How do I communicate

This is a short episode which examines the outcome for Sophie who we met in Episode 12. Although her early development appeared to be on track, as she became older it became clear that she was developing difficulties with communication, not only in terms of her spoken language but also in terms of social understanding. It became clear that Sophie was very limited in her repertoire of play and restricted in her day to day routine.  This led her to being diagnosed with an autism spectrum disorder. The episode discusses the diagnosis and nature of autism and considers this as an alternative developmental route which is the accompaniment of a variety of problems, in Sophie's case her early onset severe epilepsy.

Transcript

So welcome back to Tales of a Children's Doctor. I promised you that we'd be meeting one of my colleagues this week but unfortunately, due to pressure of work, that hasn't yet happened, I thought it would be useful, therefore, to just add in an extra episode so that we could talk about a subject that quite a few of you have been in touch with me about. The question that you've asked is, "What is autism?". You'll know that we've mentioned that a few times over the course of the podcast so far and it seems reasonable at this point, just to spend a bit of time talking about that. I thought the simplest way of doing that would be to illustrate by discussing one of the patients that we've actually already met. You may remember that in Episode 12, we discussed Sophie. She was a girl with an early onset, severe form of epilepsy known as Dravet syndrome. We talked about how that had implications not only for her in terms of her epilepsy control, but in terms of development. And although I didn't really go into that in any detail in the episode, I think it's probably worth taking you through how Sophie progressed over the next little while. When I first met Sophie, she was doing very well. She was quite young and although she was having fairly regular seizures, her development appeared to be progressing reasonably well. That's of course, because early assessment of development really looks at motor development - How do children sit up? How do they begin to use their hands? How do they reach out for objects? Will they give back? - all those sorts of things. And it's only later in the first year and, certainly, into the second year that we start to look at some of the more complex developmental tasks that children acquire - tasks around language, around social understanding, and so on. I just want to mention Child Development at this point. Child Development is something that all paediatricians are aware of; it's not something specific to paediatric neurology. We recognise that the way that children develop and the way the brain develops follows a fairly stereotyped and consistent pattern. We can recognise milestones along the way and we actually use those milestones to plot how any individual child is developing. Any of you who have had children will recognise that you're probably seen by a health visitor at six weeks of age and they'll look at some very simple milestones that a six week old baby might be expected to have achieved. As a child gets older, these milestones become more complex, and the variability in terms of when they're acquired becomes greater. But, nevertheless, there is a pattern that we can recognise, that we can document and that we can assess. And it's this that we use when we're looking at any individual child's developmental progress. So if we think about Sophie in that regard, although she was doing quite well from a physical point of view - she started to hold her head up appropriately, she sat at appropriate time, she stood at an appropriate time, and indeed began to walk at an appropriate time - her parents started to become concerned about her just after her first birthday when she really wasn't saying any words at all. Now, that's not completely unusual. Some children just don't speak very much. But Sophie wasn't even saying mama or daddy. They also noticed that she wasn't as interested in them as they expected. She would tolerate having a cuddle and indeed seem to enjoy it. But the family noticed that she only really enjoyed a cuddle when she initiated it. If they went up to her and tried to cuddle her, she would push them away or squirm. However, if they were sitting in the chair, and she wanted a cuddle, she would often come up to them and snuggle into them. Over time, these differences became increasingly apparent. Sophie didn't acquire any spoken language. She didn't speak to anybody in the family, she didn't use any words and she didn't really seem to use language to demonstrate what she wanted. If she was hungry, she would walk to the fridge. If she wanted to play with a toy, she would go and get it herself. She never asked for things. What her parents also noticed was that she didn't really play with toys. Yes, she would take toys and she would explore them. But she didn't really play with them in a in an understanding sort of way. She certainly showed no interest in dolls, other than to see how the arms and legs came on and came off. She would sit with a doll and remove its arms and then put them back together again.

She was also interested in cars, but again, she didn't really play with the cars. She would sit and spin the wheels, or she'd sometimes get a whole series of cars and line them up in a very neat and organised fashion. She did have a garage because the family thought she might play with cars in that context. But she didn't really drive the cars into the garage and pretend to have them serviced. What she would do is put one car in front of another leading up to the garage. She also showed a bit of an interest in trains. but again, it was much more around spinning the wheels, and about lining up the train tracks than it was about pretending to play with her trains. As she became older, the family noticed that she was quite restricted in what she wanted to eat. They noticed that she didn't like certain types of food. Now, lots of children don't like certain types of food, but Sophie was particularly stringent about that. She was also quite strict about the fact that food couldn't touch each other on the plate. So, for example, if she had chicken nuggets, which was her favourite, and the family had put potatoes or potato chips out, if the chips or the potatoes touched the chicken nuggets, she would eat neither of them. This led to quite significant problems with her weight gain and in fact, the family ended up giving her only things that she liked because she wouldn't take what she was offered. Eventually, Sophie was formally assessed and given a diagnosis of an autism spectrum disorder. This is an important diagnosis and, although Sophie's progress in that diagnosis is fairly typical, it's not the only way that children with autism will develop. And I think it'd be useful at this point now to think about what actually Autism is. Nowadays, we speak of autism spectrum disorders. In the past, there were multiple diagnoses that came under the umbrella including infantile autism, Asperger's Syndrome, childhood disintegrative disorder, and so on. Nowadays, we recognise that there's a spectrum of problems that a person with autism may face. And so we talk of an autism spectrum disorder. There are two really key elements to a diagnosis of an autism spectrum disorder. The first is a persistent difficulty with social interaction and social communication. Now that includes a number of different elements itself. It may range from the child who really doesn't understand or initiate any type of social interaction at all, who seems completely cut off, all the way to a person who perhaps just doesn't really understand interactive conversation, can't understand the to and fro of social conversation, perhaps doesn't share another's interests or understand their emotions. The other part of this is a difficulty in in nonverbal communication and that can range really from a complete lack of facial expression, a lack of any kind of nonverbal communication, all the way through to, at the mildest end, poor integration between verbal and nonverbal communication, an inability perhaps to maintain good eye contact, or poor body language or inability to understand other's body language. The third part of this area is his difficulties in maintaining and understanding relationships. So, again, there's a range and that can be all the way from a complete lack of understanding and lack of interest in other people all the way through to really not being able to sustain a relationship. Yes, an interest in other people, but not really able to understand what another person feels, to the extent that those sort of social interactive relationships become very difficult. The second key element of a diagnosis of an autism spectrum disorder is what's called restricted or repetitive behaviours. And again, there are a range of different problems that may occur in this situation. Some children or indeed, adults may have very stereotyped or very repetitive behaviours. You often hear of children with autism, hand flapping, and that can certainly be a behaviour that occurs in that situation although of course, it doesn't only happen in children with autism. They may have quite sophisticated or complex stereotyped behaviours that occur; they may repeat, so have what we call echolalia. They may have quite idiosyncratic phraseology and so on.

There's also sometimes an insistence or an adherence to very fixed routines. And that can be routines, for example, with eating, as we saw with Sophie, where a child may not be able to cope with having more than one food on a plate at the same time, or may not be able to cope with a particular type of food or may not be able to eat unless that's at a specific time in the day. They may need to have a very fixed routine about what they do before they go to bed at night. So again, there's this very restricted and very repetitive pattern of behaviour. The other part of this is the interest. So people may have very, very strikingly fixed interests. Typically people talk about people who have fixated on trains, but other fixed interests may occur. For example, people are well aware that Greta Thunberg, who has Asperger's Syndrome, is very, very focused on environmental issues, to the extent that that consumes her. And that would be within those areas. So it can be quite functional, and yet be very restricted. Of course, her autism isn't the only reason that Greta Thunberg is so passionate about environmental issues, but she has herself recognised that it allows her to see the world in stark terms, and therefore, I think provides her with that additional emphasis around this issue. The other part that goes in this area is the issues that occur in terms of sensory stimulation. So some people with autism are very, very sensitive to certain sensory stimuli that can range from excessive fear of certain types of auditory stimuli - some people may struggle in social situations, not just because of the social situation, but because of the noise. And for some people with autism, the noise may not just be unpleasant, it may be actually physically distressing. There is evidence that some people with autism may experience physical pain on haircutting. Some people may have difficulties with certain textures. So some children, for example, can't cope with walking on the beach, because they don't like the feeling of sand on their feet, or may not cope with being able to walk on grass because they don't like the feeling of grass on their feet. That may make it difficult with certain clothing, and so on. Similar problems may occur with visual stimuli as well and some people may be very fixed on certain visual stimuli; they may be focused on looking at lights, for example, or they may like patterns or particularly complex patterns. So there's a range of different things that occur there. Now, those are the two kind of key elements of a diagnosis of autism. But there are another couple of things that are important. Firstly, this is a developmental problem. So it's a difference about how the brain develops. And as such it presents in early life. Now it may not be evident in early life, it may not be evident until the social skills that are being used, become obviously lacking. So, for example, a child who has a mild level of autism may not exhibit really obvious difficulties until they get into very sophisticated social situations, such as when they get to nursery or even into school. But at the other end, it may be very evident from very early on indeed. The only thing that is important about this is that these symptoms can't just be present, they must be clinically significant. In other words, they must cause a problem for the individual. Otherwise, we wouldn't make a diagnosis of an autism spectrum disorder. And indeed, we would probably recognise autistic features in a vast array of the general population who cope very, very well indeed. Autism itself, while a diagnosis in its own right, often comes with other things. So we know that many young people with autism and adults indeed with autism may have associated intellectual disability, they may have other physical difficulties, they may have problems with balance and coordination. It's certainly something that goes very commonly with epilepsy. And many people with autism will have epilepsy, as will many people with epilepsy have autism. So there's a range of different things that go along with autism and making a diagnosis of autism does not of itself define a person. It's important to understand that autism isn't a disorder as such, it's a difference in how the brain has developed. And that's a really important thing. One of the things that people have pointed out very strongly is that, that people who do not have autism struggle to understand people who do have autism. So there's this kind of reciprocal lack of empathy. So you can talk about a person with autism not really understanding you or I having that social interaction but, similarly, we may not understand how the person with autism fails to have that interaction. And that's as much of a problem for the people without autism as it is for the people who have autism. Much is known about autism in terms of how people with autism may appear or behave, but we're still really poor at understanding what's going on in the brain. There are some things known. We know that if you look at the brains of children with autism, often in early life there's a very dramatic increase in brain size. And there does seem to be a problem with connectivity, particularly with important parts of the brain that are involved in for example, facial recognition or language development, and so on. There are problems in the balance part of the brain, which we call the cerebellum, which we now recognise is also really important in in terms of cognitive and social development. Genetic factors, too, are important although they are often multifactorial. One of my colleagues tells me that a really important question in the context of an interview about a child with potential autism is, “Does he or she resemble anyone in the family?”. But we don't really understand how those differences lead to a diagnosis of autism. And even more importantly, we don't really understand how we intervene, at least in a physical sense. We know that the management of autism is about providing a safe space for a person with autism. It's about providing a way of interacting with that person that recognises their difficulties and plays to those difficulties and allows them to be able to develop and learn within the context of those difficulties. When I started in paediatric neurology, most children with autism were educated in special educational provision that really wasn't geared to a child with autism. And many of them struggled because they weren't being given the specific kind of help and support that they need. I'm happy to tell you that that's changed a lot since then. But even now, many parents of children with autism feel that their child doesn't get the help and support that they need. Children with autism may have other problems, they may have really significant problems with anxiety, and that often manifests as they get into their teenage years. That's something that really does require significant and sustained and focused mental health support. So I hope you've understood that autism is a complex area. We've really only touched on the surface of what autism is. And for everything I've said about autism, there will be exceptions, and for every statement that I've made, there will be differences and variations that are important. But it's a developmental variation; it's not a disorder. People with autism are not abnormal. They have developed in a different way, and it's really important that we as neurotypical individuals understand that, just as much as we expect a person with autism to understand neurotypical people. I think I'll end at this point. I'm hoping that by the end of next week, I will be able to bring you the interview with my colleague. I hope it's something that you'll find really, really interesting and I hope that this has helped you to understand a little bit about autism. I look forward to meeting with you next time and to talking with you once again. Good night.