Transcript

MIC CAVAZZINI:               Welcome to Pomegranate Health, a podcast about the culture of medicine. I’m Mic Cavazzini for the Royal Australasian College of Physicians. A friend of mine has a son in the third grade called Jack. Since Jack was 18 months old she’d had concerns about his development; he’d only respond when he wanted to, often echoing what had been said to him. But the general practitioner kept telling her to wait and see, and Jack did eventually catch up to most developmental milestones. But he was irascible by nature and was at his calmest only when buried in a game of his own design. My friend finally convinced the family doctor to write a referral to the developmental clinic, and after a ten month wait for the consult, Jack was diagnosed with autism. He was by then five years old, and my friend was frustrated at the opportunities for intervention that had been missed until then. And she continues to be frustrated by the wild goose chase of trying to get government assistance. The early childhood branch of the National Disability Insurance Scheme has been of some help in subsidising visits to a speech pathologist but Jack’s school has decided that he doesn’t require learning support. Neither the school counsellor nor the Department of Education were able to tell my friend what criteria were used to determine this.

My friend is no rube- in fact she’s a GP herself. Imagine how difficult the medical and administrative maze is to navigate for those who don’t have such a detailed understanding of the system. It’s no surprise that in Australia the average age at which autism is diagnosed is four, according to an audit published in the MJA in 2015 by researchers from La Trobe University. More worrying still is the impact that postcode makes on these delays in diagnosis. In 2020 it was reported that at Campbeltown Hospital in Sydney’s South West, there were a couple of kids who waited almost two years for a developmental assessment. Meanwhile at the Sydney Children’s Hospital in the eastern suburbs wait times were between two and ten months, because in more affluent areas many families are able to see private consultants thereby taking pressure off the public system. In the suburbs and the regions that option is often not available even if families could afford it.

In the next episode I’ll get into some of the problems with clinical training in this field, and the outcomes of the beleaguered National Disability Insurance Scheme, or NDIS. But the focus of today’s podcast will be on delays in the referral pathway leading up to a diagnosis. In order to streamline this diagnostic odyssey and improve equity of access, a national guideline was developed in 2018 by the Cooperative Research Centre for Autism. Early in the piece the Autism CRC had identified a disconnect as to what counted for a formal diagnosis of autism in the eyes of different services in different jurisdictions. In New South Wales and Queensland it’s classically been understood that a single clinician could sign off on a diagnosis of ASD so that extra support could be provided in school. But in Victoria and Western Australia it has been necessary to get the consensus of a team. In some states but not others the opinion of a speech pathologist had been a critical requirement.

Multidisciplinary assessment and discussion of complex cases is the gold-standard in our national guidelines just as it is in the UK, the US, and Europe too. But it can take a long time to bring those experts together. For presentations of ASD that are more textbook, the Australian guideline recommends that a single clinician with suitable experience sign off on the diagnosis themselves, after being informed by reports from allied health or the child’s day-to-day carers and educators. Australia is the first country to formalise this single clinician process though Canada followed suit in 2019 and Aotearoa-New Zealand is undergoing a similar review to the one carried out here.

But the recommendations of the Autism CRC haven’t been universally taken up so they asked me to share the guideline with you. To help me in this task I invited two doctors who’ve been associated with the CRC and who are very familiar with the difficulties of regional practice.

JO McCUBBIN:  I’m Jo McCubbin, paediatrician in East Gippsland. Some years back I was the National Rural Health Alliance’s representative on the CRC to autism at the time.

JAMES BEST:      James Best, I’m a GP in Nowra on the south coast of New South Wales, and the RACGP representative for child and young person health, and have been involved in the CRC autism assessment and diagnosis guidelines rollout.

Yeah this is something I hear time and time again, from parents and carers is, “You just feel like you go from post to post.” And, and every time there's months and months between each post. Meanwhile, the family struggle away and the behaviors get worse and the challenges get greater. And I’m also, as a consumer, if you like, as a parent of a child who had an autism diagnosis about 18 years ago—the process of going through multiple people can be a bit demoralizing.

MIC CAVAZZINI:               I’m want to segue from that. The guideline recommends that the diagnostic evaluation follows the first referral within three months at most. James, what’s you’re experience of trying to get patients in for consults with a specialist in Nowra?

JAMES BEST:      It's been bad forever, and it's getting worse, especially regional and remote areas. It's such huge delays. You see it happen time and time again, and it's not the specialists’ or therapists’ fault, it's just that there's not enough of them. So the access is appallingly bad. It's appallingly traumatic, because it's such a drawn out process. It really is a terrible situation. And so that three month is great to hear. Love to see it. Yeah, I think it's a good bar to set.

I suppose from my point of view—well, first of all, there's barriers before they even get to us. There's the barriers from whoever says, “Hey, maybe there's something going on here”—whether it's a parent or a friend, or a relative or, or a therapist, or a school counselor or whoever—when that little light bulb happens, goes off that from there, to then even getting to the GP—who are usually fairly accessible—that unfortunately, GPs tend to be a bit of a reassuring sort of barrier at that point and saying, “Look, let's just see how we go for a bit.” And, and I think that that's certainly the message that the College of GPs are trying to get out to its members, that that if there is a developmental concern, to take it seriously and be on the front foot in terms of trying to get that specialist assessment done as soon as possible, even if you're unsure. So that's a very central message that I try to get out to the GP world. But of course, even if the GP does do the correct thing and pushes the referral process quickly, there are all those delays.

MIC CAVAZZINI:               When I started reading up on this story I thought that the main bottlenecks would be when a paediatrician was ringing around for second opinions from psychiatrists or developmental paediatricians and so on. But I’ve heard a couple of times now that even general paediatricians might be booked up for 12 months. That’s used to be typical of the public system but also now it’s true also in private. Jo, is it just a supply and demand problem?

JO McCUBBIN:  Largely, I quite often see patients who've maybe tried to get in to see the paediatricians across the hospital. And they've been told that there's an 18 month waiting list, and then they go, “Well, we'll come across the road” and then they wait another three or four months to get in to see me and then somebody gets COVID at the wrong time and then you start again, kind of thing. It's crazy. And often the ones that you need more evidence, it would be helpful, I think, if the GP said, “Well, let's give a speech and an OT assessment underway” because then at least they'd be on the waiting list because it's going to be at least six months. And if they see you along the way, you've moved things along a little bit in that process.

MIC CAVAZZINI:               Yeah I had a similar comment from a school psych/ counsellor in Newcastle, Scott Gould. He said he’d love it if paediatricians didn’t wait until the initial consult before asking for these reports. If they’ve got such a referral booked in for 6 months or whatever, they should ask in advance for the GP or speechie to do an assessment so they don’t waste the family’s time and money to come back for a second consult.

JO McCUBBIN:  Yeah, we don't schedule the time until we've got the report.

MIC CAVAZZINI:               And similarly, he said from his side, the counsellors and GPs initiating the referral process should pass the clients on with what he called a “golden handshake” with all those ducks lined up. And your consulting room, Jo, might not be the best place to observe a client’s behaviour. So how do you bring perspectives from different settings into your field of view? 

JO McCUBBIN:  Well the school is an important one, because that's seeing the kid in a crowd situation—which if I'm just seeing them with their mom, is a completely artificial situation quite often. In the summertime, in COVID, I was conducting clinics in our extensive, lovely garden. So there would be kids climbing trees, and brothers and sisters frolicking around, it was rather lovely. And it often was a much better situation for having a proper chat to the mother without the constant “Do this, do this, can I play with that”, if you get cooped up in the office. And you could also see their interaction and the tippy toeing and some of those things that have been just tucked away in the office. So I actually found that a really nice way to operate.

The other thing that has become actually much easier in recent years—because I used to do a day where I would go to Bairnsdsale and we'd see five families and children and we would do the deal and I'd come back exhausted, hoping there were no kangaroos on the road on the way back and write five extensive reports—Nowadays, I spend most of my Friday afternoons in term time, just doing a hookup with the school, the OT, the speechie, the family, the grandma, and we just put it all together. And that's really a more efficient way than the way we used to do it.

MIC CAVAZZINI:               The national guideline signposts the importance of these reports as part of an Assessment of Function. This is distinct from the diagnostic evaluation and can be performed right from the get go, as you’ve said by GPs, speech pathologists, psychologists, OTs. James, explain how this can get the ball rolling with early intervention even before a definitive diagnosis has been made.

JAMES BEST:      I think that's absolutely critical. Both the assessment and intervention can start from the get go. And, of course, there's often much more than an autism diagnosis going on the co-diagnoses are huge. I mean, the average number of co-diagnoses with autism is four to five. And it's often the co-diagnoses that are causing more of the problem, especially as time goes on, anxiety being a huge thing and ADHD as well. So the autism diagnosis is just one little bit, and it's actually parallel—I won't say separate, but it's parallel to what else is going on. If there is a six month paediatrician delay—or 12 month, or 18 month as Jo said—if there is that sort of delay, get things going in terms of intervention and therapy. You know, you're not going to make a mistake by not getting things going.

MIC CAVAZZINI:               An Assessment of Function can be contributed not just by a doctor but also an occupational therapist, a psychologist, a speech pathologist, a nurse practitioner or a social worker. There are templates for these reports at the Autism CRC website and of course different practitioners will contribute different aspects covering language and cognition, social and emotional behaviour, and motor skills and adaptability. The guideline recommends that the family be given a written report too that spells out a child’s discrepancies from the age-accepted norms. According to multi-site surveillance data from US eight year olds, the prevalence of autism spectrum disorder sits at around 17 cases in 1000. That figure has increased by forty times in as many years, and this is generally a good sign that awareness of the condition has increased while stigma is lower than it used to be.

But it’s still often diagnosed later than it could be. In a draft of the national guideline, early childhood screening for autism had been considered but the RACP provided feedback noting that “ASD screening tools are not used consistently in Australia and their role has not yet been established. Screening has the potential to do harm as well as good.” The US Centers for Disease Control have been similarly cautious of the American Academy of Pediatrics’ suggestion for community-wide autism screens at 18 and 24 months.

Every screening program has the potential for false positives, even cancer screens that use more sciency tools like mammography or blood PSA. Repeating observations over time can filter out some of the spurious results from ad-hoc screens, and the misinterpretation of screening tools for diagnostic ones. The CDC offers a helpful explainer. Screens like the Modified Checklist for Autism in Toddlers known as M-CHAT, or the more general Ages and Stages Questionnaire only take a few minutes to perform. By contrast, diagnostic tools like the ADOS, the Autism Diagnostic Interview and the Gilliam Autism Rating Scale can take a couple of hours, because the algorithmise the formal diagnostic criteria.

The Australian and the American guidelines recommend that developmental screening start with a very broad scope.  One of the authors of the guideline, Psychiatry Professor Valsamma Eapen has been testing in Australia the validity of a regime adopted by the US CDC. In a project called Watch Me Grow, families waiting for a scheduled community health visit are presented with a QR code that leads to a screening checklist. While asking about general development it also includes ten autism items from the M-CHAT. Responses are scored automatically and if a threshold is reached, the family and the GP are both alerted. It’s only after a more thorough consult that the practitioner might refer on for a specialist diagnostic evaluation sometimes requiring an autism-specific diagnostic tool.

Professor Eapen also told me that in some jurisdictions only a third of Australian families engage with the schedule advised by the state’s “blue book” surveillance program. For minority communities that rate is much lower still. In order to address this, the Watch Me Grow checklist has been translated into multiple languages. James Best is a strong advocate for the role of primary care in developmental surveillance.

JAMES BEST:      Surveillance is it's an interesting word, as distinct from screening. It is very different and much more effective than screening. Actually, there's a lot of data suggests that if you get someone who doesn't know the child, or just sees them once, and does a certain screening tool, their sensitivity is poor. But surveillance—seeing someone repeatedly over a period of time, both parent and child or carer and child, I think is very effective, where you pick up things are not going in the direction they should be.

We should be we should be diagnosing children under two. If the health system was doing its job correctly, I feel that there's no reason why children shouldn't be being picked up and diagnosed under two. And that doesn't happen. That's probably the most important GP role is to, to ask the question at 12 months and 18 month vaccination visits, and you know, actually asking about all aspects of development. And then if you if you if you get the flag, then then go for it hard.

MIC CAVAZZINI:               Let me just elaborate on that. If you notice something—you said something in your webinar about how you then call them back for a second long consult.

JAMES BEST:      That's really General Practice 101, where you basically you see something, anything that’s complicated—whether it's diabetes, heart disease, COPD or autism—what's called the identification visit. Often psychologically, no one's ready to really explore this in depth at that point that come in for their 18 month shots and all of a sudden, you're talking about someone's might have a potential lifelong condition that they their parents weren't even vaguely aware of. So you get them back in a couple of days with the partner, and you go through things, and you do a detailed history and examination.

MIC CAVAZZINI:               Yeah. And there’s research evidence from the American Academy of Paediatrics that have trialed a surveillance program in some community trials. And UNSW Professor of Psychiatry Valsamma Eapen she advocated for this in an article for the Australian and New Zealand Journal of Psychiatry. Interestingly, she wrote that more than half of primary care professionals don’t use standardised instruments for the general developmental checks [from BMJ Open] recommended in the blue book. James are you aware of inconsistency or even confusion among GPs around best practice?

JAMES BEST:      Oh, totally. There are 40,000 Plus GPs in Australia, of which the average age is the mid 50s.

MIC CAVAZZINI:               And there are about 20 different tools.

JO McCUBBIN:  Yeah

JAMES BEST:      The people who are over that average age didn't have any vocational training in general practice. They just went from being a resident in a hospital to being a GP. And so there is a huge variation in general practice from very, very good to not very, very good. And as I mentioned before, there's different styles. So saying that thorough assessments and using standardized scores, is not widespread, well that's like, “Of course!” But I think really, that's not the central issue. The central issue is, once again, actually, you know, taking it seriously, just doing some sort of developmental assessment. And referring when you pick up something, these are the core…

The fact that the standardized scores are not used routinely—you’ve got to remember, that paediatrics is one small part of general practice, and that developmental paediatrics is only part of paediatrics. And there are some GPs who don't feel that comfortable—a lot of GPs who don't feel that comfortable dealing with behavioural issues in paediatrics. And it's actually it's actually dropping. We've had some recent data that saying that GP registrars are increasingly uncomfortable talking about child behaviour issues. And especially, if you're not a parent yourself and this kid's pulling apart your printer, and playing with your mouse—they’re very challenging consults. And paediatricians who do who deal with kids all day—you know, we in general practice, it's 15% of our work. So, we've never been that confident with this, a lot of us—as I said, it varies enormously. But in terms of the standardized scores, I don't think that's too central thing. I think it's more those philosophical things of how you do your job.

MIC CAVAZZINI:               James you talked in your webinar an app called ASD Detect, developed by La Trobe Uni, that actually has parents in mind as it audience for surveillance. It shows video examples of toddlers demonstrating comparative delays in babbling, lack of response to their name, limited gaze shifting that kind of thing. Is this a good approach or does it add to the already great anxiety of new parents?

JAMES BEST:      No, it's a fantastic approach. It's a brilliant tool, I think, I really rate it so highly. If there's an issue, the parent wants to know. And it brings a parent to the health system, saying, “Look, I'm concerned about this.” The other reason why I like ASD Detect; it's so it's so illustrative. You know, even an untrained person can just sort of say, “Oh, that's what a 12 month kid normally does. And this is what this kid with who's 12 months old, with autism, this is what they're doing differently. It's so demonstrative and, and so it's certainly something I encourage everybody who's got a child to look at. I just think it's going to pick up things quicker, using that. I also encourage GPs to look at it.

MIC CAVAZZINI:               The lack of confidence working in this space isn’t restricted to general practitioners. One paediatric registrar I spoke to said that 60 to 70% of new referrals to their general clinics were for developmental concerns, but this topic makes up only a small fraction of the training curriculum. I’ll come back to this in the next episode in an interview with the RACP’s Chair of Community and Child Health.

There will always be complex presentations where the consensus of various clinicians is necessary to untangle co-morbidities or confounding drivers. But one take-home message from the guideline is there is no reason to hold off on intervention while those opinions are gathered. As the RACP reviewers of the guideline noted as well, “The nature of the interventions best suited for the child’s needs are not consistently informed by diagnosis alone, but by a range of factors including family and cultural issues, general development and additional health concerns… a precise categorical diagnostic approach for ASD may not be feasible or necessary for a particular individual.”

Consistent with this recommendation, the NDIS does provides an Early Childhood Intervention pathway for children below the age of six who have significant developmental delay, even if that isn’t tied to a definitive diagnosis. Intervention might involve speech therapy or cognitive behavioural therapy for the child, or parent-led practices that help social development. By 2024 this opportunity is due to be extended to under nines too which is encouraging to hear. But predictably, there are long delays to get access to these assessments too, and as we heard at the beginning, it doesn’t always line up with needs the Department of Education is prepared to support.

Jo McCubbin said that Victorian schools require a multi-disciplinary consensus diagnosis of autism before they will provide additional support. That used to be the case in Western Australia too, but since the release of the Autism CRC guideline a single clinician diagnosis is now sufficient.

JAMES BEST:      The Education-Health divide is a really big problem in terms of funding, and people requiring diagnoses, and teacher's aide support and it’s different for every jurisdiction. And also, of course, you've got a state-federal issues as well. Every school should have a counsellor sort of role in there, and an emotional/ behavioral support sort of role, not only for autism, but for all issues and learning difficulties and all the rest of it. And also, it shouldn't be diagnostic-dependent. It really should just be functional-dependent.

JO McCUBBIN:  And that's one of the things that my relationship with the school support team in Sale is really handy. Because in our meeting, I can say to the speechie that deals with that school, “When you're over there next time, can you just sort of do an observation in class and have a look at this kid?” Even if the school isn't really saying there's a problem. And they might then say to the teacher, “Actually, I've noticed—reckon you should do—can you fill out this form—and sort of sneak it in for me.

Because it's sort of a silly circular system. The school has to want the assessments done and the school have to want to pay for it or it won't happen. If the school is worried, and they say to the parent, this kid could have ADHD—they usually don't want to say it's autism, even if that's what they are clearly thinking—"you should go and see a paediatrician.” And then they go to the GP and the GP refers them and then they eventually get seen. It wouldn't be good if there was some way that you could leave out one or two of those steps. And I'm not quite sure why the school's budget has to pay for their own department to do an assessment. That seems a little bit--that's just shuffling budgets. So it’s complicated.

MIC CAVAZZINI:               It's all these tendrils coming from all directions, and do they actually match up. Another interesting gripe that Scott had was that when paediatricians do ask for an assessment in school, they always want an IQ test done. I think he said it was to rule out other intellectual disabilities rather than to support a diagnosis if autism but he said the problem is that it can take a whole day, it’s very expensive, not every school will have someone trained to do this. Does this sound familiar to you that a paediatrician would want to just rule that out?

JO McCUBBIN:  Just talking to a kid, if they're fairly verbal, you get the impression that they probably within the normal range or there's major problems here. But in Victoria to get the autism funding at school, you pretty much have to have an IQ test. Because if you're too bright, that cancels you out, even if you have terrible verbal scores and really good visual spatial and other scores in there. Having said that, it's really handy to have an IQ because it gives you several other things. It looks at their memory, it looks at the freedom from distractibility, it gives you other useful information. And I think it's often a useful tool for the teachers to understand that child's strengths and weaknesses. So it's not a bad test, but it's maybe not the first one you’d go for. The one that I probably use the most is the Social Responsiveness Scale. You don't even have to have to have the kid’s cooperation because the family and the school fill it out have broadly agreement on how the kid performs against those sorts of social domains, that gives you a pretty good handle.

MIC CAVAZZINI:               There will more complex cases where a paediatrician might not be confident in ruling out differential diagnoses. Autistic people do have presentations that can be mistaken for other behavioural or affective disorders and there is also a lot of comorbidity. Up to 95% of adolescents with an ASD diagnosis have at least one co-occurring condition. In about a third of cases that’s ADHD, but anxiety, depression, sleep disorders and epilepsy are also common. Jo is this the kind of situation where you’d want, say, a child psychiatrist to participate in a consensus evaluation?

JO McCUBBIN:  They're the typical ones. And very often you're thinking, “Is that trauma or is it autism? Is it a bit of both?” And I think that's the real setting where you want some more input to try and get other people's perspectives.

JAMES BEST:      I'm with Jo on the trauma thing. I see a lot of trauma in the cohort that I deal with. And it's particularly the interface between trauma and ADHD sort of behaviours can be very hard to pick apart. Also with ASD as well. And parenting styles and things like that can really be very influential on behaviors. And I would imagine, from the paediatrician point of view, in all that sort of background it can be quite hard to pick apart what is going on. But the multidisciplinary team thing it's access is the big limiting step.

MIC CAVAZZINI:               I’ll link to an episode of another podcast called Speak Up where a couple of speech pathologists describe the kinds of assessments they perform. One of them is Robyn Stephen, Director at Melbourne Child Development where they even have play rooms with a one way mirror so that clinicians can look on. And a child will be reviewed by a speechie, a paediatrician, and a clinical psychologist all in the same day. I can’t imagine this is the gold standard available in Sale or Nowra. What do you Jo if you need to ring around and get everyone in the same room for…

JO McCUBBIN:  Well we have an ADOS in Lake’s Entrance or Bairnsdsale. And there's one in the mental health team in Traralgon. So the either side of me, really. The team in Lakes through the Community Health Centre there has plenty of speechies and OTs and clinical psychologists that sits in and they’ll often then have a quick chat to me at the end of it with their impression. So that's one way and I just add to the sign off and everybody's happy.

MIC CAVAZZINI:               And that leads to—you know, the guideline recommends there still be a lead clinician coordinating the process and advising the client.

JO McCUBBIN:  That’s my secretary.

MIC CAVAZZINI:               Well, in that Speech Pathology podcast, the presenters said it was really annoying when they’d done a bunch of assessments and provided a report, but then this was missed or ignored by the specialist they went to who then asked for the same assessments to be repeated. James, how do you make sure all this documentation doesn’t slip through the cracks? Is there a place like the MyHealth Record or some other centralised way to coordinate everything efficiently?

JAMES BEST:      Well think it's the role of whoever's running the show, whether it's the GP a lot of the time, but in autism, that can often be the paediatrician; that if there are different reports that they're they are taking notice of and utilized fully. Sure you can use MyHealth Record as a repository. But you know, a document can sit in the MyHealth Record and not be read. So you are the wheel, the central part of the wheel and spoke. So if you're taking that role as “the medical home”, as its expressed, for that person, then you need to be in charge of all that and coordinating that and getting the bits that you need to get.

MIC CAVAZZINI:               And it might be the GP, it might be the paediatrician?

JO McCUBBIN: Yeah

MIC CAVAZZINI:               I want to spend a few more minutes on the— another essential step in this whole process. The medical evaluation can be done by the GP or the paediatrician irrespective of whether a diagnosis of autism has been made. It needn’t be a separate consult but it is a distinct step and there are templates for the best documentation on the Autism CRC website. James can you run us over the physical signs you’d be looking for to filter out differential diagnoses?

JAMES BEST:      Well, I think the first thing to do is just realise that children, whether they actually have a formal ASD diagnosis or not, their diets can often be different; their behaviours can often be different; their—what sort of activities they do; their risk of trauma and safety issues; vaccination; nutrition; dental; looking at their skin. There are all these different aspects going on. As I said, whether they've got an ASD diagnosis, or they've got an ADHD, or anxiety disorder, or intellectual disability, or whatever, they're all these things that go around it. And I think that that's what a good clinician should be doing. It’s not just an ADOS, it's so much more to this, you got to look at these kids holistically. And certainly from being a parent of a child with autism and seeing all my autistic families that I see, these are the things that really matter; going to the dentist; getting a haircut; dealing with a bolter in a car park. These are the things. So yeah, I think that's really what I like to see and what I like to encourage.

MIC CAVAZZINI:               For those listeners who maybe don’t see this every day; dental hygiene. It’s common because people with ramped up sensory or behavioural issues often resist having their teeth brushed.

JAMES BEST:      And different diets; and grinding and, and can't brush them. And

MIC CAVAZZINI:               And do how do you respond to this? Do you need to enlist an occupational therapist to help the family out? What can be done to help the brushing?

JAMES BEST:      Or an experienced paediatric dentist. And a lot of behaviour therapies, and this is something we haven't really mentioned; What happens beyond the diagnosis? You know, some people think that early intervention is weekly speech therapy and OT for the next couple of years. That's not early intervention. What happens beyond that? And that varies enormously in terms of the education and motivation and capability of the parents or carers, and financial situation, and NDIS, and all that. So things like when you talk about getting the dental care, things like OTs and stuff can help but sometimes it's the parents themselves that find the resources to do this as well.

MIC CAVAZZINI:               And you do need a bit of lateral thinking when performing a medical evaluations. Describe for us the interesting example you had of the 9 yo girl that came in with the skin…

JAMES BEST:      Yeah. So she was a patient I’d known since birth, actually. ASD level three, nonverbal. And a brother who was also ASD level three, nonverbal. And she came in after with weight loss and fatigue. And she'd be picking at it—she'd always been a picker, but she'd been picking at sores and she had all these sores all over her beody. And she’d been to an ED the night before. And they said, “She's OK.” Did some bloods and sent her home. And the mother carried her into my room. And I thought, “Oh, my God, what's going on here?” And she had slightly warm joints and looked unwell and I sent it up to ED again at the kids hospital and they—she had scurvy. Because of her incredibly, incredibly restricted diet because she had autism. And the mother joked—absolutely lovely woman, she said, “Oh my God, not only do I have a severely disabled child, I've also given them something that Captain Cook could have sorted out.” But there's all these things that happen in autism that are outside the square.

MIC CAVAZZINI:               And one throughline of this national guideline is that this ideally streamlined process must be accessible to people of all ages or genders and cultural backgrounds. We know that autism spectrum disorder has in the past been defined by its masculine presentation and there used to be a 5:1 gender skew in diagnoses. Now, with greater awareness, that ratio is closer to 3:1. Can you highlight some of the differences in the way girls present, Jo?

JO McCUBBIN:  Well, often they're much more verbal, and make better eye contact and it's not your first thought. And it's probably much harder for GPs in that situation, because it's often not til they’ve sitting in your office for half an hour and they start saying, “I'm hungry. I'm hungry. I'm hungry” And you think, “You're 12. Why are you behaving like this?” And then you start to ask the right questions because there's something not quite right. So they can often really hide it, pretty well so that they're doing okay at school. They may be obnoxious the moment they walk out the gate, but nobody really says that at school. They're good kids and they're angels. So that's not at all uncommon sort of presentation and the family of got used to living with all the routines and rituals are things that are inflicted on them by this person who they have to do it their way, because that's the only way that works.

MIC CAVAZZINI:               Yeah, there’s an interesting thing there about—even with their play—they might be quite creative but…

JO McCUBBIN: Oh yes. One mum said to me, “Oh, she's really creative, and all the other kids want to play with it. But she just walks away if they won't do it her way. Has to be what she'd been envisaged.”

MIC CAVAZZINI:               We also know that people from ethnic minorities tend to be diagnosed with ASD later than those in the broader population. A part of that might be down to their ability to navigate the health but there is also cultural bias woven into the diagnostic criteria. I read how the recent ICD-11 diagnostic manual refers to impairments in “symbolic play” such as picking up a banana and pretending it’s a telephone. But the writers of this article from Spectrum News note that kids from non-western cultures don’t necessarily play in the same way. So James, we can’t be too algorithmic in the way we…

JAMES BEST:      Both of those have a social component that makes things more subtle, and variable. And with the cultural things, of course, different cultures will have a whole complex ways, including pretend play. But there are other things too, you know, in terms of speech and speech patterns, and when it's right to speak, and the dynamics of power within a household. The other thing, of course, is the cultural overlays on disability; that in some cultures were disabilities very much frowned upon and hidden. So, you know, the acceptance of going to a paediatrician may be quite a problem. I've certainly seen that.

MIC CAVAZZINI:               To finish on a positive note—and you’ve already alluded to this both—people with autism may already have personal strategies they’ve developed for navigating the world. And the guideline emphasises that you want to identify an individual’s character strengths and environmental facilitators not just their deficits. Do you have any examples from your own practice where this has really shone through.  

JO McCUBBIN:  I do—a kid that I always remember because he was so hilarious. He came to me, he had been diagnosed when he was quite young, he was 13 and he was loving high school. But his opening gambit to me was, “What kind of alien would you like to be kidnapped by?”. And I sort of said, “Oh, ones that would be nice to me and had decent coffee.” And he said, “Yes that would be the something-or-others.” this. And his mum said, “I'll come too.” Anyway, the conversation moved on and all of a sudden, apropos of nothing, he said, “Oh I just thought of something. The such and suches are too nice. They wouldn't kidnap you in the first place.” I could just see, this kid was the life and soul of the playground, because he said such hilarious things. And he was—he could probably be a comedian, if he could connect up the dots that way. But he was just—he had so many strengths. And it was no surprise to me that year seven hadn't been a drama at all, and his mum most expected it.

JAMES BEST:      The whole thing in autism at the moment, a big movement in the autism communities around the world, is difference versus disability. Autism pride is a real thing now and we have to be a broad church and be accepting of everybody. But, of course, it can also be a disability and it can impair you in terms of what you can do or not do in life. But the deficit-based thing, I think from a parent point of view, it wears you down when you're having to repeatedly point out what your child cannot do to lots of different people, or other people are telling you what your child cannot do. A that’s also an issue with the NDIS as well, it's all very deficit—you’ve got to prove to them that your child's bad enough. So I like to say to parents when they get a diagnosis, “Don't think of it as an anvil dropping on your child's head. It can be an issue, and it can be other stuff that goes with it. But really, now you just understand your child a bit better.

MIC CAVAZZINI:               Thanks to James Best and Jo McCubbin for contributing to this episode of Pomegranate Health. A lot of other people gave me valuable input too. They are developmental paediatrician Vanessa Sarkozy, school psychologist Scott Gould, speech pathologist Andrew Whitehouse, psychiatrist Valsamma Eapen and the parents who spoke to me about seeking help for their autistic kids. In the next episode we’ll get a response to the systemic problems described today from Paul Hotton, who is the Chair of the RACP’s Child and Community Health Committee.

For links to all the papers discussed in today’s podcast please go to racp.edu.au/podcast and click on the link to this story. There’s even a complete transcript if you want to refresh your memory and a comments section where you can carry on the discussion. Or you can send in your thoughts and ideas for new stories to the email address podcast@racp.edu.au. The views expressed in this podcast do not always represent the position of the Royal Australasian College of Physicians. It was produced on the lands of the Gadigal people and I pay my respect to the storytellers and the healers who came before me. My name is Mic Cavazzini. Thanks so much for listening.