Autism And Aetiology

The purpose of this assignment is to outline the history, aetiology and prevalence of Autistic Spectrum Disorder (ASD). Moreover, it will critically examine current legislation, cognitive and affective theories and will ultimately demonstrate the utility of such theory being put into practice in the writer’s given field of work. For the purpose of this assignment the words Autism and ASD will be used interchangeably and any names used will be pseudonyms.

The field of Autism has developed significantly over the past few years and there has been much research since its discovery over 60 years ago (Wolff 2004). Nevertheless, it is actually still in its infancy and there is a long way to go towards fully understanding the condition known as
Autism, which to a great extent remains very much a mystery. As more children are diagnosed with Autism and with an augmented interest and awareness from professionals working within the field, this has ultimately led to a greater demand for information and knowledge, not only from professionals but also from parents and individuals affected by Autistic Spectrum Disorder (ASD) (Zager 2005).

ASD affects the way a person communicates and limits their ability to relate to others in a meaningful way; it is a lifelong developmental disorder that emerges in early childhood. It varies from person to person and many of the features will change with age and maturity (Bergman 2005). It is identified by three distinguishing primary impairments in language, social skills and behavioural flexibility, which are referred to as the Triad of Impairments (Cashin & Barker 2009). Additionally, the primary characteristics that define ASD are often compounded by a learning disability and associated features such as self-injury and/or aggression, repetitive traits, unusual sensory responses, abnormalities in eating, drinking or sleeping and a compelling need for routine (Bergman 2005). It is also often present in conjunction with a co morbid mental health condition such as depression or an anxiety disorder.

Autism is only one element of a wider spectrum of disorders of varying type and severity which includes Asperger’s Syndrome and Atypical Autism. Although there is strong evidence that ASD is present from birth, it is generally not diagnosed until after two years of age (Kishore and Basu 2010).

An increase in awareness and incidence of ASD has raised such concern that it has now reached the political agenda. The Scottish Executive published their report “The same as you” (2000) which reviewed services for people with learning disabilities. One of the recommendations of the report was to ensure that the interests of children and young people with learning disabilities and autism spectrum disorder were addressed.

The Scottish Government subsequently commissioned the Public Health Institute of Scotland to carry out a Needs Assessment Report on services for people with ASD. The report was published in 2001 making thirty two recommendations to ensure services were meeting the needs of those accessing them. One of the main recommendations was that the Scottish Intercollegiate Guideline Network (SIGN) should develop evidence based clinical practice guidelines on ASD. SIGN Guideline 98 was published in 2007 providing an evidenced based guideline for use by clinicians to inform their assessment process. There is no doubt they have made a significant impact on clinical practice in Scotland (Scottish Government 2010 McClure and Le Couteur 2007).

More recently they committed to continuing to strive to improve the lives of people affected by ASD and as such have developed a draft Scottish Autism Strategy “Towards an Autism Strategy for Scotland” (Scottish Government 2010). The draft sets out what the government in conjunction with service users, carers and professionals proposes to do to meet the needs of people with ASD in response to the growing phenomenon that is Autism. It recognises that whilst there have been considerable advances in Scotland, much still needs to be done to meet the needs of people with ASD and their carers.

Education is a key component and has a major impact on the lives of ASD sufferers and their parents. The Government acknowledged the need for parental consultation regarding the educational needs of their child with the introduction of their Education Additional Support for Learning Scotland Act (2004).

The bill aimed to offer support to children suffering hardship; which may be long-term support for disabilities or short term due to exceptional circumstances including bereavement or physical illness. It was reviewed in 2009 with the amended Act coming into force in November 2010.

The term Autism is fairly new to the world of medicine and science: however, Autism itself is not a new condition. It didn't suddenly appear in humans in 1943 following the publication of Leo Kanner’s paper “Autistic disturbances of affective content” (cited in O’Brien and Daggett 2006). Williams (1996) concurs suggesting that reference to ASD has been made in fairytales and ancient folklore and in old stories of “feral children”.

The first use of the word “Autistic” which is derived it from the Greek word autos (meaning self), was in 1912 in the American Journal of Insanity (O’Brien and Daggett 2006). Eugen Bleuler, a Swiss psychiatrist used the term to describe a group of symptoms of schizophrenia, where he characterised his group of adult patients as being self obsessed (Ritvo2006). However, the term became widespread in 1943 with the publication of Kanner’s paper. Kanner recognised a pattern of symptoms in his sample of eleven children and used the term Autism to describe their withdrawn behavior, suggesting that the children were trying to escape from reality. He acknowledged that these children were not typically mentally retarded or suffering from a psychiatric disorder but demonstrated intriguing traits and for this he used the term Early Infantile Autism (O’Brien and Daggett 2006). Just one year later Hans Asperger, an Austrian doctor published his paper, which had striking similarities to Kanner’s research (Happe 1994). Although his work was published, it was not fully appreciated until Lorna Wing translated it into English in 1981.

It wasn’t until the 1960’s that researchers began to have an understanding of Autism in children. However, treatment at this stage remained very much medically based with the emphasis greatly on cure of the “disease”. Treatments were very much bio chemically based with medications such as LSD: electric shock treatment was also widely used. During the 1980’s and 1990’s there was an increased awareness from health, education and indeed the general public, leading to a recognition that although there is always a place for medication, the way forward was with cognitive and behavioural techniques such as intensive early intervention (Wolff 2004).

If we go back thirty years, the prevalence of Autism was decidedly less (4:10,000), as opposed to today where it is closer to 1:100 (Baron-Cohen 2008). There are several theories as to why the incidence has risen; Harrison et al, (2006) suggest that the rise could be due to better diagnostic expertise. Waterhouse (2008) concurs with this suggestion, signifying that an increased awareness and services and changes to the diagnostic criteria have all had an influence in prevalence. Baron-Cohen (2008) also recognises that as Autism is on a spectrum, “shades” of Autism or mild cases of Autism are now being included in prevalence numbers, where they may previously have been excluded.

There are many debates as to the cause of Autism: it is however, generally accepted that there is no single unit cause but rather, a series of behaviours with multiple causes and neurological processes have been identified (Rutter 2005).
However, certain hypothesis or theories which have been purported to be causative, have proved to be highly controversial, with parents often wondering if they were in someway to blame (Happe 1994). The thought process behind ‘Refrigerator Mothers’ theory was that their children had autism because of the mother’s frigidity. They were supposedly "cold" towards their child and didn't interact, play with them or show affection (Szatmari 2003). This was first noted by Leo Kanner in his paper “Autistic disturbances of affective content” (cited in O’Brien and Daggett 2006). Kanner noted a “genuine lack of maternal warmth”. Szatmari (2003) suggests that Kanner overlooked the fact that the children in his study had siblings that were unaffected by the same parents affection or lack of
it.

The theory continued to gain credibility during the 1950’s and 1960’s particularly due to Bruno Bettleheim’s articles which continued to promote this theory. Despite the theory being utterly discredited it continues to place a terrible burden on mothers already devastated by their child’s condition (Happe 1994).

According to Hallmayer et al, (2002), Betancur, Leboyer and Gillberg (2002), Greenberg et al, (2001) and Szatmari et al, (1998) it has to be acknowledged that genetics have a key role to play: there is consistent evidence from twin and family studies to support this. However, as yet, no specific gene has been identified. Research into the role of genetics in ASD is undoubtedly expanding rapidly (Gupta and State 2007).

We could not mention causes without giving consideration to a hypothetical link with vaccines: in particular the Measles, Mumps and Rubella vaccine (MMR). It has been argued that the MMR vaccine causes intestinal problems leading to the development of autism. The controversy was due to the publication of Dr Andrew Wakefield’s study in 1998. This work has since been discredited with suggestions that there was a monitory incentive behind it (Dear 2011). Despite this theory being strongly refuted by the medical fraternity, there remains a minority of parents and researchers who continue to pursue this link (Fombonne and Chakrabarti 2001).

Auyeung et al (2009) raise the question of a hormonal link, as Autism overwhelmingly affects more males than females, by 4:1. Klin (2009) suggests that this theory is supported by research into exposure of too much testosterone in utero which results in a masculine mind body. The findings come from an eight-year study relating to the development of 253 children according to levels of testosterone they were exposed to in the womb.

As demonstrated, the struggle to understand ASD is ongoing, but researchers and clinicians recognise that there is a cognitive process that may play a part. As such, one of the major goals of the research conducted over the past thirty or so years was to achieve a better understanding of these cognitive processes. Consequently, various cognitive theories have been developed (Burnette et al 2005).

There have been many theories put forward to explain ASD: however, there are three main cognitive theories popular with today’s researchers. They attempt to explain the social and non-social characteristics of ASD, namely: Theory of Mind; Executive Function and Central Coherence.

Cognitive ability relates to how a person processes information influencing thinking, reasoning, remembering and imagining (Janzen 2003). Baron-Cohen (1989) proports that the ability to understand the thoughts and feelings of others is crucial in appreciating the social world in which we live. He further suggests that development of social cognition is fundamental to Autism and thus we have the Theory of Mind hypothesis.

Burnette et al (2005) suggest that Theory of Mind (ToM) is perhaps the most well known of the cognitive theories. It can be explained as an ability to mind read, in other words being able to comprehend other people’s thoughts, beliefs and intentions, whilst recognising and understanding that others will have differing thoughts, beliefs and intentions to oneself. Baron-Cohen (1989) suggests that these intentions are inferred, which requires a complex cognitive process. The Sally Anne test is a well known false belief test often used when assessing ToM: it focuses on the autistic child’s inability to put themselves in the mind of another. They could not consider that Sally could believe something that wasn’t true (Baron-Cohen 2008). He suggests that children with Autism suffer from “mindblindness”, that they are blind to another’s mental state.

The strength of the theory-of-mind hypothesis is that it is well placed to explain many of the behavioural symptoms of autism; however, people with autism also show distinctive strengths in certain areas that the theory-of-mind account cannot readily explain (Baron-Cohen 2008).

Executive function refers to high-level abilities that influence more fundamental skills such as planning, attention, memory and motor skills. It is an essential skill necessary to facilitate daily living in an ever changing, unpredictable world, allowing us to adapt to unexpected situations and ultimately manage stressful situations. This theory provides an insight into the restricted and repetitive behaviours, as well as some of the practical difficulties and challenges often exhibited in children with ASD (Pennington, et al 1997). Baron-Cohen (2008) elucidates that executive dysfunction is often observed in patients who have acquired damage to the prefrontal brain area and suggests that although there has been no brain damage in Autism, there is perhaps an immaturity in the prefrontal brain area of those affected by ASD. He also suggests that executive dysfunction occurs in a large number of clinical disorders: thus is not exclusive to autism.

One of the more widely known and accepted theories is the weak central coherence theory (Firth 2003). Uta Firth undoubtedly advanced this theory, surmising that autistic people typically think about things in the smallest possible parts. Her hypothesis is that children with autism actually perceive details better than non autistic people, but that "they cannot see the wood for the trees" (Firth 2003).

Happe and Firth (2006) and Happe and Booth (2008) suggest that current thoughts around Central Coherence therory propose that there is a range of cognitive styles within the general population: from strong coherence where there is a tendency to miss details while you concentrate on the meaning; to weak coherence where you tend to focus only on the detail whilst missing the meaning.

Happe and Firth (2006) suggest that weak coherence lies at the root of ASD symptoms including the need for routine and sameness, paying particular attention to parts of objects and obsessional preoccupations.

Happe and Firth (2006) also recognise a failure to use context in reading, for example: “I will lead the way” and “it was like carrying lead”, although the word is spelt the same it has different meaning. Individuals without ASD can put these sentences in context, whereas those with ASD would have difficulty in differentiating. Jarrold and Russell (1997) concur, stating that when central coherence skills are measured with perceptual or verbal-semantic tasks, the results undoubtedly reveal that autistic individuals have a tendency for fragmented perception.

Moreover, Baron-Cohen (2008) questions if the Central Coherence theory could explain the existence of special skills (Savant syndrome) where people with ASD have one or more areas of expertise, ability, or brilliance that is in contrast with their overall limitations, perhaps due to a bias towards detail-focused processing (Baron-Cohen 2004).

There are various tests used to measure central coherence such as the Embedded Figures Test where you have to find common geometric shapes in a larger design and Block design Task where you are required to take blocks that have different designs and arrange them according to a pattern (Loth, Gomez & Happe 2008). Shah and Firth (1983) demonstrated that children with ASD were quicker at picking out hidden figures in the Embedded Figures Test than the children in the control group and also suggest that children with Autism performed above their mental age.

Booth and Happe (2010) imply that there is currently no consensus regarding the validity of the weak central coherence theory. Conversely, Jarrold et al (2000), Burnette et al (2005), Levy (2007) and Loth, Gomez and Happe (2008) state unequivocally , that children and adults with ASD display weak central coherence. Baron-Cohen (2008) also questions the strength of this theory and suggests that for it to demonstrate utility, it requires to be used in conjunction with one of the neurological theories.

It must be acknowleged that theories are exactly that, only theories: which ultimately can and indeed, should be challenged and may be wrong: as demonstrated previously with the ‘Refrigerator Mother’s’ theory which has long been discredited (Szatmari 2003).

As universal service providers, Health Visitors are often the first point of contact for parents concerned about their child’s development or lack of speech. In relation to the children I work with (mainly pre 5), I can best associate with Central Coherence Theory, as parents often present with concerns about their child’s odd obsessional behaviors.

Weak Central Coherence explains the child’s inability to see the bigger picture and their need for routines and an acute attention to detail.
Paul is three and a half and has an obsession with keys which has seen him start his father’s car and allowed him to escape from the house while everyone slept. Colin is seven and insists on the Velcro on his shoes being fastened nine times before he will leave the house, it can’t be eight or ten, if they are accidentally fastened ten times he will take them off and the process begins again. Michael at three has an obsession with wheels, he has no interest with the cars he is given but could spend all day just spinning the wheels. Aidan is four and when drawing a face gives it only a mouth, no eyes and no nose. Having an increased understanding of the cognitive theories enables me to explain to parents why their children might be behaving in this manner and undoubtedly gives them better insight into their child’s behaviour.

Over the past two years, my own awareness of ASD has grown greatly and as a result I became aware of the lack of peer support in my practice area. As a direct result of this I set up a parent support group “Little STARS” which has now been running for over a
year.

The criteria for the diagnosis of Autism have been agreed internationally, through the publication of the International Classification of Disease version 10(ICD 10) issued by the World Health Organisation (WHO 2007) and the Diagnostic and Statistical Manual of Mental Disorders 4th edition (DSM-IV).They have similar symptom criteria for diagnosis, based on the triad of impairments: social development; communication skills and restricted range of activities or interests/ repetitive behaviors.

Hodge (2005) argues that diagnosis can, in fact be counter productive for parents as they become focused on a condition rather than their child. In my practice I have experienced this and often highlight to, and reassure parents that their child hasn’t changed overnight, that they are still the same child they were without the ‘label’ of Autism. However, undoubtedly, early diagnosis is paramount to early intervention Gabovitch and Wiseman (2005), Ritvo (2006),Baron-Cohen (2008)). Indeed diagnosis is often the start of the magical mystery tour that is ASD; parents grieve not for their child, but for the hopes and aspirations they had for that child and they can certainly become frustrated by the ongoing demands placed on them by their child (O’Brien and Daggett 2006).

In conclusion, there is a vast support network for parents: central to this is the Health Visitor, who provides continual support to families. It has to be hoped that as political awareness increases regarding Autism, there will be a continued enhancement of service provision and support for families, which can only improve the lives of those affected by this debilitating condition. Undoubtedly Autism is a developmental disorder, which will continue to captivate researchers, challenge the clinicians working in this field and ultimately continue to distress those affected by it. The debate on the increase in prevalence will no doubt continue; is the increase due to an environmental toxin, can it be attributed to diagnostic criteria and better education or is it due to the inclusion of milder cases of autism in the spectrum (Baron-Cohen 2008). Evidently, the field of ASD and ASD research has greatly expanded over the past three decades and indeed continues to expand at a significant rate.

As the battle to understand Autism has intensified, there has been greater emphasis placed on the need to explain the particular cognitive impairments that categorise ASD. However, while it is recognised that the cognitive theories all have a position in rationalising ASD, they cannot be viewed in isolation and would perhaps be more effective when considered as a blending of theories. Indeed one theory does not fit all!