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  • Autism spectrum disorder research and developments

    Author: Karen Keast

The number of autism spectrum disorder (ASD) diagnoses is on the rise in Australia due to increasing awareness and detection. With early intervention crucial to improving long term outcomes for children with autism, researchers are working to improve early detection and diagnosis, writes Karen Keast.

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There’s a saying that ‘if you’ve met one person with ASD, you’ve met one person with ASD’.

Autism spectrum disorder (ASD) is an extremely heterogeneous disorder that presents differently in the difficulties and abilities of every person, making it harder to detect and diagnose early in children.

Autism spectrum disorder is a life-long neuro-developmental disorder that affects both a person’s social and communication abilities and features behaviours that are repetitive and restrictive. It also often includes sensory sensitivities.


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While it’s estimated one in 100 people have autism spectrum disorder, researchers at La Trobe University’s Olga Tennison Autism Research Centre (OTARC) have found most children are not diagnosed until they are four years old - more than two years after they can be accurately diagnosed and receive life-changing intervention.

Autism symptoms

The signs and symptoms of autism spectrum disorder fall into two main areas - social and communication as well as fixated interests and repetitive behaviours.

Dr Josephine Barbaro is a lead clinician at Australia’s first Early Assessment Clinic for autism spectrum disorder and a post-doctoral research fellow at OTARC.

Dr Barbaro’s research has made headway in the early diagnosis of autism spectrum disorder and has led to the development of ‘red flag’ markers or autism symptoms, used to identify at-risk babies.

“We really need to get the message out there that autism can and should be diagnosed in children under three, in those children who are presenting with symptoms of autism spectrum disorder,” she says.

      Social and communication deficits

Dr Barbaro says concerned parents and health professionals can look for key signs in the social and communication area for babies or children.

Signs of autism include difficulties or deficits in the child’s use of eye contact, shared smiles, gestures, responses and when it comes to imitating others.

“The behaviours we look for are whether or not children have difficulties or deficits in their use of eye contact, in responding to his or her name when someone calls them, and in engaging in pretend play, so pretending to feed a teddy or give a teddy a drink,” she says.

“We also look to see whether they have difficulty in copying other people, so for infants that would be copying facial expressions or blowing raspberries or clapping their hands and in older children that would be in domestic activities like sweeping the floor or pretending to comb their hair or things like that.”

      Fixated interests and repetitive behaviours

Professor Sylvia Rodger, director of research and education for the Cooperative Research Centre for Living with Autism (Autism CRC) which works in partnership with OTARC, says autism signs and symptoms are also found in repetitive and restrictive behaviours, such as an intense interest in particular toys or objects, or where a child has a narrow focus on an object, such as playing with the wheels on toy cars or lining cars up.

Professor Rodger says many children with autism prefer the same routines and find it difficult when it comes to changes in their day to day activities, such as parents taking an alternative car route to childcare or kindergarten due to roadworks.

“That’s all about the predictability being gone and then there’s severe anxiety around things not being the same,” she says.

Most people on the autism spectrum disorder also have sensory sensitivities.

      Sensory sensitivities

Children with autism spectrum disorder can under-react or overreact to sensory stimuli, from enjoying watching a spinning fan or wheels to wanting to only eat foods with a certain texture, such as smooth foods, or trying to block out the noise of a ticking clock.

“Certain noises just become disproportionately problematic for them and one of them is the noise of hand-dryers in public toilets,” Professor Rodger says.

“Those can be so distressing that they will avoid them or if a child hears that and is not expecting it, it can cause a meltdown in the shopping centre.

“We hear those noises as noisy maybe and unpleasant but they’re tolerable to us, the sounds that they hear are potentially ear-piercing, uncomfortable to the point of pain they will sometimes describe.”

Causes of autism spectrum disorder

There is no single known cause of autism. Researchers are examining whether there are multiple causes of this complex disorder, and are looking at genetics and whether there are links to environmental factors which could cause the brain to develop differently.

Professor Rodger says while researchers know more today than they did 10 or 20 years ago, there is still a long way to go before researchers uncover the cause of autism spectrum disorder.

She says the Autism CRC is creating the nation’s first and largest autism Biobank, which will collect detailed phenotypic and genotypic information from hundreds of families affected by autism.

“We are collecting blood and other biological materials from children on the spectrum and their mothers and fathers and we are trying to look at the genetic basis of the children’s situation,” she says.

“We need lots of children and families to be involved. We are hoping to be able to bring a whole new understanding together of what’s underpinning the condition.”

Assessment and diagnosis

In 2013, changes were introduced to the criteria that health professionals use for diagnosing autism spectrum disorder.

The previous fourth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM) listed children with autism spectrum disorder as having either Autistic Disorder, Asperger’s Disorder and Pervasive Developmental Disorder - Not Otherwise Specified (PDD-NOS).

Under the fifth edition of the manual, the DSM-5, there is now a single diagnosis of autism spectrum disorder with a severity ranking of levels one, two or three along the spectrum.

There is no single test to diagnose autism spectrum disorder.

Gold standard assessment for a diagnosis of autism spectrum disorder involves a multidisciplinary team of health professionals, including a paediatrician or a child psychiatrist along with a psychologist, speech pathologist or an occupational therapist.

There are a range of tests and tools clinicians use to diagnose autism, including two diagnostic assessment tools considered gold standard - the Autism Diagnostic Observation Schedule (ADOS-2) and the Autism Diagnostic Interview (ADI-R).

As part of a move towards developing national standards for autism spectrum disorder diagnosis in Australia, the Autism CRC is examining diagnostic practices for autism spectrum disorder across Australia and aims to establish a baseline of current assessment processes.

The Autism CRC has also developed the first course of its kind in Australia, a Graduate Certificate in Autism Diagnosis at the University of Western Australia, as part of its work to up-skill health professionals in improved and earlier and more accurate diagnosis.

Early diagnosis is paramount

Babies and children are continually learning, and much of that learning comes from watching and copying other people.

Autism spectrum disorder impacts a child’s ability to learn from others. Through early identification, families are able to access early intervention in the child’s crucial formative years, which can help children with autism spectrum disorder have improved long term outcomes.

Dr Barbaro, whose research in the early detection space is supported by the Autism CRC, says early detection and diagnosis is vital.

“Many parents are told to wait and see, to not worry, particularly if they go to the doctor when the child is under three, they will often say to wait until a child is two, three or four and to see if the child starts to develop but what we advocate for is to act as early as possible,” she says.

“Depending on what system they are in, families can be waiting for months or even years for an assessment, so it can be an incredibly frustrating experience.

“I think that the more we can educate people about what the early ‘red flag’ signs are, the more efficiently the diagnosis can happen, because if you have a child that is clearly displaying signs of autism then really you should be making the diagnosis as soon as possible.

“Then you can do all of the follow up work of the child’s language and cognitive ability, the extreme detail of that, can all come later.

“It’s really about an indication - ‘yes this child has autism and looks like they have a developmental language delay. Let’s get them into intervention as soon as we can’.”

While many children with autism spectrum disorder are diagnosed in their toddler or kindergarten years, some are diagnosed at a later stage when they are in primary or secondary school.

OTARC has launched a free smartphone app, ASDetect, that enables parents and caregivers to identify autism earlier. The app does not provide a diagnosis of autism spectrum disorder, instead it’s designed to provide parents with an indication as to whether they should seek professional opinion.

Dr Barbaro says while the app is targeted at families, health professionals can also tap into the app which showcases video-led assessment questions highlighting the developmental stages and the behaviour of children both with and without autism.

“In the first instance, we wanted to release it to parents so they could access it and we are now working on a professional version so that health professionals can use it,” she says.

“We certainly do encourage health professionals to navigate their way through this app, have a look at the videos and get a sense of what type of behaviours we are looking at.”

Working with families

Professor Rodger urges health professionals to listen to any concerns families may have about their child’s development.

“I really think mothers do know best when it comes to their child - they see their children all of the time. If there’s a concern it should be addressed, it should be followed up,” she says.

Dr Barbaro says health professionals should also raise any concerns they have about a child displaying signs of autism spectrum disorder.

“They can say - ‘look, we’re noticing that there are some social communication behaviours that your child is not engaging in and research is finding that children who aren’t engaging in these particular behaviours are at a higher likelihood of having autism. It doesn’t mean that your child does have autism but it’s important that you go for an assessment’.

“Then I would refer them on to whether it be a paediatrician or a psychologist and a speech pathologist as well, so that the parent is informed that it’s important to act now but also not to alarm them too much.”

About autism spectrum disorder (ASD):
  1. What is it? Autism spectrum disorder is a life-long brain-based condition that affects a person’s social and communication abilities and also features behaviours that are repetitive and restrictive. It affects every person differently.
  2. What causes autism? There is no single known cause or cure. Researchers are examining whether there are multiple causes of autism spectrum disorder.
  3. What are autism symptoms? Early detection and diagnosis are paramount for early intervention, which can improve a child’s long term outcomes. Autism symptoms can be found in social interaction and communications, such as reduced or inconsistent eye contact, gestures, responses and in imitating others, and in fixated and repetitive behaviours, such as an intense interest in particular toys or objects or a narrow focus on an object, such as playing with the wheels on toy cars. Most people on the autism spectrum disorder also have sensory sensitivities.
  4. What autism test is available? There is no single autism test. An autism diagnosis involves a multidisciplinary team of health professionals, including a paediatrician or a child psychiatrist along with a psychologist, speech pathologist or an occupational therapist. Diagnosis occurs through behavioural observation and developmental history. Parents and health professionals can use the free smartphone ASDetect app to identify autism earlier.
  5. How do I find out more? There’s a range of autism spectrum disorder organisations with information and resources for health professionals and families, including the Raising Children NetworkAmaze, Autism Speaks, the Autism CRC and OTARC.


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Karen Keast

Karen Keast is a freelance health journalist who writes news and feature articles for HealthTimes.

Karen regularly writes for some of Australia’s leading health news websites and magazines.  In a media career spanning 20 years, Karen has worked as a senior journalist in newspapers and television. She has covered the grind of daily news and worked as a politics reporter at countless state and federal elections.

Since venturing into freelance writing five years ago, Karen has found her niche in writing about the health sector for editors, businesses and corporations.

Karen has interviewed the heads of peak health organisations in Australia and overseas, and written hundreds of news and feature articles covering the dedicated work of health professionals who tread the corridors of hospitals and health services, universities, aged care facilities and practices, day in and day out.

Follow Karen Keast on Twitter @stylemywords