National TSA Honors Marilyn Trichon

Marilyn Trichon, our chapter’s co-chair and Director of
Education, received the TSA National Distinguished
Educator Award at the 2008 National Conference.

Yale Child Study Center Conducts Study, September 2007
The Child Study Center of Yale University is conducting a funded, well-organized clinical study of people aged 16 and over who have Tourette Syndrome.

For more information, contact Dr. Denis Sukhosolsky at (203) 785-6446 or email Denis.Sukhodolsky@yale.edu.

Westchester Holds Dinner

On April 3, the Westchester Support Group had a successful “Dine-for-Tourette” dinner at Sam’s Italian Restaurant in Dobbs Ferry. Maurice, the owner, once again generously donated 30% of the evening’s proceeds to our chapter. The food was delicious and the atmosphere was festive.       

We thank Maurice for allowing us to have this very successful fundraiser at his wonderful restaurant and greatly appreciate his contribution to our chapter! We also thank Bobby’s Balloons for their generous support.

 

 

 

 

 

 

 

Chapter National TSA Holds National Conference

The 2008 TSA National Conference was held in Alexandria, Virginia April 4-6, and four chapter volunteers attended to learn the latest tools and strategies to help people with TS and their families.

 

                                    

  

      

       

 Herb Serenson, Marilyn Trichon, Helene Walisever, Hava Udalevich                               Keith Tilley was also at the conference.

 

 

Genetic Breakthrough Yields Clue to Tourette Syndrome
In what is being called a significant breakthrough in understanding the genetic underpinnings of Tourette Syndrome, researchers have identified a gene mutation that appears to lead to this neurological disorder in some individuals.

In a paper published in Science (October 14, 2005), findings were reported by a team led by Dr. Matthew State, Assistant Professor of Child Psychiatry and Genetics, Yale University School of Medicine and Child Study Center. Pursuing genetic analysis of one boy with TS with a known chromosomal abnormality, the group was able to pinpoint a gene (SLITRK1) on Chromosome 13 that is associated with some forms of TS. This gene is expressed in several areas in the brain - specifically the cortex and basal ganglia - the same brain regions previously implicated in causing TS symptoms. When functioning normally, this gene is involved with the growth of neurons in these regions. In other affected individuals, two additional rare abnormalities in this gene were identified.

Dr. State's group was able to then confirm their findings in a number of ways: by performing several additional tests on non-affected relatives (the initial mutation was not found), and by determining that none of the abnormalities identified in patients were present in many thousands of chromosomes from unaffected individuals. Additional testing in cell cultures showed that the genetic changes identified altered protein function or expression. Taken together, these converging results suggest that this gene is associated with some forms of TS in some families.

The national Tourette Syndrome Association (TSA) has provided substantial funding for a significant number of TS genetic studies for over two decades. It now appears that after many years of support, a critical discovery has been made.

The Association and its Board of Directors has already moved quickly and approved additional support to continue this work.

Last year Dr. State was awarded the TSA Early Career Research Award for his work toward identifying the genes involved in TS. At that time, TSA funding also was awarded to Nenad Sestan, MD, Ph.D. a co-author on the paper. With this additional TSA funding, Drs. State, Sestan and colleagues will now pursue the development and investigation of a mutant mouse where the suspect gene has been inactivated. Development of such a "knock out" mouse will allow the team to examine the impact of this gene mutation on normal brain development.

"While not a cure, TSA's funding of this effort is not only a logical 'next small step,' but it is also potentially a 'giant leap' for the broader field of TS science, and especially for the long-standing efforts by scientists to identify the causes of, and improved treatments for this disorder," said Dr. Neal Swerdlow, Chair of TSA' s Scientific Advisory Board and neuropsychiatrist at the University of California, San Diego, School of Medicine.

Through newsletter articles and subsequent advertising for families with known chromosomal abnormalities, the TSA was able to locate and then refer the family that proved critical to this study to Dr. Carol Mathews (UCSD) who did a comprehensive assessment of the family. She in turn forwarded that information on to Dr. David Pauls (MGH) who knew that Dr. State's lab was performing studies on chromosomal abnormalities in TS. Both Drs. Mathews and Pauls are members of the TSA International Consortium for Genetics. Monte Redman, TSA Chairman, said, "We are particularly gratified by the fact that, ultimately, this close collaboration among TS scientists bore such valuable fruit."

Dr. State commented, "TSA has been indispensable in helping us in our research on Tourette Syndrome. The Association has always been extremely encouraging to me and my research and has continually worked hard to insure that relevant patients are brought to my attention and sent to my lab. Finding these kinds of specific patients is like finding a needle in a haystack, and without the TSA, we would never have gotten this lead."

Marked by involuntary twitching and vocal tics, TS is an inherited, neurobiological disorder frequently misunderstood and misdiagnosed, affecting more than 200,000 Americans. TSA is a national voluntary organization comprised of a network of 35 chapters with over 300 support groups across the country.

A Letter from Marilyn Trichon, Co-Chair and Education Specialist

Over the years we have done 5 conferences for educators.  This year we decided we needed to reach more people. Since it is difficult for teachers to get release time for professional growth, our chapter is going to the schools. It is more work for us, but we reach more people. The education committee has been very busy, educating over 500 people in many school districts.  But we have a long way to go.  It is so important that you contact your school to make sure your district has scheduled a workshop.  There are so many misconceptions about Tourette.  The professionals have to understand that Tourette is not just tics.  It is the associated disorders, ADHD, OCD, Anxiety, Sensory Difficulties, Fine Motor to name a few difficulties that make it difficult for learning. There also needs to be more peer in-services to discourage bullying.  Our children are going through so much; teasing makes it even more difficult for them.

Three more people have volunteered to learn how to do the in-services in the schools, bringing the total to 9.  We need more of you to help us, especially in the northern counties.  We also need more funding to support us.  We hand out many material for these free in-services.  The more we do, the more it costs.  Please be generous and help us help your children.

We are here to help you in a variety of ways, and we hope that you will take the time to look at what we've been doing and become even more involved in our chapter.

If you would like us to speak with your school district, you can call the chapter phone, 914-378-5025, or email us at info@tsa-nyhv.org.