DEFINITION OF AUTISM

General Aspects

It is currently widely accepted that the disorders included within the autistic spectrum (according to current international classification: "Generalised Development Disorders") are neuropsychiatric states that present a wide variety of clinical expressions, and are the result of multi-factorial development dysfunctions in the central nervous system.

Despite the wide range of clinical manifestations and different organic causes, the result is the same physiological and neuropsychological dysfunction.

Prevalence: it is generally agreed that throughout the world, 5 out of every 10,000 people manifest the symptoms of "classic autism", and if we take into account the entire spectrum of the syndrome, it is estimated that 1 out of every 700 or 1,000 individuals are affected. Prevalence is greater in the male population than in the female one, with the rate being 4:1, and cases are found in the same proportion in all social classes and cultures.

Some recent studies have pointed out that there has been a drastic increase in the incidence rate over the past few years. However, it is not clear whether this is the result of a true increase in incidence, a change in inclusion criteria, a greater awareness of autism among professionals or imprecise diagnoses.

Clinical presentation

All cases present clinical traits in three fields:

1. Alterations in the development of reciprocal social interaction. Some individuals suffer from a significant degree of social isolation, while others are simply passive in their social interaction, showing only scarce, furtive interest in others. Some individuals may be very active when establishing social interactions, but in a strange, biased and intrusive way, without taking other people’s reactions into consideration. However, all have in common a limited capacity for empathy, although they are capable of showing affection in their own way.

2. Disability in verbal and non-verbal communicationsSome fail to develop any type of language, while others are deceptively fluent. All lack the ability to follow a reciprocal interchange to its logical conclusion. Both the form and content of their language skills are peculiar and include echolalia, pronominal inversion and the creation of words. Their emotional reactions to others’ verbal and non-verbal requirements are also inadequate and include avoidance and the inability to understand facial expressions, body postures or, in short, any behaviours involved in establishing and regulating reciprocal social interaction. .

In some cases, language development seems to have been interrupted or even to have gone backwards. In others, there may be an association with language disorders involving the development of reception and expression. The repertoire of emotional expression and regulation also differs, sometimes appearing to be limited and at others excessive. Individuals often have serious difficulties in identifying and sharing other people’s emotions.

3. A restricted repertoire of interests and behaviours. Imaginative activity is affected The vast majority of people included in the autistic spectrum are unable to complete the normal simulation play of "as if". This hinders and limits their ability to understand other people’s emotions. In some cases, imaginative activity is excessive, while in many others imaginative activity is not effective as an adaptive function.

To the extent that they lack the capacity to develop internalised representations of other people’s intentions, they also have a limited ability to anticipate what may happen and to cope with past events. Behavioural models are often ritualised and repetitive and occurrences of perseverant relationships of attachment to unusual and unsuspected objects are fairly common, as are repetitive and stereotypical movements. Individuals often show enormous resistance to change and perseverance in their immutability. Insignificant changes in their environment may provoke a profound sense of discomfort. Many children affected by autism develop specific interests or concerns about peculiar issues.

Also, in many cases individuals demonstrate an unusual sensitivity to tactile, auditive and visual stimulants. Other non-specific common associated traits include: anxiety, sleep and eating disorders, gastrointestinal disorders and violent crises involving self-injury. The clinical expression may vary widely from one individual to another, as well as in the same individual throughout the course of his or her development. Some behaviours may be very intense and dominant at one particular age and then later vary both in nature and intensity, and although they may lead to very different clinical profiles, all are nevertheless expressions of the spectrum of the same syndrome.

In addition to variations in behavioural expression, there is also an enormous diversity regarding the level of mental activity, ranging from normal or even superior intelligence to severe retardation. However, it is important to bear in mind that three quarters of all cases included in the autistic spectrum involve some kind of intellectual alteration.

What do we know about the cause(s)?

A vast body of scientific evidence coincides in affirming that the symptoms of autistic spectrum disorders are the result of generalised alterations in the development of diverse functions of the central nervous system. The cause, or causes, have yet to be discovered. What is clear, however, is that the disorder is not due solely to a single biological cause, but rather responds to a multi-factorial aetiology. In the majority of cases hereditary factors need to be taken into account, alongside a complex and multidimensional genetic contribution that gives rise to an enormous variation in the expression of the associated behaviours.

Nevertheless, genes alone are not enough to account for all the variations which occur in very early deviations. We should also bear in mind the interaction between the genetic potential and the biological environment at both pre and perinatal levels. In other cases there is a close relationship between autistic spectrum disorders and some genetic pathologies, such as phenylketonuria, tuberous sclerosis, neurofibromatosis and fragile X, etc. There is currently conclusive evidence within the field of autism of a biological and organic causal mechanism, and it has been demonstrated beyond reasonable doubt that there is no causal relationship between the attitudes and actions of the parents and the development of autistic spectrum disorders.

We should view the clinical expression as the result of an interaction between the individual’s constitution (biological predisposition) and a number of internal and external factors that may interact in a favourable manner, protecting against risk, or in an unfavourable one, accentuating the risk and the subsequent clinical expression. The following may act as protective factors: a high intelligence quotient (IQ), the development of language and speech, a pleasant temperament, the success of educational development interventions and a protective social environment capable of coping with the multiple problems presented, while at the same time fostering healthy development.

Risk factors, on the other hand, include: a low intelligence quotient (IQ), absence of language or speech, neurological deficiencies, absence of educational programmes during early childhood and a social environment unable to provide support and cope with the tremendous pressure caused by the presence of a child affected by an autistic spectrum disorder.

¿What are the underlying common mechanisms?

Scientific evidence agrees that the individuals included in the autistic spectrum suffer from deficits in the processing of information. At a psychophysiological level, these anomalies include disorders in the regulation of wakefulness and different components of attention; and at a cognitive-behavioural level, the information processing deficit manifests itself in an underdevelopment of the so-called central coherence which, in turn, limits individuals’ proper perception and understanding of the world around them, as well as their ability to understand other people’s thoughts and intentions.

This neurocognitive deficit is at once perceptive (individuals do not understand what they perceive) and executive (individuals lack the ability to organise and plan intentional psychomotor responses). Although problems in modulating the sensorial processes (visual, auditive, tactile and pain-related) of those individuals affected by autism have been amply described, the specific physiological bases of these phenomena are still not clear. Similarly, the current prevalence of these altered mechanisms in the population affected by the disorders included in the autistic spectrum is still unknown.

This may explain why individuals, with the aim of avoiding an incomprehensible social environment, persevere in restricted and repetitive activities. Gaining a better understanding of these underlying mechanisms of the deficit is of vital importance for everyone involved in teaching, educating and treating those affected by one of the autistic spectrum disorders. This severe deficit is often clearly visible to everyone at first sight and the problem may be underestimated and constitute the source of multiple, extremely painful misinterpretations.

Clinical assessment

Everyone recognises that well adapted early intervention tailor-made to suit individual needs is an important step along the road to integration. Therefore, whenever there is a suspicion of autism, intervention should be carried out as quickly as possible. Once the diagnosis has been confirmed, the parents should be explicitly informed straight away and encouraged to participate in the whole process. Any individual who is suspected of suffering from a disorder included in the autistic spectrum should undergo a complete clinical assessment, a medical check up and a series of complementary tests.

This assessment is of vital importance in obtaining an accurate diagnosis, and also forms the basis of any subsequent intervention. Each clinical assessment should start with a detailed history of all the signs responsible for the parents’ initial concern, a history of the child’s development, paying special attention to global development, and an inventory of any previous illnesses. The assessor should focus especially on all those associated signs that may contribute to a specific diagnosis. When charting the family history, the assessor should investigate a series of factors in the child’s nearest relatives and their descendents (autism, ‘minor variations of autism’, mental retardation, fragile X and tuberous sclerosis) due to their bearing on the need for a genetic or chromosome evaluation. Right from the very beginning the family resistance or vulnerability should also be assessed and it is necessary to observe the individual concerned in a number of different situations, both structured and less structured.

The assessor needs to be able to observe the individual either directly or on video tape in their home and their third environment (day care centre, school or work). The assessment should be carried out by a multidisciplinary team with extensive experience in the field of autism and generalised development disorders, and should involve the use of internationally standardised resources, including questionnaires, interviews and observation scales, such as, for example, the Autism Diagnosis Interview (ADI), Autism Diagnostic Observation Schedule (ADOS), the Vineland Adaptive Behavioural Scale (VABS), the Infant Autism Assessment Scale (IAAS), the Diagnostic Interview for Social and Communication Disorders (DISCO) and the Abbreviated Behavioural Assessment (ABA), among others. Each child should undergo a complete medical examination, focusing especially on visual and auditive keenness and including an exhaustive paediatric and neurological check-up.

To date there are no specific laboratory tests for autistic spectrum disorders. The genetic assessment is carried out, at present, on the basis of the specific signs identified by the clinical examination and the family history. The clinical and development profiles should be complemented by a series of psychological and language tests using suitable instruments (such as the Psycho-Education Profile [PEP]) and standard neurological tests such as the Leiter test, the WISC (on occasions), the Reynell test, Loewe and Costello’s Symbolic Play Test and the Peabody Picture Vocabulary Test (PVT), among others. Here, we should insist once again that an autism diagnosis should only be carried out on the basis of a complete clinical assessment, and should rely solely on internationally agreed-upon criteria. There are three main reasons for this:

• To ensure access to the appropriate support services and/or the creation of these services where they are limited or nonexistent.

• To ensure that current investigations are comparable, both as regards their clinical aspects and, in particular, the (very necessary) publication of the effectiveness of the different services and treatments carried out.

• Each child, whether or not they are diagnosed with autism, deserves an education suited to their specific needs.

Lax or haphazard diagnostic procedures may result in autistic children being excluded from the special services set up for them, and may also result in the inclusion of people who actually present other characteristics, such as those pertaining, for example, to behavioural disorders or learning difficulties that are not, per se, included in the autistic spectrum. Consequently, such children will not receive the specialist education they deserve, while at the same time, will be making use of aid that is already overstretched and is designed specifically for those suffering from autism.

Treatment

There is still no cure for autism. However, it is evident that suitable life-long educational approaches, the support provided by the families and professionals involved in each case and access to adequate services can all improve patients’ quality of life and help them to cope with the severe development disorder from which they suffer. Aims of the treatment:

• To foster social and communicative development adapted to the diverse contexts in which the patient moves during their everyday life.

• To teach adaptation techniques and train individuals in both cognitive and emotional functions, with the aim of increasing their flexibility.

• To treat those implicit behavioural and emotional problems that interfere with development.

• To provide support and information to families and the professionals involved in each case; to help them cope with difficulties as they arise and ensure that their own decisions are adapted to the needs of the autistic patient.

• To broaden the interests and special qualities possessed by many of those individuals suffering from autism. It is clear that autistic patients respond well to specialist, structured education programmes that are tailor-made to suit their individual needs and aimed at fostering the development of their individual profile. Access to ample community resources and the fostering of a positive attitude in the general population will enable them to enjoy a good quality of life and experience and lead a full and productive life. Normally, it has been shown that a combination of different approaches, methods and individualised therapies produce very satisfactory results. Planning the treatment: it is important that each treatment be developed individually, in accordance with the diverse individual characteristics, functioning levels, associated disabilities and possibilities offered by the environment. Planning should bear in mind both common human needs and the specific needs caused by the autistic disorder. The planning of any treatment of this type should be multidisciplinary in nature and take into account the viewpoints and objectives of all those involved.

• Parents, other members of the family, teachers and everyone else involved should play an active role in the design and completion of the treatment plan.

• It is important to establish the objectives to be reached and make a critical selection of the resources required.

• A hierarchy of priorities should be established, including symptoms / associated pathologies as objectives.

• It is important to strike a balance between individual needs, family priorities and available resources.

• The planning of any treatment should also include means for monitoring the development of diverse functional areas and the effectiveness of the treatment itself.

• Finally, it is important to establish a timeframe for assessment sessions, with the aim of correcting the treatment plan and readapting it to the current needs of the autistic patient.

Treatment resources:

•Educational programmes:

• Special school /ordinary school services, special education centres, day centres, suitable accommodation facilities, including the family break service for weekends and holidays..

• Structured educational methods / principles, behavioural modification schemes, language and speech therapy and occupational and physical therapy.

• Family support:

• Psychological education: providing reliable information about autism and ways of dealing with it.

• Parent training: modifying behaviour, alternative language techniques.

• Advice for helping families cope with the emotional impact of having a child / member of the family with autism.

• Pharmacological help and other alternative aids.

• Autism cannot be cured by pharmacological means, but medication can have a positive effect on problems such as epilepsy. Whenever medication is used, it should be viewed as part of a general treatment plan, rather than a substitute for other aspects of the treatment. All medicines must be prescribed on the basis of agreed-upon information and rigorous methodological criteria with definite timeframes. Under such conditions, medication can prove beneficial for treating associated problems such as aggressiveness, obsession, tics, rocking, hyperactivity and others. If these problems decrease, then other interventions can be carried out more easily and the patient’s quality of life will improve. The use of diets and nutritional supplements is controversial, although in some cases, it can contribute to patients’ overall improvement. Parents should be well informed so as to enable them to make decisions that will, in no way, have a negative effect on their children’s health.

The planning of any treatment should evolve as the individual matures.

1. Early infancy:
during this period the bases for intervention coincide with those pertaining to a normal development process, and the aim should be to stick as closely as possible to them. As soon as the child is diagnosed, it is important to carry out an exhaustive functional assessment and the treatment to be applied should be planned as quickly as possible. Numerous studies, as well as common sense, show that early intervention is highly beneficial. Once the diagnosis has been completed, the parents need continuous information and personal help. It is evident that mutual help organisations, such as, for example, parents’ association, make a valuable contribution. There is also a real need for home intervention programmes, which are rarely accessible in European countries. Families can and should play a crucial role in counteracting self-absorption and stimulating imitation, participatory attention, communication and the development of social skills, along with many other aspects that should be born in mind when compiling the personalised treatment plan for a child suffering from autism. Special attention should be paid to key aspects of daily life at this age, such as nutrition, food, sphincter control and sleeping, etc.

2. School age::
During this age, the main focus of attention should be the establishment of an appropriate educational curriculum, with the obvious personalised adaptations. The diversity of school-aged children affected by autism means that it is vital to have access to a wide range of educational alternatives. Although the European Union favours integration in ordinary schools, this does not mean that those schools should lack the necessary support and properly trained staff. A middle road needs to be found for each individual, depending on the local conditions and the possibilities available. Obviously, emphasis should be placed on training professionals to help them understand autism. Over recent years there have been many significant advances in educational technology, although such advances need to be amply increased. The application of learning techniques using visual support, the use of information technology, a functional curriculum, the structuring of the timetable and the environment, partial integration, peer tutoring, etc, all help ensure that the school-going period is a fruitful time for autistic patients. It is vital to learn what will be important later on in life, and it is essential to involve the family in this process, in order to adapt study materials, foster the child’s participation in very different environments and help establish human relation networks.

3. Adolescence and Adulthood:
During this phase, the treatment plan should have an ecological base and should aim at achieving those aspects required for participation in the normal life of the community. It is important, even considering the limitations imposed by patients’ mental age, for the personalised plan to be based always on their current and future chronological age. Adulthood is the longest period of our lives and it is therefore of prime importance to ensure a range of services based on up-to-date knowledge of autism that can be easily accessed by the affected population. The treatment plan should pay special attention to::

• Access to supported accommodation / housing facilities, ranging from residential care to housing adjustment to ad hoc support.
• Educational possibilities, from structured day centres to suitable and special jobs to full integration into the normal working world.

• The need for personalised, ongoing education, and access to the aid required to enable patients’ participation in community life.
Their support needs do not diminish as autism patients grow older and reach retirement age, and it is necessary to continue adapting their plan to their current age. Throughout their whole life there should be an emphasis on both services and aspects such as individualisation, personal autonomy, age-appropriateness, skills acquisition, tailor-made functional curriculum, participation in community life, respect and dignity and coordination between clients and professionals.
Special issues: the families of autistic patients and the professionals that work with them often read and hear comments about a wide variety of treatment options. In general, very few of these methods are accessible in their local area. As in the case of many associated disorders which have no accessible treatment, a number of diverse methods are suggested. Some methods have been proven to be effective in helping those suffering from autism, while others are based on unique cases for anecdotal reports. There are also some treatment methods that fail to take into account (or are even opposed to) verified evidence regarding autism, i.e. those that continue to argue that the disorder is caused by inadequate parenting. Others lack scientific criteria, or at least fail to provide sufficient evidence of such criteria. Some claim to be specific for autism, others are recommended for all types of development difficulties. The media, and sometimes the professionals themselves, often exaggerate the positive effects of a given treatment and minimise its lack of empirical results.

Families should be advised to look for:

•A diagnosis based on recognised, validated instruments.
•Services which provide a continuous, renovated assessment method.
•References in reliable scientific publications to the treatment method proposed.


Families should be encouraged to adopt a critical attitude before committing themselves to extending the treatment plan, and to bear in mind the risk and potential impact of any intervention on the family as a whole, including other members. During the entire lifetime of the person affected by autism, the family will need to take on various tasks. To help them accept this load and live a satisfactory life, they should have access to a series of services. These services should not be considered a luxury, but seen rather as normal resources to which they have a perfect right. Unfortunately, few European families have free access to minimum services such as:

• information and references regarding specialist services and parents’ associations.
• practical advice based on exchange.
• adequate economic aid.
• adapted leisure opportunities.
• home help, e.g. babysitters, child minders.
• facilities for hosting short duration / weekend stays.
• legal advice.
• access to recourses and services both during crises and periods of normality.

Services are essential but are not enough by themselves. The attitude of our communities towards those affected by autism and their families is extremely important. Their rights, which are expressed in the Charter of Rights for People affected by Autism, must be recognised and assumed by the authorities and by the system that provides the resources. Families need to feel accepted as valuable members of their local community. The community should provide aid and support, helping families cope with the difficulties posed by the disorder. All members of society should be aware of the important role played by families and help them responsibly. We all need a supportive society, a society that moves towards the objective of guaranteeing full citizenship to all those affected by autism, fostering and appreciating their qualities, accepting their diversity and promoting their well-being and their positive contribution to the world we all share.

If you would like to find out more about us, please write to the following e-mail address info@gautena.org or call 943 215344. To find out more about autism and our services, visit http://www.gautena.org/