at least it's better than nothing I guess.

MACNAIR
Anna felt that the priority for Robert was to develop his language skills but, with a two year waiting list for speech therapy in their borough, Bromley, south of London, Anna knew that somehow, she and her family would have to get on and help Robert themselves.

ANNA
We decided to go for a sort of a play focused therapy. The therapy actually started by saying - okay just do what your child does, so if he spins you spin, if he flaps you flap, just as a means of saying - I want to be with you so much that even though you don't understand my world, even though you don't perhaps understand language, I want to be with you so much I want to do what you do, more than what I want to do. So I thought okay, let's have a go. So there I was flapping and spinning and my husband was standing at the door thinking - well she's clearly just lost her marbles. But within about 10 days of doing this with him he suddenly stopped, looked at me straight in the eyes, which he didn't have very good eye contact with me, he didn't really know I was his mother, I was just an object which brought him food. But on this occasion he stopped and he looked at me with a real look of - my goodness there is somebody in my world and they like to do what I like to do.

MACNAIR
To carry out Robert's therapy, Anna had to turn a room at her mother's house into a playroom. This room, plain and fairly empty, helped cut out distractions and focus on the thing that Robert found hardest - interacting with another person and developing his language skills. In the room, on a high shelf, there were a variety of toys, out of Robert's reach.

ANNA
Because I knew him very well I would know that what he wanted was Thomas. So even though he wasn't saying the word Thomas I knew he wanted it. So he would pull me over and make a noise - you know merrrrrr - and I would know that would mean - I want Thomas - but then I would become stupid and I would say - okay what is it you want? I really want to help you - is it a ball? And he would get really cross because he would know that I knew what he wanted. So I go - Is it the ball? And he'd go - errrrrr - no not the ball, is it the scarf - merrrr - okay not the scarf. Ah is it Thomas? And then I would give him Thomas and say - Next time you could say 'Thomas'. And each time he did that he would then - very slowly he started to realise - my goodness well using language, using words is really useful to me because if I just make a noise like I used to before she's not getting me what I want.

MACNAIR
Anna would spend about six hours a day in the playroom with Robert, day after day, slowly building up his vocabulary. But few parents can make this sort of commitment and Anna herself found that after about six months, exhaustion and stress forced her to recruit volunteers to help her.

HOWLIN
Many parents feel they couldn't cope with such an intensive programme and one has to say there isn't any evidence that interventions need to be that intensive to work in the longer term. The important thing about behavioural strategies is they can be adapted really to suit any family, any situation. Some people are able to use them more intensively than others but that's not necessary to have quite a major impact on the way the child behaves at home.

MACNAIR
Anna is convinced that the intervention has paid off for Robert. He's now coping, with help, at a mainstream school. So what does he enjoy doing?

ANNA
Why don't you tell Trisha about that great shark that you made?

ROBERT
Yes I made that at school. I made it out of a burger box.

MACNAIR
Wow, and did you paint it?

ROBERT
No I covered it with material.

ANNA
I mean really you would be hard pushed to pick him out of the classroom. He's quiet, he's polite, he does have tantrums but he now is so self-aware that he actually comes out of his tantrum very quickly, within a minute, which I can't believe I'm saying that when they used to last three hours, and then come straight to me and say - Oh I'm terribly sorry mummy, that didn't get me what I wanted did it. And I just every time he says it, it just makes me smile because I think that's just incredible.

PORTER
A proud Anna ending that report by Trisha MacNair.

Jamie, throughout the programme we've heard about long waiting lists, ad hoc services, depending on where you live, and not much evidence to back up many of the therapies on offer - it's all a bit depressing for someone who's just been told their child has autism or their grandchild has. And then along come Anna and Robert to show just how much can be done with a bit of self help really. I mean is that story - is Robert's story the exception or is it the rule?

NICHOLLS
No I think parents will find a way, parents are the greatest therapists that we've got, we've got lots of professionals that can help but I don't think anything beats good parenting. And with good parenting you can give lie to that you can't make a silk purse out of a sow's ear, you basically can get things. My own son Andrew didn't speak at all until he was 18, then he said his first word, which was pub. And now he has very, very limited speech but he's managing to use speech, he's now managing to work on a farm, he's gainfully employed there, he's getting involved in activities which I never dreamed he get involved in - like sailing, scuba diving - and it's a fulfilling life, he's happy, his needs are fairly simple but they're met and I'm proud of him, he's a happy, contented young man.

PORTER
Jamie Nicholls thank you very much.

Now one of the many mysteries surrounding autism is why it is so much more common in boys. Six weeks ago reports in the Press suggested that CambridgeUniversity's Professor Simon Baron-Cohen and his team had worked out why. They evidently had discovered that autistic type symptoms were more common in babies exposed to higher levels of the male hormone testosterone while in the womb, supporting the theory, according to the Daily Mail, that "autism is basically an extreme version of the male brain". The reports even went as far as to suggest that the work could soon lead to an antenatal screening test for autism. Well Professor Baron-Cohen joins me now from our Cambridge Studio. Professor how accurate were those press reports?

BARON-COHEN
Sadly those press reports were quite inaccurate. Obviously with any report they're based on some information but there have been exaggerations and misinformation.

PORTER
Well put the record right - what have you actually discovered?

BARON-COHEN
Well our research in Cambridge has been looking at the role that prenatal testosterone plays in development. And we've been looking at normally developing children and found that the higher the child's level of foetal testosterone - that's in the womb - the less eye contact the child makes at their first birthday and the slower they are to develop language at 18 months old. But these are studies of normally developing children, so we haven't yet shown any link between testosterone and autism.
PORTER
But I suppose that people are making a big jump aren't they - because both of those could be - in fact are - symptoms of autism and is that where the problems come - that people are putting two and two together and making five?

BARON-COHEN
That's right. I mean as scientists we're very careful not to go beyond the data or the evidence that we have. But the reports are absolutely right that we are testing the idea that children who later develop autism might have elevated levels of foetal testosterone.

PORTER
So could this explain why autism is more of a problem in boys, in men?

BARON-COHEN
Yeah, I mean one of the puzzles really is about why autism is much more common in males and hormonal explanations may be one possibility, other possibilities may include genetic factors and those two aren't mutually exclusive.

PORTER
What's the next stage in your research then, how can this be put to some form of practical use?

BARON-COHEN
Well our research is going on to test much larger samples than we've done so far. So in our current research all we've really tested is a small sample of children - about 70 - where you wouldn't really expect amongst a sample size of 70 to have any children with autism. But our ongoing research is testing 3,000 children, where we've been able to measure the foetal testosterone and now we're going to follow up to see which, if any, of those children have gone on to develop autism.

PORTER
So Professor what about these reports for an antenatal test for autism?

BARON-COHEN
Well it may be that research of this kind would lead to an antenatal test but our primary aim, at this stage, is just to understand the basic causes of the condition and we're not, at this stage, in a position to even consider that this could be used as an antenatal test.

PORTER
If it were to be introduced as an antenatal test is there anything that we could or would do about these levels of testosterone that the developing baby's exposed to?

BARON-COHEN
Well that becomes an ethical issue about whether to intervene or not and partly that may become a matter of parental choice. But certainly for many high functioning individuals with autism they wouldn't really want to be changed or cured in any way but they do want the relevant support. And so an early test might be able to trigger the relevant support at an earlier point.

PORTER
At the moment is it in theory physically possible to alter the levels of testosterone that the baby's exposed to?

BARON-COHEN
Well I should point out that it's not so much exposure, it's actually - what's being measured is the amount of testosterone the foetus is producing. So this isn't as a result of some environmental exposure, rather to do with intrinsic factors in the foetus.

PORTER
So all the testosterone is coming from the baby itself - what about the parent?

BARON-COHEN
Well the mother has her own testosterone but what it's thought that when you measure this hormone in the amniotic fluid it's largely foetal in origin.

PORTER
So Professor have you started the next stage of the trial already?

BARON-COHEN
We are now following up a much larger sample, we hope to have results within a year to see whether there is indeed any evidence of children who later develop autism having elevated levels of foetal testosterone.

PORTER
Professor Simon Baron-Cohen thank you very much. Well I'm afraid that's all we have time for, this is the last programme in the current series, we'll be back with a new series in August.

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