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    ABC of Autism
    ABC of Autism
    ABC of Autism
    Ebook355 pages2 hours

    ABC of Autism

    By Munib Haroon

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    About this ebook

    ABC of Autism provides clinicians and medical students with a succinct, evidence-based overview of the symptoms, evaluation, treatment, and management of autism in both daily practice and for ongoing patient support plans. This accessible and informative guide allows primary healthcare professionals to quickly reference the essential information required for appropriate patient care.

    LanguageEnglish
    PublisherWiley
    Release dateJan 24, 2019
    ISBN9781119317227
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      ABC of Autism - Munib Haroon

      Contributors

      Dr Ruth Bevan

      Consultant in Gender Dysphoria

      Northern Region Gender Dysphoria Service

      Newcastle, UK

      Dr Kate Cooper

      Clinical Psychologist/Honorary Lecturer

      University of Bath

      Bath, UK

      Dr Conor Davidson

      Consultant Psychiatrist

      Leeds Autism Diagnostic Service

      Leeds, UK

      Ms Isabelle Gately

      Teacher

      Elizabeth Garrett Anderson School

      London, UK

      Dr Derek Glidden

      Consultant Psychiatrist

      Nottingham Centre for Transgender Health and Nottingham City Asperger Service

      Nottingham, UK

      Dr Munib Haroon

      Consultant Community Paediatrician

      Harrogate and District NHS Foundation Trust

      Harrogate, UK

      Dr Alwyn Kam

      Specialty Doctor in Psychiatry of Learning Disability

      Leeds Autism Diagnostic Service (LADS)

      Leeds, UK

      Dr Keri‐Michele Lodge

      Specialty Registrar Psychiatry of Intellectual Disability

      Leeds Autism Diagnostic Service

      Leeds, UK

      Ms Frances Needham

      Former Clinical Team Manager, Neurodevelopmental Service

      Leeds Autism Diagnostic Service

      Leeds, UK

      Dr Mini G. Pillay

      Consultant Child and Adolescent Psychiatrist (Learning Disabilities)

      Wakefield CAMHS

      Wakefield, UK

      Dr Padakkara Saju

      Consultant Psychiatrist

      Leeds Gender Identity Services

      Leeds, UK

      Dr Monica Shaha

      Consultant in Child and Adolescent Psychiatry

      Psychiatry‐UK LLP

      Dewsbury, UK

      Dr Alison Stansfield

      Consultant Psychiatrist and Clinical Lead

      Leeds Autism Diagnostic Service

      Leeds, UK

      Acknowledgements

      I would like to thank all of the chapter contributors for giving up their valuable time, sharing their expertise and insights, not minding my endless tinkering and, on one occasion, reviewing drafts and responding to me whilst they were on holiday (AS). A big thank you therefore should also go to their nearest and dearest, as the opportunity cost of writing a book is often time away from family and loved ones.

      All of us have benefitted from having patients, carers, mentors, colleagues, friends and acquaintances (Aspies and Neurotypicals) who are a source of inspiration, advice and learning. It is to be hoped that this book benefits from their collective wisdom in a similar manner.

      I would like to thank the editorial team at Wiley, especially James Watson, Commissioning Editor, and Yogalakshmi Mohanakrisnan, Project Editor, who have helped midwife the book from conception, through an elephantine gestational period, to delivery. Their expert advice was invaluable, and that telephone call before the very last ‘push’ greatly reassuring.

      A number of people read chapters and provided thoughtful comments: Clare Armstrong‐Roger, Lynn Drinkwater, Anu Raykundalia, Bob Phillips – thank you. Other colleagues and friends have been there to listen, to offer their thoughts, to give their insights and encouragement, and I thank you all.

      Finally, to Sophie, who has put up with, and supported, the Sisyphean task of writing and editing this book – and a lot more besides – thank you! This is for you.

      Munib Haroon

      3 August 2018

      Harrogate, UK

      Abbreviations

      ADHD attention deficit hyperactivity disorder ADI‐R Autism Diagnostic Interview – Revised ADOS Autism Diagnostic Observation Schedule AMAB/AFAB assigned male at birth/assigned female at birth ASC autism spectrum condition ASD autism spectrum disorder ASDI Asperger Syndrome (and high‐functioning autism) Diagnostic Interview ASSQ Autism Spectrum Screening Questionnaire BNF British National Formulary CAMHS Child and Adolescent Mental Health Services CAST Childhood Autism Spectrum Test CBT cognitive behavioural therapy CGH Comparative Genomic Hybridisation CI confidence interval CNV copy number variation 3Di Developmental, Dimensional and Diagnostic Interview DISCO Diagnostic Interview for Social and Communication Disorders DSM Diagnostic and Statistical Manual DVLA Driver and Vehicle Licensing Agency EHCP Education, Health and Care Plan GARS Gilliam Autism Rating Scale GV gender variance ICD International Classification of Disease ID intellectual disability IEP Individual Education Plan LADS Leeds Autism Diagnostic Service LD learning disability MMR measles, mumps, and rubella NICE National Institute for Health and Clinical Excellence OCD obsessive compulsive disorder OR odds ratio PD personality disorder PDA pathological demand avoidance PDD‐NOS pervasive developmental disorder not otherwise specified PECS Picture Exchange Communication System RAADS‐R Ritvo Autism Asperger Diagnostic Scale – Revised SENCO Special Educational Needs Coordinator SIGN Scottish Intercollegiate Guidelines Network SMART Specific, Measurable, Achievable, Realistic, Timely SNP single nucleotide polymorphism SSRI selective serotonin reuptake inhibitor STOMP Stopping Over‐Medication of People TEACCH Treatment and Education of Autistic and related Communication handicapped Children WHO World Health Organization

      CHAPTER 1

      An Introduction to Autism

      Munib Haroon

      OVERVIEW

      Autism is a relatively common neurodevelopmental condition with a prevalence of over 1% in many populations.

      Autism is defined by the presence of social communication and social interaction difficulties and restricted, repetitive patterns of behaviour, interests and activities which can vary in severity.

      Autism has a heterogeneous clinical presentation because of variations in the core features and the presence or absence of associated conditions.

      The diagnosis of autism is a clinical diagnosis.

      There is no cure for autism but early intervention can have a significant impact upon overall well‐being.

      Definition

      Autism spectrum disorder (or autism) is a relatively common neurodevelopmental condition with a heterogeneous underlying basis which is incompletely understood. The definition of autism is based on the presence of impairments in social communication and social interaction and restricted, repetitive patterns of behaviour, interests or activities (Figure 1.1). These impairments vary greatly in severity, and whilst often noticeable during childhood can go undetected until later in life.

      Diagram displaying the addition of 2 circles labeled Social communication and social interaction difficulties and Restricted, repetitive patterns of behaviour, interests, and activities with a rightward arrow pointing to a circle labeled Autism spectrum disorder or autism or autism spectrum condition.

      Figure 1.1 Autism is defined by the presence of features in two broad categories.

      The neurodiversity movement has had a large impact on the terms of discourse when referring to autism and, for many people, use of the term ‘autism spectrum condition’ is preferred to the use of the term ‘… disorder’, whilst plural terminology (e.g. ‘disorders’) is also often used to highlight the heterogeneous nature of the condition. The terms ‘autism,’ ‘autism spectrum disorder(s)’ and, occasionally, ‘autism spectrum condition’, are therefore used interchangeably in this book. (However, for diagnostic purposes, in a clinical setting, it remains sensible to use conventional terminology in a consistent way to avoid confusion.)

      History

      The term ‘autism’ is derived from the Greek word ‘autos,’ meaning ‘self,’ and was first used in 1910 by Eugen Bleuler (Figure 1.2) in relation to schizophrenia, to describe the withdrawal of schizophrenic patients into their own fantasies. However, the earliest clinically based descriptions of what we would now recognise to be autistic patients were not written until many years later (although there is considerable interest amongst researchers in older historical descriptions of individuals who seem to possess autistic traits). The first well‐described clinical account was written by Sukhareva in 1926 although credit for the first detailed descriptions of autism are usually attributed to Leo Kanner in 1943 and then to Hans Asperger in 1944. Opinion is divided over who ‘got there first’, and who knew what about the other’s work – a controversial area which lies outside the scope of this book. Asperger’s seminal contribution to the field fell into neglect in the years around the Second World War before being rehabilitated in 1981 by Lorna Wing who coined the eponymous term ‘Asperger’s syndrome’.

      A timeline depicted by a row of box 4 boxes labeled Eugen Bleuler: first use of term “autism” (1910), Sukhareva describes case series of autistic patients (1926), Leo Kanner: “Autistic Differences of Affective Contact” (1943), and Hans Asperger: “Autistic Psychopathy in Childhood” (left–right).

      Figure 1.2 A timeline involving some of the early pioneers in autism.

      Epidemiology

      The reported prevalence of autism has increased in recent decades, with estimates of over 1% being made in some large‐scale surveys. It is not yet clear how much of this increase could be caused by an actual increased incidence or whether it is just that the change is the result of better public awareness, improved recognition by professionals and a widening of the diagnostic criteria.

      Large‐scale studies have shown that autism affects 2–3 times more males than females. This could be because of under‐recognition in females or because of a genuine sex difference.

      Aetiology

      Controversy over aetiology has dogged the condition from early on. It was seen – erroneously – by some as an acquired condition resulting from parent–child interactions, with ‘blame’ in some quarters attached to ‘refrigerator mums’ – a theory that was popularised in the 1950s by Bruno Bettelheim. The 1960s saw a shift from ‘nurture‐based’ explanatory models towards ‘nature‐based’ models and towards undertaking research to address the biological basis for the disease. This biological basis remains incompletely understood. What is clear is that there is a strong genetic basis for autism, along with a clear role for environmental risk factors. It has been known for some time that a sibling of an affected individual is more likely to have autism than a general member of the population: 10% in comparison to 1%. Furthermore, the risk of a monozygotic twin having autism is greater than the risk in a dizygotic twin. More recent research has identified that there are multiple candidate genetic mutations, many of which are uncommon or rare, whose interactions may have a role in how the autistic phenotype is expressed. It is thought that the non‐genetic risk factors that have been identified may interact with genetic factors and thus affect how a phenotype is expressed in an individual. Some of this work has not been without controversy, most notably the well‐publicised scare over a study (published and subsequently retracted by The Lancet) that erroneously showed an association between the mumps, measles and rubella (MMR) vaccine and autism and which led to a significant decline in immunisation rates in the UK in the early 21st century.

      Clinical features

      Whilst the origin of the term ‘autism’ suggests a person’s withdrawal into themselves, the idea that everyone with autism is highly withdrawn and isolated is incorrect and only describes a proportion of individuals with the condition. The term ‘spectrum’ is used to denote the heterogeneity that is seen in the clinical features of different individuals with the condition. In addition, the autistic phenotype is often expressed differently within the same individual as they move from childhood to adolescence and adulthood.

      As well as the core features, those with autism can present with co‐morbid or associated conditions: mood disorders, anxiety disorders, attention deficit hyperactivity disorder (ADHD), learning disability, dyspraxia and epilepsy.

      Diagnosis

      The diagnosis of autism can theoretically be made at any age, although it would take confidence to make a diagnosis in a child below the age of 2–3 years. The mean age of diagnosis in the UK is currently about 5 years although a diagnosis can occur several decades after this. Such a late diagnosis occurs in many contexts: where the presentation is subtle and associated with normal IQ and speech, in looked‐after children, or where there is a significant learning disability or other co‐morbidity making recognition of the underlying autistic features difficult.

      A diagnosis is made based on clinical assessment including history (including developmental and psychiatric information), examination, observations from other parties and, sometimes, the use of diagnostic clinical examination tools. At present there is no role for blood tests or imaging to make a diagnosis although they may help to diagnose associated or underlying conditions.

      Management

      The core features of autism cannot be cured or removed with treatment. However, support, particularly early intervention, can have positive effects, whilst co‐morbidities are amenable to treatment if recognised. Medication can, in the right circumstances, be used to manage many associated medical problems and co‐morbidities: sleep difficulties, ADHD, aggression, mood disorders and anxiety.

      Prognosis and outcome

      A normal trajectory for the development of childhood communication skills and normal IQ seem to be good predictors for later outcome. The presence of associated co‐morbidities is likely to have a significant effect on how a person with autism manages in life and so the early identification and management of these, if and when they arise, is important. Non‐biological factors such as the nearby presence of friends and family and the ability to take part in some sort of social activities can also be very important – and, importantly, more malleable than biological factors.

      It is increasingly recognised that individuals with autism are at an increased risk of early mortality due to epilepsy, and suicide (because of psychiatric illness), whilst those with significant levels of social communication difficulty and cognitive impairment can struggle with many aspects of day‐to‐day life including school, employment, long‐term relationships and independent living (Box 1.1). But, at the same time, many people with autism lead rich, fulfilling, independent or semi‐independent lives whilst making valuable contributions to society. Every person with autism – like every person without autism – is a unique individual and should be treated as such.

      Box 1.1 Outcomes for autism

      Less than 20% of adults with autism have a full‐time job

      Less than 20% of adults with autism live independently

      Less than 30% of adults with autism have a driving licence

      On average, people with autism die 16 years earlier than the general population

      Individuals with autism and a learning disability die, on average, 30 years earlier than the general population

      Further reading

      American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, 5th edn. Washington DC: American Psychiatric Association, 2013.

      Brett D, Warnell F, McConachie H, Parr J. Factors affecting age at ASD diagnosis in UK: no evidence that diagnosis age has decreased between 2004 and 2014. Journal of Autism and Developmental Disorders 2016; 46: 1974–1984.

      Kuhn R. Eugen Bleuler’s concepts of psychopathology. History of Psychiatry 2004; 15: 361–366.

      Lai MC, Lombardo MV, Baron‐Cohen S. Autism. Lancet 2014; 383: 896–910.

      Manouilenko I, Bejerot S. Sukhareva: prior to Asperger and Kanner. Nordic Journal of Psychiatry 2015;

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