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APRIL DEFIESTA AUTISM Autism, disorder that affects the social, emotional, and behavioral development of children.

Autism is marked by serious difficulties in interacting and communicating with other people. Other symptoms may include constantly repeating certain actions or behaviors, or having intense interests restricted to only particular things or topics. Symptoms of autism usually appear before the age of three and can last the rest of a persons lifetime. Autism is at least four times more common in boys than in girls. The term autism comes from Greek auto, meaning self, and refers to an abnormal withdrawal from the world outside oneself. The American psychiatrist Leo Kanner first described the disorder in 1943. Autism was originally thought to be a form of schizophrenia, but it has been recognized since the 1960s as a distinct developmental disorder that is not a psychosis. Modern researchers now identify a wide spectrum of autism symptoms that may occur in different combinations or with different severities in children. The causes of autism remain a major area of research and of controversy. Studies indicate that autism is often associated with abnormalities in the functioning of the brain and that the disorder may have a genetic basis in most cases. Raising a child with autism can present special challenges for a family. There is no cure for autism but some treatments and therapies can lessen the symptoms. Some persons with autism may need special care throughout their lives while others may learn to function independently in society. SYMPTOMS The diagnosis of autismofficially called autistic disorder (AD)is based upon the American Psychiatric Associations definition of three symptoms areas: (1) social difficulties, (2) communication difficulties, and (3) restrictive interests or repetitive behaviors. Symptoms from all three of these areas must be present before the age of three to make a diagnosis of autism. Most children with autism show developmental delays from the infant or toddler period. In some cases,

however, children with autism suffer a regression, or loss of skills, after a period of normal development. Social Difficulties Symptoms of social difficulty are usually the first signs of autism. Normally an infant should respond to others with a social smile within the second or third month of life. Lack of such a smile during this period is often the earliest indication of autism. Infants who are later diagnosed with autism also make poor eye contact and do not imitate caregiver sounds or gestures. Children with autism typically do not share their enjoyment with others. For example, toddlers with autism may smile or laugh in response to a noisy toy, but they will not bring this toy to the caregiver. Another early sign of problems in social communication is a lack of gestures, including pointing. As they get older, children with autism often fail to develop typical friendships or even typical relationships with siblings or parents. They may also seem unaware of the feelings of other people or fail to comfort a person who is upset. Communication Difficulties Children with autism have difficulties with communication, including both gestures and speech. Often children with autism have a delay in speech and in severe cases sometimes do not speak at all. They also fail to use gestures to replace words. How well children with autism will be able to function as they grow older can often be predicted based on their early language skills. When children with autism are able to speak, they may repeat back exactly what is said to them, a behavior that is called echolalia. Sometimes they will quote whole conversations or a dialog from a movie. Frequently, children with autism misuse pronouns. For example, they may say, You want a cookie? to indicate that they want a cookie. As they get older, children with autism will be unable to have conversations with others. They will also not play make-believe but instead will often simply line up objects or replay a TV show or movie using their toys. Unusual Behaviors The restricted interests or repetitive behaviors that often occur in autism are sometimes the

least obvious symptoms when children are toddlers. These symptoms usually become a larger problem around the age of four or five. Many children with autism will have a limited number of intense interests, such as dinosaurs, trains, or characters from a cartoon. They may also be preoccupied with parts of objects. For example, they may spin the wheel of a toy car instead of pretending to drive it. Frequently, children with autism will insist on doing things in exactly the same way or on following the same routine from day to day. As a result, they may become very upset in response to a minor change, such as not having their usual breakfast cereal or taking a different route when driving home from school. Children with autism may also repeat body movements, such as spinning, rocking, or flapping hands. When upset or excited, they may also harm themselves by skin-biting or head-banging. They may also show significant aggression toward other people or inanimate objects, or may have episodes of extreme anger or frustration. Associated Symptoms Sensory sensitivity is quite common, especially to some textures, sounds, or smells. For example, many children with autism cannot tolerate the feeling of tags or labels attached to their clothing. Some children may be alarmed by common sounds such as a flushing toilet or falling rain. They may react to ordinary smells such as perfume or discarded food as disgusting or overwhelming. Problems with belly pain, constipation, or diarrhea are frequently reported. These problems may sometimes be due to encopresis, a painful but treatable condition caused by a partial blockage of the large intestine with hard stool. Some reports also suggest an increase in allergies and in problems with the immune system. DIAGNOSING AUTISM AND RELATED DISORDERS Most children with autism or a related disorder show some but not all symptoms of the disorder. It is important to have a thorough evaluation with a psychologist or physician to get a clear diagnosis and treatment plan.

Classic autism, termed autistic disorder, is one of five disorders making up the pervasive developmental disorders (PDDs). Two other diagnoses, Aspergers syndrome and PDD not otherwise specified (PDD-NOS), are considered part of the autism spectrum. The remaining two diagnoses for PDDs, Rett syndrome and childhood disintegrative disorder, are much rarer and have a worse prognosis. Aspergers Syndrome When children do not have communication problems and have average intelligence but do have autistic symptoms in social and behavioral areas, they may be diagnosed with Aspergers syndrome. Hans Asperger, an Austrian psychiatrist, first described children with this cluster of symptoms in 1944. Autism and Aspergers syndrome are often difficult to separate. A careful history may reveal that a child who does not have communication problems at 10 years old did have a significant language delay or cannot have a conversation except when talking about a restricted interest, such as dinosaurs or cartoon characters. Children diagnosed with Aspergers syndrome often use unusual words and may sound oldfashioned or as if they are reading out of a textbook. Sometimes this unusual language is actually delayed echolalia, where they are repeating back something that they heard or read word-for-word. Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS) Many children have symptoms in one or two of the three symptom areas but do not show enough symptoms for the diagnosis of autistic disorder or Aspergers syndrome. These children are typically diagnosed with pervasive developmental disorder not otherwise specified (PDD-NOS) and are often described as being on the autism spectrum. Children with this diagnosis can be very different from one another. Additionally, it is often difficult to separate children who have PDD-NOS from children who have speech or language problems that result in difficulty forming relationships. The particular areas of difficulty should be used to shape the goals for each individual child, both at home and at school. Rett Syndrome Rett syndrome is a severe disorder that affects only girls. Although it progresses from symptoms resembling autism, it is not classified

as part of the autism spectrum. Symptoms include characteristic hand movements, loss of language and motor skills, seizures, and eventually death from irregular breathing. Childhood Disintegrative Disorder Childhood disintegrative disorder (CDD) is diagnosed in children who develop symptoms similar to autism after a two- to four-year period of apparent normal development. Such children may then lose such basic abilities as language, self-care, and toilet use. They also lose interest in their social and even physical environment. Because the onset and course of CDD are distinct from autism, it is not considered part of the autism spectrum. The prognosis for CDD is also worse than for autismCDD usually results in very severe impairment. Distinctness of Autism A number of the symptoms associated with autism also occur in other developmental or behavioral disorders, and in certain mental illnesses. However, the special combination of symptoms and their severity set autism apart. Severe social withdrawal is found in schizophreniain fact, autism was originally misclassified as a type of childhood schizophrenia. However, the symptoms of schizophrenia typically develop in adolescence or later, and can include bizarre behavior or delusions that do not otherwise impair intelligence and communication capabilities. Medications can often reduce symptoms of schizophrenia to a point where a person with the illness can function and communicate relatively normally. The causes of schizophrenia appear to be biological, affecting the development and functioning of the brain. Mental retardation is associated with a range of disorders, but the behaviors characteristic of autism may not be present. For example, children with Down syndrome have serious language and other cognitive difficulties. In most cases, however, they do not suffer the kind of social withdrawal characteristic of autism and instead can be highly affectionate and responsive to others. Down syndrome is caused by a clearly identified chromosomal disorder and results in distinctive changes in facial features.

Children with Tourettes syndrome, a neurological disorder characterized by involuntary body movements and vocal outbursts, may engage in repetitive actions or have sudden, violent tantrums. However, their intelligence and their social and emotional development are typically normal. Forms of serious self-destructive behavior such as head-banging, scratching or biting oneself, and using objects in the environment to cut or injure oneself, are also associated with a number of disorders, including several genetic disorders such as Lesch-Nyhan syndrome, fragile X syndrome, and Cornelia de Lange syndrome. Other types of destructive or aggressive behavior, including violent tantrums, can have many causes, including reactions to child abuse or emotional stress. Causes Researchers are unlikely to find a single cause in the majority of cases of children with autism. With a better understanding of the causes, autism may prove to be a number of separate disorders with different risk factors that lead to a similar pattern of problems. According to current research, most cases of autism almost certainly have a biological basis that involves brain abnormalities and genes. Early Ideas The term autism was originally proposed in 1911 by the Swiss psychiatrist Eugen Bleuler to describe a common feature of schizophrenia in adultsextreme withdrawal from social contact with others. Schizophrenia is a severe mental illness in which a person is often cut off from reality. The American psychiatrist Leo Kanner used the term autism in its modern sense in 1943 for a disorder found in children, which he termed an extreme autistic aloneness. Kanner and many of his colleagues originally viewed autism as a subtype of schizophrenia, and thus a psychosis. Soon after Leo Kanners original description of autism in 1943, the idea arose that autism was caused by a mothers lack of warmth and connection to her infant. This idea appears in Kanners descriptions of autism but was expanded by Bruno Bettelheim, an Austrianborn child psychologist who popularized the term refrigerator mother. The idea of bad parenting causing autism was not only damaging to countless families but also false.

Beginning in the 1960s and the early 1970s a new view of autism emerged. Scientists recognized autism in children as a disorder distinct from schizophrenia, and not a psychosis. Additionally, the likely cause of autism was shifted to neurological abnormalities, not poor parenting. Continuing research has supported these ideas and has provided many important insights into possible biological bases for the disorder. Genetic Causes Studies of identical and fraternal twins have demonstrated that genetic factors are the largest cause of autism. Beginning with a pioneering study by Susan Folstein and Michael Rutter in 1977, these studies found that identical twins share an autism diagnosis much more frequently than fraternal twins identical twins have exactly the same DNA while fraternal twins have only half the same DNA. If one identical twin is diagnosed with autism, the other identical twin will also be diagnosed with autism 60 percent of the time, and with symptoms of an autism spectrum disorder more than 90 percent of the time. In comparison, if a fraternal twin is diagnosed with autism, the other twin will have symptoms of an autism spectrum disorder only 10 percent of the time. These numbers can be used to estimate that genetic risk determines at least 90 percent of the time whether a child will develop autism. This pattern of genetic risk predicts that variation in more than one gene is necessary to cause risk of autism. This does not rule out environmental causes but points to genetics as the primary cause. Additionally, change in the methods of autism diagnosis or in the frequency of autism in the population would lead to a change in the estimate of genetic risk. Genetic Disorders with Autistic Symptoms Several rare genetic disorders that cause developmental problems in multiple organs of the body also include autistic symptoms. Rett syndrome is classified as one of the five pervasive developmental disorders (PDDs), along with autism. Rett syndrome is caused by mutations in the MECP2 gene on the X chromosome. It is a severe disorder found only in girls and progresses from symptoms of

autism to seizures, and eventual death from irregular breathing. Fragile X syndrome affects primarily boys and is caused by a variation in the FMR1 gene on the X chromosome. Affected boys have mental retardation, a long face, large ears, enlarged testes, and often social difficulties and hyperactivity. Smith-Lemli-Opitz syndrome, which results from a defect in the cholesterol pathway, leads to a small head, a distinctive facial appearance (upturned nose and undersized lower jaw), and finger abnormalities, but it also includes autistic symptoms in most children. Many other genetic syndromes include autistic features as part of a larger cluster of developmental abnormalities. A few rare genetic causes of autism have been found that do not lead to problems in other organs. A couple of these rare mutations affect genes such as NLGN4 and SHANK3 that are involved in connecting neurons to each other. Another set of rare genetic variations in the SLC6A4 gene increase the activity of the serotonin transporter protein that pulls serotonin into platelets and neurons, which may explain a portion of the patients with hyperserotonemia. The risk of autism is doubled in children who inherit a common variation of the MET gene, which is important for growth of the cerebellar vermis, a structure connecting the two lobes of the cerebellum in the brain. Several other genes may also increase the risk of autism, but researchers have not yet identified which variations in the genes are responsible. TREATMENT There are no known cures for autism or autism spectrum disorders. Until the 1960s and even into the early 1970s, children and adults with autism were routinely kept in institutions. Now children with autism are often raised at home by their parents. Many adults with forms of autism can live in the outside world with some type of assistance. Currently, treatment includes the use of individualized education, communication tools, behavioral management, and medication. The devastating impact the disorder can have on children and families has led some parents to try many unproven treatments in the hope of a breakthrough or major improvement. The mainstays of treatment for autism include interpersonal, behavioral, and communication principles all applied toward educational goals. Parents, teachers, and therapists need to work

together to help a child gain new skills and abilities. Several approaches are being used to work toward these goals. Therapy and Training Approaches Ivar Lovaas, an American psychologist, pioneered a behavioral modification system that includes immediate rewards and punishments to shape a childs behavior. A controversial aspect of this approach is the use of electric shock to deter self-destructive behavior in extreme cases. The Treatment and Education of Autistic and Related Communication-Handicapped Children (TEACCH) system uses a picture schedule of time-limited tasks to gradually build on skills while also including well-liked tasks as a reward. The Floortime system uses frequent play sessions with a parent to connect therapy goals with activities that a child finds exciting or fun, ideally gaining skills and developing a deeper relationship with a parent at the same time. Other systems have also been applied, but it is not yet clear whether any one approach is better than another. Medications Medication is not a primary treatment for autism itself but can be helpful for related symptoms. Risperidone (Risperdal) received Food and Drug Administration (FDA) approval in 2006 for irritability in autism and is the first medication to receive FDA approval in treatment of the disorder. Most of the children in the studies of risperidone treatment had significant aggression toward themselves or others or episodes of extreme anger or frustration. Risperidone may have significant side effects including weight gain, risk of diabetes, and movement disorders. A group of medications called the serotonin reuptake inhibitors have been used successfully to treat compulsive behaviors in autism. These medications include fluoxetine (Prozac), fluvoxamine (Luvox), and escitalopram (Lexapro). Some children experience decreased sleep and agitation on these medications, and the dose needs to be carefully monitored by an experienced clinician.

A number of other medications may also be used in children with autism, particularly when they also have extreme hyperactivity, poor sleep, or aggression. No medication has been shown to have significant effects on the social or communication difficulties seen in autism. Alternative Treatments Many clinicians and parents have looked to alternative treatments for autism. These treatments often have no scientific basis or offer no evidence that they are effective. Approaches such as providing special vitamin supplements or making dietary changes should cause no serious harm to children in most cases, although some proposed diets can lead to vitamin deficiencies. Most concerning, however, are invasive treatments such as heavy metal chelation. Chelation therapy uses chemicals to remove heavy metals such as mercury and cadmium from the body. The treatment has caused the death of at least one child with autism without having any known benefit. EDUCATION OF CHILDREN WITH AUTISM The educational needs of children with autism are variable. Some children require a selfcontained classroom with all special education classes. Others can be included in mainstream classrooms with little or no support. Treatment principles from programs such as TEACCH or Lovaas can be included in the school day. No single approach will be right for every child with autism. Federal law obligates public schools to assess each childs individual needs and provide an appropriate educational setting to meet those needs. LIFE FOR ADULTS WITH AUTISM How a person with autism functions in adult life depends greatly on language skills and intelligence. Some people with so-called highfunctioning autism are able to live and work independently. In some cases, adults with forms of autism have pursued professional careers such as veterinary medicine, mathematics, or writing. Adults with Aspergers syndrome can develop special strategies to overcome problems with memory or with understanding emotions in others. For example, a computer program was recently developed to help teach adults with autism how to interpret facial expressions in others.

Adults with more severe autism may require significant social support in a residential community. Those with limited speech often need close supervision, either within a family or in a group home or other residential placement. The best jobs for most adults with autism have clear rules, may include a particular skill or interest, and do not include complex social interactions.

discrepancy as evidence that physicians and psychologists too often apply psychiatric labels to children who are naturally more active or simply nuisances to teachers and parents. CHARACTERISTICS Children and adults with ADHD consistently show various degrees of inattention, hyperactivity, and impulsiveness. Inattention means that people with ADHD have difficulty keeping their minds on one thing. They may get bored with homework or other tasks after a few minutes, make careless mistakes, have trouble listening, and seem to daydream. However, children with ADHD sometimes can concentrate on and complete new or unusually interesting tasks. Hyperactivity involves almost constant motion, as if driven by a motor. Children may squirm and fidget at their desks in school, get up often to roam around the room, constantly touch things, disturb other people, tap pencils, and talk constantly. ADHD also makes children unusually impulsive, so that they act before thinking. They may run into the street without looking, blurt out inappropriate comments in class, interrupt conversations, and be unusually clumsy or accident-prone. Children with ADHD often have severe learning problems because of their difficulties in paying attention, following instructions, and completing tasks. In addition, their disruptive, demanding behavior makes them unpopular with peers. Children with ADHD often receive constant criticism and correction from teachers and parents, who believe the behavior is intentional. The combination of negative feedback, poor academic achievement, and social problems may contribute to low self-esteem and other emotional problems. CAUSES Scientists do not know what causes ADHD. However, they have discredited many theories that once were widely accepted. One theory contended that ADHD resulted from minor head injuries or undetectable brain damage due to infections or complications during birth. Experts called ADHD minimal brain damage and minimal brain dysfunction when this theory was popular in the early 1970s. Another theory linked ADHD with consumption of refined sugar and food additives. Scientists questioned this theory when studies showed that few children with ADHD benefited from diets restricting sugar and food colorings. Most experts also reject the idea that poor parenting

Attention-Deficit Hyperactivity Disorder or Hyperactivity (ADHD) Attention-Deficit Hyperactivity Disorder or Hyperactivity (ADHD), disorder beginning in childhood, characterized by a persistent inability to sit still, focus attention on specific tasks, and control impulses. Children with ADHD show these behaviors more frequently and severely than other children of the same age. A person with ADHD may have difficulty with school, work, friendships, or family life. ADHD has also been referred to as attention-deficit disorder, hyperkinesis, minimal brain dysfunction, and minimal brain damage. Attention-deficit hyperactivity disorder is one of the most common mental disorders of childhood, affecting 3 to 5 percent of schoolage children. The disorder occurs at least four times more often in boys than in girls. Although the symptoms sometimes disappear with age, ADHD can persist into adolescence and adulthood. Some estimates show that up to 2 percent of adults have ADHD. DIAGNOSIS Diagnosing ADHD is difficult because most children are inattentive, hyperactive, and impulsive at least some of the time. In diagnosing ADHD, experts use guidelines listed in the Diagnostic and Statistical Manual of Mental Disorders. These guidelines require that a child show behaviors typical of ADHD before the age of seven. The behaviors must last for at least six months, and must occur more frequently than in other children of the same age. The behaviors also must occur in at least two settings, such as classroom and home, rather than just at a single setting. Controversy exists over the diagnosis of ADHD. Physicians in the United States diagnose the disorder more often than doctors elsewhere in the world. Critics regard this

or a dysfunctional home environment causes ADHD. Most scientists regard ADHD as a biological disorder caused by abnormalities in the brain. Studies have shown that areas of the brain that control attention span and limit impulsive behavior are less active in people with ADHD. In addition, ADHD seems to run in families, suggesting that genetic factors may play an important role (see Genetics). One study showed that about one-third of fathers who had ADHD in childhood have children with ADHD. TREATMENT Although there is no cure for ADHD, a variety of treatments may help children with this disorder. These include medication, counseling, social skills training, and other methods. Medication Drugs are the most common treatment for ADHD and can help reduce symptoms of the disorder. Physicians usually prescribe one of three drugs: methylphenidate (marketed under the brand names Concerta, Methylin, Metadate, and Ritalin), dextroamphetamine (Dexedrine or DextroStat), and pemoline (Cylert). These drugs are normally stimulants, yet they ease hyperactivity and other symptoms in 90 percent of children with ADHD. The drugs work by altering levels of neurotransmitters, brain chemicals that transmit nerve signals. A newer stimulant used to treat ADHD, Adderall, combines dextroamphetamine and amphetamine. At least one drug used to treat ADHD, atomoxetine (Strattera), which is manufactured by Eli Lilly and Company, is not classified as a stimulant. Medical experts generally regard stimulants as safe. The most common side effects include stomachaches, loss of appetite, nervousness, and insomnia. Drug therapy may slow a childs rate of growth temporarily, but growth usually returns to normal during adolescence. Low doses of stimulants do not cause a high sensation, sedate the child, or cause addiction. Experts often recommend that children take medication only during school, with medication breaks on weekends and holidays to reduce unwanted side effects. Doctors may prescribe other types of drugs if stimulants do not prove effective.

Other Therapies Most children with ADHD need more than medication. Drugs only relieve symptoms of ADHD, which usually return when medication is discontinued. Although drugs may help a child to concentrate and complete schoolwork, they cannot increase a childs knowledge, teach academic skills, or directly alter underlying learning disorders or other problems. Experts cite the need for more information on whether medication improves a childs chances for a successful career. Children may benefit from several different kinds of therapy. Psychological counseling, for instance, can help them recognize and deal with negative feelings that result from their symptoms. Social skills training can help them recognize how their behavior affects other people and help them develop more appropriate behavior. Children with ADHD also may benefit from special academic tutors who show them how to break school assignments down into small parts that can be completed one at a time. Because children with ADHD often cause family turmoil, parents and other family members may benefit from therapy or support groups in which other parents share their experiences. Parental skills training can teach parents to manage a childs behavior with praise and other rewards, and with penalties such as time-outs in which a child must sit alone to calm down. Many children with ADHD continue to have problems as adolescents and adults. Adults with ADHD may be unusually impatient and restless and may become bored before finishing a task.