by Zareen Afridi
Tourette’s syndrome is a nervous system disorder that makes people to do sudden movements or make unusual sounds called tics. These movements and sounds are involuntary and are not in control of the patient. Some of these are simple and some are complex.
Blinking the eyes repetitively,clearing the throat and using foul language are some of the first noticed signs. The symptoms start early in childhood and are more likely to happen in boys rather than girls. People who have someone with Tourette’s in their family have a greater chance of getting affected by either the same or different type of tic.
The symptoms can vary from mild to severe. Some tics are unnoticeable and are not a matter of concern. Some are visible and may become embarrassing in social or work life. Motor tics include arm or head jerking, blinking, making faces, mouth twitching or shoulder shrugging. Vocal tics are yelping, clearing throat, grunting, coughing, repeating or mimicking someone's speech on gesture, shouting, sniffing or swearing.
In India, around 1 out of 100 people suffer from this disease. Although there is no cure to Tourette’s syndrome, certain medication and therapies are administered for the patient. These are aimed to minimize the tic behavior in a person by making him more aware and in control of their tic. The treatments are carried out in cases of severe tics whereas mild tics do not need any therapy or medication.
An International team conducted the largest study on Tourette’s Syndrome. The researchers focused on a new area of genomics which looks at an entire genome broadly rather than focusing on a particular gene. Dr. Peristera Paschou, Associate Biology Professor from Purdue University says that the scientists have been exploring the short sections of genes which are repeated in a singular genome. This copy variation is different in individuals and has an effect on health.
These variations may involve a large part of DNA and may cover all genes. After scanning the entire genome and finding the variation through physical analysis, the reasons for Tourette's can be found. The variants at such a huge level are rarely found this is why this is a great milestone in research.
Dr. Jeremiah Scharf of the Psychiatric and Neurodevelopmental Genetics unit in the Massachusetts General Hospital Centre for Genomic Medicine, co-senior author of the report believes that this is a significant finding. He says that recognizing Tourette’s syndrome as not a single gene disorder has been a long term aim for the study. This research was published in a popular science journal, ‘Neuron’. Other co-senior authors of the study were Dr. Giovanni Coppola from the David Geffen School of Medicine at University Of California, Los Angeles and Dr. Carol Matthews from the Genetics Institute at the University of Florida. This International research made the discovery from 57 researchers comprising from 11 countries.
The traits inherent in Tourette’s syndrome patients include neuro psychiatric disorders, attention deficit disorder, anxiety, depression and autism. Dr. Paschou says that this disease is difficult to diagnose and needs a large number of patients to analyse the root cause. This study had 2400 TS patients and 400 subjects of control group which is a great milestone.
Dr Paschou also stresses on the need of developing new drugs for the treatment of Tourette’s syndrome as the current treatments come along with additional unwanted side effects. Dr. Scharf believes that a strong foothold and dedicated efforts to study the science behind Tourette's syndrome will lead to broader and relevant discoveries in neuropsychiatry. The doctors have planned an even larger study that might gel up in coming two years where a sample of 12000 patients will be tested. The doctors give the credit of successful research study to patients and their families for supporting and believing in them.
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