Autism is a developmental disorder that is characterized by impaired development in communication, social interaction, and behavior.
Autism afflicts one out of every 100 to 166 children and it affects the lives of many children and their families. It tends to affect about five boys to every one girl.
Autism is classified as a pervasive developmental disorder (PDD), a category of disorders that is often described interchangeably with the broad spectrum of developmental disorders affecting young children and adults called the autistic spectrum disorders (ASD).
The range of these disorders varies from severely impaired individuals with autism to other individuals who have abnormalities of social interaction but normal intelligence - Asperger's syndrome. The ways in which autism is exhibited can differ greatly. Additionally, autism can be found in association with other disorders such as mental retardation and certain medical conditions.
The degree of autism can range from mild to severe. Mildly affected individuals may appear very close to normal. Severely afflicted individuals may have an extreme intellectual disability and unable to function in almost any setting.
In the past, autism has been confused with childhood schizophrenia or childhood psychosis, and may have been misunderstood as schizotypal personality disorder in some adults. As additional research information about autism becomes available, the scope and definition of the condition continues to become more refined. Some of the past confusion about the disorder has been resolved.
The current Diagnosis and Statistical Manual of Mental Disorders-Fourth Edition, Treatment Revision (DSM-IV-TR) identifies three features that are associated with autism:
- impairment in social interaction,
Impairment in social interaction
Individuals with autism fail to develop normal personal interactions in virtually every setting. This means that affected persons fail to form the normal social contacts that are such an important part of human development. This impairment may be so severe that it even affects the bonding between a mother and an infant. It is important to note that, contrary to popular belief, many, if not most, persons with this disorder are capable of showing affection, demonstrating affection bonding with their mothers or other caregivers.
However, the ways in which individuals with autism demonstrate affection and bonding may differ greatly from the ways in which others do so. Their limited socialization may erroneously lead parents and pediatricians away from considering the diagnosis of autism.
As the child develops, interaction with others continues to be abnormal. Affected behaviors can include eye contact, facial expressions, and body postures. There is usually an inability to develop normal peer and sibling relationships and the child often seems isolated. There may be little or no joy or interest in normal age-appropriate activities. Affected children or adults do not seek out peers for play or other social interactions. In severe cases, they may not even be aware of the presence of other individuals.
Communication is usually severely impaired in persons with autism. What the individual understands (receptive language) as well as what is actually spoken by the individual (expressive language) are significantly delayed or nonexistent. Deficits in language comprehension include the inability to understand simple directions, questions, or commands.
There may be an absence of dramatic or pretend play and these children may not be able to engage in simple age-appropriate childhood games such as Simon Says or Hide-and-Go-Seek. Teens and adults with autism may continue to engage in playing with games that are for young children.
Individuals with autism who do speak may be unable to initiate or participate in a two-way conversation (reciprocal). Frequently the way in which a person with this disorder speaks is perceived as unusual. Their speech may seem to lack the normal emotion and sound flat or monotonous. The sentences are often very immature: "want water" instead of "I want some water please." Those with autism often repeat words or phrases that are spoken to them.
For example, you might say "look at the airplane!" and the child or adult may respond "at airplane," without any knowledge of what was said. This repetition is known as echolalia. Memorization and recitation of songs, stories, commercials, or even entire scripts is not uncommon. While many feel this is a sign of intelligence, the autistic person usually does not appear to understand any of the content in his or her speech.
Persons with autism often exhibit a variety of repetitive, abnormal behaviors. There may also be a hypersensitivity to sensory input through vision, hearing, or touch (tactile). As a result, there may be an extreme intolerance to loud noises or crowds, visual stimulation, or things that are felt.
Birthday parties and other celebrations can be disastrous for some of these individuals. Wearing socks or tags on clothing may be perceived as painful. Sticky fingers, playing with modeling clay, eating birthday cake or other foods, or walking barefoot across the grass can be unbearable.
On the other hand, there may be an underdeveloped (hyposensitivity) response to the same type of stimulation. This individual may use abnormal means to experience visual, auditory, or tactile (touch) input. This person may head bang, scratch until blood is drawn, scream instead of speaking in a normal tone, or bring everything into close visual range. He or she might also touch an object, image or other people thoroughly just to experience the sensory input.
Children and adults who have autism are often tied to routine and many everyday tasks may be ritualistic. Something as simple as a bath might only be accomplished after the precise amount of water is in the tub, the temperature is exact, the same soap is in its assigned spot and even the same towel is in the same place. Any break in the routine can provoke a severe reaction in the individual and place a tremendous strain on the adult trying to work with him or her.
There may also be non-purposeful repetition of actions or behaviors. Persistent rocking, teeth grinding, hair or finger twirling, hand flapping and walking on tiptoe are not uncommon. Frequently, there is a preoccupation with a very limited interest or a specific plaything. A child or adult may continually play with only one type of toy. The child may line up all the dolls or cars and the adult line up their clothes or toiletries, for example, and repeatedly and systematically perform the same action on each one.
Any attempt to disrupt the person may result in extreme reactions on the part of the individual with autism, including tantrums or direct physical attack. Objects that spin, open and close, or perform some other action can hold an extreme fascination. If left alone, a person with this disorder may sit for hours turning off and on a light switch, twirling a spinning toy, or stacking nesting objects. Some individuals can also have an inappropriate bonding to specific objects and become hysterical without that piece of string, paper clip, or wad of paper.
Since autism was first added to the psychiatric literature about fifty years ago, there have been numerous studies and theories about its causes. Researchers still have not reached agreement regarding its specific causes. First, it must be recognized that autism is a set of a wide variety of symptoms and may have many causes. This concept is not unusual in medicine. For instance, the set of symptoms that we perceive of as a "cold" can be caused by literally hundreds of different viruses, bacteria, and even our own immune system.
Although some remain convinced that certain vaccines, vaccine preservatives or medications taken to treat side effects of vaccines that may cause autism, conventional wisdom continues to agree that immunizations do not cause autism.
Autism is thought to be a biologically-based disorder. In the past, some researchers had suggested that autism was the result of poor attachment skills on the part of the mother. This belief has caused a great deal of unnecessary pain and guilt on the part of the parents of children with autism, when in fact, the inability of the individual with autism to interact appropriately is one of the key symptoms of this developmental disorder.
In support of a biological theory of autism, several known neurological disorders are associated with autistic features. Autism is one of the symptoms of these disorders.
These conditions include:
- tuberous sclerosis and the fragile X syndrome (inherited disorder);
- cerebral dysgenesis (abnormal development of the brain);
- Rett syndrome (a mutation of a single gene);
- some of the inborn errors of metabolism (biochemical defects).
Autism, in short, seems to be the end result or "final common pathway" of numerous disorders that affect brain development. Also, brain studies have demonstrated that persons with autism tend to have a number of abnormalities in brain size. In general, however, when clinicians make the diagnosis of autism, they are excluding the known causes of autistic behaviors.
However, as the knowledge of conditions that cause autism advances, fewer and fewer cases will likely be thought of as being "pure" autism and more individuals will be identified as having autism due to specific causes.
There is a strong association between autism and seizures. This association works in two ways: first, many patients (20% to 30%) with autism develop seizures. Second, patients with seizures, which are probably due to other causes, may develop autistic-like behaviors. One special and often misunderstood association between autism and seizures is the Landau-Kleffner Syndrome.
This syndrome is also known as acquired epilepticaphasia. Some children with epilepsy develop a sudden loss of language skills-especially receptive language (the ability to understand). Many often also develop the symptoms of autism.
These children often, but not always, have a characteristic pattern of electrical brain activity seen on EEG (electroencephalogram) during deepsleep called electrographic status epilepticus during sleep (ESES).
The usual age of onset of language loss or regression is around four years of age, which makes the Landau-Kleffner syndrome distinguishable from autism on these grounds, in that autism usually is first exhibited in younger children. However, in recent years, some children (very, very few) who did not exhibit overt (observable) seizures were found to have Landau-Kleffner syndrome.
The importance of these findings is that, although rare, the Landau-Kleffner syndrome can resolve spontaneously and in some cases can be treatable with prednisone, a steroid medication related to cortisone. This association between the Landau-Kleffner syndrome and autism has led many clinicians and families to search for the typical EEG pattern (ESES) in individuals with autism.
This unusual EEG pattern is seen only in deep sleep, which usually requires prolonged recordings of up to 12 hours. Many, many children and adults with this disorder will display some abnormalities on their sleep EEG, but probably very few have true Landau-Kleffner syndrome that will respond to treatment.
It must also be noted that prednisone, in the very high doses used to treat Landau-Kleffner syndrome, almost invariably produces side effects, which may include weight gain, high blood pressure, diabetes, growth failure, stomach ulcers, irritability, destruction of the hip joint, and susceptibility to infectious disease (suppressed immune system). While most of these side effects are reversible, some of the complications of high dose prednisone therapy can be irreversible and even fatal.
Other treatments ranging from common anticonvulsant therapy to surgery have been proposed and are being tried for Landau-Kleffner syndrome. It is difficult to evaluate the true effects of any treatment for Landau-Kleffner syndrome due to the high rate of spontaneous resolution of symptoms (remission).
Misinformation about autism is very common. Claims of a cure for autism are constantly presented to families of individuals with autism. There are various treatment models found within both the educational and clinical settings. Yet, there is only one treatment approach that has prevailed over time and is effective for all persons, with or without autism.
That treatment model is an educational program that is suitable to a student's developmental level of performance. For adults, that treatment model refers to a vocational program that is suitable to the individual's developmental level of functioning.
Under the Individuals with Disabilities Educational Act (IDEA) Act of 1990, students with a handicap are guaranteed an "appropriate education" in the Least Restrictive Environment (LRE), which is generally considered to be as normal an educational setting as possible.
As a result of this legislation, children with autism have often been placed in a mainstreamed classroom and pulled out for whatever supplementary services were needed. Depending on the child's needs, he or she could be placed up to 100% of the school day in a mainstreamed or a special education setting or any combination of the two.
There is an increasing trend, however, among the advocates for children with autism, to segregate these children into small, highly structured and controlled academic settings that are almost free from auditory and visual stimulation. All instruction is broken down into manageable segments. Information is presented in tiny units and the child's response is immediately sought.
A classic stimulus-response approach is used to maximize learning. Each unit of information is mastered before another is presented. A fundamental behavior such as putting hands on the tabletop, for example, must be mastered before the child is required to perform any other tasks, or before more information is presented. The long-term effects of this type of treatment as well as the ability of the child to transfer this to a broader context continue to be evaluated.
For people with autism whose symptoms include self injurious behaviors, the focus of treatment has shifted from restriction and punishment to more of a focus on understanding potential motivators for negative behaviors, as well as rewarding and otherwise encouraging appropriate behaviors.
Individuals with autism need to be taught how to communicate and interact with others. This is not a simple task, and it involves the entire family as well as other professionals. Parents of a child or adult with autism must continually educate themselves about new treatments and keep an open mind.
Some treatments may be appropriate for some individuals but not for others. Many treatments have yet to be scientifically proven. Treatment decisions should always be made individually after a thorough assessment and based on what is suitable for that person and his or her family.
It is important to remember, despite some recent denials, that autism is usually a lifelong condition. The kind of support that is appropriate will change as the individual develops. Families must beware of treatment programs that give false hope of a cure. Acceptance of the condition in a family member is a very critical, foundational component of any treatment program and is understandably quite difficult.
Several medications have been tried or are under current scrutiny for the treatment of autism. No medication has consistently proven to be of benefit for either curing or comprehensively managing autism in closely controlled clinical trials.
In the past, a piece on a television news show prompted a great deal of interest in the hormone secretin as a treatment for autism. A child with autism who has with chronic gastrointestinal complaints showed dramatic improvement following some routine testing performed by a gastroenterologist during which a small dose of secretin was administered. The family and their physicians felt that the secretin may have resulted in the improvement in the symptoms of autism.
Many physicians began prescribing secretin, which can be costly for their autistic patients. However, studies published appear to completely refute the claim that secretin treatment benefits autistic patients. This example underscores the importance of good clinical trials in determining whether a drug will help patients with autism.
Some medications have been found to help address some symptoms that may present in autism. For example, haloperidol (Haldol), is thought to help treat aggression and methylphenidate has been determined to be helpful in addressing hyperactivity in persons with autism. Risperidone (Risperdal) has been found to be quite helpful in many people whose autistic symptoms include odd, repetitive behaviors (stereotypies), hyperactivity, irritability, throwing tantrums, being aggressive towards others of injuring oneself.
Persons with autism seem to have a higher mortality rate at younger ages compared to average individuals. This is particularly true for mortality that is related to seizures or infection. It is, therefore, important for the autistic population to receive good medical care from practitioners who have knowledge and experience in addressing their unique medical needs. Due to a number of potential factors, autistic persons tend to be vulnerable to nutritional problems.
Specifically, factors like variations in appetite, refusal of many foods, food allergies and side effects to some medications can disproportionately impact the food intake, and therefore the nutritional status of this population. As individuals with autism also seem to be vulnerable to emotional struggles like anxiety, depression and attention problems, the involvement of mental health professionals should be sought when appropriate.
Psychotherapeutic approaches that have been found to help improve functioning in some persons with autism include comprehensive behavioral therapy to address problematic behaviors. Social skills training and support are important in helping people with autism navigate interactions with others, since many of this population crave social interaction despite their limitations in engaging others socially.
Cognitive behavioral treatment in verbal individuals with anxiety and voice output communication who are less verbal are considered promising areas of treatment as well.