**Meet the editors**

Professor Michael Fitzgerald was the first Professor of Child and Adolescent Psychiatry in Ireland, specialising in Autism Spectrum Disorders. He trained at the Chicago Medical School, the Maudsley Hospital, London, Kings College Hospital London and the National Hospital for Nervous Diseases, London. He has a Doctorate in Autism. He has a large number of peer-reviewed publi-

cations and thirty books written, co-written or co-edited, including Japanese and Polish translations of some books. Professor Simon Baron-Cohen of the University of Cambridge described one of his books on Autism as "the best book I have read on Autism". He also described him as an "exceptional scholar". He has diagnosed just under 4,000 persons with Autism Spectrum Disorder since 1973. He has lectured extensively throughout the world including The Royal Society/British Academy, The British Library in London and also in New York, Buenos Aires, Tbilisi, Melbourne and many European countries as well as China, Malaysia and Hawaii.

Jane Yip obtained her PhD from the University of Newcastle, Australia, specializing in neuropharmacology. She completed her post-doctoral training at Eli Lilly and Company, Indianapolis, USA. Her research is on the brain circuit that underlies neurological disorders including autism, schizophrenia, and depression. She has published in peer-review journals. Although trained

in drug development, she emphasizes the application of the science of behavior to treat mental disorders, and uses natural environment modification as a treatment modality. She pioneered the use of portable brain imaging to guide behavior treatment in autism. She has a practice that offers brain mapping. The practice also treats patients with autism using applied behavior analysis (ABA). She is the director of a clinical center for the treatment of autism, Autism Parent Care. As a member of ABA international, multicultural alliance, and an NGO member of United Nations, she works on outreach projects in Asia to advance the Universal Declaration of Human Rights Bill aiming to promote better recognition of individuals with mental disabilities, including autism. Her overarching aim to is advance treatment intervention for autism.

## Contents

#### **Preface XIII**

#### **Section 2 Correlates of Autism Disorder 27**

#### **Section 3 Impact of Autism 85**

Chapter 7 **Family Quality of Life in Autism Spectrum Disorders (ASD) 87** Elena Predescu and Roxana Şipoş

#### **Section 4 Neurobiology, Genetics and Autism 113**

Contents **VII**

## Foreword

**Section 3 Impact of Autism 85**

**VI** Contents

Chapter 7 **Family Quality of Life in Autism Spectrum**

Elena Predescu and Roxana Şipoş

**Section 4 Neurobiology, Genetics and Autism 113**

Chapter 8 **The Genetic and Epigenetic Basis Involved in the**

Chapter 9 **Intracellular Pathways Associated with the Etiology**

**Section 5 Development and Behaviour of Persons with Autism 209**

Chapter 10 **Proprioceptive and Kinematic Profiles for Customized Human‐**

Chapter 11 **Joint Attention Impairment in Autism: Clinical Picture, Rationale and Functional MRI Findings 237**

**Section 6 Interventions and Treatments of Autism 251**

Chapter 12 **Mindfulness and Autism Spectrum Disorder 253**

Chapter 13 **Constructing Healthy Experiences through Human-Animal Interactions for Autistic Children and Their Families: Implications for Research and Education 269**

Chapter 14 **Sociocultural Perspective on Autism Intervention 291** Elizabeth Hughes Fong and Helen Lee

Paula C. Fletcher and Pamela J. Bryden

Chapter 15 **Physical Activity in Individuals with Autism Spectrum Disorders**

Sara M. Scharoun, Kristen T. Wright, Jennifer E. Robertson-Wilson,

Contents **VII**

**Robot Interaction for People Suffering from Autism 211** Pauline Chevalier, Brice Isableu, Jean‐Claude Martin, Christophe

**Pathophysiology of ASD: Therapeutic Implications 115** Maria Carmen Carrascosa-Romero and Carlos De Cabo-De La Vega

**Disorders (ASD) 87**

**of Autism 183** Anthony J. Russo

Bazile and Adriana Tapus

Marwa Saleh and Aya Adel

Renee L. Cachia

Alina S. Rusu

**(ASD): A Review 301**

Autism Spectrum Disorders (ASD) are complex, brain-based disorders that affect a person's behavior. The Centers for Disease Control describes ASDs as: "developmental disabilities that cause substantial impairments in social interaction and communication and the presence of unusual behaviors and interests. People with ASDs have unusual ways of conducting themselves: they learn differently, may not pay attention and react unusually to different sensations. Thinking and learning abilities of people with ASDs can range from gifted or savant to severely challenged. ASD is noticeable since early childhood – usually before the age of 3 and lasts throughout a person's life."

Autism is four times more likely to affect boys than girls, and is prevalent across all racial, ethnic, and social groups, and affects all nations in the world. There is no known single cause for autism, although the best available science points to important genetics and in interaction with the environment (epigenetics).

ASD symptoms are difficult for families due to significant impairments in social interaction and communication skills, and by the presence of extremely challenging behaviors including aggression, property destruction and self-injury. In addition, socially inappropriate actions make these children stand out: repetitive motor behaviors (hand flapping, body rocking). They often insist on sameness and are ritualistic to the point of disruption to family routines. Many individuals with ASD have significant cognitive impairments making learning a challenge, although some have typical or even above average IQs. Among the ASD population, as many as 30-50% have seizures.

Dr. Leo Kanner first described autism in 1943. At first, autism was thought to be an early form of schizophrenia, which led to the belief that its onset could be caused by negative experience or bad parenting. We now know that this is not the case. ASD can be debilitating and is rising in prevalence. On March 27, 2014, the Centers for Disease Control and Prevention (CDC) reported that 1 in 68 children (1 in 42 boys and 1 in 189 girls) as having autism spectrum disorder (ASD) for the United States. This figure is an increased from the 2004 census of 1 in 166.

Even though the incidence of autism is rising, there is a lack of research writings concerning treatment. Most of the scientific research centers around biochemistry, neurology, and genetics. The important subject of treatment, the concerns of parents and caregivers who have children on the ASD spectrum, are often left to the private investigations of the families who often had to turn to ad hoc Google searches.

This book attempts to introduce some available approaches in the treatment domain. Beyond enduring the daily onslaught of the symptoms, parents are challenged to treat, live with, face other family members, and prepare a future for their special needs children within a social-cul-

tural context. The quality of life for the individual affected is not separate from the quality of life for the family. Understanding these social context makes possible the process of treatment that is located both in clinics and in society. ASD is primarily a social disorder, and hence the diagnosis has to be approached more than nosologically, or merely as a medical condition to be treated. The neuro-diversity of people who are different from mainstream has to be integrated into society. Certain strengths and abilities of ASD individuals can be beneficial. It is up to society to be proactive in setting aside space for the neuro-diverse individual; a failure to do so will result in a social impasse as large numbers ASD individuals will likely face a fate in institutions or at homes idle.

The attempt to treat means to carefully analyze the cognitive processing of the ASD mind. Joint attention, sensory processing, and theory of mind are discussed. In considering the common struggles of ASD individuals with anxiety, some authors wrote about mindfulness training and physical activities as conjunctive therapy. The use of robotics and animal-assisted therapies are raised as a tool to foster communication.

Perhaps the most important by-product of this book is a closer interaction between a variety of approaches. Each discipline understands a certain aspect of ASD and its implication to treatment, but they often fail to address the full function of the person as a whole. A book that provides a smorgasbord of approaches on the treatment of autism is a much-needed supplement. For the parent and/or caregiver, it should aid in clarifying what could have looked like a confusing array of possibilities in treatment. For the professionals, this book should ideally function as an encouragement towards work as a team, as each discipline complements each other for the benefit of the patient. For this teamwork to occur, each specialist must comprehend the other's language. To this end, the authors in this book have made their respective language understandable; their effort is applauded.

Autism is not a disease with recovery as an endpoint. Unlike other disease states, the journey does not end at a certain point but continues. The more treatment one embarks on, the more one becomes gracious, optimistic, and informative.

Most of all, this book is an expression that there is hope in the development of ever better treatment.

> **Jane Yip, PhD** Autism Parent Care, USA Purdue University, USA

## Preface

tural context. The quality of life for the individual affected is not separate from the quality of life for the family. Understanding these social context makes possible the process of treatment that is located both in clinics and in society. ASD is primarily a social disorder, and hence the diagnosis has to be approached more than nosologically, or merely as a medical condition to be treated. The neuro-diversity of people who are different from mainstream has to be integrated into society. Certain strengths and abilities of ASD individuals can be beneficial. It is up to society to be proactive in setting aside space for the neuro-diverse individual; a failure to do so will result in a social impasse as large numbers ASD individ-

The attempt to treat means to carefully analyze the cognitive processing of the ASD mind. Joint attention, sensory processing, and theory of mind are discussed. In considering the common struggles of ASD individuals with anxiety, some authors wrote about mindfulness training and physical activities as conjunctive therapy. The use of robotics and ani-

Perhaps the most important by-product of this book is a closer interaction between a variety of approaches. Each discipline understands a certain aspect of ASD and its implication to treatment, but they often fail to address the full function of the person as a whole. A book that provides a smorgasbord of approaches on the treatment of autism is a much-needed supplement. For the parent and/or caregiver, it should aid in clarifying what could have looked like a confusing array of possibilities in treatment. For the professionals, this book should ideally function as an encouragement towards work as a team, as each discipline complements each other for the benefit of the patient. For this teamwork to occur, each specialist must comprehend the other's language. To this end, the authors in this book have made their respective language understandable; their effort is applauded. Autism is not a disease with recovery as an endpoint. Unlike other disease states, the journey does not end at a certain point but continues. The more treatment one embarks on, the

Most of all, this book is an expression that there is hope in the development of ever better

**Jane Yip, PhD**

Autism Parent Care, USA Purdue University, USA

uals will likely face a fate in institutions or at homes idle.

more one becomes gracious, optimistic, and informative.

treatment.

mal-assisted therapies are raised as a tool to foster communication.

Autism is one of the most important conditions for psychiatrists, psychologists, teachers, speech therapists and occupational therapists today. It is a common disorder at 1/68 accord‐ ing to the Centre for Diseases and Control. It is probably the most commonly missed diag‐ nosis in psychology/psychiatry and in children in education, as well as adults attending occupational health settings. It is a clinical diagnosis as pointed out by the National Institute for Clinical Excellence. Unfortunately, a commonly used instrument called The Autism Di‐ agnostic Instrument, (ADI/R), as reported by Feinstein, (2010) in his book, "Autism in Histo‐ ry", that many of the critics at an International Meeting for Autism Research in London, "lambasted the tool, (ADI/R) for missing many cases of Autism", and that this instrument was an expensive and, "ineffective instrument". This problem has now become a serious public health problem. It is critical that children are diagnosed as early as possible, to have the best outcome.

Autism is probably one of the most complex phenomena that exists and this is so whether one considers it a disorder, (DSM V/ICD X), or a point of diversity on a neurodiversity spec‐ trum. Both points of view are described in this book. Many persons with high functioning autism are part of this neurodiversity spectrum, when they have no need or contact with professionals in psychiatry/psychology, etc. When they become seriously anxious or de‐ pressed, they have a need for professional intervention.

The profile of autism is far wider and more complex than described in DSM V, as described in the chapter in this book called "The Clinical Gestalts of Autism: Over 40 years of Clinical Experience with Autism".

The chapters on interventions in this book range from pioneering and complex, for example robots in ASD therapy, to the simple physical activity with persons with ASD, with other chapters focusing on mindfulness and animal assisted activities with persons with autism.

Joint attention problems are central to understanding autism and this chapter will be very well worth reading, as is the chapter on proprioception and kinematic profiles.

Other correlations with autism have individual chapters including sex bias, month of birth and migration.

The neurobiology of autism is well covered in the chapters on epigenetics and intracellular pathways. Interventions are also dealt with by the chapters on socio-cultural perspectives, feeding issues and quality of life also have individual chapters.

The book is focused on recent advances in Autism Spectrum Disorders and will give the reader a unique up to date perspective on the topic of autism. The pace of new work on autism is now so fast that there is a need for a new book like this at relatively short intervals to keep professionals up to date and these professionals will include psychologists, psychia‐ trists, speech therapists, occupational therapists, teachers and all professionals including re‐ searchers working in the area of autism.

#### **References**

**Professor Michael Fitzgerald** Department of Psychiatry Trinity College, Dublin 2 Ireland **Assessment and Neurodiversity**

autism is now so fast that there is a need for a new book like this at relatively short intervals to keep professionals up to date and these professionals will include psychologists, psychia‐ trists, speech therapists, occupational therapists, teachers and all professionals including re‐

[1] American Psychiatric Association [2013]: Diagnostic and Statistical Manual of Men‐ tal Disorders, (Fifth Edition), Arlington, V.A: American Psychiatric Publishing.

[3] World Health Organisation [1992]: The ICD 10 Classification of Mental and Be‐ havioural Disorders: Clinical Descriptions and Diagnostic Guidelines. Geneva:

[4] Centres for Disease Control and Prevention [2017]: Autism Spectrum Disorder.

**Professor Michael Fitzgerald** Department of Psychiatry Trinity College, Dublin 2

Ireland

[2] Feinstein A. [2010]: A history of Autism. Chichester: Wiley – Blackwell.

searchers working in the area of autism.

World Health Organisation.

CDC.Gov, downloaded, 22nd January 2017.

**References**

X Preface

#### **A Different Point of View: The Neurodiversity Approach to Autism and Work A Different Point of View: The Neurodiversity Approach to Autism and Work**

Timo Lorenz, Nomi Reznik and Kathrin Heinitz Timo Lorenz, Nomi Reznik and Kathrin Heinitz

Additional information is available at the end of the chapter Additional information is available at the end of the chapter

http://dx.doi.org/10.5772/65409

#### **Abstract**

With this chapter, we want to open up the debate whether neurodiversity might be the next step of diversity. The term neurodiversity was first established in the online autism community in the 1990s and has since spread both off‐ and online. It describes the idea that, throughout the human population, different brain developments and structures exist. Neuronal variances such as Autism are therefore not to be seen as disorders but as variations different from the neurotypical brain. Instead of being considered ill and cure‐worthy, neurodiverse people should be included and integrated into society. In our current research, we follow the neurodiversity approach and focus on the subject of autism in the work context. We found that certain strengths and abilities are most prominent in autistic people (such as logical reasoning, visual perception) and that autistic people are able to find different effective solutions to overcome the barriers detaining them from entering the job market. Furthermore, while many autistic individuals are employed in regular competitive jobs, more focus on autism‐specific job environments is needed. These findings lead us to the conclusion that autistic individuals have potential that is beneficial for society.

**Keywords:** autism, neurodiversity, employment

## **1. Introduction: color, gender, brain?**

Neurodiversity is a much‐discussedtopic in today'sAutism Spectrum Condition research (e.g., [1]).In this chapter, we will shed some light on the relationship ofindividuals with Autism with the Autism community, the workplace, and the scientific community.

The term neurodiversity originated from the autism online community in the late 1990s with sociologist Judy Singer commonly referred to as the creator of the word [2]. It is important to

© 2017 The Author(s). Licensee InTech. This chapter is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. © 2017 The Author(s). Licensee InTech. This chapter is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

note that even now, about twenty years since its first use, there is still no proper scientific definition of neurodiversity. In this chapter, we define the neurodiversity concept simply as the fact that there are differences in brain structures among the population [2, 3] just as there are different skin colors and genders between people—a diverse neurology.

Of course, there is more to the topic than the fact that peoples' brains are physically different, that their amygdalae may or may not differ in size [4]. The neurodiversity movement (NDM) focuses on a positive, strengths‐based approach. It has two major claims [3]: firstly, deviations from the standard neurotypical brain that result in differing behavioral patterns are natural variations, not disorders or illnesses. Therefore, autism is seen as a different nuance of human behavior with its very own set of strengths [5]. Many individuals with autism see their condition as a crucial part of their individual identity, not as a mere illness they happen to suffer from [6].

The NDM's second claim follows logically from this mindset: If neurological differences are not disorders or illnesses, but merely variations, neurodiverse people are to be treated equally to neurotypical individuals [3]. This, of course, is related to all kinds of human interaction, including the workplace. We therefore argue that neurodiversity should be the logical next step in diversity. There are many conditions that fall into the neurodiverse category—e.g., Tourette's syndrome or ADHD [2]. The debate on which conditions have to be included and which don't is still going on [2]. In this chapter, we, however, decided to focus solely on autism.

## **2. From the inside: the autism community and neurodiversity**

As stated above, the NDM is no scientific invention, but stems from the 1990s autism online community [2]. Since then, the Internet as a whole and online communication specifically has changed, become more accessible and part of everyday life [7]. To paint a picture of the current situation, we will introduce some of the bigger networks, how they operate, and their opinion on the neurodiversity concept.

#### **2.1. Autistic Self Advocacy Network (ASAN)**

The probably most popular and best‐known autism‐related website is the Autistic Self Advocacy Network (ASAN) with its slogan "nothing about us without us". ASAN is a nonprofit organization "by and for autistic people" (autisticadvocacy.org) founded in 2006. They give advice on public policy advocacy, provide information about Autism to fight the public misconceptions on the condition, develop cultural activities for autistic people, and actively take part in advancing autism‐related disability rights. They also work for a better employment situation for autistic people, as well as for a fairer, more equal approach to accepting autistic people in Academia. ASAN has a very inclusive point of view: Co‐Founder and current president of ASAN, Ari Ne'eman, who himself is on the spectrum, serves on the National Council on Disability since 2010 and supports the neurodiversity concept.

#### *2.1.1. Autism Asperger's Digest*

note that even now, about twenty years since its first use, there is still no proper scientific definition of neurodiversity. In this chapter, we define the neurodiversity concept simply as the fact that there are differences in brain structures among the population [2, 3] just as there

Of course, there is more to the topic than the fact that peoples' brains are physically different, that their amygdalae may or may not differ in size [4]. The neurodiversity movement (NDM) focuses on a positive, strengths‐based approach. It has two major claims [3]: firstly, deviations from the standard neurotypical brain that result in differing behavioral patterns are natural variations, not disorders or illnesses. Therefore, autism is seen as a different nuance of human behavior with its very own set of strengths [5]. Many individuals with autism see their condition as a crucial part of their individual identity, not as a mere illness they happen to

The NDM's second claim follows logically from this mindset: If neurological differences are not disorders or illnesses, but merely variations, neurodiverse people are to be treated equally to neurotypical individuals [3]. This, of course, is related to all kinds of human interaction, including the workplace. We therefore argue that neurodiversity should be the logical next step in diversity. There are many conditions that fall into the neurodiverse category—e.g., Tourette's syndrome or ADHD [2]. The debate on which conditions have to be included and which don't is still going on [2]. In this chapter, we, however, decided to focus solely on autism.

As stated above, the NDM is no scientific invention, but stems from the 1990s autism online community [2]. Since then, the Internet as a whole and online communication specifically has changed, become more accessible and part of everyday life [7]. To paint a picture of the current situation, we will introduce some of the bigger networks, how they operate, and their opinion

The probably most popular and best‐known autism‐related website is the Autistic Self Advocacy Network (ASAN) with its slogan "nothing about us without us". ASAN is a nonprofit organization "by and for autistic people" (autisticadvocacy.org) founded in 2006. They give advice on public policy advocacy, provide information about Autism to fight the public misconceptions on the condition, develop cultural activities for autistic people, and actively take part in advancing autism‐related disability rights. They also work for a better employment situation for autistic people, as well as for a fairer, more equal approach to accepting autistic people in Academia. ASAN has a very inclusive point of view: Co‐Founder and current president of ASAN, Ari Ne'eman, who himself is on the spectrum, serves on the

National Council on Disability since 2010 and supports the neurodiversity concept.

are different skin colors and genders between people—a diverse neurology.

4 Autism - Paradigms, Recent Research and Clinical Applications

**2. From the inside: the autism community and neurodiversity**

suffer from [6].

on the neurodiversity concept.

**2.1. Autistic Self Advocacy Network (ASAN)**

Autism Asperger's Digest (AAD), a division of Future Horizons Inc., is a magazine about all autism‐related topics. They reach out to autistic individuals, their parents, and their therapists to spread information and provide a network.

Various other online platforms, such as Art of Autism, also provide insights on Autism for neurodiverse people and everyone who takes an interest in the condition. Considering this broad base of neurodiversity‐based autism resources, it is noteworthy that the autism online community does not wholeheartedly agree about the concept and its political implications. A rather controversial topic is the genetic cause of autism. Current research seems to agree that autism is, in fact, highly genetic [3]. Those who consider autism a variation rather than a disorder have voiced their concern about how this information is handled—fearing the rise of a eugenic approach [6] based on cause‐oriented research.

Additionally, the mere concept of neurodiversity encounters resistance in the Autism com‐ munity. Blogger and student Jake Crosby, who writes for Autisminvestigated.com, is an anti‐ neurodiversity activist. Being reportedly diagnosed with Asperger's himself, Crosby considers the NDM a movement for people who are not truly impaired (i.e., high functioning autism).

He and many of his followers view autism as a disability, an impairment that is in need of a cure. They also reject the political implications of the NDM: After Ari Ne'eman's nomination into the National Council of Disability, he wrote a blog entry called "Keeping Autism Neuro‐ diversity out of the White House" [8] in which he harshly criticized the concept of neurodi‐ versity, ASAN, and the whole NDM for being not representative of autistic individuals as himself who struggle with their disability in everyday situations.

While the NDM has a great support base and has already made quite some change in how autism is regarded in our society, the autism community remains divided. This is also apparent in the workplace problem: a disabled individual is going to face different barriers compared to an individual that is just considered different—but there will also be less lenience for mistakes or special needs and necessities.

## **3. From between sides: autism, neurodiversity and the workplace**

One of the most relevant and challenging problems in the everyday life of individuals with Autism is finding and keeping work [9]. According to UN General Secretary Ban Ki‐moon's message regarding the World Autism Awareness Day, around 80% of adults with autism are unemployed [10], in spite of existing evidence that the desire to work is just the same as in neurotypicals [11]. Individuals with autism, however, have to face different, and probably more challenges in the process of finding, and later maintaining, employment [12].

The NDM calls for employers to be open minded and more approachable [13]. Still, for individuals with autism who want to work, there are two options: try to gain employment in a nonspecific workplace that might not be accommodating enough, or find work in an autism‐ specific job environment [11].

For those who take the first route, even entering the job market is still rather difficult. Barriers such as various communication problems or confusing application processes have to be overcome before employment is possible [12]. When those barriers are mastered, numerous others usually follow: Of course, due to the misinformation on the topic of autism as well as to communication issues, workplace discrimination and, in the worst case, workplace bullying are common [14]. Literature targeted at adult employees with autism and their employers usually mention how to counteract bullying in the office [14]. It should also be noted that disclosure of a diagnosis to superiors, and colleagues is often avoided. Autistic individuals fear negative reactions, being stereotyped or held up to old prejudices [15, 16], which is exactly what autism advocates such as ASAN are fighting against.

This problem is amplified by the fact that autistic individuals react differently to leading styles than neurotypical individuals: Parr, Hunter, and Ligon [17] report that while neurotypicals are inspired and motivated by transformational leadership measures, autistic individuals reported increased anxiety and overall distress, thereby worsening both their job experience and their productivity.

Those difficulties in understanding verbal nuances or implicit subtext in team meetings or casual conversations, coupled with a certain rule affinity that many autistic individuals are prone to, make for a less than optimal relationship with colleagues, subordinates, and superiors alike [16].

On top of this, not all challenges that autistic individuals have to face in the workplace are interpersonal: the work environment also plays an important role [16]. The common open plan cubicle offices offer various distractions (noises from other people or electronic devices, flickering lights, air circulation, etc.). Neurotypicals usually are able to block them out, but for autistic individuals they can easily become overwhelming [9]. To cope with the sensory overload, autistic individuals develop strategies like wearing headphones and listening to music while working or avoiding the perceived superabundance of social interaction by taking breaks alone [9]. Of course, those are behaviors that seem weird to many neurotypical people, thus increasing the social difficulties in regular office settings.

Autistic individuals who take the second route, that is choosing to work in an autism‐specific, supported work setting, usually report less communication and environmental problems than those who work in regular jobs [16]. Autism‐specific job environments usually feature support in form of job coaches, specific training programs, and matching the employee's skills to the job requirements [18]. The following list provides an overview of companies that currently offer supported job environments.

Danish company Specialisterne ("The Specialists") does business consulting, for example, programming, software testing, and data entry. The IT firm strongly supports the NDM: Their logo is a Dandelion seed, paired with the slogan "Weed or herb? You decide. The value of what you see depends on who you are", which reflects the NDM's idea that society's point of view has to shift in order to recognize the value of neurodiverse individuals.

Specialisterne claim on their website that a majority of their workers is neurodiverse, diag‐ nosed with autism, ADHD, Tourette's, or similar conditions. They use the tagline "Passion for Details" and explain that it stands both for the company's work values and for the characteristic strengths of individuals with autism.

For those who take the first route, even entering the job market is still rather difficult. Barriers such as various communication problems or confusing application processes have to be overcome before employment is possible [12]. When those barriers are mastered, numerous others usually follow: Of course, due to the misinformation on the topic of autism as well as to communication issues, workplace discrimination and, in the worst case, workplace bullying are common [14]. Literature targeted at adult employees with autism and their employers usually mention how to counteract bullying in the office [14]. It should also be noted that disclosure of a diagnosis to superiors, and colleagues is often avoided. Autistic individuals fear negative reactions, being stereotyped or held up to old prejudices [15, 16], which is exactly

This problem is amplified by the fact that autistic individuals react differently to leading styles than neurotypical individuals: Parr, Hunter, and Ligon [17] report that while neurotypicals are inspired and motivated by transformational leadership measures, autistic individuals reported increased anxiety and overall distress, thereby worsening both their job experience and their

Those difficulties in understanding verbal nuances or implicit subtext in team meetings or casual conversations, coupled with a certain rule affinity that many autistic individuals are prone to, make for a less than optimal relationship with colleagues, subordinates, and

On top of this, not all challenges that autistic individuals have to face in the workplace are interpersonal: the work environment also plays an important role [16]. The common open plan cubicle offices offer various distractions (noises from other people or electronic devices, flickering lights, air circulation, etc.). Neurotypicals usually are able to block them out, but for autistic individuals they can easily become overwhelming [9]. To cope with the sensory overload, autistic individuals develop strategies like wearing headphones and listening to music while working or avoiding the perceived superabundance of social interaction by taking breaks alone [9]. Of course, those are behaviors that seem weird to many neurotypical people,

Autistic individuals who take the second route, that is choosing to work in an autism‐specific, supported work setting, usually report less communication and environmental problems than those who work in regular jobs [16]. Autism‐specific job environments usually feature support in form of job coaches, specific training programs, and matching the employee's skills to the job requirements [18]. The following list provides an overview of companies that currently

Danish company Specialisterne ("The Specialists") does business consulting, for example, programming, software testing, and data entry. The IT firm strongly supports the NDM: Their logo is a Dandelion seed, paired with the slogan "Weed or herb? You decide. The value of what you see depends on who you are", which reflects the NDM's idea that society's point of view

Specialisterne claim on their website that a majority of their workers is neurodiverse, diag‐ nosed with autism, ADHD, Tourette's, or similar conditions. They use the tagline "Passion for

what autism advocates such as ASAN are fighting against.

6 Autism - Paradigms, Recent Research and Clinical Applications

thus increasing the social difficulties in regular office settings.

has to shift in order to recognize the value of neurodiverse individuals.

productivity.

superiors alike [16].

offer supported job environments.

Founded in 2004, they are now internationally successful with offices all over Europe and, since 2013, even the US; the foundation's goal is to offer one million jobs for individuals with autism and to ultimately form a society where everyone has equal chances on the job market. In 2009, partnered with Lego Foundation and the Danish Ministry of Education, Specialisterne Foundation opened an education program for young people (aged 16–25) with autism, with a focus on developing social and personal skills. At the moment, there are 29 students attending the program.

Partnered with Specialisterne is software giant SAP. Established in 1975 in Weinheim, Germa‐ ny, SAP reportedly had around 75,000 employees in 2015, of which 100 are individuals with autism, divided between eight countries. This was made possible through the campaign "Autism at Work" in 2015. The hiring process was conducted by Specialisterne. SAP, who claims to value diversity as highly as quality, even announced their goal to have 1% of employees to be autistic individuals.

Also based in Germany is Auticon, an IT company that employs only autistic individuals as consultants. Their slogan "Auticon—Querdenker mit System" (approximately "systematically thinking outside the box") highlights how autistic individuals are often able to work more detailed, concentrated, and systematic than neurotypicals and have different ways of looking at problems. To counteract social problems that might occur, Auticon successfully uses job coaches as a link between the consultants and the customers—although only when necessary and specifically needed. Around 2/3 of Auticon's employees are diagnosed with Autism Spectrum Condition.

In Singapore, the United Overseas Bank Group has, together with the Autism Resource Centre, started an initiative to include autistic individuals. In their department for handling costumer documents (checking, digitalization, and archiving), about a third of the 50 employees are diagnosed with autism.

In a press release from 2015, the head office noted that the sense for detail and the systematical approach that individuals with autism often possess make them very qualified for this particular work. The UOB has also successfully implemented job coaches and reported an overall increase of work productivity since the start of the initiative.

Meticulon is a Canadian IT startup company that, just as Auticon in Germany, employs only autistic individuals as IT consultants. The name is a play on "meticulous", referencing again the unusual abilities of their employees. They advertise their services with "Not your average anything!" and have been quite successful since their establishment in 2013.

As of lately, the Israeli military has become aware of the strengths of autistic individuals. In their Special Intelligence Unit 9900, young autistic adults use their above‐average visual perception skills for various geography‐related tasks, for example,. mapping or analyzing satellite images for the smallest changes. To ensure their abilities match the military's require‐ ments (both perception skills and social abilities), young autistic adults who want to join the Israeli Defense Forces have to participate in the Ro'im Rachok training program ("looking forward"). In three training intervals (3 months each), they are prepared for their job with a mixture of therapy sessions and military courses.

Looking at this surely not exhaustive list, it might seem that there are plenty of options to find supported work as an autistic individual. However, all of those companies together make for only a few hundred jobs, and even that is a rather optimistic estimate. With an estimated prevalence of Autism of 74 in 10,000 children [19], this obviously is insufficient.

It is also striking that nearly all of these supported jobs (excluding the UOB and the Israeli military) are in IT. This certainly matches the prevailing opinion that autistic individuals somehow naturally have an interest in computer sciences [20]. While it is true that autistic individuals have a distinct job strengths profile that is compatible with, but not limited to IT, the job interests of autistic individuals in non‐supported jobs are rather broad [15].

Still, IT, finance, and military are currently the only occupational sectors that offer supported jobs for autistic individuals.

### **4. From the outside: academia and autism**

Since its first characterization in 1943 by Leo Kanner, autism has been of great interest for the scientific community [3]. Still, it took fifty more years until the idea of an autism spectrum was developed, varying between lower than average IQ, often times nonverbal individuals, and so‐called high functioning individuals with average to above‐average IQ and the above stated characteristic abilities [21]. Current research still has a rather rigid view on autism. This is for example mirrored by the fact that, although the autism community and the NDM themselves prefer the use of the term condition [3], the official, scientific name still remains Autism Spectrum Disorder.

Academia seems to have acknowledged that many autistic individuals have a certain talent and interest in IT, math, and science as a whole [22, 23]. There also appears to be general consensus that autistic individuals have difficulties in social situations [1]. On the other hand, there have been debates on the topic of intelligence, since autistic children tend to perform badly on verbal‐based intelligence tests like the Wechsler Intelligence Scale for Children (WISC), and since the WISC is one of the most popular intelligence tests for children, many autistic children were diagnosed as "mentally retarded" [24]. Following Temple Grandin's Thinking in Pictures—theory [25], there have recently been findings that in intelligence tests which do not use verbal communication (e.g., Raven's Matrices), autistic individuals score significantly higher (with a significantly bigger difference to the verbal‐based results than their neurotypical peers; [24]). Those results also show that, while autistic individuals do score low on verbal‐based tests as well as on spatial testings, they often show better than average results on rule‐based tasks, memory tests, and embedded figure tests. Those results can even be replicated using the WISC, as some of its subtests (figure embedding, block design) test exactly those abilities [26].

Intelligence testing is, of course, an old and important tool for psychological diagnostics: Intelligence is a good predictor for success and job performance [27]. It is, however, important to ensure the instrument of choice actually measures what it intends to measure [28], which is not always the case. When scientists produce results that fit their expectations by using the same instruments or tasks that have produced the same or similar results in the past, they conduct biased, neurotypically centered research. This is apparent in the fact that the WISC is still used to test autistic children, even though its ineptitude is known [29]. It also explains the findings that indicate autistic individuals are less employable than neurotypicals, thereby giving lowest priority to actual, specific work‐related skills, and focusing on categories like "independent use of public transportation" or "preferring routine" [30]: if researchers are fully convinced of an alleged fact, their results are likely to confirm this fact [31].

Another problem is addressed in a paper by Stevenson et al. [32]: The authors call out the scientific community on infantilizing autism. This ranges from media and the general public assuming that autism is a condition that mostly concerns children [32], to a neurotypically centered way of promoting neurodiversity: namely the idea of using neurodiversity as a tool to help autistic individuals feel better in group therapy settings, instead of actually believing in the neurodiversity concept, and implementing it in a clinical setting, thereby promoting equality between scientists and patients [23]. While self‐advocacies like ASAN are trying to transfer their slogan Nothing About Us Without Us into public awareness, there still is no real dialogue between most researchers and autism communities, even though it is necessary in order to improve toward a productive and inclusive research, instead of researching "on Autism" [33].

## **5. Future perspectives**

Israeli Defense Forces have to participate in the Ro'im Rachok training program ("looking forward"). In three training intervals (3 months each), they are prepared for their job with a

Looking at this surely not exhaustive list, it might seem that there are plenty of options to find supported work as an autistic individual. However, all of those companies together make for only a few hundred jobs, and even that is a rather optimistic estimate. With an estimated

It is also striking that nearly all of these supported jobs (excluding the UOB and the Israeli military) are in IT. This certainly matches the prevailing opinion that autistic individuals somehow naturally have an interest in computer sciences [20]. While it is true that autistic individuals have a distinct job strengths profile that is compatible with, but not limited to IT,

Still, IT, finance, and military are currently the only occupational sectors that offer supported

Since its first characterization in 1943 by Leo Kanner, autism has been of great interest for the scientific community [3]. Still, it took fifty more years until the idea of an autism spectrum was developed, varying between lower than average IQ, often times nonverbal individuals, and so‐called high functioning individuals with average to above‐average IQ and the above stated characteristic abilities [21]. Current research still has a rather rigid view on autism. This is for example mirrored by the fact that, although the autism community and the NDM themselves prefer the use of the term condition [3], the official, scientific name still remains Autism

Academia seems to have acknowledged that many autistic individuals have a certain talent and interest in IT, math, and science as a whole [22, 23]. There also appears to be general consensus that autistic individuals have difficulties in social situations [1]. On the other hand, there have been debates on the topic of intelligence, since autistic children tend to perform badly on verbal‐based intelligence tests like the Wechsler Intelligence Scale for Children (WISC), and since the WISC is one of the most popular intelligence tests for children, many autistic children were diagnosed as "mentally retarded" [24]. Following Temple Grandin's Thinking in Pictures—theory [25], there have recently been findings that in intelligence tests which do not use verbal communication (e.g., Raven's Matrices), autistic individuals score significantly higher (with a significantly bigger difference to the verbal‐based results than their neurotypical peers; [24]). Those results also show that, while autistic individuals do score low on verbal‐based tests as well as on spatial testings, they often show better than average results on rule‐based tasks, memory tests, and embedded figure tests. Those results can even be replicated using the WISC, as some of its subtests (figure embedding, block design) test exactly

prevalence of Autism of 74 in 10,000 children [19], this obviously is insufficient.

the job interests of autistic individuals in non‐supported jobs are rather broad [15].

mixture of therapy sessions and military courses.

8 Autism - Paradigms, Recent Research and Clinical Applications

**4. From the outside: academia and autism**

jobs for autistic individuals.

Spectrum Disorder.

those abilities [26].

With this chapter, we wanted to offer a slightly different, more critical perspective on the current situation regarding autism, employment, and its social relevance. We found that while there are, in fact, employment possibilities for autistic individuals, they are scarce and rather specific in terms of occupational fields—aside from IT and finance, there is not much variety. Conventional, non‐supported competitive employment offers more sectors to choose from; however, autistic individuals experience those jobs as stressful and report problems with bullying [9, 14].

This overall situation has consequences: autistic individuals as a whole report considerably lower self‐efficacy than their neurotypical peers, both occupational and general [15]. This does not come as a surprise, given the fact that self‐efficacy and employment status are correlated [15]. Self‐efficacy is also known to be correlated to life satisfaction [34] and to be helpful in overcoming job‐related barriers [35]. Curiously, neurotypical individuals do not show differences in general and occupational self‐efficacy, while autistic individuals only show an increase in occupational self‐efficacy when successfully employed [15]. This suggests a stricter division between work life and social or personal life for autistic individuals than for neuro‐ typicals. Whether this has developmental causes, and whether work‐specific self‐efficacy training might be effective in helping autistic individuals overcome job barriers in different job settings obviously needs thorough research.

Considering the currently estimated prevalence for autism (as noted above, 74 in 10,000 children; [19]), the situation concerning autism and work is socially relevant. We, therefore, propose some changes that allow for a more open‐minded interaction between employers and autistic individuals. First of all, there needs to be more education on the actual symptoms and distinctive behavioral features of autism for employers' associations.  Educational campaigns specifically addressing the work market should help with that. With those prejudices out of the way, the stigma of autism should gradually fade, meaning that autistic individuals might have less fear to disclose their diagnosis to superiors and colleagues. Less social exclusion, as well as a more under‐ standing environment would improve the work experience at nonsupported jobs.

Accompanying this is the currently prevailing deficit policy in the job market. Neurodiversity as a concept promotes a strengths‐based approach instead. By focusing on workers' abilities instead of deficits, employers and employees could both profit.

However, we do not want to praise the neurodiversity concept as a cure‐all without fault. We are aware of the criticism against it; the NDM does in fact skew toward economical topics more than necessary. Of the whole Autism Spectrum, the high functioning autistic individuals profit the most from the concept, as they are the most marketable, and probably easier to include in the job world than their so‐called low‐functioning peers. Those who do not fit the criteria of being high‐functional for being nonverbal, more prone to repetitive movements, or similar symptoms, are in danger of being forgotten by the NDM. In order to avoid this, we propose to carefully evaluate economic and social motives while promoting the neurodiversity concept.

We believe that creating a triad of community, work, and research, connected through reciprocal communication, will help enormously to overcome prejudices and to establish realistic expectations for all parties. Adopting a different point of view is the first step toward a neurodiverse society.

#### **Appendix**

Resources for further information on autism‐supporting employment:

Companies:

**•** www.idfblog.com/blog/2014/04/10/autism‐idf‐meet‐soldiers‐intelligence‐unit‐9900

Advocacies:

training might be effective in helping autistic individuals overcome job barriers in different

Considering the currently estimated prevalence for autism (as noted above, 74 in 10,000 children; [19]), the situation concerning autism and work is socially relevant. We, therefore, propose some changes that allow for a more open‐minded interaction between employers and autistic individuals. First of all, there needs to be more education on the actual symptoms and distinctive behavioral features of autism for employers' associations.  Educational campaigns specifically addressing the work market should help with that. With those prejudices out of the way, the stigma of autism should gradually fade, meaning that autistic individuals might have less fear to disclose their diagnosis to superiors and colleagues. Less social exclusion, as well as a more under‐

standing environment would improve the work experience at nonsupported jobs.

instead of deficits, employers and employees could both profit.

Resources for further information on autism‐supporting employment:

a neurodiverse society.

**•** www.specialisterne.com

**•** www.go.sap.com

**•** www.auticon.de

**•** www.uobgroup.com

**•** www.meticulon.com

**Appendix**

Companies:

Accompanying this is the currently prevailing deficit policy in the job market. Neurodiversity as a concept promotes a strengths‐based approach instead. By focusing on workers' abilities

However, we do not want to praise the neurodiversity concept as a cure‐all without fault. We are aware of the criticism against it; the NDM does in fact skew toward economical topics more than necessary. Of the whole Autism Spectrum, the high functioning autistic individuals profit the most from the concept, as they are the most marketable, and probably easier to include in the job world than their so‐called low‐functioning peers. Those who do not fit the criteria of being high‐functional for being nonverbal, more prone to repetitive movements, or similar symptoms, are in danger of being forgotten by the NDM. In order to avoid this, we propose to carefully evaluate economic and social motives while promoting the neurodiversity concept.

We believe that creating a triad of community, work, and research, connected through reciprocal communication, will help enormously to overcome prejudices and to establish realistic expectations for all parties. Adopting a different point of view is the first step toward

job settings obviously needs thorough research.

10 Autism - Paradigms, Recent Research and Clinical Applications

## **Author details**

Timo Lorenz\* , Nomi Reznik and Kathrin Heinitz

\*Address all correspondence to<EMAIL_ADDRESS>
Department of Education and Psychology, Freie Universität Berlin, Berlin, Germany

## **References**

[22] James I. Autism and mathematical talent. The Mathematical Intelligencer. 2010;32(1): 56–58.

[8] Keeping Autism Neurodiversity out of The White House [Internet]. 2009. Available from: http://www.ageofautism.com/2009/12/keeping‐autism‐neurodiversity‐out‐of‐

[9] Hurlbutt K, Chalmers L. (2004). Employment and adults with Asperger syndrome. Focus on Autism and Other Developmental Disabilities. 2004;19(4):215–222 [10] Secretary‐General's Message for 2015 [Internet]. 2015. Available from: http:// www.un.org/en/events/autismday/2015/sgmessage.shtml [Accessed: 2016‐08‐18] [11] Hendricks D. Employment and adults with autism spectrum disorders: Challenges and strategies for success. Journal of Vocational Rehabilitation. 2010;32(2):125–134.

[12] Lorenz T, Frischling C, Cuadros R, Heinitz K. Autism and overcoming job barriers: Comparing job‐related barriers and possible solutions in and outside of Autism‐specific

[13] Neurodiversity: A Balanced Opinion [Internet]. 2009. Available from: http://autismdi‐

[14] Simone R, Grandin T. Asperger's on the job: Must‐have advice for people with As‐ perger's or High Functioning Autism, and their employers, educators, and advocates.

[15] Lorenz T, Heinitz K. Aspergers–different, not less: occupational strengths and job interests of individuals with Asperger's syndrome. PLoS One. 2014;9(6). doi:10.1371/

[16] Morris MR, Begel A, Wiedermann B. Understanding the challenges faced by neurodi‐ verse software engineering employees: Towards a more inclusive and productive technical workforce. In: Proceedings of the 17th International ACM SIGACCESS Conference on Computers & Accessibility ACM; 26‐28 October 2015; Lisbon. New York,

[17] Parr AD, Hunter ST, Ligon GS. Questioning universal applicability of transformational leadership: Examining employees with autism spectrum disorder. The Leadership

[18] Capo LC. (2001). Autism, employment, and the role of occupational therapy. Work.

[19] French LR, Bertone A, Hyde KL, Fombonne E. Epidemiology of autism spectrum disorders. In: The neuroscience of autism spectrum disorders. 1st ed. Oxford: Elsevier;

[20] Mazurek MO, Shattuck PT, Wagner M, Cooper BP. Prevalence and correlates of screen‐ based media use among youths with autism spectrum disorders. Journal of Autism and

emsployment. PLoS One. 2016;11(1) doi:10.1371/journal.pone.0147040

the‐white‐house.html [Accessed: 2016‐07‐27]

12 Autism - Paradigms, Recent Research and Clinical Applications

gest.com/neurodiversity/ [Accessed: 2016‐08‐09]

Arlington, TX: Future Horizons; 2010.

journal.pone.0100358

NY: ACM; 2015. p. 173–184

Quarterly. 2013;24(4);608–622.

Developmental Disorders. 2012;42(8):1757–1767.

[21] Wing L. The autistic spectrum. The Lancet. 1997;350:1761–1766.

2001;16(3):201–207.

2013. p. 3–24.

**Provisional chapter**

## **The Clinical Gestalts of Autism: Over 40 years of Clinical Experience with Autism The Clinical Gestalts of Autism: Over 40 years of Clinical Experience with Autism**

Michael Fitzgerald Michael Fitzgerald

Additional information is available at the end of the chapter Additional information is available at the end of the chapter

http://dx.doi.org/10.5772/65906

#### **Abstract**

The clinical gestalts of autism are very broad and much more heterogeneous than people realise. DSM V [1] gives a more narrow and condensed description of what autism is in the twentieth century. DSM focuses on problems with socioemotional reciprocity, nonverbal communication and difficult interpersonal relationships, restricted, repetitive patterns of behaviour, early onset and functional impairment. First, I want to flesh out the autism spectrum disorder gestalts as it presents to experienced clinical practitioners. It is the opposite of the "tick box" approach to diagnosis so common today. It focuses on the phenomena as they would have been focused on in the late nineteenth and early twentieth century, an approach that has faded into the background in the late twentieth and early twenty-first century. It is critical at this point of the twenty-first century that we re-engage with phenomenology and with the clinical gestalt of psychiatric conditions which show a great deal of overlap with much mixed phenomenology. We will start by examining social relations in autism spectrum disorders. Clearly, this is central to autism.

**Keywords:** clinical gestalts of autism, evolving concepts of autism

## **1. Introduction**

There has been a very considerable evolution of the concept of autism since the Kanner 1943 paper [2]. The move has been from a very narrow concept of autism with Kanner to a much broader concept of autism today, which was foreshadowed by Hans Asperger in 1938 [3] and 1944 [4]. I will describe the characteristics of the broader autism phenotype as I have observed them over the past 40 years.

and reproduction in any medium, provided the original work is properly cited.

© 2017 The Author(s). Licensee InTech. This chapter is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

© 2016 The Author(s). Licensee InTech. This chapter is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution,

## **2. Social deficits**

When professionals meet families with autism, they often very quickly become aware of how very clingy to one parent the child with autism is, with a fear of groups but being less anxious in a one-to-one situation, particularly with adults or having one "friend". In groups only relating to one person is common, often to the point of fixation, making inappropriate comments is extremely common to peers and adults, for example, saying to a doctor, "you are very trendy".  When they come in to a doctor or examiner's officer, they will often sit on the "parent's chair" or alternatively sit away at the furthest point from the examiner, in the room. Extreme positions are very common.

They often will hold mother's face roughly to get her to look straight at them. In communication, they will often look past people and have reduced eye contact in consultation and elsewhere.

One parent often describes themselves as loners and good mixers at the very same time. They mean that sometimes they are loners and sometimes they are good mixers, but do not and cannot come down on either side. Ambivalence and inability to make up their minds on emotional matters are extremely common. One parent often emphasises their private time, while saying they are sociable. Children with autism can engage in extreme interpersonal aggression, but less degrees of interpersonal aggression are very common. Children, when they engage in rough play, will cause considerable upset at school and home and can include attempts to choke other children. These children with autism experience a great deal of suspicion and paranoid thoughts of people and feel people are against them, talking about them, and not liking them. They are extremely sensitive to highly expressed emotion.

In the marital situation, you often find a change in roles where the wife will go out to work and the husband will become a house-husband. The house-husbands will very often have autistic traits, if not autism. Being unemployed will not be rare in persons with autism or Asperger's syndrome. This is the default position from the stress of work and interpersonal relationships at work.

Girls (and to a lesser extent boys) with autism may live their lives one second after others around them and will copy the behaviour of people around them one second later and then hide their autism. The paradox is that persons with autism can be profoundly observant. This can lead to "as if" or chameleon-like personalities "hide" and "hide" their autism in this way.

## **3. School and college years**

For young children, biting and kicking is fairly common in preschool and at home. They often show disrespect to teachers and other pupils in the school. They will speak to a teacher as a "mini-adult" and as if they are on the "same level" as the teacher. They will terminate friendships if the friend does not do exactly what they want them to do. They have huge difficulty allowing other peers to have autonomy and to take control of interactions. Pinching and biting is common in preschool. They may make up their own social rules in school. Going under the desk at school is very common as a sensory avoidance, as is putting their head on the school desk. Because of their lack of social skills, they commonly, as children or adolescents, show oppositional defiant behaviour, which at times can be the biggest challenge for parents and teachers with them often losing temper, often arguing with adults, often being defiant, often being angry with adults, often being touchy and easily annoyed and being spiteful and vindictive, with a comorbid diagnosis for oppositional defiant disorder. This is often because of their empathy deficits and theory of mind deficits. They are often very controlling and dominating, which causes major problems at home and school. They always have to win. They have great difficulty in understanding the rules of a social game and particularly difficulty in engaging in group sports, which they do very rarely anyhow. Sports have formal rules, but also unwritten rules, that is, what they can get away with. This is why referees are necessary. They may be over-rigid in following the rules, and this causes major difficulties in social behaviour.

They often have very little sense of danger about roads, or strangers, or in school and particularly dangerous social situations. As they get older, they will often engage in school refusal and isolate themselves in their room on their computers. While some may only want to play with the opposite sex, or get on better with the opposite sex, others have a hatred of the opposite sex. They can sometimes relate reasonably well to siblings or family members or survive in school when looked after by a sibling, but others can be vicious and dangerous to their siblings.  Excessive and inappropriate sharing of their thoughts about self and others is common and can cause them to be bullied. They are often the "class clown" as a way of getting attention, and this can be very disruptive in school. In the school class, they will often shout out answers and have difficulty with timing, because of their social communication difficulties. Sometimes they will want to answer every question in the classroom, which causes problems in the classroom and for teachers. Children with autism can control their abnormal social behaviour in school with massive and exhausting effort, but only to "explode" at home with temper tantrums and oppositional defiant behaviour later in the evening. Some with very high IQs may find some other cognitive strategies to help them survive at school.

## **4. Transitional object and autism**

**2. Social deficits**

16 Autism - Paradigms, Recent Research and Clinical Applications

elsewhere.

emotion.

relationships at work.

**3. School and college years**

When professionals meet families with autism, they often very quickly become aware of how very clingy to one parent the child with autism is, with a fear of groups but being less anxious in a one-to-one situation, particularly with adults or having one "friend". In groups only relating to one person is common, often to the point of fixation, making inappropriate comments is extremely common to peers and adults, for example, saying to a doctor, "you are very trendy".  When they come in to a doctor or examiner's officer, they will often sit on the "parent's chair" or alternatively sit away at the furthest

They often will hold mother's face roughly to get her to look straight at them. In communication, they will often look past people and have reduced eye contact in consultation and

One parent often describes themselves as loners and good mixers at the very same time. They mean that sometimes they are loners and sometimes they are good mixers, but do not and cannot come down on either side. Ambivalence and inability to make up their minds on emotional matters are extremely common. One parent often emphasises their private time, while saying they are sociable. Children with autism can engage in extreme interpersonal aggression, but less degrees of interpersonal aggression are very common. Children, when they engage in rough play, will cause considerable upset at school and home and can include attempts to choke other children. These children with autism experience a great deal of suspicion and paranoid thoughts of people and feel people are against them, talking about them, and not liking them. They are extremely sensitive to highly expressed

In the marital situation, you often find a change in roles where the wife will go out to work and the husband will become a house-husband. The house-husbands will very often have autistic traits, if not autism. Being unemployed will not be rare in persons with autism or Asperger's syndrome. This is the default position from the stress of work and interpersonal

Girls (and to a lesser extent boys) with autism may live their lives one second after others around them and will copy the behaviour of people around them one second later and then hide their autism. The paradox is that persons with autism can be profoundly observant. This can lead to "as if" or chameleon-like personalities "hide" and "hide" their autism in this way.

For young children, biting and kicking is fairly common in preschool and at home. They often show disrespect to teachers and other pupils in the school. They will speak to a teacher as a "mini-adult" and as if they are on the "same level" as the teacher. They will terminate

point from the examiner, in the room. Extreme positions are very common.

Comfort blankets, teddy bears, etc., are very commonly carried around by children with autism. Winnicott [5] mistakenly called these transitional objects. They have nothing to do with child development in the Winnicottian sense, but everything to do with comfort, anxiety reduction, preservation of sameness and sensory issues. This is an example of psychoanalysis over-complicating simple and obvious phenomena.

## **5. Emotional and cognitive problems**

Problems understanding their own and others' emotions are very common and probably universal. They often do not understand depression and ask, "What is the depression?" When asked whether they are happy or sad, they will say, "both happy and sad" or "I don't know". They often have low capacity for emotional expression and great difficulty in expressing emotions, including feelings and thoughts. Sometimes they want to give the absolutely correct answer, and there is therefore a great delay in answering a question. In a public intervention situation, they can therefore give the impression of not cooperating. They are often either fearless, show evidence of serious risk taking, or the opposite, huge fear, anxiety and panic. Autistic novelty seeking can also be seen [6]. They often also showed generalised anxiety.

#### **6. Language**

They will commonly be delayed in language, but will begin to speak in full sentences when they do begin to speak. Imitating accents is very common, particularly accents the child with autism will hear on television. They will often imitate these extremely accurately, and this will be noted as being different from neuro-typical children. Irish children will often be described as having an American accent, or a posh English accent, or an unusual tone to their accent. Small children often have a soulful or plaintive cry, which can be a most disturbing cry to listen to and it can go on for many hours. They often use a "babyish" immature voice at any age. Older persons with autism can have marvellous sense of verbal humour [7], playing on words, etc. They will often change their accent to suit their situation or copy the accent of the person they are talking to. They engage in a great deal of talking to themselves–self-talk. This is an effort to sort out emotionally cognitive puzzles and experience. Some children will often speak like adults, another reversal. They may engage in repetitive questioning and always want the questions answered exactly the same way. Some of the children will have a very high-pitch tone of voice, others low-pitched, other a monotonous tone.

They will sometimes pronounce every word accurately. They mostly have difficulty doing personal, emotional writing in the social sense. The autistic narrative will not give people a sense of social context. This is being called autistic narrative [8], seen in autobiographies of persons with autism. They are often obsessed with words, language and numbers. They will express too much, which is inappropriate sharing of personal thoughts. There will often engage in sub-vocal talking and singing. They pick up accents very rapidly. They very commonly answer questions with "I don't know". They will be very hesitant in answering questions, and it will take a long time for them to answer the questions. Loss of language or babble and words in the first 2 years does occur, not uncommonly. Sometimes the loss can even occur into the third year.

While most are extremely truthful and indeed, inappropriately truthful in social areas, a number can make up stories have a fantastic imagination and can fabricate false stories about parents. This is due to the difficulty of separating fact from fiction in their minds. Often their conversation is not very coherent, difficult to understand, which leads to misdiagnosis of thought disorder and schizophrenia. They often ask, "What's going to happen next?" They often make up words or their own language … neologisms. If something is spoken about as going to happen, then it must happen at exactly the time it was spoken about.

Parents with autism and very high IQ can use language to camouflage their symptoms, which leads to later diagnosis.

## **7. Identity**

**5. Emotional and cognitive problems**

18 Autism - Paradigms, Recent Research and Clinical Applications

generalised anxiety.

**6. Language**

into the third year.

Problems understanding their own and others' emotions are very common and probably universal. They often do not understand depression and ask, "What is the depression?" When asked whether they are happy or sad, they will say, "both happy and sad" or "I don't know". They often have low capacity for emotional expression and great difficulty in expressing emotions, including feelings and thoughts. Sometimes they want to give the absolutely correct answer, and there is therefore a great delay in answering a question. In a public intervention situation, they can therefore give the impression of not cooperating. They are often either fearless, show evidence of serious risk taking, or the opposite, huge fear, anxiety and panic. Autistic novelty seeking can also be seen [6]. They often also showed

They will commonly be delayed in language, but will begin to speak in full sentences when they do begin to speak. Imitating accents is very common, particularly accents the child with autism will hear on television. They will often imitate these extremely accurately, and this will be noted as being different from neuro-typical children. Irish children will often be described as having an American accent, or a posh English accent, or an unusual tone to their accent. Small children often have a soulful or plaintive cry, which can be a most disturbing cry to listen to and it can go on for many hours. They often use a "babyish" immature voice at any age. Older persons with autism can have marvellous sense of verbal humour [7], playing on words, etc. They will often change their accent to suit their situation or copy the accent of the person they are talking to. They engage in a great deal of talking to themselves–self-talk. This is an effort to sort out emotionally cognitive puzzles and experience. Some children will often speak like adults, another reversal. They may engage in repetitive questioning and always want the questions answered exactly the same way. Some of the children will have a very

They will sometimes pronounce every word accurately. They mostly have difficulty doing personal, emotional writing in the social sense. The autistic narrative will not give people a sense of social context. This is being called autistic narrative [8], seen in autobiographies of persons with autism. They are often obsessed with words, language and numbers. They will express too much, which is inappropriate sharing of personal thoughts. There will often engage in sub-vocal talking and singing. They pick up accents very rapidly. They very commonly answer questions with "I don't know". They will be very hesitant in answering questions, and it will take a long time for them to answer the questions. Loss of language or babble and words in the first 2 years does occur, not uncommonly. Sometimes the loss can even occur

While most are extremely truthful and indeed, inappropriately truthful in social areas, a number can make up stories have a fantastic imagination and can fabricate false stories about parents. This is due to the difficulty of separating fact from fiction in their minds. Often their

high-pitch tone of voice, others low-pitched, other a monotonous tone.

Identity diffusion is central to autism, and this will include their sexual and other identities. This is probably due to the neural connectivity problems in the brain [9]. Contradictory identities can exist side by side in their mind. They can switch to another and opposite identity very rapidly. This can be confused with so-called multiple personalities. This identity diffusion can cause stress in making decisions and in employment, and despite intelligence and good education, they may withdraw and cease to seek employment. They can confuse people with these contradictory identities. They do not have a clear sense of themselves and people find it difficult to understand them. This makes it very difficult for them to have a clear sense of other people. This increases interpersonal stress. They are often mistaken for the opposite sex and come across as being androgynous. Males can appear to have a soft female facies and females with a somewhat harder male facies. They may dress more like the opposite sex, which always causes confusion and shows signs of gender dysphoria. A small number will have transgender problems. Sometimes they feel unreal and de-personalised as living in a film and having an "as if" personality. Older adolescents with autism or Asperger's syndrome often appear to be "asexual". This can be very deceptive as the very same people can get involved in perverse, dangerous sexual activities.

## **8. Sensory problems in autism are almost universal**

The sounds that cause major difficulties include the sound of a hoover or babies crying. This can be extremely upsetting and on rare occasions, put the crying baby at risk of violence from the persons with ASD. There were always contradictory findings in the sense that I have seen a child with ASD who loved the sound of hoovers. They often smell everything, are extremely sensitive to the texture of food and do not want different foods touching on the plate. They often find haircuts extremely upsetting and will wear their clothes inside out, because of sensory issues, to avoid clothes tags on their skin. Others will put everything in their mouth for sensory reasons, including towels. They often chew their clothes. Often they are not bothered by their own noise but bothered by the same noise created by someone else, which is contradictory.

They can overeat because of difficulty knowing when they have eaten enough/satiety. This may be due to the sensory issues in the gut, which doesn't tell them that they have sufficient food eaten. This requires empirical research. They often find the visual very stimulating and are fascinated by lights, by pictures and by spinning objects. Some are the opposite and are hyposensitive in relation to pain or hypersensitive, another contradiction.

## **9. Narrow interests**

They are often very interested in nature, with gardens, with dogs, animals, sharks, horses, bugs, etc. Other and possibly the most common of all interests now are computers, iPhones, iPads, computer games and technology in general. They love to take things apart and work out how things work. No wonder so many are attracted to engineering work. Making lists is very common.  Some are massive collectors. The younger children love turning pages of books, per se. Older children love reading them, particularly novels on science fiction, history, encyclopaedias, books of facts, or Egyptology, palaeontology, physics, science, cosmology, etc. Being talented at music or being interested in music is quite common. Some are fascinated by younger children. They are often preoccupied with just one person. Others are obsessed with time, and of course Albert Einstein had autism [10] and was obsessed with time. At Christmas time, they can be fascinated with Christmas trees. Other fascinations include guns [11], ammunition, horror movies, violent movies and the topic of death. They are often preoccupied with their own and their parents' death. In rare cases, they can be very interested in serial killers [11] and a tiny number can engage in so-called mindless violence.

They are very easily led and can easily be led into criminal activities. They often love to push buttons, switch on and off lights, open and close doors.

Sometimes they will not change their clothes and wear the same clothes every day. They may fixate on a television character or a teacher. Girls will often have no interest in dolls. Boys and girls often will have no interest in toys and be more interested in everyday objects and can find small things missing, where others would miss them, with their massive attention to detail.

## **10. Physical issues**

They often have low immune system and are highly prone to infections, particularly ear infections. Delayed toilet training is very common. Parents will often tell you the child had pyloric stenosis, hiatus hernia, difficulties feeding (poor eating, fussy eating), and swallowing, "was a colicky baby", or had eczema. Hypermobility of the joints and muscles is very common. They often somatise their problems and present with unexplained physical illness, or Alexithymia [12], which often occurs with Asperger's syndrome. Cerebral palsy and a vast number of chromosomal abnormalities occur. Many brain abnormalities can be presented, including agenesis of the corpus callosum or optic nerve hypoplasia. Clearly, these last two conditions would be extremely rare.  It would be interesting to measure the head circumference in utero. These children are often very tall for their age, and indeed, I have also noticed parents being equally tall. They can be confused with Marfan's syndrome.

## **11. Motor issues**

are fascinated by lights, by pictures and by spinning objects. Some are the opposite and are

They are often very interested in nature, with gardens, with dogs, animals, sharks, horses, bugs, etc. Other and possibly the most common of all interests now are computers, iPhones, iPads, computer games and technology in general. They love to take things apart and work out how things work. No wonder so many are attracted to engineering work. Making lists is very common.  Some are massive collectors. The younger children love turning pages of books, per se. Older children love reading them, particularly novels on science fiction, history, encyclopaedias, books of facts, or Egyptology, palaeontology, physics, science, cosmology, etc. Being talented at music or being interested in music is quite common. Some are fascinated by younger children. They are often preoccupied with just one person. Others are obsessed with time, and of course Albert Einstein had autism [10] and was obsessed with time. At Christmas time, they can be fascinated with Christmas trees. Other fascinations include guns [11], ammunition, horror movies, violent movies and the topic of death. They are often preoccupied with their own and their parents' death. In rare cases, they can be very interested in serial killers [11] and a tiny

They are very easily led and can easily be led into criminal activities. They often love to push

Sometimes they will not change their clothes and wear the same clothes every day. They may fixate on a television character or a teacher. Girls will often have no interest in dolls. Boys and girls often will have no interest in toys and be more interested in everyday objects and can find small things missing, where others would miss them, with their massive attention to detail.

They often have low immune system and are highly prone to infections, particularly ear infections. Delayed toilet training is very common. Parents will often tell you the child had pyloric stenosis, hiatus hernia, difficulties feeding (poor eating, fussy eating), and swallowing, "was a colicky baby", or had eczema. Hypermobility of the joints and muscles is very common. They often somatise their problems and present with unexplained physical illness, or Alexithymia [12], which often occurs with Asperger's syndrome. Cerebral palsy and a vast number of chromosomal abnormalities occur. Many brain abnormalities can be presented, including agenesis of the corpus callosum or optic nerve hypoplasia. Clearly, these last two conditions would be extremely rare.  It would be interesting to measure the head circumference in utero. These children are often very tall for their age, and indeed, I have also noticed parents being

hyposensitive in relation to pain or hypersensitive, another contradiction.

number can engage in so-called mindless violence.

buttons, switch on and off lights, open and close doors.

equally tall. They can be confused with Marfan's syndrome.

**9. Narrow interests**

20 Autism - Paradigms, Recent Research and Clinical Applications

**10. Physical issues**

It was an error in DSM V [1] to leave out motor issues from the main criteria and only mention them as associated features. The most common features that a parent of an autistic child will mention are motor issues including tippy-toe walking and "bum-shuffling". They often describe the "combat crawl". They will talk about the child having never rolled over. Other mothers describe a "crabby crawl" and "walking on their knees". Other features include the child having "one leg out and one leg under him". Sometimes you see a stiff gait with the hands rigidly by the side of the body and a rigid tense body. There is hugely reduced nonverbal expression. Moving sideways through a door has also been a feature. Other parents say the autistic child never crawled, but just stood up. Some mothers describe their child as walking very carefully, while more commonly they describe their children as walking awkwardly. Another feature can be "crawling on the abdomen", as described by parents. Other features can be unusual motor movements with legs crossed and jumping up and down. Sometimes severe clenching of teeth is noted. In lower functioning children with autism, head-banging is not uncommon. There are parents describing their children as having clumsy walk or walking like a "monkey". Another description by a mother was of "frog-like crawling" or crawling backwards. Asymmetric movements of the body, pulling of one leg after the other, can be seen. Clinicians need to be much more attentive to motor issues in the broader autism phenotype.

## **12. Non-verbal behaviour**

Late smiling is noted or biting hands and rocking are common. The rocking can occur at any age. There is a huge amount of imitation and copying of others' non-verbal behaviour. Children and adults with autism can be brilliant at mimicking and very good at non-verbal humour, for example, slapstick humour [7]. Some will often stare inappropriately for a very long time or come excessively close and look at the other person in the face. They will often adopt the other person's attributes in an extreme way. Their dress can often lead to them being mistaken for a person of the opposite sex, which is probably due to their identity diffusion. Sleep problems are extremely common. They are often very tall, and this is one reason why a minority are therefore not bullied. They often wear, "rabbit type" uniforms, dress in a teddy bear outfit or of course nowadays, they will often have headphones to cut out noise. They can show a mixture of crying and laughing at the same time. Contradictory verbal and non-verbal behaviour is not uncommon. Clapping the hands when excited, flapping the hands and looking at things through the corner of their eyes are not uncommon.

## **13. Repetitive behaviour**

They will often prefer to play with cups or other objects, rather than toys. They often particularly put things in and out of boxes repetitively. They love switching on and off lights. Indeed, Sigmund Freud's (who had Asperger's Syndrome) grandson, Ernest Freud played with a reel and this could be seen as a repetitive autistic play. He threw the reel out and pulled it back in, in a repetitive way. Of course one feature does not give a diagnosis. They often love to calculate repetitively and can have massive memories.

## **14. Pregnancy and labour**

Extremely, commonly here are some complications in pregnancy and delivery which are very difficult to interpret and whether this has some special meaning or is just coincidence has to be resolved. Long labour and assistance with delivery are common. Emergency caesarean section, because of foetal distress, is very common. Other reasons for caesarean section can be a failure to go into labour or labour stopping in mid-point. Other causes can be a failure to dilate. Prolonged labour, cessation of labour or extremely quick labour are not uncommon. There seems to be increased rates of autism, when there is assisted reproduction. Other factors which include reduced amniotic fluid, placenta previa, breech or face presentation, shoulder presentation or other abnormal presentations are not uncommon. Multiple pregnancies can be associated. Other issues can be very stressful pregnancy, various drugs in pregnancy, or hyperemesis and pre-eclamptic toxaemia in mother. Of course, many of these features could be just coincidental.

## **15. Parents**

In terms of occupations, it's very common for one or both parents to be accountants, engineers, computer specialists, policemen, landscape gardeners, lorry drivers, mathematicians, scientists, engineers, butchers, soldiers, taxi drivers, stonemasons and painters. In more recent years, I've noticed fathers being unemployed as a more common feature. This may be due to them having autistic features and withdrawing from the work situation. "House-husbands" is becoming much more common as an occupation for fathers of children with autism.

## **16. Conclusion**

The concept of the autism spectrum disorder is now almost universally accepted. This chapter outlines the broader autism phenotype. The National Institute of Clinical Excellence (NICE) guidelines [13] recommend no specific instrument in the diagnosis of autism. Unfortunately, it is widely believed that there is one gold standard instrument for the diagnosis of autism, and this leads to many children on the spectrum being excluded from autism and from the autistic diagnosis, with great distress to the children themselves, to their families and the schools that they attend. This then excludes them from the specific autism services, and unfortunately, this happens in many parts of the world. The great array of autism instruments can be useful for information gathering, for new mental health professionals in the field. They do not give you a DSM diagnosis as outlined by the National Institute of Clinical Excellence guidelines. One of the instruments which are widely used in clinical practice which is quite appropriate for use in research is the ADI-R [14]. This has been widely criticised, for example, by the most experienced and distinguished professionals. An example is Professor Dorothy Bishop, Professor of Developmental Neuropsychology, University of Cambridge [15]. Professor Dorothy Bishop [15] states that, "the main problem with the ADI-R is not just the financial cost (although that is certainly prohibitive for many), but also the cost in time; time for training, time for administration and time for scoring and consensus coding", and "if it could be shown that there were real benefits in accuracy of diagnosis from adopting this lengthy procedure, then I'd be happy to say: "Ok, this is the best way forward and we just have to find a way to do it", but the originators of the instrument have never demonstrated that you actually need such a long process–it is really more an article of faith with them", and that, "part of the problem is that criteria for autism keep changing, and cut-offs are entirely arbitrary. I personally think we'd be better off with a dimensional, rather than categorical, conceptualisation of autism–that is, one with a measure that gave a quantitative index of level of autism symptoms on different dimensions" [15].

in a repetitive way. Of course one feature does not give a diagnosis. They often love to calcu-

Extremely, commonly here are some complications in pregnancy and delivery which are very difficult to interpret and whether this has some special meaning or is just coincidence has to be resolved. Long labour and assistance with delivery are common. Emergency caesarean section, because of foetal distress, is very common. Other reasons for caesarean section can be a failure to go into labour or labour stopping in mid-point. Other causes can be a failure to dilate. Prolonged labour, cessation of labour or extremely quick labour are not uncommon. There seems to be increased rates of autism, when there is assisted reproduction. Other factors which include reduced amniotic fluid, placenta previa, breech or face presentation, shoulder presentation or other abnormal presentations are not uncommon. Multiple pregnancies can be associated. Other issues can be very stressful pregnancy, various drugs in pregnancy, or hyperemesis and pre-eclamptic toxaemia in mother. Of course, many of these features could

In terms of occupations, it's very common for one or both parents to be accountants, engineers, computer specialists, policemen, landscape gardeners, lorry drivers, mathematicians, scientists, engineers, butchers, soldiers, taxi drivers, stonemasons and painters. In more recent years, I've noticed fathers being unemployed as a more common feature. This may be due to them having autistic features and withdrawing from the work situation. "House-husbands" is becoming much more common as an occupation for fathers of children with autism.

The concept of the autism spectrum disorder is now almost universally accepted. This chapter outlines the broader autism phenotype. The National Institute of Clinical Excellence (NICE) guidelines [13] recommend no specific instrument in the diagnosis of autism. Unfortunately, it is widely believed that there is one gold standard instrument for the diagnosis of autism, and this leads to many children on the spectrum being excluded from autism and from the autistic diagnosis, with great distress to the children themselves, to their families and the schools that they attend. This then excludes them from the specific autism services, and unfortunately, this happens in many parts of the world. The great array of autism instruments can be useful for information gathering, for new mental health professionals in the field. They do not give you a DSM diagnosis as outlined by the National Institute of Clinical Excellence guidelines. One of the instruments which are widely used in clinical practice which is quite appropriate for use in research is the ADI-R [14]. This has been widely criticised, for example, by the

late repetitively and can have massive memories.

22 Autism - Paradigms, Recent Research and Clinical Applications

**14. Pregnancy and labour**

be just coincidental.

**16. Conclusion**

**15. Parents**

Professor Bishop points out that there are "plenty of children who come out as meeting criteria on one instrument only, and there seem no sensible guidelines as to how you then proceed, other than to seek expert clinical opinion". The bottom line, she told me [Adam Feinstein], was that those devising the diagnostic instruments for autism "should be doing studies to see what is the minimum set of items you can have to get reasonable diagnostic accuracy". I doubt that we really need a three-hour interview for each case.

The International Meeting for Autism Research (IMFAR) was held in London in May 2008 [16] "where many of the most experienced and distinguished Autism Researchers in the world lambasted the tool for missing many cases of Autism".

This creates a public health problem, the missing of these persons with autism. This is especially so in countries that put excessive emphasis on clinical use of the ADI-R [14] for the diagnosis and particularly where the prevalence of autism as we know now is much greater than in the past. The Centres for Disease Control, (USA) 2016, put the prevalence of autism at 1 in 68, that is, 1 in 42 for boys and 1 in 189 for girls.

From a clinical perspective, the most serious problem facing the autism field is missing the diagnosis of autism in many situations. Unfortunately, the NICE guidelines are so often ignored.

Dr. Lorna Wing [17] used the concept of the autism spectrum disorder or the broader autism phenotype which is accepted by clinicians in most parts of the world today and forms the basis of autism in the DSM V and also in the proposed criteria for ICD XI to be published in the next few years. Unfortunately, a few practitioners are still using very narrow criteria. This is a problem as I've shown myself that when you use criteria like Kanner and Eisenberg [18] for autism, one gets very low rates. Fitzgerald showed that using the same patients, the prevalence of autism varied in a total sample of possible autism patients of 309, with 85%, (256), meeting the DSM III/R criteria to 8% using Kanner and Eisenberg's criteria [18]. Professor G. Baird's study from the Lancet [19] gave a prevalence of 116.1 per 10,000 [20], and Professor Simon Baron-Cohen's study from Cambridge in the British Journal of Psychiatry (BJP) put the prevalence at 157 per 10,000.

I hope that this chapter will make the reader aware of the dangers of a narrow concept of autism and the severely negative consequences for children being excluded from a diagnosis of autism, which means they are excluded from services. Everyone in the field agrees the critical importance of early diagnosis and early treatment, and these children have a better outcome. Children deserve nothing less.

## **Author details**

Michael Fitzgerald

Address all correspondence to<EMAIL_ADDRESS>
Clinical Psychiatry, Trinity College Dublin, Ireland

#### **References**

I hope that this chapter will make the reader aware of the dangers of a narrow concept of autism and the severely negative consequences for children being excluded from a diagnosis of autism, which means they are excluded from services. Everyone in the field agrees the critical importance of early diagnosis and early treatment, and these children have a better

[1] Diagnostic and Statistical Manual of Mental Disorders (2013): DSM V. Washington:

[2] Kanner L. (1943): Autistic disturbances of affective contact. Nervous Child 2, 217–250.

[3] Asperger H. (1938): Das Psychisch Abnormale Kind. Wiener Klinischen Wochenzeitschrift

[4] Asperger H. (1944): Die "Autischen Psychopathen" Im Kindesalter. Archiv. Fur Psychietrie und Nervenkrankheiten 17, 76–136 (Autistic Psychopathy in Childhood. Trans. Uta Frith. In Frith U. (1991) Autism and Asperger's Syndrome), Cambridge:

[5] Winnicott D.W. (1958): Collected papers through paediatrics to psychoanalysis. London:

[6] Fitzgerald M. (2008): ADHD, creativity, novelty seeking & risk. New York: Nova Science. [7] Lyons V., Fitzgerald M. (2004): Humour in Asperger's syndrome. Journal of Autism

[9] Casanova M., Switla A., Trippe J., Fitzgerald M. (2007): Comparative mini columnar

[10] Fitzgerald M. (2000): Einstein: brain and behaviour. Journal of Autism Developmental

[11] Fitzgerald M. (2000): Young, violent and dangerous to know. New York: Nova Science.

outcome. Children deserve nothing less.

24 Autism - Paradigms, Recent Research and Clinical Applications

Address all correspondence to<EMAIL_ADDRESS>
Clinical Psychiatry, Trinity College Dublin, Ireland

American Psychiatric Association.

Cambridge University Press.

Developmental Disorders 34(5), 521–531.

[8] Fitzgerald M. (2004): Autism & creativity. New York: Routledgey.

morphometry of three distinguished scientists. Autism 11(6), 557–569.

**Author details**

Michael Fitzgerald

**References**

51, 1314–1317.

Tavistock.

Disorder 6, 620–621.

**Correlates of Autism Disorder**

## **Chapter 3**

**Provisional chapter**

## **Sex Bias in Autism Sex Bias in Autism**

Felwah S. Al-Zaid Felwah S. Al-Zaid

Additional information is available at the end of the chapter Additional information is available at the end of the chapter

http://dx.doi.org/10.5772/67402

#### **Abstract**

Autism is a neurodevelopmental disorder with unknown exact etiology. Interestingly, it affects males more than females in a striking ratio (4:1), respectively.   Theories regarding the biased sex ratio in autism have been raised, and some have been supported by evidence from human studies. Furthermore, sex-linked genetic dysregulation has also been reported in autism. In this chapter, an overview of what is known about sex bias in autism is reviewed, emphasizing the importance of carrying on in uncoding the sex bias in autism.

**Keywords:** autism, androgens, digit ratio, RORA gene, X chromosome

## **1. Introduction**

The exact etiology of autism is unknown and no single cause has been identified yet, but the disease is highly heritable and the heterogeneity in clinical presentation is thought to be due to different etiologies, complicates genetic and molecular analysis [1]. The studies strongly suggest a genetic basis of the disease with a complex mode of inheritance. However, autism occurs more in boys than girls in a 4:1 male to female ratio [2]. This bias toward the male gender caught the scientist's attention to search about the factors that are sex linked or gender specific.

## **2.  Male brain has

a larger cerebrum than female brain, and more white matter than gray matter, respectively [3, 4]. Despite the larger total volume of white matter in men, the ratio of corpus callosum to total cerebral volume is smaller in them [4]. This ratio is consistent with the finding that the increased size of the brain predicts decreased interhemispheric connectivity [5] and that larger brain comes with smaller corpus callosum [6]. Moreover, the male amygdala experiences an extended period of growth during childhood and men have a larger amygdala compared to women.

Physiologically, and consistent with the above-mentioned observations, the language-related activation in female brain is more bilateral, suggesting a greater interhemispheric connectivity in females than males [10–12]. This sexual dimorphism of brain structure maybe related to sex chromosomes, hormonal effects, and environmental factors or as a result of a combination of all these factors. These morphological differences have a profound effect on brain physiology and substantiate one of the main hypotheses for etiology of autism as it will be discussed later.

## **3.  For more understanding of the role of sex hormones in brain development, scientists have divided its actions into prenatal and postnatal effects and described it via two main distinct mechanisms.

In the prenatal period, a very critical period of brain development especially in the first trimester, sex hormones have a permanent organizational effect.  On the other hand, in the postnatal period, sex hormones have a transient activational effect. Activation mechanism is defined as the acute effect of gonadal hormones on the fully developed nervous system, and it is responsible for maintaining sex specific behaviors in adulthood; it is not permanent and is associated with changes in sex hormones levels, for example, hormonal changes during menstrual cycle [13, 14]. Most studies about organizational effect of sex steroids focused on the role played by androgens in masculinization of the brain, while little is known about the feminization of the brain, which was though initially to be a passive process that occurs in the absence of high levels of androgens. However, a growing recognition that it might be induced through early postnatal estrogens, although the exact mechanisms remain unclear [14].

## **4. Androgens**

a larger cerebrum than female brain, and more white matter than gray matter, respectively [3, 4]. Despite the larger total volume of white matter in men, the ratio of corpus callosum to total cerebral volume is smaller in them [4]. This ratio is consistent with the finding that the increased size of the brain predicts decreased interhemispheric connectivity [5] and that larger brain comes with smaller corpus callosum [6]. Moreover, the male amygdala experiences an extended period of growth during childhood and men have a larger amygdala com-

At micro-architectural level, male cerebral cortex has more neurons than that of female's and those neurons are densely packed with the exception of some areas of the brain [7]. This dense packing of neurons in male brain is associated with more intrahemispheric white matter projecting from these neurons suggesting, indirectly, a pattern of increased local connectivity and

Physiologically, and consistent with the above-mentioned observations, the language-related activation in female brain is more bilateral, suggesting a greater interhemispheric connectivity in females than males [10–12]. This sexual dimorphism of brain structure maybe related to sex chromosomes, hormonal effects, and environmental factors or as a result of a combination of all these factors.  For more understanding of the role of sex hormones in brain development, scientists have divided its actions into prenatal and postnatal

In the prenatal period, a very critical period of brain development especially in the first trimester, sex hormones have a permanent organizational effect.  On the other hand, in the postnatal period, sex hormones have a transient activational effect. Activation mechanism is defined as the acute effect of gonadal hormones on the fully developed nervous system, and it is responsible for maintaining sex specific behaviors in adulthood; it is not permanent and is associated with changes in sex hormones levels, for example, hormonal changes during menstrual cycle [13, 14]. Most studies about organizational effect of sex steroids focused on the role played by androgens in masculinization of the brain, while little is known about the feminization of the brain, which was though initially to be a passive process that occurs in the absence of high levels of androgens. However, a growing recognition that it might be induced through early postnatal

decreased interhemispheric connectivity in the male brain [8, 9].

30 Autism - Paradigms, Recent Research and Clinical Applications

**3. Role of sex hormones in developing brain**

effects and described it via two main distinct mechanisms.

estrogens, although the exact mechanisms remain unclear [14].

pared to women.

discussed later.

Androgens are steroid hormones, principally testosterone and 5α-dihydrotestosterone, synthesized and secreted into the blood stream in the form of testosterone. Once testosterone reaches its target tissues, it is either metabolized by an aromatase into estradiol, which performs its action by binding to estrogen receptors (ERα, ERβ or GPER) or metabolized by 5α-reductase into dihydrotestosterone (DHT) in majority of the male sexual organs. Testosterone can perform direct actions prior to any metabolic processing via binding to androgen receptors (ARs), a member of nuclear receptor super family. Once it binds to its receptors, AR enters the nucleus, binds the DNA and affects the transcription. Binding of estradiol to its receptors affects the transcription similarly.

During the male life, testosterone has three surges; the first is mediated via fetal testosterone (fT) between 4 and 6 weeks of gestation, which can almost reach pubertal levels. This early surge results in genitalia masculinization and sex dimorphic brain development in the mean of cell proliferation, death, migration, and synaptic formation [15]. The second surge occurs soon after birth called neonatal testosterone (nT) and drops by 4–6 months, during this surge, testosterone reaches pubertal levels and was found to be linked to gender-related typical and atypical behaviors and also contributes to normal growth of male-external genitalia [16]. The third surge is the pubertal one.

Testosterone is essential for the development of male secondary sexual characteristics, for general well-being, prevention of osteoporosis, and it has a direct effect on muscle development. It can easily cross the blood brain barrier and bind to AR, which are expressed in the cerebral cortex, cerebellum, mediobasal hypothalamus, amygdala, corpus callosum, and cingulate cortex [17, 18].

Testosterone in the brain was shown to affect the development of neurons as it prevents apoptosis, influences the neuronal connectivity, and alters the neurochemical profile. Both estradiol and testosterone modulate seretonergic and γ-aminobutyric acid neurotransmission. They increase the dendritic spines through the brain derived neurotropic factor-5 [18].

DHEA and its DHEA-S are known as neurosteroids as they can undergo *de novo* synthesis in the CNS [19], but in humans, the blood represents the main source of DHEA and DHEA-S in the brain. Brain DHEA-S potentiates the action of glutamate and enhances the depolarization and calcium ion entry [20]. Interestingly, DHEA-S acts as antiglucocorticoid as it antagonizes the immunosuppressant and lympholytic actions of cortisol [21]. Subsequently, DHEA protects the hippocampus from the neurotoxic effect of glutamate analog and corticoids [22].

## **5. Sex-related theories of autism**

Autism is a disease of male gender as the male to female ratio is 4:1 [23]. This bias toward the males served as a clue to search for a link between the gender and etiology of autism. The clinical manifestation of the disease created many hypotheses that support this sexlinked relationship. The theories focusing on the sex ratio include the extreme male brain theory (EMB) of autism, which is an extension of the empathizing systemizing theory (E-S) and it links autism to prenatal exposure to high fetal testosterone [24]. The other theory is the X-linked imprinting theory of autism, which proposes the vulnerability of male to autism based on the fact that males have a single X chromosome [25].

## **6.  This bias toward the males served as a clue to search for a link between the gender and etiology of autism. The clinical manifestation of the disease created many hypotheses that support this sex-linked relationship.

E-S theory supported the clinical presentation of the disease and its strong association with the male gender. This theory proposed that females have stronger empathizing, which reflects the ability to identify the other mental status and respond to it with appropriate emotions. On the other hand, systemizing that is stronger in males reflects the drive to analyze a system in term of rules that govern the system [17]. A further extension of the E-S theory of autism is the EMB, which was proposed by Hans Asperger more than 60 years ago. EMB encodes that based on the E-S theory, females are stronger in sympathizing and males are stronger in systemizing, and thus, autism can be considered as an extreme of the normal male profile [24].  Changes in normal brain anatomy have been established in children with autism. They have a larger than average head, which contains abnormally large brain. Cerebral cortex is enlarged with more white matter than the gray matter in autistics. Moreover, they have a greater growth of amygdala.  Studies in humans showed that prenatal exposure to high levels of fetal testosterone resulted in masculinization of the brain. This was first observed in girls with congenital adrenal hyperplasia (CAH), a congenital condition associated with abnormally high level of testosterone. Those girls showed autistic behavioral manifestations [27]. This observation led scientists to hypothesize that one cause of autism is a prenatal exposure to high levels of fetal testosterone.

Consistently, the Cambridge Fetal Testosterone project, in which a correlation between prenatal testosterone exposure and the development of behaviors related to autism was directly investigated, demonstrated an association between fetal testosterone, measured in women who had amniocentesis for other reasons, and the development of autistic traits in their children. Baron-Cohen and his colleagues had recently provided the first direct evidence of elevated fetal steroidogenic activity in autism through their longitudinal study [27, 28]. Moreover, this relationship was observed in both boys and girls denoting that this effect is due to the fetal testosterone rather than the sex of the child per se.

## **7. The X-linked imprinting theory of autism**

The clinical manifestation of the disease created many hypotheses that support this sexlinked relationship. The theories focusing on the sex ratio include the extreme male brain theory (EMB) of autism, which is an extension of the empathizing systemizing theory (E-S) and it links autism to prenatal exposure to high fetal testosterone [24]. The other theory is the X-linked imprinting theory of autism, which proposes the vulnerability of male to

Autism is a disease of male gender as the male to female ratio is 4:1 [23]. This bias toward the males served as a clue to search for a link between the gender and etiology of autism. The clinical manifestation of the disease created many hypotheses that support this sex-linked relationship.

E-S theory supported the clinical presentation of the disease and its strong association with the male gender. This theory proposed that females have stronger empathizing, which reflects the ability to identify the other mental status and respond to it with appropriate emotions. On the other hand, systemizing that is stronger in males reflects the drive to analyze a system in term of rules that govern the system [17]. A further extension of the E-S theory of autism is the EMB, which was proposed by Hans Asperger more than 60 years ago. EMB encodes that based on the E-S theory, females are stronger in sympathizing and males are stronger in systemizing, and thus, autism can be considered as an extreme of the normal male profile [24].  Changes in normal brain anatomy have been established in children with autism. They have a larger than average head, which contains abnormally large brain. Cerebral cortex is enlarged with more white matter than the gray matter in autistics. Moreover, they have a greater growth of amygdala.  Studies in humans showed that prenatal exposure to high levels of fetal testosterone resulted in masculinization of the brain. This was first observed in girls with congenital adrenal hyperplasia (CAH), a congenital condition associated with abnormally high level of testosterone. Those girls showed autistic behavioral manifestations [27]. This observation led scientists to hypothesize that one cause of autism is a prenatal exposure to high levels of

Consistently, the Cambridge Fetal Testosterone project, in which a correlation between prenatal testosterone exposure and the development of behaviors related to autism was directly investigated, demonstrated an association between fetal testosterone, measured in women who had amniocentesis for other reasons, and the development of autistic traits in their children. Baron-Cohen and his colleagues had recently provided the first direct evidence of elevated fetal steroidogenic activity in autism through their longitudinal study [27, 28]. Moreover, this relationship was observed in both boys and girls denoting that this

effect is due to the fetal testosterone rather than the sex of the child per se.

autism based on the fact that males have a single X chromosome [25].

**6. The extreme male brain theory (EMB) of autism**

32 Autism - Paradigms, Recent Research and Clinical Applications

fetal testosterone.

Many clinical observations related to autism epidemiology raised the interest in finding a link between disease etiology and genetic mechanism. Strong familiarlity and the higher incidence in siblings with a 3–5% recurrence rate (which accounts for 50–100-fold increase in autism risk compared to the general population) are among the main factors that suggested genetic basis for autism [29]. Moreover, the incidence of autism was found to be increased in monozygotic twins (60%), which indicate a strong genetic influence [30]. Epidemiological studies also found male relatives to male and female autistics to be affected more than female relatives. Accordingly, are females protected by a genetic mechanism? The X-linked imprinted hypothesis, hypothesize that, "the threshold for phenotypic expression of many autism related characteristics is influenced by an imprinted X-linked gene(s) that is protective in nature [25]. Imprinted genes are genes that are exclusively expressed from one parent (one allele only is expressed) [31]. They are known to play an important role in growth and development. Moreover, they affect neurodevelopment, brain function, and behavior [32, 33]. In case of the X-linked imprinted gene theory, the gene is expressed only on the X chromosome that is inherited from the father. Subsequently, as only females can carry paternal X chromosome, the threshold for phenotypic expression is higher in them compared to male [25].

## **8. Hyperandrogenism in autism**

In the light of EMB theory of autism, numerous studies were conducted to investigate postnatal testosterone levels in autistic children. Although it has been demonstrated by some studies that children with autism have significantly elevated androgen levels [34, 35], other studies by Tordjman et al. [36] and Lutchmaya et al. [37] have not found significant differences in testosterone levels in autism. Moreover, postpubertal androgen levels were found to be lower than controls in autistic children [38]. We investigated the role of androgens in Saudi autistic children and our findings demonstrated a significant elevation of both total testosterone, which was increased by 53% in autism and free testosterone, which was 238% higher in autistic children, without significant differences in the sex hormone binding globulin (SHBG) levels between autistic group and control group. The significant increase of free testosterone in a magnitude higher than that of total testosterone is explained by the lack of concomitant increase in SHBG. Both total testosterone and free testosterone were positively and strongly correlated with each other and both of which had a positive strong correlation with DHEA, which was also significantly elevated in autistic children by 50% suggesting an adrenal source of the elevated androgens [35]. Significant elevation of those androgens has been reported in American autistic children in comparison with laboratory reference values by Geier's study, which reported 158% increase in total testosterone, 214% increase in serum free testosterone, and 192% increase in DHEA [34]. On the other hand, Croonenberghs and his colleagues reported a significantly lower testosterone levels in autistic children (12–18 years of age) compared to their age matched controls. This report does not conflict with the results of Geier's and Al-Zaid study for two reasons, first, the age group included in Croonenberghs's study was postpubertal, and second, the decrease in testosterone level in this age group was explained by a greater negative feedback at the hypothalamic level. The preoptic region in the hypothalamic nucleus is androgen sensitive, and it is 2.5 times larger in males. The prenatal growth of this region is strongly determined by the presence of testosterone. Subsequently, too much testosterone early in life could influence androgen receptors or its sensitivity in this region. At a later age, namely during puberty, this could cause a negative feedback resulting in lower testosterone concentrations [38]. On the other hand, Tordjman et al. [36] and Lutchmaya et al. [37] reported a non-significant difference in testosterone level between autism group and their age matched control. However, it is important to note a significant limitation in the Tordjman's study, which was the remarkable heterogeneity in subjects involved in the study as it included prepubertal and postpubertal subjects.

In addition, high testosterone level in children was found to be associated with moodiness, low attachment, and low sociability in prepubertal ages [39], which are common observations in autistic children [40]. Interestingly, the main source of the elevated intrauterine fetal testosterone is not from maternal source, but it is from the fetus itself [14]; this suggests a genetic underlying problem in the fetus and also suggests that it is a lifelong condition. Moreover, the reported observation of low 2nd:4th digit ratio is not only in autistic children, but it is in their siblings and parents [41] suggesting also a genetic connection with autism. The genetic involvement of androgen dysregulation in autism has been reported, in a recent study, which linked a polymorphism in androgen receptor gene (SRD5A2) to autism in Slovak autistic children [42]. More recently, the discovered dysregulation of RORA gene in autism and its influence on the aromatase enzyme, a key regulator for sex hormone biosynthesis pathway, provides a possible broader explanation for the link between autism and hyperandrogenism [2]. Another explanation for the elevated androgens in autistic children was suggested by Geier and his colleagues who reported a significant abnormality in the DHEA synthesis pathway in autistic children. Normally, DHEA can either be converted into the storage molecule, dehydroepiandrosterone sulfate (DHEA-S), or into testosterone. In patients with autism, a decrease in transsulfuration metabolites was observed, resulting in a marked shift toward DHEA with a decrease in DHEA-S production and subsequent increase in testosterone [34] (**Figure 1**).

**Figure 1.** The potential interactions between the transsulfuration and androgen pathway in autism [34].

## **9. The 2nd:4th digit ratio as a promising screening tool in autism**

decrease in testosterone level in this age group was explained by a greater negative feedback at the hypothalamic level. The preoptic region in the hypothalamic nucleus is androgen sensitive, and it is 2.5 times larger in males. The prenatal growth of this region is strongly determined by the presence of testosterone. Subsequently, too much testosterone early in life could influence androgen receptors or its sensitivity in this region. At a later age, namely during puberty, this could cause a negative feedback resulting in lower testosterone concentrations [38]. On the other hand, Tordjman et al. [36] and Lutchmaya et al. [37] reported a non-significant difference in testosterone level between autism group and their age matched control. However, it is important to note a significant limitation in the Tordjman's study, which was the remarkable heterogeneity in

In addition, high testosterone level in children was found to be associated with moodiness, low attachment, and low sociability in prepubertal ages [39], which are common observations in autistic children [40]. Interestingly, the main source of the elevated intrauterine fetal testosterone is not from maternal source, but it is from the fetus itself [14]; this suggests a genetic underlying problem in the fetus and also suggests that it is a lifelong condition. Moreover, the reported observation of low 2nd:4th digit ratio is not only in autistic children, but it is in their siblings and parents [41] suggesting also a genetic connection with autism. The genetic involvement of androgen dysregulation in autism has been reported, in a recent study, which linked a polymorphism in androgen receptor gene (SRD5A2) to autism in Slovak autistic children [42]. More recently, the discovered dysregulation of RORA gene in autism and its influence on the aromatase enzyme, a key regulator for sex hormone biosynthesis pathway, provides a possible broader explanation for the link between autism and hyperandrogenism [2]. Another explanation for the elevated androgens in autistic children was suggested by Geier and his colleagues who reported a significant abnormality in the DHEA synthesis pathway in autistic children. Normally, DHEA can either be converted into the storage molecule, dehydroepiandrosterone sulfate (DHEA-S), or into testosterone. In patients with autism, a decrease in transsulfuration metabolites was observed, resulting in a marked shift toward DHEA with a decrease in

subjects involved in the study as it included prepubertal and postpubertal subjects.

34 Autism - Paradigms, Recent Research and Clinical Applications

DHEA-S production and subsequent increase in testosterone [34] (**Figure 1**).

**Figure 1.** The potential interactions between the transsulfuration and androgen pathway in autism [34].

The levels of androgens are not routinely assayed during pregnancy and direct measures of fetal testosterone concentrations are not usually available. To test the prenatal androgen theory of autism, indirect measures have been used in an attempt to investigate the consequences of fetal testosterone exposure. In 2001, Manning has proposed the 2nd:4th digit ratio as an indirect proxy to the prenatal androgen exposure. They studied the 2nd:4th digit ratio in 95 families with children diagnosed with autism and compared them to families with no autistic children. This study concluded that the highest 2nd:4th digit ratio was found in children without ASDs (autism spectrum disorders), lower in children with asperger syndrome and significantly lowest in children with autism [41]. We recently investigated the 2nd:4th digit in Saudi boys with autism and found it to be significantly lower in them compared to sex and age matched controls (**Figure 2**), and we concluded that 2nd:4th digit ratio could serve as a potential screening tool for autism [43]. This suggests that low 2nd:4th digit ratio is associated with an increased risk of autism. This finding is consistent with several other studies, which reported a lower ratio in British autistic patients [41], Thai patients [44] and Slovak patients [45]. A lower 2nd:4th digit ratio indicates the exposure of Saudi autistic children to high levels of fetal testosterone, as was substantiated by large amount of correlational evidence in both animal and human studies [46, 47]. Several theoretical observations may substantiate the connection between a lower 2nd:4th digit ratio and the increased fetal testosterone levels. First, the ratio is sexually dimorphic with males having a lower ratio compared to the females [48]. Second, the ratio is determined before birth, most probably by the 14th week of pregnancy, and it is not affected by later testosterone concentrations or fluctuations [46]. Third, the ratio was reported to correlate negatively with testosterone and positively with estradiol levels in adults [48]. Overall, this finding implicates increased fetal testosterone levels in the pathophysiology of autism.

**Figure 2.** Bar chart demonstrating the second to fourth digit ratio (2D:4D) in the Saudi boys with autism and age and sex matched controls [43].

The significantly elevated levels of androgens in Saudi autistic children together with the significantly lower 2nd:4th digit ratio are consistent with the fetal androgen and extreme male brain theories of autism [24].

## **10. Sibling sex ratio in autism**

It was hypothesized that the parental hormonal levels around the time of conception influence the sex ratios at birth [49]. Accordingly, high parental level of testosterone was suspected to be associated with the production of male offsprings.