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 email@example.com with Singer PDF in the subject line.
June 30, 2009
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.
Harvey S. Singer MD
Haller Professor of Pediatric Neurology
Director, Child Neurology
Johns Hopkins Hospital
MOTOR STEREOTYPY DISEASE RESEARCH INITIATIVE
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.
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.
Thanks for posting this information. I've contacted Tina and will find out more information next week. They mentioned sending a saliva test out to us and doing a phone interview. Wonder what they will be asking.ReplyDelete
Amanda- My son (4) was diagnosed with a motor stereotypie over a year ago (his is jumping up and down). Since he is an otherwise healthy and normally developing child, we were told to ignore it and around age 8 (when social pressures settle), he would likely stop. We only make him stop if it puts him in danger (i.e. bathroom, poolside). His movements have decreased quite a lot in the last year but they still happen. His new 4 year Preschool teacher will not allow him to jump in class- and I assume this is in part to prepare him for kindergarten. I have yet to talk to her about his diagnosis but wanted to see if you had suggestions on what to share with her. Also, anything else on habit reveral or differential reinforcment techniques? If she wants him to stop, I'd rather her use the right tools. Thanks so much for your blog!ReplyDelete
My son (11 yrs) has never been formally diagnosed with motor stereotypies; however, I've been observing his behavior of rapid finger/hand movements and arm shaking since he was about three years old. He is a normally developing child in every way and performs at average to high levels in all school subjects. I've yet to discuss this behavior with his teachers or his pediatrician because I've worried that my son will feel self-conscious and think that there is something "wrong" with the behavior.ReplyDelete
Over the past few years now, his movements have become more frequent and elaborate, eliciting stares and comments from people in public, as well as difficulty in school in establishing friendships. I'm interested in anything you've found on behavior modifying techniques that may help him.
I sincerely appreciate this forum for gaining information and sharing ideas.
My daughter is 6 years old and everything seemed ok since last year. At the fifth month of the preschool she started to move her fingers and open her mouth while she is excited. At the same time she started to ask the same question again and again. And she doesn't accept any other answer than the answer she expect.ReplyDelete
Then i realized that she had the mouth opening behaviour at her early age videos but no hand movements.
We visited some psychologists and they said its some kind of tic disorder. But I was not convinced. Later we went to a psychiatrist and we had no result. Later a neurologist who knew about motor steretypies convinced me about the disorder. By the way there was nothing abnormal at her MR result.
I have some theories about the cause of this disorder.
-Last year, she had many otitis media and used lots of antibiotics(augmentin) which contians aspartam as sweetener.
-I had varicoseloctomy before my daughter.(poor sperm quality??)
-She had some head traumas during early childhood.
-During pregnancy out doctor used ultrasonography every month to observe my daughter. Maybe ultrasonoghraphy is not safe as it is thought.
-Electromagnetic waves are too much around us such as wireless networks or cellular phone networks.
After all, I wish I can help Mr Singer for the research. I wish there were a remedy for this disorder.
Thank you for posting this site. My 11 year old son just completed the research study at Johns Hopkins & NIH. I hope this research will help him and other children.ReplyDelete
Hi Susan, we just did the NIH study as well! It really was a great experience...and I'm expecting some great papers to come from it!ReplyDelete
I am incredibly encouraged by this site! Thank you for opening up this topic for parents of kids with CMS (Complex Motor Stereotypies). My son has been exhibiting the symptoms of CMS from a very young age. At the age of 6 we were encouraged to have him evaluated by a pediatric neurologist and from there he was seen by a pediatric neuro-psychologist. He was diagnosed with dyspraxia and an auditory processing disorder and we were told to continue his speech therapy and take him for occupational therapy. We did not get a diagnosis of CMS until he was in the second grade (age 8) and we took him to another pediatric neurologist. She was able to diagnose him after watching a short home video of him in action. I would be very interested in any research that is being done and possible treatment options that do not involve medication. I plan to contact Johns Hopkins for further more information. I have yet to meet another parent/teacher/doctor that is familiar with Motor Stereotypies in children.ReplyDelete
I'm a 27 year old woman with complex motor stereotypy disorder. From personal experience--and from what I've gathered from other forums on the topic--these behaviors do not end with adolescence; rather, they lessen in intensity, and we learn to keep them private as adults. I'm encouraged by websites such as this one, as I'm sure my own parents would have felt much relief at knowing I was not "crazy" as a child, and I myself benefit as an adult knowing I'm not alone. However, I'm bothered by the assumption on behalf of the Hopkins folks that motor stereotypes in developing children need be supressed with drug therapy. Unless engaging in self-harming behaviors, motor stereotypes are no more dangerous than any other form of fantasy play (and that is, in essence, what these movements are). Its as if one's imagination is too much to bear in one's head, and the physical movements are a release. I encourage parents to think twice before intervening with drugsReplyDelete
I, too, have complex motor stereotopy disorder, as do my young daughters. For those of you who don't understand it, let me explain. This is a function of play and/or fantasy. As we get older, those of us with this "disorder" learn to suppress the behavior or channel the movements into more socially appropriate ones.....(dance, sports, swinging, for some reason driving does it for me, too.) My thoughts are this is not a disorder, but a gift. I feel children who do this are usually highly creative and intelligent. They engage in a fantasy world that is sharp and intensely vivid. My daughters say their thoughts are dancing in their head as vividly as watching a movie. It is like that for me, too. For whatever reason, moving our body in certain ways makes the visualization more clear and the feeling more euphoric. Please celebrate your child's intense imagination. If cultivated correctly, our children could go very far in life, inventing things and creating who knows what?!! Please don't shame them. Please let them know there are others out there like them. Those of us who have this gift have such intense excitement for life that we simply must shake it out of our bodies. My daughter participated in Dr. Singer's study and found it very interesting. My daughter had to watch a video of another child doing the movements and then she had to watch herself doing it, too. It certainly made her more aware and it brought up interesting dialogue between us. I normalized her movements and let her know it was great to do at home but at school, you should focus on work and not do the movements. Since it's a function of play, she understood.ReplyDelete
Thank you for sharing your perspective. 15 years ago my daughter was diagnosed at age 5. The pediatric neurologist that diagnosed her did not use the term stereotypy but explained it as a creative overflow that he had seen in children with a gift of creativity. He also encouraged me to not make a big deal of it with her but embrace it as a part of who she is. He also encouraged us to take advantage of it as a barometer of stress in her life. I noticed it more during times of intense play, creating, or when she was stressed about normal things in school. I always gave her time to "unwind" when she came home from school. I still occasionally talk to her about it now that she is away at college. She said she notices herself doing it during stressful times. Thank you for your wisdom and insight.Delete
Thank you to the adults above who have complex motor stereotopies for commenting above. My 10.5 month old definitely has this and I found your comments so reassuring and very interesting. I certainly wouldn't dream of seeking medication for something harmless and seemingly enjoyable for her. I have requested to join the Facebook group so that I can learn more and also connect with other people in the know about this. (Can someone accept my request please?)ReplyDelete
I have had stereotypy since I was a kid. I exhibit different symptoms - grind my teeth whenever I am excited, do a finger to the mouth when I was younger. Thumbsucking changed to biting my finger and that changed to nail biting later. I also have this weird thing about symmetry. If someone touches my right shoulder I have to touch my left and so on. It never went away. I learnt to control it. However, I am 35, a successful entrepreneur, married with kids etc etc and an all round funny guy :).ReplyDelete
As a father with two young children under 4 years of age...I am incredibly grateful for your comments and experiences. There is no doubt in my mind that my little man has non-autistic complex motor stereotypy. He was under the age of two when we noticed he flaps his arms, flexes his legs and stares intensely with an open mouth when 'flapping'. At first people though he was about to let out an scream, but it is always silent. When I ask him if he is excited he stops immediately and says YES!ReplyDelete
He is very smart, knew his ABC's before three (in any order), can count to 60 at three years of age, can recite at least a hundred animal names, he loves his little sister, gives affection and hugs for everyone, sings songs and even has a funny sense of humor. He is a very happy little man and socializes well with other kids too.
He has a cousin who flaps as well (from what I heard).
The biggest worry for me is that the medical community seem to want to jump straight to autism testing. We have had him looked at by two pediatricians who do not think he is autistic in any way. However, NONE of the doctors know what complex stereotypy is. That is why I am so reluctant to have them 'experiment' on my little guy.
He is only flaps when really excited or when he is accomplishing playtime tasks that he is engrossed in.
I hope that once older, sports, exercise and music will help channel his excessive 'excitement' and creative energy.
He has been in Montessori Preschool since 34 months old and the two teachers remark at how incredibly task oriented he is. Even suggesting that we enroll him in private school in order to challenge him when he is older as he already knows the majority of the kindergarten curriculum before the age of 4.
The only thing that constantly reassures me is how he is a very social likeable little one who has all the personality traits one could ask for socially.
He sister who is now two, does not show any signs of stereotypic behavior.
Till then I will update periodically as it is helpful to know that others have the same worries as my wife and I. I really appreciate the responses from all of you. Every now and then I have a sleepless night wondering how he will get through school later on.
He turns 4 in October so we still have another year of preschool.
Thank you all again. J in BC, Canada