Living with Autism

Aoife was 24 when she was diagnosed with the Asperger’s syndrome. She had struggled to fit in with her social environment without understanding why. With the diagnosis, the pieces of the jigsaw suddenly came together for her. For the first time, she could embrace her identity fully.

Asperger’s syndrome is among the group of developmental disorders collectively called as ‘Autism Spectrum Disorders’. On one end of this spectrum is the classic autism that involves social difficulties, repetitive behaviour, language, communication and general developmental delays and a high risk of mental retardation. Other syndromes on the spectrum, such as the Asperger’s, do not involve mental retardation, but varying degrees of social interaction/communication issues and intellectual problems.

Today, autism spectrum disorders have become a growing fear among parents as more and more kids are diagnosed. Autism spectrum disorders affect around 1 in 160 children worldwide.1

Remember the 1988 movie Rain Man? Dustin Hoffman’s amazingly well portrayed Raymond, who had severe social communication problems and extreme repetitive behaviour, drew a stereotypical picture of autism in the minds of many of us. Well, Aoife is nowhere near that stereotype. She is easy to interact with, talkative, and friendly. She is also very successful academically. When she talked about the social problems she’s been experiencing, I actually thought I or anyone else in that matter would face similar issues:

I experience mild social anxiety and awkwardness in certain situations (such as speaking on the phone, bothering salespeople to ask questions etc.), but generally just push through these difficulties. … I sometimes suffer from ‘mind blindness’ where I don’t see the impact of my behaviours and words in the moment. This can often give people the wrong impression of me causing further social drama. … I do struggle to empathise at times, but often this stems from being unsure as to the correct social response. I can see you’re upset, I want to hug you and make it all go away, but I never know if holding your hand, hugging you or touching your arm will be met favourably or interpreted as intended, and so to avoid an awkward situation I usually stay silent. … I’m a literal black and white thinker- I don’t always get jokes. Sarcasm, like Sheldon Cooper, used to go over my head. If given instructions I will do literally that- reading between the lines can escape me.

When she started struggling to fit in her first work environment, her mother, who was already suspecting her condition, convinced her to see a psychologist. During the session, she was asked a very specific set of questions and in the end was told that she scored high on an assessment test for the Asperger’s syndrome. The result was a shock for Aoife:

At the time the diagnosis came as a huge blow. It didn’t change anything about me, just explained me, but yet I still felt stigmatized as I came to terms with the news. It took me some time to get past the word ‘autism’ in my mind as I did not identify with the stereotyped imagery. But little by little I came to terms with it and learned to embrace my difference.

The diagnosis of ASD is currently based on a list of criteria that appear in the 2013 version of the Diagnostic and Statistical Manual of Mental Disorders (DSM–5) of the American Psychiatric Association.2 There are two main groups of criteria in ASD diagnosis. The first group includes persistent problems in social communication and interaction across multiple social contexts. Some symptoms in this group are failure of normal back-and-forth conversation, inability to initiate or respond to social interactions, abnormalities in making eye contact and difficulties in sharing imaginative play or in making friends. The second group includes restricted, repetitive patterns of behavior, interests, or activities. Behaviours such as extreme attachment to an unusual object, extreme distress with small environmental changes, apparent indifference or excessive reaction to sensory inputs like light, temperature, smells or textures are included as symptoms in this group.

To be diagnosed with ASD, the individual (including children) has to exhibit multiple symptoms from the list and these symptoms need to cause severe impairment in social, occupational or other areas of life. The symptoms should also be present before the age of 3, though, in some cases, they may not manifest fully until demands from the environment exceed the social capacity of the individual. Based on these criteria, the severity of the diagnosis is determined at three levels: (1) requires support, (2) requires substantial support, and (3) requires very substantial support. The individual receives support accordingly.

What is ASD in terms of its biological basis?

ASD is a neurodevelopmental disorder which means something does not go quite as normally during the development of the nervous system. Environmental factors also play a role in the manifestation of the symptoms. Several regions of the brain can be affected in individuals with ASD. For instance, the number or organisation of nerve cells in these regions can be different in individuals with the disorder from that in individuals without. Exactly what causes these differences, however, is unclear.

ASD is also a highly heritable disorder. Therefore, researchers have been looking into the genome to find potential underlying reasons.

In a recent study, researchers at Harvard Medical School focused on the ‘sensory nerves’ that enable us to feel touch, pressure, vibration, the position of our organs relative to one another, heat, cold, and pain.3 They developed mouse models where they disrupted the activity of two genes, called Mecp2 and Gabrb3, specifically in these sensory nerves. These genes are crucial to the normal functioning of nerve cells in general and were previously identified as altered in individuals with ASD who showed extreme sensitivity to gentle touch. The mice were fine in terms of their physical features such as the body weight, length of legs and brain size as well as in their motor abilities. On the other hand, the results of the behaviour tests were striking: as opposed to ‘control mice’ with the normal version of these two genes, the mice with the disrupted genes; (1) did not want to explore an object with a novel texture, (2) reacted stronger in a test that measured their response to a touch stimulus, (3) were anxious to explore large open spaces, and (4) were less inclined to get to know an unfamiliar mouse, meaning they could not interact socially. All of these abnormal behaviours are similar to some of the symptoms seen in individuals with ASD.

These findings establish a link between physical senses and psychological and social behaviour. Individuals with ASD have a genetic background that renders them psychologically more sensitive to everyday sensory experiences. This study is also important to realise that ASD studies should not be restricted to regions or nerves of the brain because the sensory nerves the authors looked at are located elsewhere in the body.

The genes in the above study are just two examples of more than 500 genes that researchers have identified as linked to ASD. Some of these genes play a role in the normal development or functioning of our nerve cells, some are important for the communication mechanism between our nerve cells, while others are involved in more general developmental processes. So ASD is a complex disorder: it is not caused by a single gene, but by multiple groups of genes that have a large range of functions.

We all carry these genes. Moreover, the variants of these genes (see below for a description of a gene variant) that are linked to ASD can also be present in the general population.

You may now wonder whether these gene variants affect the individuals in the general population who have not been diagnosed with ASD or a similar disorder?

A team of international researchers collaborated to address this question. They analysed six large-scale datasets with more than 38000 participants with or without ASD to look at the relationship between some of the common (as well as rare) ASD-linked common gene variants and social behaviour.4 They found that 1/3 of these variants and mutations influence social communication behaviour in individuals without an ASD diagnosis.

This means we all carry the genetic risk factors for ASD, and perhaps, this is the reason why each of us has a different way of interacting socially. And perhaps, this why I thought anyone could face the social difficulties that Aoife has been experiencing. Yet, it is too early to make any definite conclusions and the authors are careful with interpretation of their findings:

“We are certainly not saying that all social communication variation in the population is because of genetic risk for ASD,” Dr Elise Robinson, from Harvard University and a lead author on the paper, told the Guardian.5

Nevertheless, this study suggests that there are no clear boundaries on the ‘spectrum’ and everyone may well be located somewhere on it. The fact that more and more children and adults are diagnosed with ASD since the diagnostic criteria have been improved supports this hypothesis. We could think of autism as a natural human variation rather than an isolated case. Indeed, the ASD community asks for a change in the perception of the disorder by the public: ASD should not be seen as a stereotypical disease to be ‘cured’ but a condition that can be nurtured in the right environment.

Aoife’s parents have provided this environment for her and today, she uses their example to give advice to the parents out there whose children have been diagnosed with ASD:

The best advice I could give is to not let autism define their child. Growing up, my parents always pushed me to reach my potential. They never let me give up, never told me I wasn’t able for something, and it was one of the best things they could have done for me. When I found things frustrating, when I said I couldn’t do something, my parents always told me not to be daft and to keep going! … The best course of action is to embrace this gift, to focus on everything that this roll of the genetic dice has given you- focusing on the negatives will do more harm than good.

This is some advice we should all keep in mind.

Betul

 

To see another example of how the right environment unleashes the potential in autistic individuals, visit Dr. Temple Grandin’s official autism website or watch 2010 movie Temple Grandin.

To learn more about the Autism Community you can visit the Irish Society for Autism, Autism Europe, Autism Society, USA and in Turkey, Otizm Dernekleri Federasyonu.

If you would like to bring forward another official Autism Community or provide other resources on Autism that you think are useful please share the links in the comments section below. Many thanks in advance!

 

Gene variants are alternative forms of a gene as found in the human population. The building blocks of genes are molecules called the nucleotides. There are four types of nucleotides which join together in varying sequences and lengths to make up distinct genes. In a human population, a gene may have alternative forms because (1) one of these nucleotides in the sequence is different in groups of individuals or (2) there is an undesired, erroneous change in the sequence (also called a mutation). The outcomes of these differences in gene sequence may or may not be negative, depending on where in the genome or within the gene they occur.

For example, blood types are determined by the variants of the ABO gene while sickle-cell anemia is caused by a variant of the β-globin gene.

 

References

Donovan, A.P.A. and Basson, A. (2016) The neuroanatomy of autism – a developmental perspective. Journal of Anatomy, 12. Pubmed ID 27620360

1 The prevalence rate of Autism Spectrum Disorders retrieved from the World Health Organisation website on ASD http://www.who.int/mediacentre/factsheets/autism-spectrum-disorders/en/

2 Autism Spectrum Disorder diagnostic criteria retrieved from https://www.autismspeaks.org/what-autism/diagnosis/dsm-5-diagnostic-criteria AND http://www.autismeurope.org/about-autism/diagnosic-criteria/dsm-5-diagnostic-criteria-for-autism.html

3 Orefice, L.L. et al. (2016) Peripheral Mechanosensory Neuron Dysfunction Underlies Tactile and Behavioral Deficits in Mouse Models of ASDs. Cell, 14(66). Pubmed ID 27293187

4 Robinson, E. et al. (2016) Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population. Nature Genetics, 48(5). Pubmed ID 26998691

5 Science news article by Nicola Davis retrieved from https://www.theguardian.com/science/2016/mar/21/autism-spectrum-has-no-clear-cut-off-point-research-suggests-nature-genetics

 

 

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