CHAPTER
7: AUTISM AND RELATED CONDITIONS
HUGH MORGAN
INTRODUCTION
Autism is one of a group of conditions called Pervasive Developmental Disorders, which usually manifest themselves in early childhood and persist into adulthood causing long term disability, for which at present there is no “cure”. The most well known of these disorders are autism and Asperger’s syndrome. In recent years, more has become known about the factors involved in the causation of these disorders. Increased knowledge and experience has led practitioners to develop improvements in to the approaches used to support individuals with these conditions and so improve their quality of life. This chapter will provide a “broad brush” overview of autism, describing how autism is recognised and responded to. Causation and diagnosis will be discussed, as will the needs of people with autism, and the services necessary to meet their needs.
A historical perspective is useful to understand the initial description and development of the concepts of autism and related conditions.
UNDERSTANDING AND
DESCRIBING AUTISM
In America in 1943, an Austrian psychiatrist, Leo Kanner, reported a group of children who seemed to share a pattern of behaviour which he christened 'early infantile autism'. The core behaviours he observed included the need for sameness in the everyday environment, repetitive (and often bizarre) routines, and a lack of emotional contact with others. Kanner's observations were not entirely new, for it is clear from literature throughout history that people with autism lived before the condition was formally described. Kanner, however, identified the condition through meticulous description of affected children. He subsequently reported that the children in his study were characterised by 'autistic aloneness' and an obsessional desire for sameness (Kanner and Eisenberg, 1956). Kanner felt that these characteristics were significant, critical, features occurring during the first 30 months of life. Kanner used the term “ autistic “to reflect the isolation from socially acceptable behaviour apparent within the children he had studied.
A year after Kanner, Hans Asperger published a paper in German describing the findings of his study of a group of children and adolescents with the condition that has come to bear his name. In 1971 Van Krevelin compared the two disorders, and others subsequently published on the subject (e.g. Wing, 1981). There were many similarities with Kanner's subjects, but also significant differences. Asperger noted that the parents he had interviewed had not recognised that their children had difficulties until they were at least three years old and, in several cases, not until they started school. Unlike the children described by Kanner, those reported by Asperger had an adequate spoken vocabulary, with other abnormalities such as an obsessional interest in factual matters (for example, one displayed an expert knowledge of rail timetables). Like the children reported by Kanner, they had great difficulty in situations requiring two-way social interaction and communication. Essentially, they did not seem to be interested in, or to understand, the responses of other people. “Autistic” was also the term used by Asperger to describe his group. He called this condition “Autistic Psychopathy “. This is now called Asperger’s syndrome, especially in Europe.
Neither Kanner nor Asperger were aware of each others’ research and on the face of it, the fact that they both used the term autistic to describe these children remarkable. However, this is not the case as the term had first been coined by an earlier psychiatrist Eugene Bleuler in 1911 to describe the narrowing of relationships to people and to the outside world and withdrawal into the person’s own self in schizophrenia. The term had been derived from the Greek word autos meaning “self “.Indeed, autism used to be considered a psychotic illness and the term childhood schizophrenia has been applied to it in the past. Today, the term autism is applied only to the condition which has its beginnings in childhood and pervades the person’s entire being ( Frith, 1989 ).
For many years the focus of practitioners and parents in the field of autism has been directed by the descriptions of autism pioneered by Leo Kanner and Hans Asperger. However, in recent years the work of authors such as Christopher Gillberg in Sweden and Lorna Wing in the UK, has led researchers and other to conclude that autism and Asperger’s syndrome may be two variants of the same group of impairments. Wing and Gould in 1979 came up with a core triad of impairments which are accepted by professionals all over the world. They are : 1) qualitative impairment of reciprocal social interactions, 2) qualitative impairment in verbal and non-verbal communication and imaginative activity and 3) a markedly restricted repertoire of activities and interests. Autism and Asperger’s syndrome are now considered to be disorders of development, beginning in childhood but persisting into adulthood. As the impairments impact on most aspects of the individual’s life, the term Pervasive Developmental Disorders has been used to describe these conditions.
The two classificatory systems used all over the world, i.e. the International Classification of Diseases the 10th revision ( WHO ) and the Diagnostic and Statistical Manual IV (APA) both use the triad of impairments in the diagnosis of autism. Asperger’s syndrome describes people with similar impairments but with out the delayed or grossly abnormal speech typical of children and adults with autism.
How common is autism ?
The incidence of autism reflects awareness of the syndrome by practitioners and parents. Over time, with increasing familiarity and knowledge, the number of individuals referred for assessment has increased. Before the establishment of the triad of impairments the prevalence was considered to be between 4 to 6 per 10,000 population. But Wing and Gould in 1979 found that while 21 per 10,000 showed the triad, only 4.9 met all the criteria for autism. Gillberg (1993 ) found autistic traits in 35 per 10,000 children who did not meet the diagnostic criteria for either Autism or Asperger’s syndrome. Epidemiological studies thus provide evidence for an Autistic Spectrum of disorders ranging from classical Kannerian autism to autistic traits.
Studies by Gillberg and his colleagues in Sweden led Wing (1996) to conclude that the incidence of autistic spectrum disorders may be at least 6 per 1000 of the population (58 for every 10,000 children). This figure is significantly higher than the figures used by the National Autistic Society in the UK in the 1980s as the basis for service planning. The Society based estimates of the number of people with autism on a prevalence of 4 per 10,000 of the population.
This raises an important question: is the apparent increase in the number of people with autistic disorders purely the result of increasing awareness, combined with the recognition of a number of conditions falling within the autistic spectrum, or has there been a real increase in prevalence? A true increase may, for example, be the result of genetic abnormalities produced by pollution (such as hydrocarbon-induced chromosomal breakage) or other effects of environmental toxins. No evidence has so far been found to support the hypothesis that autistic disorders are truly becoming more common.
In their study in the inner London Borough of Camberwell in 1979, Wing and Gould identified children who did not necessarily fall into the category of Kannerian autism, but displayed profound difficulties in social interaction and communication. They were able to identify three groupings based on the quality of their interaction: the aloof, the passive, and the active but odd. To this they added a fourth, the over formal, stilted subgroup (1996). In the original study they also found an association between IQ and the severity of social interactions.
There is a highly significant association between autism and learning disability ( Olsson, Steffenburg and Gillberg, 1988).About 70% of people with autism have a learning disability and the prevalence of autism increases proportionally as the IQ decreases. Diagnosis also becomes more difficult as there is a considerable overlap between the features of both conditions. Asperger’s syndrome is not usually associated with learning disability although many clinicians have patients with mild learning disability and an autistic disorder closely resembling that described by Asperger.
Autistic spectrum disorders are often associated with other disorders which result from genetic or chromosomal abnormalities. Two such disorders can be used to illustrate the presence of autistic like patterns syndromes other than autism, and also to show how these behaviours can be differentiated from autistic spectrum disorders.
Fragile X syndrome, like autism is more common in men. Key features include hyper sensitivity to sensory stimuli such as sound and touch ,stereotyped behaviours and dislike of social contact with others. However, this avoidance of social contact is due to social anxiety and introversion rather than a failure to understand social meaning that is present in people with autistic spectrum disorders.
In Rett’s syndrome, another pervasive developmental disorder which affects only women, early normal development is followed partial or complete loss of speech and skills in locomotion and use of hands between 7 and 24 months of age. Behaviours similar to those seen in autism such as repetitive hand movements and lack of creative play together with impaired language development, severe learning disability and increasingly severe physical difficulties leads to social isolation. However, with appropriate management, the autistic like isolation becomes less pronounced.
In recent years, speech and language therapists have
promoted the concept of a communication disorder known as Semantic Pragmatic
Disorder( SPD ), originally defined by Rapin and Allen (1983). This condition
has been described as having similar deficits to those often described in
Asperger’s syndrome and includes
difficulties in listening, talking, understanding language and how others think
and feel, a lack of creative play and fine motor difficulties. There is often an
exceptional memory for minor detail. There is a debate as to whether semantic
pragmatic disorder should be seen as a separate entity or is simply a
description of some of the characteristics of autistic spectrum disorders. Many
practitioners believe that protagonists of the condition are failing to take
into account all the deficits present when making their assessment, focusing
selectively on certain aspects of behaviour and communication.
How are autistic
spectrum disorders caused ?
There are many theories on the causation of these disorders which can be considered under the headings of psychological theories and biological theories.
Psychological
theories
Hobson postulated that the primary impairment was an inability to engage emotionally with others so that the child with autism does not receive the necessary social experiences to develop the cognitive structures for understanding (Hobson,1995).
Baron-Cohen and colleagues hold the primary impairment to be a cognitive one. Their theory of mind is based on the idea that the child with autism fails to develop the understanding that people have minds and mental states and that mental states relate to behaviour ( Baron-Cohen,1993) .
Tager-Flusberg (1993) holds that the impairment is one of
failure to develop an understanding of the nature of language as communication.
Children with autism do not develop an understanding that communication and
language exist for the exchange of information.
Biological theories
There is increasing evidence that autism results from organically caused brain dysfunction. Studies have shown severe brain dysfunction in people with autism and coexisting syndromes such as tuberose sclerosis and phenylketonuria and medical conditions known to cause central nervous system pathology. It seems possible that multiple biological aetiologies may cause the syndrome of autism acting through a final common pathway which is as yet unknown.
Research involving the study of twin pairs has demonstrated a genetic predisposition to autistic disorders: if one twin has autism, the likelihood of the other twin having autism is far higher for monozygotic (identical) twins than for dizygotic (non-identical) twins (Folstein and Rutter, 1977). Autism is far more common in boys than in girls (Lotter 1966; Lord and Schopler, 1987). Autism is fifty times more frequent in the siblings of people with autism (Smalley et al 1988).Environmental factors acting during the early stages of development (i.e. during pregnancy and early life) are also thought to play a role.
Post-mortem studies on people with autism have shown little evidence of gross pathology in their brains. Computer assisted tomography and magnetic resonance imaging have shown abnormalities if the cerebral cortex, cerebellum and the ventricles in the brain. However, these abnormalities have not been consistent. Functional imaging such as positron emission tomography(PET) and single photon emission tomography (SPECT) again have not demonstrated any consistent abnormality. Perhaps the abnormality is too subtle to be picked up by the investigative techniques currently available.
Abnormalities have also been described in the brain chemistry . Platelet serotonin has been shown to be elevated in 30% of people with autism. Other abnormalities include low levels of dopa hydroxylase, elevated plasma noradrenaline and urinary homovanillic acid levels, elevated opiod levels in the cerebrospinal fluid with reduced plasma endorphins and abnormalities in the hypothalamic-pituitary axis which regulates the endocrine glands such as the thyroid. But a specific defect leading to the autistic syndrome remains to be found.
Autistic disorders therefore seem likely to be the result of brain dysfunction occurring at a particular stage in development as no adult with “acquired autism” has been convincingly described. Some people, especially males, seem to be predisposed to this dysfunction, which may be mediated by a number of different biological processes.
DIAGNOSING AUTISM
The autistic child’s difficulties in the areas of communication, social interaction and imagination and the restricted repertoire of activities are usually noticed by parents, although they may not appreciate their significance. The abnormalities are sometimes first noted by practitioners such as teachers, social workers, nursery staff or health visitors. The child's general practitioner will usually be asked to make a referral to the local child health, child psychiatry or learning disability psychiatry service. There is no definitive diagnostic “test” for autistic spectrum disorders, although various assessment schedules are available to help structure information-gathering and for research purposes.
The key to correct diagnosis is a detailed developmental history from the child’s parents or any other informant who can describe the child’s behavioural and emotional state at different ages accurately. It would also be important to get information about family members who may also have learning disabilities and language problems. Diagnostic schedules or other standardised assessments may also be used to assist in making a diagnosis. Baron-Cohen (1992 ) developed a Checklist for Autism in Toddlers ( CHAT ) to assist in early diagnosis. Childhood Autism Rating Scale is a 15 item scale considered to be a valid and reliable tool for detection of autism in children and adolescents ( Schopler et al, 1986). Autism Diagnostic Observation Schedule( Lord et al 1989 ) and Autism Diagnostic Interview based on ICD-10 criteria for autism are two other scales available. It is useful to carry out tests of intellectual and communication abilities in order to tailor services to the individual’s needs.
The person with autism should have a full physical examination including a neuropsychiatric assessment and that of hearing and vision. Screening of urine and blood for metabolic disorders and chromosomal abnormalities can be useful. Electroencephalogram may be useful if there is associated epilepsy or a progressive neurological disorder is suspected. Other investigations such as magnetic resonance imaging need be carried out only if there is a clear indication.
SERVICES FOR PEOPLE WITH AUTISM
A considerable body of literature has evolved over the past 20 years regarding the needs of people with autistic disorders, and the most appropriate service responses. Accounts from researchers, practitioners, parents and the autobiographical writings of adults with autism such as Jim Sinclair, Donna Williams, and Temple Grandin, demonstrate that people with autism do not fit easily into mainstream or so-called 'normalised' services. The recurring theme in this literature is the need for individual support systems, based on an understanding of the basic impairments associated with autism, and reflecting the individual's need for predictability.
THERAPEUTIC APPROACHES
Pharmacological
People with autism will receive drugs for common physical ailments such as infections, and will need information about beneficial and possible adverse effects, presented in a way that takes account of communicatory and social difficulties. Prescribers will need to be aware of any physical disorder thought to be responsible for the autistic disorder (e.g. tuberose sclerosis) and of any co-existing disorder that may be exacerbated by drug treatment.
Medications of many types have also been used to treat psychiatric and behavioural disorders associated with autism. A distinction must be drawn between the treatment of specific psychiatric disorder in a person with autism, and the use of psychoactive drugs to treat behavioural abnormalities or components of the autistic triad of impairments.
People with autism are known to have variety of psychiatric disorders such as manic depressive illness. There may also be high levels of arousal and anxiety. Antidepressants and lithium has been used successfully to manage cyclical mood disorders and propranolol to reduce arousal. It is important to remember that people with autism are likely to have idiosyncratic responses to medications of all kinds especially if they have an associated severe learning disability.
However, the efficacy of drugs in the treatment of behavioural abnormalities such as aggressive behaviours or severe self-injury is not well established. There have been several recent studies and reviews of the use of psychoactive medications in the field of autistic-spectrum disorders. Howlin et al (1987) suggested that there is only limited evidence that drug treatments for autism are effective, and little evidence for any effect on the autistic disorder itself. Clarke (1996) cautions that further research is required before firm conclusions can be drawn regarding the effectiveness of drugs in the treatment of autistic spectrum disorders, although some recent research involving neuropeptide compounds and drugs affecting serotonergic systems shows some promise. The pharmacist Shattock (1995) raised some general concerns on the use of medication to treat patterns of behaviour often associated with autistic spectrum disorders. He believes that there may be physiological abnormalities associated with autism that make the prediction of treatment effects difficult, and individual differences (e.g. related to underlying causative conditions) that result in variations in response. The appropriate dose of a particular compound may be difficult to determine for similar reasons
Behavioural approaches
Behaviour modification is based on careful observation and recording of behaviour (rather than subjective interpretation) and the application of psychological techniques to promote desired behaviours and extinguish behaviours causing problems for the person or others. Behavioural approaches are useful for teaching new skills and highlighting specific environmental factors acting as triggers which may then be amenable to change. But changes in patterns of behaviour learned in one setting are rarely transferred to another (“generalisation”). The implication is that any behavioural intervention should be in the individual’s normal environment.
Educational
approaches
During the 1950s and 1960s autism was often treated by psychotherapeutic techniques, which were founded on the premise that autism was an emotional, rather than cognitive, disorder, and parents were seen to be at fault in this process. The psychotherapeutic approach is still adhered to in a few countries, most notably in parts of southern Europe. However, Rutter and Bartak (1973) demonstrated that an educational approach, i.e. by applying structured and consistent teaching within educational settings, was far more effective. Educational approaches focused upon helping the child or adult to understand and predict the world in which they live have gained considerable impetus in recent years, particularly in Northern and Western Europe, North America and Australasia.
Achieving understanding
The most successful therapeutic strategies for people with autism are based on an understanding of the nature of autistic spectrum disorders. In the UK, the concepts developed in the work of pioneers, like Sybil Elgar (who founded the first school for children with autism in the world), can be most clearly seen in the work of present day specialists working with children and adults with autistic spectrum disorders. The need to bring order and direction into the chaotic and confusing world of the individual with autism has featured in the literature available from many countries, including the enormously influential TEACCH programme in the USA.
Sign-posting
A technique that is increasingly used in the field of autistic spectrum disorders is that of sign-posting. In sign-posting, it is the task of practitioners to answer the questions that the person with autism will have, in a manner that allows information to be gained and retained. Signposts encourage individuals to predict, with confidence, their daily activities. Practitioners need to find methods of sign-posting which reflect a cognitive style centred on predictability and regularity.
It is also important to remember that, when establishing therapeutic environments for people with autism, practitioners should be aware of their own behaviour. This includes their use of verbal and non-verbal language (e.g. a calm and reassuring tone of voice), and the clarity of the message given. The person with autism is likely to need answers to questions such as: Where should I be ? What do I have to do? When do I do it? How long will it last? Who do I do it with? The answers to these questions will have implications for the organisation of the environments in which the individuals live, work, study, and spend their leisure time.
A key task for practitioners is to help people with autistic spectrum disorders learn to manage time. Duration is an abstract concept, and "wait until next week" conveys little to many people with autism. The management of time can often be achieved by scheduling, by task organisation and by using daily timetables. However, for many people with autism, reading timetables, whether written or pictorial, will be difficult. In these situations it may be helpful to begin by putting two activities in sequence through the use of pictures. There must be an end in sight; without the certainty of a finishing point, anxiety-related behaviours may occur.
There are other alternative or augmentative methods of communication, including the use of rote learning, bliss symbols and sign-languages (Wilbur, 1985). The key to effective use is always a concrete relationship between the sign or other aid and the meaning behind the gesture used. Makaton, which is often used in services to adults with autistic spectrum disorders, and which is a derivative of the British Sign language for the deaf, seldom makes use of signs which truly look like the meanings they represent. It is, therefore, often of limited use for non-verbal individuals with autistic disorders.
ORGANISATIONAL RESPONSES
Autism cuts across all geographical boundaries and racial and ethnic groupings. The following similarities can be found:
· the experience of autism is the same for the individuals and their families in any country
· in the vast majority of countries, services have been started by the initiatives of parents and a few key professionals
· services to children with autism are almost always developed many years before services for adults are considered
· no country provides a full range of services capable of meeting the individual needs of children or adults with autistic spectrum disorders (Morgan, 1996)
The most appropriate service for someone with an autistic disorder will be determined largely by the capacity of the individual to learn the necessary social “rules”. The range of need to be found within the spectrum of autism is enormous. It would be inappropriate to be prescriptive about one set of living circumstances that would be suitable for all people with autism. Whilst the autistic triad of impairments will be universally present, the behaviour of the individual will be profoundly influenced by other aspects of their personality, their level of global cognitive functioning, the presence of other disorders impacting on function such as dyslexia, dysphasia or dyspraxia, neuropsychiatric disorders such as manic depressive illness and epilepsy and by any co-existing sensory impairment. An individual's unique personality, maturational changes, altered life circumstances, and the effects of the environment (including the physical environment in which they live), will impact on the quality of support that will be required. For children, this is likely to mean identifying an appropriate school from a range of mainstream and specialist provision, with the decision based upon an in-depth assessment of need. In addition to state and voluntary sector schools for children with autistic spectrum disorders in the UK, there are 'for-profit' organisations which provide educational services to this section of the community.
For parents, there is possibility of tapping into the mutual support available through the local autistic society, which may well have parent-led, support groups for parents. In the West Midlands, for example, there are 24 such self-help groups operating under the auspices of the West Midlands Autistic Society.
For adults with autism, specialist services have, like many services for children, been instigated by parents. These services are sometimes based in residential units managed by the National Autistic Society, but most are operated by local societies who have identified the need for a locally-based service. Other types of provision include services developed by individual local authorities, and those offered by private (i.e. “for profit”) organisations. Traditionally, units offering residential services to adults have also included specialist day services, provided on site. Increasingly, specialist day services are being provided off-site, and fine examples of day services being established in mainstream colleges of further education are beginning to emerge in several parts of the country (Morgan, Edwards and Mason, 1996). Specialist health services for people with autism and additional health needs are discussed in chapter 10.
The critical features determining the success of these programmes appear to be the knowledge and experience of autistic spectrum disorders held by both support and teaching staff, and pivotal in this process will be an on-going staff training programme combined with excellent communication exchange. It is clear that on its own, "normal" practice is simply not sufficient. There is a need for practitioners working in the field of autism to gain special skills and knowledge that differ from the theory and practice employed when working with non-autistic learning-disabled people. A programme based on reinforcing appropriate behaviour with socially based rewards, for example, is often applicable to non-autistic learning disabled people, but may be catastrophic for someone with autism. Initiatives such as the Educautisme programme in Europe and the UK based one year professionally qualifying courses in autism operated by the University of Birmingham, are beginning to provide the type of autism-specific training required
The National Autistic Society and the network of affiliated local societies have, since 1992, operated a quality assurance programme - the NAS Network Autism Accreditation Programme. This provides the best guide yet that parents, practitioners, and individuals themselves can have regarding the ability of a service to provide a truly autism-specific response to the individuals living or working within that service. Teams are selected from personnel with particular knowledge and experience, to visit a service in order to undertake an in-depth assessment of its capacity to respond specifically to the needs of people with autistic disorders.
USEFUL CONTACTS
The Accreditation Centre for Autism Specific Services. 236 Henleaze Road, Bristol BS9 4NG. (For information regarding the Accreditation programme).
National Autistic Society, 276 Willesden Lane, London, NW2 5RB. (For information regarding the National Society and network of Local Autistic Societies - there is likely to be one near you!)
The Course Co-ordinator, Autism, School of Education,
University of Birmingham, B15
2TT. (For information
regarding professionally qualifying courses in autism)
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