Table 3 Illustrative quotations for Theme 2—Managing risk and probability when investigating EDI

Subtheme 1: Circumspection

 Performing a battery of tests

“We have a set form on ICE [investigation requesting software] for all developmental delay, so we can tick all of those… it almost kind of feels as if there is a button that you just press and you don’t have to remember which investigations to do. So, I think, perhaps in a way, we have almost got lazy in that we just do that rather than thinking clinically.”

6

 Guidelines provide safety and standardised practice

“I think some of my colleagues do like to have a guideline that they will just follow because that makes them safe.”

3

“I guess the reason why I'm a guideline person is, erm, if somebody wanted to question my practice of why I'm doing it I just, it’s a comfort blanket to say, ‘Yep, I'm always following those guidelines. I wasn’t practising as a maverick!’”

1

“I think the, err, advantage of having a national or international guidance is that, err… if you’ve followed it, err, you have, err, greater, you know, medicolegal immunity, if you like, to being challenged. Whereas if you have deviated, then you are at risk.”

2

 Justifying practice by reducing unpleasant procedures

“It’s better for children to have [investigations] all in one go….if the child needs numerous needles, it’s not a particularly nice experience.”

6

Subtheme 2: An acceptable level of risk

 An acceptable degree of risk

I remember as a trainee being told years ago that you should always feel slightly anxious that you might have missed something because, if you don’t, then you are over-investigating.”

3

“We have to acknowledge that, um, we won’t always be right, and to have the humility to accept that we will sometimes be wrong, within the caveat of the fact that there are other support measures around to guide the practice.”

8

 Over-investigation as a problem

“I think at the moment we perhaps over investigate in terms of the numbers. I think it is okay to investigate children but I think we probably need to be a bit smarter.”

6

 The difficulties presented by guidelines

“I think guidelines give people um the ability to cop out of the situation and they need to think.”

5

“I think guidelines are really important, but they are more useful to less specialist people um and to trainees. Now that might sound a bit patronising, and I don’t mean it like that, but as you are moving around specialities in paediatrics you don’t know everything about everything.”

10

 The need to over-ride a guideline

“So, whether a test is within a guideline I suppose would have some sway on individuals and would have some sway on me, provided I’ve got the flexibility to um over-ride that if I feel that, actually, at that point in time, either it was not warranted or there was something about the child that would make me, umm, want to deviate from it.”

8

 The importance of clinical phenotype

“My approach tends to be that I would, err, come at it from, erm, from what I like to think of as their biopsychosocial risk factors or I do a risk stratification in my head.…I would go through the history in great detail and the examination in great detail, and within the history and the clinical examination, I would be looking for specific risk factors which are pointing me towards any particular areas of difficulty.”

2

“I think there is no point being a doctor, you might as well have a robot, if you’re going to do everything straight away. It’s about clinical acumen, isn’t it?”

7

“There’s a paper that a biochemist from X did … and if you looked at that, you’d go bananas because there’s so many metabolic conditions and I’ve got to pick up everything?! I don’t think so! And that’s why it’s important that the clinical examination is so, so very important, and taking the history, and clinical skills are important. You can’t just do a tick box exercise. No!”

12

 The stepwise approach to investigation

“I would think about have we looked for an underlying cause to a reasonable extent. So that would be the first level of investigation. If that hasn’t yielded a cause, a second level of investigation. After a second level of investigation that I consider to be thorough, then I would usually stop investigating. I may refer the child to a geneticist, if I think that is relevant.”

9

“I still feel more comfortable having covered the basics knowing liver, kidneys and thyroid are basically working, the body is working okay, before I start exhibiting any medicines of any kind.”

11

 Exceptions to the stepwise approach

“… particularly the children with ASD, a blood test is quite, can be quite abusive.”

10

“The only time I would think of doing more tests… say, if a child were to have MRI brain under general anaesthetic, I would think carefully if the child needed a lumbar puncture for CSF neurotransmitters and, of course, then I would want to do them both together at the same time. But, no, otherwise it’s step-wise approach.”

14

 Invasiveness and inconvenience of investigations to families

“I think we do need to think about the invasiveness of a test. I think that you know they’re not nice procedures in children and it is very quick for us, because we don’t have to do it, we don’t see how distressed the children get, we just write on a form and send them off to somewhere else to have it done.”

4

“Because our children are seen in community clinics they need to go to blood tests…for blood tests, they have to go to the hospital. Erm, so it is a trip for the parents and, you know, paying for parking, and all the rest of it.”

3

 Watch if initial investigations are negative

“One of the other tests that we’ve not talked about that I think is under rated is time, and that is re-visiting after an interval to see what’s changed and not, you know, not forgetting you can do that. Because, sometimes children grow into a condition and it is more obvious later on.”

11

 Parental influence

“I would take into consideration where parents and the family are. And there are some families for whom the anxiety, err, doesn’t let them function and it affects their mental health, err, everything else. And in those situations, sometimes, following a discussion, I will go for a particular investigation which they are completely over-focussed on.”

12

 Inconvenience to clinicians of false positive or insufficient samples

“The more investigations you do, the more you pick up false positives, the more you stress everyone out, the more blood you end up needing to take, the more, you know ermm—and it’s costly. And actually, you know, if we send everything on everybody we end up making a lot of work for us and hassle to the families.”

3

 Over-investigation

“That comes again to the over investigating, you could do harm to a child by doing that.”

13

 Missed diagnoses

“I think people tend to go with what they have been taught and I think if either they’ve seen something that’s been missed, or they’ve been trained by somebody who has seen something that has been missed, I think that tends to raise people’s level of concern and make them more likely to do more tests.“

4

 Paediatric Neurologists

“Paediatric neurology sees one end of the spectrum. You know, you don’t have clinics full of children who have nothing other than developmental delay. You only see the children with lots of other exciting stuff going on, who were much more likely to have a diagnosis that you can make.”

3

“I wonder if that’s partly because people have… parents have a certain expectation, the referrer has a certain expectation, it’s very difficult for a neurologist to see patient um and not add something to the investigations that have already been done, because you sort of feel that’s what’s been expected of you when the person has made the referral.”

9

 The influence of cost of investigations on the health service

“I think it’s really low yield and I just, I just, I just think we’re a national health service and we need to think about costs, and I know a lot of people don’t want to think it’s appropriate for doctors to even be involved in that at all, but I don’t think that… that’s life. We do have to think about costs. There are services we cannot get, such as there is no community services at all available for our ASD kids or, you know, and maybe if we didn’t do so many first line really expensive things that are really unlikely to yield results, then we would have more money for other things.”

7

 Participants don’t know the cost of investigations

“The cost of the test, err, we don’t have a recent idea of what the cost of the tests are.”

12

 Cost is less important if the condition is treatable unless it’s very rare

“As a consultant, umm, I’ve sort of reflected upon, more the treatable aspects that I can do in neurology and I try not to miss those things and because, as I said before the… if I can…, that one child that I picked up, you know, his life changed, but that also saved the NHS somewhere between £5 m—£40 m. So, I would happily do, for the rest of my career, just for very long chain fatty acids, acylcarnitine and biotinidase, without worry that I am going to bring the NHS to its knees.”

5

“If it was treatable to the point of retrieving somebody’s cognitive function fully, you know, these things would be in my mind. If there is a possibility of doing a fantastic treatment, even if it was a very rare condition, I would be prepared to spend a lot more.”

9

 Newborn screening

“If it’s a treatable condition, there would need to be a discussion about whether it should be included in the newborn screening programme.”

11

 Clinicians cannot make these choices on a population level about cost

“For me, they are the kind of decisions that NICE [National Institute of Clinical Excellence] get paid all the money to make.… I don’t think those kind of decisions are mine to make. I don’t think that’s for an individual clinician.”

4

 Redirecting money from investigations to other services

“I mean there’s so much more that we could spend that on if we weren’t wasting it on investigations that weren’t necessary and weren’t telling us the right things! Then that could go into more physio, more speech and language, more interventions for the children that have got developmental delay…”

4

“We may never see this money would we really? (Laughs). I think that’s what it comes to, because you would not see this £6 m. It won’t be in your budget. It won’t be in a place where you can use to develop your services.”

12

Transition between styles of practice

 Relying more on phenotype with clinical experience

“I have to admit that I’m changing in my approach to neurological presentations in general and probably in developmental delay as well, and that err in the past, when I was a young paediatric neurologist, I was probably quite aggressive and, you know, you do lots of tests. And now I am a bit more thinking, ‘um do I have to do that straight away or do I wait and see?’ and actually there’s so much to gain from monitoring things over time… I’m probably sometimes a little bit more hesitant to do invasive tests.”

13

“As I’ve gone along my journey of many years in the health service I think I’ve cut down the number of tests that I did. You know, historically, I might have done more metabolic type tests on everybody, but actually the yield was low and I learned that from auditing my practice and realising that actually I’m not picking up much here, there’s a better way to do it, and try and keep up with the literature.”

11

How practice could be improved

 Evidence to produce a national guideline that stratifies investigations according to phenotype

“I know that’s what the Sheffield paper said, like, ‘Well, what’s the point because you pay so much money and you don’t get feedback?’, but actually reading the paper the children weren’t investigated consistently with that, with a battery. So, you couldn’t actually answer that question for the very rare conditions. So, if we had a regional or a national cohort where we did a certain test for a child with isolated developmental delay, we could finally say, ‘you know, actually we found nobody doing biotinidase, so let’s stop doing it’ or actually you might find we had two patients and we should really be doing it… or maybe we could say, ‘Well, actually we’ve got two patients but they were both of Asian origin, so, in Caucasians we really can forget about doing this test, but in other ethnicities we should’. And I think, because we don’t have that population approach, we haven’t been able to get the answer. So, if we had an agreement about a set of tests we do, and do that for a period of time, we might get some of that back and that would be just so amazing.”

13

 Collaboration with others

“I’m very lucky because I do a joint clinic with my neurology colleagues and I’ve done it for all the time I’ve been working here and we are really fortunate because we learn from each other’s experience.”

12

“I do a monthly clinic with my colleagues in the regional clinical genetics service. It’s something, you know, we talk about things in every clinic and … I learn from his experience and the regional experience, and I’m always open to changing my practice because what I want to be is efficient and effective, but not be over-using investigations that are going to cause worry to families and that are going to be costly to undertake.”

11