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Autism


 

Autistic Spectrum Disorder

by Vera Bernard-Opitz, Kenneth Lyen, Lam Chee Meng

Definition

Autism is a developmental disorder that affects how an individual perceives the world. It is associated with profound problems of speech, behavior and social relationships. Autistic children have to struggle to master communication, language and expected behavioral practices. Characteristically, a child develops autism under two and a half years of age, lives in a world of his own, and has relatively little interaction with others. The autistic person derives satisfaction in repetitive self-stimulation, such as from spinning objects and there may be an obsessive interest with fixed routines. Speech is absent or significantly delayed and, when it eventually appears, it is abnormal. For example, there is a tendency to echo another person’s words. There are presently no diagnostic laboratory or radiological tests. The diagnosis is based on a series of clinical observations. Not every autistic person manifests all the symptoms and signs of autism. Therefore the diagnosis can only be made by adding up a series of observations and seeing if they fulfil predetermined criteria. Since consistent criteria have ben developed in various classification systems, the diagnosis of autism is one of the more reliable diagnoses in psychiatry.

Problems with the Diagnosis

The diagnosis should be made by an experienced clinician for the following reasons:

- The clinical picture of autism changes over one’s lifespan.

- Autism can occur with other disorders which can mask some of the manifestations.

- Several studies have indicated that about 40 percent of autistic children also show hyperactive behavior.

- About 75 per cent of autistic individuals are also intellectually disabled. As both conditions are associated with language delay, the detection of autism may be overlooked.

- Milder forms of autism are sometimes referred to as Asperger syndrome, and there is evidence to suggest that this condition forms part of the autism spectrum.

- If autism coexists with hearing impairment, the diagnosis may be missed, at least initially.

- Autistic features may occur in children with precocious reading skills, and this is referred to as "hyperlexia".

- Girls with autistic features and stereotypic hand-wringing movements, regression in development and hyperventilation, may be suffering from the Rett syndrome.

Historical

Leo Kanner was the first to recognise autism, and published his landmark paper in 1945. Prior to this date, autistic children were categorized as either intellectually disabled or suffering from an emotional problem. Kanner noted that these children were not necessarily retarded, and their pattern of behavior was quite different from other emotionally disturbed children. He concluded that this was a new condition. Around the same time, Hans Asperger independently made the same observations. Although there was considerable overlap in the clinical features, Asperger’s subjects tended to be less severely affected, could speak, and had a higher IQ.

Over the years, there has been an evolution in the definition of autism. Since Kanner’s first publication, the syndrome has been broadened to include less severely affected cases. The precise definition of autism will determine who is included or excluded in the diagnosis and will therefore affect researches on its prevalence. Kenner reported a rate of occurrence of one in 10,000 whereas more recently the rate has been quoted as 15 in 10,000. Kanner initially only included subjects who were clearly not intellectually disabled, as this was the unexplained group of people at the time. Subsequently, it was observed that about three-quarters of autistic children were also intellectually disabled. The inclusion of intellectually disabled subjects explains the apparent increase in the reported rates of occurrence.

Other terms that have been applied to what we now call autism include "infantile autism", Asperger syndrome, and Kanner syndrome. The term "childhood schizophrenia" is also an old term, but is no longer used.

Characteristic Behavior

The degree of severity of autism differs from person to person, but usually includes the following characteristic behavior.

Severe Delays in understanding Social Relationships

The autistic child usually has poor eye contact, does not like being held, resists being picked up, and is often oblivious to his surroundings. He is a loner, preferring to play by himself, does not develop friendships easily and is unable to understand other people’s feelings. The autistic child may interact with others but only to obtain objects, or to talk about his own stereotypic interests. Usually he will fail to show reciprocal communications or empathy.

Perception Problems

The child who has autism may also have perception problems. These include a fascination with certain stimuli, such as spinning objects, repetitive movements, and an early interest in shapes, letters and numbers. On the other hand, he may be afraid of loud sounds, such as that of a washing machine or a lorry.

At times an autistic child appears to be deaf, and seems to ignore people. Yet the hearing is actually normal, for he can rush out when he hears a favorite song or TV advertisement being played in the next room. Other sensory inputs may also be affected, such as touch, smell or balance. Children may smell objects or people, flap their hands, spin themselves endlessly, or walk on their toes. In some autistic children, excessive hyperactive behavior or self-injurious behavior can be the main behavioral problem. They may be annoyed when touched, held or carried. Certain textures, colors, and foods may be intensely disliked.

Restricted Play and Interests

Play patterns of autistic children lack variety and imagination. Some may perform repetitive or stereotypic body movements such as flapping, waving, spinning, rolling or lining up toys. They may press the buttons of a telephone or an electric switch, or open and close drawers incessantly. The individual may also display repetition by following the same routine. If you disturb the pattern of play or alter the set routine, the child often exhibits severe tantrums. Imaginative play and role play are usually missing.

Communication Problems

A communication problem such as a lack of speech development is usually the main reason why parents refer their child for diagnosis. Parents may also note that their child does not point, has not developed any gestures, has a limited babbling repertoire and makes repetitive stereotypic sounds. Language is extremely slow to develop, if at all. When it does eventually develop, it usually includes peculiar speech patterns and the use of words without attachment to their normal meaning. Some may echo another person’s speech (echolalia), confuse the use of the pronouns "you" and "I", use unusual metaphors and speak in a monotonous voice. Speech is reduced to requests and protests only, and is rarely used for descriptions, information or questions.

Uneven Patterns of Intellectual Functioning

Some autistic individuals may have islands of competence, where they may have normal or advanced levels of skill or ability. This includes abilities such as drawing, music mathematical computations, rote memorization of facts or calendar memory. The isolated abilities are referred to as "savant" skills.

However, the majority of autistic persons are usually intellectually disabled, with only about 20 per cent having average or above-average intelligence. This combination of intellectual disability and savant skills makes autism especially puzzling.

Similar Conditions

Symptoms of autism may be present in several other diseases. It is important to make an accurate diagnosis and differentiate autism from other disorders, because an incorrect diagnosis may lead to referral to inappropriate specialists, and ineffective treatment instituted. Diseases that have autistic features or may mimic autism include:

Asperger Syndrome

This condition is now considered to be part of the autistic spectrum, but at the milder end. Subjects usually display average or above average intelligence and language ability is preserved.

Deafness

Some children display symptoms that may superficially resemble autism. These children are later diagnosed to have hearing impairment without autism. However, hearing problems and autism are not mutually exclusive, and may sometimes coexist. Therefore, hearing must be checked in all children presenting with autistic features or speech delay.

Rett Syndrome

This is a rare disorder affecting girls only, characterized by stereotypic hand-wringing movements, and there may be some autistic features.

Landau-Kleffner Syndrome or Acquired Childhood Epileptic Aphasia

This is also quite a rare condition. The classical child with this disease exhibits normal development, including language development, in the first few years of life. Later, the child can express what he wants, but may have difficulty understanding what someone else is trying to tell him. Speech may consist of very few words, and has been described as "telegraphic speech". Hearing impairment i often suspected, and the affected child may have some insight and may be perplexed by his behavioral changes. Behavior may have autistic features, and there is often an average of above-average nonverbal IQ score. The brain wave test (EEG) is usually abnormal, and it may or may not be associated with overt seizures.

Obsessive-Compulsive Disorder (OCD)

An obsession is an unwanted preoccupation with a fixed idea which is often accompanied by symptoms of anxiety. Compulsions are irresistible impulses to act, regardless of the rationality of the motivation. One classical manifestation of OCD is a person who repeatedly washes his hands, even when they are clean. This condition is thought to be a neurological disorder which can be treated with specific anti-compulsive medication.

Schizophrenia

Schizophrenia is an illness of the mind characterized by withdrawal, hallucinations, and thought dissociation. An affected individual may have behavior resembling autism. It usually affects adolescents and young adults. The term "childhood schizophrenia" used to be used interchangeably with autism, but it is now considered outdated, and no longer used.

Fragile-X Syndrome

The Fragile-X syndrome is not a common cause of intellectual disability in Asia. Occasionally the affected person may have autistic symptoms. It is more common in males. In the West, it affects one in 1,500 males, and one in 2,500 females. The expression of this condition is unusual in that sometimes a carrier male might show no symptoms, while a carrier female may manifest all the symptoms. The condition is diagnosed by demonstrating increased fragility of the X chromosome when exposed to certain chemicals.

Semantic-Pragmatic Disorder

This is a complex disorder affecting a person’s comprehension and communication. Fine motor difficulties, delay in social behavior and patchy academic skills can be observed.

Hyperlexia

Hyperlexia is a condition in which there is early development of an ability to read. Paradoxically, there is impaired language development, and impaired social and behavioral skills. Some people regard this condition to be part of the autism spectrum.

Epidemiology

Autism affects about 15 out of every 10,000 individuals, and is four times more common in boys than girls. It occurs worldwide, regardless of race, ethnic or socioeconomic groups.

Causes

While autism is widely recognized as a developmental disorder of the brain involving neuronal organization, the specific cause of autism is still unknown. Research suggests physical problems affecting those parts of the brain involved in communication and social behavior. There may be genetic factors giving rise to biochemical abnormalities and aberrant wiring of the network of nerves in the brain, but the precise faults have not been fully defined. Autism is probably not a homogeneous condition, and it seems most likely that the cause is biological rather than psychological. The following findings may be considered as evidence in favor of a biological basis of autism:

- The repeated observation that boys predominate, with a ratio of three or four boys to one girl.

- Nearly every twin study has shown that autism affects both twins only when they are identical.

- Autistic symptoms may be manifest in children with organic brain damage.

- Earlier studies using magnetic resonance imaging (MRI), which maps brain structure, suggested that there were minor changes in some autistic individuals’ brains. However the majority of MRI scans in autistic children is normal, without obvious structural abnormalities.

- Evoked potentials have indicated abnormalities in higher cortical sensory perception, complex memory abilities, higher-order language and problem-solving abilities.

- There is a 25-fold increase in epileptic seizures in subjects with autism and autistic-like conditions. When the electrical activity of the brain (EEG) is recorded, definite abnormalities can be observed, but the patterns are not unique to autism.

- Several errors in the body’s metabolism have been associated with autism. The best documented condition is phenylketonuria, a condition in which the body cells are unable to process one of the milk protein building blocks, leading to a series of biochemical reactions eventually giving rise to intellectual disability.

Treatment

Autism is amenable to treatment. Early diagnosis and intervention are vital to the future development of the child. Special educational programs using behavioral methods have proven to be the most helpful treatment. Besides established behavioral treatment programs such as the one by Lovaas, Schopler and Mesibov, a variety of treatment programs have been described, such as:

- Neurosensory (facilitated communication, auditory integration training, sensory integration therapy).

- Psychodynamic (holding therapy, psychotherapy and psychoanalysis).

Behavior Treatment

Prior to the 1960s, most autistic patients ended up in institutions. Behavior therapy was introduced by Lovaas and his students, and its success has given some hope to autistic children and their families. It consisted of intensive and individualized training for autistic children under five years old. The result was that about half the children were integrated back into normal schools. Behavior therapy has subsequently been shown to be the most effective form of treatment of autism, compared to any other treatment modalities. The objectives of this treatment include changing the autistic child’s behavior so that it is more "normal", and the development of his skills in various areas (language, learning, socializing, play).

To reduce abnormal behavior of autistic children, an objective assessment is necessary, including the frequency, duration and intensity of the abnormal behavior. It is important to observe when the behavior problem occurs, and whether or not there are any triggering factors. Some children can only communicate their needs through a pattern of behavior that draws attention to themselves. Intervention through a training program, dealing with underlying causes or trigger mechanisms, is used to rectify the behavioral problems. Positive behavioral methods, such as reinforcing or shaping desired behavior, have been shown to be more effective in the long term, than punitive measures. Aversives, such as time out, should be considered as a last resort, and should only be used with the full consent of professionals and parents.

Autistic children need highly structured teaching methods for effective learning. Depending on the severity of the disorder, the most appropriate teacher:student ratio, teaching environment, and teaching methods have to be chosen. Autistic children with severe behavioral problems need more individualized attention and one teacher may only be able to manage one or two students at a time. "Learning trials" with simple repetitive instructions, effective prompts and incentives are required. Later a more naturalistic teaching setting and natural teaching methods can be used, and a teacher may be able to handle more students at a time. Motivating the autistic child is important. Praise or hugs are not always effective. Therefore, one has to find if there are any favorite toys, activities, food, drinks or even self-stimulation that can motivate the child. Teaching autistic individuals self-management has been shown to be effective in enhancing communication, social behavior, play and independence.

After an accurate assessment of the child’s abilities, specific learning objectives are set, preferably with the active participation of the parents. Parent training helps provide them with effective teaching methods which can enhance the child’s learning, especially when he is at home. Goals should be functional, which means that they should be of relevance to the child’s daily life, such as: "If you want to watch TV, you must say: I want to watch TV." "How many pairs of chopsticks do you need?" The curriculum is individualized and comprises small steps.

Real Situations

Autistic subjects have difficulty transferring what they have learnt in one specific situation to more general applications. One way to develop this particular skill is to help them practise the skill in a variety of real situations. A systematic training program for generalizing learned behavior, using different objects, persons and settings, is drawn up.

Mainstreaming (Inclusion or Integration)

Th initial rationale for teaching autistic children in a regular classroom without a trained teacher or an appropriately-adapted classroom, was because there was a shortage of such teachers, and there were insufficient numbers of autistic children to make it economical to have purpose-built facilities. However, it was noticed that some autistic children actually made greater progress when integrated in a regular classroom, than in segregated special classes. This led to the "mainstreaming" movement. By decreasing the class size and providing additional support staff, one could prevent one of the main undesirable consequences of mainstreaming, and that is to ignore or "maindump" the autistic child. Mainstreaming gave autistic children the opportunity to use normal children as role models for behavior and social interaction and, because of such immediate comparisons, teachers generally had higher expectations for them. However, autistic children in an integrated classroom may not have enough intensive skills training, and it may be difficult to individualize the classroom structure and daily routine which may be critical for the autistic child’s education. To address this problem, some countries have adopted the policy of "dual placement", allowing autistic children to attend both specialized and regular schools.

Neurosensory Intervention

Facilitated Communication (FC)

This is a controversial form of therapy. Originally developed for individuals with severe physical disabilities, this technique has been applied to autistic children, to teach them how to communicate. The therapist who does the training is known as a "facilitator". The facilitator guides the hand, and theoretically the autistic child will decide which key or symbol of the specially-adapted keyboard to press. There have been many claims of success. However, detractors would argue that the autistic child can pick up the facilitator’s unconscious preferences from minute hand movements. While experimental evidence has questioned the positive claims by proponents of this method, visual communication systems, such as pictures, word cards or signs, have been successfully used in a subgroup of autistic children.

Auditory Integration Training (AIT)

This is a method of altering a person’s sensitivity to different frequencies of sound. Originally it was used on a person with hearing that was impaired at a certain sound frequency. It was then used on an autistic child, and apparently "cured" her. Studies comparing sound sensitivity of subjects undergoing AIT and subjects listening to unmodulated music did not show decreased sensitivity for the experimental group.

Sensory Integration Therapy

This is a technique designed to help individuals who are under- or over-sensitive to one or more of the five senses by providing specific sensory experiences, such as spinning them, swinging them, and getting them to jump up and down.

Holding Therapy

This form of therapy is controversial. Proponents of this therapy believe that holding the autistic child tightly in the mother’s arms provides sensory stimulation and a bonding experience. Critics argue that the reasoning is fallacious, at least in part, and that forced holding is not beneficial. The Holding Therapy is now considered a form of sensory stimulation that has a strong aversive component for most autistic children.

Drug Therapy

Vitamin B6 (Pyridoxine)

Bernard Rimland has reported some reduction in autistic symptoms when high-dose vitamin B6 with magnesium is orally taken. Improvements in hyperactive as well as obsessive-compulsive behavior has also been observed. Since parents and caretakers are usually aware of the vitamin intake, they are not unbiased or disinterested observers. It may be that their expectancy of efficacy might skew the reported positive changes. Nevertheless, there are enough individual cases of significant improvement to recommend a trial of this vitamin.

Fenfluramine (Slim 10, Ponderax)

Some autistic subjects have elevated blood serotonin levels. Slim 10 or Ponderax, a commonly used drug for the treatment of obesity, is known to decrease blood serotonin levels. However its efficacy is questionable, and there are potential serious side effects. Thus presently, this drug cannot be recommended for the treatment of autistic treatment, let alone obesity.

Clomipramine (Anafranil)

Clomipramine is an antidepressant that can relieve some of the more obsessional or self-destructive symptoms of autism. It appears to have positive benefits on repetitive behavior disorders.

Methylphenidate (Ritalin, Concerta)

Ritalin or Concerta is a member of a group of stimulant drugs which paradoxically suppresses hyperactive behavior. While not specific for autism, it is sometimes used in autistic children who also manifest hyperactive behavior. (Personally I do not find Ritalin very helpful in reducing the hyperactive behavior in autistic children. KL)

Naltrexone (oral version of Naloxone)

Naltrexone is a narcotic antagonist that has been used in some autistic individuals. Although earlier studies supported its efficacy, more recent studies have not confirmed these findings.

Advice for Parents

- Confirm the diagnosis by consulting a professional who has experience with autistic children.

- Behavior treatment using manageable teaching steps should be started as soon as possible. For most autistic children, speech therapy is also advisable.

- Help given by trained parents has been demonstrated to be comparably more effective than training by professionals.

- Join an organization where you can meet other parents of autistic children. Such an association may provide you with opportunities to meet other professionals through talks, workshops and seminars.

For educational intervention, see Asperger Syndrome.

This article first appeared in Rainbow Dreams (2002).