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Researchers unravel genetic characteristics that increase risk of developing Tourette syndrome
New Medical Life Sciences
August 10, 2017

An international research team including Vasiliy Ramensky, a member of the MIPT Life Sciences Center, has unraveled genetic characteristics that increase the risk of developing Tourette syndrome. Tourette's is a central nervous system disorder which is often inherited. The scientists compared the data of thousands of people with Tourette's and healthy people, and it turned out that in people with the condition there are significant modifications in two genes -- NRXN1 and CNTN6. The paper detailing their study was published in the journal Neuron.

Why is Tourette's important?
Tourette syndrome is characterized by motor and vocal tics, and it manifests itself in childhood. Patients often make uncontrolled movements and sounds (swear words in 10% of cases). The impulse to have a tic feels like growing tension which has to be released. It is very similar to the urge to sneeze. Tourette's is not a rare disease. It is found among 0.3-0.9% of the population, and the children of those who suffer Tourette's are 60 times more likely to have it as well. However, the syndrome can also appear in children with no family history of the syndrome. About 85% of patients suffering from Tourette's have co-occurring conditions, such as obsessive-compulsive disorder, attention deficit hyperactivity disorder, autism spectrum disorders, anxiety, and depression. The fact that the mechanisms of these illnesses and Tourette syndrome converge means that Tourette's studies can shed light on the causes of other mental disorders.

Are the genes to blame?...
It is believed that Tourette syndrome is a developmental disorder of the brain and nervous system. This is partially proved by the fact that the symptoms start to appear in childhood and peak during adolescence. However, the exact causes are unknown. There is no doubt that the disorder is of a predominantly genetic nature, but the particular genes that increase the likelihood of developing Tourette's have not yet been identified. Candidate regions found in different research studies rarely coincide. This suggests that the condition is caused by combination of various genetic factors, in other words, it has complex genetic architecture.

...or their copies?
Modern genetic studies focus on searching for point mutations and significant genetic rearrangements. Significant rearrangements in the genome, which are called copy number variation (CNV), can lead to deletion, gene fragment loss, or, on the contrary, to gene duplication with repeat chromosome regions. The number of gene copies in an individual genome affects the quantity of protein encoded by the gene: the more copies, the more protein. However, not all chromosome rearrangements affect vital gene segments and not all of them are related to diseases.

What did the researchers do?
The researchers studied the genetic data of 2434 people with Tourette syndrome and 4093 healthy people (the control group). The scientists cataloged all deletions and duplications in each genome and classified them according to frequency, length and whether they affect genes or not. It turned out that rare and long chromosome rearrangements affecting genes were found, on average, more often among the people with the disorder than among people from the control group. This suggests that these types of chromosome rearrangements, in particular, have clinical utility. The researchers then identified which genes suffer the most from these rearrangements. It was found that people with Tourette's frequently had significantly more deletions in the NRXN1 gene and duplications in the CNTN6 gene. Proteins encoded in these genes (neurexin 1 and contactin 6) are involved in the process of cell fusion in the nervous system.

Deletions affecting NRXN1 have already been described in papers on other mental disorders, in particular, schizophrenia. The link between deletions in NRXN1 and Tourette syndrome has already been shown in earlier studies in a small sample of cases. It is now safe to say that this type of genome variation increases the risk of developing the condition. Duplications in CNTN6 were linked to Tourette's for the first time, though deletions affecting this gene have already been noticed in cases of autism spectrum disorders.

Vasily Ramensky, a member of the Genome Engineering Lab of MIPT's Life Sciences Center, comments: "Gradually, step-by-step, we are gathering information about the genetic architecture of Tourette syndrome. In this paper, we have made an essential step in this direction, as it is now statistically proven which genomic changes in the genes discovered are linked to the predisposition to the condition. This gives the opportunity to provide better diagnoses. Our next step is to work out how such rearrangements in the found genes affect cell operation. Understanding these mechanisms will help in finding new therapies."

Source:
Researchers find the genes responsible for motor and vocal tics in children Moscow Institute of Physics and Technology
 

Wendy

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We were perplexed that our son has Tourette. We have no known history in the family. Although, anxiety, depression and bi- polar is in our family trees!!!
After much discussion with professionals and a lot of persistent reading on my part. It made sense to us.
Good review for me!:)
 

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Thank you for your observations, Wendy! How is your son and your family doing in light of your son's diagnosis?

Are your son's TS symptoms causing him any impairment, pain or discomfort?
 

Wendy

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My youngest son is (pardon the expression) black and white.
He doesn't fully understand Tourette either. Although, we have taken the proper steps to help him understand each year as he gets older.
And of course my youngest whom is very smart. Tries to emulate my son with Tourette thinking he will achieve the same response. Sadly, for him it doesn't work.
Overall, my youngest struggles with my oldest with Tourette more than he should. We do the best that we can on a daily basis.

---------- Post Merged at 02:25 PM ---------- Previous Post was at 02:19 PM ----------

My sons Tourette does not cause him pain physically. His tics are not severe as of yet. He is 11 and we have know since he's 5 ( or before just undiagnosed)
He has more pain emotionally and mentally. He is extremely social and finds it heartbreaking to be socially rejected and bullied.
 

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Thank you for the additional information, Wendy!

Have you and your son ever participated in any local Tourette support groups, where both you as a parent and your son could meet and interact with other families and young people living with Tourette?

If your son feels alienated because of his symptoms, he may benefit from learning some pro active strategies that can diffuse much of the confusion other kids might have about your son's symptoms.

Does he have a prepared explanation to provide to anyone who might inquire or even challenge him for his tics?

The explanation I recommend is, "The sounds and/or movements I make are because I have Tourette Syndrome. Tourette Syndrome is a neurological disorder I was born with, and the movements / sounds are involuntary. Are you familiar with Tourette Syndrome?

I recommend this explanation because it hits the important points:

  • The name: Tourette Syndrome repeated three times so there is no misunderstanding
  • Disorder..it is NOT a sickness nor a disease and it is not "catching"
  • Neurological: the disorder is in the brain wiring; it is genetic and we are born with it.
  • Involuntary: NOT Behavioural...a critical distinction to make, especially with skeptical teachers and poorly informed adults.
  • Ends with a direct question to invite a dialogue to further awareness

It is recommended that this be rehearsed with a parent or other trusted friend or family member, to become familiar with the words and to learn other important facts about Tourette. Have available a FAQ type brochure such as those attached to this post, that can be given to the person making the inquiry.

He needs to appreciate that his Tourette should not be seen as an obstacle, because his disorder doesn't affect his great personality, his intelligence, his ability to learn, to study or to learn. With hard work and perseverance he can accomplish just about anything he desires in life.

You may also consider some resource material such as some excellent books that can help with perspectives and further understanding.

One of my favorite recommended books is published by the Tourette Association of America and is available very inexpensively as a Kindle book on Amazon.

please see: A Family's Guide to Tourette Syndrome

Also check out Tic Talk for your son as well as Coping with Tourette Syndrome: A Workbook for Kids with Tic Disorders

Has your son ever been provided any form of treatment or therapy for his symptoms? Does his TS diagnosis include any associated diagnoses..ADHD, OCD, mood and/or anxiety, sensory issues?

my youngest whom is very smart. Tries to emulate my son with Tourette thinking he will achieve the same response. Sadly, for him it doesn't work.

How does that work?
 

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Wendy

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By personal choice I have attended an abundance of sessions about Tourette, ADHD, Anxiety, OCD etc I'm an educator and I've made it my job to be fully prepared in and out of the classroom to handle what may occur with my son and with my profession:)
Both my son and I have been to a Tourette conference together in hope that he would be ready to talk openly about Tourette with his friends and classmates. Not a lot of luck but comforted him to know he was not the only one that felt the way he does.
It has only been this last year that he has finally been open with a teacher about his needs and challenges.
Both my husband and I have encouraged him to discuss Tourette with his peers. He's not ready and fears he will be rejected if he does. ( yes its perplexing but I cannot force him to be uncomfortable) although, I've seen him grow slowly with confidence within himself about the syndrome. He is a highly intelligent lovable child and those who see that in him become a part of his life.
He is sensitive and selective to those he trusts and allows in his world.
We do go and visit the Tourette clinic every 2 -3 months for updates and talks. I don't have a group to talk to like I use to. but,
I have a few mom friends that have children with Autism and we are sounding boards for each other.
I live in Red Deer, Alberta and the Calgary and Edmonton group meetings during the week days can be to far to travel with my extremely busy life:)
I suppose I could put on my bucket list to seek a formal group for my benefit.
 

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Wendy,

You may wish to investigate whether behavioral therapy might be right for your son at some point in the future.

As you may know, a form of behavior therapy (CBT) combined with habit reversal therapy (HRT) that is called Comprehensive Behavior Intervention for Tics or CBIT has become an effective form of treatment in the management of Tourette tics in children eleven and older.

While there are a number of practitioners (psychologists and other medical professionals) who have received CBIT training in Canada, I am not aware from the information I have that there is an accredited CBIT practitioner in Alberta. There are a number in B.C, and Sask and Manitoba, however.

An option you may consider is to use the online CBIT trainer TicHelper.com that has been designed by the researchers and developers of this form of therapy, with the goal of making it available to parents in geographical areas where accredited practitioners are not available.

I have had the opportunity to see TicHelper software and can say that it has been set up as effective guided therapy at a very reasonable cost.

Attached is a copy of an overview article I've written that explains more about CBIT. The article contains links to relevant videos you can view to learn more about CBIT from the leading authority on the subject, Dr. Douglas Woods PhD
 

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Wendy

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My deepest apologies for taking so long to return a huge thank you for this valuable information.
Life became hectic for awhile.
I will be sure to investigate the tic helper software. I do know that my sons most challenging years are ahead of him and I need to prepare now.
Also, I spoke to my son about talking or telling his friends about what makes him who he is ( A boy with Tourette) He doesn't want to go there yet.
I'm ok with that , it has taken him years to make a few friends he's not willing to be rejected or feel alone. When he's ready to talk. I will always be ready, eager, supportive and proud:)
 

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Wendy,

Take the time you need, and provide your son the information and support at the level and degree he needs at that given moment.

As long as he knows that Mom has an "open door" to help him as he needs it, he'll benefit from what you do.

In the meantime, know that there are resources available to you when you need them, and that we are here to help.

I would also urge you to view the YouTube videos that are referenced in the article I provided you to gain a better understanding of the dynamics of Tourette in your son's brain, and how behavioural modifications can help him manage his symptoms.
 
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