Tourette syndrome and CBIT
Since picking up a sabre four years ago, Alexandra Hely has become a rising star in Australian fencing and already has her sights set on the 2020 Olympic Games.
The 14-year-old currently has a strong sense of her capabilities but for several years a neurological disorder crushed her self-confidence and made her feel like a “freak”.
At the age of seven, Alexandra was diagnosed with Tourette syndrome, a condition characterised by a vast range of involuntary movements and vocal tics. They range from simple ones such as head jerks, sniffing and snorting to complex routines that involve a series of movements.
Named after French physician Dr Georges Gilles de la Tourette in 1885 after he released a paper in which he described nine people with the tic disorder, it affects about 1 per cent of Australian children.
While it is widely linked through media with a tic known as coprolalia – the urge to yell random obscenities or racist slurs – this affects only a small percentage of the TS community.
“These sorts of distortions surrounding Tourette’s, including the view it is an intellectual impairment or children misbehaving, has resulted in unimaginable suffering,” says Tourette Syndrome Association of Australia (TSAA) president Robyn Latimer.
“One of the first books I read on Tourette’s history mentions the fact some families felt so shamed by the reaction to tic behaviour they hid their own people away in psychiatric hospitals,” she adds.
The lingering stigma is still one of the hardest hurdles for many modern families to overcome when children are first diagnosed.
Alexandra’s mother, Sonia, says that long before diagnosis she sensed something was wrong with her daughter. From the age of two Alexandra would constantly rub her nose. But it would be five years before Tourette’s was diagnosed.
“It takes a year of monitoring before doctors can make an official diagnosis, during which time Alex experienced 15 different tics, and most of them were the large-movement type,” says Sonia.
“Oh, gosh, one of my worst early tics was cartwheeling,” adds the Sydney teen, slightly embarrassed at the memory. “I used to cartwheel all around the netball field and up and down the bus line at junior school.”
Sonia says she and Alexandra can both laugh now but she remembers the first few years as a swirl of grief and fear for her daughter’s future.
“It was a difficult time, particularly in public where people would stare oddly and make Alex feel – in her words – like a freak.”
“We basically went into hiding for a while to protect her and I spent every waking moment searching for answers.”
Child psychiatrist Professor Valsamma Eapen, of the University of New South Wales, who is an international authority on Tourette syndrome, has weighed in on many controversial TS issues, including its relationship with other disruptive behavioural disorders such as attention deficit hyperactivity disorder.
“Historically it was considered a bizarre curiosity and very rare, but its prevalence is higher than many imagined,” says Eapen.
She says current thinking is that the cause is a neurochemical malfunction in the brain’s neuronal circuitry that controls voluntary movement.
There are excitatory and inhibitory neurone pathways that carry the movement messages to and from the brain, and it is thought the overactivity of dopamine – an excitable neurotransmitter – may lie at the heart of abnormal movements.
“In simple terms, it is the opposite to Parkinson’s disease, which has low levels of dopamine so you get rigid and stiff. But an excess of dopamine is what makes Tourette’s patients have involuntary, overactive movements,” says Eapen.
Treatment now includes several options, from medication to inhibit the overactive dopamine system as well as behavioural therapies focusing on relaxation and tic reduction techniques.
Comprehensive behavioural intervention for tics (CBIT), a therapy developed in the United States, is gaining traction throughout Australia as a way to ward off oncoming tics. The training aims to provide patients with strategies to become aware of premonitory urges just before tics and to use countermeasures that make the tic harder to do.
For example, a child with a frequent throat clearing tic would be taught to engage in slow rhythmic breathing whenever they feel the urge to clear their throat.
Eapen, who recently carried out a clinical trial on CBIT involving 17 patients, found a statistically significant improvement in tic symptoms. She stressed, however, the treatment does not work for everybody.
While tics get better with advancing age and many people learn to better manage them, some continue to have significant tics even in adult life.
Latimer, in her role as TSAA president, is a fervent advocate for children and adults with Tourette’s. She says her focus has been to demystify the condition so that no child with it is ever denied education, social inclusion or work opportunities.
“My first aim was education,” says Latimer. “It really annoys me when I hear about people in influential positions like politicians describing somebody who has gone on a tirade with bad language as having a ‘Tourette’s episode’.”
“Coprolalia is not what the condition is all about, but it seems to fascinate the media,” she says, referring largely to US comedy film Deuce Bigalow, whose mismatches include a woman with Tourette’s who swears so loudly and randomly the only place to take her is a ball game.
“Some do it [studies show about 10 per cent], yet it is widely used to define and ridicule a complex condition,” says Latimer. “The hardest part is getting people to understand the tics are not purposeful – they look like they are done with intent but they’re not.”
Latimer applauds the likes of The Voice runner-up Adam Ladell for his courage in stepping into the limelight.
“Adam is a great advocate because he is articulate, intelligent and courageous,” she says. “He let other kids with Tourette’s know they are not alone.”
On the question of treatment, Latimer says her association strongly endorses CBIT and is working to promote it throughout Australia.
“We want to see people like psychologists, nurses, even social workers trained up, particularly in regional areas where specialist resources are scarce,” she says.
Alexandra Hely underwent CBIT training through Macquarie University five years ago and is convinced that, combined with other calming techniques, it has dramatically reduced the intensity and frequency of her tics. “I also do music, yoga and, of course, fencing, which I absolutely love,” she says.
Alexandra competes at national and international level and hopes to represent Australia in the 2018 Youth Olympic Games (sabre) in Argentina.
Much like Ladell, who became tic-free when singing, she does not tic while fencing.
Experts are not certain what drives the mechanism behind these phenomena in behavioural disorders such as Tourette syndrome and stuttering, but they put it down to hyper-focusing, which takes place in a different part of the brain.
“I clearly remember Alex’s psychologist telling me, ‘You’ve got to find her island of competence’, and those words stuck with me,” says Sonia.
“We found that island of competence four years ago, the day she picked up a sabre and started waving it around while her brother was training. Oh my God, the difference it’s made in her life, it was like we had won the lottery!
“I want that for every person with Tourette’s.”
This article was first published in the print edition of The Saturday Paper on Aug 20, 2016 as "Repetitive strains". Subscribe here.