Saturday, November 29, 2008

Hormone treatment under development that may ease symptoms of those with autism

From The Australian Nov. 29:

In some ways 14-year-old Rob Armstrong is like any other teenage boy, given his affinity for computers.

In other ways the differences are striking. Not only do his computer skills exceed those of many of his peers, but he has skills in other areas that his mother Helen describes as "remarkable".

Flashes of brilliance were evident early: he was reading words and music by the age of 2, before he could even speak.

But other things were evident from an early age too, such as the repetitive utterances known as echolalia, and various phobias and obsessions. He also has problems with "face blindness", which means he has difficulty recognising people from their appearance.

Rob has autism, the often severe developmental disorder that interferes with someone's ability to interpret emotions, communicate and relate socially with the world around them. Rob is what is known as "high-functioning", meaning that he does not have an intellectual disability and in many academic subjects, particularly on the mathematical or scientific side, performs to a high level.

"In more abstract matters it's more difficult, and socially there are difficulties," his mother says. "There's a lot of social stuff that leaves him floundering. But there are a lot of really amazing things that kids like Rob have -- loyalty, honesty, truthfulness. And in areas where they are capable, they are extremely capable."

Unfortunately, many other people with autism have more significant problems than Rob: 70 per cent of people with autism have concomitant intellectual disability, while 30 per cent have a normal intellect.

What's more, the overall number of autism diagnoses is soaring.

Bruce Tonge, professor of developmental psychology at Monash University, says in the last 20 years the rate of autism cases has shot up from just four in 10,000 people to 1 in 160.

While much of this increase is due to changes in nomenclature -- many of the people now diagnosed with autism might a few years ago have been labelled with the now-defunct term of mental retardation -- it is not known if some yet-to-be discovered environmental trigger is interacting with the genes involved to cause a genuine rise in cases.

"We hear lots of wacky ideas, but we don't know (if the numbers are really rising)," Tonge says.

In the meantime, Tonge -- who with his Sydney-based colleague Stewart Einfeld is co-director of the Centre for Autism Research, Education and Service -- is supervising a new research study that, if successful, could lead to the development of one of the first treatments for core autism symptoms.

The research, funded by the federal Government's National Health and Medical Research Council to the tune of $180,000 over two years, is testing the ability of a naturally-occurring human hormone, oxytocin, to improve the ability of people with autism to recognise and react to emotions and to interact socially.

Currently, there are no effective treatments that directly tackle the complex and still mysterious disorder, although various drugs (such as antidepressants) and behavioural therapies are available to ameliorate its symptoms.

Oxytocin, sometimes referred to in popular literature as the "love hormone", is believed to help with bonding and the formation of relationships. It is present in both men and women but its functions are not well understood, being released both during childbirth and orgasm.

Tonge says that while autism and a related condition considered part of the same spectrum, Asperger's syndrome, have important differences, those affected share social impairments. "It's the social impairments that we hope oxytocin might target," Tonge says.

"If it improved people's ability to memorise other people's faces and emotions, it could have a very significant impact -- it would be the first treatment that would specifically impact the core symptoms of autism."

Clinical psychologist Adam Guastella, from the Brain and Mind Research Institute at Sydney University where CARES is based, who is leading the study, says previous research has shown that animals given oxytocin are prompted to form monogamous bonds. When given to healthy human volunteers, the hormone improves the ability to "read" emotions on another person's face.

Guastella acknowledges the research is preliminary, but says -- if successful -- the treatment "has the potential to revolutionise the treatment of autism. In the past there has never been an effective intervention to improve social communication problems in autism," Guastella says. "If it produces the effects that have been found in healthy patients, then it will be the first brief intervention to improve emotional perception and social function in autism patients."

The research aims to recruit about 40 males aged 12-20 with an autistic disorder. They will be given the nasal spray to use at home, and be followed up over a period of time.

Guastella says most previous treatments have attempted to reduce anxiety, and involved putting kids on anti-depressants or medication to reduce repetitive behaviours -- which did little to improve social skills, much less autism (the root of the problem).

Behavioural training has been another area of previous research. Guastella explains that the goal behavioural training is to break a task down into several basic steps -- so brushing the teeth could be broken down into picking the brush up, turning it in the hand, raising it to the mouth, moving it up and down or in a circular motion in the mouth.

"What they tended to show was that if you put a lot of effort into training techniques when kids were very young -- you are talking about hundreds of hours -- you would get some improvements in ability to function," Guastella says. "The initial data were quite exciting, and showed people with some mild autism could get to a level where they were functioning almost at a normal level.

"The problem with that sort of training technique is that it's less successful for people with more severe forms of autism ... (and) most parents don't have the money or the support structures in place to be able to complete hundreds of hours a year with young kids.

"That's as far as we have got in improving social skills. It's almost an area that people have given up on -- there hasn't been a lot of research and it hasn't been an area of major focus in the scientific literature because people haven't been sure what else we could do.

"With oxytocin, that's why people have got so excited and are referring to it as a revolution, because it could lead to a whole new wave of treatments."

Stewart Einfeld, who as well as being co-director of CARES with Tonge is also head of child development research at the BMRI, sounds a note of caution, saying while he is "confident" that oxytocin will improve symptoms, it remains to be seen whether that necessarily flows on to a meaningful improvement in patients' lives.

"It's one thing to say that the capacity to understand emotions is improved in an experimental setting," Einfeld says. "It's another thing to say that as a consequence, they are functioning better and are able to get better jobs or are living more independently. You can't be predicting too many long-term benefits until you have done the work."

Meanwhile, Helen Armstrong is pleased her son decided to enrol in the study, because of the potential that a successful treatment might have to improve his ability to recognise faces. She says any effective and simple new treatment would be welcome because accessing existing therapies was a battle.

"We fought tooth and nail to get help early on -- but when your child is 2 1/2 and you have to wait 10 months for an 'urgent' speech pathology appointment, any help makes a big difference," she says.

She has two other children, Rob's 22-year-old sister and 25-year-old brother, who both have traits of Asperger's syndrome. "It doesn't just run in our family -- it gallops," she says.