Email from Parents in the UK

I've noticed that the blog has had several hits from the UK and now I've had email as well.  Thanks again Natasha for allowing me to post, and best wishes to all.

Amanda

Hi Amanda

My name is Natasha and I live in Edinburgh with my partner and our 2 amazing sons. After seeing your lovely wee girl on you tube and then finding your site I wanted to write and share our story .

When my son Reuben who is now 5 was about 6 months old he started  flapping his hands and making a grimace with his face. we all thought this was adorable and called it his ' crazy baby face' . As time went on and he continued to do this I became concerned he had autism. By the time Reuben was about 3 it seemed virtually impossible that he was autistic as he is sociable,great llanguage skills, intuitative, flexible in his routine, and very tuned in to the world around him. I am also a teacher who workes with a mixture of special needs and non special needs children and Reuebn was clearly developing in a totally ' normal' way. Yet his flapping and face grimace, while holding his breath, continued . Reuben was diagnosed with asthma and sleep apnea at this time and we had his tonsils out. This made a huge difference to his energy levels yet the flapping continued. We began to realise it was when he was excited and he could be interrupted by diverting his attention to something else. I started to get worried and one day a friend mentioned tourrettes and although it didn't fit exactly I mentioned it to his Dr. He also had another sleep study which showed up some central apnea [ not sure any link but might be useful for other families to know ] These can be totally normal in kids although could strenghten the idea of tourretes as they can go together. However I asked the dr if we could give it a bit more time before visiting a neurologist for Reuben to start school to see if the flapping stopped. I I have since looked up everthing I can on Tourretes but it just doesn't seem to fit. Reuben is now 5 and has recently started school , he says he doesn't flap at school cos he's not excited enough!! But i'll find out if thats the case at parents night in a couple of weeks.When he flaps I just say his name and he knows he is to try and squeeze his hands and be aware of his face and make a smile. He has been flapping madly in the last couple of weeks at home probably cos he's so tired from school. Today I spent another huge portion of my morning worrying about it, will he grow out of it? will he get bullied? will he suddenly develop some terrible sympton of something? I  decided to look it up on you tube to see if anyone else did the same and after watching loads of sweet kids flapping , who had autism , I came across your daughters video and couldn't believe it! It was identical to my darling Reuben. The face , the breathing , the hands. Then after reading some not very informative research papers I found your web site.

I know that I need a neurologist to diagnose but I am pretty convinced that Reuebn has motor stereotypy. And although I still feel a bit worried he won't grow out of it I feel so relieved to finally know what's going on. My little flapmaster is not the only one, he is a bright , funny , kind, loving , intelligent , curious , healthy wee boy.

Thank you for setting up this site it has really helped myself and my partner. I will now set up an appointment with a neurologist [this being the uk will take forever to get one] and any advice on helping Reuben to lessen his motor stereotypy would be greatly recieved.

Lots of love to you and yours and thanks again for taking the time to put those videos out there. We are happy for you to put this e amil on your blog.

Natasha and Michael

Thanks so much for your email Natasha!  I have been getting such good responses to the posting that it's made it worth it.  I was so nervous at first about putting it out there, but emails like yours have been very encouraging.  It is really amazing to see another child do almost the exact same thing, and I've only seen a few other kids do it (my nephew being one.) 

I have tried all sorts of things to help my daughter be more aware of the stereotypies but nothing has worked thus far.  They do go through period where they will diminish, but then usually come back again.  The research that has been done so far coupled with clinical outcomes had demonstrated that for many children these movements start really falling off in the teen years.  Every child is different of course so I assume that some could slow up earlier, some later than that.  I think the stereotypies have been more of a practice in patience for me.  I find that I get frustrated asking her to "settle" many, many times a day.  Then, I kick myself in the butt and remember that she doesn't do it on purpose and my frustration can actually do more harm than good, and that levels my own attitude back out.  She has made a few comments more recently on them and asking me how she can stop them.  That is what breaks my heart, because I know that as of yet there is really nothing to do to stop them.  Some therapies have proven to be useful for some children but not all.  It's just a waiting game really to see what research tells us and what nature does to slow them on it's own.  For now, she is a happy, social, lovable, and very intelligent little girl that has this quirk that we now have a better understanding of, which is what makes me happy! 


Amanda

Email from Parents

This family contacted me from Vancouver BC and provided a link that might be of interest.  Enjoy!

Amanda 

Dear Amanda,

Thank you so much for your blog and You Tube link. My 5 year old daughter does almost exactly what your girl does in the video. We actually found her movements quite endearing and she has done them since she was 3 months old. She does it maybe a dozen times a day when she is excited, or very pleased with herself, or very intrigued by something.

It was only because she is starting Kindergarten that I was concerned other children might make unkind remarks to her and so I started Googling "involuntary hand movements". To my utter surprise I found the term "motor stereotypies"  and that some children are medically treated for this.

My daughter did wonderfully in preschool and is very bright and social too and in dance, swimming etc. no problems developmentally.
I will discuss it with my GP and Naturopathic doctor just to be reassured.

Her teacher also shared a website with me for a centre whose treatment philosophy is to not use drugs and there are practitioners throughout the states.   The Handle Institute:  www.handle.org

Thank you again, It is wonderful to not be alone. C

Email from Parents

I receive many emails from parents interested in learning more, and here is one such exchange. I encourage other parents to post comments!



Hi Amanda,
I was searching around on the internet and saw both your youtube post and this blog.  I am so happy to reach out to another parent who is trying to learn more about this.  I need all the help and support I can get...I have been trying to figure out what may be happening to my little boy, K., for two and a half years now.

We just heard the term Motor Stereotypy Disorder last week after we visited a Developmental Pediatrician. She gave me a sheet on it and said I should visit a Pediatric Neurologist to further determine if this is what my son has been dealing with. So I went online to research it after thinking this really does sound like my child, I saw a few youtube clips of children with this disorder and began to cry.  While we have not be diagnosed with this, seeing those children reminded me so much of my K. Like I said, we have been searching for answer for years, seeing many drs, therapists and talking to others...and never have I heard of this disorder.  We have gotten that he has Sensory Processing Disorder and some Attention issues.  So we have been doing OT for Sensory for about two years now.  But I always knew there was something more, something we were missing, something that would explain this better.  We have never met or most drs have never seen another child that does what my child does in his movements...so I knew we were different and I had to try to find an answer.

Our symptoms came out of the blue one day and came aggressively.  He was 2.5years old at the time.  We put him in the hospital for seizures and after many tests and medication, seizures were ruled out...but they couldn't tell us what was wrong with him.  We left the drs with no answer at all.  We went back a year later and they told us tics...but I still didn't feel like that was the answer.  My gut told me there was more to this.  He was a very healthy baby with no problems at all, born on time and perfectly...something happened to him and I still don't know what.

He does have complex movements where he jumps, sometimes flaps his legs, moves/flaps his arms around, makes facial expressions and can usually be stopped when distracted or spoken to.  He does it more when he is excited, doesn't have anything to focus on or it is loud.  He is not autistic...as I don't believe he is and all the drs and therapists have said the same.  I keep getting that these movements are his form of stemming and his comfort mechanism.  Even if that is true, I don't and have never believed that in the beginning they were any type of comfort mechanism...his body was doing something all on its own. 

So I have been fighting to find an answer for him and this one seems so close to it.  Any information you can share would be wonderful...actually all the info you have put out has been a blessing for me, finally something that looks, sounds and is so close to what my child is like.  We have been alone in this for a long, long time it seems like.  I just wish I had found this before and wonder how I never heard of it.  But either way, I am glad I have now.  Thank you for putting your life and information out there for others.  Like I said, I cried after seeing/reading your information because it seems like we are not alone anymore.

Sincerely,
A.
________

Hi Amanda,
So I just sent you this really long email just talking about us and my son but I did have a question for your blog. 

Do children with Motor Stereotypy Disorder grow out of it?  I noticed in some articles that it stated that children had these certain behaviors more than five years but I am curious what "more" means.  Will it go away one day?

Thanks,
A.

________

Hi A.-

I was just reading through the first email!  Do you mind if I post it on the blog for other parents to comment as well?  I will post my reply there so all can see too if you don't mind.  I will id you and your son just by your first initial to protect your privacy as well. 

My ped neuro said that most children see this condition extinguish sometime in their teens.  He told the story about a girl he saw when she was very small for stereotypies who had a really large set of movements, but now as a 14 year old she just drums her forefingers together. My own daughters movements have gotten "smaller" if you will over time, but as she is only 6 I expect that we will see them for some time still yet. 

I'm just like you.  The big concern was that I am was a parent who couldn't get an answer and something horrible might be happening to my child under my nose!  I was assured by the Dr. that unless some other condition crops up, stereotypies on their own are not harmful and do not require treatment except in such extreme cases that a child's stereotypies cause extreme harm to themselves.

I'll reply to your first email as well, but please let me know if you'll be okay with posting it.  I also have other info from a great research in the area with good news about a gift his university received to study stereotypies in non-autistic children.  Great news indeed!

Amanda

________ 

I don't mind at all you posting my info I sent, if our story can any way help like yours did for us, then yes!!! I tried to sign up to be one of your followers but I must not be doing something right.  I will work on that.

But I am so excited/relieved about these new findings and really believe this is our answer.  We are currently trying to get into a different Pediatric Neurologist who specializes in movement disorders to continue with the diagnosis. 

For years peoples kept asking me if K. was autistic because he had these movements and he is not.  We kept falling into that category and I knew we didn't belong there.  We have been just going on that he has Sensory Processing Disorder.  So we do get Occupation Therapy and didn't know if they also treats motor stereotypy but it seems like it is more of a behavioral therapy if any...is that right?

Well, K. has been having the movements since he was 2.5 and he is almost 6 now.  While they haven't gone away, he has learned to disuse them more to look like he is playing and has some good days where he hardly does them and some really bad days where that is all he does.  I watched him on the playground at his small private school yesterday and that was all he was doing.  It breaks my heart because I wish he would use that time playing with others or just playing.  But he does stop when asked to or when he is distracted...then goes back to it later.

Thanks for writing back, I am so excited to have someone to talk to about this.  And like I said, any good, new info you might get...I would love to learn it as well.  I want to learn as much as I can, now that we might have our answer!!

A.

________ 

Hi A.-

I want to thank you first for allowing me to post your email on the blog.  This is the best way I can think of to get the information ball rolling!  Your email is so similar to the many I have received from other parents who are looking for answers.  They just never feel like they get to the bottom of the matter!  As your son hasn't been seen by the pediatric neurologist yet for a diagnosis, I would caution you to be prepared for whatever they might say.  I would hate for you to get comfortable with the motor stereotypy idea and then have something else to face.  I'm not trying to discourage you, but please do make sure to follow up with the neuro. 

That being said, your son seems to have a pattern much like my daughters.  She is also 6 now and one of the main places we see her stereotypies is in physical play.  Her kindergarten teacher last year and her new 1st grade teacher have both reported seeing no stereotypies in the actual classroom setting.  They have seen them on the playground and in the gymnasium.  I don't understand what it is about being up and around that lets them happen more often, but that seems to be the case.  Of course at home she does them all the time.  Best reasoning I can come up for that is she is in her private home environment, whereas in school she is maybe unconsciously monitoring her stereotypy better.  It can be frustrating at home to see them every 30 seconds, but honestly they can happen that frequently, if not more.  Some days I feel like I say 'settle'  a thousand times!  We typically say her name or 'settle' and that interrupts the stereotypy.  

The good news about my daughter is that socially, she has been completely unaffected.  She is a funny little girl who has several little friends and is just as chatty as can be!  She has however, started getting frustrated recently with trying to curb the stereotypies.  She's been saying, "Why can't I just stop," and "It's so hard to stop it."  That breaks my heart of course, because I know she can't stop it and this has really been the first indication that she's frustrated with it too.  About a year ago she asked my husband, "What's wrong with my body," which even thinking about now makes me want to cry.  I understand that stereotypies are not as devastating as plenty of other pediatric illnesses, but for a parent who hears that, I think we'd do anything to try and make it better.

Good luck to you and your son, and please keep checking back.  I'm going to be gathering as much info as I can!

Thanks again for sharing-

Amanda  

Motor Stereotypy Disease Research Initiative

I might have said before that I work in research at Washington University School of Medicine in St. Louis, MO. I bring that up because as someone who works in research, one of the first places I went looking for info after meeting with the pediatric neurologist was to the internet to search for research articles on motor stereotypies.  I wanted to see what research was being done and what they might have already found out.  One name that cropped up time and time again for non autistic motor stereotypies was Harvey Singer.

I eventually contact Dr. Singer and my daughter, husband, and I participated in a genetic study he is doing at Johns Hopkins.  Recently, I received an update from Dr. Singer about a generous gift Johns Hopkins Hospital received from the Nesbitt-McMaster Foundation.  This gift will be used in part to establish the Motor Stereotypy Research Initiative.  This is great news for families living with stereotypies!  There hasn't been much research done in the area and there are plenty of practitioners who have never heard of motor stereotypies.  I encourage you to call the number listed below if you are interested in finding out more. 

The Introduction section has a great description of stereotypies.  I actually printed that page and gave it to my daughter's teacher earlier this week for a better description.  I also think the last sentence perfectly addresses the anxiety that parents of children with stereotypies feel..."Motor stereotypies are often of concern for parents, in part, due to worries about psychosocial difficulties or fear of associated diagnoses such as autism or mental retardation."

Here is the text from that letter (posted with permission).  I have a pdf copy available as well, email me at motorstereotypy@gmail.com with Singer PDF in the subject line.

Amanda

June 30, 2009

Dear Parent:
I am writing to inform you of exciting news at the Johns Hopkins Hospital regarding individuals with the movement disorder known as complex motor stereotypies.
An outstanding gift from the Nesbitt‐McMaster Foundation has been received that will enable us to establish a major Motor Stereotypy Research Initiative at the Johns Hopkins Hospital. More specifically, this Initiative will permit us to:

a) Conduct research to identify the underlying brain mechanism as well as the cause of these involuntary movements;

b) Explore new treatments for these movements; and

c) Expand the amount and accuracy of information available to patients, families and caregivers.

This initiative will be led by Dr. Harvey Singer and a team of neurologists and psychologists in conjunction with the Kennedy Krieger Institute (KKI), National Institute of Health (NIH) and colleagues at Yale University. We are beginning this initiative by contacting prior patients seen in the Pediatric Neurology Clinic with the diagnosis of non‐autistic motor stereotypies. We would like to invite you to learn more about the results of our prior studies, our desire to provide free comprehensive neuropsychiatric evaluations, and the eligibility criteria for proposed studies ‐ the latter discussed in the attached information.

For more information, please contact our Project Administrator (Ms Tina Kline) at 410‐955‐7212.

I look forward to seeing you in the near future.

Sincerely,

Harvey S. Singer MD
Haller Professor of Pediatric Neurology
Director, Child Neurology
Johns Hopkins Hospital

MOTOR STEREOTYPY DISEASE RESEARCH INITIATIVE

INTRODUCTION
Motor Stereotypy disorder is a relatively common hyperkinetic movement abnormality seen in children and adolescents. The precise prevalence of this disorder is unknown. Movements are defined as involuntary, repetitive, rhythmic, having a predictable pattern and location, a prolonged duration, and being suppressible [Wolf and Singer 2008]. Common examples include arm flapping, hand waving, head nodding, and body rocking. In most individuals, movements are persistent. The cause of the disorder and its underlying pathophysiological mechanism remain unknown. Motor stereotypies are often of concern for parents, in part, due to worries about psychosocial difficulties or fear of associated diagnoses such as autism or mental retardation.

UNDERSTANDING THE CAUSE(S)
Motor Stereotypy Disorder is described as primary (i.e. normally developing children) or secondary (i.e. presenting with an additional diagnosis such as autistic spectrum disorder, mental retardation, Rett syndrome). The underlying pathophysiological mechanism of motor stereotypies in both primary and secondary cases is currently unknown. Suggested mechanisms have ranged from psychological concerns to biological abnormalities. The investigators at Johns Hopkins strongly favor a neurological basis for stereotypies.
One of the critical goals of the Motor Stereotypy Research Initiative is to define the underlying mechanism(s) of the disorder so that more effective and safer treatments can be made available to patients. This will be pursued along three key lines of investigation: imaging and EEG studies to identify, define and quantify brain activity associated with motor stereotypies, and genetics studies that will pursue questions of predisposition for the disorder.

a) Structural Imaging (MRI) Studies
To date, there have been no studies using advanced neuroimaging techniques to characterize brain development in children with motor stereotypies. We will use anatomic MRI (aMRI) with large Diffeomorphic Metric Mapping (LDDMM) and neuropsychological assessments to characterize the development (brain, cognition, behaviors) of motor stereotypies in normal children and those with autism. Data from these two groups will be compared with pre‐existing neuroimaging and neuropsychological data from two additional groups without stereotypies, including normal controls and those with autism. LDDMM provides a highly reliable method for quantifying localized differences in the shape of the basal ganglia, and offers a unique opportunity to precisely localize structural brain
differences. This technique has been used successfully by investigators to identify structural differences in the supplementary motor region to striatal pathway in children with attention deficit hyperactivity disorder [Qui et al 2008].

b) Brain Activity (EEG) Studies
Our overall objective is to study the cortical (brain) activity preceding and during involuntary stereotypies and to compare it with activity related to normal voluntary movements. Electroencephalography (EEG) analysis has great potential to provide new information about the pathophysiological mechanism of motor stereotypies. More specifically, it can answer whether cerebral activity related to these repetitive, rhythmic, prolonged involuntary movements is similar to the activity responsible for the control of voluntary movements. This study merges the expertise in identification and characterization of motor stereotypies at Johns Hopkins with the electrophysiological resources at the National Institute of Health (NIH).

c) Genetics Studies
As noted, the underlying cause of motor stereotypies is unknown. The genetics study merges the clinical expertise in the identification and characterization of motor stereotypies at Johns Hopkins with the necessary resources to perform appropriate genetic analyses in the laboratory of Dr. Matthew State at the Yale University. This joint effort provides an exciting opportunity to use the powerful inheritance pattern of complex motor stereotypies in some families to seek the underlying genetic mechanism in this disorder. The proven expertise of Dr. State in such genetic analyzes makes this proposal potentially groundbreaking.

TREATMENT
Evidenced‐based therapy for the suppression of motor stereotypies is sorely lacking. Specifically, behavioral interventions and various pharmacotherapies have been used with variable success. In a small number of non autistic children, the combination of two behavior modifying techniques—habit reversal and differential reinforcement of other behaviors ‐ was beneficial in reducing motor stereotypies [Miller et al 2006]. In the autistic or retarded population, many with self injurious behaviors, the response of stereotypic movements to medication is generally inconsistent. It is imperative that better treatment options be developed for patients. The Motor Stereotypy Disorder Research Initiatives holds the discovery of better and safer drug therapies as one of its cornerstone goals. What is needed is a drug (or drugs) that is (are) capable of suppressing or preventing motor stereotypies.