Autism

Course Objectives

1.  Describe the criteria necessary for diagnosing autism.

2.  Identify the causes of Autism.

3.  Describe the medications used to treat Autism.

4   Identify co-occurring disorders that accompany Autism.

5.  Describe the social skills and behaviors of autistic individuals.

CEUs Credits Hours (Units): 2

Autism - Isolated in worlds of their own, people with autism appear indifferent and remote and are unable to form emotional bonds with others. Although people with this baffling brain disorder can display a wide range of symptoms and disability, many are incapable of understanding other people's thoughts, feelings, and needs. Often, language and intelligence fail to develop fully, making communication and social relationships difficult. Many people with autism engage in repetitive activities, like rocking or banging their heads, or rigidly following familiar patterns in their everyday routines. Some are painfully sensitive to sound, touch, sight, or smell.

Children with autism do not follow the typical patterns of child development. In some children, hints of future problems may be apparent from birth. In most cases, the problems become more noticeable as the child slips farther behind other children the same age. Other children start off well enough. But between 18 and 36 months old, they suddenly reject people, act strangely, and lose language and social skills they had already acquired.

But there is help-and hope. Gone are the days when people with autism were isolated, typically sent away to institutions. Today, many youngsters can be helped to attend school with other children. Methods are available to help improve their social, language, and academic skills. Even though more than 60 percent of adults with autism continue to need care throughout their lives, some programs are beginning to demonstrate that with appropriate support, many people with autism can be trained to do meaningful work and participate in the life of the community.

Autism is found in every country and region of the world, and in families of all racial, ethnic, religious, and economic backgrounds. Emerging in childhood, it affects about 1 or 2 people in every thousand and is three to four times more common in boys than girls. Girls with the disorder, however, tend to have more severe symptoms and lower intelligence. In addition to loss of personal potential, the cost of health and educational services to those affected exceeds $3 billion each year. So, at some level, autism affects us all.

What is Autism?

Autism is a brain disorder that typically affects a person's ability to communicate, form relationships with others, and respond appropriately to the environment. Some people with autism are relatively high-functioning, with speech and intelligence intact. Others are mentally retarded, mute, or have serious language delays. For some, autism makes them seem closed off and shut down; others seem locked into repetitive behaviors and rigid patterns of thinking.   Although people with autism do not have exactly the same symptoms and deficits, they tend to share certain social, communication, motor, and sensory problems that affect their behavior in predictable ways.

Difference in the Behaviors of Infants With and Without Autism

 

 

Infants with Autism

Normal Infants

Communication

  • Avoid eye contact
  • Seem deaf
  • Start developing language, then abruptly stop talking altogether
  • Study mother's face
  • Easily stimulated by sounds
  • Keep adding to vocabulary and expanding grammatical usage
  • Social relationships
  • Act as if unaware of the coming and going of others
  • Physically attack and injure others without provocation
  • Inaccessible, as if in a shell
  • Cry when mother leaves the room and are anxious with strangers
  • Get upset when hungry or frustrated
  • Recognize familiar faces and smile
  • Exploration of environment
  • Remain fixated on a single item or activity
  • Practice strange actions like rocking or hand-flapping
  • Sniff or lick toys
  • Show no sensitivity to burns or bruises, and engage in self-mutilation, such as eye gouging
  • Move from one engrossing object or activity to another
  • Use body purposefully to reach or acquire objects
  • Explore and play with toys
  • Seek pleasure and avoid pain

Social symptoms

From the start, most infants are social beings. Early in life, they gaze at people, turn toward voices, endearingly grasp a finger, and even smile.  In contrast, most children with autism seem to have tremendous difficulty learning to engage in the give-and-take of everyday human interaction. Even in the first few months of life, many do not interact and they avoid eye contact. They seem to prefer being alone. They may resist attention and affection or passively accept hugs and cuddling. Later, they seldom seek comfort or respond to anger or affection. Unlike other children, they rarely become upset when the parent leaves or show pleasure when the parent returns. Parents who looked forward to the joys of cuddling, teaching, and playing with their child may feel crushed by this lack of response.

Children with autism also take longer to learn to interpret what others are thinking and feeling. Subtle social cues-whether a smile, a wink, or a grimace-may have little meaning. To a child who misses these cues, "Come here," always means the same thing, whether the speaker is smiling and extending her arms for a hug or squinting and planting her fists on her hips. Without the ability to interpret gestures and facial expressions, the social world may seem bewildering.  To compound the problem, people with autism have problems seeing things from another person's perspective. Most 5-year-olds understand that other people have different information, feelings, and goals than they have. A person with autism may lack such understanding. This inability leaves them unable to predict or understand other people's actions.

Some people with autism also tend to be physically aggressive at times, making social relationships still more difficult. Some lose control, particularly when they're in a strange or overwhelming environment, or when angry and frustrated. They are capable at times of breaking things, attacking others, or harming themselves. Alan, for example, may fall into a rage, biting and kicking when he is frustrated or angry. Paul, when tense or overwhelmed, may break a window or throw things. Others are self-destructive, banging their heads, pulling their hair, or biting their arms.

Language difficulties

By age 3, most children have passed several predictable milestones on the path to learning language. One of the earliest is babbling. By the first birthday, a typical toddler says words, turns when he hears his name, points when he wants a toy, and when offered something distasteful, makes it very clear that his answer is no. By age 2, most children begin to put together sentences like "See doggie," or "More cookie," and can follow simple directions.  Research shows that about half of the children diagnosed with autism remain mute throughout their lives. Some infants who later show signs of autism do coo and babble during the first 6 months of life. But they soon stop. Although they may learn to communicate using sign language or special electronic equipment, they may never speak. Others may be delayed, developing language as late as age 5 to 8.

Those who do speak often use language in unusual ways. Some seem unable to combine words into meaningful sentences. Some speak only single words. Others repeat the same phrase no matter what the situation.  Some children with autism are only able to parrot what they hear, a condition called echolalia. Without persistent training, echoing other people's phrases may be the only language that people with autism ever acquire. What they repeat might be a question they were just asked, or an advertisement on television. Or out of the blue, a child may shout, "Stay on your own side of the road!"-something he heard his father say weeks before. Although children without autism go through a stage where they repeat what they hear, it normally passes by the time they are.

People with autism also tend to confuse pronouns. They fail to grasp that words like "my," "I," and "you," change meaning depending on who is speaking. When Alan's teacher asks, "What is my name?" he answers, "My name is Alan."  Some children say the same phrase in a variety of different situations. One child, for example, says "Get in the car," at random times throughout the day. While on the surface, her statement seems bizarre, there may be a meaningful pattern in what the child says. The child may be saying, "Get in the car," whenever she wants to go outdoors. In her own mind, she's associated "Get in the car," with leaving the house. Another child, who says "Milk and cookies" whenever he is pleased, may be associating his good feelings around this treat with other things that give him pleasure.

It can be equally difficult to understand the body language of a person with autism. Most of us smile when we talk about things we enjoy, or shrug when we can't answer a question. But for children with autism, facial expressions, movements, and gestures rarely match what they are saying. Their tone of voice also fails to reflect their feelings. A high-pitched, sing-song, or flat, robot-like voice is common. Without meaningful gestures or the language to ask for things, people with autism are at a loss to let others know what they need. As a result, children with autism may simply scream or grab what they want. Temple Grandin, an exceptional woman with autism who has written two books about her disorder, admits, "Not being able to speak was utter frustration. Screaming was the only way I could communicate." Often she would logically think to herself, "I am going to scream now because I want to tell somebody I don't want to do something." Until they are taught better means of expressing their needs, people with autism do whatever they can to get through to others.

Repetitive behaviors and obsessions

Although children with autism usually appear physically normal and have good muscle control, odd repetitive motions may set them off from other children. A child might spend hours repeatedly flicking or flapping her fingers or rocking back and forth. Many flail their arms or walk on their toes. Some suddenly freeze in position. Experts call such behaviors stereotypes or self-stimulation.  Some people with autism also tend to repeat certain actions over and over. A child might spend hours lining up pretzel sticks. Or, like Alan, run from room to room turning lights on and off.  Some children with autism develop troublesome fixations with specific objects, which can lead to unhealthy or dangerous behaviors. For example, one child insists on carrying feces from the bathroom into her classroom. Other behaviors are simply startling, humorous, or embarrassing to those around them. One girl, obsessed with digital watches, grabs the arms of strangers to look at their wrists.

For unexplained reasons, people with autism demand consistency in their environment. Many insist on eating the same foods, at the same time, sitting at precisely the same place at the table every day. They may get furious if a picture is tilted on the wall, or wildly upset if their toothbrush has been moved even slightly. A minor change in their routine, like taking a different route to school, may be tremendously upsetting.  Scientists are exploring several possible explanations for such repetitive, obsessive behavior. Perhaps the order and sameness lends some stability in a world of sensory confusion. Perhaps focused behaviors help them to block out painful stimuli. Yet another theory is that these behaviors are linked to the senses that work well or poorly. A child who sniffs everything in sight may be using a stable sense of smell to explore his environment. Or perhaps the reverse is true: he may be trying to stimulate a sense that is dim.  Imaginative play, too, is limited by these repetitive behaviors and obsessions. Most children, as early as age 2, use their imagination to pretend. They create new uses for an object, perhaps using a bowl for a hat. Or they pretend to be someone else, like a mother cooking dinner for her "family" of dolls. In contrast, children with autism rarely pretend. Rather than rocking a doll or rolling a toy car, they may simply hold it, smell it, or spin it for hours on end.

Sensory symptoms

When children's perceptions are accurate, they can learn from what they see, feel, or hear. On the other hand, if sensory information is faulty or if the input from the various senses fails to merge into a coherent picture, the child's experiences of the world can be confusing. People with autism seem to have one or both of these problems. There may be problems in the sensory signals that reach the brain or in the integration of the sensory signals-and quite possibly, both.  Apparently, as a result of a brain malfunction, many children with autism are highly attuned or even painfully sensitive to certain sounds, textures, tastes, and smells. Some children find the feel of clothes touching their skin so disturbing that they can't focus on anything else. For others, a gentle hug may be overwhelming. Some children cover their ears and scream at the sound of a vacuum cleaner, a distant airplane, a telephone ring, or even the wind. Temple Grandin says, "It was like having a hearing aid that picks up everything, with the volume control stuck on super loud." Because any noise was so painful, she often chose to withdraw and tuned out sounds to the point of seeming deaf.

In autism, the brain also seems unable to balance the senses appropriately. Some children with autism seem oblivious to extreme cold or pain, but react hysterically to things that wouldn't bother other children. A child with autism may break her arm in a fall and never cry. Another child might bash his head on the wall without a wince. On the other hand, a light touch may make the child scream with alarm.  In some people, the senses are even scrambled. One child gags when she feels a certain texture. A man with autism hears a sound when someone touches a point on his chin. Another experiences certain sounds as colors.

Unusual abilities

Some people with autism display remarkable abilities. A few demonstrate skills far out of the ordinary. At a young age, when other children are drawing straight lines and scribbling, some children with autism are able to draw detailed, realistic pictures in three-dimensional perspective. Some toddlers who are autistic are so visually skilled that they can put complex jigsaw puzzles together. Many begin to read exceptionally early-sometimes even before they begin to speak. Some who have a keenly developed sense of hearing can play musical instruments they have never been taught, play a song accurately after hearing it once, or name any note they hear. Like the person played by Dustin Hoffman in the movie Rain Man, some people with autism can memorize entire television shows, pages of the phone book or the scores of every major league baseball game for the past 20 years. However, such skills, known as islets of intelligence or savant skills are rare.

How is Autism Diagnosed?

Parents are usually the first to notice unusual behaviors in their child. In many cases, their baby seemed "different" from birth-being unresponsive to people and toys, or focusing intently on one item for long periods of time. The first signs of autism may also appear in children who had been developing normally. When an affectionate, babbling toddler suddenly becomes silent, withdrawn, violent, or self-abusive, something is wrong.  Even so, years may go by before the family seeks a diagnosis. Well-meaning friends and relatives sometimes help parents ignore the problems with reassurances that "Every child is different," or "Janie can talk-she just doesn't want to!" Unfortunately, this only delays getting appropriate assessment and treatment for the child.

Indicators of Normal Development

Age

Skills or Abilities
Awareness and Thinking

Communication

Movement

Social

Self-help

 

 

birth-
3 months

Responds to new sounds
Follows movement of hands
  with eyes
Looks at object and people

Coos and makes sounds
Smiles at mother's voice

Waves hands and feet
Grasps objects
Watches movement of
  own hands

Enjoys being tickled and
  held
Makes brief eye contact
  during feeding

Opens mouth to bottle or
  breast and sucks

 

 

3-6 months

Recognizes mother
Reaches for things

Turns head to sounds and
  voices
Begins babbling
Imitates sounds
Varies cry

Lifts head and chest
Bangs objects in play

Notices strangers and new
 places
Expresses pleasure or
 displeasure
Likes physical play

Eats baby food from spoon
Reaches for and holds
  bottle

 

 

6-9 months

Imitates simple gestures
Responds to name

Makes nonsense syllables
  like gaga
Uses voice to get attention

Crawls
Stands by holding on to things
Claps hands
Moves objects from one
  hand to the other

Plays peek-a-boo
Enjoys other children
Understands social signals like
  smiles or harsh tones

Chews
Drink from a cup with help

 

 

9-12 months

Plays simple games
Moves to reach desired objects
Looks at pictures in books

Waves bye-bye
Stops when told "no"
Imitates new words

Walks holding on to furniture
Deliberately lets go of an object
Makes markets with a pencil or
  crayon

Laughs aloud during play
Shows preference for one toy
  over another
Responds to adult's change in
  mood

Feeds self with fingers
Drinks from cup

 

 

12-18 months

Imitates unfamiliar sounds
  and gestures
Points to a desired object

Shakes head to mean "no"
Begins using words
Follows simple commands

Creeps upstairs and downstairs
Walks alone
Stacks blocks

Repeats a performance
  laughed at
Shows emotions like fear or
  anger
Returns a kiss or hug

Moves to help in dressing
Indicates wet diaper

 

 

18-24 months

Identifies parts of own body
Attends to nursery rhymes
Points to pictures in books

Uses two words to describe
  actions
Refers to self by name

Jumps in place
Pushes and pulls objects
Turns pages of book one
  by one
Uses fingers and thumb

Cries a bit when parents leave
Becomes easily frustrated
Pays attention to other
  children

Zips
Removes clothes without
  help
Unwraps things

 

 

24-36 months

Matches shapes and objects
Enjoys picture books
Recognizes self in mirror
Counts to ten

Joins in songs and rhythm
Uses three-word phrases
Uses simple pronouns
Follows two instructions at
  a time

Kicks and throws ball
Runs and jumps
Draws straight lines
Strings beads

Pretends and plays make
  believe
Avoids dangerous situations
Initiates play
Attempts to take turns

Feeds self with spoon
Uses toilet with some help

Diagnostic procedures

To date, there are no medical tests like x-rays or blood tests that detect autism. And no two children with the disorder behave the same way. In addition, several conditions can cause symptoms that resemble those of autism. So parents and the child's pediatrician need to rule out other disorders, including hearing loss, speech problems, mental retardation, and neurological problems. But once these possibilities have been eliminated, a visit to a professional who specializes in autism is necessary. Such specialists include people with the professional titles of child psychiatrist, child psychologist, developmental pediatrician, or pediatric neurologist.

Autism specialists use a variety of methods to identify the disorder. 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.  Specialists may also consider other conditions that produce many of the same behaviors and symptoms as autism, such as Rett's Disorder or Asperger's Disorder. Rett's Disorder is a progressive brain disease that only affects girls but, like autism, produces repetitive hand movements and leads to loss of language and social skills. Children with Asperger's Disorder are very like high-functioning children with autism. Although they have repetitive behaviors, severe social problems, and clumsy movements, their language and intelligence are usually intact. Unlike autism, the symptoms of Asperger's Disorder typically appear later in childhood.

Diagnostic criteria

After assessing observations and test results, the specialist makes a diagnosis of autism only if there is clear evidence of:

  •   poor or limited social relationships
  •   underdeveloped communication skills
  •   repetitive behaviors, interests, and activities.

People with autism generally have some impairment within each category, although the severity of each symptom may vary. The diagnostic criteria also require that these symptoms appear by age 3.  However, some specialists are reluctant to give a diagnosis of autism. They fear that it will cause parents to lose hope. As a result, they may apply a more general term that simply describes the child's behaviors or sensory deficits. "Severe communication disorder with autism-like behaviors," "multi-sensory system disorder," and "sensory integration dysfunction" are some of the terms that are used. Children with milder or fewer symptoms are often diagnosed as having Pervasive Developmental Disorder (PDD).  Although terms like Asperger's Disorder and PDD do not significantly change treatment options, they may keep the child from receiving the full range of specialized educational services available to children diagnosed with autism. They may also give parents false hope that their child's problems are only temporary.

What Causes Autism?

It is generally accepted that autism is caused by abnormalities in brain structures or functions. Using a variety of new research tools to study human and animal brain growth, scientists are discovering more about normal development and how abnormalities occur.  The brain of a fetus develops throughout pregnancy. Starting out with a few cells, the cells grow and divide until the brain contains billions of specialized cells, called neurons. Research sponsored by NIMH and other components at the National Institutes of Health is playing a key role in showing how cells find their way to a specific area of the brain and take on special functions. Once in place, each neuron sends out long fibers that connect with other neurons. In this way, lines of communication are established between various areas of the brain and between the brain and the rest of the body. As each neuron receives a signal it releases chemicals called neurotransmitters, which pass the signal to the next neuron. By birth, the brain has evolved into a complex organ with several distinct regions and sub regions, each with a precise set of functions and responsibilities.

Different parts of the brain have different functions

  • The hippocampus makes it possible to recall recent experience and new information
  • The amygdala directs our emotional responses
  • The frontal lobes of the cerebrum allow us to solve problems, plan ahead, understand the behavior of others, and restrain our impulses
  • The parietal areas control hearing, speech, and language
  • The cerebellum regulates balance, body movements, coordination, and the muscles used in speaking
  • The corpus callossum passes information from one side of the brain to the other

But brain development does not stop at birth. The brain continues to change during the first few years of life, as new neurotransmitters become activated and additional lines of communication are established. Neural networks are forming and creating a foundation for processing language, emotions, and thought.  However, scientists now know that a number of problems may interfere with normal brain development. Cells may migrate to the wrong place in the brain. Or, due to problems with the neural pathways or the neurotransmitters, some parts of the communication network may fail to perform. A problem with the communication network may interfere with the overall task of coordinating sensory information, thoughts, feelings, and actions.

Researchers supported by NIMH and other NIH Institutes are scrutinizing the structures and functions of the brain for clues as to how a brain with autism differs from the normal brain. In one line of study, researchers are investigating potential defects that occur during initial brain development. Other researchers are looking for defects in the brains of people already known to have autism.  Scientists are also looking for abnormalities in the brain structures that make up the limbic system. Inside the limbic system, an area called the amygdala is known to help regulate aspects of social and emotional behavior. One study of high-functioning children with autism found that the amygdala was indeed impaired but that another area of the brain, the hippocampus, was not. In another study, scientists followed the development of monkeys whose amygdala was disrupted at birth. Like children with autism, as the monkeys grew, they became increasingly withdrawn and avoided social contact.

Differences in neurotransmitters, the chemical messengers of the nervous system, are also being explored. For example, high levels of the neurotransmitter serotonin have been found in a number of people with autism. Since neurotransmitters are responsible for passing nerve impulses in the brain and nervous system, it is possible that they are involved in the distortion of sensations that accompanies autism.  NIMH grantees are also exploring differences in overall brain function, using a technology called magnetic resonance imaging (MRI) to identify which parts of the brain are energized during specific mental tasks. In a study of adolescent boys, NIMH researchers observed that during problem-solving and language tasks, teenagers with autism were not only less successful than peers without autism, but the MRI images of their brains showed less activity. In a study of younger children, researchers observed low levels of activity in the parietal areas and the corpus callosum. Such research may help scientists determine whether autism reflects a problem with specific areas of the brain or with the transmission of signals from one part of the brain to another.

Each of these differences has been seen in some but not all the people with autism who were tested. What could this mean? Perhaps the term autism actually covers several different disorders, each caused by a different problem in the brain. Or perhaps the various brain differences are themselves caused by a single underlying disorder that scientists have not yet identified. Discovering the physical basis of autism should someday allow us to better identify, treat, and possibly prevent it.

Factors affecting brain development

But what causes normal brain development to go awry? Some NIMH researchers are investigating genetic causes-the role that heredity and genes play in passing the disorder from one generation to the next. Others are looking at medical problems related to pregnancy and other factors.

Heredity. Several studies of twins suggest that autism- or at least a higher likelihood of some brain dysfunction-can be inherited. For example, identical twins are far more likely than fraternal twins to both have autism. Unlike fraternal twins, which develop from two separate eggs, identical twins develop from a single egg and have the same genetic makeup.  It appears that parents who have one child with autism are at slightly increased risk for having more than one child with autism. This also suggests a genetic link. However, autism does not appear to be due to one particular gene. If autism, like eye color, were passed along by a single gene, more family members would inherit the disorder. NIMH grantees, using state-of-the-art gene splicing techniques, are searching for irregular segments of genetic code that the autistic members of a family may have inherited.

Some scientists believe that what is inherited is an irregular segment of genetic code or a small cluster of three to six unstable genes. In most people, the faulty code may cause only minor problems. But under certain conditions, the unstable genes may interact and seriously interfere with the brain development of the unborn child.  A body of NIMH-sponsored research is testing this theory. One study is exploring whether parents and siblings who do not have autism show minor symptoms, such as mild social, language, or reading problems. If so, such findings would suggest that several members of a family can inherit the irregular or unstable genes, but that other as yet unidentified conditions must be present for the full-blown disorder to develop.

Pregnancy and other problems. Throughout pregnancy, the fetal brain is growing larger and more complex, as new cells, specialized regions, and communication networks form. During this time, anything that disrupts normal brain development may have lifelong effects on the child's sensory, language, social, and mental functioning.  For this reason, researchers are exploring whether certain conditions, like the mother's health during pregnancy, problems during delivery, or other environmental factors may interfere with normal brain development. Viral infections like rubella (also called German measles), particularly in the first three months of pregnancy, may lead to a variety of problems, possibly including autism and retardation. Lack of oxygen to the baby and other complications of delivery may also increase the risk of autism. However, there is no clear link. Such problems occur in the delivery of many infants who are not autistic, and most children with autism are born without such factors.

Are There Accompanying Disorders?

Several disorders commonly accompany autism. To some extent, these may be caused by a common underlying problem in brain functioning.

Mental retardation

Of the problems that can occur with autism, mental retardation is the most widespread. Seventy-five to 80 percent of people with autism are mentally retarded to some extent. Fifteen to 20 percent are considered severely retarded, with IQs below 35. (A score of 100 represents average intelligence.) But autism does not necessarily correspond with mental impairment. More than 10 percent of people with autism have an average or above average IQ. A few show exceptional intelligence.

Interpreting IQ scores is difficult, however, because most intelligence tests are not designed for people with autism. People with autism do not perceive or relate to their environment in typical ways. When tested, some areas of ability are normal or even above average, and some areas may be especially weak. For example, a child with autism may do extremely well on the parts of the test that measure visual skills but earn low scores on the language subtests.

Seizures

About one-third of the children with autism develop seizures, starting either in early childhood or adolescence. Researchers are trying to learn if there is any significance to the time of onset, since the seizures often first appear when certain neurotransmitters become active.

Since seizures range from brief blackouts to full-blown body convulsions, an electroencephalogram (EEG) can help confirm their presence. Fortunately, in most cases, seizures can be controlled with medication.

Fragile X

One disorder, Fragile X syndrome, has been found in about 10 percent of people with autism, mostly males. This inherited disorder is named for a defective piece of the X-chromosome that appears pinched and fragile when seen under a microscope.  People who inherit this faulty bit of genetic code are more likely to have mental retardation and many of the same symptoms as autism along with unusual physical features that are not typical of autism.

Tuberous Sclerosis

There is also some relationship between autism and Tuberous Sclerosis, a genetic condition that causes abnormal tissue growth in the brain and problems in other organs. Although Tuberous Sclerosis is a rare disorder, occurring less than once in 10,000 births, about a fourth of those affected are also autistic.  Scientists are exploring genetic conditions such as Fragile X and Tuberous Sclerosis to see why they so often coincide with autism. Understanding exactly how these conditions disrupt normal brain development may provide insights to the biological and genetic mechanisms of autism.

Is There Reason for Hope?

When parents learn that their child is autistic, most wish they could magically make the problem go away. They looked forward to having a baby and watching their child learn and grow. Instead, they must face the fact that they have a child who may not live up to their dreams and will daily challenge their patience. Some families deny the problem or fantasize about an instant cure. They may take the child from one specialist to another, hoping for a different diagnosis. It is important for the family to eventually overcome their pain and deal with the problem, while still cherishing hopes for their child's future. Most families realize that their lives can move on.

Today, more than ever before, people with autism can be helped. A combination of early intervention, special education, family support, and in some cases, medication, is helping increasing numbers of children with autism to live more normal lives. Special interventions and education programs can expand their capacity to learn, communicate, and relate to others, while reducing the severity and frequency of disruptive behaviors. Medications can be used to help alleviate certain symptoms. Older children and adults like Paul may also benefit from the treatments that are available today. So, while no cure is in sight, it is possible to greatly improve the day-to-day life of children and adults with autism.

Today, a child who receives effective therapy and education has every hope of using his or her unique capacity to learn. Even some who are seriously mentally retarded can often master many self-help skills like cooking, dressing, doing laundry, and handling money. For such children, greater independence and self-care may be the primary training goals. Other youngsters may go on to learn basic academic skills, like reading, writing, and simple math. Many complete high school. Some, like Temple Grandin, may even earn college degrees. Like anyone else, their personal interests provide strong incentives to learn. Clearly, an important factor in developing a child's long-term potential for independence and success is early intervention. The sooner a child begins to receive help, the more opportunity for learning. Furthermore, because a young child's brain is still forming, scientists believe that early intervention gives children the best chance of developing their full potential. Even so, no matter when the child is diagnosed, it's never too late to begin treatment.

Can Social Skills and Behavior Be Improved?

A number of treatment approaches have evolved in the decades since autism was first identified. Some therapeutic programs focus on developing skills and replacing dysfunctional behaviors with more appropriate ones. Others focus on creating a stimulating learning environment tailored to the unique needs of children with autism.  Researchers have begun to identify factors that make certain treatment programs more effective in reducing- or reversing-the limitations imposed by autism. Treatment programs that build on the child's interests, offer a predictable schedule, teach tasks as a series of simple steps, actively engage the child's attention in highly structured activities, and provide regular reinforcement of behavior, seem to produce the greatest gains.

Parent involvement has also emerged as a major factor in treatment success. Parents work with teachers and therapists to identify the behaviors to be changed and the skills to be taught. Recognizing that parents are the child's earliest teachers, more programs are beginning to train parents to continue the therapy at home. Research is beginning to suggest that mothers and fathers who are trained to work with their child can be as effective as professional teachers and therapists.

Developmental approaches

Professionals have found that many children with autism learn best in an environment that builds on their skills and interests while accommodating their special needs. Programs employing a developmental approach provide consistency and structure along with appropriate levels of stimulation. For example, a predictable schedule of activities each day helps children with autism plan and organize their experiences. Using a certain area of the classroom for each activity helps students know what they are expected to do. For those with sensory problems, activities that sensitize or desensitize the child to certain kinds of stimulation may be especially helpful.

In one developmental preschool classroom, a typical session starts with a physical activity to help develop balance, coordination, and body awareness. Children string beads, piece puzzles together, paint and participate in other structured activities. At snack time, the teacher encourages social interaction and models how to use language to ask for more juice. Later, the teacher stimulates creative play by prompting the children to pretend being a train. As in any classroom, the children learn by doing.  Although higher-functioning children may be able to handle academic work, they too need help to organize the task and avoid distractions. A student with autism might be assigned the same addition problems as her classmates. But instead of assigning several pages in the textbook, the teacher might give her one page at a time or make a list of specific tasks to be checked off as each is done.

Behaviorist approaches

When people are rewarded for a certain behavior, they are more likely to repeat or continue that behavior. Behaviorist training approaches are based on this principle. When children with autism are rewarded each time they attempt or perform a new skill, they are likely to perform it more often. With enough practice, they eventually acquire the skill. For example, a child who is rewarded whenever she looks at the therapist may gradually learn to make eye contact on her own.

Dr. O. Ivar Lovaas pioneered the use of behaviorist methods for children with autism more than 25 years ago. His methods involve time-intensive, highly structured, repetitive sequences in which a child is given a command and rewarded each time he responds correctly. For example, in teaching a young boy to sit still, a therapist might place him in front of chair and tell him to sit. If the child doesn't respond, the therapist nudges him into the chair. Once seated, the child is immediately rewarded in some way. A reward might be a bit of chocolate, a sip of juice, a hug, or applause-whatever the child enjoys. The process is repeated many times over a period of up to two hours. Eventually, the child begins to respond without being nudged and sits for longer periods of time. Learning to sit still and follow directions then provides a foundation for learning more complex behaviors. Using this approach for up to 40 hours a week, some children may be brought to the point of near-normal behavior. Others are much less responsive to the treatment.

However, some researchers and therapists believe that less intensive treatments, particularly those begun early in a child's life, may be more efficient and just as effective. So, over the years, researchers sponsored by NIMH and other agencies have continued to study and modify the behaviorist approach. Today, some of these behaviorist treatment programs are more individualized and built around the child's own interests and capabilities. Many programs also involve parents or other non-autistic children in teaching the child. Instruction is no longer limited to a controlled environment, but takes place in natural, everyday settings. Thus, a trip to the supermarket may be an opportunity to practice using words for size and shape. Although rewarding desired behavior is still a key element, the rewards are varied and appropriate to the situation. A child who makes eye contact may be rewarded with a smile, rather than candy. NIMH is funding several types of behaviorist treatment approaches to help determine the best time for treatment to start, the optimum treatment intensity and duration, and the most effective methods to reach both high- and low-functioning children.

Nonstandard approaches

In trying to do everything possible to help their children, many parents are quick to try new treatments. Some treatments are developed by reputable therapists or by parents of a child with autism, yet when tested scientifically, cannot be proven to help. Before spending time and money and possibly slowing their child's progress, the family should talk with experts and evaluate the findings of objective reviewers. Following are some of the approaches that have not been shown to be effective in treating the majority of children with autism:

  • Facilitated Communication, which assumes that by supporting a nonverbal child's arms and fingers so that he can type on a keyboard, the child will be able to type out his inner thoughts. Several scientific studies have shown that the typed messages actually reflect the thoughts of the person providing the support.
  • Holding Therapy, in which the parent hugs the child for long periods of time, even if the child resists. Those who use this technique contend that it forges a bond between the parent and child. Some claim that it helps stimulate parts of the brain as the child senses the boundaries of her own body. There is no scientific evidence, however, to support these claims.
  • Auditory Integration Training, in which the child listens to a variety of sounds with the goal of improving language comprehension. Advocates of this method suggest that it helps people with autism receive more balanced sensory input from their environment. When tested using scientific procedures, the method was shown to be no more effective than listening to music.
  • Dolman/Delcato Method, in which people are made to crawl and move as they did at each stage of early development, in an attempt to learn missing skills. Again, no scientific studies support the effectiveness of the method.

It is critical that parents obtain reliable, objective information before enrolling their child in any treatment program. Programs that are not based on sound principles and tested through solid research can do more harm than good. They may frustrate the child and cause the family to lose money, time, and hope.

What Medications are Available?

No medication can correct the brain structures or impaired nerve connections that seem to underlie autism. Scientists have found, however, that drugs developed to treat other disorders with similar symptoms are sometimes effective in treating the symptoms and behaviors that make it hard for people with autism to function at home, school, or work. It is important to note that none of the medications described in this section has been approved for autism by the Food and Drug Administration (FDA). The FDA is the Federal agency that authorizes the use of drugs for specific disorders.

Medications used to treat anxiety and depression are being explored as a way to relieve certain symptoms of autism. These drugs include fluoxetine (Prozac™), fluvoxamine (Luvox™), sertraline (Zoloft™), and clomipramine (Anafranil™). Some scientists believe that autism and these disorders may share a problem in the functioning of the neurotransmitter serotonin, which these medications apparently help.  One study found that about 60 percent of patients with autism who used fluoxetine became less distraught and aggressive. They became calmer and better able to handle changes in their routine or environment. However, fenfluramine, another medication that affects serotonin levels, has not proven to be helpful.

People with an anxiety disorder called obsessive-compulsive disorder (OCD), like people with autism, are plagued by repetitive actions they can't control. Based on the premise that the two disorders may be related, one NIMH research study found that clomipramine, a medication used to treat OCD, does appear to be effective in reducing obsessive, repetitive behavior in some people with autism. Children with autism who were given the medication also seemed less withdrawn, angry, and anxious. But more research needs to be done to see if the findings of this study can be repeated.  Some children with autism experience hyperactivity, the frenzied activity that is seen in people with attention deficit hyperactivity disorder (ADHD). Since stimulant drugs like Ritalin™ are helpful in treating many people with ADHD, doctors have tried them to reduce the hyperactivity sometimes seen in autism. The drugs seem to be most effective when given to higher-functioning children with autism who do not have seizures or other neurological problems.

Because many children with autism have sensory disturbances and often seem impervious to pain, scientists are also looking for medications that increase or decrease the transmission of physical sensations. Endorphins are natural painkillers produced by the body. But in certain people with autism, the endorphins seem to go too far in suppressing feeling. Scientists are exploring substances that block the effects of endorphins, to see if they can bring the sense of touch to a more normal range. Such drugs may be helpful to children who experience too little sensation. And once they can sense pain, such children could be less likely to bite themselves, bang their heads, or hurt themselves in other ways.

Chlorpromazine, theoridazine, and haloperidol have also been used. Although these powerful drugs are typically used to treat adults with severe psychiatric disorders, they are sometimes given to people with autism to temporarily reduce agitation, aggression, and repetitive behaviors. However, since major tranquilizers are powerful medications that can produce serious and sometimes permanent side effects, they should be prescribed and used with extreme caution.  Vitamin B6, taken with magnesium, is also being explored as a way to stimulate brain activity. Because vitamin B6 plays an important role in creating enzymes needed by the brain, some experts predict that large doses might foster greater brain activity in people with autism. However, clinical studies of the vitamin have been inconclusive and further study is needed.  Like drugs, vitamins change the balance of chemicals in the body and may cause unwanted side effects. For this reason, large doses of vitamins should only be given under the supervision of a doctor. This is true of all vitamins and medications.

What are the Educational Options?

The Individuals with Disabilities Education Act of 1990 assures a free and appropriate public education to children with diagnosed learning deficits. The 1991 version of the law extended services to preschoolers who are developmentally delayed. As a result, public schools must provide services to handicapped children including those age 3 to 5. Because of the importance of early intervention, many states also offer special services to children from birth to age 3.  The school may also be responsible for providing whatever services are needed to enable the child to attend school and learn. Such services might include transportation, speech therapy, occupational therapy, and any special equipment. Federally funded Parent Training Information Centers and Protection and Advocacy Agencies in each state can provide information on the rights of the family and child.

By law, public schools are also required to prepare and carry out a set of specific instructional goals for every child in a special education program. The goals are stated as specific skills that the child will be taught to perform. The list of skills make up what is known as an "IEP"-the child's Individualized Educational Program. The IEP serves as an agreement between the school and the family on the educational goals. Because parents know their child best, they play an important role in creating this plan. They work closely with the school staff to identify which skills the child needs most.  In planning the IEP, it's important to focus on what skills are critical to the child's well-being and future development. For each skill, parents and teachers should consider these questions: Is this an important life skill? What will happen if the child isn't trained to do this for herself?

Such questions free parents and teachers to consider alternatives to training. After several years of valiant effort to teach Alan to tie his shoelaces, his parents and teachers decided that Alan could simply wear sneakers with Velcro fasteners, and dropped the skill from Alan's IEP. After Alan struggled in vain to memorize the multiplication table, they decided to teach him to use a calculator.  A child's success in school should not be measured against standards like mastering algebra or completing high school. Rather, progress should be measured against his or her unique potential for self-care and self-sufficiency as an adult.

Can Autism be Outgrown?

At present, there is no cure for autism. Nor do children outgrow it. But the capacity to learn and develop new skills is within every child.  With time, children with autism mature and new strengths emerge. Many children with autism seem to go through developmental spurts between ages 5 and 13. Some spontaneously begin to talk-even if repetitively-around age 5 or later. Some, like Paul, become more sociable, or like Alan, more ready to learn. Over time, and with help, children may learn to play with toys appropriately, function socially, and tolerate mild changes in routine. Some children in treatment programs lose enough of their most disabling symptoms to function reasonably well in a regular classroom. Some children with autism make truly dramatic strides. Of course, those with normal or near-normal intelligence and those who develop language tend to have the best outcomes. But even children who start off poorly may make impressive progress. For example, one boy, after 9 years in a program that involved parents as co-therapists, advanced from an IQ of 70 to an IQ of 100 and began to get average grades at a regular school.  While it is natural for parents to hope that their child will "become normal," they should take pride in whatever strides their child does make. Many parents, looking back over the years, find their child has progressed far beyond their initial expectations.

Autism Gene Scans Converge on Two Suspect Sites, Two Types of Genetic Risk

Four teams of scientists, using resources supported in part by NIMH, have pinpointed two different sites in the genome, each conferring a different type of genetic risk for autism. At one site, risk genes appear to be inherited. At the other, risk stems from spontaneous mutations, not seen in the genetics of the parents. In both examples, evidence suggests the suspect genes are critical for development of brain circuits impaired in autism.

In the inherited form of risk, people with autism were more prone than healthy controls to have certain versions of a gene on Chromosome 7. In the spontaneous form, one percent of autism was traced to a conspicuous "hot spot" of missing or duplicated genes on Chromosome 16.

The new leads help to focus the search for genetic causes of autism spectrum disorders (ASD), which affect 1 in 150 children with language, social and communication deficits and repetitive behaviors. Studies examining the occurrence of ASD in siblings and family members suggest that 90 percent of ASD involves genetic components, yet findings to date account for only about 10 percent of this. Most cases are spontaneous, rather than being passed through families as an inherited feature, suggesting that different rare and possibly multiple mutations likely influence risk in different combinations - and in complex interplay with environmental factors.

"Hot spot" glitch is rare, but notably more prevalent in ASD

In a genome-wide scan, a research team called the Autism Consortium found identical mutations associated with autism at the Chromosome 16 site in three separate samples. In families from the Autism Genetic Resource Exchange (AGRE), Children's Hospital Boston, and Iceland, about one percent of nearly 1500 people with autism or related developmental delays were either missing, or had duplicate copies of, about 25 genes in the Chromosome 16 area.

Though very rare, the mutations were about 100 times more prevalent in children with ASD, the researchers reported in the New England Journal of Medicine, January 9, 2008.

The Chromosome 16 hot spot may be especially prone to such spontaneous rearrangements of genetic material because it evolved relatively recently and is unique to humans and other primates. "Autism may be a relatively 'young' disease," notes an accompanying editorial.2

"The first widely replicated autism-predisposition gene."

Also drawing upon the AGRE resource, three other teams of researchers independently linked inherited variation in a gene on Chromosome 7, called CNTNAP2, with autism. They reported their findings online January 10, 2008, in the American Journal of Human Genetics. An accompanying editorial heralds this triangulation as "the first widely replicated autism-predisposition gene."3

CNTNAP2 is a member of a gene family that makes proteins called Neurexins that have been previously implicated in autism. Neurexins play a key role during development in building the machinery by which brain cells communicate. CNTNAP2 is also conspicuously located in an area of Chromosome 7 consistently identified as harboring autism risk genes.

In one of the new studies, genetic risk for impaired language in autism was linked to specific circuits known to malfunction in the disorder - but only in males. Daniel Geschwind, M.D., of the University of California, Los Angeles, and colleagues ultimately focused on CNTNAP2 after a re-examination of all genes in the suspect Chromosome 7 area.4 They winnowed their search from four candidate genes that emerged in 172 families and confirmed it in a larger sample of 304 families.

The researchers found that a version of CNTNAP2 influences the age at which boys with autism say their first word. Delayed onset of speech is a hallmark of autism, which affects three times as many boys as girls. Boys also are more prone to attention deficit and language disorders and learning disabilities. The findings suggest that gender is likely an important clue in understanding how variation in the gene increases risk.

"Strikingly," expression of CNTNAP2 was narrowly restricted to only a set of interconnected brain structures responsible for speech, language, reward and other "executive" functions - precisely the circuits that malfunction in autism, researchers said.

"This gene may not only predispose children to autism," said Geschwind. "It also may influence the development of brain structures involved in language, providing a tangible link between genes, the brain and behavior."

Another study reported in the same issue of the journal also linked autism to another version, called the thymine variant, of CNTNAP2.5 A research team led by Aravinda Chakravarti, Ph.D., of Johns Hopkins University, found that children with autism were about 20 percent more likely to have inherited this version from their mothers than their fathers. The risk gene version was first identified in 145 children with autism from families that had two or more children with the disorder, and then confirmed in larger sample of 1295 families with autism, drawn from the NIMH Autism Genetics Initiative.

A third group of researchers turned up several autism-linked rare variants of CNTNAP2.6 Matthew State, M.D., Ph.D., of Yale University, and colleagues, became interested in the gene after tracing cognitive and social delays in a child to a spontaneous glitch in a part of the gene. After a thorough search, they found a total of 27 different sites of variation in 635 patients - a relatively larger number than seen in 942 controls. The researchers further determined that 8 of 13 rare variants seen only in patients were likely deleterious to brain development.

All three groups noted that the significance of their findings is amplified by the fact that the other groups also independently implicated CNTNAP2, each using a different approach.

"The three studies together identify a set of common and rare variants that provide unequivocal evidence that the CNTNAP2 gene, when disrupted, leads to a type of ASD," noted Dietrich Stephan, Ph.D., of the Translational Genomics Research Institute, in the accompanying editorial.

In addition to this inherited risk subtype, he suggested that CNTNAP2 likely harbors mutations that confer risk for ASD in some individuals. By understanding these variations, science one day may be able to detect children carrying specific CNTNAP2 mutations and tailor early interventions to assist them during a critical period in brain development (12-24 months), suggested Stephan.

Author: National Institute of Mental Health

References

1 Eichler EE, Zimmerman AW. A Hot Spot of Genetic Instability in Autism. N Engl J Med. 2008 Jan 9; [Epub ahead of print] No abstract available. PMID: 18184953

2 Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ; the Autism Consortium. Association between Microdeletion and Microduplication at 16p11.2 and Autism. N Engl J Med. 2008 Jan 9; [Epub ahead of print] PMID: 18184952

3 Stephan DA. Unraveling autism. Am J Hum Genet. 2008 Jan;82(1):7-9. PMID: 18179879 Autism Online Continuing Education Course, CEUs

4 Alarcón M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, Bomar JM, Sebat J, Wigler M, Martin CL, Ledbetter DH, Nelson SF, Cantor RM, Geschwind DH. Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene. Am J Hum Genet. 2008 Jan 10;82(1):150-159. PMID: 18179893

5 Arking DE, Cutler DJ, Brune CW, Teslovich TM, West K, Ikeda M, Rea A, Guy M, Lin S, Cook EH Jr, Chakravarti A. A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Increases Familial Risk of Autism. Am J Hum Genet. 2008 Jan;82(1):160-4. PMID: 18179894

6 Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek AG, Stillman AA, Tanriover G, Abrahams BS, Duvall JA, Robbins EM, Geschwind DH, Biederer T, Gunel M, Lifton RP, State MW. Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders. Am J Hum Genet. 2008 Jan 10;82(1):165-173. PMID: 18179895

 

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