CMD SciFam: Orthopedics Physical Therapy and Exercise with Mina Jain, David Roye, David Spiegel

CMD SciFam: Orthopedics Physical Therapy and Exercise with Mina Jain, David Roye, David Spiegel


instance his respiratory trial it’s even
harder to get people to do exercises and to track that over time so the research
is very limited and the child generally are we’ve been you know four to six kids
maybe twelve kids at the max and all the results come to a conclusion that
there’s insufficient evidence to show that it’s helped or not but basically so
I don’t want us to say not to do any exercise there we go but I think it’s
still important to incorporate exercise as part of your lifestyle whether it be
something simple as stretching or aerobics and we’ll kind of go through
some of that let me take it – okay so I’m not going to go through the
contracture management because I’m hopefully dr. Roy or dr. Spiegel will
talk about it so basically I wanted to talk as exercise should be component of
three components one is stretching strengthening and aerobics so stretching
because we want to make sure that you are maintaining proper range of motion
and/or in hopes to avoid a contracture and as you many know contracture
management is one of the most difficult challenges that you have with collagen
six disorders the the use of stretching equipment through standing frame splints
bracing I’m not going to go into very much detail about that because that is
all specific to everybody child specific but these are the things that you would
want to use in conjunction with everything else so again this is a three
pronged approach for managing physical activity and children the next one is
has to do with strengthening could be isometric I active and then strengthening
so strengthening could be using something as simple as bands could be
used water and I’ll go into some equipment in terms of water based
therapies and then the last last but not least is aerobics so not only do we want
to do exercise for strengthening and stretching but also for heart health
we’re also having to live with longer and you need to be able to make sure
that you have fitness levels improved in those levels so that’s why I
encourage everybody to be involved in some type of aerobic activity and we’ll
talk about some of that later on so how many now this is what my student helped
me make these slides so how many Robins have partnered with Batman I did not
know this answer so he tells me five so but then I asked him how many Batman’s
have there been so I don’t know about that so anyway so I’m going to go
through these really quickly but basically just to give you an idea of
how many articles there are this one this is a systematic review of standing
frame exercise of standing frame recommendations for children with
cerebral palsy so these researchers they scour the literature they went through
seven databases they found over 600 articles and only 300 articles actually
met their criteria for inclusion and basically what they said even after
reviewing the articles there was insufficient evidence to show that these
things works but having read all these articles they said that we still
recommend 60 minutes a day to decrease hamstring tightness of a standing frame
60 to 90 minutes a day to improve bone density and then 60 minutes today to
improve hip biomechanics that’s a lot of time so even if you did
90 minutes a day that’s 90 minutes out of your day daily for the bone density
so I don’t know very many families doing that and again again to try to get that
into a research study to be able to follow it over time it will be very very
difficult to have someone to follow through so then this is another study
that with the specifically with boys with Duchenne and they only had four
boys in this study so that was difficult and then they just took a weekly stand
time the weekly staunton range from one point three hours to three point three
hours so if you take stand of one point three hours over seven days a week
that’s barely 20 minutes a day maybe even so again they showed that there was
insufficient evidence to show that it helps with bone density so I’m going to
just kind of quick through all these this is using upper extremity for
strengthening for boys again they had 30 boys a 24 week intervention they
used assisted bicycle training for arms and legs and they found that it was
feasible and safe and it helped to slow down the decline of the boys upper
extremity function so this is something that I’m actually looking at and more
and more in terms of upper extremity movement and a monitoring monitoring
upper extremity activity and then I’m going to talk about that a little bit
later so making you wait for all this the teaser this is a new study that I
saw that you know just recently the 2017 and little kind of interesting so they
were using a home-based exercise program so like a Fitbit or not a fit but I’m
sorry a Wii Fit or a Kinect system to do some exercise training and children and
they use a polar monitor which is a commercially available monitor that
runners used to check their heart rate and what they found was that it was
actually it was safe to use and it was cost effective is what they were trying
to say stay to compare it using the polar monitor which is polar heart rate
monitor which you can get from Sports Authority not Sports Authority because
they’re bankrupt but Dick’s Sporting Goods you can get it for about 150 bucks
versus a halter monitor which is very expensive so what they were trying to
show that it is feasible to use at home so I think what they’re trying to
encourage is for a therapist or clinicians to try to start you
incorporating this as part of an exercise program for the home-based
exercise program so gaming is a big thing now using connection the Wii I
like the Connect better because you don’t have to have a controller it’s the kid
that’s controlling and so that’s something that I’ve actually I have to
ask the parents on the side is it okay to do gaming system and then we talk
about connect this is a study that was attempted in in the UK and it was to
look at a water-based therapy and they I think they tried to I think was over 346
boys in the UK and only 12 boys to participate in this study and then
overall they had 12 kids but eight kids that did the aquatic base and four kids
that did the land-based therapy and again it can concluded that it they
didn’t have enough evidence to show that the water-based therapy was helpful but
it is something that I recommend a lot and for the children as water based
exercise because it’s safe it’s helpful in terms of strengthening and kids like
it so that’s another it is a it is a challenge to get the kids to the pool so
that’s something that we have to be mindful of so and then this is another
one looking at upper extremity strengthening this is using another
device called a motomed its motomed it’s in upper extremity or ergometer or a
lower extremity or ergometer and if the child has is weak then it will take over
the device will take over and pedal for the child and then when you have a
little bit of strength the the child can pedal the bicycle the upper extremity or
lower extremity so this was this study showed this is also recent it showed
that ergometer training did improve endurance and ADL performance didn’t
have a chance any change in strength but it was only
an eight-week study so that’s not a long enough time to to make sure that you
have changed in strength so I’m again I’m going to just go to go through all
this because this is basically that shows you how few studies there are the
fact that I can put them all in one slide one slide show but a lot of these
are insufficient insufficient evidence so let me just go through all this and
last one I think this one okay so back to this one so again so I don’t have
much evidence to show you that exercise is helpful but we know it’s helpful and
it’s good for for psychologically also for the kids because this is the one
part of their life that they have control over for adults or children I
don’t have control over in terms of what’s going on with the disease process
I have developing contractions but I know that I can change my strength by
doing it so this is the one thing I spent a lot of times
with the kids to let them know that having mom and dad do the range of
motion is only making mom and dad stronger it’s not making you stronger
but you have control over your strength so it’s very important for you to be
able to do this so I have to make sure that I get the buy-in from the child to
participate in an exercise okay so I’m going to talk a little bit more about
this but exercise that first appears to be safe we spend a lot of time talk
about inspiratory muscle training so I’m not going to talk about that the one
thing that we talked about about is the eccentric muscle contraction and this is
what we have learned from the Duchenne literature there’s nothing in the CMD
literature about its eccentric muscle contraction so all of our exercise
recommendations are based on what we’ve seen in the Duchenne population so
eccentric muscle contraction is if I take a weight and I lift away best
contrast a concentric but then if I lower that weight that lowering that
weight is eccentric muscle contraction which is unsafe and kids so kids with
much Duchenne so we are using that and as a global like for all kids that we
are not going to recommend that so it’s very important to make sure you do that
and then we talk about high resistance training just small weights light
weights high repetitions is what we would recommend for them and then
avoiding exhaustive maximal exercise and then lastly more research is needed but
but I’m not going to talk about that a lot okay so stretching I’m going to just
go through a bunch of little so these are all exercises that I’m sure you’ve
seen in the past everybody has given you you’ve gotten
them over and over again from your physical therapist and your kids hate to
do them you hate to do them you hate making them do it so but my my feeling
is that if you can find one or two exercises and if your therapist is the
cognizant I think it’s important for them to incorporate in your daily life
this is really important if I try to recommend them to do thirty minutes of
stretching every day it’s never going to happen
I have a rule of three and I stick to that rule of three no matter
happens I only give three exercises and if they can go so I it’s my job to
figure out what is the most important and I try to make sure that the kids are
able to do it by themselves if not it’s not by themselves then when they’re
doing something else if they have to do some heel cord stretches do it
while you’re brushing your teeth most kids hated to brush their teeth
anyway so do that with it or hamstring stretches while watching TV there’s a
way to do a long sit stretch while you’re watching TV or playing your game
or something I find but there’s a way to incorporate in your day to day activity
which is the most important I feel that that’s what’s going to keep the
compliance in terms of doing stretching exercises which everybody hates and the
other thing that one of the physicians that I work with she’s very insistent
you must do for 30 seconds and I’m like I get bored in 30 seconds so if I can
get ten seconds to do the stretching that I think it’s a good start so this
is for stretching all right next contribute Wonderwoman use her which
last so yes if you watch the recent work among you would have done that too okay
so we talked about the stretching now we’re talking about land-based exercise
and I break it up as land base and water base because water base is the most
optimal place because the kids are more buoyant and if you have a little bit of
strength and at least you can get some strengthening in there but also to
recognize if there’s we live we don’t live in the water we live out of water
so we still have to do land-based exercises so they’re broke it up as
passive active assisted isometrics active and resistive so what is passive
range of motion passive range of motion is literally like stretching and making
improving or maintaining a range of motion there is no strengthening on that
part that is all the strength of the parents and the only one that’s getting
stronger is the parent so I really am NOT a big fan of passive range motion
active assisted is when the child is doing a little bit and then the the
caregiver is helping as well so you can use devices equipment some kind of
ways to do these exercises isometrics is just a way to strengthen the muscle and
without moving a joint at all so a lot of times with kids with contractions
that’s what we may have to do just do isometric exercises and then I already
talked about active and then resistive so those are just the range of exercises to
do this is kind of a schematic that we have in terms of okay I don’t know how
to anything so I’m just going to pretend so if you as you get stronger you move
towards more difficult exercises so those the highest the most difficult is
the one where you have to do recreational aerobics PREs isometric
strengthening stretching but then as you are if you are weaker than you have the
active assisted range of motion and then on the bottom part is the amount of
strength that you have gravity eliminated as if you’re doing in a
position where gravity is not pulling on you so when I’m standing up bringing my
arms above my head gravity is working against me and that’s harder for me to
do this exercise so if you want to kind of the therapist should kind of look
towards what would be the most feasible exercise for you or your child okay so
what is Aquaman’s amazing power that he does not have I did not know any of this
so he does not have complete control over the water I did not know that so
okay so the next has to do with water base so there’s a lot of equipment that
you can that is available for someone to do strengthening in the water so just
walking in water itself is very beneficial but then using equipment
flippers these are hand dumbbells these are like wrist weights kind of things
and these these are use in your hand and as you increase your surface area makes
it harder so that’s the strengthening in the water that’s what you want to do and
then to make it fun you play basketball Marco Polo flippers for
their lower extremity and then volleyball and then noodles noodles can
come in variety ways and they’re very helpful so okay so this is a another
trivia group is part of which one guardians of it okay and I have a little
what happened today I have a video for that one yeah if it went if it works I did it
it’s not water there we go oh well sorry it had group dancing because that’s my
favorite that’s my favorite of aerobic exercise too for kids who can do it
either sitting or standing but music is the best extra so way to exercise you
have a beat you have a consistent beat something more enjoyable than just doing
it to extra – boring old exercises so this is one of the things I always
recommend and then not only just dancing but singing there’s another one for
vocal wind instruments I tell parents I would recommend a tuba but they would
kill me so we go with flute or recorder so these are some other examples of
things so walking is a very good exercise for the kids that can’t walk
biking whether it’s the arm bike or a leg bike so recumbent bicycle stationary
bike and then the arm bike so they have these bikes that you can put that you
get that is you sit in a chair and you you pedal the the the wheels I guess
it’s the pedals and but you can take that same little bike and put it on a
table then use it for your upper extremity so that’s very fairly cheap
it’s about thirty dollars you can get it from Amazon the only thing about that is
that it doesn’t have any kind of resistive component it’s just for just
pure aerobic and just moving in your arm through space so and then swimming we talked about that this is towards the last this is it last
but not least activity monitoring so this is a big thing there’s a lot of a lot of
buzz on activity monitoring everybody wants to get into the game so there’s
lots of devices so there’s the research brands or the actigraph actipal
and then the APDM which is another inertial sensor that we have been trying
at NIH so the actigraph and actipal are
very expensive and generally used as part of research studies but then the
commercial grades are the Fitbit the Nike FuelBand Apple watch there’s many
many others out there actually I’m wearing one right now it’s just a ring
so for the women who don’t want to wear a Fitbit it’s a piece of jewelry so you
can do that so one of those things that I plan to do is to have kids in a
wheelchair use it on a daily basis to see how much upper extremity movement
you’re getting the only problem with these devices with the commercially
available ones is there’s an algorithm algorithm that looks at them in space in
three-dimensional space so unless you’re actually moving forward in space it’s
not recording but I played around with my my ring and I was just wave my arms
around and I talked with my hands a lot so it did pick up a lot of activities so
if I can find devices like that then I might start including it as part of some
of my trials for the kids the engineers will give me a hard time about it saying
that you know there’s a lot of noise in these devices but I feel like you have
to start somewhere and that’s something that I’m willing to start with so okay
what team does Professor X mentor I don’t know the excellent oh I guess so
professor X has okay so this is the last few slides so these
are different I don’t really want to spend a lot of time talking about
different seating options and equipment options but just to keep that in your
mind that to you there are a lot of different devices so a lot of times I
get families come in and tell me that I I’m using this and a lot of times I
don’t know about it because there’s such a huge turnover and the types of
equipment that’s available that sometimes I’m learning
and I’m educating being educated from you but just to keep in mind there’s
lots of seating options there’s a lot of standing frames available out there so
my favorite are the ones that are more mobile they tend to be more expensive of
course there is an organization out there and I didn’t have that in my slide
but you might want to write it down it’s called passiton. org they are a lending
library they receive donated equipment and then they will give out equipment
for families in need so these are sometimes it’s a very good place to
start with trying a new piece of device if they have it available it’s an it’s a
a national organization and then they will let you know if there’s a
Passiton Center in your area so very helpful for them and then the last bit
is the gait trainers so there’s multiple multiple gait trainers and then of
course the last that is the wheelchair sports just recommending that everybody
do that so I do not know this superhero who is a superhero needs firestorm so
okay so this is my last slide so there’s not a lot of research to show that
exercise is beneficial but we know that exercise and activity is very very
important so early assessment intervention is very important for
contracture management avoid muscle soreness for fatigue a lot of times
families will ask me how much should I do
I don’t have an answer for you but my answer to you will be how much whatever
you do today and if tomorrow you’re sore than what you did today was too much so
it’s not so they’re not able to in the time know that this is too much
activity but over time you you figure out that you know I we went downtown we
went to see some sights at the mall and you know I was riding around in the
wheelchair all day long and then I’m really really exhausted today so
yesterday maybe those five hours that you’re in the mall was really too far
and maybe you should only cut it down to two or three hours so that’s kind of how
we would temper in terms of how much activity to do avoiding eccentric
exercise and the high resistance encouraged activity
especially aerobic exercise and then incorporating into your daily routine
that’s also very important and my the most important is the therapy holiday as
a physical therapist I’m telling you it’s okay to do physical therapy
holidays really really important for everybody as a family to just just chill
out and do nothing so it’s better – it is important to incorporate that in your
year there are times when it’s very very important to stay aggressive in the
therapy maybe after surgical intervention maybe after a long term
prolonged illness then yes then you need to be aggressive but then there’ll be
time when it’s okay to just chill out and not do therapy and that’s okay I I
feel like as a where I am at work at NIH I can make that recommendation a lot of
times you won’t hear that from your physical therapist because it’s a
revenue-generating but but it’s very very important I think
for everybody to take a therapy holiday okay so I wanted to thank everybody I
want to thank CureCMD for inviting me I hope I’m I was able to provide you
with some little pearls and then this is the last slide so thank just standing here I’m going to contract
my my bicep muscle and just hold it there so that’s why so much a
contraction okay she can do probably leave yes exactly
yeah so just holding in place or just so for your leg it could be like instead of
kicking out just kind of trying to hold it so that it’s in a kicking
positions but it’s not really kicking out and then just holding your head in
place that’s kind of that’s isometric contractions for your next mouth muscles
so that’s very helpful so that’s very important to maintain whatever strength
you have point from a physical therapists point of view she’s never seen anybody like Jordan and Jordan unique in
her disability because the most people that they see core strong and then as you
get out you get weaker. Jordan is just opposite Her fingers are stronger than her
wrist and her wrist is stronger than..And she’s never really experienced that. and so she really doesn’t know what the care plan should be I mean
she she does myofasccial releases you …know um so there are there are no
recommendations but my email was there and you can take my email and I forgot
to point out that you are everybody is welcome to email me later on if you had
any specific questions but that yeah I don’t have any in terms of what to
recommend to you to tell your physical therapist in terms of how to work on a
strengthening but I can talk to you about that later and then we can have a
side conversation sorry. Hi everyone I’m David Roy and I’m a pediatric orthopedic
surgeon I work at Columbia in New York City and I’m going to talk about
scoliosis management and cmd’ my partner David the other David is going to be
talking about everything else I’m only going to focus on the scoliosis question
so there’s a this is a recent study in Neurology that summarizes the natural
history of orthopedic complications in CMD and and this was a study of 125
kids and with a mean of 10 years follow-up and the orthopedic conditions
that were noted included scoliosis that appeared at a mean of about 7 years of
age and included three kids with congenital scoliosis meaning a building
block problem that’s not necessarily related to the underlying diagnosis and
17 of that 125 had scoliosis surgery so for a rate of a more or less 15% and
almost all had respiratory impairment at the time of the surgery achilles
tightness was also noted in a large number over half but only 4% had surgery
to lengthen the Achilles tendon and about 7% had congenital hip dysplasia
and that group only three were had had
surgery and then eleven of the group were diagnosed with foot deformities and
the there was again not many of them were treated with surgery so that’s
where we are where we are just in terms of the numbers but the problem is this
is a slide that almost everyone who talks to you puts up because it’s the
CMDs are have a low incidence and there’s an insufficient evidence base to
guide treatments and it leads to variability in care most orthopedic
providers don’t have the experience in treating patients with CMD and we’ve
heard that comment from you today already and I hear it every time I talk
about the problems so surgery when surgery is contemplated you know what
are we looking for what are the indications for surgery what are the
goals what is the prognosis and how are we changing the child and what kinds of
surgeries do we have that might be offered so the indications are again are
individual and have to be related to the child’s quality of life and the child’s
function is the deformity progressive is there other skin issues well the surgery
that we’re proposing extend life what did the patient what does the patient
want what does the family want are we seeing decreased function are we seeing
decreased endurance we also have a preventative side to some of the
scoliosis surgery that we’re doing that perhaps we’re preventing respiratory and
gastrointestinal decompensation and then is the patient in general good health at
a baseline where nutrition and respiratory status will be heard that
comment from you today already and I hear it every time I talk about the
problems so surgery when surgery is contemplated you know what are we
looking for what are the indications for surgery what are the goal
what is the prognosis and how are we changing the job and what kinds of
surgeries do we have that might be offered so the indications are again are
individual and have to be related to the child’s quality of life and the child’s
function is the deformity progressive is there other skin issues well the surgery
that we’re proposing extend life what the patient what does the patient
want what does the family want are we seeing decreased function are we seeing
decreased endurance we also have a preventive side to some of the scoliosis
surgery that we’re doing that perhaps were preventing respiratory and
gastrointestinal decompensation and then it’s the patient in general
good health at a baseline we’re nutrition and respiratory status will be
adequate to sustain surgery so and again is that simply going to extend life, improve
the quality of life and all the alternatives to surgery and and to turn
the question around do we really understand the risk of not operating so
this is particularly a problem when it comes to treating the spine and then we
have to measure the outcome of our surgery and that we can have several
outcome measures one will be the level of function ease of care is also a way
of measuring outcome positioning and skin and hygiene the presence or absence
of pain is another way looking at complications and how difficult the
surgery was on the child and the family and what I think really vital is quality
of life assessment because what really matters is not whether the x-ray looks
good or whether the wound heals well it really what really matters is how the
child is and has function been improved as
breathing been improves as positioning than made easier action of deformities
maintenance of bone health management of pain education and dissemination of
information on therapy we had questions about that today to provision of
assistive technology to maximize function and access to appropriate
specialized orthopedic management when it’s necessary and directing patients
toward research studies as appropriate so that we can get the information we
need on outcomes and on the efficacy of our interventions so scoliosis does
exacerbate respiratory function and can help contribute to thoracic
insufficiency syndrome so that we have to think of the spine as being part of a
whole it’s part it’s attached to the ribs and attached to the diaphragm so we
have the entire respiratory mechanism involved here it’s not just our view
should not just be to the blue part of the spine itself it’s especially
important for kids with these mutations because they have a higher risk of
respiratory problems but the treatment of course is not isolated to one group
of CMD kids scoliosis is more common in children who have axial weakness
weakness of the trunk which makes all kinds of sense because if you don’t have
a strong core you can’t maintain yourself against gravity and so there’s
a tendency for the curves to appear and progress there’s I always mentioned this
and I know that all of you to a person probably know this already but I
always mention it that there’s a higher risk of malignant hyperthermia in
patients with congenital muscular dystrophy and it is it the suspicion is
even increased if there’s a strong family history previous difficulties
with anesthesia and of course the RYR!1 mutation
which is a real important risk of for malignant hyperthermia so it can be
spontaneously too non-anesthesia provoke something to keep in mind
particularly in patients with the RYR1 related myopathies so the our patients
are particularly susceptible to some perioperative complications again and
this would be for almost any a surgical procedure but airway complications
problems with pain control it’s a it’s a it’s a very delicate management problem
because since the kids have respiratory depression anyway we don’t want to give
too many painkillers that would further depress respiration when you’re trying
to get the kid breathing on their own so pulmonary complications prolonged
recovery times and of course bed rest and the surgery itself can produce
deconditioning so we’re just talking about the need for exercise when I
operate on my patients with CMD I’m preventing them from exercise for a
period of time hopefully no more than about a week but it’s still it’s still
substantial common comorbidities which need evaluation our GI nutrition and we
need to make sure that the the child is getting adequate nutrition of course
that respiratory function has been maximized and we have to remember that
there are cases of primary cardiomyopathies and patients with CMD
arrhythmias and even transient cardiac failure so this is something which we
need to attend to before major surgery as we see in the spine so what we know
about the prognosis and this is I would describe as the not so good news the
condition CMD have respiratory depression anyway we don’t want to give
too many painkillers that would further depress respiration when you’re trying
to get the kids breathing on their own so pulmonary complications prolonged
recovery times and course bedrest and the surgery itself
can produce deconditionings we were just talking about the need for exercise when
I operate on my patients with CMD I’m preventing them from exercise for a
period of time hopefully no more than about a week but it’s still it’s still
substantial common comorbidities which need evaluation are GI nutrition and we
need to make sure that the child is getting adequate nutrition of course
that respiratory function has been maximized and we have to remember that
there are cases of primary cardiomyopathies in patients with CMD
arrhythmias and even transient cardiac failure so this is something which we
need to attend to before major surgery as we seen in the spine so what we know
about the prognosis and this is I would describe this the not so good news the
condition CMD is not static so I got it I’m not hearing hello hello okay? the condition is not static a huge
change and we don’t have high quality long term studies to document
that and the three areas of progression are in ambulation respiratory function
and scoliosis this is from my orthopedic so these are all things that we need to
be watching for and it’s too many neuromuscular conditions even though the
condition is not progressive in the usual sense the effect on muscles and
growing bones accumulates with time and size so that the kid whose weak muscle
adequate for running around in the three four five may not be adequate for
running around who makes our self 30 40 so these are things we keep are eye on. So surgical treatment I’m not gonna get
technical just make some comments about this is the reason for concern if you look
in the first year like the whole thorax locates about less than ten percent of its
adult size and by age two you can see that the a large proportion of the
alveoli have have formed the alveolar liberation growth of the air sac and if
you look at a five year old the chest wall is only 30 percent of it’s adult size
and then by age eight you see that it basically
has reached this plateau of alveolar alliteration so that all the fitting
this room had our adult number air sacs in our lung when we were 8 to 10 years
old and then so we want to maximize that during the first 8 years so that point
was so concerned about early onset scoliosis in CMD patients so aboutage
ten you can see the rib cage is about fifty percent of normal and it’s not until ATM no
patients have that result . So again keeping the kids growing is an important role so when do we think about surgery
ongoing progression with curve greater than thirty and because we want to avoid
loss of ambulatory skills we want to not CPC sitting endurance and we don’t want
to see that short trunk which is resulting a GI respiratory and cardiac
function problems and never forgetting about a pain because pain is a product
of spine deformity so the surgery decision algorithm is an observation every six
months with X-Rays as indicated considering spine brace for the first between 20 to 40
degrees again that’s determined by the agility of the childhood tolerated
the timing consider surgery when curves are greater than 35 degrees and
likely to progress because of growth and strong indications for surgery in
progressive curves that over 40 degrees though non-surgical treatment
also exists we have physical therapy in chair position devices TLSO and soft
postural braces may delay surgery bracing can improve functional stability
and the maintenance of the position in the chair and and many braces have been
developed to accommodate comfort respiratory function and and g2 function
so the so improving function would include sitting balance and upper
extremity use and it doesn’t arrest the scoliosis but it may delay curve progression let the kid get older and bigger and it that may delay the need for definitive
treatment but and allow for lung maturation of … and trunk growth but
this is wheelchair modifications and soft final orthoses can be used
casting can be used this is an example of crest rolls that can help to lift the
ribcage out of the pelvis and control the brace migration and level the pelvis
and we this is an example of such a brace and braces that can help control the
overall posture of the child also can be used as she can be effective
so the risk factors that influence surgery so promoting surgery is age and
skeletal maturity and so if a child has skeletally immature and young when the
curves appear we are more worried how the pelvically about more than 50 degrees in
other words the pelvis is not level and and then our goals of care and
quality of life he would be included as well the discouraging of surgery are things
that the co-morbidities that exist in many of our patients CMD and
including infection pulmonary issues cardiac issues and malnutrition successful surgery makes positioning
sitting easier and the the gauge of success really need these surrogate
outcome measures that we talked about as burden of care or quality of life
and not the the appearance of the x-rays it’s really
how the parent caregiver and the patient gauge their quality of life after
surgery so here are some surgical options I’m going to discuss we’ve
talked a little bit about halo traction infusion and growing rod and pelvic
fixation We use more and more halo it’s it’s very effective in reducing extreme
deformities and particularly the deformities that are in the satchel and
that is to say kyphosis where the … lines going out in back. it’s really
hard for us to it’s really hard for us to correct kyphosis with the
existing systems a particularly growing rods so we would use traction sometimes
for a couple of weeks in the hospital in order to correct there’s often an
amazing improvement in pulmonary function when we put the kids in
traction it kind of lifts whole ribcage off pelvis and helps with this pulmonary
function posterior spinal fusion is
the what we do these days we really don’t do the anterior surgery anymore
and it’s a I think that if anterior surgery is recommended you should
perhaps question the surgeon about that because it’s really not
where we should be going the curves of fifty to ninety degrees that are
progressive or interfering with sitting or standing balance are the curves that
we’re going to be fusing patients between general over ten years of age
under 10 years of age will be doing likely and growing systems and patients with stable
nutritional and medical status fusing to the pelvis is very commonly done these
kids with CM D and it increases kyphosis and changes in lower spine and these days we use a technique that puts
the head of the screw under a lot of soft tissue so there’s less problems than what we
used to have problems with pulmonary function the posterior spinal
fusion is the we do these days and we really don’t do internal surgery
anymore and it’s I think that if interior surgery is recommended you
should perhaps question surgeons about that because it’s really not where we
should be going the curves of fifty to ninety degrees that are progressive or
interfering the sitting or standing balance are the curves that we’re going
to be fusing patient …. magnetically controlled growing rods the
ones that we use are called magic with a name which I hate because they aren’t
magic but they the lengthening procedure is very simple we simply the kid is
outpatient a device is put over the rod and the acutuator then lengthens the
rod so there’s no surgery it doesn’t hurt so it’s a it’s pretty cool so it
minimizes one of the main issues of growing rods which is recurrent surgery
which can produce trauma and the kid and can increase the number of infections
complications risk increased
by 24% for each additional surgery procedure so it’s a that’s a big jump so
it’s nice to avoid that early results have been favorable with reduced number
of surgeries and comparable correction just a just our experience now is going
on to four and a half years almost five years and we have 48 patients and what
we’re noticing now though is it always follow up is always humbling we’re
seeing more actuator failures in other words the little device that does the
lengthening and if that fails then we have to take out that $25,000 implant
and put a new one in which is not not good for our patient so with that is
something that again it’s not a cure-all solution to the problem there is very little in our literature
that’s just about CMD this is a paper from Japan which a case series of ten
patients that showed the good outcomes at two years post-op and this is a look
at what surgery does to measured FEC and you can see that if you look at this we
get an improvement right at the time of surgery and then at two years a decrease
and you say well then why am i why am I doing this the fact is that if left
alone they’re likely be a drop-off as well
and probably more and again it’s it’s really hard to get these studies done
in most kids they really can’t cooperate with the standard pulmonary
function exams so again this is another reason that we prefer using the
pulmonary domain on quality of life type instrument which is I think more telling
and those we’ve seen we improvements particularly in our
patients with SMA after these surgical interventions so kids with CMD have
complex healthcare needs and obviously as you’ve seen here they need that
multidisciplinary involvement in addition they need an integrated and
coordinated transition to adult care and this is really a problem it’s one that I
have addressed at Columbia with the creating a center that provides lifespan
care so we and it’s hard because once your kids it’s a you know it’s into
their 20s a lot of the pediatric providers are not able to to help you
anymore so so as a as a lifelong care provider
of children and now adults as well with neuromuscular problems most of my
regrets looking back over my experience have been kind of my failure to be
proactive you know my sins of omission if you will as opposed to my sins of
commission so I’m but so I’m I do advocate for active follow and active treatment
of my patients and I would tell those of you sitting out there with CMD keep it
up even when you’re an adult and more or less in charge of your own
health care don’t just stop going to see the doctor so thanks a lot should we take a couple of questions now
Rachel okay yeah in the back excuse me I don’t speak really good girl English but
I was just try to understand if any of this the surgery for the same or for hips
the knees or anything like that for the bone .. if the kids they have
Col6 how it is worked with the kids they have Col6. well
David’s going to be talking about hips and knees and feet and and things like
that so we’re going to get into that and you saw from the article that I
discussed briefly that the even though these deformities exist in CM D
they’re not usually treated surgically and and the reasons are the ones that I
was mentioning is because the assessment for the need for surgery is around the
function of the kid that whether the kids having pain whether the contracture
or dislocated hip is interfering with positioning or function and if the if
these problems are not creating functional issues or pain and perhaps
the best way to treat them is not surgically is with conservative care but
David’s going to be discussing that no flexibility in the trunk it looks
like perhaps her pelvis might be off-center off-kilter is there a at this
point in time from your research and your knowledge is there a follow-up
surgery to kind of how do you say coordinate what’s a permanent rods in
her back with her pelvis so it’s aligns better so in general both
with the I mean what we advocate is with growing rods and with the posterior
spinal fusion is to take the instrumentation infusion to the pelvis
to control that it isn’t always done that way and so if it’s not and the
pelvis is free to move then there’s a it’s possible for pelvic obliquity the
tilt of the pelvis to increase with time and if it’s in interfering with function
so if it’s causing pain for instance or that the individual is weight-bearing on
one hip or the other seating is becoming increasingly difficult it can be revised
to the pelvis nodes we’re capable of doing kind of adding on to the to
correct the pelvic obliquity but it’s it’s it is a major major surgery and so
it’s we don’t do it very frequently we have to have good reason to do it which
would include again seating pain skin problems so you talked a lot about treatments for
scoliosis how do those treatments apply to
lordosis and other spinal deformities that are attributed to the right so
there’s we think it true that when we’re talking about this we say scoliosis and
don’t specifically address the sagittal plane which is the sideways plane and
lordosis is always an issue in CMD or I shouldn’t say always but very frequently
as an issue as is kyphosis and so that all of those have to be addressed so one
of the ways in the early onset and the more severe deformities that we try to
help that is with preliminary traction so as you kind of lift the child in with
the traction device the the sagittal plane also stretches out so that’s one
way to treat the other thing that we we we try to do we want to leave enough
lordosis particularly in the ambulator that the gravity line gets back because
if we put them if we correct too much then there’s a tendency for the kid to
fall forward so it’s a real balancing act but we we can in a sense and we can
put these multiple screw fixation devices that we use now we can kind of
put the spine where we want it in three dimensions the the other thing that can
interfere with that is the quality of the bone and how fragile the child is so
if I’m in the operating room with a CMD patient with any patient you know my
first consideration is safety right I want to get get her off the table safely
without excessive blood loss without doing things that are going to
metabolically challenge the recovery so sometimes that interferes with our
ability to actually get as much correction as we would like that often
leads to to mention that I always tell parents that we’re going to do our best
to get this done today but if if it’s not safe and if I’m worried about
anything in terms of our monitoring or blood loss we’ll just stop
let the kid recover for a week and then come back and finish um yep yep the uh
yeah yeah please is bracing the gold standard or the standard of care for
CMDs for treatment of scoliosis I seem to be getting somewhat mixed messaging from
our medical team as compared to what I hear at events such as this or
researching online yeah we are starting to it’s interesting my short answer is
yes I think that bracing should be tried and it’s again it’s a very much an
individual thing that our kids that just flatly don’t tolerate it and the and I
think that and there are kids who in whom the curve just keeps progressing
despite our attempt to brace but there are a term it a substantial minority
that do benefit and again it doesn’t when you look at studies that have been
done to where you use surgery as the outcome so you have you know two groups
of kids one group of kid is braced and your only outcome is surgery yes or
surgery no you have another group of kids who are braced as surgery yes so do
we know so that criteria bracing doesn’t help so it’s kind of like in other words
the kids still end up with surgery but it that surgery may be a couple of years
delayed which would be substantial in terms of growth and development it the
delay also means that we have more bone to work with and you know so technically
it’s a little bit better so there are some advantages to that even though it
may be that the bracing is not going to be definitive it still can be very
helpful I have a question of so there’s a huge drop-off in the number
of tetherings is being done in North America because of complications and
failures this number one to know we’re talking about AIS of course it
typically developed children I’m you know this is me personally I’m against
it because you have to go through the chest to tether so if you’re operating
on the vertebral body you have to do a thoracotomy it mean even if you’re doing
it you know thorascopically you’re still you have to put that lung down and
to give yourself access to get the I mean I’ve done the cases I mean it’s
it’s a cool surgery but the problem is it the the average CMD kid cannot afford
to lose even a little bit of pulmonary function or to have that permanent
scarring that occurs because of the traversing the the chest wall now if you
were doing a lumbar tethering theoretically that might help but the
the other issue is that tethering is not good at maintaining sagittal plane as we
were just talking about so that’s another strike against it when it comes
to CMD okay I could also say from our centers
experience with one individual who’s now doing involved in a trial that
neuromuscular cases such as CMD do not qualify and he’s done over 200 tethering
‘he’s my partner and he’s had shall we say suboptimal outcomes with
neuromuscular population such that he stopped doing it so i think that’s two
major centers with the same experience so anyhow i would just say it’s a real
pleasure to be able to speak to you and hopefully you’ll find some of this
helpful i think it’s more a discussion or a
philosophic discussion than it is one that’s evidence-based or anything like
that how many of you can you hear me now okay so how many of you who are patients
or families have had members that have had contracture surgery okay so small
number how about surgery for hip dysplasia okay okay so anyway i’ll try
to present more of a philosophical than anything else so I think one thing
I’ve learned over the last day or two is the immense activities that have gone on
in the basic science world and some very high-level science that has increased
our understanding of the disease process the genetic basis for it and essentially
turn from lumpers to splitters because now we’ve got all these things over here
I can’t even remember them or I have no idea what they stand for so we have an
uncommon disease process that’s quite heterogeneous and for an orthopedic
surgeon I’m into phenotype genotype doesn’t help me so what are the
take-home messages from the lecture well about caring for your families and your
children one is that even the contractual work and the musculoskeletal
care can best be done in a multidisciplinary setting you know that
and care should be individualized particularly for contractures and hip
problems and so on second issue would be that everything should be linked to some
specific goal right if I just operate on everything that was abnormal on a
physical examination I’d have to clone myself three times and most of the work
I did would not be of any use to the patient and their family so we have to
define goals then a realistic plan for rehabilitation because I would argue
that often the surgical part of this whole thing is a small step in a
longitudinal process that goes four years and to a certain extent it may be
jumping jump starting that process or it may be catching up to restart the
process and most of the time even with a single event surgery you can’t correct
these deformities so that’s why I think nothing happens in isolation and it’s a
process when we’re addressing contractures and then once we all work
together I would work with my neurologic colleagues our physical therapists
everyone involved patients and so on and if we choose that we have a functional
goal and we’re going to try and get to that place then of course it’s up to me
to discuss with families what technical solutions might be pursued to achieve
that goal so I think that’s kind of the idea that I had so it what the orthopedists
are interested in phenotype more than genotype and so to me it’s a concept of
shared decision-making I should be able to explain to every family what I think
it takes what’s going to be required what the risks are and we have to set a
goal together and we have to work towards that goal and so I usually you
know I think for all of you when you’re approaching any healthcare provider
particularly when it’s something like orthopedics you have to think in your mind
like I’m thinking as I look at it you like like how can I help like what are
you thinking about what you see or what you’re experiencing and what can I do
for you what limitations do you have in your daily living what do you wish to
achieve I mean things aren’t always as straightforward is well this is my
dominant arm and I’m unable to flex my elbow to feed myself so therefore my
specific aim is to increase the range of motion that joints so I can feed myself
right so that’s a pretty straightforward example of that
so here’s just this the whole concept of impairment versus disability right so I
don’t think there’s any of the patients that were that all of you are here
together today that don’t have some degree of an impairment you have loss of
motion of the joint where you have some weakness or it goes on and one could
make a list for every single patient so here’s a fellow I don’t know the history
because but you can see here that he’s lost the entire part of his upper ulna
he has some screws he probably had some surgery it probably got infected
his radius is dislocated so essentially this fella has no elbow joint no elbow
joint so if I showed this to a group of orthopedic surgeons they wouldn’t want
to take the history they’d be you know I mean oh well we could do this we can do
that or we can do this or whatever but in fact this wasn’t even a patient is
the patient’s father and he was just showing us what he could do with his arm
that he was a manual laborer and he had no symptoms so he had a pretty profound
impairment but he had no disability at all so we got on with taking care of his
child so this is a nice conceptual model for you know for being able to just
another way to think about things right I haven’t heard any of this discussed so
I figured let’s talk about it so we talked a lot about these impairments
body function and structure we can again I have a loss of motion of my knee or my
elbow or I have my foot is turned inward or whatever you want to say
we’re on x-ray my hip is displacing out the key question is how does that impact
our activities and our participation right what are our aims so if you’re
sitting in just for example if you’re sitting in a chair all the time or most
of the time and you’re completely comfortable with that and you can’t
straighten your knee but it in no way causes you any change to your life well
I’m not going to press you to operate on that I’m not quite sure what I’m doing
and in fact if you stay in that position 80 percent of the time what in the world
would make me think I can keep it straight even if I got it straight so
these are the type of discussions that we have to think about what are we going
to do to enhance activities and participation and then
these elements I’m going to bypass but certainly when you go around the world
the issues of environmental factors and personal factors are much more profound
particularly environmental factors and I know throughout this meeting I’ve heard
some of you you know are living in more remote communities where you know not
all of the services may be easily accessible and those are the kind of
things I’m talking about but so anyhow activities and participation so what
group we’re dealing with a group of different individuals so some patients
or walkers and the question would be can we maintain or improve function or
reduce pain for example I have you know operate on a very very small number of
patients so again I’m talking more in theory and I’m melding together
different disease processes this isn’t unique to CMD but for example let’s
say you’re walking and you develop a bit of a hip flexion contracture and in your
population of patients that is very …I’ll show you…it’s very similar to a type of
contracture that’s exceedingly common in polio and it destabilizes you a bit
anteriorly well that’s going to affect your ambulation and lead to some
deterioration so then we may then want to address that specific complaint to
get you back and try to keep you back on track because you’re having a
deterioration in your walking okay well how about if a patient does not walk so
then can we achieve upright mobility with or without an assistive device and
I don’t have an answer to be able to look at a child who has not yet gotten
up I have some ideas but in other words sitting all of us together or with a
family and a multidisciplinary team what are what are we shooting for and what is
it going to take to get there is it even possible to get up and walk and I’m
going to show an example about that and then if if we have all decided and come
to the conclusion that ambulation is not goal for us then perhaps we need to
focus on what are other things we can do to improve seating positioning comfort
ease of care and not just ambulate ambulation
perhaps being able to be positioned in a prone stander or a standing frame is our
goal well that’s a different story that may be a very important goal for a
particular patient and family in which case we can try to achieve that goal and
then of course we have a bunch of services that that always work in
combination like I said a surgical intervention is pretty worthless in the
absence of a functional system to make it work ok so here’s just another
example of the same sort of thought process now if you if we were together
and we drop down into a polio camp and we saw 200 patients together and we had
resources to operate on 40 of them who even operate on there has to be some
goal and so these may look fairly similar to you although they’re subtle
differences these patients they all have significant contractures and weakness
but two of these patients can be walkers with fairly straightforward orthopedic
procedures and two of them will never walk so the key is get to the kids who
you’re going to get to that level and don’t put scars on the kids who you’re
not going to get anything out of so this young man and this young man don’t have
upper extremity strength or trunk control to be able to utilize an
assistive device and to be able to walk in a meaningful way whereas these
fellows here this child I know because we operated on that child and that child
did walk with simple orthopedic surgery so so what are the contractures from
well there’s progressive fibrosis within the muscle but I would argue that
there’s a very significant positional influences right we sit a lot of the day
and so we try therapy we try all these different strategies and we try to you
know be able to maintain the range of motion of the joints but it’s a very
difficult you know worthy opponent contractures tend to occur they tend to
recur they’re very resistant and it can become a challenge the other issue is or
the idea that the contracts are solely involves a muscle it’s just a tight
muscle it’s usually not just a tight muscle and
invariably particularly around the knee this contracture involves the structures
of the knee joint the knee capsule so that simply lengthening a muscle is not
going to achieve the goal that you’d like to achieve at least right away so
I’m sure you’re all aware that most of the contractors are flexion contractures
hips knees ankles fingers so on and so now I thought moving on to so now we
have some sort of a at least a philosophic background and something for
you all to think about when you’re you know going in to see your health
providers and trying to sort through these issues but then once you get to
the point of trying to do something then of course you have to come up with
technical solutions and so to a certain extent we can try and prevent the
contractors and their strategies for that and you’ve already heard about
physical therapy and I can discuss bracing as well as the reactive so how
about you’ve heard about positioning in the physical therapy and how can you not
emphasize as you’ve heard before integrating this into a lifestyle
lifestyle change nobody wants to do exercises or stretching every day can be
painful and so well I don’t have an answer at least can specifically do that
at least conceptually it makes a lot of sense orthotics are another issue and
again there’s no strong science to support this but I guess the idea would
be that an orthosis maintains the position of a joint and then there are
several different types and the reason why I’ve underlined dynamic here is that
although I haven’t extensively reviewed the literature on relieving contractures
with the use of dynamic splint there is some evidence out there that dynamic
splints are effective and so while I’m not quite quoting the paper here I think
when I discuss with families particularly not necessarily again the
same disease process but when we’re doing contracture surgery particularly
for knee flexion contractures I try to think about what are we going to do
twelve months from that what are we going to do for 18 months from now
because we don’t want to be back in the same place with two scars so sometimes
adding dynamic splinting at night either before
or after might be a value so I just threw in a tiny bit about orthotic
devices and you know these these two type of orthoses that you see the
supermolia and the you CPLR foot orthotics so they don’t control the
ankle so they’re probably utilized less in this patient population whereas the
ankle foot orthosis controls the ankle and in patients in particular who have
weak quadricep muscles often a solid design or ground reaction brace are nice
because they block the advancement of the tibia over the foot when you’re
walking and assuming you don’t have a lot of malalignment of the bones
twisting of the bones they can actually help you to achieve better knee
extension when you’re walking so those may be an advantage to control the
positioning of the foot when you’re standing or in stance phase of gait they
may also have a secondary benefit to give you some better control at the knee
depending on the degree of weakness that you have assuming that you don’t have
big knee contractures or torsional malalignment
so how about the surgery we don’t do much surgery but the menu is essentially
we can do things to soft tissues and we can do things to bones and when you hear
it’s it’s an issue of terminology isn’t it so soft tissue lengthening or release
what is lengthening mean versus release or are they the same thing well I would
argue that sometimes if a soft tissue or is non-functional okay functional versus
non-functional so if you have a polio contracture and the muscle has been
replaced by scar tissue and there’s no active functional muscle nothing to
retain or maintain then that gets released it just gets cut it’s just scar
tissue it’s of no functional value whereas you take the example of a child
with cerebral palsy who’s walking with a flexed knee gait like this whose
hamstrings are tight you’re not just going to cut those muscles you’re going
to do a strategy whereby you make them longer when you lengthen muscles you do
make muscles weaker so the idea is to achieve the
functional improvement in range of motion without over lengthening or
weakening the muscle osteotomy you’re just realigning bone okay so the issues
of surgery I think that are particularly important in the patient population with
CMD would be early mobilization so virtually all of the soft tissue type
procedures that one might consider would be candidates for rapid mobilization and
in the limited cases where I’ve done anything particularly I found more
pleasing results at the hips and the knees but we’ve had the patients
admitted immediately after the surgery for a period of intensive rehabilitation
and I think there are a couple of reasons for that we don’t want to lose
function the other thing being the surgery is the first step because you
can’t simply do a surgery and restore the full range of joint motion that
could cause you to stretch a nerve or that could cause other problems it often
takes additional measures be serial casting beard be it therapy and so on to
be able to get that desired goal and the other risk of course is this this issue
of recurring contracture and I think that’s a battle that we all face and
that that’s the requirement for a longitudinal plan of care in which the
system will take care of the patient because if you just do the surgery and
you don’t have the system you’re going to end up right where you’ve started and
no one will be happy about that so here’s just an example this is a
different this is a boy with polio again and not to say that these two disease
processes are the same but it just so happens that in the patients I’ve seen
with CMD several who have been walkers others who have not they’re getting
these hip flexion contractures and everyone assumes that it’s in the main
hip flexor called the psoas which essentially is the most important muscle
for initiating the swing phase or propelling or advancing the limb forward
initiating that when in fact the psoas is not a player in this problem it’s not
the main problem so you can see here here’s a tight band of tissue and
actually this muscle goes behind the knee all the way down and can
also contribute to a knee flexion contracture so if you have this
contracture your child has this contracture the picture on the right is
a little bit awkward but this is the way that we assess this on physical
examination and it’s also a nice way to work on stretching it and that would be
with the hip brought up like this you try to extend the hip as much as you can
and you internally rotate it and then if there’s a contracture of course the limb
stays up in the air ideally this boy’s limb would drop down so you can do your
stretching in this regard but for me it’s the way I evaluate the patient
during the clinic visit so here’s just an example this is a very extreme
example again this is a case with polio but this fellow is 17 years old he’d
never walked before his knees were stuck about here and his hips like that so it
was unbelievable and his foot and ankle weren’t too bad it were flail but they
could at least be positioned or braced so I know this seems really this is not
the Spanish Inquisition or anything like that but you know in my residence
whenever we use traction on the extremities I think our trainees think
we’re dinosaurs or something but the reality is when you have very severe
contractures just like dr. Roy showed the halo femoral traction for severe
spinal deformities you can’t take that boy who’s lived like that for 16 years
do a simple surgery and pop his leg straight and get up and go it’s a
gradual process so anyhow so he’s put in traction and this this pin is keeping
his knee joint from dislocating and this one is pulling traction and so he’s in
there for about four to six weeks and it worked
he’s straight he’s standing and then he’s now champion for kids with
disabilities in this country and this is Nepal and this guy was born in the
region of Mount Everest so even extreme contractures can be
treated if we have sort of a longitudinal program ok the knee flexion
contracture is the most difficult and I think probably
one one thing to consider starting with a stretch casting then we’ve got the
soft tissue procedures which I’ll talk about in a little bit more detail but
anyway you can get and then the bony procedures which would be guided growth
and extension osteotomy and then external fixation so I’ll just try to go
through so this is just this is just a menu of options that could be applied in
the treatment of a flexion contracture of the knee I don’t mean to advocate for
for any one particular thing for your child and for example external fixation
I didn’t even discuss that’s that’s where you have thin wires or wires are
placed into the bone and you have an external frame which is gradually
stretched to achieve the correction so when you’re stretching at home one thing
to keep in mind is with this knee flexion contracture is that if you
simply pull and try to straighten it as time develops the tibia will go post
dearly on the femur and you can get a subluxation knee joint so if you’re
working on your stretching exercises it’s important to put your hand behind
the upper part of the tibia and pull it anteriorly while you push down on the
distal femur and that’s that’s kind of a way to help stretch without having the
tibia to go posteriorally on the femur this is just an example of wedging cast
this is from Uganda and showing a particular technique for how to wedge a
cast and then others like to use they apply a long cast and then cut out the
anterior part work on progressive stretching exercises and then replace
the cast so when it comes to soft tissue surgery I think I had mentioned that so
dealing with the hamstrings can be tight there the muscles behind the knee
depending on the degree of tightness depending on whether or not they’re
functional on these issues one can actually lengthen the muscle or one can
release them but invariably the posterior soft tissues around the knee
joint are tight and doing a posterior capsule release of the knee most of us
find that that’s it’s quite an extensive operation it’s very prone to rescarring and in general it’s also a pretty high
risk for nerve stretch injury or vascular problem so we don’t routinely
perform that type of an operation so I think I always start with serial casting
and then try to do my best to get things corrected with that there’s another
strategy that I mentioned for the sake of completeness here you can see two
plates and this is the growth plate at the end of the femur the two plates this
can be done as an out patient I recognize there are lots of anesthetic issues but
in a more general sense the these are placed and then these stimulate the bone
to grow abnormally so that you actually can correct the contracture by creating
a bony deformity it takes about a degree per month
this is infrequently reported and infrequently used particularly in the
neuromuscular population for completeness I mention it
you can also realign the bone through an osteotomy as shown here and that’s done
very commonly for other disease processes but much less commonly when
you want to rapidly mobilize the patient because typically you need at least two
to three weeks before you can stand on it so I’ve probably done a hundred of
those and children with cerebral palsy but I haven’t yet found the occasion to
do another in other processes so around the foot and ankle again the most common
thing would be equinas and also here we call it equinovarus where the foot
the Achilles is tight and the other structures are tighten it’s inward and
depending on the functional what are the potential indications for doing anything
well I suppose we’d have to all talk about it it could relate to patients
being destabilized in their ambulation it could relate to patients being in a
very cold climate who can’t wear appropriate shoe wear who need to get
their foot flat to wear the shoes they want to wear it might relate to other
reasons so that we can discuss and the last issue to talk about I hope I’m not
going too long but the last issue to talk about was is the hips and as dr.
Roy showed hip dysplasia is not all that common
in this particular example you can see here’s the femoral head it should be
down here so this hip is dislocated and in these cases this hip these hips are
partially out of place they’re subluxated but they’re not completely
out of place so the question is how to frame it in a very rare disease where
there’s phenotypic variation do we model our recommendations to you based on
spastic hip disease or flaccid hip diseases in the middle so when I’m
thinking about it we can just say that most of our experience comes from
dealing with spastic hip disease in which hip displacement is very common in
which hips that are completely dislocated are commonly causing pain and
arthritic changes in whom we often have to do Salvage surgery and teenage years
or my adult colleagues mention that this becomes a problem as many of those
patients go into their adult years the flip side of that is patients for
example who have flaccid hip disease like polio or spinal muscular atrophy
where conventional wisdom has been that you don’t do anything because
technically it’s harder to keep the hips in and the children don’t have the
appropriate muscle power and balance which is important for keeping the hips
located so be it right or wrong the traditional approach in flaccid hip
disease has been to leave the hips out this is being discussed and Convention
is being challenged in the SMA population so I think that again this is
individualized and I think I would approach the CMD population on a
case-by-case basis I don’t think anyone’s got a series of these that
they’ve they’ve taken care of and whereas I can easily say have done a
hundred hip reconstructions for other pathologies I’ve not yet done one and in
this sort of in this population then I guess we also could frame the issue as
to whether it’s one side or both and whether the patient is a walker or non
walker but anyhow so it looks like we’ve had it
here on I think you’ve been saved by the virtue of the computer running out of
power so I guess as the slides were to continue unless I can quickly reboot
something actually maybe maybe we can take I can ask you for your thoughts
your comments or your questions on the management of contractures we have a question from Gillian I have a
question about contractures of the knee my left knee is contracted inwards due
to the severe tightness in my hips I already have tension release surgery in
2007 on hips left knee, left ankle and right knee my
orthopedic doctor wants to release the gracilis muscle now what are
your thoughts on that I don’t need where’s it coming from?
Live Stream question looking around for who’s talking to me I guess it’s really
hard to answer that without talking to you getting the history knowing what was
done surgically before and examining you whereas traditionally I think that I
have not found a great deal of success with doing revision lengthening with
hamstrings again I have to justify that by saying it’s been in other patient
populations so I essentially try to serially cast everything before
operating but I guess I apologize for not being more specific with the answer
but I think I would examine first so I’m not a surgeon so I’m not but I think
what you would want to know is what would be the purpose for this
lengthening so the thing would be is that to help her sits comfortably in a
chair to help her with walking I think those are the questions you would need
to ask in terms of before she goes further for the surgery is something
that we would I would probably counsel her to talk with a surgeon and because
that would be very important to know if it’s just lengthen to lengthen because
you’ve got any contracture is that would be not helpful but if it’s to help with
doing the transfer out of the chair if it’s to help to stand getting in a
standard those would be the reasons why I think you would want to consider that are there any other questions while I
was trying to yes I have a question about bracing if I feel like my every
doctor that we go to in therapists would like to have my daughter brace from head
to toe sort of it all times she sleeps in hard plastic hand braces she’s in AFOs
20 hours a day she wears a DMO from head to toe and I
don’t really know why so I know I mean she’s not ambulatory non non
weight-bearing so specifically for the AFOs I I see a lot of kids here without
AFOs on and as soon as my daughter and wants to talk about why they’re not
having to wear braces so is it I know it’s a philosophical question but is it
why is it necessary so let me ask answer the question about the the bracing and
the DMO so my first thing has to do with the DMO there is no evidence to support
that it helps that I’ve seen a lot of parents come in with the DMO I don’t
know if you know if it’s like a body jacket kind of neoprene suit that kids
wear and the idea is that that that tactile input helps them stand up
straighter sit straighter but but my feeling with that is that it’s like
white noise so if you have something that you’re wearing after a while you
just ignore it so initially so the videos that we get
are amazing like look at this before and after like before they had the DMO they
were just slouching and now with the DMO they’re standing up straight but see
what happens two hours later they’re still doing the same so I’ve had kids
wear those DMO things in the middle of the summer and the kids are itchy and
it’s so I think those are proposed by physical therapist because that’s
another way revenue making and so if it helps your child great but I don’t think
there’s any if you have out to allocate resources it would be not that that
would be not where I would put it in terms of the bracing the resting hand
splints in the night slim I’m not a big fan of night splints but there are times
they may need to be on and the reason why I’m not a big fan of
nice ones and kids don’t sleep well and you don’t sleep well and everybody’s
cranky the next day so I think you have to kind of agree with that so so I think
there are therapists that will go out there and say no you need this and you
know and they’re all and the time in terms of wearing braces I’ve had so many
people come to my therapist that I should wear it for 20 hours a day and
I’m my response to that is most hours they most days of the week when you’re
upright standing for AFOs and if you’re in a chair and an AFO unless you’re
using unless you need the positioning for the feet to do transfers that would
be the only reason why I would probably save them I don’t know if you think you
I think I agree I think in the absence of science it’s very hard to be dogmatic
about these things but this is kind of my opinion my opinion is we all sit
together in a multidisciplinary setting we work with families and kids and we
respond to things and we try to be rational but yet we try to offer
whatever services are currently available assuming they’re reasonable
other people ask well do I have to I’m doing okay but is it okay to put the
brace on every other night or something so well as long as we’re obtaining the
range of motion or achieving our desired goal well maybe can wear it every third
night I don’t know I mean the end point is the desired goal whatever that be if
it’s a flat foot for standing or for positioning on a wheelchair well that’s
the desired goal of that so I think yeah some keep okay thank you I could
speak loud enough but okay but this is this is helpful I want to ask what your
thought on this trade-off I have an elbow contracture that is bad enough
where I need help with dressing where but the but so far my doctors have one
set of doctors had thought yes this is possible but another thought and closer
to my muscular dystrophy doctor had had warned about the consequences with
tissue damage I was wondering what what your approach was in dealing something
that is both and could potentially make me occupationally independent someone
like me more occupationally independent and at this but at the same time carries
this risk of you lose the strength that is that you lose the strength that is
there I think everything is about which direction are you losing again and
you’re trying to it’s a it’s a flexing contractor in my elbow so you’re trying
to achieve greater extension it yes well I mean you know you can always start
with again I mean I’m always happy to fail with serial casting and I mean you
can always start with serial casting and see or you can start with you know a
judicious soft tissue release followed by serial casting again to me
contracture surgery is never about the surgery it’s about a program of
management that may start with for me preoperative casting then an
intervention and then some post-operative management and then
maintenance therapy and again you know be it right or wrong and I don’t know if
there’s strong science but the the issue of you know using a dynamic splinting
when you sleep whether that’s able to be tolerated or whether you can achieve you
know in just how much do you have to achieve in degrees I don’t think you
have to be completely straight right so you have to be within some window that
allows you to function appropriately so for me it’s always starting off with
simple things and trying to achieve that balance to get the goal one of the
things that I did want to talk about the elbow contracture is that we do things
here we don’t do things out here so I think that that is an issue that we’ve
seen with a lot of the CMD kids that they or adults is that they do develop
the elbow contractures because you’re you’re combing your hair you’re brushing
your teeth you’re eating but you’re very rarely doing things out in space where
you’re extending your elbow so so one of the things that I always also recommend
is that if you can then work on activities that is making you go up
higher so putting things on a shelf a little higher things like that so you
can use the opposing muscles so it doesn’t address the effect in terms of
the stretching and the contracture but at least you can do it actively to
preserve just walk out there myself this one excuse me as I said before I
don’t speak good English we are a Syrian refugee family we moved
so many country looking for really a good hospital for my daughter she’s
a daughter with Col6 we at first we was in Phoenix Arizona in Phoenix
Arizona they scheduled for my daughter the surgery for the knees so I
don’t know exactly the name from the surgery I’m not sure about the procedure
they recommended but she has pretty significant knee flexion contractures
and she’s non ambulatory and some doctors have recommended surgery to
straighten her leg and I think you would like their input on that yeah yeah what
happened they scheduled for here this is surgery in Phoenix but really it is was
a big surgery I you all don’t really comfortable to do it for my daughter so
I started looking looking for my daughter so some doctor told me move to
Boston it is really a good Hospital for your daughter so I make a crazy trip
from Phoenix Arizona for offices like a really a crazy trip because we are
refugee here we don’t know about all this stuff we moved from Phoenix to
Boston in Boston I constantly had surgery in Phoenix it is well should be
in January so when I moved to Boston and they scheduled for has the same
surgery it should be the next month August 17 I come to here I see the
energy team here we talked about this the surgery they really don’t agree with
the surgery so really I got lost I don’t know
what I should we do I should be go with the surgery or I listen to what they
said me and other Dr… she she see my daughter and she
was agree with the surgery what I understand so please I need help please
please so I think these are really complicated
issues right so one thing you’ve got is a whole bunch of people around here a
lot of them have some of them have had this type of surgery and all can share
something with you I think treatment philosophies differ I think I would
start off with having to understand and knowing your daughter and the whole
situation from arm, spine, schooling the whole nine yards assistive devices
then setting a goal is the goal that she’ll be in a stander is the goal what
what are the functional goals of what would they go and really to help her she
now full-time will wheelchair the goal to help help to stand and walk with the
walker with the support not really the walker it with the walker with the
support this is their goal so it is really big big difference for us so
he’ll be here to move from the church to the walker it is it is a dream for us so
but it is this is a surgery if it’s just for her I will not go with the
surgery I will keep her like what she now I don’t want to go to the worries by
my choice so I think you know I mean it’s a really difficult question to
answer but I guess in our setting and I’m sure you’ve been to good people who
or everyone means well and everyone wants to get as much as we can get for
every patient but typically we just sit all of us together and again making
establishing a goal if everyone agrees that the goal will be upright mobility
and the rate limiting step is a knee contracture then then it becomes a
technical issue of you know amongst the choices available to us what would we
recommend now the knee surgery in and of itself assuming the risk of medical
complications was reasonable the complications due to the surgery itself
I think depending on what was advised would be fairly low
and so you know I think it’s just kind of deciding whether or not it’s
reasonable to pursue hi I’m Sara Newhouse I work with dr. Foley and dr.
Bonnemann and I got to meet your family last week I think one of the concerns
that was raised when we were discussing this was some unique properties and dr.
Cole is not in here right now it says unique properties with collagen six
myopathies and some adverse events that had happened in some of our patients
that ended up with severe fixed contractures once the joint capsule was
compromised and ended up with worst mobility after the surgery and they were
offering a very aggressive bilateral osteotomy hip and knee and torsion and
fixation and some pretty invasive measures that we were concerned might
leave her less mobile and then with progressive weakness an inability to
stand that even if her knees would be fixed would it end up worse than where
we started was a concern well I mean if that sounds like a separate issue it
sounds like it’s a little bit more complicated than but then in that regard
doing an osteotomy you’re not violating the knee you’re not touching those peri
articular structures you’re not cutting muscles to that extent the issues with
an osteotomy as I had shown was would be that it would be a couple of weeks of
not being able to but of course you’re not bearing weight now an osteotomy
typically from a technical perspective doing an osteotomy depends on how bad
the flexion contracture is it’s not technically possible to do severe
flexion contractures so usually we do serial casting and get it to a
measurable level ie 2025 degrees and that can be that can be addressed with
reasonable surgical risk I think you’re talking about the inherent properties of
the collagen and the risk of disastrous results from doing a big muscle release
surgery yeah yeah and I think again so it may I mean again it’s hard to comment
on an individual case without knowing anything but if everyone came to if that
was the issue then it may well be were the risk of doing the osteotomy because
you’re shortening the bone to protect the neurovascular structures but again
it depends I’d have to examine to see like I do a ton of those osteotomies I
do a lot and but for me I have to get the residual deformity to 20 degrees or
so and I also shortened the bone to risk to reduce the risk of stretching the
nerve or having a vascular problem so you can’t do too much of an extreme
correction even through an osteotomy but we can’twe mean we can talk about it
afterwards so it looks like we need I don’t know whether it’s Maalox or a cup
of coffee or should I go through the last few slides

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