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Broad spectrum, common symptoms
None of Amy, Charlize or Mazlin is typical of autism. You would have a hard time finding anything typical of a complex neuro-developmental disorder encompassing a non-verbal child with high needs at one extreme and a computer programmer performing well at the other.
The difficulties associated with social and emotional interactions, communication and language, and the flexibility of thought – the so-called "triad of deficiencies" – are common to autism. Symptoms may include an apparent withdrawal from the world, repetitive behavior, narrow interests and activities, and excessive or insufficient sensitivity to sounds, tastes, odors, or light. Those at the end of the Asperger spectrum can be of medium or higher intelligence and have fewer language problems, but still have difficulty reading non-verbal cues, which prevents them from navigating the social world. .
The causes are still not clear but the diagnoses are increasing. According to the US Centers for Disease Control and Prevention, the prevalence of autism in children has increased from 1 in 500 in 1995 to 1 in 2016. At the most recent prevalence rate, there could be 50,000 to 75,000 autistic people in this country. spectrum.
Part of the increase is due to the broadening of the diagnostic criteria. In 1943, when the Austrian-born psychiatrist Leo Kanner coined the term "infantile autism" to diagnose socially and emotionally withdrawn children, with little or no speech, severe cognitive impairment and repetitive behaviors, the diagnosis of Children Nearly 40 years later, British psychiatrist Lorna Wing discovered 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 exceptionally narrow interests. Wing felt that Kanner and Asperger described different aspects of the same "spectrum". In 1994, the fourth edition of Diagnostic and Statistical Manual of Mental Disorders (DSM – IV) included Asperger syndrome in the lower part of the spectrum. The current version, DSM-V, collapsed autism, Asperger's syndrome and pervasive developmental disorder – without indication to the contrary (NOS PDD), in a single diagnosis, autism spectrum disorder or ASD.
As the classification of ASDs is broadened, redundant diagnoses, such as delay and common misdiagnosis, such as intellectual disability, have been integrated. A 2015 report in the American Journal of Medical Genetics says that the reclassification of diagnoses could represent 64% of the increase in autism rates between 2000 and 2010.
The age of diagnosis has also decreased from about six years to two or three years. And autism among girls, often neglected because of their more internalized symptoms (they seem more social and have fewer risks of having seizures), is now diagnosed at a higher rate.
In addition to the evolution of terminology and improved screening, there is also a simple increase in ASD. "If you ask people who run special schools to increase, they will look at you like crazy," says University of Auckland geneticist Russell Snell. "They say, of course that increases – even in severe cases, the prevalence increases."
Genetic risk factors
Snell is part of Minds for Minds, a multidisciplinary research team that is investigating why a child who develops reasonably well will regress suddenly at the age of two or four. Evidence suggests that this could be the result of excessive development of the brain – undergoing rapid neuronal growth without the "size" of neurons that normally occurs at that age.
The arguments in favor of a genetic cause in this regard are becoming more numerous: recent twin studies show that if an identical twin is autistic, the other has an 80% chance of being autistic . Often, if you search the family, Snell says, "you'll find [ASD] characteristics in an unaffected individual, but not to the extent that he could be diagnosed. "
In 2016, Nature The magazine reported that the SHANK3 gene, responsible for a protein involved in neural communication, had disappeared or had been mutated in 1% of people with ASD. SHANK3 is now one of more than 100 genes identified by the Snell team as a possible risk factor, working in some cases autonomously, working more often in particular combinations.
Such discoveries may well pave the way for the future of gene editing technologies – or even better, says Snell, to identify links with other genetic diseases for which treatment has already been developed.
"It's like a detective story where you gather this information and then ask yourself about the underlying biochemistry. Then, perhaps there is a therapy from this biochemistry that does not involve targeting the gene or genetic modification, but involves understanding how the genes work and what triggers them in action or lack of 'action.
Even without indicating a direct "cure," he says, understanding the genetic cause gives families a sense of relief. "The mystery is no longer there and they can live in other aspects of their lives."
Intimate interest
Although genetics undoubtedly plays an important role, that's not all. There is evidence that older parents, especially an older father, could increase the risk of autism. Children born prematurely may also have an increased risk.
The microbiologist at Minds for Minds, Mike Taylor, is examining microbes living in the gut and running the entire "microbiome-intestine-brain axis".
"Autistic children have an increased incidence of intestinal problems, ranging from severe diarrhea to severe constipation, among others," says Taylor. "If you do not have the right balance of bacteria or good bacteria in the gut, and you are predisposed to autism, that could be the trigger that will take you down that path."
The cause and effect are difficult to dissociate – an uncomfortable bowel can amplify the anxiety felt by some autistic people or intestinal bacteria can affect brain function – but a study conducted in Arizona in 2017 revealed a Fecal microbiota transplantation, has been effective in reducing bowel problems and behavior in autism spectrum youth. The eight-week program resulted in an 80% reduction in gastrointestinal symptoms and a general improvement in ASD symptoms.
"But there's still no smoking gun – if you have this bacteria in your gut, you'll have autism," Taylor says. "What we're seeing is more a break in the overall microbiome. What we want to know is that it's a good microbiome – and this is specific to each person – and then manipulate the microbiome for it to be better. For now, we do not know what "better" means.
While scientists are trying to identify the causes of ASD, parents struggle with a diagnosis for which there are few explanations, fewer guides, and little understanding, especially for those with no visible disabilities. coexistent.
"You can look at a child with Down's Syndrome or a person in a wheelchair and give him some slack," said Catherine Trezona, National Director of Altogether Autism. "You look at someone with autism and you think he's the ugliest kid and that parent is obviously a terrible parent." This can be very isolating for parents.
This was for Lower Hutt's mother and early childhood educator, Cat Noakes-Duncan. When she refused to give her mobile phone to her son Max (his real name) during his daughter's gym class, other parents watched with silent disapproval while his eight-year-old autistic daughter protested.
"People judged and did not see the strategy behind what I was doing," she says. "They saw a mother get kicked and do nothing, but I kept things at a reasonable level before the behavior went from crisis to collapse."
Noakes-Duncan has set up a local play group for children with autism. "When you get a diagnosis, a parent's first question is," What now? ". The answer is that you go on a waiting list and wait. And wait. Most parents want a place where they can go with their children – they do not just want time for themselves. They want a place where their children are loved, with familiar people.
A therapeutic support is available. Some parents have access to orthophonic or occupational therapies. Others explore the bewildering array of biomedical treatments, including gluten-free diets and dairy-free diets, as well as vitamin and mineral supplements. The relationship development intervention, an American program of behavior modification, is gaining ground, as is applied behavior analysis, an intensive early intervention program in which daily tasks are broken down into smaller, easier actions. manage. 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.
Dane Dougan, CEO of Autism New Zealand, believes that early diagnosis is essential. "The sooner you receive a diagnosis, the sooner you receive an appropriate intervention. Before three years, the key is the right one. "
The diagnostic reference standard described in the Ministry of Health's guidelines for Autism Spectrum Disorders is a multidisciplinary approach that includes a child psychologist, speech therapist and pediatrician, usually through a health center. By focusing on early intervention, it's best to do it in early childhood, but waiting lists can be long, child development teams may be distant and if you move, you may come back to the bottom of the list.
Glove of Education
If a child is diagnosed after the age of five, access to funded services may be more difficult. For those on the autism spectrum, school can be difficult. A study by the UK National Autistic Society found that one-third of children with autism had been targeted and 17% had been suspended. A Auckland teacher's assistant remembers a child with ASD who was punished for not sitting still on the carpet: "It's like telling a person with one leg to stand up straight."
Hansen knows how to manage his daughter at home. She simplifies her instructions and speaks slowly, clearly and concisely. Before going out, she explains what will happen and what Amy will do. "So she knows what her day is like, she feels good about herself and I'm not on hot coals. You try to manage it in a kind and respectful way. "
At school, as many girls with ASD do, Amy appears social, lively and able to cope in some situations. It does not meet the criteria for a teacher's aide, but it can be misunderstood, especially when it collapses in a last desperate call for help. Each year, Hansen provides Amy's teachers with a profile of her daughter's needs and strategies to support her.
"Teachers are thankful but often they are overwhelmed. They say, "We do not have time," but it does not take two minutes. We just ask [them] to understand and adapt a little.
Vijaya Dharan, a senior lecturer in special education at Massey University, is calling for more professional development for teachers, more training for support staff and more involvement of families. Although diagnosis plays a vital role in obtaining funded services, teachers should focus not on the labels but on the child's cognitive difficulties and abilities.
"If they are nonverbal, people think that they have cognitive difficulties, but they can be extremely bright and nonverbal. Thanks to new augmented technologies, we can exploit these cognitive abilities. There is no cure, but we can surely work to give them the necessary skills to better manage themselves. "
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