Australasian Science: Australia's authority on science since 1938

Early Autism Diagnosis

By Stephen Luntz

Josie Barbaro has pioneered a new method of autism diagnosis, and many children are already reaping the benefits.

Thousands of autistic children are deprived of the chance to reach their potential as a result of not being diagnosed sufficiently early. Dr Josie Barbaro’s PhD thesis explored using maternal and child health care centres to address this problem, and the awards she has won in the process confirm the excitement her work is generating.

Not long ago only one American child in 10,000 was diagnosed with autism spectrum disorder (ASD), but that rate is now one in 88. The shift is largely a result of alterations to the definition and better diagnosis, but the increase has caused alarm.

Many early diagnosis tests rely on parental observations, but Barbaro notes: “Parents may not know what is normal development, particularly if it is their first child. Some tests out there have almost 100% sensitivity, but they achieve this by casting such a wide net that any child who is at all unusual gets picked up.”

Applying more reliable tests to these children is expensive, and Barbaro is also concerned about the effects of uncertainty on the parents. Instead, she has focused on training large numbers of child health professionals who inevitably have a much better understanding of the range of behaviour in children 12–24 months old. Behaviours monitored include widely accepted markers such as making eye contact, imitation, pointing and pretend play. She calls her work the Social Attention and Communication Study (SACS).

“My supervisor and I spent 3 months training staff at 184 Maternal and Child Health Centres. It was exhausting,” Barbaro says. However, the reward came in the assessment of 22,000 children, a huge sample size for such a study. Of 110 with a SACS result justifying further assessment, 81% were found to have ASD. Further study has indicated that the sensitivity of the study (i.e. proportion of autistic children sent for further assessment) was 84%.

For such a widely available tool to achieve rates of both accuracy and sensitivity above 80% is remarkable. Barbaro was awarded the best clinical dissertation of 2011 by the International Society for Autism Research, the most prestigious award in her field in the world for doctoral students. La Trobe University also honoured her work with the Nancy Millis PhD Prize for thesis of the year in the Faculty of Science and Technology.

“I think my project has had success because it has a very applied focus,” Barbaro says. “I’m not only uncovering interesting information that is informing the literature, but also having a direct effect on those involved.”

Since completing her thesis, Barbaro has started to work on an even more accurate test called SACS-revised. “I have to get grant money for it now my PhD is over, so it is on a smaller scale, but I have learnt from the previous work and I’m collecting the data electronically rather than by hand, so I think we will be able to do this much more efficiently.”

Barbaro is also collaborating with her colleague at the Olga Tennison Autism Research Centre, Kristelle Hudry, on trying to achieve reliable diagnosis in children less than 12 months old. This requires observations of brain activity rather than behavioural cues.

“There is plenty of evidence, particularly from America, on the benefits of early diagnosis,” Barbaro says. “Children that were pre-verbal become verbal as a result of early intervention, whereas without intervention they may never become verbal. It’s not a cure. Autism is a lifelong disorder, but early intervention can help children maximise their potential.”

Barbaro says she is “really interested in developing a parent training program. Just before or after a baby is born we would conduct parent education on what to expect in a child’s development: milestones, and where to seek help if the child is not meeting those milestones.

“It is not autism-specific; a lot of parents don’t know what to look for. They might know what age a child should be walking or talking, don’t know when they should point to things, or clap or wave goodbye. These are really basic milestones that are simple to convey.”

Autism research was not something Barbaro was drawn towards as a child. “As an undergraduate I didn’t even know what autism was,” she says. As a child she was interested in IT or becoming an orthodontist, but she became fascinated by psychology in Year 12. At university she planned to become a psychologist, but unexpectedly gravitated to the research side.

“I got into autism because my Honours supervisor had done a lot of research on autism,” she says. “So it is something I just fell into, but I am really glad I did.”