Therapeutic Guidelines Developmental Disability

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Hi, and welcome to this Australian Prescriber podcast. I'm Dr Justin Coleman, a GP on the Tiwi Islands. Now, although working on a tropical island conjures up images of me consulting while swinging on a hammock between two palm trees, in fact, it's quite hard work sometimes, which is why I take time off to make podcasts. And I work with a population who has a disturbingly high rate of developmental and acquired disability, to the point, in fact, where the only school on the island where my wife is the principal has more than 90% of her students qualifying for some sort of special need. So, I quite often feel a bit out of my depth but here today to coach me beyond the shallow end is someone who spent the last 30 years swimming about in the deep, Professor Nick Lennox. Nick is the former Director of the Queensland Centre for Intellectual and Development Disability. Nick, I'm very glad to have you on board as our guide today.

My pleasure. My work, I'd have to say, is focused mainly on adults. So, I'll give that caveat. The paediatricians tend to deal with the children.

Thank you. Although you do have the extra qualification that I gather you were pretty much the author of, or one of the couple of co-authors of the original Therapeutic Guidelines for Disabilities, right?

Yeah, no. We started it and we pulled in a whole bunch of other people, the contributors. So we were the editors in the first version but now fortunately, it's got embedded very much in the guideline series and is going on now to its fourth edition, which is fantastic.

And It's less of a standalone guide and has more links to the other guidelines, which makes it more user-friendly, I think. This particular Therapeutic Guidelines will, I think be less familiar for many of our listeners than some of the others. Can you give us some idea of what sort of topics does this guide cover overall?

We've stepped through this process for the various versions to try to stand in the position of general practitioners in particular, therefore it talks about roles of general practitioners and some of the things that are really applicable within that healthcare context, such as health assessments, what you might do in childhood, in development and understanding capacity. This version also increases some areas such as trauma-informed care, reasonable adjustments in terms of provision of health care. It talks about working with the National Disability Insurance Scheme, which I think many people were struggling with. And it does in the background, some of the really key things I think about what are the things you should look for as a GP, what are some of the specific health problems and particularly around behaviour, psychiatric disorders, which are a real concern.

It talks about autism spectrum disorder, which as people that have been around for a while will know, is an increasing issue in terms of providing health care. And I guess finally, and I've seen the evolution of this in explaining fetal alcohol syndrome, which is highly relevant, I guess, from where you're working, but there's advice about management and how you might talk and raise around the issue of fetal alcoholism. Now when we started the first version, which came out in 1999, we did mention it but it wasn't such a big issue and I think much more has been learnt in that area.

Well, that's a comprehensive list. Thank you, Nick Lennox, happily I'm taking notes. So let's start at the start. Look, you mentioned a comprehensive health assessment for when that person walks into the GP’s office often with a carer. What sort of things are we looking for there?

The evidence suggests that this is a really good way to actually make sure you don't miss problems. And I call this the steak and two veg of general practice is we really hate missing stuff. And we know that from the research, conditions are often missed in this population, not just diagnoses, such as constipation or reflux oesophagitis or epilepsy. In fact, missed often under or over diagnosed are dental problems, other causes of pain. There would be the type of areas that are often missed. So the research, and I have to admit a bias here with my research in Australia, has found that we can improve healthcare delivery by GPs facilitating being part of a comprehensive health assessment. But it's a kind of a two-part thing. One of the problems that I have and all practitioners have is we rely heavily on what patients tell us.

And for many of these people, the story is not that great. We don't get details. So it relies in the comprehensive assessment of gathering a decent story from all over the person's life, whether it's from them, their family or whoever in their life. And then the GP reviewing that and asking intelligent questions obviously about what does that mean and what does it mean? And then it says to GPs, these are the things you're likely to miss and just have a look in this area. You'll see a man that you've seen for years and years and years, and sure he saw a developmental paediatrician possibly when he was a kid and had genetic testing, but genetics has completely changed in the last 30 years.

There's a whole bunch of things that change over time. The other good bit, I think of a comprehensive health assessment is that it actually, we know that it builds trust between the doctor and the person and comfort. It also builds trust between the support workers who are pivotal often in the care or the family and the doctor. As well as does that preventative bit that often gets forgotten about in the busyness of life and paediatric care. So yeah, the comprehensive stuff I think is really, it was really a powerful tool.

Yes. I think the beauty of a comprehensive health assessment for a GP, even though it certainly takes a lot of time and effort often split up over a number of different consultations, is that it does put that framework around where to put our best efforts because of course, some of our efforts are going to be at the very basics that affect every human being. And some are going to be, as you mentioned, some of those things which might be more easily missed in someone with a disability, things like dental and sexuality and menstrual management and those sorts of things, which may slip by the by if we don't have that sort of list. One of the issues of course is a matter of time. It does take us a lot of time and effort to do these health assessments.

I agree, it does. And one of the things about these health assessments is actually your practice nurse can do a lot of this and then you can step in and go and look at the bits that directed. I think a lot of GPs are doing it that way. The other thing is the government in the last federal budget are doing an initiative to try to make it easier for GPs to deliver it and to try to, yeah, to improve the process and the quality of the process. So there's complex care arrangements and there's also chronic disease management plans that can follow on these assessment and make it financially viable to do both particularly I think if you've got a practice nurse in the mix of the whole thing.

I noticed one of the updates in this latest edition is tips for during a consultation where communication is an issue and things we may have to adjust compared to another sort of consultation in terms of history and examination.

It's very nuanced getting or maximising communication with this population. And if I was a person with a disability, what I'd be telling GPs is, even if I don't have language, acknowledge me and communicate with me and respect me in that context. And you may have to go elsewhere for information and detailed information. One of the strategies I've used is really to, and I'm talking about people with significant communication impairment, to communicate with people as much as I can but also ask for the people that are supporting them to actually record things. One of the obvious ones is record somebody's bowel motions. Constipation is a major problem in this population.

This can be actually recorded, as can seizures, which is a major killer in this population. In terms of tips, I'd be throwing it back to the carer saying, I need this information and I need this clearly. I can't do my job really well unless I have this information. And often when I was explaining to carers, you wouldn't expect me to manage your periods if I'd had no story about when your period was or when it first started or what problem you had, and you can't expect me to manage this adequately, unless I've got this detailed information.

I think that's wonderful to start with. Thanks, Nick. And certainly some of those with more profound disability do also have challenging behaviours, which certainly affect the lives of the carers and can also affect the interaction with the GP. There is a section in the Therapeutic Guidelines with advice around those.

Yes. The best way I think of looking at this behaviour is the person is actually trying to communicate with you through this behaviour. And if you're able to understand what they're communicating, and it's often distress or that “I don't want to be here anymore”, that “I'm frustrated”, that “I'm unwell”, it's definitely a possibility in there. So interpreting any challenging behaviour in terms of what this person is trying to communicate to you is absolutely crucial, I think as step one.

The next step is to say to ourselves, are they trying to communicate there's some unrecognised illness going on there that's causing them distress or pain? And that's no easy task, particularly psychological distress because it may be very difficult if somebody's agitated or to say, "What is going on here?" But it's our task I think, to make sure that we have a high degree of suspicion that we're not missing something simple, like reflux oesophagitis or something that I missed. For example, somebody with a dental abscess that I missed for some time before I actually looked in the man's mouth.

Is the person depressed? Is this really about them actually having depressive disorder or a psychotic disorder or have they had a period of abuse or neglect and is this post-traumatic stress disorder? And I know as a clinician and the group of clinicians I was working with, if we saw behaviour and it was really, really, if we just could not fathom it out, we were highly suspicious that this person had been or was currently being abused. Having a high degree of suspicion about abuse and neglect is really, really important.

Yeah. If we do suspect that something's not quite right, what is a general approach there? Presumably involve a third party who has a bit more capacity than we might?

Yeah, look, it's a really good question and in fact there's a beautiful flow chart in the Therapeutic Guidelines that runs you through what to do. And if the person's under imminent threat, absolutely you ring the police. Sometimes it's not clear. Sometimes I sought the advice of the Adult Guardians’ office in whatever state I'm in because it varies from state to state. I think in all states, if I remember correctly, if there's evidence of abuse and it's in childhood, then you absolutely have to report it to the police. It's less clear in adulthood, that the rules change beyond 18 and you have to know what is happening in each state.

But I would strongly recommend picking up the phone and talking to the Adult Guardians’ office and they have health advisors, people that are in the health context, often but not only nurses previously, who can say, "Okay, you need to do this or we'll take this on board, we'll investigate it." Really, you've got to be really suspicious. I've actually had somebody and I thought I knew this stuff well but they completely covered up abuse and I was seeing, and I was stunned. It was like operating blindly, not knowing what was going on. We currently have a Royal Commission looking at this issue. That's how important it is.

It can be a very murky area. And in fact, I think a lot of us find it more difficult if there, if we're not sure what's going on. So there's a suspicion that things aren't quite right. In some ways, once something is very clear, you do contact the third party and they are mandated to deal with it and things move along. Even though that's a terrible situation, it's the decision making isn't actually quite so hard in that situation. It's when you're not really quite sure. And as you say, I guess having a suspicion for it is important.

You did mention that there's a section on the NDIS and because that's such a changing landscape, I think we all need a bit of an update on that on occasion. And you also mentioned in your summary about consent and capacity and decision making, that can also be tricky sometimes.

Yeah, look, it is a really, it's a diabolical issue there because it's quite challenging but the first step is to see if you can establish consent from the person. And it's surprising what people can consent to, actually, if you're able to communicate what your intent is, what the risk is and be able to perceive that they understand what the risk is and make their choice. And if you can't satisfy that then as you say, you've got to go to a substitute decision maker, sometimes called a guardian, sometimes called a public advocate. It does vary slightly from state to state. And it also varies as to what procedures are considered, the implied consent by somebody coming in and not implied consent. People have consent for some things at some times and not consent for the same thing at a different time.

And the other thing about consent is there's often bodies that will assist you with this. And usually it's Adult Guardians’ office or somebody affiliated to the Adult Guardians’ office that can help you with that. I think also that if you've got support, if you've got an organisation around the person, they have an absolute duty to clearly understand what is appropriate and not appropriate. And again, I'd push back at them in saying, "Okay, what's the situation here? What do you know?" Because they're doing this all the time. They should be experts about this all the time.

Thank you, Nick Lennox. I thought we might finish by looking at some of the specific disabilities, which we see more often, which you mentioned in your introduction. I guess in terms of disabilities which have the most physical component that we need to intervene, Down syndrome would be up there, trisomy 2021.

Yeah. I mean, trisomy 2021 Down syndrome has a lot of comorbidities and therefore we have to be involved a lot. Many of the genetic disorders tend to have more associated what we would call comorbidities and Down syndrome has a long list of these and quintessentially where we should be highly suspicious that we're missing something. And in Down syndrome you could name a system and we could say there was something particular of concern about this. I guess the headline ones are thyroid disease obviously, I think everybody generally knows, atlantoaxial instability, which is a rare but devastating condition if they get quadriplegia out of it.

And then dementia, in fact the people with Down syndrome dement early, 20 years earlier than the rest of the population. Sometimes that's hard to differentiate from depression. As I said, there's a range of conditions from abnormalities in hearing, heart, skin, a whole bunch of different things associated. Therefore for GPs, I think particularly the Down syndrome population and other people with genetic causes, this is really quintessentially where the comprehensive health assessment and going over people is really important because you can so easily miss something.

Down syndrome is something which is readily detected genetically of course but also usually detected very early on in their life, things like fragile X often detected a bit later. You mentioned earlier the person who gets to adulthood without a specific diagnosis, have you any particular guide as to who we should be considering genetic testing on?

Yeah. So if you've got somebody sitting in front of you and they don't have a known cause of their intellectual disability, it could be polygenic. It could be a diversity of genes but it's also possible that there's an underlying genetic disorder such as fragile X and you can actually do a test for fragile X and you can do, what's called a microarray, that will pick up some of these things. In my clinical experience, not commonly did I pick up these problems, but when I did, it was absolutely crucial. The most memorable one is somebody with Rett syndrome, we picked up in her forties. And I so remember her mum sitting back and saying to me, "Nick, oh, thank God for this. I've always thought it was because I had those glasses of wine when I was pregnant."

Yeah, yeah, sure.

And it had ramifications for the woman's health care. It's understanding why did she have all this hypertonia, which we couldn't explain, she was very tonic. It can be incredibly powerful if you pick up stuff. I've picked up people who have had bleeds in their brain as a fetus. And we just, because they developed epilepsy, we did an MRI scan and there was this huge atrophic brain or part of the brain. And it explained not only the intellectual disability but also the development of epilepsy. It also said to her siblings, you're not at increased risk of any of this. Really, really powerful stuff. So it's worth thinking about every five years back to a geneticist after doing, I think it's a microarray and test for fragile X.

Thank you. We might touch finally on autism because that is something where it existed when I was a med student and graduating GP. But I think it was fairly limited in its diagnosis and its spectrum at the time. Clearly there's been a huge evolution in the understanding of autism since then.

One, it's much more common now, some prevalences are going to one in 70, although usually it’s around one in a 100 people are quoting, and this in my lifetime has gone from, I think it was one in 900 or 1000 in fact, when I first started, it may be, I think there's greater identification and there's also been some change in the diagnostic criteria. Having a suspicion and getting advice is really useful in childhood because I know, again, this is colleagues who have got children with autism, that, that period of uncertainty, when you've got your young child and things are not going right and being implied that you're just neurotic is really unhelpful.

Keep in the back of your mind that this might be an emerging disorder, because it does emerge in early childhood, is really crucial. And it may be very subtle if you look at the old Asperger's syndrome, people who are intellectually sometimes incredibly gifted but a lot of social awkwardness, a lot of anxiety, a lot of social anxiety, we very much miss these diagnoses in women, particularly, and in men. And it's now emerging that that's a very, very big group who are traumatised in childhood. They're almost universally bullied in childhood and parents are perplexed and can't understand what the hell's going on or how to help them. So again, for a GP sitting there, just be very suspicious that actually this might be going on and this may explain this child's social disconnectedness, some of the more unusual behaviours that they've got, and they'll be doing the best they can as a child. There's no doubt about it, but it's very, very hard for them to survive in the, as a social being in their community.

So yeah, that'd be my plea for autism. And I guess, the other thing which I've alluded to is think about the mental health aspects. I've mentioned social anxiety, anxiety generally, bullying but there's also a high level of suicidality in this population and also issues around sexuality and gender are big as they move into adolescence and adulthood. So one of the parts of general practice I like sometimes is just the journey that you go through with people and being as understanding and as supportive as you can in that context can be a real rock for families, I think.

Professor Nick Lennox, it's been a pleasure having you guide us through this difficult area today and thanks very much for your time.

It's been my pleasure too. Thank you very much. And I hope people find the guidance really useful. Thank you.

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My guests’ views are their own and don’t represent Australian Prescriber, and my views are certainly all mine.