Autism

views updated Jun 11 2018

Autism

Definition

Description

Causes and symptoms

Demographics

Diagnosis

Treatments

Prognosis

Prevention

Resources

Definition

The term “autism” refers to a cluster of conditions appearing early in childhood. All involve severe impairments in social interaction, communication, and patterns of rigid, repetitive behaviors. To be considered a manifestation of an autistic disorder, some of these impairments must be exhibited before the age of three.

The reference book used by mental health professionals to diagnose mental disorders is the Diagnostic and Statistical Manual of Mental Disorders, also known as the DSM. The 2000 edition of this reference book (the Fourth Edition Text Revision known as DSM-IV-TR) places autism in a category called pervasive developmental disorders. All of these disorders are characterized by ongoing problems with mutual social interaction and communication, or the presence of stereotyped, repetitive behaviors and unusual interests, and activities. People diagnosed with these disorders are affected in many ways for their entire lives.

Description

Because autism is a spectrum disorder, each child diagnosed with an autistic disorder differs from every other in the suite of symptoms they display and the characteristics and intensity of those symptoms; thus, general descriptions of autistic behavior and characteristics do not apply equally to every child. Still, the common impairments in social interaction and communication, and patterns of rigid, repetitive behaviors can make it possible to recognize children with these disorders, who may differ markedly from neurotypical children in many ways.

Many parents of autistic children sense that something is not quite right even when their children are infants. The infants may have feeding problems, dislike being changed or bathed, or fuss over any change in routine. They may hold their bodies rigid, making it difficult for parents to cuddle them. Or, they may fail to anticipate being lifted, lying passively while the parent reaches for them, rather than holding their arms up in return. Most parents of autistic children become aware of the atypicality of these and other behaviors only gradually.

Impairments in social interaction are usually among the earliest symptoms to develop. The most common social impairment is a kind of indifference to other people, or aloofness, even towards parents and close caregivers. The baby may fail to respond to his or her name being called and may show very little facial expression unless extremely angry, upset, or happy. Babies with autism may resist being touched and appear to be lost in their own world. Between seven and 10 months of age, most infants often resist being separated from a parent or well-known care-giver, but these infants who are later diagnosed with autism may show no emotion when picked up by a stranger.

Other children with autism may be very passive, although less resistant to efforts by others to interact. However, they may not initiate social interaction themselves. Still others may attempt to engage with adults and peers but in ways that strike others as inappropriate or odd.

Because autistic children can be extremely sensitive to change, any change within the family situation can be potentially traumatic to the autistic child. A move, divorce, birth of a sibling, or other stressors that occur in the lives of most families may evoke a more extreme reaction from an autistic child.

In adolescence and adulthood, some higher-functioning people with autistic disorders may appear overly formal and polite. They may appear to react with little spontaneity, as if social interaction does not come naturally or easily to them, as though they are trying to follow a pre-determined set of rules.

Some people with autism have normal intelligence, and some may exhibit special talents in areas such as music or memory. However, persons people with autism can have mental or emotional problems that co-exist with their autism. Some of these other disorders include impulse control disorders, obsessive-compulsive disorder, mood and anxiety disorders, and mental retardation.

Causes and symptoms

Causes

PSYCHOLOGICAL AND FAMILY FACTORS

Although Henry Maudsley, in the late 1800s, was the first psychiatrist to focus on very young children with mental disorders, it was the psychiatrist Leo Kanner who coined the phrase “early infantile autism” in 1943. Kanner believed that the parents of children with autistic behaviors were emotionally cold and intellectually distant. He coined the term “refrigerator parents” to describe them. His belief that parental personality and behavior played a powerful role in the development of autistic behaviors left a devastating legacy of guilt and self-blame among parents of autistic children that continues to this day. Recent studies are unequivocal, however, in demonstrating that parents of autistic children are no different from parents of healthy children in their personalities or parenting behaviors. In fact, many families with an autistic child also have one or more neurotypical children.

NEUROLOGICAL AND BIOLOGICAL FACTORS

While there is no single neurological abnormality found in children with autistic disorders, some research using non-invasive brain imaging techniques such as magnetic resonance imaging (MRI) has demonstrated notable differences between the brains of people with autism and neurotypical brains. Several of the brain areas being researched are known to control emotion and the expression of emotion. These areas include the temporal lobe (large lobe of each side of the brain that contains a sensory area associated with hearing), the limbic system, the cerebellum, the frontal lobe, the amygdala, and the brain stem, which regulates homeostasis (body temperature and heart rate). Among other findings, the brains of some but not all children with autism are abnormally large, and abnormalities in head growth may be manifest even in infancy. Studies also have identified differences between people with and without autism and brain chemical concentrations, volume, and distribution of gray and white matter (nerve cell bodies and their axons), and hemispheric connectivity. There are still no imaging techniques that can be used as definitive diagnostic approaches. Recent research has focused particularly on the temporal lobe because of the finding that previously healthy people who sustain temporal lobe damage may develop autistic-like symptoms. In animal research, when the temporal lobe is damaged, social behavior declines, and restless, repetitive motor behaviors are common.

Although some research initially indicated an association between many events at birth and autism, subsequent studies have not supported many of these findings. There also has not been substantiation of a finding that meconium (the product of the fetal bowel) in amniotic fluid might have linked to autism. Some studies have found a link between maternal age over 35 years and autism and use of medication during pregnancy and autism. Factors related to intrauterine growth and fetal distress (Apgar score lower than 5) may be related to the development of autism. Many studies suggest that in utero (i.e., prenatal) events and genetics play a mixed role in the development of autism.

ALLERGIES, INFECTIONS, AND IMMUNIZATIONS

Some professionals believe that autistic symptoms may be caused by allergies to particular fungi, viral infections, and various foods. No controlled studies have supported these beliefs, but some parents and professionals report improvement when allergens and/or certain foods are eliminated from the diet.

Viral infections of the mother, such as rubella, or of the young child, such as encephalitis, mumps, and measles, occasionally appear to cause autistic disorders. The common childhood immunization series known as MMR (measles, mumps, rubella) has recently come under scrutiny as a possible cause of some autistic conditions; however, no further clinical, animal, or epidemiological studies have supported this finding.

Very rarely, autism is associated with hereditary disorders, such as tuberous sclerosis or fragile X syndrome, which is the leading cause of mental retardation.

Symptoms

DSM-IV-TR specifies three diagnostic categories, each with four components, that are used to make a diagnosis of autistic disorder. These diagnostic categories are impairments in social interaction, communication, and particular patterns of behavior. More information about the individual diagnostic categories and components follows.

SOCIAL INTERACTION

Qualitative impairment in social interaction, as demonstrated by at least two of the following:

  • impairment in the use of nonverbal behaviors such as eye contact, facial expression, body posture, and gestures used for social interaction
  • failure to develop age-appropriate peer relationships
  • lack of attempts to share pleasure, activities, interests, or achievements with other people (e.g., by failing to bring items of interest to a parent, or pointing out animals or objects)
  • inability to respond to social situations or other people’s emotions with empathy or a concerned attitude

COMMUNICATION

Qualitative impairments in communicating in at least one of the following four areas:

  • lack of, or delay in development of spoken language, without attempts to communicate through alternative means such as gestures or mime
  • in individuals who do speak, severe impairment in the ability to initiate or sustain a conversation with others
  • repetitive and stereotyped use of language, or use of words in unusual, idiosyncratic ways
  • failure to show imaginative play, such as make-believe or social imitative play appropriate to developmental level

BEHAVIOR

Restricted, repetitive, and stereotyped patterns of behavior, interests, and activities, as demonstrated by at least one of the following:

  • unusual and overly absorbing preoccupation with one or more interests or activities
  • a need for rigid adherence to specific routines or rituals in daily life
  • stereotyped and repetitive motor behaviors using parts of the body such as fingers, hands, or the whole body
  • persistent preoccupation with parts of objects

Demographics

Autistic disorders strike families of all ethnic and socioeconomic backgrounds. Men are affected more frequently than women by a ratio as high as 4:1. In recent years, autism rates appear to have spiked, according to some reports by as much as several hundred percent. It is difficult for epidemiologists to determine whether or not this rise is attributable to better diagnosis and greater general awareness of symptoms or to a genuine increase in cases. Some recent studies have concluded that there is not a true increase in the incidence of autism and that broader criteria and increased awareness on the part of doctors explain the increase. Early studies suggested a prevalence rate of four to 10 cases per 10,000 children. The most recent studies have suggested a much higher prevalence, as high as 60 cases for every 10,000 children, or between three and six cases per 1,000. Rates reported in different studies can vary based on the population being assessed.

Autism recurs in siblings at a rate of 2-8%, higher than its prevalence in the general population but considerably less than would be expected if it were attributable to a single gene. Studies of monozygotic (identical) and dizygotic (fraternal) twins show a 60% concordance rate for identical twins and a rate of 0% for fraternal twins, indicating that autism has a strong heritable element.

Diagnosis

Because young infants are so limited in their range of behavior, autistic disorders are generally discovered gradually, and rarely diagnosed before the age of two or three. Parents may not realize that their baby’s behavior is different from that of other infants until he or she reaches an age where a wide range of behaviors are typically displayed. Most doctors may attempt to reassure concerned parents of infants under two years that their children are “normal,” or will “grow out of” a disturbing behavior, because many children do. At the time that speech and language usually develop, parents are more likely to observe that their autistic child is not at the same level as other children the same age. Once the child is old enough to play with other children, it becomes more apparent that the autistic child either is not interested in doing so, or does so in unusual ways that differ from most children of the same age. Motor development may also appear unusual, with repetitive motions such as spinning, self-injurious behaviors such as headbanging, and rocking back and forth, giving the parents strong clues that their child behaves differently from others.

The child who continues to display unusual behaviors at about the age of two years would most likely receive a referral from the pediatrician to a child psychiatrist, developmental pediatrician, or early intervention program with a multi-disciplinary staff including psychiatrists, psychologists, and social workers. These professionals would be the ones to diagnose autistic disorder, and, ideally, offer an early intervention program simultaneously. To reach a diagnosis, the professional(s) would observe the child both with and without parents present, interview the parents about the pregnancy, birth, siblings, family history, and early behaviors, and possibly administer an assessment like the Bayley scales of infant development.

Differential diagnosis

Differential diagnosis is the process of distinguishing one disorder from other similar disorders. Because there are currently no medical tests (such as a blood test) to detect autism, the diagnosis is often established by ruling out other disorders and clarifying the distinguishing characteristics of autism disorder versus other pervasive developmental disorders, such as Asperger syndrome.

MENTAL RETARDATION

Mental retardation is present with autism in about 70% of cases. What distinguishes children with mental retardation who do not have autistic symptoms from those who do is evenness of development. Children with mental retardation tend to exhibit a more even level of functioning in all areas, whereas autistic children tend to exhibit extreme variability within areas and between areas. Children with autistic disorders show uneven development in areas such as motor, language, and social skills. A child with autism may have high-level cognitive functioning in one area, but low-level cognitive functioning in another area, for example. Or a child with autism may exhibit delayed cognitive development, but normal motor skills development. For this reason, autism is often referred to as a “spectrum disorder” because of the large spectrum or range of variability in symptoms and functioning. Also, many children with mental retardation relate well to people and enjoy social connection, which is rare for autistic children.

LANGUAGE DISORDER

Children with autistic disorders may appear similar in some ways to children with language disorders. Unlike autistic children, however, children with language disorders exhibit neurotypical responses to most people, situations, and objects. They make eye contact and show interest in peer and adult relationships.

CHILDHOOD SCHIZOPHRENIA

Schizophrenia is a disturbance of emotion and thought processes that rarely occurs in young children. When it does, it is characterized by hallucinations and delusions—seeing and hearing things that are not there, for example. These are not symptoms that appear among autistic children.

DEGENERATIVE ORGANIC BRAIN DISORDER

This is an extremely rare condition that may at first appear similar to autistic disorders. In degenerative organic brain disorder, the child begins to develop normally, but over time, speech, language, motor skills and other age-appropriate behaviors disintegrate and do not return. The disintegration is progressive. In children with autistic disorders, some children may begin to develop words and language and then lose them at around eighteen months. However, with appropriate education, these skills can be relearned and surpassed by the autistic child.

Treatments

Autistic disorders cannot be cured, but children who have these disorders can make considerable progress in all areas of life. Depending upon the level of intellectual function, it is possible for some children with autism to become functioning, semi-independent or independent adults capable of working and enjoying some social relationships. Parenting a child with autism can be extremely challenging, however, and many families find support groups to be helpful. Both medication and psychosocial therapies (therapies that address both psychological and social issues) can help ameliorate troubling symptoms. Education is key for helping these children learn socially acceptable behaviors, decreasing odd mannerisms and behaviors, and increasing appropriate verbal and non-verbal language skills.

Education

Most educational programs for children with autistic disorders involve small, specialized classes with teachers specially trained to work with autistic children, although schools generally make efforts to “mainstream” children with special needs as much as possible, using classrooms aides and other resources. Research has shown that autistic children need regular, daily structure and routine, and they maintain their skills best when there are not frequent disruptions of their daily school program.

One method that has been used extensively both within the classroom and at home is a behavior modification method known as Applied Behavior Analysis, or ABA. Specially trained teachers break down large goals into small steps that are taught and repeated until the child masters each one. Slowly, step by step, more appropriate patterns of behavior and communication are formed or shaped in this way. Positive reinforcement is used in many forms, such as praise (for those children who are motivated by it), time permitted to engage in a favorite activity, or a small favored food item. For ABA to be most effective, parents need to be trained to use these same skills to continue the work at home.

Medications

Although no one drug is helpful to children with autistic disorders, several medications are currently used, along with education, to reduce severe temper tantrums and destructive aggression, self-injurious behaviors, hyperactivity, and unusual, repetitive behaviors. Medications may also help the autistic child become more receptive to learning and relating to others. Some of the medications commonly used include risperidone (Risperdal), and haloperidol (Haldol). Although there are side effects associated with these medications, careful dosing and use of other medications to counteract side effects often enable the autistic child to function more effectively.

Non-conventional treatments

One non-conventional and experimental treatment for autism is the use of secretin, a hormone produced in the small intestine that stimulates the pancreas to release sodium bicarbonate and other digestive enzymes. Studies have found no improvement from secretin administration in autism in general, although it may effect some improvement in a specific population subset.

Another experimental treatment involves Candida albicans, the technical term for a common yeast that is found in the human body. Some scientists believe that an overgrowth of this yeast may cause or worsen autism. Some reports indicate that children treated with anti-yeast medications improve in eye contact, social abilities, language skills, concentration, and sleep, and that they show a reduction in aggressive and hyperactive behavior.

An additional non-conventional treatment being researched for autism is a nutritional supplement, vitamin B6. Some experts believe that vitamin B6 holds promise for reducing autistic symptoms and helping autistic children progress in all areas. It may be combined with magnesium and the combination appears to have no known side effects. Improvements attributed to these supplements in some studies include enhanced language, eye-contact, and behaviors, as well as more normal brain activity and improved immune system functioning.

KEY TERMS

Impulse control disorders —Group of disorders characterized by impulsive behavior, such as stealing.

Obsessive-compulsive disorder —Disorder in which the affected individual has an obsession (such as a fear of contamination, or thoughts he or she does not like to have and cannot control) and feels compelled to perform a certain act to neutralize the obsession (such as repeated handwashing).

Temporal lobe —Large lobe of each side of the brain that contains a sensory area associated with hearing.

These treatments remain outside mainstream medicine, however, and research is ongoing as to their efficacy. Parents interested in these therapies may wish to discuss them with their child’s health care team.

Prognosis

Autistic disorders follow a continuous course throughout life. Autistic individuals with higher levels of intelligence may become able to work and live independently or, more frequently, semi-independently. This is especially true for those with IQ scores of 70 or higher. One in six children with autism becomes a well-adjusted adult. Another one out of six achieves a fair degree of adjustment in adult life. Others may never be able to leave the structured environment of home or, later, special group home placement. During adolescence, sexual feelings emerge that a teen with autism may find difficult to handle appropriately. Supervision throughout life is needed for the majority of individuals diagnosed with these disorders.

Prevention

At present, no specific means of preventing autistic disorders exist. Because of an elevated likelihood of giving birth to more than one autistic child exists, genetic counseling is recommended.

Resources

BOOKS

American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 4th ed., text rev. Washington, D.C.: American Psychiatric Association, 2000.

Hamilton, Lynn, Facing Autism. Colorado Springs, CO: WaterBrook Press, 2000.

Kaplan, Harold, MD, and Benjamin Sadock, MD. Synopsis of Psychiatry. 8th ed., rev. Baltimore, MD: Lippincott Williams and Wilkins, 1998.

Powers, Michael, Psy.D., ed. Children with Autism: A Parent’s Guide. 2nd ed. Bethesda, MD.: Woodbine House, 2000.

Wing, Lorna, MD. The Autistic Spectrum. Berkeley, CA: Ulysses Press, 2001.

PERIODICALS

Hultman, Christina M., Par Sparen, and Sven Cnattingius, “Perinatal risk factors for infantile autism.” Epidemiology 13 (2002): 417–23.

Lainhart, Janet E. “Advances in autism neuroimaging research for the clinician and the geneticist.” American Journal of Medical Genetics Part C 142C (2006): 33–39.

Larsson, Heidi J., and others. “Risk factors for autism: perinatal factors, parental psychiatric history, and socioeconomic status.” American Journal of Epidemiology 161 (2005): 916–25.

Maimburg, R.D., and M. Vaeth. “Perinatal risk factors and infantile autism.” Acta Psychiatry Scandinavia 114 (2006): 257–64.

Muhle, Rebecca, Stephanie V. Trentacoste, and Isabelle, MD Rapin. “The genetics of autism.” Pediatrics 113 (2004): e472-e486.

Taylor, B. “Vaccines and the changing epidemiology of autism.” Child: Care, Health, and Development 32 (2006): 511-9.

ORGANIZATIONS

American Psychiatric Association. 1400 K Street NW, Washington, DC 20005.

Autism Network International, P.O. Box 448, Syracuse, NY 13210-0448. <http://www.students.uiuc.edu/-bordner/ani/>.

The Autism Society of America. 7910 Woodmont Avenue, Suite 300, Bethesda, MD 20814-3015. <http://www.autism-society.org>.

Families for Early Autism Treatment (F.E.A.T.). P.O. Box 255722, Sacramento, CA 95865-1536. <http://www.feat.org>.

Families Working Together. 12400 Cypress Avenue, Space 20, Chino, CA 91710. <http://www.ucddfam.com>.

Barbara S. Sternberg, Ph.D.

Emily Jane Willingham, Ph.D.

Aventyl see Nortriptyline

Autism

views updated May 21 2018

Autism

Definition

Autism is a potentially severe neurological condition affecting social functioning, communication skills, reasoning, and behavior. It is considered a spectrum disorder, meaning that the symptoms and characteristics of autism can present themselves in a variety of combinations, ranging from extremely mild to quite severe.

Description

Autism is a neurological disorder that affects a persons ability to communicate and form relationships. Individuals with autism have deficits in social interaction, communication, and understanding. Some individuals with autism have unusual repetitive behaviors, such as head banging, rocking, and hand-flapping. Up to 75–80% of individuals with autism are mentally retarded; only a small portion of this group (15–20%) have severe mental retardation. Additionally, over one-third of individuals with autism will develop seizures in early childhood or adolescence.

There is a wide degree of variability in the specific symptoms of autism. Because of this variability, autism is considered a spectrum disorder. There is no standard type or form of autism. Each individual is affected differently. This variability is reflected in some of the terms or names for autism. Asperger syndrome is a term used to describe individuals with autism with language skills. Pervasive developmental delay (PDD) is the term that is often used interchangeably with autism. The different terms for autism are partly due to the different individuals that first described this disorder.

Autism was first described by Leo Kanner in 1943. He observed and described a group of children with a pattern of symptoms. These children had some unique abilities and did not seem to be emotionally disturbed or mentally retarded. He invented the category early infantile autism (sometimes called Kanner's syndrome) to describe these children. In a strange coincidence, Hans Asperger made the same discoveries in the same year. He also described children with a unique behavioral profile and used the term autism to describe them. His original study was in German and was not translated into English until the late 1980s. Because the children that he identified all had speech, the term Asperger syndrome is often used to label autistic children who have speech.

While the effects of this disorder may vary in intensity, all individuals with autism have deficits in three key areas: social interaction, communication, and reasoning. In addition to these neurologic problems, individuals with autism often exhibit bizarre repetitive movements such as hand-flapping or head-banging. Other characteristics include a need for sameness or routine. While most individuals with autism have deficits, there are affected individuals that display unusual talents in areas such as math, music, and art. Some children have extraordinary talent in drawing and others learn to read before they learn to speak. These talents usually coexist with the other deficits of autism and are rare. These are usually referred to as savant skills.

Social interaction is the ability to interact, both verbally and nonverbally, with other humans. Individuals with autism have problems recognizing social cues such as facial expressions and tone of voice. Individuals with autism are often described as "being in their own world." This sense of isolation may arise from their inability to communicate effectively. They also lack the motivation for reciprocal communication.

Individuals with autism also have communication and language problems. They may or may not develop speech. Those individuals with autism that do speak use language in unusual ways. They may echo the comments of others (echolalia) or use phrases inappropriately. People with autism often use pronouns such as I, me, and you incorrectly. In addition to problems developing speech, individuals with autism have problems understanding the purpose of speech.

Individuals with autism can also have hyperacute senses. They may be very sensitive to bright lights, loud noises, or rough textures. The self-stimulating behaviors (head banging, hand flapping, rocking) sometimes seen in individuals with autism may be attempts to calm themselves due to over-stimulation. Other characteristic behaviors can include throwing temper tantrums for no apparent reason and developing fixations or obsessive interests.

The cause of autism is unknown. Originally, it was hypothesized that autism was a psychological problem caused by defective parenting. This hypothesis has been discredited as scientific information about neurological differences and biologic causes for autism have emerged.

Genetic profile

Although the search has been extensive, as of 2005, no single specific gene for autism has been discovered. Several candidate genes and chromosomal regions have been identified, but much research is needed before the exact roles that these genes play in the development of autism are understood.

Although the exact cause of autism is unknown, it is thought that autism occurs due to a combination of genetic and environmental causes. This combination of causative factors is often referred to as multifactorial inheritance . There are probably a number of different genes as well as unknown environmental factors involved in the development of autism. Multifactorial conditions tend to run in families, but the pattern of inheritance is not as predictable as with single-gene disorders. The chance of recurrence is also less than the risk for single-gene disorders and is usually derived from empiric or long-term studies of a large number of families.

Twins studies are used to determine the degree of heritability of a disorder. Identical twins have the exact same genes, while fraternal (non-identical) twins have only half of their genes in common. By examining the rates of concordance (the number of twin pairs that both have autism), it is possible to determine if there is a genetic component to autism. Studies that looked at the incidence of twins with autism determined that identical twins are more likely to be concordant (both affected) with autism than fraternal twins. This means that individuals with the same genes both have autism more often than twins with only half of the same genes. This finding suggests that genes play a role in the development of autism.

Identical twin pairs with autism reveal that there is a genetic component to autism. However, if autism was purely genetic, then all identical twins would be affected with autism (concordant). The fact that there are some identical twin pairs that are discordant for autism (one twin has autism and the other does not) means that other factors (possibly environmental) besides genes must also play a role in causing autism.

Speculations as to what other factors might influence or cause an individual to become autistic include viral, immunologic (including vaccinations), and environmental factors. While there are many theories about possible causes for autism, as of 2005, no specific non-genetic causes have been found and there is no scientific evidence for any specific environmental factor being a causative agent. Research in this area is ongoing.

Other scientific studies that point to the role of genes in the cause of autism look at the recurrence risk for autism. A recurrence risk is the chance that the same condition will occur for a second time in the same family. If a disease has no genetic component, then the recurrence risk should equal the incidence of the disorder. If autism had no genetic component, then it would not be expected to occur twice in the same family. However, studies have shown that autism does have an increased recurrence risk. In families with an affected son, the recurrence risk to have another child with autism is 7%. In families with an autistic daughter, the recurrence risk is 14%. In families with two children with autism, the chance that a subsequent child will also be affected is around 35%. Increased recurrence risks in families with one child with autism indicates that there is some genetic component to autism.

Genetic syndromes with autistic behaviors

While no specific gene has been found to cause isolated autism, there are some genetic syndromes in which the affected individual can have autistic behaviors. These genetic syndromes include untreated phenylketonuria (PKU), fragile X syndrome , tuberous sclerosis, Rett syndrome , and others.

Phenylketonuria is an inborn error of metabolism. Individuals with PKU are missing an enzyme necessary to break down phenylalanine, an amino acid found in protein-rich food. As these individuals eat protein, phenylalanine builds up in the bloodstream and nervous system, eventually leading to mental retardation and autistic behaviors. Most infants in the United States are tested at birth, and those affected with PKU are treated with a protein-free diet. This disorder is more common among individuals of northern European descent. The vast majority of infants in the Unites States are identified as having PKU through a newborn screening test done shortly after birth.

Fragile X syndrome is a mental retardation syndrome that predominantly (but not exclusively) affects males. Males with fragile X syndrome have long narrow faces, large cupped ears, enlarged testicles as adults, and varying degrees of mental retardation. Some individuals with fragile X syndrome also display autistic behaviors. The gene for fragile X syndrome, FMR1, is located on the X chromosome . DNA testing is available for this condition and will identify over 99% of individuals affected by fragile X syndrome.

Tuberous sclerosis is a variable disease characterized by hypopigmented skin patches, tumors, seizures, and mental retardation in some affected individuals. Up to 25% of individuals with tuberous sclerosis have autism. The genes for tuberous sclerosis have been identified as TSC1 and TSC2. DNA testing is available for this condition and will identify between 60–80% of individuals with tuberous sclerosis.

Rett syndrome is a progressive neurological disorder that almost exclusively affects females. Girls with Rett syndrome develop normally until the age of 18 months and then undergo a period of regression with loss of speech and motor milestones. Girls with Rett syndrome exhibit a nearly ceaseless hand-washing or hand-wringing motion. They also have mental retardation and can have autistic behaviors. The gene for Rett syndrome has been identified as MECP2. DNA testing is available for this syndrome and will identify approximately 80% of individuals with this syndrome.

While individuals with these genetic syndromes can have autistic behaviors, it is important to remember that 70–90% of individuals with autism do not have an underlying genetic syndrome as the cause of their disorder. Many studies are underway to try and determine the etiology or cause of autism.

Demographics

The exact incidence of autism is not known. Because the diagnostic criteria for autism has changed and broadened over the years, studies done to determine the incidence have yielded different estimates. Using the newer, more inclusive criteria, it is estimated that one in 500 individuals are affected with autism and that over half a million individuals in the United States fit the diagnostic criteria for autism, PDD, or Asperger syndrome.

Boys are affected with autism three times more often than girls. While boys may be affected more often, girls with autism tend to be more severely affected and have a lower IQ. The reasons for these differences are not known. Autism occurs in all racial, social, and economic backgrounds.

Signs and symptoms

One of the most frustrating aspects of autism is the lack of physical findings in individuals with autism. Most individuals with autism have normal appearances, and few, if any, medical problems. Because the specific cause of autism is unknown, there is no prenatal test available for autism.

Autism is a spectrum disorder. A spectrum refers to the fact that different individuals with a diagnosis of autism can have very different abilities and deficits. The spectrum of autism stretches from a socially isolated adult with normal IQ to a severally affected child with mental retardation and behavioral problems. The following is a partial list of behaviors seen in individuals with autism divided into main areas of concern. It is unlikely that any one individual would exhibit all of the following behaviors. Most affected people would be expected to exhibit some but not all of the behaviors.

In the area of communication skills, behaviors autistic individuals may display include:

  • language delay or absence
  • impaired speech
  • meaningless repetition of words or phrases
  • using gestures rather than words to communicate
  • concrete or literal understanding of words or phrases
  • inability to initiate or hold conversations

In the area of social interaction, behaviors autistic individuals may display include:

  • unresponsiveness to people
  • lack of attachment to parents or caregivers
  • little or no interest in human contact
  • failure to establish eye contact
  • little interest in making friends
  • unresponsiveness to social cues such as smiles or frowns

In the area of play, behaviors autistic individuals may display include:

  • little imaginative play
  • play characterized by repetition (e.g., endless spinning of car wheels)
  • no desire for group play
  • no pretend games

Autistic individuals may display behaviors that include:

  • repetitive motions such as hand flapping and head banging
  • rigid or flaccid muscle tone when held
  • temper tantrums or screaming fits
  • resistance to change
  • hyperactivity
  • fixates or develops obsessive interest in an activity, idea, or person
  • overreaction to sensory stimulus such as noise, lights, and texture
  • inappropriate laughing or giggling

Diagnosis

There is no medical test, such as a blood test or brain scan, to diagnose autism. The diagnosis of autism is very difficult to make in young children due to the lack of physical findings and the variable behavior of children. Because the primary signs and symptoms of autism are behavioral, the diagnosis usually requires evaluation by a specialized team of health professionals and occurs over a period of time. This team of specialists may include a developmental pediatrician, speech therapist, psychologist, geneticist, and other health professionals. Medical tests may be done to rule out other possible causes and may include a hearing evaluation, chromosome analysis, DNA testing for specific genetic disorders , and brain imaging scans, including magnetic resonance imaging (MRI), electroencephalogram (EEG), or computed tomography (CT), to rule out structural brain anomalies.

Once other medical causes have been excluded, the diagnosis for autism can be made using criteria from the fourth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM IV). This manual, developed by the American Psychiatric Association, lists abnormal behaviors in three key areas: impairment in social interaction, impairment in communication (language), and restrictive and repetitive patterns of behavior. These behaviors are usually seen in individuals with autism. If an individual displays enough distinct behaviors from the list, they meet the diagnostic criteria for autism. Most individuals will not exhibit all of the possible behaviors and, while individuals might exhibit the same behaviors, there is still a large degree of variability within this syndrome.

The DSM-IV criteria for a diagnosis of autistic disorder require a display total of at least six behaviors from items 1, 2, and 3, with at least two from 1, and one each from 2 and 3.

Under item 1 in the DSM-IV, the criteria are qualitative impairment in social interaction, as manifested by at least two of the following:

  • marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction
  • failure to develop peer relationships appropriate to developmental level
  • markedly impaired expression of pleasure in other people's happiness

Under the DSM-IV's item 2, the criteria are qualitative impairments in communication, as manifested by at least one of the following:

  • delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gestures or mime)
  • in individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others
  • stereotyped and repetitive use of language or idiosyncratic language
  • lack of varied spontaneous make-believe play or social imitative play appropriate to developmental level

Under item 3, the DSM-IV criteria are restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by as least one of the following:

  • encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus
  • apparently compulsive adherence to specific nonfunctional routines or rituals
  • stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements)
  • persistent preoccupation with parts of objects

Other criteria that help diagnosis autism include delays or abnormal functioning in at least one of the following areas, with onset prior to age three years:

  • social interaction,
  • language as used in social communication
  • symbolic or imaginative play

Autism is the usual diagnosis when there is no findings of Rett disorder or childhood disintegrative disorder (CDD).

Using all these criteria, the diagnosis of autism is usually made in children by approximately the age of two and a half to three; they are originally seen for speech delay. Often these children are initially thought to have hearing impairments due to their lack of response to verbal cues and their lack of speech.

While speech delay or absence of speech might initially bring a child to the attention of medical or educational professionals, it soon becomes apparent that there are other symptoms in addition to the lack of speech. Children with autism are often noticed for their lack of spontaneous play and their lack of initiative in communication. These deficits become more obvious when these children are enrolled in school for the first time. Their inability to interact with their peers becomes highlighted. Behaviors such as hand flapping, temper tantrums, and head banging also contribute to the diagnosis.

Because the criteria to diagnose autism are based on observation, several appointments with health care providers may be necessary before a definitive diagnosis is reached. A specialist closely observes and evaluates the child's language and social behavior. In addition to observation, structured interviews of the parents are used to elicit information about early behavior and development.

Treatment and management

There is no cure for autism. However, autism is not a static disorder. Behaviors can and do modify over time, and educational treatments can be used to focus on appropriate behaviors. The treatments available for individuals with autism depend upon their needs, but are generally long and intensive. While treatments vary, and there is considerable controversy about some treatments, there is uniform agreement that early and intensive intervention allows for the best prognosis. A treatment plan is usually based upon an evaluation of the child's unique abilities and disabilities.

Standardized testing instruments are used to determine the child's level of cognitive development and interviews with parents and caregivers, as well as observation by health professionals, are used to gauge a child's social, emotional, and communications skills. Once a clear picture of the child's needs is developed, treatment is initiated. Studies have shown that individuals with autism respond well to a highly structured, specialized education program tailored to their individual needs. All treatments are best administered by trained professionals. Speech and language therapy may be used to develop and improve language skills. Occupational therapy may be used to develop fine motor skills and to teach basic self-help and functional skills such as grooming. Behavior modification, with positive reinforcement, plays a large role in the early treatment of some of the abnormal behaviors of individuals with autism. Other therapies may include applied behavioral analysis, auditory integration training, dietary interventions, medications, music therapy, physical therapy, sensory integration, and vision therapy.

Increasingly, medications are being used to treat some of the symptoms of autism. The drugs that are recommended most often for children with autism include psychostimulants (methylphenidate, pemoline), clonidine, or one of the tricyclic antidepressants (TCAs) for hyperactivity or inattention; beta blockers, neuroleptics, or lithium for anger or aggression; selective serotonin reuptake inhibitors (SSRIs) or TCAs for rituals and preoccupations; and SSRIs or TCAs for anxiety symptoms. One alternative herbal remedy that has been tried with AS patients is St. John's Wort.

In order to be effective, the treatments and therapies must be consistent and reinforced by the family. It is helpful if family members and caregivers receive training in working with and teaching individuals with autism. A team approach involving health care professionals, therapists, educators, and families is necessary for successful treatment of individuals with autism.

Prognosis

The prognosis for individuals with autism is variable but much brighter than it was a generation ago. Overall, the ultimate prognosis of an individual with autism is dependant on their IQ, their communicative abilities, and the extent of their behavioral problems.

Individuals with autism without mental retardation can develop independent living skills. Often these individuals do well and can become self-sufficient if they have good communication skills. Other individuals with autism develop some level of self-sufficiency but may never be able to live independently due to their severe communication or cognitive difficulties. Up to 60% of individuals with autism will require lifelong assistance.

Resources

BOOKS

Diagnostic and Statistical Manual of Mental Disorders, 4th Edition. Washington, DC: American Psychiatric Association, 1994.

Hart, C. A Parent's Guide to Autism. New York: Simon and Schuster, 1993.

Siegel, Byrna. The World of the Autistic Child: Understanding and Treating Spectrum Disorders. Oxford: Oxford University Press, 1998.

ORGANIZATIONS

Association for Science in Autism Treatment. 175 Great Neck Road, Suite 406, Great Neck, NY 11021. (516) 466-4400. Fax: (516) 466-4484. [email protected].

Autism Society of America. 7910 Woodmont Ave. Suite 300, Bethesda, MD 20814-3015. (301) 657-0881 or (800) 3-AUTISM. (April 8, 2005.) <http://www.autismsociety.org>.

Cure Autism Now (CAN) Foundation. 5455 Wilshire Blvd. Suite 715, Los Angeles, CA 90036-4234. (500) 888-AUTISM. Fax: (323) 549-0547. [email protected]. (April 8, 2005.) <http://www.cureautismnow.org>.

National Alliance for Autism Research (NAAR). 414 Wall Street Research Park, Princeton, NJ 08540. (609) 430-9160 or (888) 777-6227 CA: (310) 230-3568. Fax: (609) 430-9163. (April 8, 2005.) <http://www.naar.org>.

WEB SITES

The Autism/PDD Network. (April 8, 2005.) <http://www.autism-pdd.net/>.

Autism Resources. (April 8, 2005.) <http://www.autismresources.com>.

National Research Council. (April 8, 2005.) <http://www.nap.edu/books/0309072697/html>.

O.A.S.I.S. Online Asperger Syndrome Information Society. (April 8, 2005.) <http://www.udel.edu/bkirby/asperger/>.

Kathleen A. Fergus, MS, CGC

Autism

views updated May 09 2018

Autism

Definition

Autism is a severe disorder of brain function marked by problems with social contact, intelligence and language, together with ritualistic or compulsive behavior and bizarre responses to the environment.

Description

Autism is a lifelong disorder that interferes with the ability to understand what is seen, heard, and touched. This can cause profound problems in personal behavior and in the ability to relate to others. A person with autism must learn how to communicate normally and how to relate to people, objects and events. However, not all patients suffer the same degree of impairment. There is a full spectrum of symptoms, which can range from mild to severe.

Autism occurs in as many as one or two per 1,000 children. It is found four times more often in boys (usually the first-born) and occurs around the world in all races and social backgrounds. Autism usually is evident in the first three years of life, although in some children it's hard to tell when the problem develops. Sometimes the condition isn't diagnosed until the child enters school.

While a person with autism can have symptoms ranging from mild to severe, about 10% have an extraordinary ability in one area, such as in mathematics, memory, music, or art. Such children are known as "autistic savants" (formerly known as "idiot savants.").

Causes and symptoms

Autism is a brain disorder that affects the way the brain uses or transmits information. Studies have found abnormalities in several parts of the brain that almost certainly occurred during fetal development. The problem may be centered in the parts of the brain responsible for processing language and information from the senses.

There appears to be a strong genetic basis for autism. Identical twins are more likely to both be affected than twins who are fraternal (not genetically identical). In a family with one autistic child, the chance of having another child with autism is about 1 in 20, much higher than in the normal population. Sometimes, relatives of an autistic child have mild behaviors that look very much like autism, such as repetitive behaviors and social or communication problems. Research also has found that some emotional disorders (such as manic depression) occur more often in families of a child with autism.

At least one group of researchers has found a link between an abnormal gene and autism. The gene may be just one of at least three to five genes that interact in some way to cause the condition. Scientists suspect that a faulty gene or genes might make a person vulnerable to develop autism in the presence of other factors, such as a chemical imbalance, viruses or chemicals, or a lack of oxygen at birth.

In a few cases, autistic behavior is caused by a disease such as:

  • rubella in the pregnant mother
  • tuberous sclerosis
  • fragile X syndrome
  • encephalitis
  • untreated phenylketonuria

The severity of the condition varies between individuals, ranging from the most severe (extremely unusual, repetitive, self-injurious, and aggressive behavior) to very mild, resembling a personality disorder with some learning disability.

Profound problems with social interaction are the most common symptoms of autism. Infants with the disorder won't cuddle; they avoid eye contact and don't seem to want or need physical contact or affection. They may become rigid or flaccid when they are held, cry when picked up, and show little interest in human contact. Such a child doesn't smile or lift his arms in anticipation of being picked up. He forms no attachment to parents nor shows any normal anxiety toward strangers. He doesn't learn typical games of childhood, such as peek-a-boo.

Language problems

The child with autism may not speak at all; if he does, it is often in single words. He may endlessly repeat words or phrases that are addressed to him and may reverse pronouns ("You go sleep" instead of "I want to go to sleep").

Restricted interests and activity

Usually a child with autism has many problems playing normally. He probably won't act out adultroles during play time, and instead of enjoying fantasy play, he may simply repeatedly mimic the actions of someone else. Bizarre behavior patterns are very common among autistic children and may include complex rituals, screaming fits, rhythmic rocking, arm flapping, finger twiddling, and crying without tears. Autistic children may play with their own saliva, feces or urine.They may be self-destructive, biting their own hands, gouging at their eyes, pulling their hair, or banging their head.

Sensory problems

The sensory world poses a real problem to many autistic children, who seem overwhelmed by their own senses. A child with autism may ignore objects or become obsessed with them, continually watching the object or the movement of his fingers over it. Many of these children may react to sounds by banging their head or flapping fingers. Some high-functioning autistic adults who have written books about their childhood experiences report that sounds were often excruciatingly painful to them, forcing them to withdraw from their environment or try to cope by withdrawing into their own world of sensation and movement.

Intellectual problems

Most autistic children appear to be moderately mentally retarded. They may giggle or cry for no reason, have no fear of real danger, but exhibit terror of harmless objects.

Diagnosis

There is no medical test for autism. Because the symptoms of autism are so varied, the condition may go undiagnosed for some time (especially in those with mild cases or if other handicaps are also present). It may be confused with other diseases, such as fragile X syndrome, tuberous sclerosis, and untreated phenylketonuria.

Autism is diagnosed by observing the child's behavior, communication skills, and social interactions. Medical tests should rule out other possible causes of autistic symptoms. Criteria that mental health experts use to diagnose autism include:

  • problems with developing friendships
  • problems with make-believe or social play
  • endlessly repeated words or strings of words
  • difficulty in carrying on a conversation
  • obsessions with rituals or restricted patterns
  • preoccupation with parts of objects

Some children have a few of the symptoms of autism, but not enough to be diagnosed with the "classical" form of the condition. Children who have autistic behavior but no problems with language may be diagnosed with "Asperger syndrome." Children who seem normal at first but who begin to show autistic behavior as they get older might be diagnosed with "childhood disintegrative disorder" (CDD). These problems are sometimes called "autistic spectrum disorders." It is also important to rule out other problems that seem similar to autism.

Treatment

There is no cure for autism. Treatments are aimed at reducing specific symptoms. Because the symptoms vary so widely from one person to the next, there is not a single approach that works for every person. A spectrum of interventions include training in music, listening, vision, speech and language, and senses. Special diets and medications may also be prescribed.

Studies show that people with autism can improve significantly with proper treatment. A child with autism can learn best with special teachers in a structured program that emphasizes individual instruction. The two most-often studied types of treatment are:

Educational or behavioral treatment

Typically, behavioral techniques are used to help the child respond and decrease symptoms. This might include positive reinforcement (food and rewards) to boost language and social skills. This training includes structured, skill-oriented instruction designed to boost social and language abilities. Training needs to begin as early as possible, since early intervention appears to influence brain development.

Most experts believe that modern treatment is most effective when carried out at home, although treatment may also take place in a psychiatric hospital, specialized school, or day care program.

Medication

No single medication has yet proved highly effective for the major features of autism. However, a variety of drugs can control self-injurious, aggressive, and other of the more difficult behaviors. Drugs also can control epilepsy, which afflicts up to 20% of people with autism.

KEY TERMS

Antidepressants A type of medication that is used to treat depression; it is also sometimes used to treat autism.

Asperger syndrome Children who have autistic behavior but no problems with language.

Encephalitis A rare inflammation of the brain caused by a viral infection. It has been linked to the develoment of autism.

Fragile X syndrome A genetic condition related to the X chromosome that affects mental, physical and sensory development.

Major tranquilizers The family of drugs that includes the psychotropic or neuroleptic drugs, sometimes used to help autistic people. They carry significant risk of side effects, including Parkinsonism and movement disorders, and should be prescribed with caution.

Opiate blockers A type of drug that blocks the effects of natural opiates in the system. This makes some people, including some people with autism, appear more responsive to their environment.

Phenylketonuria (PKU) An enzyme deficiency present at birth that disrupts metabolism and causes brain damage. This rare inherited defect may be linked to the development of autism.

Rubella Also known as German measles. When a woman contracts rubella during pregnancy, her developing infant may be damaged. One of the problems that may result is autism.

Stimulants A class of drugs, including Ritalin, used to treat people with autism. They may make children calmer and better able to concentrate, but they also may limit growth or have other side effects.

Tuberous sclerosis A genetic disease that causes skin problems, seizures, and mental retardation. It may be confused with autism.

Five types of drugs are sometimes prescribed to help the behavior problems of people with autism:

  • stimulants, such as methylphenidate (Ritalin)
  • antidepressants, such as fluroxamine (Luvox)
  • opiate blockers, such as naltrexone (ReVia)
  • antipsychotics
  • tranquilizers.

Today, most experts recommend a complex treatment regimen that begins early and continues through the teenage years. Behavioral therapies are used in conjunction with medications.

Alternative treatment

Many parents report success with megavitamin therapy. Some studies have shown that vitamin B6 improves eye contact and speech and lessens tantrum behavior. Vitamin B6 causes fewer side effects than other medications and is considered safe when used in appropriate doses. However, not many health practitioners advocate its use in the treatment of autism, citing that the studies showing its benefit were flawed.

DMG (dimethylglycine)

This compound, available in many health food stores, is legally classified as a food, not a vitamin or drug. Some researchers claim that it improves speech in children with autism. Those who respond to this treatment will usually do so within a week. Again, many doctors do not feel that the studies are adequate to promote this treatment.

Exercise

One researcher found that vigorous exercise (20 minutes or longer, three or four days a week) seems to decrease hyperactivity, aggression, self-injury and other autistic symptoms.

Prognosis

While there is no cure, with appropriate treatment the negative behaviors of autism may improve. Earlier generations placed autistic children in institutions; today, even severely disabled children can be helped in a less restrictive environment to develop to their highest potential. Many can eventually become more responsive to others as they learn to understand the world around them, and some can lead nearly normal lives.

People with autism have a normal life expectancy. Some people with autism can handle a job; they do best with structured jobs that involve a degree of repetition.

Prevention

Until the cause of autism is discovered, prevention is not possible.

Resources

ORGANIZATIONS

Autism Network International. PO Box 448, Syracuse, NY 13210.

Autism Research Institute. 4182 Adams Ave., San Diego, CA 92116. (619) 281-7165.

Autism Society of America. 7910 Woodmont Avenue, Suite 300, Bethesda, Maryland 20814-3067. (800) 328-8476. http://www.autism-society.org.

National Alliance for Autism Research. [email protected].

National Autism Hotline. c/o Autism Services Center, PO Box 507, 605 Ninth St., Huntington, WV 25710. (304) 525-8014.

National Fragile X Foundation. PO Box 190488, San Francisco, CA 94119. (800) 688-8765. http://www.nfxf.org.

National Institute of Neurological Disorders and Stroke. PO Box 5801, Bethesda, MD 20824. (800) 352-9424. http://www.ninds.nih.gov/index.htm.

OTHER

Autism Society of America. 7910 Woodmont Avenue. http://www.autism-society.org.

National Alliance for Autism Research (NAAR). http://www.naar.org.

National Information Center for Children and Youth with Disabilities. http://www.nichcy.org/transitn.htm.

Autism

views updated Jun 11 2018

Autism

Definition

The term "autism" refers to a cluster of conditions appearing early in childhood. All involve severe impairments in social interaction, communication, imaginative abilities, and rigid, repetitive behaviors. To be considered an autistic disorder, some of these impairments must be manifest before the age of three.

The reference book used by mental health professionals to diagnose mental disorders is the Diagnostic and Statistical Manual of Mental Disorders , also known as the DSM. The 2000 edition of this reference book (the Fourth Edition Text Revision known as DSM-IV-TR ) places autism in a category called pervasive developmental disorders . All of these disorders are characterized by ongoing problems with mutual social interaction and communication, or the presence of strange, repetitive behaviors, interests, and activities. People diagnosed with these disorders are affected in many ways for their entire lives.

Description

Each child diagnosed with an autistic disorder differs from every other, and so general descriptions of autistic behavior and characteristics do not apply equally to every child. Still, the common impairments in social interaction, communication and imagination, and rigid, repetitive behaviors make it possible to recognize children with these disorders, as they differ markedly from healthy children in many ways.

Many parents of autistic children sense that something is not quite right even when their children are infants. The infants may have feeding problems, dislike being changed or bathed, or fuss over any change in routine. They may hold their bodies rigid, making it difficult for parents to cuddle them. Or, they may fail to anticipate being lifted, lying passively while the parent reaches for them, rather than holding their arms up in return. Most parents of autistic children become aware of the strangeness of these and other behaviors only gradually.

Impairments in social interaction are usually among the earliest symptoms to develop. The most common social impairment is a kind of indifference to other people, or aloofness, even towards parents and close care-givers. The baby may fail to respond to his or her name being called and may show very little facial expression unless extremely angry, upset, or happy. Babies with autism may resist being touched, and appear to be lost in their own world, far from human interaction. Between seven and 10 months of age, most infants often resist being separated from a parent or well-known caregiver, but these infants may show no disturbance when picked up by a stranger.

Other children with autism may be very passive, although less resistant to efforts by others to interact. However, they do not initiate social interaction themselves. Still others may attempt to engage with adults and peers, but in ways that strike others as inappropriate, or odd.

In adolescence and adulthood, some of the higher-functioning individuals with autistic disorders may appear overly formal and polite. They may react with little spontaneity, as if social interaction doesn't come naturally or easily to them, and so they are trying to follow a pre-determined set of rules.

Some individuals with autism have normal intelligence, and many have special talents in areas such as music or memory. However, individuals with autism may have other mental or emotional problems that co-exist with their autism. Some of these other disorders may include impulse control disorders, obsessive-compulsive disorder , mood and anxiety disorders, and mental retardation .

Causes and symptoms

Causes

PSYCHOLOGICAL AND FAMILY FACTORS. Although Henry Maudsley, in the late 1800s, was the first psychiatrist to focus on very young children with mental disorders, it was the psychiatrist Leo Kanner who coined the phrase "early infantile autism" in 1943. Kanner believed that the parents of children with autistic behaviors were emotionally cold and intellectually distant. He coined the term "refrigerator parents" to describe them. His belief that parental personality and behavior played a powerful role in the development of autistic behaviors left a devastating legacy of guilt and self-blame among parents of autistic children that continues to this day. Recent studies are unequivocal, however, in demonstrating that parents of autistic children are no different from parents of healthy children in their personalities or parenting behaviors. In fact, many families with an autistic child also have one or more perfectly healthy children.

Because autistic children can be extremely sensitive to change, any change within the family situation can be potentially traumatic to the autistic child. A move, divorce, birth of a sibling or other stressors that occur in the lives of most families may evoke a more extreme reaction from an autistic child.

NEUROLOGICAL AND BIOLOGICAL FACTORS. While there is no single neurological abnormality found in children with autistic disorders, some research using non-invasive brain imaging techniques such as magnetic resonance imaging (MRI) suggests that certain areas of the brain may be involved. Several of the brain areas being researched are known to control emotion and the expression of emotion. These areas include the temporal lobe (large lobe of each side of the brain that contains a sensory area associated with hearing), the limbic system, the cerebellum, the frontal lobe, the amygdala, and the brain stem, which regulates homeostasis (body temperature and heart rate). Recent research has focused particularly on the temporal lobe because of the finding that previously healthy people who sustain temporal lobe damage may develop autistic-like symptoms. In animal research, when the temporal lobe is damaged, social behavior declines, and restless, repetitive motor behaviors are common. When measured by MRI, total brain volume appears to be greater for those with autistic disorders.

Other neurological factors include lesions to the brain, congenital rubella, undiagnosed and untreated phenylketonuria (PKU), tuberous sclerosis, and Rett's disorder (a related condition in which the baby develops in an apparently normal manner through age five months, and then begins to lose communicative and social interaction skills). There is also evidence of a higher proportion of perinatal complications (complications arising around the time of giving birth) among children with autistic symptoms. These complications include maternal bleeding after the first trimester and meconium in the amniotic fluid. (Meconium is a substance that accumulates in the bowel of the developing fetus and is discharged shortly after birth.) Some evidence suggests that the use of medications during pregnancy may be related to the development of autistic symptoms. As newborns, children with autistic behaviors show a higher rate of respiratory illness and anemia than healthy children.

ALLERGIES, INFECTIONS, AND IMMUNIZATIONS. Some professionals believe that autistic disorders may be caused by allergies to particular fungi, viral infections, and various foods. No controlled studies have supported these beliefs, but some parents and professionals report improvement when allergens and/or certain foods are eliminated from the diet.

Viral infections of the mother, such as rubella, or of the young child, such as encephalitis, mumps, and measles, occasionally appear to cause autistic disorders. The common childhood immunization series known as MMR (measles, mumps, rubella) has recently come under scrutiny as a possible cause of some autistic conditions.

Symptoms

DSM-IV-TR specifies three diagnostic categories, each with four components, that are used to make a diagnosis of autistic disorder. These diagnostic categories include impairments in social interaction, communication, and particular patterns of behavior. More information about the individual diagnostic categories and components follows.

SOCIAL INTERACTION. Qualitative impairment in social interaction, as demonstrated by at least two of the following:

  • impairment in the use of nonverbal behaviors such as eye contact, facial expression, body posture, and gestures used for social interaction
  • failure to develop age-appropriate peer relationships
  • lack of attempts to share pleasure, activities, interests, or achievements with other people (by failing to bring items of interest to a parent, or pointing out animals or objects, for example)
  • inability to respond to social situations or other people's emotions with empathy or a concerned attitude

COMMUNICATION. Qualitative impairments in communicating in at least one of the following four areas:

  • lack of, or delay in development of spoken language, without attempts to communicate through alternative means such as gestures or mime
  • in individuals who do speak, severe impairment in the ability to initiate or sustain a conversation with others
  • repetitive and stereotyped use of language, or use of words in unusual, idiosyncratic ways
  • failure to show imaginative play, such as make-believe or social imitative play appropriate to developmental level

BEHAVIOR. Restricted, repetitive, and stereotyped patterns of behavior, interests, and activities, as demonstrated by at least one of the following:

  • unusual and overly absorbing preoccupation with one or more interests or activities
  • a need for rigid adherence to specific routines or rituals in daily life
  • stereotyped and repetitive motor behaviors using parts of the body such as fingers or hands, or the whole body
  • persistent preoccupation with parts of objects

Demographics

Autistic disorders strike families of all racial, ethnic, and social backgrounds. These disorders are estimated to affect approximately four children in 10,000. Other estimates place the number affected at between 1 in 500 and 1 in 2,500 Americans. Autistic disorder occurs four times more frequently in boys than girls. Several surveys have shown that between two and four percent of siblings of autistic children also have autistic disorder. This rate is 50 times greater than in the general population. Among pairs of identical twins in which one child has autism, in 36% of the pairs, the other twin has autism as well. Among fraternal twins, there is no similar correlation. Some studies indicate that even among family members who are not diagnosed as autistic, there tends to be a higher-than-average rate of language and other cognitive problems. As many as 25% of autistic children develop epileptic seizures later in life, usually during adolescence. This symptom appears mostly in those who are also mentally retarded.

Recently, professionals have reported observing increasing numbers of children with autistic disorders. While no studies confirm this observation, there are three possible reasons why it appears so. First, the definition of "autism" and "autistic disorders" has widened considerably since the first case reports by Leo Kanner in 1943. The DSM-IV-TR definition currently in use includes a far greater range of behaviors than earlier definitions of autism. Second, there has been an increasing awareness of the existence of autism and autistic disorders among the general public and among health professionals, making a child with symptoms of autism much more likely to be diagnosed than in years past. Finally, it is possible that there is an actual increase in the number of children born with one of these disorders.

Diagnosis

Because young infants are so limited in their range of behavior, autistic disorders are generally discovered gradually, and rarely diagnosed before the age of two or three. Parents may not realize that their baby's behavior is different from that of other infants until he or she reaches an age where a wide range of behaviors are typically displayed. Most doctors may attempt to reassure concerned parents of infants under two years that their children are "normal," or will "grow out of" a disturbing behavior, because many children do. At the time that speech and language usually develop, parents are more likely to observe that their autistic child is not at the same level as other children his age. Once the child is old enough to play with other children, it becomes more apparent that the autistic child either isn't interested in doing so, or does so in strange, unusual ways that differ from most children of the same age. Motor development may also appear unusual, with repetitive motions such as spinning, self-injurious behaviors such as headbanging, and rocking back and forth, giving the parents strong clues that their child behaves differently from others.

The child who continues to display unusual behaviors at about the age of two years would most likely receive a referral from the pediatrician to a child psychiatrist or to an early intervention program with a multidisciplinary staff including psychiatrists, psychologists, and social workers . These professionals would be the ones to diagnose autistic disorder, and, ideally, offer an early intervention program simultaneously. In order to reach the diagnosis, the professional(s) would observe the child both with and without parents present, interview the parents about the pregnancy, birth, siblings, family history, and early behaviors, and an assessment like the Bayley Scales of Infant Development might be administered.

Differential diagnosis

Differential diagnosis is the process of distinguishing one disorder from other similar disorders. Because there are currently no medical tests (such as a blood test) to detect autism, the diagnosis is often established by ruling out other disorders.

MENTAL RETARDATION. It is estimated that approximately 40% to 60% of children with autistic disorders show some degree of mental retardation ranging from mild to profound. It is possible for a child to have both conditions. What distinguishes children with mental retardation who do not have autistic symptoms from those who do is evenness of development. Children with mental retardation tend to exhibit a more even level of functioning in all areas, whereas autistic children tend to exhibit extreme variability within areas and between areas. Children with autistic disorders show uneven development in areas such as motor, language, and social skills. A child with autism may have high-level cognitive functioning in one area, but low-level cognitive functioning in another area, for example. Or a child with autism may exhibit delayed cognitive development, but normal motor skills development. For this reason, autism is often referred to as a "spectrum disorder" because of the large spectrum or range of variability in symptoms and functioning. Also, many children with mental retardation relate well to people and enjoy social connection, which is rare for autistic children.

LANGUAGE DISORDER. Children with autistic disorders may appear similar in some ways to children with language disorders. Unlike autistic children, however, children with language disorders have normal responses to most people, situations, and objects. They make eye contact and show interest in peer and adult relationships.

CHILDHOOD SCHIZOPHRENIA. Schizophrenia is a disturbance of emotion and thought processes that rarely occurs in young children. When it does, it is characterized by hallucinations and delusions seeing and hearing things that are not there, for example. These are not symptoms that appear among autistic children.

DEGENERATIVE ORGANIC BRAIN DISORDER. This is an extremely rare condition that may at first appear similar to autistic disorders. In degenerative organic brain disorder, the child begins to develop normally. But over time, speech, language, motor skills and other age-appropriate behaviors disintegrate and do not return. The disintegration is progressive. In children with autistic disorders, some children may begin to develop words and language and then lose them at around eighteen months. However, with appropriate education, these skills can be relearned and surpassed by the autistic child.

Treatments

Autistic disorders cannot be cured, but children who have these disorders can make considerable progress in all areas of life. Depending upon the level of intellectual function, it is possible for some children with autism to become functioning, semi-independent adults capable of working and enjoy some social relationships. Parenting a child with autism can be extremely challenging, however, and many families find support groups to be helpful. Both medication and psychosocial therapies (therapies that address both psychological and social issues) can help ameliorate troubling symptoms. Education is key for helping these children learn socially acceptable behaviors, decreasing odd mannerisms and behaviors, and increasing appropriate verbal and non-verbal language skills.

Education

Most educational programs for children with autistic disorders involve small, specialized classes with teachers specially trained to work with autistic children. Often, these children are educated in special schools that have extended school years rather than lengthy summer vacations. Research has shown that autistic children need regular, daily structure and routine, and they maintain their skills best when there are not frequent disruptions of their daily school program.

One method that has been used extensively both within the classroom and at home is a behavior modification method known as "Applied Behavior Analysis," or ABA. Specially trained teachers break down large goals into small steps that are taught and repeated until the child masters each one. Slowly, step by step, more appropriate patterns of behavior and communication are formed or "shaped" in this way. Positive reinforcement is used in many forms such as praise, for those children who are motivated by it, time permitted to engage in a favorite activity, or a small favored food item. For ABA to be most effective, parents need to be trained to use these same skills to continue the work at home.

Medications

Although no one drug is helpful to children with autistic disorders, several medications are currently used, along with education, to reduce severe temper tantrums and destructive aggression, self-injurious behaviors, hyperactivity, and strange, repetitive behaviors. Medications may also help the autistic child become more receptive to learning and relating to others. Some of the medications commonly used today include risperidone (Risperdal), and haloperidol (Haldol). Although there are side effects associated with these medications, careful dosing and use of other medications to counteract side effects often enable the autistic child to function more effectively.

Non-conventional treatments

One non-conventional and experimental treatment for autism is the use of secretin, a hormone produced in the small intestine that stimulates the pancreas to release sodium bicarbonate and other digestive enzymes. Some researchers think that children with autistic disorders do not produce enough of this hormone, and that the lack of sufficient secretin may be the reason why children with autistic disorders suffer so frequently from digestive problems. There are some reports of treating autistic children with secretin that indicate improvement not only in digestion, but in eye contact, alertness, and the ability to learn.

Another non-conventional, experimental treatment involves Candida albicans, the technical term for a common yeast that is found in the human body. Some scientists believe that an overgrowth of this yeast may cause or worsen autism. Some reports indicate that children treated with anti-yeast medications improve in eye contact, social abilities, language skills, concentration, and sleep, and that they show a reduction in aggressive and hyperactive behavior.

An additional non-conventional treatment being researched for autism is a nutritional supplement, Vitamin B6. Some experts believe that Vitamin B6 holds promise for reducing autistic symptoms and helping autistic children progress in all areas. It may be combined with magnesium and the combination appears to have no known side effects. Improvements attributed to these supplements in some studies include enhanced language, eye-contact, and behaviors, as well as more normal brain activity and improved immune system functioning.

These treatments remain outside mainstream medicine, however, and research is ongoing as to their efficacy. Parents interested in these therapies may wish to discuss them with their child's health care team.

Prognosis

Autistic disorders follow a continuous course throughout life. Autistic individuals with higher levels of intelligence may become able to work and live independently or, more frequently, semi-independently. This is especially true for those with IQ scores of 70 or higher. One in six children with autism becomes a well-adjusted adult. Another one out of six achieves a fair degree of adjustment in adult life. Others may never be able to leave the structured environment of home or, later, special group home placement. During adolescence, sexual feelings emerge that cannot usually be handled appropriately by the autistic teen. Supervision throughout life is needed for the majority of individuals diagnosed with these disorders.

Prevention

At present, no specific means of preventing autistic disorders exist. Because of an elevated likelihood of giving birth to more than one autistic child exists, genetic counseling is recommended.

Resources

BOOKS

American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 4th edition, text revision. Washington, DC: American Psychiatric Association, 2000.

Hamilton, Lynn, Facing Autism. Colorado Springs, CO.: WaterBrook Press, 2000.

Kaplan, Harold, MD, and Benjamin Sadock, MD. Synopsis of Psychiatry. 8th edition, revised. Baltimore, MD: Lippincott Williams and Wilkins, 1998.

Powers, Michael, Psy.D., ed. Children with autism: a parent's guide. 2nd edition., Bethesda, MD.: Woodbine House, 2000.

Wing, Lorna, M.D. The Autistic Spectrum. Berkeley, CA.: Ulysses Press, 2001.

ORGANIZATIONS

American Psychiatric Association. 1400 K Street NW, Washington, D.C., 20005.

Autism Network International, PO Box 448, Syracuse, NY 13210-0448.<http://www.students.uiuc.edu/bordner/ani/>.

The Autism Society of America. 7910 Woodmont Avenue, Suite 300, Bethesda, MD 20814-3015. <http://www.autism-society.org>.

Families Working Together. 12400 Cypress Avenue, Space 20, Chino, CA 91710.<http://www.ucddfam.com>.

F.E.A.T (Families for Early Autism Treatment). PO Box 255722, Sacramento, CA 95865-1536.<http://www.feat.org>.

Barbara S. Sternberg, Ph.D.

Autism

views updated May 14 2018

Autism

Definition

Autism is a severely incapacitating developmental disorder of brain function characterized by three major types of symptoms: impaired social interaction, problems with verbal and nonverbal communication, and unusual or severely limited activities and interests.

Description

Autism is a complex developmental disability with symptoms that typically appear during the first three years of childhood and continue throughout life. It is the most severe disorder within a group of developmental disorders called autism spectrum disorders (ASDs) or pervasive developmental disorders (PDDs) that cover a wide range of behaviors and symptoms, all related to a lesser or greater extent to impaired social and communication skills .

In its most severe form, autism may include extreme self-injurious, repetitive, highly unusual, and aggressive behaviors.

Demographics

According to the Center for Disease Control and Prevention, PDDs were estimated to occur in two to six per 1,000 births in 2003 with autism being the most common PDD, affecting an estimated one in 250 births. As of 2004, as many as 1.5 million Americans are were believed to have some form of autism. The disorder is four times more prevalent in boys than girls and is not associated with any specific racial or ethnic background. Family income, lifestyle, and educational levels also do not affect the chance of the disorder's occurrence.

The Autism Society of America (ASA) warns that autism is on the rise. Based on statistics from the U.S. Department of Education and other governmental agencies, the ASA estimates that the disorder is growing at a rate of 10 to 17 percent per year, which could lead to 4 million Americans being affected by autism between 2005 and 2015.

Causes and symptoms

While understanding of autism grew tremendously since it was first described by Leo Kanner in 1943, no known single cause for autism as of 2004 was yet identified, although research has shown that it results from specific abnormalities in brain structure or function. For example, brain scans show that the shape and structure of the brain in autistic children are different from those of non-autistic children. Researchers investigated several theories and established a firm link between heredity, genetics, and medical problems, while also establishing that no known psychological factors in the development of the child have been shown to cause autism.

The genetic link is supported by observations showing that, in many families, there seems to be a pattern of autism or ASDs. While no one gene was identified as causing autism as of 2004, researchers are searching for irregular segments of genetic code that autistic children may have inherited.

Autism has also been shown to occur more frequently among individuals who have certain medical> conditions, including> fragile X syndrome, tuberous sclerosis , congenital rubella syndrome, and untreated phenylketonuria .

Toxins and pollution in the environment have also been associated with autism. The Center for the Study of Autism and other agencies documented a high prevalence of autism in certain communities, for example, in the small town of Leomenster, Massachusetts, and in Brick Township, New Jersey, and attempted to uncover the reason.

The symptoms of autism occur in a wide variety of combinations, from mild to severe and are caused by physical disorders of the brain. According to the ASA, they may include any combination of the following in varying degrees of severity:

  • insistence on sameness; resistance to change
  • difficulty in expressing needs; using gestures or pointing instead of words
  • repeating words or sentences instead of using normal, responsive language (echolalia)
  • laughing, crying, showing distress for reasons not apparent to others
  • aloof behavior, seeking solitude
  • tantrums
  • refusal to cuddle or be cuddled
  • little or no eye contact
  • unresponsiveness to normal teaching methods
  • sustained odd play
  • inappropriate attachments to objects
  • apparent over-sensitivity or under-sensitivity to pain
  • no fear of danger
  • uneven gross/fine motor skills
  • not responsive to verbal cues; acts as if deaf although hearing tests in normal range

When to call the doctor

The characteristic behaviors of autism may or may not be apparent in infancy (18 to 24 months) but usually become obvious during early childhood (two to six years).

The National Institute of Child Health and Human Development (NICHD) lists the five following behaviors as signals that medical evaluation is needed:

  • does not babble or coo by 12 months
  • does not gesture (point, wave, grasp) by 12 months
  • does not say single words by 16 months
  • does not say two-word phrases on his or her own by 24 months
  • loss of any language or social skills at any age

The presence of any of these five behaviors does not mean that a child has autism, but because the characteristics of the disorder vary so much, a child should be evaluated by a multidisciplinary team that may include a neurologist, psychologist, developmental pediatrician, speech/language therapist, learning consultant, or other professionals knowledgeable about autism.

Diagnosis

There are no medical tests for diagnosing autism. An accurate diagnosis must be based on observation of the individual's communication, behavior, and developmental level. A diagnosis of autistic disorder is usually made when an individual displays six or more of 12 symptoms listed across three major areas: social interaction, communication, and behavior. Several screening procedures have been developed for use in diagnosing autism, among which are the following:

  • Childhood Autism Rating Scale (CARS). CARS is based on observed behavior. Using a 15-point scale, professionals evaluate a child's relationship to people, body use, adaptation to change, listening response, and verbal communication.
  • Checklist for Autism in Toddlers (CHAT). CHAT is used to screen for autism at 18 months of age. The screening tool uses a short questionnaire with two sections, one prepared by the parents, the other by the child's family doctor or pediatrician.
  • Autism Screening Questionnaire (ASQ). The ASQ is a 40-item screening scale used with children four and older to help evaluate communication skills and social functioning.
  • Screening Test for Autism in Two-Year Olds. This test uses direct observations to study behavioral features in children under two. It is focused on three skills areas, play, motor imitation, and joint attention, that are associated with autism.

Treatment

There is as of 2004 no cure for autism, but appropriate treatment may promote relatively normal development and lower the incidence of undesirable behaviors. Doctors also may prescribe a variety of drugs to reduce the symptoms of autism, such as antidepressants and tranquilizers. Educational/behavioral therapies emphasize highly structured and often intensive skill-oriented training, and they are comparatively the most effective treatments available.

The importance of early treatment is well established among professionals. Researchers have proposed that there is a critical period during which the young, developing brain is highly modifiable. For some children with autism, the repeated, active interaction provided by intensive educational/behavioral therapy may modify their neural circuitry before it goes too much awry, correcting it before autism becomes permanent.

A wide spectrum of educational/behavioral therapies were developed during the last decades of the twentieth century under the umbrella of applied behavior analysis (ABA), the science of human behavior. ABA is the process of systematically applying interventions based upon the principles of learning theory to improve socially significant behaviors to a meaningful degree. ABA methods treat autism with particular strategies: using reinforcement procedures to increase on-task behavior and social interactions; teaching new skills (functional life skills, communication skills, or social skills); maintaining desirable behaviors (teaching self-control and self-monitoring procedures to maintain social skills); transferring behavior from one situation or response to another (from completing assignments in the resource room to performing as well in the mainstream classroom); reducing interfering behaviors (e.g., self-injury).

Specific educational/behavioral therapy programs for the treatment of autism include, for example, the following:

  • The Miller Method. Developed at the Language and Cognitive Development Center (LCDC) in Boston, MA. The LCDC is a Massachusetts Chapter 766-approved day school, serving students with autism or PDD ages three to 14. The LCDC specializes in a particular approach to teaching children with autism. The Miller Method extensively uses adaptive equipment, including platforms (to elevate the child so as to help increase eye contact), large swinging balls (to expand the child's reality system) and Swiss cheese boards (to teach motor planning, as well as to increase the child's understanding of his or her relation to environment and space).
  • Discrete Trial Training (DTT). DTT methodology has been likened to controlling the river of information and interaction that typically confronts the child with autism such that it is presented one drop at a time. This control manages learning opportunities so that skills are more easily mastered by the child. Learning occurs in small steps. Simple skills must be mastered before new learning opportunities are presented, in which the child then builds upon the mastered skill toward a more complex one.
  • Treatment and Education of Autistic and Communication Handicapped Children (TEACCH). TEACCH is a statewide program in North Carolina that tries to respond to the needs of autistic people by using the best available approaches and methods. The TEACCH approach includes a focus on the person with autism and development of a program around this person's skills, interests, and needs. The major priorities include centering on the individual, understanding autism, adopting appropriate adaptations, and a broadly based intervention strategy building on existing skills and interests.

Alternative treatment

Some alternative treatments have been proposed for autism. They include:

  • The Son-Rise program. The Son-Rise program was created by Barry and Samahria Lyte Kaufman in the 1970s, as a means to teach their own son, who was diagnosed with autism and mental retardation . The program ranges from one week to six months and is designed to teach parents, professionals, and support staff of children with a wide range of disabilities how to implement home-based programs based upon the Kaufmans' theories of learning. There have been no studies of the Son-Rise Program's effectiveness, and the method has not been subjected to scientific evaluation.
  • Megavitamin therapy. Some studies have shown that vitamin B6 improves eye contact and speech and lessens tantrum behavior. Vitamin B6 causes fewer side effects than other medications and is considered safe when used in appropriate doses. However, not many health practitioners advocate its use in the treatment of autism, citing that the studies showing its benefit were flawed.

Nutritional concerns

Dimethylglycine (DMG) is a compound available in many health food stores, that is legally classified as a food, not a vitamin or drug. Some researchers claim that it improves speech in children with autism. Those who respond to this treatment usually do so within a week. Many doctors, however, do not feel that the studies are adequate to promote DMG in the diet of autistic individuals.

Prognosis

People with autism have normal life expectancies. Symptoms in many children improve with treatment, or as the children grow up, some eventually are able to lead normal or near-normal lives. Adolescence can worsen behavior problems in some children, and treatment should be adjusted for the child's changing needs. According to the National Institute of Neurological Disorders and Stroke (NINDS), about one third of children with ASDs eventually develop epilepsy. The risk is highest in children with severe cognitive impairment and motor deficits.

Prevention

Since the cause of the brain anomalies associated with autism is not known, prevention is not possible.

Parental concerns

Following a diagnosis of autism, parents need to work with health and education professionals for the child's benefit. Specifically, they need to take the following steps:

KEY TERMS

Antidepressant drug A medication prescribed to relieve major depression. Classes of antidepressants include selective serotonin reuptake inhibitors (fluoxetine/Prozac, sertraline/Zoloft), tricyclics (amitriptyline/Elavil), MAOIs (phenelzine/Nardil), and heterocyclics (bupropion/Wellbutrin, trazodone/Desyrel).

Asperger syndrome A developmental disorder of childhood characterized by autistic behavior but without the same difficulties acquiring language that children with autism have.

Congenital rubella syndrome (CRS) Viral illness caused by a togavirus of the genus Rubivirus. When rubella infection occurs during pregnancy, fetal infection is likely and often causes congenital rubella syndrome (CRS), resulting in miscarriages, stillbirths, and severe birth defects. Up to 20 percent of the infants born to mothers infected during the first half of pregnancy have CRS. The most common congenital defects are cataracts, heart disease, deafness, and mental retardation.

Echolalia Involuntary echoing of the last word, phrase, or sentence spoken by someone else.

Fragile X syndrome A genetic condition related to the X chromosome that affects mental, physical, and sensory development. It is the most common form of inherited mental retardation.

Pervasive developmental disorder A category of childhood disorder that includes Asperger syndrome and Rett's disorder. The PDDs are sometimes referred to collectively as autistic spectrum disorders.

Phenylketonuria (PKU) A rare, inherited, metabolic disorder in which the enzyme necessary to break down and use phenylalanine, an amino acid necessary for normal growth and development, is lacking. As a result, phenylalanine builds up in the body causing mental retardation and other neurological problems.

Tranquilizer A medication that has a calming effect and is used to treat anxiety and mental tension.

Tuberous sclerosis A genetic condition that affects many organ systems including the brain, skin, heart, eyes, and lungs. Benign (non-cancerous) growths or tumors called hamartomas form in various parts of the body, disrupting their normal function.

  • Be informed. Parents should learn as much as they can about autism so that they can be involved in determining care.
  • Be prepared. Parents should prepare for meetings with doctors, therapists, and school personnel. They should ask questions and communicate their concerns regarding treatment issues and the impact of the diagnosis on the family.
  • Be organized. Many parents find it useful to keep a notebook detailing their child's diagnosis, treatment, and the meetings they have with professionals.
  • Communicate effectively. Open communication is very important. If parents disagree with a professional's recommendation, for example, they should communicate specifically why they disagree.

See also Fragile X syndrome; Pervasive developmental disorders; Phenylketonuria.

Resources

BOOKS

Barron, Judy, and Sean Barron. There's a Boy in Here. Arlington, TX: Future Horizons, 2002.

Boushey, Ann. Parent to Parent: Information and Inspiration for Parents Dealing with Autism and Asperger's Syndrome. Herndon, VA: Jessica Kingsley Publishers, 2004.

Buten, Howard. Through the Glass Wall: Journeys into the Closed-off Worlds of the Autistic. New York: Bantam Books, 2005.

Coleman, Mary. The Neurology of Autism. Oxford, UK: Oxford University Press, 2005.

Griffin, Elizabeth. Fragile X, Fragile Hope: Finding Joy in Parenting a Special Needs Child. Lynnwood, WA: Emerald Books, 2004.

Hamilton, Lynn M. Facing Autism: Giving Parents Reasons for Hope and Guidance for Help. New York: Waterbrook Press, 2000.

Harris, Sandra L., and Lara Delmolino. Motivating People with Autism Spectrum Disorders to Learn and Gain Independence. Bethesda, MD: Woodbine House, 2004.

PERIODICALS

Barrett, S., et al. "Children on the borderlands of autism: differential characteristics in social, imaginative, communicative, and repetitive behavior domains." Autism 8, no. 1 (March 2004): 6187.

Lord, C., et al. "Regression and word loss in autistic spectrum disorders." Journal of Child Psychology and Psychiatry 45, no. 5 (July 2004): 93655.

Lewis, W. "Play and language in children with autism." Autism 7, no. 4 (December 2003): 39199.

Muhle, R., et al. "The genetics of autism." Journal of Pediatrics 113, no. 5 (May 2004): 47286.

Nader, R., et al. "Expression of pain in children with autism." Clinical Journal of Pain 20, no. 2 (March-April 2004): 8897.

Pinto-Martin, J., and S. E. Levy. "Early Diagnosis of Autism Spectrum Disorders." Current Treatment Options in Neurology 6, no. 5 (September 2004): 391400.

Whitaker, P. "Supporting families of preschool children with autism: what parents want and what helps." Autism 6, no. 4 (December 2002): 41116.

Williams, K. R., and J. G. Wishart. "The Son-Rise Program intervention for autism: an investigation into family experiences." Journal of Intellectual Disabilities Research 47, Pt. 45 (May-June 2003): 29199.

ORGANIZATIONS

Association for Science in Autism Treatment (ASAT). PO Box 7468, Portland, ME 041127468. Web site: <www.asatonline.org>.

Autism Network International (ANI). PO Box 35448, Syracuse, NY 132355448. Web site: <http://ani.autistics.org>.

Autism Research Institute (ARI). 4182 Adams Ave., San Diego, CA 92116. Web site: <www.autismresearchinstitute.com>.

Autism Society of America. 7910 Woodmont Avenue, Suite 300, Bethesda, MD 208143067. Web site: <www.autism-society.org>.

Families for Early Autism Treatment. PO Box 255722, Sacramento, CA 958655722. Web site: <www.feat.org>.

MAAP Services for Autism, Asperger's, and PDD. PO Box 524, Crown Point, IN 46308. Web site: <www.maapservices.org>.

National Alliance for Autism Research (NAAR). 99 Wall Street, Research Park, Princeton, NJ 08540. Web site: <www.naar.org>.

National Autism Hotline. Autism Services Center, 605 Ninth St., Huntington, WV 25710. Web site: <.>.

National Institute of Child Health and Human Development (NICHD). 31 Center Drive, Rm. 2A32, MSC 2425, Bethesda, MD 208922425. Web site: <www.nichd.nih.gov>.

National Institute of Mental Health (NIMH). 6001 Executive Blvd., Rm. 8184, MSC 9663, Bethesda, MD 208929663. Web site: <www.nimh.nih.gov>.

WEB SITES

"Different Roads to Learning: The resource dedicated to helping children with autism learn and grow." Available online at <www.difflearn.com> (accessed October 11, 2004.)

Monique Laberge, Ph.D.

Autism

views updated Jun 27 2018

Autism

A singular world view

Abundance of theories

Teaching and learning

Resources

Autism is a profound mental disorder marked by an inability to communicate and interact with others. The conditions characteristics include language abnormalities, restricted and repetitive interests, and the appearance of these characteristics in early childhood. The disorder begins in infancy, but typically is not diagnosed until the ages two to five years. Although individuals with autism are more likely to be mentally retarded than other individuals some people with the disorder have a high intelligence level. The cause of autism is unknown although it is probably biological in origin.

According to the U.S. Centers for Disease Control and Prevention (CDC), a little over 15, 500 cases of autism were reported in the United States in 1992 for people six years to 22 years old. In just over ten years, the number of reported cases steadily climbed over the years, reaching over 141,000 in 2003. As of 2006, the National Institutes of Health, CDC, U.S. Department of Education, and the Autism Society of America reports that autism could afflict (unreported and reported) as many as 1.0 to 1.5 million people in the United States. These organizations consider autism to be the fastest growing developmental disability in the country. In addition, autism is found four times more often in boys (usually the first-born) and it occurs around the world in people of all races and social backgrounds. Autism usually is evident in the first three years of life, although sometimes the condition is not diagnosed until a child enters school.

A singular world view

Children with autism were described as early as 1908 by Theodor Heller (18691938), a Viennese educator. Autism was not named and identified as a distinct condition until 1943. That year American psychiatrist Leo Kanner wrote about what he called infantile autism. Kanner derived the term autism from the Latin word aut, meaning self. Kanner described a group of children who looked normal but showed limited communication skills and were drawn to repetitive behavior. Researchers have since discovered that the disorder is not common, occurring in two to five of every 10, 000 births; although some researchers now contend that autism occurs much more frequently: one in 250 births in the United States. The disorder is more common in males than in females.

As many as two-thirds of children with autistic symptoms are mentally deficient. But individuals with autism can be highly intelligent. Some achieve great levels of success at school and at work. The term autism is more a description of a range of behavioral traits than a term to describe a single type of person with a single level of potential.

Autistic individuals generally share a defect in the theory of mind. This term is used to describe the way normal individuals develop a sense of what others are thinking and feeling. This sense is usually developed by about age four years. Autistic individuals typically are limited in their ability to communicate nonverbally and verbally. About half of all autistic people never learn to speak. They are likely to fail in developing social relationships with peers, have limited ability to initiate conversation if they do learn how to talk, and show a need for routines and rituals.

The range of ability and intelligence among autistic individuals is great. Some individuals are profoundly withdrawn. These aloof individuals generally do not greet parents when they enter the house or seek comfort when in pain. Others can conduct a conversation but may be obsessed with strange or unusual behaviors, such as a fascination with calendars or timetables. Still others use their ability to focus on particular bodies of fact to master a job or a profession. For instance, Temple Grandin has attained an educational level of Ph.D. (doctor of philosophy) and is a successful animal behavior expert who is autistic and an international expert in her field.

Certain autistic people have areas of expertise in which they are superior to normal individuals. These skills are called savant abilities and have been well documented in music, drawing, and areas where calculation is involved. The vibrant drawings of buildings by autistic British artist Stephen Wiltshire have been published to great acclaim.

Abundance of theories

The precise cause of autism is not known and many theories have emerged concerning its origin. Initially autism was believed to be caused by destructive parents. Kanner observed in 1943 that there are few really warmhearted fathers and mothers among parents of autistic children (Groden 1988). Other experts suggested that parents of autistic children are more likely to be cold and unsupportive of their children than parents of normal children. In the 1950s and 1960s it was still generally believed that this parental behavior caused autism. Children were therefore advised to have psychotherapy for autism. This therapy was generally unsuccessful. Some experts suggested that autistic children be removed from their parents.

In the mid-1960s experts began to challenge the assumption that parents cause autism. Evidence emerged that while autistic children look normal they have particular physical abnormalities. These include a higher-than-normal likelihood of epilepsyit occurs in as many as 30% of children with autism. Researchers also looked at the way parents interacted with autistic children. Their findings showed that parents of autistic children are equally as skilled as parents of normal children on average.

The general belief today is that autism is a biological disorder and has nothing to do with parenting skill. Clues to what causes autism include a wealth of abnormalities documented to occur in higher percentages among autistic people than normal people. These include certain genetic conditions, epilepsy, mental disabilities, and some birth defects.

Genetics appears to play a role in autism but its role is not completely understood. Brothers or sisters of individuals with autism are slightly more likely than others to be autistic. Approximately 2 to 3% of siblings of autistic people have the disorder. The twin of an autistic individual is also more likely to have autism.

The occurrence of fragile X syndrome, a genetic disorder, in about 10% of autistic people has presented researchers with a documented cause of the disorder. Fragile X victims have a gap on their X chromosome. The condition is generally linked to mental disabilities and a characteristic facial appearance (a high forehead and long ears) among other traits. Brothers or sisters of individuals with fragile X syndrome are nearly 50% more likely to be autistic than are brothers and sisters of normal children. It is not clear what causes the syndrome.

Another genetic trait more common among autistic individuals than others is neurofibromatosis, a genetic condition which affects the skin and the nerves and sometimes causes brain damage. Researchers also have noted that mothers of autistic children are more likely to receive medication during pregnancy. They have also found that autistic children are more likely to have been born with meconium (the first stool of the infant) in the amniotic fluid during labor. However these events also commonly occur among normal children. Other possible causes of autism include rubella infection in early pregnancy, herpes encephalitis (which can cause inflammation of the brain), and cytomegalovirus infection.

Whatever the cause of the damage, various abnormalities in the autistic brain have been documented. These include variations in the frontal lobes of the brain which focus on control and planning, and in the limbic system. The limbic system is a group of structures in the brain which are linked to emotion, behavior, smell, and other functions. Autistic individuals may suffer from a limited development of the limbic system. This would explain some of the difficulties faced by autistic individuals in processing information.

Studies using MRI (magnetic resonance imaging) scanners have found abnormalities in the cerebellum. Some researchers suggest that the section where abnormalities have been documented is the part of the brain concerned with attention. Other tests using electroencephalograms have found that autistic

KEY TERMS

Limbic system A group of structures in the brain including the hippocampus and dentate gyrus. These structures are associated with smell, emotion, behavior, and other brain activity.

Psychotherapy A broad term that usually refers to interpersonal verbal treatment of disease or disorder that addresses psychological and social factors.

children show abnormalities in the way the brain processes sound.

Teaching and learning

As theories about the cause of autism have changed so have approaches to teaching autistic individuals. Individuals with autism were once considered unteachable and were often institutionalized. Experts currently recommend early education for autistic individuals using approaches geared specifically for them. Those who cannot speak may learn sign language. Often some form of behavioral modification is suggested including offering positive reinforcement for good behavior.

Given the need for organization and repetitive behavior among autistic people, many experts suggest a structured environment with a clearly defined schedule. Some experts advocate special schools for autistic children while others recommend including them in a general school program with appropriate help.

Controversy exists concerning the best way to teach and communicate with autistic children who do not speak. In the 1980s some parents and educators claimed great success using so-called facilitated communication. This technique involves the use of a keyboard or letter board and a facilitator to help the autistic individual use the device. Some have said the device allows autistic individuals to break through the barriers of communication. Others have criticized facilitated communication as a contrived and false method of communication. The technique remains controversial.

Earlier generations placed autistic children in institutions. Today, even severely disabled children can be helped in a less restrictive environment to develop to their highest potential. Many become more responsive to others as they learn to understand the world around them, and some can lead nearly normal lives.

With no cure and no prenatal test for autism, there is no prospect of eliminating this condition in the near future. Continued educational research concerning the best way to teach autistic children and continued scientific research concerning possible treatments for autism are the greatest hope for dealing with the effects of this profound developmental problem.

Resources

BOOKS

Autism and Genes. Rockville, MD: National Institute of Child Health and Human Development, 2005.

Breakey, Christine. The Autism Spectrum and Further Education: A Guide to Good Practice. London, UK: Jessica Kingsley Publishers, 2006.

Hart, Charles A. A Parents Guide to Autism. New York: Pocket Books, 2001.

Hesmondhalgh, Matthew. Autism, Access and Inclusion on the Front Line: Confessions of an Autism Anorak. London, UK: Jessica Kingsley Publishers, 2006.

Tuchman, Roberto, and Isabelle Rapin, eds. Autism: A Neurological Disorder of Early Brain Development. London, UK: MacKeith Press for the International Child Neurology Association, 2006.

Volkmar, Fred R., ed. Handbook of Autism and Pervasive Developmental Disorders. Hoboken, NJ: John Wiley, 2005.

Zager, Dianne, ed. Autism Spectrum Disorders: Identification, Education, and Treatment. Mahwah, NJ: Lawrence Erlbaum Associates, 2005.

PERIODICALS

Interventions To Facilitate Social Interaction For Young Children. Journal of Autism and Developmental Disorders. 32, no. 5-5 (2002): 351-372.

Patricia Braus

Autism

views updated May 29 2018

AUTISM

DEFINITION


Autism is a severe disorder of brain function. It is marked by problems with social contact, intelligence, and use of language. People who suffer from autism usually exhibit behaviors that are repeated over and over again in very standard patterns.

DESCRIPTION


Autism is a lifelong disorder. It interferes with a person's ability to understand what he or she sees, hears, and touches. For this reason, a person with autism has very difficult problems knowing how to behave properly and how to interact with other people. The person has to be taught behaviors that develop normally in most people. Autism varies in its degree of severity among individuals. The disease has a full range of symptoms, ranging from mild to severe.

Autism occurs in about 1 out of every 1,000 children. It is found four times more often in boys than in girls. It occurs everywhere in the world among all races and social backgrounds. Autism is usually evident in the first three years of life. In some children, the disease is difficult to detect. It may not be diagnosed until the child enters school.

Some children with autism have an unusual form of the disease. They show a unique talent in one specific area, such as mathematics, memory, music, or art. These children are known as autistic savants (pronounced sa-VAHNT), or intellectual autistics.

CAUSES


Autism is a brain disorder that affects the way the brain uses or transmits information. This disorder almost certainly develops before the child is born. The problem may be located in parts of the brain that process information that comes from the senses, such as the eyes and ears.

Autism appears to be a genetic disorder. Identical twins are more likely to both have the disease than are fraternal twins. Identical twins have exactly the same genetic make-up. Fraternal twins do not. In a family with one autistic child, the chance of having a second autistic child is about one in twenty. That rate is fifty times greater than in the general population.

Relatives of autistic children sometimes display autistic-like behaviors. For example, they may have problems communicating with other people, or they may repeat certain behaviors over and over again. They may also have certain emotional disorders.

In a few cases, autistic behavior is caused by a disease, such as rubella (German measles; see rubella entry) in a pregnant woman, encephalitis (pronounced in-seh-fuh-LIE-tess; brain fever; see encephalitis entry), or phenylketonuria (pronounced fen-uhl-keet-n-YOOR-ee-uh, PKU) left untreated.

SYMPTOMS


The severity of autism varies among individuals. Some children have severe symptoms. They may act aggressively against other people and even try to harm themselves. Other children have mild symptoms. They may have problems getting along with others and have mild learning disorders.

Autism: Words to Know

Antidepressants:
Medications that treat depression and that can also be used to treat autism.
Asperger syndrome:
A type of autism that involves no problems with language.
Encephalitis:
An inflammation of the brain caused by a viral infection.
Fragile X syndrome:
A genetic condition involving the X chromosome that results in mental, physical, and sensory problems.
Opiate blockers:
Drugs that interfere with the action of natural opiates, substances that cause sleepiness and numbness.
Phenylketonuria (PKU):
A genetic disorder in which a person's body is unable to break down the amino acid phenylalanine, causing damage to the brain.
Stimulants:
A class of drugs that tends to arouse the body but that seem to calm down children with autism.
Tranquilizers:
Drugs that help a person to calm down.

The most common symptom of autism is a serious inability to relate to other people. Infants with the disorder refuse to cuddle and avoid eye contact. They do not seem to want or need physical contact or affection. They become stiff or totally relaxed when held and begin to cry when picked up. Autistic babies form no attachment to their parents and are frightened by strangers. They do not learn typical childhood games, such as peek-a-boo.

Language Problems

Autistic children may not speak at all. If they do, it is often in single words. They may repeat words or phrases over and over again. Pronouns may get reversed, as in "You go sleep" instead of "I want to go to sleep."

Restricted Interests and Activity

Autistic children usually do not play normally. They do not act out adult roles, such as pretending to be a doctor or parent. Nor do they use their imaginations to create fantasy worlds. Instead, they repeat simple behaviors of the people around them.

These behaviors may become complex and ritualistic. That is, they are repeated over and over again in a very precise way. Autistic children are also prone to strange behavior patterns such as screaming fits, rocking back and forth, arm flapping, and finger twiddling. Austic children may play with their own saliva, feces, or urine. They may be self-destructive, biting their own hands, gouging at their eyes, pulling their hair, or banging their heads.

Sensory Problems

The world of sight and sound poses a real problem to many autistic children. They may ignore objects or become obsessed by them. Or they may watch those objects very carefully or act as if they are not even there. Sounds can also be a problem. Autistic children may react to sounds by banging their heads or flapping their fingers.

Some adults who have overcome autism have written books about their childhood experiences. They report that sounds were often terribly painful to them. They were forced to withdraw into their own world to avoid dealing with the sounds of the real world.

Intellectual Problems

Most autistic children appear to be somewhat mentally challenged. They may giggle or cry for no reason. They may be very frightened of harmless objects, but have no fear of real danger.

DIAGNOSIS


There is no medical test for autism. It is diagnosed by observing a child's behavior, communication skills, and interactions with other people. The problem is that the symptoms of autism are varied, so the disease may not be recognized for a long time. It is easily confused with other diseases with similar symptoms, such as fragile X syndrome and untreated phenylketonuria.

The first step in diagnosing autism is a series of medical tests to rule out other diseases. Then mental health experts use various signs to diagnose the disease. These include:

  • Problems in developing friendships
  • Problems with make-believe or social play
  • Endlessly repeated words or phrases
  • Difficulty in carrying on a conversation
  • Obsessions with rituals
  • Fascination with parts of objects

Some children have some, but not all, of the symptoms of autism. For example, some children exhibit autistic behaviors, but have no problems with language. This condition is known as Asperger syndrome. Some children seem normal at first, but develop autism as they grow older. This condition is known as childhood disintegrative disorder (CDD).

THE HUG BOX

Some behavioral treatments for autism are quite simple. An example is the hug box, which was invented by Temple Grandin. Grandin is an adult with autism who has written two books about her life, Emergence: Labeled Autistic and Thinking in Pictures.

Grandin remembers what her childhood years as an autistic were like. One memory she has was the need to feel somebody or something close around her. Sometimes she would crawl under sofa cushions or wrap herself in a blanket. As she grew older Grandin realized that the feeling of pressure all around her helped her to relax.

As an adult, she decided to develop a treatment for other autistic children based on her own experience. So, she invented the hug box.

The hug box consists of two boards covered with padding, which are hinged along one edge to form a V-shaped device. The device is big enough for a child to comfortably crawl in. The two boards can be pushed closer together simply by pushing on a lever. This allows a child to get a short hug or a long hug, a tight hug or a loose hug.

The hug box seems to be successful in helping some autistic children to feel better and relax. They are now being used in many hospitals and care centers around the United States.

TREATMENT


There is no cure for autism. Treatments are aimed at reducing specific symptoms. Since symptoms differ from person to person, no single treatment program works for every patient. Some of the treatments used include training in music, listening, vision, speech, and language. Special diets and medication may also be prescribed.

People with autism can improve significantly with proper treatment. A child with autism learns best in a well organized environment with a single specially trained teacher. The two treatments used most often include educational or behavior treatment and medication.

Educational or Behavioral Treatment

In this form of treatment, autistic children are rewarded for correct (good) behaviors. A child who speaks correctly, for example, might be given a piece of candy or other favorite food. Over time, correct behaviors become more common and incorrect behaviors less common. This form of treatment should be started as early as possible. It seems to affect the way the child's brain develops, making autistic behavior less likely.

Educational and behavioral treatments seem to work best when carried out at home. In many cases, however, these treatments occur in specialized schools, at day care, or in psychiatric hospitals.

Medication

No single medication has been found to work with all features of autism. A combination of drugs can be used, however, to treat the most serious symptoms.

These symptoms include aggressiveness and the tendency to injure oneself. Drugs can also be used to control epilepsy (see epilepsy entry), which affects about 20 percent of patients with autism.

Five types of drugs are used to treat autism:

  • Stimulants, such as methylphenidate (pronounced meth-uhl-FEN-uh-date, trade name Ritalin)
  • Antidepressants, such as fluroxamine (trade name Luvox)
  • Opiate blockers, such as naltrexone (pronounced nal-TREK-sone, trade name ReVia)
  • Antipsychotics
  • Tranquilizers

Most experts recommend a combination of drug therapies that begins early and continues through the teenage years. Behavioral treatments are used in combination with medications.

Alternative Treatments

Many parents report success with megavitamin therapy. Megavitamin therapy involves the use of very large doses of vitamins. Vitamin B6 seems to improve eye contact and speech. It may also reduce tantrums. Vitamin B6 has few side effects and is considered safe to use. However, many health practitioners are not convinced by parent reports or scientific studies reported thus far.

Dimethylglycine (DMG)

DMG is chemically similar to glycine, a naturally occurring amino acid. It is available in many health food stores. Some people believe that it improves speech in autistic children. Those who respond to DMG usually do so within a week. Again, many doctors are not convinced about the effectiveness of this compound.

Exercise

One research study has found that vigorous exercise decreases some of the symptoms of autism. Additional research is needed to confirm this finding.

PROGNOSIS


People with autism have a normal life expectancy, but there is no available cure. However, many of its symptoms can be relieved by treatment. At one time, autistic children were placed in institutions, from which they might never be released. Today, most autistic children can be treated at home, in special schools, and in other more comfortable and familiar settings. Some eventually come to understand the world better and to learn how to interact with other people. They can go on to lead nearly normal lives. Some may be able to handle a job. The best work settings for autistic people are those with structure in which the same task is repeated over and over again.

PREVENTION


There is currently no known way of preventing autism.

FOR MORE INFORMATION


Books

Barron, Sean, and Judy Barron. There's a Boy in Here. New York: Simon & Schuster, 1992.

Bratt, Berneen. No Time for Jello. Cambridge, MA: Brookline Books, 1989.

Cohen, Shirley. Targeting Autism: What We Know, Don't Know, and Can Do to Help Young Children with Autism and Related Disorders. Berkeley: University of California Press, 1998.

Grandin, Temple, and Oliver Sacks. Thinking in Pictures: And Other Reports from My Life With Autism. New York: Vintage Books, 1996.

Grandin, Temple, and Margaret M. Scariano. Emergence: Labeled Autistic. New York: Warner Books, 1996.

Greenfield, Josh. A Child Named Noah. New York: Holt, Rinehart and Winston, 1971.

Hart, Charles. A Parent's Guide to Autism: Answers to the Most Common Questions. New York: Pocket Books, 1993.

Kaufman, Barry Neil. Son-Rise. New York: Harper & Row, 1976.

Williams, Donna. Nobody Knows. New York: Times Books, 1992.

Periodicals

Roeder, Jason, "Can Medication Change Behavior in Autism?" The Exceptional Parent (November 1995): pp. 5054.

Shapiro, Joseph, "Beyond the Rain Main: A Singular Woman Changes the Cattle Industry and Our Image of Autism." U.S. News & World Report (May 27, 1996): pp. 7879.

Organizations

Autism Network International. PO Box 448, Syracuse, NY 13210.

Autism Research Institute. 4182 Adams Avenue, San Diego, CA 92116. (619) 2817165.

Autism Society of America. 7910 Woodmont Avenue, Suite 650, Bethesda, MD 20814. (301) 6570881; (800) 3AUTISM. http://www.autism-society.org.

Center for the Study of Autism. P.O. Box 4538, Salem, OR 97302. http://www.autism.org

National Autism Hotline. c/o Autism Services Center, PO Box 507, 605 Ninth Street, Huntington, WV 25710. (304) 5258014.

Web sites

National Alliance for Autism Research. http://www.naar.org (accessed on October 18, 1999).

National Information Center for Children and Youth with Disabilities. http://www.nichcy.org (accessed on October 18, 1999).

"Autism." Drkoop.com Medical Encyclopedia. [Online] http://www.drkoop.com/conditions/encyclopedia/articles/025000a/autism.html?id=avkey.autism.lk (accessed on October 18, 1999).

Autism

views updated May 18 2018

Autism

Definition

Autism is a behavior disorder, characterized by an impairment in social communication, social interaction, and social imagination. Those with autism often have a restricted range of interests and display repetitive behaviors and mannerisms, along with altered reactions to the everyday environment.

Description

In 1943, the American physician Leo Kanner published his seminal paper, in which he described 11 children who were socially isolated, with "autistic disturbances of affective contact," impaired communication, and behavioral inflexibility. He coined the term "infantile autism" and discussed the causes in terms of biological processes, although at that time, most scientific attention was focused on analytical theories of the disorder. Kanner's paper did not initially receive much scientific credit, and children with autistic symptoms continued to be incorrectly diagnosed with childhood schizophrenia . His choice of the term "autism" may have created some confusion, because the word was first used to describe a mental state of fantastical, self-centered thought processes, similar to the symptoms of schizophrenia.

During the development of the disorder, the first year of life is usually marked with no clear discriminating features. Between two and three years of age, children show impairment in language development, especially comprehension; unusual language usage; poor response to name calling; deficient non-verbal communication; minimal recognition or responsiveness to other people's happiness or distress; and limited variety of imaginative play or pretence, and especially social imagination.

During school age, children's abnormalities in language development (including muteness or the use of odd or inappropriate words), their social withdrawal, inability to join in with the play of other children, or inappropriate attempts at joint play often alert teachers and others to the possibility of an autistic type disorder. The manifestations of autism can also change with time during childhood, depending on other developmental impairments, personality, and the addition of medical or mental health problems.

Demographics

Autism is a disorder that affects predominantly males (four times as many males as females have autism). According to studies, autism is increasing in the pediatric population. In 1966, 45 babies per 10,000 births developed autism, while in 2003, two studies showed that between 1439 babies per 10,000 develop the disorder. Although there is no question that more clinical cases are being detected, the increase in prevalence of autism is in dispute as diagnostic practices have changed over the years and this heightened awareness has changed the evaluation of previously unrecognized cases.

Causes and symptoms

Although autism is behaviorally defined, it is now well recognized to be the endpoint of several organic causes. These include prenatal problems such as rubella (measles) infection, untreated metabolic disorders, and anticonvulsant medication taken during pregnancy, as well as postnatal infections such as encephalitis. A specific medical cause is found in only a minority of people with autism (610%, depending on the study). Epilepsy occurs more commonly than usual in patients with this disorder

and was one of the early indications that this was a neurobiological problem and not one caused by parental behavior or the environment.

In most people with autism, genetic factors play a key role. Multiple genes are likely to be involved, and studies have identified possible candidate genes on chromosomes 2, 7, 16, and 19. Autism has been associated with some genetic abnormalities, especially on chromosome 15, and it is also found associated with the "fragile X syndrome." Despite the fact autism is now agreed to be a neurobiological disorder, results from structural brain scans have not shown consistent features that point to a diagnosis of autism.

Symptoms of autism usually appear during the first three years of childhood and continue throughout life. Some common symptoms are:

  • absence or impairment of imaginative and social play
  • impaired ability to make friends with peers
  • impaired ability to initiate or sustain a conversation with others
  • stereotyped, repetitive, or unusual use of language
  • restricted patterns of interests that are abnormal in intensity or focus
  • apparently inflexible adherence to specific routines or rituals
  • preoccupation with parts of objects

Children with some symptoms of autism, but not a sufficient number to be diagnosed with the classical form of the disorder, often receive the diagnosis of pervasive developmental disorder, not otherwise specified (PDDNOS). People with autistic behavior, but also have well-developed language skills, are often diagnosed with Asperger syndrome. Children who appear normal in their first several years, then lose skills and begin showing autistic behavior, may be diagnosed with childhood disintegrative disorder (CDD). Girls with Rett syndrome , a sex-linked genetic disorder characterized by inadequate brain growth, seizures , and other neurological problems, may also show autistic behavior. PDD-NOS, Asperger syndrome, CDD, and Rett syndrome are referred to as autism spectrum disorders.

Diagnosis

Currently, there are no objective medical tests for the diagnosis of autism and no reproducible genetic or biological markers for the disorder. The diagnosis is made with a multidisciplinary approach involving a developmental pediatrician, psychologist, speech and language professional, audiologist, and special educator.

Using a standardized rating scale, the specialist closely observes and evaluates the child's language and social behavior. A structured interview is also used to elicit information from parents about the child's behavior and early development. Reviewing family videotapes, photos, and baby albums may help parents recall when each behavior first occurred and when the child reached certain developmental milestones. The specialists may also test for certain genetic and neurological problems.

Treatment team

The treatment of childhood autism traditionally falls within the competence of the psychiatrist and the psychologist and involves the application of various methods of individual therapy. Speech therapists can work with children to help them develop social and language skills because children learn most effectively and rapidly when very young.

Moreover, occupational therapists and physiotherapists are important professionals in the development and life quality improvement for patients and parents. The treatment involves a therapist's work with the child and with the caregivers, who work with the child at home under the therapist's direction. Basic medical assistance is provided by the pediatrician and other physicians.

Treatment

No definitive treatment regimes have thus far been developed for this serious disturbance and therapy is generally merely supportive. Some attempts have been made to support such therapy with psychiatry and psychology, as well as high doses of vitamin B6, vitamin E, and magnesium. Various psychoactive drugs have also been tried, as well as a group of medications called H2 blockers. A "hugging machine" has been built to support therapy by the holding method. This device makes it possible for children with autism to overcome their fear of touch (tactile stimuli).

An alternative treatment approach has been attempted using secretin, which is a hormone secreted by cells in the digestive tract to help control digestion. The history of the application of secretin in the treatment of childhood autism dates back to 1996, when, by coincidence, a significant improvement in mental condition was noticed in a child with autism who had received secretin for diagnostic purposes. When it was administrated, one of the chief symptoms of autism, the avoidance of eye contact, was 75% reduced. Some additional children with autism also showed limited improvement after treatment with secretin. On January 5, 2004, results of a clinical trial revealed that the hormone was of little value in improving the socialization of young children with autism. Nevertheless, many parents and physicians continue to advocate development of the drug and further study.

Recovery and rehabilitation

A wide variety of long-term interventions have been advocated for children with autism. These include applied behavioral analysis, use of pictures for expressive communication (as in the picture exchange communication system), and intensive exercise programs. Therapists working in schools now recognize the holistic learning needs of the child, including personal and emotional growth as well as opportunities to broaden their experiences, regardless of whether measurable developmental progress is made.

Clinical trials

As of early 2004, there were numerous open clinical trials for autism, including:

  • drug treatment for autism at the National Institute of Mental Health (NIMH)
  • synthetic human secretin in children with autism, sponsored by Repligen Corporation
  • improving attention skills of children with autism at the National Institute of Child Health and Human Development (NICHD) in collaboration with the National Institute of Mental Health (NIMH)
  • study of fluoxetine in adults with autistic disorder
  • a controlled study of olanzapine in children with autism, sponsored by the FDA Office of Orphan Products Development
  • randomized study of fluoxetine in children and adolescents with autism, sponsored by the FDA Office of Orphan Products Development and Mount Sinai Medical Center
  • valproate response in aggressive autistic adolescents at the NICHD and the NIMH
  • brain imaging of childhood onset psychiatric disorders, endocrine disorders, and healthy children at the NIMH

Prognosis

Among individuals suffering with autism, 75% have a poor outcome and 25% show significant improvement. Acquisition of language before the age of six years old, IQ levels above 50, and having a special skill, such as expertise in computers, predict good outcome. For people with severe autism, independent living and social functioning are unlikely. For those with higher functioning autism, the jobs acquired are often below their education level. The social interactions of most adults with autism are limited or modified.

Special concerns

Most scientists concur that autism has a strong biological basis, with evidence continuing to accumulate for an underlying genetic cause that results in abnormal brain development. Future genetic and brain-imaging studies will undoubtedly contribute to a greater understanding of the disorder's etiology and pathophysiology. The combination of continually evolving methodological and technological advances will, hopefully, bring science closer to the goal of better and earlier intervention in autism.

Resources

BOOKS

Edelson, Stephen M., and Bernard Rimland. Treating Autism: Parent Stories of Hope and Success. San Diego, CA: Autism Research Institute, 2003.

Harris, Sandra L., and Beth A. Glasberg. Siblings of Children With Autism: A Guide for Families (Topics in Autism). Bethesda, MD: Woodbine House, 2003.

Seroussi, Karyn. Unraveling the Mystery of Autism and Pervasive Developmental Disorder: A Mother's Story of Research and Recovery. New York, NY: Broadway, 2002.

PERIODICALS

Baird, G., H. Cass, and V. Slonims. "Diagnosis of Autism." BMJM 327 (August 2003): 448493.

Kamińska, B., et al. "Use of Secretin in the Treatment of Childhood Autism." Med Sci Monit 8 (January 2002): RA2226.

Nicolson, R., and P. Szatmari. "Genetic and Neurodevelopmental Influences in Autistic Disorder." Canadian Journal of Psychiatry 8 (September 2003): 526537.

Tidmarsh, L., and F. Volkmar. "Diagnosis and Epidemiology of Autism Spectrum Disorders." The Canadian Journal of Psychiatry 8 (September 2003): 517525.

Torres, A. "Is Fever Suppression Involved in the Etiology of Autism and Neurodevelopmental Disorders?" BMC Pediatric (September 2003): 39.

OTHER

Autism Society of America. January 3, 2004 (February 18, 2004). <http://www.autism-society.org>.

National Institute of Mental Health. January 3, 2004 (February 18, 2004). <http://www.nimh.nih.gov>.

ORGANIZATIONS

Autism Society of America. 7910 Woodmont Ave. Suite 300, Bethesda, MD 20814-3067. (301) 657-0881; Fax: (301) 657-0869. [email protected]. <http://www.autism-society.org/>.

Cure Autism Now (CAN) Foundation. 5455 Wilshire Blvd. Suite 715, Los Angeles, CA 90036-4234. (323) 549-0500 or (888) 828-8476; Fax: (323) 549-0547. [email protected]. <http://www.cureautismnow.org/>.

National Institute of Child Health and Human Development (NICHD). 9000 Rockville Pike Bldg. 31, Rm. 2A32, Bethesda, MD 20892-2425. (301) 496-5133. [email protected]. <http://www.nichd.nih.gov/>.

National Institute of Mental Health (NIMH). 6001 Executive Boulevard, Room 8184, MSC 9663, Bethesda, MD 20892-9663. (301) 443-4513; Fax: (301) 443-4279. [email protected]. <http://www.nimh.nih.gov/>.

Francisco de Paula Careta

Greiciane Gaburro Paneto

Iuri Drumond Louro

Autism

views updated Jun 27 2018

Autism

Definition

Autism is a chronic and often severe disorder of brain functioning that begins during childhood. It is marked by problems with social contact, intelligence, and language, coupled with ritualistic or compulsive behavior, sensory integration and processing problems, and strange environmental responses.

Description

Autism is a lifelong disorder that interferes with the ability to understand what is seen, heard, and touched. This can cause profound problems in personal behavior

and in the ability to relate to others. A person with autism must learn how to communicate normally and how to relate to people, objects, and events. However, not all patients suffer the same degree of impairment. The severity of the condition varies between individuals, ranging from the person with extremely unusual and aggressive behavior to one with something resembling a mild personality disorder or a learning disability.

Autism occurs in as many as one in 1,000 children, and incidence is rapidly increasing. It is found three to four times more often in boys than in girls. The condition occurs around the world in all races and all social backgrounds. Autism usually is evident in the first three years of life, although in some children it is difficult to pinpoint when the problem actually takes hold. Often, the condition may not be diagnosed until the child enters school. A person with autism can have symptoms ranging from mild to severe.

Two subgroups of autism have recently been explained by clinicians. Those with essential autism, as defined by diagnostic tests, appear to have higher IQ scores and fewer seizures than those with complex autism, which offers a poorer outcome.

Causes & symptoms

Although the exact causes of autism are unknown, many possibilities have been proposed. Most experts believe that several independent factors contribute to development of autism. The number and combinations of these factors probably differ from person to person. Research points to such precipitating conditions as fetal alcohol syndrome, genetic connections (as with identical twins), brain stem defects, lead poisoning , a nervous system defect, infections , food and inhalant allergies , infant vaccination reactions, and digestive system deficiencies.

Further studies point to major disturbances in the body chemistry of children with autism. Disruption is most often found in fatty acid metabolism, electrolyte balances, problems with digestive functioning, production of red and white blood cells, and the body's balance of minerals. Diseases that may trigger autistic behavior include rubella in the pregnant mother, tuberous sclerosis, candiasis infection, fragile X syndrome, encephalitis, cytomegalovirus (CMV), a severe form of a herpes simplex infection, and untreated phenylketonuria.

There also appears to be a strong genetic basis for autism. In October 2001, the National Institutes of Health (NIH) reported that two regions of chromosomes contain genes involved with autism, and that two other chromosomes had a weaker relation to autism-related genes. Genetically identical twins are much more likely than fraternal twins to both have autism if one is affected. In a family with one autistic child, the chance of having another child with autism is about one in 20, much higher than in the normal population. Sometimes, relatives of an autistic child have mild behaviors that look very much like autism, such as repetitive behaviors and social or communication problems. Research also has found that some emotional disorders, such as manic depression , occur more often in families of a child with autism. At least one group of researchers has also found a link between an abnormal gene and autism. The gene may be just one of at least three to five genes that inter-act in some way to cause the condition. Scientists suspect that a faulty gene or genes might make a person vulnerable to develop autism in the presence of other factors, such as chemical imbalance, infection, or a lack of oxygen at birth.

Autism affects the way in which the brain uses or transmits information. Studies have found abnormalities in several parts of the brains of those with autism that almost certainly occurred during fetal development. The problem may be centered in the parts of the brain responsible for processing language and information from the senses. Profound problems with social interactions are the most common symptoms of autism. Infants with the disorder will not cuddle, avoid eye contact, and in general do not seem to like or require physical contact or affection. Often, the child will not form attachments to parents or the rest of the family. The child may not speak at all, or speak very little and may show bizarre patterns of speech, such as endlessly repeating words or phrases. About 10% of those with autism have an exceptional ability in particular areas, such as mathematics, memory, art, or music.

Most autistic children appear to be mentally retarded to at least some degree. Bizarre behavior patterns are very common and may include repeated mimicking of the actions of others, complex rituals, screaming fits, rhythmic rocking, arm flapping, finger twiddling, and crying without tears. Many of these children may react to sounds by banging their head or flapping fingers. Some less affected autistic adults who have written books about their childhood experiences report that sounds were often excruciatingly painful to them, forcing them to withdraw from the environment or to try to cope by withdrawing into their own invented world. A common characteristic of individuals with autism is an insistence on sameness. There may be strong reactions to changes in food, clothing, and routines.

Diagnosis

Autism is diagnosed by obtaining a developmental history of the child and observing and evaluating the child's behavior, communication skills, and social interactions. Because the symptoms of autism are so varied, the condition may go undiagnosed for some time. There is no medical test for autism. The condition is often missed, especially in mild cases or when additional handicaps are present. Special screening tools help physicians diagnose the condition. Medical tests are sometimes used to rule out other possible causes of autistic symptoms.

Treatment

Early intervention proves critical in managing autism. The American Academy of Pediatrics (AAP) says that many parents have chosen alternative therapies when more traditional therapies do not produce desired results. Among therapies mentioned in the group's report are nutritional supplements, elimination diets , immune globulin therapy, and secretin (a hormone) therapy.

There is often a strong nutritional dysfunction involved in autism. A major overhaul of the child's diet should be done, but very gradually. A healthy diet of whole foods with no preservatives or additives, including food dyes, is recommended. Autistic children may have particular difficulty handling Nutrasweet and monosodium glutamate (MSG), as these chemicals may further interfere with already disrupted nerve impulses. Processed foods such as white flour, white sugar, margarine, and hydrogenated fats should be avoided because they interfere with the stability of blood chemistry.

Many autistic children may be unable to effectively break down the protein in grains such as wheat, barley, and oats, called gluten, and the protein in milk called casein. Overgrowths of Candida albicans may be present and should be tested for and treated. Testing should also be done for food, chemical, and inhalant allergies. Digestive functioning should be tested and monitored. Extensive testing should be done for blood levels of chemicals in the body, as well. Allergens should be subsequently removed from the diet and environment; further dietary changes should be made to correct chemical imbalances. Possible gut and immune system dysfunction should also be addressed.

Studies have shown that supplementation with megadoses of vitamin B6 together with magnesium improves eye contact, speech, and behavior problems. Vitamin B6 causes fewer side effects than other medications, but megadoses should only be given under the supervision of a healthcare provider. A B-complex vitamin is probably the best way to give B6, due to the interdependent functioning of the B vitamins. Zinc and vitamin C supple-mentation is also recommended. In addition, dimethyl-glycine (DMG) has been reported to improve speech in some children with autism in as little as a week's time. Other therapeutic methods that have been shown to be helpful include special auditory integration training (AIT) based on the Berard method or the Tomatis method. Craniosacral therapy may also improve symptoms of autism by relieving compressions of the skull bones and membranes. Autism is a complex condition. A practitioner who has already worked with cases of autism successfully will be able to offer a comprehensive treatment plan.

Allopathic treatment

Most experts recommend a complex treatment regimen for autism that begins early in life and continues through the teenage years. Behavioral therapies are used in conjunction with medications and special diets. Because the symptoms vary so widely from one person to the next, there is not a single approach that works best for every person. Interventions include special training in music, listening, vision, speech and language, and senses. Sensory integration training may be used to normalize sensory functions. Training to change aberrant behaviors should be started as early in the autistic child's life as possible, since early intervention appears to have the most influence on brain development and functioning. A child with autism is able to learn best in a specialized, structured program that emphasizes individualized instruction.

No single medication has yet proved highly effective for the major features of autism. However, a variety of drugs can control self-injurious, aggressive, and other behaviors. Drugs also can control epilepsy , which afflicts up to 20% of people with autism. Types of recommended medication may include stimulants, such as methylphenidate (Ritalin); antidepressants, such as fluroxamine (Luvox); opiate blockers, such as naltrexone (ReVia); antipsychotics; and tranquilizers.

Expected results

Studies show that people with autism can improve significantly with proper treatment. While there is no cure, the negative behaviors of autism can be made to improve. Earlier generations placed autistic children in institutions; now, even severely disabled children can be helped to eventually become more responsive to others. Children with autism usually can learn to better understand and deal with the world around them. Some can even lead nearly mainstream lives.

Prevention

The mechanisms of autism are poorly understood. There is currently no known method of prevention for the condition. However, there is much debate as to what part the measles, mumps , and rubella (MMR) vaccination and the diphtheria, pertussis, and tetanus (DPT) vaccination may play in the onset of autism. A knowledgeable alternative healthcare provider should be consulted about the necessity of vaccination and possible alternatives.

Resources

BOOKS

Barron, Sean, and Judy Barron. There's a Boy in Here. New York: Simon & Schuster, 1992.

Bratt, Berneen. No Time for Jello. Massachusetttes: Brookline Books, 1989.

Cohen, Donald J., and Fred R. Volkmar. Handbook of Autism and Pervasive Developmental Disorders. John Wiley & Sons, 1997.

Cohen, Shirley. Targeting Autism: What We Know, Don't Know, and Can Do to Help Young Children with Autism and Related Disorders. California: University of California Press, 1998.

Hart, Charles. A Parent's Guide to Autism: Answers to the Most Common Questions. New York: Pocket Books, 1993.

PERIODICALS

Brunk D. "Three Tests Identify Two Autism Subgroups. (Two Types Termed Essential and Complex)." Pediatric News 35, no. 12 (December 2001): 24.

"Could New Changes be on the Horizon for Managing Autism?." The Brown University Child and Adolescent Behavior Letter 17, no. 7 (July 2001): 1.

"Autism Genes Identified." The Brown University Child and Adolescent Behavior Letter 17, no. 10 (October 2001): 1.

Patience Paradox

Teresa G. Odle

Autism

views updated May 29 2018

Autism

What Are Some Other Signs of Autism?

How Common Is Autism?

What Causes Autism?

How Is Autism Diagnosed and Treated?

Living with Autism

Resources

Autism (AW-tiz-um) is a brain disorder that affects a childs ability to develop normal communication skills and social responsiveness to other people. An infant with autism may seem to behave unusually from birth or may develop normally for a short time and then show autistic traits. To diagnose autism, symptoms must have been present before the child was 3 years old. Autism is part of a larger category of disorders called pervasive developmental disorders, all of which affect the brains development.

KEYWORDS

for searching the Internet and other reference sources

Asperger disorder

Brain disorders

Pervasive developmental disorder

People who are shy are not very talkative and often look down or away when someone else talks to them. They also seem to spend a lot of the time by themselves. Still, they do talk to people some of the time, especially to family members and friends with whom they learn to feel comfortable, and they like to be around people some of the time.

Children with autism may appear to be shy, but shyness and autism are very different from each other. The symptoms of autism can range from mild to severe. Children with the most extreme forms of autism are almost totally isolated socially. Lacking the ability to relate normally to others, they seem always to prefer to be alone. Even within their own family, they seldom make eye contact or try to share their interests in toys or other objects. Many children with autism never learn to talk at all. If they do, they use language in unusual ways, such as by constantly repeating rhymes or jingles. They may refer to themselves by their own name, or as you, instead of using I or me. Sometimes they just re-peat what someone has said to them, rather than replying in a meaningful way. Some children with autism may have above-average language skills, but often they do not use this ability to have conversations with others around them.

What Are Some Other Signs of Autism?

Children with autism often behave in unusual ways. Their activities are limited, and they may become very upset if there is some change in their environment or daily routine. For example, some may have temper tantrums if a piece of furniture in their room is moved or if they are put at a different place at the dinner table.

Characteristic behavior may include repetitive motor acts such as arm flapping, finger twisting, rocking, and walking on tiptoes. Some of these motions may be repeated for hours on end. Children with autism may also exhibit hyperactivity, fits of screaming, or self-injury, such as head banging. Often, children with autism fear harmless objects, such as a vacuum cleaner, but fail to perceive real dangers, such as crossing a busy highway. They may also be oversensitive to noises, lights, and odors, and they may dislike being touched. Many children with autism also have mental retardation*. About one in four people with autism may develop seizures* by the time they reach their teens.

* mental retardation
is a condition in which people have below average intelligence that limits their ability to function normally.
* seizures
(SEE-zhurz) are storms in the brain that occur when the electrical patterns of the brain are interrupted by powerful, rapid bursts of electrical energy. This may cause a person to fall down, make jerky movements, or stare blankly into space.

How Common Is Autism?

Autism occurs worldwide in all cultures. The prevalence is usually said to be 2 to 5 per 10,000 people. However, it may affect as many as 20 per 10,000 (or 1 in 500) if Asperger disorder* and other pervasive development disorders are included. Prevalence estimates have tended to increase along with increased public awareness of autism and Asperger disorder. Rates of autism are 3 to 4 times higher in boys than in girls.

* Asperger disorder
is a pervasive developmental disorder. Like autism, Asperger disorder is a developmental condition in which a child does not learn to communicate and interact socially with others in a typical way. Children with Asperger disorder have normal intelligence and generally good language development.

What Causes Autism?

Autism is not transmitted from one person to another like a cold, so it is impossible to catch it from someone else. However, no one knows what causes autism. While we now know this is not true, until the 1970s, autism was thought to be the result of a poor mother-child relationship in infancy. Since then, researchers have come to believe that autism is caused by abnormal development of the brain before birth. However, scientists do not yet know the exact nature of the abnormality.

Some studies have suggested that autism may result from defects in the action of brain neurotransmitters*. Other studies have indicated that brain cells and their connecting fibers may not grow properly in infants who develop autism. It is likely, however, that genes* have some role in causing autism. Parents who have one child with autism are more likely to have other children who develop the disorder (when compared to families who do not have children with autism). Identical twins (who share the same genes) have a high rate of concordance. In other words, if one twin has a condition, the other will likely have it too. If there is an autistic child in the family there is a higher rate of other developmental problems like language and learning disabilities in siblings. Also, autism is more common among people with the chromosomal disorder known as fragile X syndrome*.

* neurotransmitters
(NUR-o-tranzmit-erz) are brain chemicals that let brain cells communicate with each other and therefore allow the brain to function normally.
* genes are chemicals
in the body that help determine a persons characteristics, such as hair or eye color. They are inherited from a persons parents and are contained in the chromosomes found in the cells of the body.
* fragile X syndrome
is a disorder associated with a faulty X chromosome (a chromosome is a structure inside the bodys cells that contains DNA, which is the genetic material that helps determine characteristics such as hair and eye color; females have two X chromosomes whereas males have only one). Fragile X syndrome is associated with mental retardation, especially in males.

How Is Autism Diagnosed and Treated?

There is no specific test for autism. Parents may first suspect that something is wrong if the child does not respond to them and dislikes cuddling or being held. Physicians need to rule out other disorders that have similar symptoms, such as deafness or mental retardation. To diagnose autism, doctors and psychologists* ask parents about the childs early development and observe how the child behaves, communicates, and relates to others.

* psychologists
(sy-KOL-uh-jists) are mental health professionals who have specialized training in the diagnosis and treatment of emotional and behavioral conditions. Psychologists administer special tests to help them arrive at a diagnosis. Psychologists, like other mental health experts, also provide counseling services.

Treatment is most effective when it is begun at an early age. Educational treatment is often intense, time-consuming, and very individualized in order to take into account the highly varied skills as well as disabilities present in children with autism. Behavioral treatments use rewards to establish new skills. Developing a communication system is key to treating autistic behavior. Special education programs tailored to the childs individual needs teach ways to better communicate and interact with others. For children with mild autism, educators reinforce existing skills and interests and build on them. Basic living skills, such as personal cleanliness and crossing the street, are also taught. Medications can decrease seizures, if present, and ease anxiety* and repetitive behaviors.

* anxiety
(ang-ZY-e-tee) can be experienced as a troubled feeling, a sense of dread, fear of the future, or distress over a possible threat to a persons physical or mental well-being.

The Oscar-winning film Rain Man (1988) tells the story of the relationship between two brothers, one of whom is autistic. Charlie (Tom Cruise, left), a selfish car salesman, sets out to find who his father left his fortune to after his father dies. His search leads him to discover that he has a long-lost older brother, Raymond (Dustin Hoffman), who is autistic and has been living in a mental institution. Photofest

Living with Autism

Autism is not outgrown, and a child with the disorder usually will still be affected by it to some degree when he or she has grown up. With special education and communication training, many people with autism can learn to lead a more nearly normal life. Some with milder autism may even finish high school and go on to college. Many, however, will not be able to live and work independently and will always need special care.

See also

Asperger Disorder

Birth Defects and Brain Development

Mental Retardation

Resources

Books

Janzen, Janice E. Autism: Facts and Strategies for Parents. San Diego: Academic Press, 2000.

Grandin, Temple. Thinking in Pictures, and Other Reports from My Life with Autism. New York: Random House, 1996.

Maurice, Catherine. Let Me Hear Your Voice: A Familys Triumph over Autism. New York: Random House, 1994.

Seroussi, Karyn. Unraveling the Mystery of Autism and Pervasive Developmental Disorder: A Mothers Story of Research and Recovery. New York: Simon and Schuster, 2000.

Organizations

Autism Society of America, 7910 Woodmont Avenue, Suite 300, Bethesda, MD 20814-3067. Telephone 800-3AUTISM http://www.autism-society.org

KidsHealth.org from the Nemours Foundation posts articles about autism at its website. http://kidshealth.org/kid/health_problems/brain/autism.html http://kidshealth.org/teen/health_problems/diseases/autism.html

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