Issue 12 / 7 April 2015

FIFTEEN years ago in an interview for The Guardian, English writer Nick Hornby described the tortuous process of his son’s diagnosis with autism.

"I think the word autism was floating about somewhere. I still remember it was something of a shock going for the first meeting [with a paediatric specialist] … He was quite flustered. He looked at Danny … and he suddenly said: 'Global development delay … don't really know …’

“It was all a million words a second and devastating information. That was the real shock day. But then it was a year after that that Danny was finally diagnosed autistic. By then it was no surprise: we had come to our own conclusions. It seemed fairly certain to us.”

Hornby’s son was diagnosed at age 3 years, much earlier than was usual at that time in the UK and, as discussed in an MJA InSight news story this week, probably ahead of the average age of autism diagnosis in contemporary Australia.

AN MJA study has found that children claiming a federal government assistance package for autism between 2010 and 2012 had been diagnosed at an average age of just over 4 years and commonly at around 6 years.

According to the researchers, this is concerning because we know that a reliable diagnosis is possible from about 2 years of age, that early intervention has the potential to significantly mitigate symptoms, and that having an autism diagnosis is the gateway to accessing such intervention.

One expert told MJA InSight that one of the things impeding autism diagnosis in Australia was “a lack of uniform diagnostic standards” — or even a full understanding of how different health professionals approach diagnosis.

A vigorous and well publicised debate about diagnostic criteria in a different discipline — obstetrics — is the subject of another of our news stories.

At the beginning of this year, revised guidelines for the diagnosis of gestational diabetes (GDM) from the International Association of the Diabetes and Pregnancy Study Group started being introduced into clinical practice in Australia.

The new guidelines and their evidence base have been the subject of several articles in the MJA — one published this week is in response to earlier criticism that the new criteria will wrongly diagnose some women with GDM and miss others at high risk.

While the Royal Australian College of General Practitioners shares these diagnosis concerns and is advising members who practise shared obstetric care to stick with its criteria, all parties agree that the task of identifying women at increased risk of pregnancy complications from hyperglycaemia without unnecessarily “labelling” others is difficult.

From the patient’s perspective, receiving any diagnosis can bring anxiety and other negative emotions.

For parents of a child with autism it might be a confirmation of long-held fears, a loss of expectations and resignation to a lifelong need for extra support. For women with GDM it transforms a “normal” pregnancy into a navigation of excess risk and a need for medication and/or lifestyle modification at a time when such things are least welcome.

For some people and conditions, however, relief can be the dominant emotion. In my experience, this is often the case for patients with coeliac disease, who can sometimes endure months to years of malaise, lethargy and non-specific symptoms before someone finally pieces together the clinical picture and arranges testing.

A comment in this week’s MJA InSight comes from a person who combines her perspective as a doctor, someone with coeliac disease and a mother of a child with the disease in a reminder that coeliac disease should be higher on the diagnostic radar for patients presenting with gastrointestinal or other unexplained symptoms.

Coming to a diagnosis can be seen as an ending or a beginning but very often it is a lesser punctuation point in the long missive of a doctor–patient relationship.

Whether you arrive at that diagnosis via an instant flash of recognition or a tortuous process, it is worth remembering this piece of wisdom from William Osler:

“It is much more important to know what sort of a patient has a disease than what sort of a disease a patient has.”


Dr Ruth Armstrong is the medical editor of MJA InSight. Find her on Twitter: @DrRuthInSight

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