Wisconsin Public Television University Place  Katie Williams Health Supervision for Children with Down Syndrome  April 27, 2013   cc >> Thanks for Dr. Malik for inviting me to speak today. I'm really happy to be part of such a great program. Just to give you some background on who I am and how this project came about, as Dr. Malik said, I'm a pediatrics resident. As part of our training program, each of us is required to do a research project, and I came into residency with a strong interest in taking care of children with genetic syndromes. And so, actually during my fourth year of medical school while I was doing a rotation here at the Waisman Center, I was approached by Dr. David Wargowski, one of the geneticists here that some of you may know, and he and Dr. Wald, our departmental chair, had had an interest in this project and looking through the charts of the children within our system to see how well we're taking care of them and if there's any ways that we can improve that so that we're giving the best and highest quality care that we can. And so, over the course of the past three years, we've been working on this project together, and we've also had some help from Yen Zikov, a statistician who's helped with the interpretation of the data. So just to give you some background, Down Syndrome is the most common of all the chromosomal disorders. Statistics on how common it is vary slightly, but one out of 600 to one out of 700 is usually the statistic that I find most common. And from a pediatrician standpoint, you encounter children with Down Syndrome in all of the clinics. Whether you're in a cardiology clinic, you're taking care of patients in the hospital, in ICU, or in your continuity clinic, you're bound to run across a child with Down Syndrome. 

So it's really important to know how to give them high quality healthcare. There are several associated medical conditions with Down Syndrome. None of these are unique to Down Syndrome. Any child can have any one of these disorders, but these are more common in children with Down Syndrome. Heart diseases is probably the one that we think about most in pediatrics because generally these are structural defects that are present at birth that can be very severe and require surgery. And so that's commonly the thing that pops into a pediatrician's mind when they see a baby with Down Syndrome. Blood disorders are common. These usually present a little bit later, and they can be in multiple forms. They both result in abnormalities of blood cell production from the bone marrow. In some instances, the bone marrow can produce too many blood cells, making the blood a little bit thicker than normal and predisposing someone to clot or stroke. 

In other cases, the bone marrow can start producing cells in an abnormal way, making someone more prone to leukemia. Thyroid disease is an important thing to think about in children with Down Syndrome. In adults, we think about low thyroid hormone levels and associate them with low energy, weight gain, but in children it's a little bit of a different presentation. Children with thyroid disease don't grow very well. Their height is most severely affected. And most importantly, thyroid hormone is very important for normal brain development. And so children who don't have a normal thyroid hormone level during these critical years of development don't develop intellectually to their fullest capability. So it's very important for children to have normal thyroid hormone levels. Children with Down Syndrome can have spine instability which is most important if children are going to be participating in sports or undergoing general anesthesia, which I'll get into in a little bit. Children with spine instability can have slippage of the bones that can actually impinge on the spinal cord and cause permanent damage. 

Hearing loss is more common in children with Down Syndrome than in other children. Ear infections are very common just due to the structural anatomy in the ear of children with Down Syndrome. This is not only painful but those infections can have complications, and if the infections aren't treated adequately and fluid is retained in the middle ear, it can interfere with hearing and prevent normal speech development. Vision problems are more common in children with Down Syndrome, and obstructive sleep apnea can occur as well. Obstructive sleep apnea in children can make them much more tired during the day. They don't do as well as they can normally. They don't do as well as they could in school because they're really tired during the day. So they just don't kind of live up to their maximum potential. So because of all of these things, the American Academy of Pediatrics, which was really the gold standard by which we measure our healthcare in pediatrics, published health supervision guidelines. At the time that I started this study, the most recent publication had been in 2001. 

There had been a series of guidelines before that, so the most recent revision had been in 2001. And then during the course of this study it was revised again in 2011. And really our question was: how well do primary care providers adhere to these guidelines in our system or in other systems? And when we started looking through the literature there wasn't much research to show how primary care providers are doing. There were two studies that I was able to find, and I'll walk through them briefly. This was a study of children that were enrolled in Tennessee Medicaid. There were about 1300 children included in this study, and they did an audit of prescription filling for thyroid hormone medication. So presuming that a child had been diagnosed with thyroid disease and had been filling their prescriptions. And they looked at, this is the  rate of medically treated thyroid disease standardized to a unit of per hundred child years, but overall the rate is here on the Y axis and then time is here over on the X axis. And you can see in children who didn't have Down Syndrome, there was really no change in the amount of prescriptions that were filled for thyroid hormone medication. So, presumably, the incidence of thyroid disease didn't really change over time. 

But when you look at children who have Down Syndrome, the rate really was pretty stable up until about 2001 when there was a sharp increase in the incidence of filling of these medications and then it plateaued up here. And this was around the time that the revised guidelines were released. So one interpretation of this is that as these new guidelines came out, screening improved and more children that had undiagnosed thyroid disease were picked up and then more prescriptions were filled. So this was encouraging but really didn't give us a quantitative assessment of how well primary care providers were doing. So around the same time, a second study was published, and this was in Nebraska and Oklahoma. And this was a similar study to what we've done here, but this was a chart review. 80 children in Nebraska, 48 children in Oklahoma, and they just looked through the chart and any time a child was due for thyroid hormone screening tests, they looked to see how often that was done. And they saw only, this in parentheses here is the percent of children who had 100% compliance. So every time they were due for a thyroid screening, it was completed. And only 14% of the children in Nebraska and 13% of the children in Oklahoma had that. 

So pretty poor perfect compliance. When they looked at the mean compliance rate per child, so the percentage of recommended tests that were actually completely, it was only 45% in Nebraska and 24% in Oklahoma. So definitely some room for improvement. So our objective was to determine adherence to these guidelines for children with Down Syndrome in a high quality healthcare system. And I think Dr. Wald put this best that if any healthcare system could do this it would be ours because we really do have an outstanding group of primary care physicians here in Madison. So, this is a work in progress. We're not completely finished collecting all of our data, but so far we've reviewed 40 charts of children with Down Syndrome. I have about 80 more to do. So this is about a third of the way completed. All of the children were age 21 or younger between the time period of March 2001 and July of 2011. 

So this is right after the revised guidelines came out and ending right before the new guidelines just came out. So they were only responsible for the 2001 guidelines during this time period. All of the children had a primary care provider within the UW Health system. When I started looking through charts, there are a number of children who received specialty care here. They come here to see an endocrinologist or an ophthalmologist or their cardiologist, but they don't receive primary care here. Those children weren't included in this study. We just limited it to the children who have a primary care provider here, our children here. And I limited it to the children who were seen for at least one year of care and had at least one physical or well child exam. So somebody who was seen in urgent care here just once wasn't included in this study. These are the recommendations that we were specifically reviewing. 

I want to point out that the way our electronic medical record works, we have access to children's records only as they're seen by their primary care provider. They're typically born at an outside hospital since we don't have a birthing center here at UW, and so I don't have access to their neonatal records. So there is absolutely very important screening that's recommended to be done right away when children are born, but those records are outside of our system. So the earliest I could realistically audit or assess was the screening that's recommended at six months, but I don't want people to walk away from this thinking that screening is not recommended until six months. I just didn't have access to those records. So I was specifically looking at thyroid function screening which is recommended at age six months and then yearly thereafter. Complete blood counts which is a blood test that looks at white blood cell, red blood cell, and platelet counts, and this is screening for some of the blood disorders that I described earlier. And that's recommended yearly ages 13 and up. Cervical spine imaging is an x-ray of the neck which just looks for that spine instability that I was talking about earlier, and that's recommended just once between the ages of three and five. Audiology evaluation screening for hearing loss are recommended every six months up to age three and then yearly after that. 

Eye exams by an ophthalmologist, not an optometrist but an actual ophthalmologist, are recommended once before six months, every two years between ages one through five, and yearly ages five to one. So just some basic demographic information about the children in the chart review. The average age at the time of the chart review was about 10 years old, and I was doing most of the chart reviewing in 2012. So these children, on average, were born right around the time that the revised guidelines came out. But there was a wide range in the age so I felt like we had a good variety of age groups that were included. 65% of the charts were patients who were male, and the remaining were female. 85% were Caucasian, 5% were African America, and 10% I was unable to identify the race based on just the electronic medical record. Within the electronic medical record there's something called the problem list. So any time your healthcare provider opens up your electronic medical record, at least in Epic, there's a list. It's called the problem list, and primary care providers can add problems to the problem list so that somebody who doesn't know the patient well can just open up the chart and, in a snapshot, get an idea of what kind of medical conditions this children has or this child has. 

So I took a look at this as I was reviewing charts and just kind of jotted down how many times I saw a child's problem list contain something that was a cardiac disease, leukemia, thyroid disease just to get an idea of how medically complex the children were in this study and compare them to previous results. What I found was, I should mention that the problem list is updated only as well as the primary care provider updates it. So for some children it was well updated; for some children it wasn't very well updated. But I just thought it would give me a sense of how complex these children were. So this is our study population in the first column here, and then this is what had been previously reported. And what you can see is our population had about 50% of the children with some form of cardiac disease on their problem list, and that's right in line with previous reports. There was only one child so far that had had leukemia that was included in the study. So pretty rare in this study and pretty rare overall. Thyroid disease was actually listed on 35% of the patients' problem lists which is much higher than what's been previously reported. I don't know if that reflects good screening here in the Madison area or if we just have a different population than what's seen elsewhere. 

Eye disorders were found in about 63% of the children included in this study which is in line with previous reports. And obstructive sleep apnea, interestingly, was only listed on 15% of the children's problem lists, and it's reported to be much higher than that. So I don't know if that's an area where we're missing children. I did look deeper into the charts, and I found that about half of the children had been referred to a sleep specialist. So presumably if they had sleep apnea, it should have been picked up at that that, but that still means that 50% of them had not ever seen a sleep specialist and maybe had been slipping through the cracks. So the first imaging or the first recommendation that I reviewed was cervical spine radiographs. And, again, these are recommended once between ages three and five. And overall we had really excellent adherence with this recommendation. 95% of the children whose charts that are reviewed that were within the UW system between the ages of three and five had a cervical spine film either taken right during that time or just before it. What was interesting is I also recorded who the ordering provider was. 

And you can see about half the time the primary care provider ordered this film, but there was also a large contribution from preoperative surgeons. So kids were going in to have ear tubes places or their tonsils or their adenoids taken out, and the preoperative surgeon would always order these x-rays because if a child is going under anesthesia and there's a chance that you would have to extend their neck back to incubate them under some circumstance, you would absolutely want to know that they don't have any type of spine instability because that could definitely complicate the procedure. So, overall, really great compliance but we had some good help from our surgery colleagues with this. Next I looked at thyroid function tests, and these are recommended, as I said earlier, at six months and then yearly thereafter. And, overall, the adherence rate was about 64%. So not as good as cervical spine imaging but definitely better than previously published reports. I also broke it down by the age at the time of the testing was done. So I'm going to break this figure down a little bit for you. So don't get overwhelmed too quickly here. On the Y axis here is the percent adherence. 

So the percent of times that a child was due for a screening test and it was actually completed is here on the Y axis. And that is represented by the blue bars here. And then this is the age at testing here. And each of these time points are a time in the child's life when they're due for testing. So at six months and then yearly thereafter. So if you look at these blue bars and just kind of take a step back, don't pay attention to this red line just yet. These blue bars, the overall compliance does kind of hover around this 64%, and there's not really a general trend up or down as the child ages. So you couldn't really draw any general conclusions about that. But what did stand out to me as I was reviewing the charts, the number of times that we were seeing a six-month-old, a one-year-old, or a two-year-old was a lot higher than the number of times that we were seeing teenagers and young adults. And so I graphed this on top of this, and as you can see, there were very few encounters with children in the teenage years, and especially into early adulthood, and a lot more encounters for children who were in this infancy and preschool age. 

That really stood out to me. Next I looked at complete blood counts which are recommended yearly age 13 to 21. Overall adherence with this was less than with thyroid hormone screening, down to 45%. This is the same type of graph that we looked at before. So overall adherence is here on the Y axis and age at testing here on the X axis. And so overall, again, if you look at these blue bars, not really a general trend one way or the other. Just kind of all hovering around this 45% overall adherence rate. But again, you see the number of times that we saw 13-year-old in clinic that was due for screening was much higher than the number of times we saw a 20- or a 21-year-old in clinic. I also looked at the timing of blood draws because complete blood counts can be drawn for a variety of reasons. If a child comes to the emergency department and you're concerned about appendicitis, the child is going to get a blood draw that will include this lab test. 

And so I wondered if I could get a sense of how many of these were probably being drawn as screening tests and how many of these were probably being drawn incidentally. And so I found that about a third of the blood draws were being ordered by the primary care provider, but there was a large contributions from sick visits. So if a child came in with fever and a cough and the primary care provider needed some supporting evidence to decide how sick they thought this child was, maybe they would get this lab test to help them determine that. Children who were seen in a sub-specialty clinic, they were being followed by a hematologist or other specialty clinic for whatever reason, some kids visiting the ER for an appendicitis workup, somebody that was hospitalized and had some blood drawn at that time, blood draws with procedures. And then there 23% that were just ordered. There wasn't any associated known so I really couldn't determine why the primary care provider or the ordering provider had ordered it. So, overall I think the primary care providers are ordering the largest contribution, really, of these tests but were also getting some help from other areas as well. Next I looked at ophthalmology examinations which are recommended before six months every two years from ages one to five, and then yearly thereafter. Overall adherence rate for this was only about 45%. And this is the same kind of graph that we've looked at before. 

Overall adherence rate here on the Y axis. And if you look across these blue bars, you kind of see a general trend downward. And then here the adherence rate kind of bumps up, but it's really hard to make too many conclusions about that because the number of encounters was so low at this point. So in general, you kind of see a trend downward with this kind of outlying great compliance right here. But, again, you see this general trend. Very few kids or lots of kids seen at six months, one-year, and these preschool ages, and then as the child ages, much fewer encounters with the primary care provider. I thought that this compliance rate was a little disturbing because the previous reports have been about 60% of children with Down Syndrome had vision problems. So the fact that less than half of ours are getting the recommended vision screening is something that we really need to improve on. Audiology examinations were the last thing that I reviewed, and that's recommended every six months up to age three and then yearly thereafter. Overall adherence rate for this was actually the lowest adherence that we had at 38%. 

This is the same figure we've looked at before, just different data. Adherence rate here on the Y axis. And overall you can almost generalize that this is trending down over time. And then, again, where we have few encounters it's kind of difficult to interpret the adherence rate here. With this red line, again, you see as the child ages, much fewer encounters with their primary care provider. And, again, for this, 75% of children with Down Syndrome have been reported to have some sort of hearing impairment. So this being the lowest compliance rate I think is probably our greatest need for improvement. So overall, what we've been able to conclude so far from this data that the children with the UW system that we're taking care of that have Down Syndrome are mainly Caucasian and medically complex. And I think the most striking feature of this data is that as a child aged, they had fewer encounters with a primary care provider, and I'd love to get some feedback from the families in the audience at the end about that. We had great adherence to cervical spine imagings, but I think we had a lot of help from our surgical colleagues from that. 

Adherence was particularly low for audiology evaluations, and I think that's probably the area that we need to focus on most moving forward. So, what our goals for this project are, I'm going to continue to do the chart review and once we have the rest of the data completed, our hope is that we can identify specific children at risk. I think already we've been able to identify that teenage children, young adult children, teenage children and young adults aren't being seen by their primary care provider and I would say from this data are at risk for poor health supervision. And then to also identify some barriers to adequate care. Why aren't these children being seen? Why aren't the providers ordering the recommended screening? So, in order to do this, as we complete the rest of the data collection, we're going to try and determine if there are any difference in adherence rates based on gender, race, type of primary care provider, do family practitioners give better care, primary care pediatricians or vice versa, and type of insurance. Are kids on medical assistance getting the same quality of healthcare that children with private insurance are and vice versa. As of right now, I'm looking at a 10-year block of time, and I think it would be interesting what we have the whole set of data to look at adherence rates for each of the different screening modalities during the first five years of that time period, so right after the guidelines were published, and compare that to the following five years. And I would hope that over time the screening adherence rate would improve, but I'm not sure if we'll see that. And then we'd like to identify some ways that we can improve adherence rates. There are some things that we can do within the electronic medical record to prompt primary care providers to order tests at recommended times to make it easier. 

There are many ways that we can do that for the electronic medical record so we can make it easier for primary care providers. And I think just getting this data out to the families who need it most and raise some awareness about this problem will also contribute to that as well. So this is just a comparison slide of the 2001 recommendations and the 2011 recommendations. I just wanted to end with this since I've just given you a lot of data and reminded you about screening recommendations, but they're outdated at this point. So just to show you how they've changed a little bit. This is one of the very important newborn screening recommendations that I wasn't able to access for any of the children because they would have been born in an outside facility, but an echocardiogram or an ultrasound of the heart to look for any structural defects is recommended as a newborn in both sets of guidelines. Cervical spine films during the time block that I was reviewing charts for was only recommended, it was recommended for all children age three to five. The new recommendation is that it's only required if children are symptomatic. If they're having neck pain or tingling somewhere else or if they're going to be participating in a sport, or Special Olympics, then it would be most likely required. Sleep studies were not recommended in the old set of guidelines. 

Only if indicated. So if they were having lots of snoring at night, daytime sleepiness, something to suspect that they were having apneatic episodes at night, then you would order a sleep study. It's actually now a standard recommendation, and it should be done by age four. Thyroid function tests are recommended very frequently, and that has not changed during any of the revisions. This has always been standard across time. Complete blood counts were recommended as a newborn and then yearly thereafter. The new recommendations have changed slightly. Now a complete blood count is recommended at birth, so that looks at all three cell types. Now the new recommendation is that as children are older, one-year and up, just a hemoglobin, so just looking at the number of red blood cells is recommended. You don't have to look at all cell types anymore. 

Eye exams have changed. Interestingly, in the old guidelines, exams were less frequent, only every other year until kids were age five and then yearly. And now, as children age, they're actually recommended to be done less frequently. So yearly between age one to five and then every two years ages five to 13 and every three years ages 13 to 21. Audiology exams were initially recommended as a newborn, and this is part of the newborn screening, the newborn hearing screening test that they do in all the hospitals, and then every six months up to age three and then yearly thereafter. The recommendations have changed slightly now so that it's recommended every six months until they can do an ear specific hearing exam and then annually after that. I just want to acknowledge the Madison Area Down Syndrome Society. They gave me permission to use some of the photos that were submitted by families in the Madison area for their photo contest. So some of you may have recognized some of the children in the PowerPoint presentation. I wanted to include some pictures of kids from the Madison area in the talk and also on our posters, so I thank them for giving me permission for that. 

These are the references here. I did want to leave a little extra time for questions, and I also wanted to get some feedback from the audience, particularly from the family members, just wondering what your thoughts were about some of the data and this trend that I definitely saw stand out in the data where as children were getting older they were seen less and less by their primary care provider. Just interested to hear if you have noticed with your children that as they've gotten older, do they see their primary care provider less? Was this just kind of an artifact of the charts that I looked at or is this something that you see as well? [APPLAUSE]