Up to 75,000 New Zealanders could be on the autism spectrum and diagnoses are increasing. Sally Blundell investigates why.
“We went to the SPCA and gave it the money,” says her mother, Lynne Hansen. “It was all her idea. She has an amazing little mind, and so much empathy.”
Even as a preschooler, however, there were signs something “wasn’t quite right”. Amy was emotive, reactive and easily frustrated when she could not convey her feelings. “She was a very independent little girl, not very huggy, very inflexible in her thinking. You felt at a loss because you didn’t know how to help this lovely, curly-haired little girl – it was an awful time.”
Amy was seven when she was diagnosed with autism but Hansen recognised the signs long before then. “She is intelligent, animated, but she struggles to manage herself. She is a perfectionist – if she hasn’t got a clear pathway from start to finish where she can succeed, she will have a meltdown. So I knew Amy was on the spectrum – I just did not have the diagnostic piece of paper.”
When that piece of paper finally arrived, Hansen says, “It was awful to see her name written next to ASD [autism spectrum disorder], to think she has a difference which is a lifelong neurological disorder. It is hard, really hard, and you get tired as a parent, but you have to push through even if you don’t see the immediate benefit. She is our daughter, our little girl. We know her difficulties but she is the coolest little kid.”
On a rare family holiday to Wellington, eight-year-old Charlize was mesmerised by the World War I exhibition at Te Papa. “She loved it,” says her father, Peter Casey. “She was asking all these questions – she had a real sense of being there.”
Charlize was diagnosed with autism when she was three. Since then, her two younger sisters, Raven and Piper, have also been identified as on the autism spectrum.
“The best way to describe autism is their brains are so open,” Casey says. “They are absorbing everything at once, it all comes flooding in. For me, it is like going to a food court and there is all this noise around you and you are trying to listen to everyone’s conversation at once.”
Up to the point Charlize was diagnosed, he says, “I hoped it was something else, but then you get over yourself and just get on with it. The big thing is accepting your children are going to be slightly different – once you get to that point you can move forward.
“Some people say it is a disability but it is really an ability. They never come home from school and say some kid has brand- new Nikes or that sort of stuff – they don’t care, they are not worried about the social pressures. All kids are different, but when you have autism thrown into the mix it takes a lot of perseverance and a lot of understanding. It’s a learning curve all the time, but we are really proud we have three lovely girls.”
Shane Mazlin was 30 when he was diagnosed with Asperger’s syndrome. Like many, his understanding of the condition was based on the vaguely defined “aspie” characters of popular culture: Sheldon Cooper in The Big Bang Theory, Bones in Bones, Jerry in Boston Legal. They were not a good fit.
“They are portrayed as extremely confident, unaware of the possibility they could be wrong. I’m the opposite – I always doubt myself,” Mazlin says.
Despite a prestigious, well-paid and well-supported job as a software programmer at Callaghan Innovation in Christchurch, his confidence is low. He fidgets with his coffee cup, he keeps a ready watch out the window. The upside, he says, is acumen in logical areas like science, maths and computer programming. The downside is in social areas. “I feel very self-conscious. Many people say Asperger’s is an advantage – it’s not an advantage.”
Broad spectrum, common symptoms
None of Amy, Charlize or Mazlin is typical of those on the autism spectrum. You would be hard-pressed to find anyone typical of a complex neuro-developmental condition that encompasses a high-needs non-verbal child at one extreme and a high-functioning computer programmer at the other.
Common to those across the autism spectrum are difficulties in social and emotional interaction, communication and language and flexible thinking – the so-called “triad of impairments”. Symptoms can include an apparent withdrawal from the world, repetitive behaviour, narrow interests and activities and an over- or under-sensitivity to sounds, tastes, smells or light. Those at the Asperger’s end of the spectrum may be of average or higher intelligence and have fewer problems with language, but still face difficulties in reading non-verbal signals, making it hard for them to navigate the social world.
The causes are still not clear but diagnoses are increasing. According to the US Centers for Disease Control and Prevention, the prevalence of childhood autism rose from 1 in 500 in 1995 to 1 in 68 in 2016. At the more recent prevalence rate, there could be 50,000-75,000 people in this country on the autistic spectrum.
Part of the increase is due to broadening diagnostic criteria. In 1943, when Austrian-born psychiatrist Leo Kanner coined the term “infantile autism” to diagnose children who were socially and emotionally withdrawn, with little to no speech, severe cognitive impairments and repetitive behaviour traits, the diagnosis applied to fewer than 1 in 2500 children. Nearly 40 years later, British psychiatrist Lorna Wing came across the 1944 doctoral thesis of another Austrian physician, Hans Asperger. Asperger’s definition of “autistic psychopathy” included those with well-developed speech, above-average intelligence and unusually narrow interests. Wing believed Kanner and Asperger were describing different aspects of the same “spectrum”. In 1994, the fourth edition of Diagnostic and Statistical Manual of Mental Disorders (DSM – IV) included Asperger’s syndrome on the milder end of the spectrum. The current version, DSM-V, has collapsed autism, Asperger’s and pervasive developmental disorder-not otherwise specified (PDD NOS) into a single diagnosis, autism spectrum disorder, or ASD.
As the classification for ASD broadened, redundant diagnoses, such as retardation, and common misdiagnoses, such as intellectual disability, were brought into its ambit. A 2015 report in the American Journal of Medical Genetics says the reclassification of diagnoses could account for 64% of the increase in autism rates from 2000 -2010.
The age of diagnosis has also fallen, from about six years to two to three years. And autism in girls, often overlooked as a result of their more internalised symptoms (they appear more social and are less likely to have meltdowns), is now being diagnosed at a greater rate.
In addition to changing terminologies and better screening, there are also reports of a straightforward increase in ASD. “If you ask people who run special schools if it’s increasing, they look at you as if you are demented,” says University of Auckland geneticist Russell Snell. “They say, of course it is increasing – even at the severe end, prevalence is going up.”
Genetic risk factors
Snell is part of Minds for Minds, a multidisciplinary research team investigating why a child developing reasonably well will, when aged about two to four, suddenly regress. Evidence suggests this could be the result of the brain over-developing – undergoing rapid neuronal growth without the “pruning” of neurons that normally occurs at this age.
The case for a genetic cause for this is growing: recent twin studies show if one identical twin is autistic, the other twin has an 80% chance of also being autistic. Often, if you dig around in the family, says Snell, “you will find [ASD] characteristics in an unaffected individual, but not to the extent it could be diagnosed”.
In 2016, Nature magazine reported the SHANK3 gene, responsible for a protein involved in neural communication, as missing or mutated in 1% of people with ASD. SHANK3 is now one of more than 100 genes identified by Snell’s team as a possible risk factor, in some cases working on their own, more commonly working in particular combinations.
Such discoveries may well pave the way for gene-editing technologies in the future – or better still, says Snell, identify links to other genetic conditions for which a treatment has already been developed.
“It is like a detective story where you piece these pieces of information together then wonder about the biochemistry underneath it. Then, maybe there is a therapy that comes out of that biochemistry that doesn’t involve targeting the gene, or genetic modification, but involves understanding how the genes function and what triggers them into action or lack of action.”
Even without pointing to a direct “cure”, he says, understanding the genetic cause gives families a sense of relief. “The mystery is no longer there and they can get on with other aspects of their lives.”
Although genetics undoubtedly play an important role, it is not the whole picture. There is some evidence having older parents, particularly an older father, may boost the risk of autism. Children born prematurely may also have an increased risk.
Minds for Minds microbiologist Mike Taylor is looking at the microbes that live in the gut and the workings of the whole “microbiome-gut-brain axis”.
“Children with autism have an increased incidence of gut issues, from severe diarrhoea to severe constipation and everything in between,” Taylor says. “If you don’t have the right balance of bacteria or the right bacteria in the gut, and you are predisposed to autism, that might be the trigger that sends you down that path.”
Cause and effect are hard to tease apart – an uncomfortable gut may amplify the anxiety experienced by some people with autism, or bacteria in the gut may affect brain function – but a 2017 study in Arizona found faecal microbiota transplantation (FMT), or stool transplant, was effective in reducing gut and behavioural problems in young people on the autism spectrum. The eight-week programme resulted in an 80% reduction of gastrointestinal symptoms and an overall improvement in ASD symptoms.
“But there is still no smoking gun – if you have this bacterium in your gut you will have autism,” Taylor says. “What we are seeing is more of a breakdown in the overall microbiome. What we want to find out is what a good microbiome is – and that is specific to each person – then manipulate the microbiome towards being better. At the moment we don’t know what ‘better’ means.”
As scientists try to unlock the causes of ASD, parents are left grappling with a diagnosis for which there are few explanations, fewer guide books and little understanding, especially for those with no visible coexisting disabilities.
“You can look at a kid with Down syndrome, or someone in a wheelchair, and you cut them some slack,” says Catherine Trezona, national manager of Altogether Autism. “You look at someone with autism and you think, that is the naughtiest kid and that parent is obviously a terrible parent. It can be very isolating for parents.”
It was for Lower Hutt mother and early childhood educator Cat Noakes-Duncan. When she refused to give her son Max (not his real name) her cellphone during her daughter’s gymnastic class, other parents looked on in silent disapproval as her autistic eight-year-old protested.
“People were judging and not seeing the strategy behind what I was doing,” she says. “They see a mother getting kicked and doing nothing about it, but I was keeping things at a manageable level before the behaviour turned from tantrum to meltdown.”
Noakes-Duncan has set up a local playgroup for children on the autism spectrum. “When you get a diagnosis, a parent’s first question is, ‘What now?’ The answer, is, you go on a waiting list and wait. And wait. Most parents want a place they can go with their kids – they don’t just want time out for themselves. They want a place where their kids are loved, with people who are familiar.”
Therapeutic support is available. Some parents access speech-language or occupational therapies. Others explore the bewildering array of biomedical treatments, including gluten- and dairy-free diets and vitamin and mineral supplements. Relationship development intervention, a US behaviour-modification programme, is gaining traction here, as is applied behaviour analysis, an intensive early intervention programme in which daily tasks are broken down into smaller, more manageable actions. Lynne Hansen takes her daughter to a private psychologist to help improve Amy’s “theory of mind” – the ability to understand and identify the thoughts, feelings and intentions of others.
But for Government-funded health and education support, says Autism New Zealand chief executive Dane Dougan, early diagnosis is vital. “The earlier you get a diagnosis, the earlier you get appropriate intervention. Before three years old is pretty key in getting this right.”
The gold standard for diagnosis outlined in the Ministry of Health’s autism spectrum disorder guideline is a multidisciplinary approach including a child psychologist, speech therapist and paediatrician, usually through a district health board’s child development centre. With the Government’s focus on early intervention, this is best done during early childhood, but waiting lists can be long, child development teams may be far away, and if you move region, you might be pushed back to the bottom of the list.
If a child is diagnosed after the age of five, funded services can be harder to access. For those on the autism spectrum, school can be difficult. A study by the UK’s National Autistic Society found a third of autistic children had been picked on and 17% had been suspended. One Auckland teacher aide recalls a child with ASD being punished for not sitting still on the mat: “It’s like telling someone with one leg to stand up straight.”
Hansen knows how to manage her daughter at home. She simplifies her instructions and speaks slowly, clearly and concisely. Before going out, she explains what is going to happen and what Amy will be required to do. “So she knows what her day looks like, she feels good about herself and I am not on tenterhooks. You try to manage it in a kind and respectful way.”
At school, as do many girls with ASD, Amy appears social, animated and able to manage in certain situations. She does not meet the criteria for a teacher aide but she can be misunderstood, especially when she breaks into a meltdown in a final, desperate call for help. Each year, Hansen gives Amy’s teachers a profile of her daughter’s needs and strategies to support her.
“Teachers are grateful but often they are overwhelmed. They say, ‘We haven’t got time’, but it doesn’t take two minutes. We are just asking [them] to understand and adapt a little bit.”
Vijaya Dharan, senior lecturer in specialist education at Massey University, is calling for more professional development for teachers, more training for support staff and more involvement of families. Although diagnosis is instrumental in getting funded services, she says, teachers should focus not on labels but on a child’s cognitive difficulties and abilities.
“If they are non-verbal, people think they have cognitive difficulties, but they can be extremely bright and still be non-verbal. Thanks to new, augmented technologies, we can tap into those cognitive abilities. There is no such thing as a cure, but surely we can work towards giving them the skills to manage themselves better.”
Even so-called high-functioning autistic children need support, she says. “At secondary school they can be loners, they lack those social skills and they can be bullied.”
Teachers also have a role in modelling to “neurotypical” children how to interact with those on the autism spectrum. Yes, there are times when children with ASD need some quiet time, but Dharan does not buy the idea they don’t want friends. “They do, they just don’t know how to do it. They don’t have the language, or they can’t understand the feelings of others, so you need to teach them to be social.”
Those who reach adulthood without a diagnosis, says Trezona, find it even harder to get adequate support. She describes undiagnosed school leavers with no clear pathway; boys in particular sitting at home playing video games with futures looking “incredibly bleak”.
For Mazlin, high school was not overly stressful. He passed tests easily and had a close group of friends. When social situations did feel uncomfortable, “I tried to play up the jokes – I didn’t want to be seen to be making attempts to fit in.” At university, however, without the security of his friends, his anxiety increased. Rather than drop out, he drifted into the seductive rabbit hole of online gaming, finding a social network in other countries, other time zones. He moved from course to course, tertiary institution to tertiary institution, clocking up more student debt. On his last application, his enrolment was made contingent on a counselling session. It was then he was diagnosed with anxiety and Asperger’s syndrome.
Both Autism New Zealand and Altogether Autism are now working with employers to help them harness the strengths of young adults who have high intelligence, high skill levels and high special interests “but just have that social awkwardness and communication differences that make fitting into the workplace difficult at the beginning”, Trezona says. IT and animal husbandry are well suited to those strengths. “You are identifying people who are good critical thinkers, good at spotting errors, content at doing repetitive work and good at data analysis, or who have a fantastic rapport with animals. Then you identify employers who appreciate that talent and give them both training – that is the ideal.”
But misconceptions still run deep. In 2015, University of Auckland maths professor Dimitri Leemans, who moved to New Zealand from Belgium with his wife and two children in 2011, had his residency application rejected because of his stepson’s autism. The family returned to Brussels. As Leemans told the Guardian, “We chose to move forward for the good of our family.”
Last year, former Australian television presenter Don Burke, of Burke’s Backyard fame, claimed he was “an Asperger’s person” as he defended charges of sexual harassment and bullying. Autism advocacy organisations and people with Asperger’s were outraged. “I have Asperger’s,” tweeted lauded comedian Hannah Gadsby. “I can assure you that I don’t need to make eye contact with #donburke to know he is bad humanity.”
In the meantime, understanding of ASD is also hampered by the sheer breadth of the spectrum. Historian Edith Sheffer at the University of California, mother of a 14-year-old son with Asperger’s and author of the groundbreaking Asperger’s Children, aligns ASD to the diagnosis of hysteria in the 19th and early-20th centuries. “Today, we would break that label up into anxiety, bipolar, syphilis, schizophrenia and epilepsy, but, at the time, science was not at a point to disaggregate those diagnoses. [With ASD] there is a hope that, in 15-20 years, it will be broken up into different sub-types or categories. Now, we just don’t have the vocabulary for describing these kids, and these kids can look vastly unlike each other.”
But the scale of the autism spectrum, suggests Mazlin, may be the very key to more acceptance of those with ASD.
“If it is a spectrum, it’s like a line with extremes and a middle which is normal. So technically, everyone is on the spectrum.”
This article was first published in the September 15, 2018 issue of the New Zealand Listener.