"Sleep in Children with Down Syndrome" Ignacio E Tapia, MD (02/01/2023)

February 19, 2023

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00:00I have the pleasure of introducing Dr.
00:02Ignacio Tapia today.
00:04Doctor Tapia received his medical degree
00:06from University of Concepcion, Chile.
00:09He did his residency in Pediatrics
00:11and fellowship in pediatric
00:12pulmonology from University of Chile.
00:15He then moved to US and again completed
00:17his residency in Pediatrics and Fellowship
00:19in pediatric pulmonology from the
00:21Children's Hospital of Philadelphia.
00:23And then he got his masters of
00:25Science degree from University of
00:27Pennsylvania in Translational Research.
00:29He's currently an associate professor
00:31of Pediatrics at the Children's Hour.
00:34University of Pennsylvania School of
00:36Medicine is also the Distinguished Endowed
00:38Chair in the Department of Pediatrics.
00:41He also serves as a director of
00:43the Pulmonary Medicine Fellowship
00:44program and the director of the
00:46Sleep Research at the Sleep Center at
00:49Children's Hospital of Philadelphia.
00:50Is received many awards as a
00:52recipient of several grants,
00:53including from the NIH,
00:55and has authored over 70 publications.
00:57He has lectured in courses in pediatric sleep
01:00disorders nationally and internationally.
01:02Doctor tapia.
01:03Has also had leadership position
01:05in many national societies and is
01:07a strong advocate for diversity.
01:09He has held editorial positions in many
01:11publications including the editorial
01:13Board of Pediatric Respiratory Reviews.
01:15His research focuses mostly on
01:17pathophysiology of obstructive
01:19sleep apnea syndrome in Pediatrics
01:21and Down syndrome patients.
01:22Thank you so much for being with us,
01:24Doctor Tapian.
01:25Without further delay,
01:26I would like to hand it over to you
01:27to share your expertise on sleeping
01:29in individuals with Down syndrome.
01:31Thank you.
01:32Thank you very much.
01:33The invitation is a pleasure to to
01:35share with me about the sleeping kids
01:38and individuals with Down syndrome.
01:43Well, let me try you on this slide.
01:51OK. This is your my disclosure
01:55and the number that you need for
01:57the your to get your CE credit.
02:00These are my current grant funding
02:02and have significant funding
02:04from the NIH about studies in
02:06individuals with Down syndrome,
02:07such as acceptability and performance
02:09of income polysomnography.
02:11We have another one about positive
02:13airway pressure for treatment of
02:15OSA and also have another grant and
02:17where we're comparing home sleep
02:18apnea testing compared to a lab
02:21polysomnography in children with
02:22and without them syndrome and have
02:25another grant in health disparities.
02:27So the learning objectives of of this
02:29presentation are to identify sleep
02:31disorders in individuals with down syndromes,
02:33to recognize the challenges of
02:35sleep in individual with down
02:37syndromes and provide highlights
02:39of ongoing research projects.
02:41So this is what we really know
02:43about sleeping individual with down
02:44syndromes like basically not much.
02:46It's a population that had been largely
02:49understudied or actually neglected
02:51from research or clinical trials.
02:54So recently the NIH launched the
02:56include initiative which is geared
02:58towards including individuals with
03:00Down syndrome in existing trials or in
03:03trials specific for them or to boost
03:05their research for individuals with
03:07Down syndrome across the lifespan from
03:10basic science to clinical research.
03:13And going back to OSA,
03:15the OSA prevalence in individuals
03:16with Down syndrome is very high.
03:18It's estimated to be 45 to 55%
03:21according to different publications.
03:24And actually when you perform a sleep
03:26study in individuals with Down syndrome,
03:27most likely it would be abnormal,
03:29maybe not severely abnormal,
03:31but it would be abnormal per
03:33pediatric criteria or adult criteria.
03:36So based on these high prevalence,
03:38the American Academy of Pediatrics
03:40recommended in 2011 that.
03:42It's children with Down syndrome
03:44had an evaluation at age 6 month.
03:47However,
03:47the details of this evaluation are a
03:50little bit laxed and they recommend also
03:52that they have sleep study by age 4 years.
03:55However, this is a little bit difficult
03:57to accomplish because there are many,
03:58there are not many dedicated
04:00pediatric sleep lab,
04:02let alone with expertise in
04:04individuals with Down syndrome.
04:05As part of research we have been contacted,
04:07for example,
04:08from families far away from
04:10my center in Philadelphia.
04:11I remember one family.
04:13From North Dakota wanted to participate
04:15in the study and in talking to them
04:17they mentioned that the child was
04:19diagnosed with obstructive sleep
04:20apnea and they were not all for any
04:23particular treatment and were told
04:24that there it was just part of the
04:26syndrome and they have to live with it.
04:29And and so it's our duty as
04:31providers to educate the community
04:33about children in general,
04:35children with developmental
04:36disabilities and specifically
04:37children with Down syndrome.
04:39There are many treatment that the
04:41treatments that are available to them
04:43and I will show you that they're able to
04:46be adherent to some of those treatments.
04:48Importantly,
04:48this high prevalence of obstructive
04:50sleep apnea is also associated
04:52with a low rate of resolution.
04:54Many children with Down syndrome do
04:57not resolve after adenotonsillectomy
04:59requiring. Other treatments?
05:02In terms of the increased incidence or
05:05risk of obstructive sleep apnea in this
05:08population is due to several factors.
05:10One of those are anatomical,
05:12such as midface hypoplasia or glossopteris.
05:15And also they do have some factors affecting
05:18their neuromotor control of the upper airway,
05:21such as hypotonia for example.
05:23If they are really hypotonic,
05:25they're upper Airways hypotonic.
05:26Many of them have swallowing dysfunction and
05:29many of the infants have silent swallowing,
05:31swallowing. Function.
05:32We have to think that to have to be able
05:36to choke or to protect your upper airway
05:39or to or to have cough related to aspiration,
05:42you need to have certain
05:43coordination of your upper airway.
05:45The upper airway is a very complex
05:47system from a neuromuscular perspective
05:49and we are as adults and typically
05:53developing adults were able to.
05:55Talk to breathe and to swallow
05:57or drink at the same time.
05:59However,
06:00this requires a lot of coordination that
06:02is not there in children and specifically
06:05in those with developmental disabilities.
06:07Many of the patient with Down syndrome
06:09who present to clinic and they do not
06:11have other symptoms of aspiration.
06:13When you request the videos from one study,
06:16you find out actually from mild aspiration
06:18to severe aspiration that has been unnoticed.
06:21This can have effects obviously,
06:22because then you have alterations in.
06:25You mismatch due to the chronic aspiration
06:28and you can have profound desaturations
06:31with the associated obstructive events.
06:34Also,
06:34we have to think that many of the
06:37children may develop obesity and have
06:40also hypothyroidism that may contribute
06:42further to obstructive sleep apnea.
06:45We know that obstructive sleep apnea in.
06:48Children without them syndrome is
06:50also associated to neurobehavioral
06:52deficits such as executive function,
06:54for example systemic hypertension.
06:56They have possibly elevated
06:58cardiometabolic risk.
06:59My colleague here in the endocrinology,
07:02Andrea Kelly,
07:02has authored several papers about
07:04that and there's a possible link of
07:07on treating OSA with early dementia
07:09in the general population.
07:10This has to be further studied in
07:13individuals with Down syndrome.
07:15This slide that was linked to
07:17me by one of my colleagues.
07:18And UCLA.
07:19And they do analysis of the EEG,
07:22like big data analysis of EEG.
07:24This is our adults without an syndrome
07:27who have OSA and who do not have OSA.
07:31You have there the numbers how
07:32they were pair and they came up
07:35investigators with an aging index,
07:36right?
07:37An aging index that as
07:39as the the person ages.
07:41There's certain signals in the in
07:44the EEG that allow investigators to
07:46come up with an index and they see
07:49that chronological age they have.
07:51If you see here in the Gray axis in the
07:53Gray color with the confidence interval,
07:56there you have how this brain index
07:58is that it increases with age,
08:00but it's not super, super significant.
08:02However,
08:02in those who always say start
08:05to increase a lot with age.
08:07So that means,
08:08for example,
08:09an individual who is 50
08:10years old and has untreated
08:12obstructive sleep apnea has a brain index
08:15that is older than the same individual
08:18without obstructive sleep apnea.
08:20So this is a theory that may link on
08:24treating obstructive sleep apnea with
08:26the appearance of early dementia or
08:28Alzheimer likes in individuals with
08:30Down syndrome as early as age 30.
08:32And this is what we're further investigating.
08:36So we know that in specifically
08:38in Down syndrome police,
08:40hypnotherapy improves in only a portion
08:42of children after adenotonsillectomy.
08:44So it may well be that police have
08:46monography is not the best outcome,
08:48it's the outcome that interest
08:50US physicians or scientists.
08:52But it may may not be the outcome that
08:54is interesting for the family or for the
08:57daytime functioning of the children.
08:59We need to investigate more about
09:01what is their data and functioning,
09:04what is the importance of quality of life.
09:06What are the car you metabolic outcomes
09:09and what are the family center outcomes?
09:11So based on this,
09:13because they don't resolve some
09:15individuals are referred for initiation.
09:18So what next with with that information,
09:21we have a lot of unknowns in
09:23Down syndrome and OSA.
09:24For example,
09:25in terms of diagnostic diagnosis and
09:27treatment of sleep disorder breathing,
09:30we have the possibility of Indianapolis
09:32of Monography that I was referring
09:34to there also unfortunately
09:36for obstructive sleep apnea.
09:38And there's no like like a point
09:40of care tool, for example,
09:41a hemoglobin A1C that we can say,
09:44OK,
09:44this is your risk or cholesterol
09:46or whatever thing that you can
09:47do in blood or urine.
09:48They have to go to the left PSG to
09:51know whether they have uh OSI or not.
09:53Also it is unknown what is the role
09:55for in home screening or diagnosis or
09:58homeless sleep apnea testing for example.
10:00It is also known whether Athena
10:02tonsillectomy is the first line of
10:04treatment or whether it is the the
10:06best indicated treatment for everybody.
10:08Maybe some kids would improve with
10:11advance electronic but some others need,
10:13some others need to go to CPAP
10:16or other other therapeutic.
10:17Weapons such As for example inspire
10:20and they're also lack of randomized
10:23control trials in children with
10:25Down syndrome specifically.
10:27Also a patient centered outcomes is
10:29something that we don't know what is
10:31the most appropriate nerve behavioral
10:33testing and the lack of harmonization
10:35between the different groups for
10:37conducting research in the population.
10:38Also as I explained before,
10:40for example,
10:41police of knowledge is something that
10:42we love is sort of an easy outcome.
10:44However,
10:45if families may experience different
10:47challenges that are more important for them.
10:49Then those of typically developing
10:51children and also families may be
10:53interested in smaller strides is
10:55something that I I see a lot of
10:57families with Down syndrome and I
10:59have learned so much from from them.
11:01One family I remember we were talking
11:03about starting CPAP and I was explaining
11:06the desensitization process and
11:07how it's progressive and etcetera,
11:10etcetera.
11:10And I remember mom told me we we we
11:13go for the 1%, she said it's
11:15something that we have learned.
11:16So whatever we do, we do PT or OT.
11:19Any milestone that we need to reach,
11:21I go for the 1% and won't give it to that 1%,
11:24we move to the next 1% and things like that.
11:27So we have to consider that maybe the
11:30time that it takes for them to arbitrate
11:32to any therapy that we may want to
11:34institute is a little bit longer.
11:38So what are the challenges, right?
11:40We have testing that is required
11:42for diagnosis and that is a major
11:44challenge because of availability.
11:46Also because it's the rest for the family,
11:48they have to come with other siblings
11:50or pay for someone to take care of
11:52the other kids while the family is
11:54overnight and sleep lab also this
11:56expensive and you have to come from
11:58from far away for example for the
12:00lab there are many costs that are
12:02associated with that also the tolerance
12:04is something that has been discussed
12:06at length by several publications that.
12:08Children with Down syndrome may
12:10not tolerate the setup.
12:12In my personal experience that our
12:14center the checks are fantastic.
12:16They have a great expertise in kids
12:18with developmental disabilities and
12:20most of them get to tolerate the entire
12:22set up as a workshop show show later.
12:24But that may not be the case everywhere.
12:27So also it is important to note that
12:30research has shown that for example
12:3290% of children with Down syndrome
12:34that would that they of children
12:36without the syndrome,
12:37sorry that were treated with that.
12:39They're just selectively for
12:40presume obstructive sleep apnea,
12:42never really had a sleep study.
12:44So the question is did they really
12:46have obstructive sleep apnea,
12:47did they really have,
12:49did we really require the surgery?
12:51And then tonsillectomy is one of
12:52the most common surgeries performed
12:54in the United States,
12:55but it still has some complications.
12:57That are not frequent,
12:58but when they occur they're very
13:00upsetting such for example hemorrhage
13:02pains and families need to be readmitted
13:05to the hospital due to the hemorrhage.
13:07So the risk benefit of it has to be
13:09further studied in this population.
13:12Based on this we they actually one
13:14that I have that I'm copying with my
13:17colleague Andrew Kelly from endocrinology.
13:19We decided to study the tolerability,
13:21the family reported perception and
13:23experience of feasibility and also the
13:25accuracy for diagnosis for moderate
13:27to severe obstructive sleep apnea or
13:30type 2 homeless sleep apnea testing.
13:32So for that we selected a device
13:34that could give us the same signals
13:36like 90% of the signals that we have
13:38in lab and polysomnography but at
13:40home and we're working with the.
13:42Device that the picture is there
13:44is there is more.
13:44You will see it in the next picture
13:46how it it is there with the kid
13:48and you see here the technician
13:50is holding the device in the kids.
13:52This is a kid with Down syndrome
13:54who is having
13:55the setup that we do in the lab and
13:57then they go overnight to their
13:59house and they have the home sleep
14:01apnea testing in a different night.
14:03They have an in lab police of no
14:06graphy and we compare that we recruited
14:08children 10 to 20 years and we also
14:11we did a questionnaires about that.
14:13These are the videos that I want to share
14:16with you that we did specifically about
14:18the setup in the hospital of a in lab
14:21polysomnography about what to expect
14:23and the one for the setup setup at home.
14:25The videos have been very informative.
14:27Families have been like very thankful
14:29for us to provide the videos to them
14:32so they can work with the children and
14:34explain to them what to expect overnight.
14:37So the 34 kids were tested when I was
14:40doing these slides and the median
14:42age is there is 16 years.
14:44In addition to the homeless sleep
14:45apnea testing the little device
14:47that you that I showed you before,
14:48they were this response socks
14:51that is connected via Bluetooth.
14:53And we had a median or a child that was 14.2.
14:57We had a full range of 4.8 to
14:5922.8 events per hour.
15:01Of the kids, what you see, many of them,
15:03I mean of most of them were not,
15:06did not have normal sleep studies.
15:08And the total sleep time that we have
15:10in the lab was about 6 point at home,
15:12sorry, 6.3 hours.
15:15In terms of the questionnaire
15:16that we ask the families about,
15:18how did it go,
15:20they said that 94% reported that it took less
15:22than 15 minutes for them to set up at home.
15:25What we do in the lab,
15:26we put the EEG leads,
15:28the the eyelids,
15:29we put the belts and then we send
15:32them home with the cannulas.
15:34They demonstrate to the family
15:35how to put the candle at home,
15:37and the family has only to put the
15:39candle and to put the ball socks.
15:41The system that we sent at home because it
15:43was geared toward sleep disorder breathing,
15:45we did not send the families
15:47home with leg leads.
15:48However, it's something that we could do.
15:49Also,
15:50the home sleep apnea testing
15:52right out-of-the-box does not
15:54have the availability of measure
15:56entitled CO2 or transcutaneous CO2,
15:58however,
15:58is something that you can do with a with a
16:01device that you adapt and connect to that.
16:03But we didn't want to do that.
16:04We didn't want it to be as simple as
16:06possible so it could be reproducible.
16:08Also you can see there that
16:10the ratings that families.
16:11Provided in terms of placing
16:13the hands oximeter,
16:14the cannula or anything
16:16come off overnight are high.
16:18Things may come off overnight
16:19like the ball sacks for example.
16:21However families were able to to replace it.
16:24They think that the test was
16:26usable for them and overall the
16:28experience was already as good or
16:30very good by 87% of the families.
16:33Then we finally analyze all the data.
16:36We submitted this paper for publication
16:38and we're waiting for to hear from the
16:41journals and we ended up recording 63 youth
16:43for participation of of them some decline.
16:46We consented 43 to participate and of
16:48those 40 completed the study procedures.
16:51So when I hear our children with Down
16:53syndrome they cannot do PSG and say no,
16:55we do have data they can only
16:57three were unable to complete the
16:59complete the study procedures.
17:00One was unable to complete
17:01the eight set and meaning by.
17:03Enable means that sometimes the
17:05family didn't want to you know when
17:07you all provide research and you are
17:09gonna be paying for that we we have
17:11one family that really wanted to do
17:12only the anlap polysomnography and
17:14the research slow down so earlier
17:15and then you know went to anything
17:17with that and the other just didn't
17:18want to proceed with the PSG and one
17:20family consent in that ended up not
17:22doing any any of the procedures.
17:24So in terms of which test was
17:26easiest for you as you can see there
17:28most people consider that the home
17:30sleep apnea testing was easier for
17:32them and this is very important.
17:33It's not that we want to necessarily say
17:36that every kid with Down syndrome needs
17:38to have a home sleep apnea testing,
17:40but we are working hard to prove
17:43is that options are necessary,
17:45the choice of families to decide
17:47what test is the best for them.
17:49For example,
17:49some families may prefer for whatever
17:51reason they in lab tests are not
17:53willing to put anything at home,
17:54or they don't have the the right setup at
17:56home to contact the study perfectly fine,
17:59they can go to the lab.
18:01Most of the people may be able to do
18:04it at home. Which states do you prefer?
18:06Most families also prefer home
18:08sleep apnea testing.
18:10Which test was easier for you?
18:12You know, most families also mentioned
18:13that homeless sleep apnea testing,
18:15I'm sorry, was easier for the child.
18:16So it appears that home sleep
18:18apnea testing is feasible and well
18:20accepted by their families.
18:22And importantly,
18:23regarding the correlation with the inlab
18:26apnea obstructive apnea hypopnea index,
18:28we have there the 95% confidence
18:31intervals in Gray and the fitted
18:33values in the line in blue.
18:35On the X axis,
18:37we had them in lab polysomnography
18:39obstructive apnea hypopnea index
18:41on the Y axis on in orange,
18:44we have the home sleep apnea testing
18:46and we can see that the correlation
18:48is very high with the high sensitivity
18:50and very high specificity,
18:52something that is very important
18:54to point out.
18:55When you do a test and you are
18:57going to decide if you're a pedic,
19:00if therapeutic you're going to have
19:03therapeutic decision with that test.
19:05You know what matters is in the case
19:07of will say it's not necessarily
19:08that they compare one to one,
19:10that for example if I do have 30
19:13here or HIV in the inland PSG,
19:16I have the same 30 into 8 set.
19:18That's not what really matters.
19:19What matter is that with 30 for example
19:22in the inland PSG I will say OK,
19:25your kid needs treatment and if they
19:27have 20 in the homeless lipner testing
19:29most likely I would say the same.
19:31So that will really matters is that
19:33we provide families that opportunity.
19:35Integrated home and eventually you
19:36know our dream would talk about all
19:38all the time about this would be
19:40that when we had these families from
19:42North Dakota or the coming far away,
19:43they want to participate,
19:44we should be able to ship them the
19:46device and to partner with the Sleep
19:48lab there who can do the setup or
19:50neurology office or something like that
19:52and then we can read the study remote.
19:55We're not there yet.
19:56Another point that is is very important
19:58is that the total sleep time at
20:00home was significantly different,
20:03like an hour longer than the PSG in the lab.
20:06And this is very important because
20:08if you have awakenings,
20:09the more sleep you capture the better.
20:11And in the lab as you know them,
20:13at least here around 6:00 or 6:30 AM
20:16they start waking up everybody because
20:18the the the shift ends, people leave.
20:20However at home they can start
20:23the the sleep when they want.
20:25The usual time and they can wake up at
20:28the usual time and that's why we had
20:30longer sleep time and that provided
20:33us more data, more RAM mostly too.
20:36And this is a child with Down
20:39syndrome and CPAP.
20:40You know, typically parents say no,
20:42they will not be able to use it.
20:43And then we have, you know,
20:44if you have a child of three years
20:46or so or two like this little one,
20:48you know that there's no coercion in
20:50the world that would make her look,
20:52smile with the mask,
20:54anything.
20:54It's just not really having a
20:56good time at that time.
20:58So with that I will change gears and
21:00I will talk a little bit about the
21:02other brand that we have which is
21:03part in children with Down syndrome.
21:05So this is a an initiative called
21:08an R6133 and the R61 is preliminary
21:10work to launch a clinical trial
21:12that happens during the R33 phase.
21:15So what we do for the R61 study,
21:18we do the qualitative study where we
21:20interview 20 families in Philadelphia
21:22and 20 families in Cincinnati
21:25because it's a two side study,
21:27the parents of children with Down syndrome.
21:29Unattractively Batnaya,
21:30who had been treated with CPAP or
21:33Bipap for greater than six months
21:35to see what their experience was
21:37to to inform the development of
21:39the randomized control trial that
21:40we're doing now.
21:43So the strategies that we have
21:45to increase Bob use in any child,
21:47but specifically in those with developmental
21:49disabilities and Down syndrome is
21:51to meet the families where they are.
21:53We cannot tell them, OK,
21:54you need to start using this every night.
21:56Now we know that some families
21:58might be able to, most will not.
22:01So we'll start with the
22:03desensitization process.
22:03We work closely with
22:05behavioral psychologists.
22:06We have great partners in behavioral
22:08psychology embedded in our team.
22:10They streamlined the bedtime routine.
22:12So it's important that the family.
22:14Have established bedtime
22:15routine that can work for them.
22:18It cannot be something prescribed that
22:20it can be and to use the mask initially
22:23during an activity that the child enjoys.
22:25Sometimes they like to call with
22:27the parents or they like to watch
22:29specific cartoon for example to do
22:31that and to do the role modeling.
22:33So something that's positive
22:34every time that the word the mask
22:36and the world falls apart,
22:37it's like if you're doing
22:38potty training with your kids,
22:39like yeah, this is amazing,
22:41etcetera,
22:42something that you receive positive feedback.
22:44Most likely you will continue to
22:46do and that's what we have to work
22:48with the families and the parents.
22:50When the parents buy in,
22:52everything runs very smoothly and
22:53many times our job or the job.
22:56This psychologist is like to convince
22:58the parents that they can do it,
23:00that they're able to do this.
23:03So we have different sessions per day.
23:05What we do for them to start using path,
23:07for example,
23:07to begin with an activity that
23:09is calming and enjoyable.
23:11Anything that they like to do,
23:12like the tablets, help a lot with that.
23:15For example,
23:17praise the kid a lot with clapping
23:19or positive reinforcements and
23:21with and as I said,
23:22and also remind them that the adult
23:23would be the one taking the mask off of.
23:26Let's put the mask on, it doesn't matter.
23:28It's 5 seconds.
23:29We're going to build up on that time,
23:31little by little until they get.
23:32Used to it.
23:33Basically all kids and all of us who
23:35were children we were looking at for
23:37our parents and looking for their approval.
23:40So that's where we have to work
23:41with the bond of the caregiver.
23:46So we also said that they need
23:47to try to ignore the negative
23:49behavior similar as potty training.
23:52For example, try to stay calm and positive
23:54gently got the the the hands out if
23:56the kid wants to remove the mask during
23:59the desensitization process and repeat
24:01the same task until the child is cooperative.
24:04Typically we do not recommend that they put
24:06the mask on once the child is in deep sleep.
24:09It would work for the treatment but
24:11for one hour or two, but then we all
24:14have awakenings during the night.
24:15And if you have something
24:17that you didn't have,
24:18when you fall asleep you don't have that
24:19association and you will remove everything,
24:21which is worse.
24:22So it's better to create the
24:24association during sleep time with
24:26the interface and the headgear,
24:28and then things will roll good.
24:31And these are some of the quotes that
24:33I have there of the families that
24:36participate in the R61 phase of our study.
24:39We divided them in those who are higher
24:41rent or low adherence and you know,
24:44they they provide great input for us.
24:46Like for example,
24:47let the child dictate the timeline
24:49gives some ownership filled with
24:51the personalizing of the machine.
24:53In their case, they bought a ribbon.
24:54We all the time say with the
24:56families to the kids, OK,
24:57this is your machine,
24:58this is you or you're going to give it
25:00a name and people come up with the most.
25:02Surprising name.
25:02You know I learned so much and
25:04that's what I like working with kids
25:06and also families say they need to
25:08figure it out how to make it fun.
25:09Families have said that their
25:11children are more visual and they
25:13that's why we developed the videos
25:15so they have something with that.
25:17We also develop social stories
25:19with the name of the kid.
25:20OK,
25:21this is Johnny.
25:21I'm going to work his CPAP and this is
25:24for Johnny doing his bedtime routine.
25:25He's sort of like that that we materials
25:28that we provide for the family.
25:30You know,
25:31some parents have reported that the
25:32idea that would be good to write a
25:34book about children with sleep apnea
25:36always say so other families can help
25:37with that and also the importance of
25:39role modeling of having someone who
25:41looks like them to come up with that.
25:43So it's something that I ask of
25:45my patients who are of age or
25:47participating in social media
25:48with Down syndrome who are bad.
25:49And, you know,
25:50you will be surprised because
25:51many do and say OK, do you TikTok,
25:53do you have Instagram? Ohh yeah, I do.
25:55OK.
25:55So why don't you do one when
25:56you're wearing your mask,
25:57you will be helping so many children,
25:59you know, social media.
26:01There's so many tentacles that
26:03we don't know of.
26:04It would be way more empowering for kids
26:06with Down syndrome than seeing them.
26:08They're seeing a kid without
26:10developmental disability of the
26:11doctor playing with the machine.
26:13If I do it, nobody will. I won't.
26:15I won't get any hits, you know,
26:16Tick Tock will most likely will fire me,
26:18but with the kids will be better.
26:21It's also to do the positive reinforcement,
26:23as it will, as we said there,
26:25to make it fun,
26:26to get them to make it play with the mask,
26:29to make it, make it them, be familiar,
26:31that is part of them and also
26:33something that is so important.
26:34Every family, but even more so with those
26:37with developmental disabilities is the
26:39importance of social support in both.
26:41In kids who were adherent or and
26:42those who were not adherents,
26:44families reported that the
26:45family has to work as as,
26:47as a group that many times
26:49is too much on the parent,
26:50that parents is typically the
26:52man and they have to to work
26:54with some other person you know.
26:56So they can take a night off.
26:59Both parents have to be in the same
27:02in in the same page on the same page.
27:05And this is data,
27:06a retrospective data from our lab over
27:08cohort of children with Down syndrome
27:10that we have followed for two years
27:12and we are analyzing how is their
27:14path trajectory of adherence over time.
27:16And you can see there in we have the
27:19different groups in blue from zero to
27:21six months from initiation to six months
27:23after that then you read six months to 12,
27:26green 12 to 18 month and
27:28orange 18 to 24 months,
27:30how the percentage of nights use differ
27:32and then we can see that actually we.
27:35Of a very good experience that in
27:37between zero to six months the
27:39median is about 40% that increases
27:41to two years then tend to decrease
27:44a little bit in in 12 to 18 and then
27:46finally sort of becomes the median
27:49around 60 something percent which
27:51is pretty good actually I could
27:53say it's very comparable of kids,
27:55two kids with developmental disabilities.
27:57However,
27:58we also have to look at there are
28:00certain outliers you have have here
28:02that you can see here that the whiskers.
28:05There are people who still have
28:070 adherence 2 years into it.
28:09So those kids in my opinion, after year.
28:12So they may need to consider something else,
28:14inspire or any other therapy.
28:17And also there are people who are
28:19overachievers and they're almost 100%
28:21at the very beginning and they keep that way.
28:25This is presents the minute
28:26use on the Knights use.
28:28It's the same color and you
28:29can see that also is something
28:31that improves overnight that we
28:33started with around 150 minutes
28:35and then we stabilize around 240
28:37or so minutes in the median.
28:39The interquartile range is is
28:41very variable but it goes up to
28:43400 minutes or so and also there
28:45was no difference between them.
28:46The the time intervals.
28:51So in conclusion,
28:52we have that sleeping individuals with
28:54Down syndrome has not been well studied.
28:56OSA is very prevalent and more trials
28:59for treatment of OSA are needed.
29:01Also of our data from home sleep apnea
29:03testing is that I do really think that
29:05it has a role well in all children.
29:07That's another study that we're doing now.
29:09But in children with Down syndrome
29:11specifically because families are so happy
29:13that this study can be done at home.
29:14Some of the things that we notice is that
29:17the the setup of the device that we use,
29:20the Type 2 device that we use.
29:21Is that the the whole process
29:23imagery was being removed overnight.
29:25The thumb shape of children with
29:27Down syndrome is a little bit
29:29different that the that the sort of
29:31gloves setup that the device have.
29:33So sometimes we have to recommend
29:34to families that they can tape
29:36it and also they can use like a
29:38Band-Aid on the net before so.
29:39So to get used the kid that they
29:43have something in their finger.
29:45In terms of future research,
29:47what is the best home screening
29:49tool instead of device? Is it?
29:51What is something that we can do?
29:53So someone, a family, comes to me and say,
29:55you know, I want to scream.
29:56If my child needs to come to the sleep lab,
29:59maybe they don't need to come.
30:00And it's something that we can do every year.
30:02Like I was mentioning,
30:04like a cholesterol level
30:05HBA 1C that we don't have.
30:07Is something coming from omics,
30:09is something coming from a device.
30:11It's the combination of both.
30:12Is it a questionnaire?
30:14We don't know for sure.
30:15Also we need randomized control
30:17trial of eight side individuals
30:18with Down syndrome we're doing that.
30:20Our trial is comprehensive,
30:21the one that we're starting.
30:23Also we need data-driven screening
30:25algorithm that is something so important
30:27and we need all to work together and
30:30use data this harmonized for example
30:31and I uh came up with nahh toolbox so
30:34people can measure their behavioral
30:36in kids without them syndrome.
30:38We have used it also in kids
30:39with Down syndrome,
30:40but it's mostly for kids
30:41without Down syndrome.
30:42So if you have a,
30:43a,
30:43a research and you're using that
30:44tool and using the same tool.
30:45Eventually you know there's a big
30:47thing about data sharing right now.
30:49We can harmonize the data and
30:51and and analyze it better.
30:53And something that to me is very puzzling
30:55and I want to continue working in the
30:57future with that is the relationship
30:58between untreated OSA and aging,
31:00premature aging or Alzheimer's
31:02in individual with Down syndrome.
31:05This is my linked into our code if you
31:07want to be my friend in LinkedIn since
31:10you know I'm not a tick tock star.
31:13And thank you.
31:14And these are all my collaborators
31:16and I'm happy to answer any questions.
31:22Thank you Doctor Tapia for
31:24that very interesting talk.
31:26If anybody has any questions,
31:28please feel free to ask Doctor Krieger.
31:32So over the years I've seen children and
31:37adults with Down syndrome who also have
31:40right to left cardiovascular shunts.
31:44What has been your experience with them?
31:46Because they're hypoxic from their shunt.
31:50I wonder if you can just tell us about that.
31:52Yeah, we do have some, but I would
31:55say that mostly now the youngest kids
31:57have been all repaired very early on.
32:00So it's not something that we see that often.
32:02The older kids is something that we would
32:04see and in that case many times we have
32:07to use some oxygen with PAP or something
32:09to to to have some some values that
32:13they would that would be like suitable.
32:16But what is more important is to
32:17know what is the baseline saturation
32:19from the cardiology. Visits.
32:20So we based on that for example a
32:23kid with right Shawn comes to the
32:25lab and we tell the technicians we
32:27put there in the note for example
32:29baseline saturation is 85.
32:30So we know that they don't mark every
32:32event because also we have like some
32:34guidelines that need to call us.
32:35They would be,
32:36they would be calling me every night.
32:37You're not saying they'll be saturating
32:39so you know they they have to go with the
32:42three or 4% but according to their baseline.
32:45Thank you.
32:47Great talk.
32:48Thank you.
32:52Hi, I have a question.
32:54Hi Doctor Tapia, great talk.
32:57I have a lot of kids with Down
32:59syndrome in my practice with sleep
33:00apnea that we manage with CPAP
33:02and in my experience it seems like
33:04there's almost 2 populations.
33:05There's a population that
33:07is wonderfully adherent,
33:09like the most adherent patients you can get,
33:12and then there's kids that really have
33:14a lot of difficulty tolerating it.
33:16Whatsoever, do you think it's
33:18more patient factors or parent
33:21factors that are kind of driving
33:23success or failure in patients?
33:26I think it's a mixed, you know in
33:28the research I show part of the data,
33:30but unfortunately something that
33:31we see all the time in anything
33:33that is sleep related and wearing
33:35my hat of health disparities,
33:37there's a huge disparities within
33:39the education of the family and
33:41that unfortunately somewhat linked
33:43to race in the United States.
33:45We do see that.
33:47Any parents who are more educated
33:49or more affluent?
33:51It goes better everything.
33:52I think it's a combination
33:54because they have more support.
33:56They're able to have a job that
33:57maybe 5:00 or 6:00 PM there at home
33:59and they can dedicate this time.
34:00If I were working two jobs and from
34:02here I had to go to another place
34:04and do this and that I get home,
34:06do I really want to deal with
34:08all the stuff most likely now?
34:10So I think it's it's it's a combination.
34:12You know I see a lot of Hispanic
34:14families that they do not speak English
34:16they came to see me specifically for
34:18and I do remember saying that mom and
34:20the mom told me it will never happen.
34:22I don't know how to do it.
34:23The the kid is difficult, have the
34:26developmental disabilities and whatever.
34:27And we had to work with that
34:29man to put that confidence.
34:31And when she did it,
34:32like it took like a year.
34:33And that hearing was super good,
34:34not perfect, but super good.
34:36And we told her, you know,
34:37you did it and we believed in you
34:39and you believe in yourself and and,
34:42you know,
34:42she started to cry and we didn't know
34:44what to do because she started to cry.
34:46Oh my God.
34:47The first time that someone
34:48had said that to me, you know,
34:50there are so many things the way.
34:52I went to Med school because I like
34:54science I didn't know anything about.
34:57You know, I also grew up in Chile,
34:58so I didn't know any relation,
35:00was pretty homogeneous were
35:02all Latinos and everything.
35:03So I didn't know anything about
35:05all this difference or anything.
35:07I was super pretty naive.
35:08So but now I see all the importance of
35:10the social determinants of health are huge.
35:15And I would ask, I want to sort
35:17of correlate question to you is
35:18how successful clearly some of our
35:20children just need more time than
35:22three months to work on adherence.
35:24How successful have you been doing
35:27with home care companies because?
35:30We've had, we've had a fair amount of
35:32inflexibility sometimes and having
35:34to do extra studies simply to re
35:36demonstrate the children have sleep
35:37apnea and we know that they do.
35:39It just seems like a big waste of time.
35:41It's a huge waste of time.
35:42Typically we some comical companies
35:44you know they require like a recent
35:46within six months or so sleep study
35:48and it happens that Johnny had
35:49a six month and one day ago and
35:51then you have to reorder right.
35:53It's it's ridiculous.
35:54So yes and also the other thing that
35:56we have with home care companies and
35:58this happened just yesterday seeing.
35:59Finally that that was all convinced,
36:01starting CPAP now with the pandemic.
36:04Before we could start,
36:05we would bring the home care company here
36:07and we would start here doing the initiation.
36:09Turn off the Machine was a full day
36:12visit whatever, not with me all the time,
36:13but with the team and with the pandemic.
36:16Now what happens is that the home Care
36:18company delivers the device at home.
36:19That's the teaching at home.
36:21And then when that happened,
36:22we do the initiation here because we're
36:24not allowed to turn it on the device.
36:25And then we have to close the
36:27room or whatever thing.
36:27And then that came and he said,
36:29you know, everything was super good.
36:30You guys provided me with a mask
36:32or we're playing with that.
36:33The home care company came up.
36:34They deliver a box home.
36:36This is your staff home.
36:37This is your Mac. Where is the kid?
36:38Bam.
36:39On your face.
36:40Ohh, I don't like it. You have to wear
36:42it. If you don't wear it,
36:43like in 90 days.
36:44We build the family with
36:46whatever thing you know,
36:48how long it takes to undo the wrong.
36:52It's it's like in impressive.
36:53So now actually we just had a
36:55meeting that we're talking about
36:56that here like an admin meeting
36:57and said we need to talk to the
36:59leadership of those companies to
37:00like smooth them or like be friends
37:02with them so they can understand
37:04what it is because they don't know,
37:07they have zero idea you know.
37:10Yeah, it's, it's like all the home care
37:12companies are so strapped right now.
37:14We've seen a lot of consolidation and lately
37:17actually just don't mean to hijack this.
37:20We've had a couple of kids giving
37:22older machines with without online
37:24monitoring because there's such a
37:26backlog of people needing machines.
37:29So then some, my mom came in
37:30with an SD card and I'm like,
37:31I I haven't had an SD card reader
37:33in 10 years, you know? It's crazy.
37:36We had this semester, it's the same
37:37stuff and you know we're doing and this
37:39is an NIH drive that we were doing and
37:41by now we're supposed to be finished.
37:43And luckily while they understood
37:44it's not our business,
37:46but with the CPAP recall,
37:48we were like super delayed,
37:50like enrolling like one every quarter and
37:52we had to be like 8 or something like that.
37:55But we are there continuing
37:57with with the study.
37:59Thank you. This is great work. Appreciate
38:01it. I see someone asking can you speak
38:03about the physiological traits of OCD
38:05about patient with that. OK yeah.
38:07So you know that the physiopathology
38:08was says a combination of the muscular
38:10factor with an atomic factors.
38:12I will talk about the studies done in,
38:14in, in, in typically developing kids
38:16because the same study have not been
38:18reproduced in kids with Down syndrome.
38:20When I talked to one of the Down
38:22syndrome foundations about that I
38:24would be interested in doing that.
38:25They almost have like a heart attack.
38:26So I'm not bringing up the idea.
38:29That soon, but I will tell you
38:30what the studies are.
38:31So to study the neuromotor function
38:33during sleep, we do have to do
38:35negative pressure during sleep.
38:37So you have a CPAP machine.
38:38This is adapted to provide negative pressure.
38:40And basically what you're doing,
38:41you're sucking air out up to some
38:44point that you don't have flow anymore.
38:46Yeah, since this is sleep group,
38:48I can tell you there's a way of
38:50doing it very fast that will show
38:52us what is an active response,
38:54a fast response to the negative pressure
38:56apply or a low way or or a stepwise way that.
38:59Will elicit like the slow response
39:02of the this the flow volume curve.
39:04So eventually you apply so much negative
39:06pressure that you don't have any flow.
39:08And when you have zero flow that
39:10is the critical closing pressure
39:12of the upper airway.
39:14The studies in typically developing
39:16children without obstructive sleep
39:17apnea have shown that you need to apply
39:20negative pressure that are super high.
39:22Extrapolated to like minus 100
39:24to close the upper airway,
39:25the device goes up down to minus
39:2825 centimeters of water.
39:29However,
39:30in those who have obstructive sleep apnea,
39:32you can you you can elicit the peak
39:34rate and minus 15 or things like that.
39:36My impression if I were to do that in
39:39kids with Down syndrome is that they
39:41would have critical closing pressure
39:42of the upper airway close to 0 or
39:45positive values close to adults.
39:46But those studies have not been done.
39:49Now in terms of the responsive to
39:51inspire your inspires is fantastic.
39:53However, it is not for everybody.
39:56You need to have a certain anatomic
39:58obstruction that is showing in dice.
40:00To be candidate for inspire.
40:01And the other thing is that the
40:03large trials inspire in adults.
40:05They show a reduction,
40:06immediate reduction in the OHI of 50%.
40:08So it doesn't mean that it will be cured.
40:11So let's say if I had a child with
40:14Down syndrome who had an OH, IO50I.
40:16Wouldn't be OK with my child
40:19having another child 25.
40:21I wouldn't my child to have
40:23closer to 0 or less than five.
40:26Cpap does that, but it has to be adherent.
40:29So for me, the first line,
40:32yeah,
40:32I mean we still do an option selection
40:34until we prove that it's not for everybody.
40:37But it would be like after
40:38that would be like
40:39CPAP with all the bells and whistle,
40:40the psychologist, whatever,
40:41if that doesn't work out
40:43that eventually inspired.
40:44But with the cabinet that inspire may not.
40:47Cure you and also many of the kids
40:49were now are part of this trial
40:51inspired trial here they wake up
40:53during the titration and so we are
40:55not able to get to the to the output
40:58in millivolts that we want because
41:00the kid wakes up with the inspire
41:02other complication that it has now
41:05the important thing is not not use
41:06this and don't use that or don't
41:08use public use inspire whatever.
41:10The thing is that we need to
41:12continue developing more alternatives
41:13so people can have options.
41:14Right now for example I have a headache
41:16I can take Tylenol I can take.
41:17Military, I can do this,
41:19I can do whatever,
41:20but you have always saying you
41:21have a developmental disability
41:22and your son was stuck.
41:24So that's our role to advocate.
41:28Make noise and make people visible,
41:30you know, if they're not visible.
41:33Nobody cares.
41:35Thank you.
41:35We have some more questions.
41:37And Doctor Tapia,
41:38this is from Doctor David Angel.
41:40Do you have a preferred interface
41:42you use with this population
41:44given their facial anatomy?
41:46It depends so much on the size of the kids.
41:48So many times the WISP works well like
41:51like only nasal typically then we prefer
41:54to start with the nasal interfaces.
41:56Now when we have proved that
41:57the kids have for example,
41:59like a strong mouth breathing and
42:00despite the high pressures they they're
42:02not able to have nasal breathing,
42:04then we will go to oronasal.
42:06But with Oronasal we we need to
42:08have some assurance that someone
42:09is with the kid overnight just in
42:11case they have vomiting and they may
42:13not be able to remove the the mask.
42:17OK. There is a comment,
42:20thank you for a great talk
42:21and a question by Sony.
42:22Vejar any collaboration with
42:24dental medicine like mandibular
42:26advancement, appliances, we we
42:29have not actually collaborated with them
42:31officially like on the research realm.
42:33We have collaborated with them clinically
42:34and eventually we do send patients there,
42:37but it's the minority of our patients.
42:40Something that we didn't touch up on because
42:42it sort of discredited his tracheostomy,
42:44something that I typically do not
42:46indicate for OSA, but I had a patient
42:48referred to me already years ago,
42:50like four or five years ago that was had
42:52a tracheostomy 4 was saying that different
42:54institution and mom came here because
42:56she wanted to decannulation her and go
42:58to now parental situation or whatever.
43:01The kid was never able really to use PAP.
43:05However, all the studies with the
43:08tracheostomy open are amazing.
43:09So you know then you have to.
43:11Have the conversation that I have with
43:12this family, you know the kid is treated,
43:14we are safe track is not pretty.
43:17It has some complications and a
43:19lot of things, but it's treated.
43:21So we have to evaluate when that happens,
43:25you know whether it's worth to the
43:27candidating everybody or not some people.
43:30Might not be able to.
43:31It's something to consider,
43:31you know,
43:32I think there's a treatment or of there's
43:35room for every treatment in these cases.
43:41I have a question for you.
43:44You shared some excellent strategies
43:46to use with patients with kids with
43:48Down syndrome and the usage of CPAP.
43:50Do you have any such recommendations once
43:53they transition to adulthood? You know,
43:55in terms of compliance using the app,
43:57yes, well typically we try to transition
44:00them when they are already adherent.
44:02It doesn't happen all the time.
44:03So continue doing what they what
44:05they are doing and for adult,
44:07I think they have less allotted
44:08time maybe to see the patients,
44:10but it would be to.
44:11Continue with the positive
44:12reinforcement depending on the
44:14developmental stage of the kid.
44:15Now with the apps are super friendly
44:17and they all played some sort of
44:19video game is to show them look
44:21when the app shows green amazing
44:23like something that they like to
44:25do for example like a small token
44:27economy you want works really well.
44:31Thank you. Any
44:34other something?
44:34Yeah, my my last point of words of wisdom
44:37that I learned from my own patients.
44:40You know what we were doing the R61 study,
44:43the qualitative interviews is for caregivers.
44:45And then parents start to just say,
44:47oh, you want to talk to me,
44:47you don't want to talk to the child.
44:49And between us we were talking,
44:51can we talk to the child?
44:52And then we decided why are we so stupid?
44:54I mean we should talk to the children
44:56and let's see what we come up with.
44:58So now in the continuation and
44:59the randomized control trial,
45:01we put some qualitative
45:02interviews and the end of the.
45:04Of the sessions,
45:05and we're talking to the parents
45:07about the trial and to the kids.
45:09We know that maybe not every
45:10kid will be able to participate.
45:12Sometimes the the parent will sort of
45:14translate what the kids want to do,
45:15but we don't go to the source.
45:17I don't feel that we can advance the field.
45:19So it's something that we have
45:20to get rid of this story of,
45:21of by proxy of thinking that
45:23we're smarter than the next
45:24person because it's just,
45:25I don't think it's true.
45:29Great.
45:31Any other questions?
45:36Well. Thank you so much for sharing
45:39your work and this wonderful talk.
45:41Doctor Tapia, thank you so much.
45:43Thank you for the invitation.
45:44Have you a good day, you guys
45:46enjoy the snow. Thank you. Bye.