The autism spectrum disorders are more common in the pediatric population than are some better known disorders such as diabetes, spinal bifida, or Down syndrome.2 A recent study of a U.S. metropolitan area estimated that 3.4 of every 1,000 children 3-10 years old had autism.3 The earlier the disorder is diagnosed, the sooner the child can be helped through treatment interventions. Pediatricians, family physicians, daycare providers, teachers, and parents may initially dismiss signs of ASD, optimistically thinking the child is just a little slow and will “catch up.”
All children with ASD demonstrate deficits in 1) social interaction, 2) verbal and nonverbal communication, and 3) repetitive behaviors or interests. In addition, they will often have unusual responses to sensory experiences, such as certain sounds or the way s look. Each of these symptoms runs the gamut from mild to severe. They will present in each individual child differently. For instance, a child may have little trouble learning to read but exhibit extremely poor social interaction. Each child will display communication, social, and behavioral patterns that are individual but fit into the overall diagnosis of ASD.
Children with ASD 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 in communication and social skills become more noticeable as the child lags further behind other children the same age. Some other children start off well enough. Oftentimes between 12 and 36 months old, the differences in the way they react to people and other unusual behaviors become apparent. Some parents report the change as being sudden, and that their children start to reject people, act strangely, and lose language and social skills they had previously acquired. In other cases, there is a plateau, or leveling, of progress so that the difference between the child with autism and other children the same age becomes more noticeable.
ASD is defined by a certain set of behaviors that can range from the very mild to the severe. The following possible indicators of ASD were identified on the Public Health Training Network Webcast, Autism Among Us.4
From the start, typically developing infants are social beings. Early in life, they gaze at people, turn toward voices, grasp a finger, and even smile.
In contrast, most children with ASD 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 indifferent to other people, and often seem to prefer being alone. They may resist attention or passively accept hugs and cuddling. Later, they seldom seek comfort or respond to parents" displays of anger or affection in a typical way. Research has suggested that although children with ASD are attached to their parents, their expression of this attachment is unusual and difficult to “read.” To parents, it may seem as if their child is not attached at all. Parents who looked forward to the joys of cuddling, teaching, and playing with their child may feel crushed by this lack of the expected and typical attachment behavior.
Children with ASD also are slower in learning 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 frowning 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 ASD have difficulty 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 ASD may lack such understanding. This inability leaves them unable to predict or understand other people"s actions.
Although not universal, it is common for people with ASD also to have difficulty regulating their emotions. This can take the form of “immature” behavior such as crying in class or verbal outbursts that seem inappropriate to those around them. The individual with ASD might also be disruptive and physically aggressive at times, making social relationships still more difficult. They have a tendency to “lose control,” particularly when they"re in a strange or overwhelming environment, or when angry and frustrated. They may at times break things, attack others, or hurt themselves. In their frustration, some bang their heads, pull their hair, or bite their arms.
By age 3, most children have passed 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 clear that the answer is “no.”
Some children diagnosed with ASD remain mute throughout their lives. Some infants who later show signs of ASD coo and babble during the first few months of life, but they soon stop. Others may be delayed, developing language as late as age 5 to 9. Some children may learn to use communication systems such as pictures or sign language.
Those who do speak often use language in unusual ways. They seem unable to combine words into meaningful sentences. Some speak only single words, while others repeat the same phrase over and over. Some ASD children parrot what they hear, a condition called echolalia. Although many children with no ASD go through a stage where they repeat what they hear, it normally passes by the time they are 3.
Some children only mildly affected may exhibit slight delays in language, or even seem to have precocious language and unusually large vocabularies, but have great difficulty in sustaining a conversation. The “give and take” of normal conversation is hard for them, although they often carry on a monologue on a favorite subject, giving no one else an opportunity to comment. Another difficulty is often the inability to understand body language, tone of voice, or “phrases of speech.” They might interpret a sarcastic expression such as “Oh, that"s just great” as meaning it really IS great.
While it can be hard to understand what ASD children are saying, their body language is also difficult to understand. Facial expressions, movements, and gestures rarely match what they are saying. Also, their tone of voice fails to reflect their feelings. A high-pitched, sing-song, or flat, robot-like voice is common. Some children with relatively good language skills speak like little adults, failing to pick up on the “kid-speak” that is common in their peers.
Without meaningful gestures or the language to ask for things, people with ASD are at a loss to let others know what they need. As a result, they may simply scream or grab what they want. Until they are taught better ways to express their needs, ASD children do whatever they can to get through to others. As people with ASD grow up, they can become increasingly aware of their difficulties in understanding others and in being understood. As a result they may become anxious or depressed.
Although children with ASD usually appear physically normal and have good muscle control, odd repetitive motions may set them off from other children. These behaviors might be extreme and highly apparent or more subtle. Some children and older individuals spend a lot of time repeatedly flapping their arms or walking on their toes. Some suddenly freeze in position.
As children, they might spend hours lining up their cars and trains in a certain way, rather than using them for pretend play. If someone accidentally moves one of the toys, the child may be tremendously upset. ASD children need, and demand, absolute consistency in their environment. A slight change in any routine—in mealtimes, dressing, taking a bath, going to school at a certain time and by the same route—can be extremely disturbing. Perhaps order and sameness lend some stability in a world of confusion.
Repetitive behavior sometimes takes the form of a persistent, intense preoccupation. For example, the child might be obsessed with learning all about vacuum cleaners, train schedules, or lighthouses. Often there is great interest in numbers, symbols, or science topics.
Sensory problems. 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, the child"s experiences of the world can be confusing. Many ASD children are highly attuned or even painfully sensitive to certain sounds, textures, tastes, and smells. Some children find the feel of clothes touching their skin almost unbearable. Some sounds—a vacuum cleaner, a ringing telephone, a sudden storm, even the sound of waves lapping the shoreline—will cause these children to cover their ears and scream.
In ASD, the brain seems unable to balance the senses appropriately. Some ASD children are oblivious to extreme cold or pain. An ASD child may fall and break an arm, yet never cry. Another may bash his head against a wall and not wince, but a light touch may make the child scream with alarm.
Mental retardation. Many children with ASD have some degree of mental impairment. When tested, some areas of ability may be normal, while others may be especially weak. For example, a child with ASD may do well on the parts of the test that measure visual skills but earn low scores on the language subtests.
Seizures. One in four children with ASD develops seizures, often starting either in early childhood or adolescence. 5 Seizures, caused by abnormal electrical activity in the brain, can produce a temporary loss of consciousness (a “blackout”), a body convulsion, unusual movements, or staring spells. Sometimes a contributing factor is a lack of sleep or a high fever. An EEG (electroencephalogram—recording of the electric currents developed in the brain by means of electrodes applied to the scalp) can help confirm the seizure"s presence.
In most cases, seizures can be controlled by a number of medicines called “anticonvulsants.” The dosage of the medication is adjusted carefully so that the least possible amount of medication will be used to be effective.
Fragile X syndrome. This disorder is the most common inherited form of mental retardation. It was so named because one part of the X chromosome has a defective piece that appears pinched and fragile when under a microscope. Fragile X syndrome affects about two to five percent of people with ASD. It is important to have a child with ASD checked for Fragile X, especially if the parents are considering having another child. For an unknown reason, if a child with ASD also has Fragile X, there is a one-in-two chance that boys born to the same parents will have the syndrome. 6 Other members of the family who may be contemplating having a child may also wish to be checked for the syndrome.
A distinction can be made between a father"s and mother"s ability to pass along to a daughter or son the altered gene on the X chromosome that is linked to fragile X syndrome. Because both males (XY) and females (XX) have at least one X chromosome, both can pass on the mutated gene to their children.
A father with the altered gene for Fragile X on his X chromosome will only pass that gene on to his daughters. He passes a Y chromosome on to his sons, which doesn"t transmit the condition. Therefore, if the father has the altered gene on his X chromosome, but the mother"s X chromosomes are normal, all of the couple"s daughters would have the altered gene for Fragile X, while none of their sons would have the mutated gene. Because mothers pass on only X chromosomes to their children, if the mother has the altered gene for Fragile X, she can pass that gene to either her sons or her daughters. If the mother has the mutated gene on one X chromosome and has one normal X chromosome, and the father has no genetic mutations, all the children have a 50-50 chance of inheriting the mutated gene.
The odds noted here apply to each child the parents have 7 in terms of prevalence, the latest statistics are consistent in showing that 5% of people with autism are affected by fragile X and 10% to 15% of those with fragile X show autistic traits.
Tuberous Sclerosis. Tuberous sclerosis is a rare genetic disorder that causes benign tumors to grow in the brain as well as in other vital organs. It has a consistently strong association with ASD. One to 4 percent of people with ASD also have tuberous sclerosis.
The severity of symptoms varies greatly between individuals, but all people with autism have some core symptoms in the areas of:
Symptoms of autism are usually noticed first by parents and other caregivers sometime during the child"s first 3 years. Although autism is present at birth (congenital), signs of the disorder can be difficult to identify or diagnose during infancy. Parents often become concerned when their toddler does not like to be held; does not seem interested in playing certain games, such as peekaboo; and does not begin to talk. Sometimes, a child will start to talk at the same time as other children the same age, then lose his or her language skills. They also may be confused about their child"s hearing abilities. It often seems that a child with autism does not hear, yet at other times, he or she may appear to hear a distant background noise, such as the whistle of a train.
With early and intensive treatment, most children improve their ability to relate to others, communicate, and help themselves as they grow older. Contrary to popular myths about children with autism, very few are completely socially isolated or "live in a world of their own."
Autism (say: aw-tih-zum) causes kids to experience the world differently from the way most other kids do. It"s hard for kids with autism to talk with other people and express themselves using words. Kids who have autism usually keep to themselves and many can"t communicate without special help.
They also may react to what"s going on around them in unusual ways. Normal sounds may really bother someone with autism — so much so that the person covers his or her ears. Being touched, even in a gentle way, may feel uncomfortable.
Kids with autism often can"t make connections that other kids make easily. For example, when someone smiles, you know the smiling person is happy or being friendly. But a kid with autism may have trouble connecting that smile with the person"s happy feelings.
A kid who has autism also has trouble linking words to their meanings. Imagine trying to understand what your mom is saying if you didn"t know what her words really mean. It is doubly frustrating then if a kid can"t come up with the right words to express his or her own thoughts.
Autism causes kids to act in unusual ways. They might flap their hands, say certain words over and over, have temper tantrums, or play only with one particular toy. Most kids with autism don"t like changes in routines. They like to stay on a schedule that is always the same. They also may insist that their toys or other s be arranged a certain way and get upset if these items are moved or disturbed.
If someone has autism, his or her brain has trouble with an important job: making sense of the world. Every day, your brain interprets the sights, sounds, smells, and other sensations that you experience. If your brain couldn"t help you understand these things, you would have trouble functioning, talking, going to school, and doing other everyday stuff. Kids can be mildly affected by autism, so that they only have a little trouble in life, or they can be very affected, so that they need a lot of help.
Autism affects about 1 in every 150 kids, but no one knows what causes it. Some scientists think that some kids might be more likely to get autism because it or similar disorders run in their families. Knowing the exact cause of autism is hard because the human brain is very complicated.
The brain contains over 100 billion nerve cells called neurons (say: nur-ahns). Each neuron may have hundreds or thousands of connections that carry messages to other nerve cells in the brain and body. The connections and the chemical messengers they send (called neurotransmitters) let the neurons that help you see, feel, move, remember, and work together as they should.
For some reason, some of the cells and connections in the brain of a kid with autism — especially those that affect communication, emotions, and senses — don"t develop properly or get damaged. Scientists are still trying to understand how and why this happens.
Figuring out if a kid has autism can be difficult. A parent is usually the first to suspect that something is wrong. Maybe the kid is old enough to speak but doesn"t, doesn"t seem interested in people, or behaves in other unusual ways. But autism isn"t the only problem that can cause these kinds of symptoms. For example, kids who have hearing problems might have trouble speaking, too.
Usually, the results of lab tests and other medical tests are normal in kids with autism, but doctors may do them to make sure the kid doesn"t have other problems. These medical tests can include blood and urine tests, a hearing exam, an EEG (a test to measure brain waves), and an MRI (a picture that shows the structure of the brain). Intelligence (IQ) tests also might be done.
Often, specialists work together as a team to figure out what is wrong. The team might include a pediatrician, a pediatric neurologist, a pediatric developmentalist, a child psychiatrist, a child psychologist, speech and language therapists, and others. The team members study how the child plays, learns, communicates, and behaves. The team listens carefully to what parents have noticed, too. Using the information they"ve gathered, doctors can decide whether a child has autism or another problem.
There is no cure for autism, but doctors, therapists, and special teachers can help kids with autism overcome or adjust to many difficulties. The earlier a kid starts treatment for autism, the better.
Different kids need different kinds of help, but learning how to communicate is always an important first step. Spoken language can be hard for kids with autism to learn. Most understand words better by seeing them, so therapists teach them how to communicate by pointing or using pictures or sign language. That makes learning other things easier, and eventually, many kids with autism learn to talk.
Therapists also help kids learn social skills, such as how to greet people, wait for a turn, and follow directions. Some kids need special help with living skills (like brushing teeth or making a bed). Others have trouble sitting still or controlling their tempers and need therapy to help them control their behavior. Some kids take medications to help their moods and behavior, but there"s no medicine that will make a kid"s autism go away.
Students with mild autism sometimes can go to regular school. But most kids with autism need calmer, more orderly surroundings. They also need teachers trained to understand the problems they have with communicating and learning. They may learn at home or in special classes at public or private schools.
Some kids with mild autism will grow up and be able to live on their own. Those with more serious problems will always need some kind of help. But all kids with autism have brighter futures when they have the support and understanding of doctors, teachers, caregivers, parents, brothers, sisters, and friends.
