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 firstname.lastname@example.org 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.