Asperger syndrome

• Asperger syndrome is a mild type of autism spectrum disorder (ASD). These disorders are characterized by problems with communication and social interaction and by unusual, repetitive behaviors. Some professionals use a broader term, called pervasive development disorders (PDDs), to describe autism spectrum disorders. In addition to Asperger syndrome, there are four other disorders that qualify as PDDs: autism, childhood disintegrative disorder, pervasive developmental disorder-not otherwise specified (PDD-NOS), and Rett syndrome.
• Children with Asperger syndrome usually have normal intelligence and do not have the language problems typical of autism. Patients with Asperger syndrome have many of the same social interaction and communication problems as autistic patients. However, patients with Asperger syndrome tend to have normal intelligence and verbal skills. Although these patients typically have strong verbal and grammar skills, they usually have other language problems, such as being too literal and/or having difficulty understanding non-verbal communications, such as body language. Other symptoms may include motor skill problems (e.g., clumsy movements), obsessive or repetitive routines and schedules, and sensitivity to sensory information (e.g., sound, light, or taste).
• Asperger syndrome is named after Hans Asperger, a Viennese pediatrician who, in 1940, first described a set of behavior patterns apparent in some of his patients, most of whom were males. Asperger described these boys as having normal intelligence and language development but having severely impaired social and communication skills and poor coordination.
• Some doctors believe that Asperger syndrome is not a separate and distinct disorder from autism. Instead, they call it high-functioning autism (HFA) and view it as being on the mild end of the ASD spectrum with symptoms that differ only slightly from classic autism.
• The cause of Asperger syndrome is currently unknown, although it may be inherited. Genetic mutations known to cause Asperger syndrome have not been discovered.
• The age of diagnosis of Asperger syndrome is later than what is typical in autism, which may be because people with Asperger syndrome have normal language skills. Most children with Asperger syndrome are diagnosed between the ages of 8 and 11. Motor development delays, such as clumsiness and crawling or walking late, are often the first indications of the disorder. Although diagnosed mainly in children, Asperger syndrome is being increasingly diagnosed in adults who seek medical help for conditions such as depression, obsessive-compulsive disorder (OCD), and attention deficit hyperactivity disorder (ADHD).
• The number of children diagnosed with autism spectrum disorders has increased over the years. It is unclear whether more children are developing the disorders or if doctors have become better at recognizing the symptoms. Approximately one out of every 5,000 children develops Asperger syndrome. For unknown reasons, boys are three to four times more likely than girls to develop the disorder. All ethnic groups are equally affected.
• Although there is currently no known cure for Asperger syndrome, treatments and therapies have been shown to help patients live healthy, relatively normal lives. With early diagnosis, timely intervention is possible. Some patients are able to live independently once they become adults, while others may need lifelong support.

• The number of children diagnosed with autism spectrum disorders has increased during recent years. It is unclear whether more children are developing the disorder or doctors have become better at recognizing the symptoms. Approximately one out of every 5,000 children develops Asperger syndrome. For unknown reasons, boys are three to four times more likely than girls to develop the disorder.
• Although the disease may be inherited, a specific gene for Asperger syndrome has not yet been identified. There are several Asperger syndrome susceptibility genes that are being studied, however, including ASPG1 on chromosome 3, ASPG2 on chromosome 17, and ASPG3 on chromosome 1. Additionally, researchers have identified two genes on the X chromosome that provide instructions for making neurologins (proteins important in communication within the nervous system). Mutations in these genes, which include NLGN3 and NLGN4, may cause Asperger syndrome. Some cases of Asperger syndrome have been linked to exposure to teratogens (chemicals that cause birth defects) during pregnancy.

• General: The cause of Asperger syndrome is unknown, although it may be inherited. Whether caused by genetic defects of environmental factors, Asperger syndrome appears to be linked to structural abnormalities in several regions of the brain. Most researchers believe that several factors are involved.
• Using brain imaging techniques, scientists have discovered differences in specific regions of the brains of people with Asperger syndrome compared with brains of normal people. These defects may be caused by abnormal migration of embryonic cells during fetal development that affects brain structure and the nerve circuits that control thoughts and behavior. Other possible causes of improper brain formation include serotonin (a brain chemical) and/or cerebellar (a region of the brain) dysfunction.
• Emotional trauma: In the past, it was suggested that emotional trauma early in life increased a child's risk of developing autism spectrum disorders. Traumatic events, such as physical abuse or neglect before the age of three, were thought to contribute to the development of the disorder. However, this theory has fallen out of favor.
• Genetics: Based on the observation that Asperger syndrome tends to run in families, genetics may play a role in the development of the disease. Some family members show symptoms similar to Asperger syndrome but in a more limited form, such as mild difficulties with social interaction, language, or reading. To date, a specific gene for Asperger syndrome has not been identified. There are several Asperger syndrome susceptibility genes that are being studied, however, including ASPG1 on chromosome 3, ASPG2 on chromosome 17, and ASPG3 on chromosome 1. Additionally, two genes have been identified on the X chromosome that provide instructions for making neurologins (proteins important in communication within the nervous system). These X-linked genes are NLGN3 and NLGN4 and mutations in their sequence may cause Asperger syndrome. Although an individual's genetic makeup may influence the likelihood that he or she will develop the disorder, many other factors also seem to be involved.
• Medical conditions: In some patients, Asperger syndrome has been linked to other medical conditions, including attention deficit hyperactivity disorder (ADHD), tic disorders (such as Tourette syndrome), depression, bipolar disorder, anxiety disorders, and obsessive-compulsive disorder (OCD). Doctors believe that having these other disorders may increase an individual's risk of also having Asperger syndrome.
• Teratogen exposure: Some cases of Asperger syndrome have been linked to exposure to teratogens (chemicals that cause birth defects) during the first eight weeks following conception.
• Vaccines: It has been suggested that vaccines, such as the measles-mumps-rubella (MMR) vaccine and mercury-containing vaccines, may lead to autism spectrum disorders. However, current scientific research has not confirmed this link.

• General: Patients with Asperger syndrome have some of the same social interaction and communication difficulties as autistic patients. However, patients with Asperger syndrome have normal intelligence and verbal skills. The most distinctive symptom of Asperger syndrome is a child's obsessive interest in a single object or topic. To the untrained eye, however, a child with Asperger syndrome may just seem like a normal child behaving differently.
• Overall, people with Asperger syndrome are capable of functioning in everyday life, but tend to be somewhat socially immature and may be seen by others as odd or eccentric. Adults with Asperger syndrome have trouble demonstrating empathy for others, and social interactions are difficult. The symptoms can wax and wane over time. Early intervention has been shown to be helpful.
• Although children with Asperger syndrome may have problems with attention span and organization, and have skills that seem well developed in some areas and lacking in others, they usually have average and sometimes above-average intelligence.
• Behavior: People with Asperger syndrome display behavior, interests, and activities that are restricted and repetitive and may be abnormally intense or focused. Patients typically develop specific routines or rituals and become highly disturbed if their schedules are even slightly changed. Patients may develop very specific interests, such as calendar dates or numbers. Children with Asperger syndrome may become proficient in knowing categories of information, such as baseball statistics or Latin names of flowers. While they are able to memorize things, they have difficulty with abstract concepts. Although these special interests may change from time to time, they typically become more unusual and narrowly focused.
• Unlike the severe withdrawal from the rest of the world that is characteristic of autism, patients with Asperger syndrome are isolated because of their poor social skills and narrow interests. They may approach other people but cannot maintain a normal conversation due to inappropriate or eccentric behavior or because they want to talk exclusively about their singular interest.
• The lack of demonstrated empathy may be the most dysfunctional aspect of Asperger syndrome. This aspect may result in failure to develop friendships or enjoy spontaneous interests or achievements with others, lack of social or emotional reciprocity, and impaired nonverbal behaviors such as eye contact and facial expression.
• People with Asperger syndrome often have limited facial expressions and have difficulty reading the body language of others. They may develop abnormal posture or may walk on their toes. Many move clumsily, have poor coordination, and are unusually sensitive to touch, sound, or light.
• People with Asperger syndrome may perform hand movements such as flapping or twisting and may have complex whole-body movements. These are typically repeated in longer bursts and look more voluntary or ritualistic than tics, which are usually faster, less rhythmic, and less symmetrical.
• Communication/social skills: Asperger syndrome affects a person's ability to socialize and communicate effectively with others. Desire for companionship can be complicated by a string of failed social encounters. They usually want to fit in and have interaction with others but simply don't know how. They may be socially awkward, take figures of speech literally, or be unable to understand conventional social rules. They may have limited eye contact, a stiff gaze, and inappropriate facial expressions. They may seem to be unengaged in a conversation and to not understand the use of gestures.
• Patients with Asperger syndrome often initiate one-sided, long-winded conversations, without noticing if the listener is listening or trying to change the subject. They have difficulty understanding or empathizing with the feelings of those around them. They have a hard time understanding humor and may appear insensitive. Asperger syndrome patients often speak in a voice that is monotonous, rigid, or unusually fast.
• Children with Asperger syndrome want to know everything about their specific topic of interest. Their conversations with others will be about little else and may bore the listener without reaching a logical conclusion. Their expertise, high level of vocabulary, and formal speech patterns make them seem like "little professors."
• Emotion: Asperger syndrome patients may be unaware of others' feelings or be unable to express their own emotions. Some patients may be noticeably anxious or become depressed or frustrated when they are unable to communicate to others.
• Intelligence: Most people with Asperger syndrome possess average to above average intelligence. Some people with Asperger syndrome may be considered savants and have exceptional skills, such as in math or art. They may have problems with reading or writing skills but an obsession with complex topics such as patterns or music.
• Language: One of the major differences between Asperger syndrome and autism is that there is no speech delay in Asperger syndrome. Children with Asperger syndrome frequently have excellent language skills and an advanced vocabulary at an early age. However, they use this language in different ways. Speech patterns may be unusual, lack inflection, have a rhythmic nature, or may be formal, too loud, jerky, or high pitched. People with Asperger syndrome may not understand irony and humor or the give-and-take nature of conversation.
• Although Asperger syndrome patients typically have strong verbal and grammar skills, they usually have other language problems. For example, they may be too literal and may have difficulties understanding non-verbal communications, such as body language.
• Neurological function: Children with Asperger syndrome frequently have motor skill delays and may appear clumsy or awkward. They may have poor coordination and may have a stilted or bouncy walk. Many people with Asperger syndrome are highly active in early childhood and then develop anxiety or depression in young adulthood. Asperger syndrome patients often have excellent auditory and visual perception. They may have problems with awareness of body position, balance, walking posture, and finger-thumb apposition. They may not be able to describe their own emotions and may be unusually sensitive to sound, light, touch, texture, taste, smell, pain, temperature, and other stimuli.
• Sleep: Children with Asperger syndrome often have sleep problems, including difficulty in falling asleep, frequent awakenings, and early morning awakenings.

• General: Asperger syndrome varies widely in severity and signs, which makes diagnosis difficult. Young patients function well in most aspects of life, which may make it easy to attribute their strange behaviors to just being different. Diagnosis is most commonly made between the ages of four and eleven. There is currently no specific test designed for diagnosis.
• Many children with Asperger syndrome are first misdiagnosed with another problem, such as attention-deficit/hyperactivity disorder (ADHD) or an emotional-behavior disorder. Some children with undiagnosed Asperger syndrome are labeled as troublemakers and get held back in school. Children with Asperger syndrome who are diagnosed and treated early in life have an increased chance of being successful in school and eventually living independently. Delayed or mistaken diagnosis can be traumatic for individuals and families. For example, misdiagnosis can lead to medications that worsen behavior.
• The number of children diagnosed with autism spectrum disorders has increased over the years. It is unclear whether more children are developing the disorders or if doctors have become better at recognizing the symptoms. Some doctors believe that Asperger syndrome is not a separate and distinct disorder. Instead, they call it high-functioning autism (HFA) and view it as being on the mild end of the autism spectrum disorders with symptoms that differ only slightly from classic autism.
• A team of specialists may be consulted to definitively diagnose Asperger syndrome. This team may include a psychologist, neurologist, psychiatrist, speech therapist, developmental pediatrician, speech and language pathologists, an occupational therapist, social worker, and physical therapist.
• Observation: The first step to diagnosis is by having a specialist observe the child, talk with family members about their observations and interactions, and understand the child's social interaction, communication skills, and friendships. It may be helpful for the patient's family members to record observations of behaviors that seem abnormal.
• A psychological evaluation and assessment of communication skills may be conducted to determine which of a child's strengths and skills may be deficient. A psychosocial evaluation includes a careful history of when symptoms were first recognized, the child's development of motor skills and language patterns, and other aspects of personality and behavior (including favorite activities, unusual habits, and preoccupations). Emphasis is placed on social development, including past and present problems in social interaction and development of friendships.
• Screening tests: Tests may be done to rule out other conditions that may have similar symptoms, such as deafness. The diagnosis of classic autism will generally be ruled out first. Some healthcare providers use screening tests, including the checklist for autism in toddlers (CHAT) or the autism screening questionnaire, to determine whether or not a patient has autism. CHAT is a 16-question survey in which parents or caregivers respond "yes" or "no" to questions about their children's behavior. This test helps healthcare providers diagnose autism in patients who are 18 months of age or younger. The autism screening questionnaire, also called the pervasive development disorder (PDD) assessment scale, is a brief survey in which parents or caregivers rate the patient's developmental difficulties as nonexistent, resolved, mild, moderate, or severe. This test helps healthcare providers diagnose autism in patients who are four years old or older. Other testing may include speech, language, visual-motor problem solving, neurologic and genetic assessment, and determination of intelligence quotient (IQ).
• Physical examination: During a physical examination, a healthcare provider will observe specific behaviors. The healthcare provider typically looks to see how the child responds to commands or questions. An assessment of communication strengths and weaknesses may include evaluating non-verbal forms of communication (gaze and gestures); the use of non-literal language (metaphor, irony, and humor); patterns of inflection; stress and volume modulation; turn-taking and sensitivity to verbal cues; and the content, clarity, and coherence of conversation.
• Diagnostic criteria: To be diagnosed with Asperger syndrome, a person must have normal language development and normal intelligence. The individual must have impaired social interaction and repetitive and stereotyped behaviors and interests without significant delay in language or cognitive development. Other criteria include abnormal eye contact, aloofness, the failure to turn when called by name, the failure to use gestures to point or show, a lack of interactive play, and a lack of interest in peers. However, there is no standard set of diagnostic criteria that is used universally, which can result in different diagnoses from different doctors.

• Anxiety and depression have been observed in about 65% of Asperger syndrome patients. Studies of children with Asperger syndrome suggest that their problems with socialization and communication develop into psychiatric symptoms and disorders in adolescence and adulthood.
• Other diseases associated with Asperger syndrome include neurological disorders such as epilepsy, nonverbal learning disorders, tics, Tourette syndrome, and bipolar disorder.

• General: Currently, there is no known cure for Asperger syndrome. However, many treatments and therapies may help patients cope with the disorder. It is important to include teachers, caregivers, and family members in the treatment process. With proper therapy, some patients are able to live independently once they become adults.
• The best treatment for Asperger syndrome coordinates therapies that address poor communication skills, obsessive or repetitive routines, and clumsiness. There is no single treatment plan for all Asperger syndrome patients, but it is considered that the earlier the intervention, the better. It is highly recommended that children receive intervention involving behavior management and educational and social training while the brain is still developing. An effective treatment program builds on the child's interests, offers a predictable schedule, teaches tasks as a series of simple steps, actively engages the child's attention in highly structured activities, and provides regular reinforcement of behavior. Most people with Asperger syndrome respond well to structured schedules or routines.
• Many different specialists, including speech and language pathologists, social workers, psychologists, psychiatrists, and neurologists may help to decide the best treatment options. It is important to note that different professionals will have different philosophies for the treatment of people with Asperger syndrome. Parents or caregivers may want to meet with several specialists to find the one that meets the individual needs of both the caregiver(s) and the patient. Many different programs are available to help address the social, language, and behavioral problems associated with Asperger syndrome.
• Behavioral therapy: For more than 30 years, several different types of behavioral therapy have helped patients with autism spectrum disorders to improve their communication and social skills, as well as their learning abilities and adaptive behaviors. Behavioral therapy has been shown to reduce inappropriate behavior. Evidence suggests that behavioral therapy is most effective if it is started early in life.
• Many children with Asperger syndrome can learn the unwritten rules of socialization and communication when taught in an explicit and rote fashion. They may also learn how to speak in a more natural rhythm and how to interpret communication techniques, such as gestures, eye contact, tone of voice, humor, and sarcasm.
• Cognitive behavioral therapy is a type of "talk" therapy that teaches Asperger patients how to control their emotions better and cut back on obsessive interests and repetitive routines. This type of therapy also targets problem behaviors, such as interrupting, obsessions, meltdowns or angry outbursts, and helps patients develop skills such as recognizing feelings and coping with anxiety. Cognitive behavioral therapy usually focuses on training a child to recognize a troublesome situation and then selecting a specific learned strategy to cope with the situation.
• Applied behavior analysis (ABA) is a type of highly structured therapy used to improve the patient's behavior and teach skills to help the person handle specific situations. The therapist uses positive reinforcement, which means the patient is rewarded when he or she behaves appropriately. The therapist usually works one-on-one with the patient and collaborates with the parents or caregivers, teachers, and others in the patient's life to provide individualized treatment.
• Social skills training is a form of group therapy that teaches children with Asperger syndrome the skills they need to interact more successfully with other children.
• Education: Asperger syndrome patients must receive education that is tailored to their specific strengths and weaknesses. According to the Individuals with Disabilities Education Act, all children with disabilities, including autism spectrum disorders, must receive free and appropriate education. According to the law, members of the patient's school should consult with the patient's parents or caregivers to design and write an individualized education plan. Once all parties agree with the plan, the educational program should be started. The school faculty should document the child's progress in order to ensure that the child's needs are being met.
• Educational programs vary among patients. In general, most experts believe that children with Asperger syndrome should be educated alongside their non-disabled peers. The idea is that non-disabled students will help the patient learn appropriate behavioral, social, and language skills. Some Asperger syndrome patients are educated in mainstream classrooms and others attend public schools but take special education classes. Others attend specialized schools that are designed to teach children with disabilities.
• Medication: There are currently no known medications specifically designed to treat Asperger syndrome. However, some medications may improve specific behaviors, such as anxiety, depression, or hyperactivity that may occur. Medication can be effective in combination with behavioral interventions. Parents and caregivers should talk with the patient's healthcare providers about the potential side effects and benefits of medications before starting treatment. Antidepressants may help improve depression, obsessive-compulsive disorder (OCD), and/or anxiety in some autistic patients. They may reduce repetitive behaviors, tantrums, aggression, and irritability in patients. Drugs called selective serotonin reuptake inhibitors (SSRIs) are the most common type of antidepressants used. Commonly prescribed SSRIs include fluoxetine (Prozac®), fluvoxamine (Luvox®), sertraline (Zoloft®), and paroxetine (Paxil®). Side effects of SSRIs may include nausea, loss of appetite, diarrhea, anxiety, irritability, problems sleeping, drowsiness, loss of sexual desire or ability, headaches, dizziness, and weight gain. Less commonly prescribed antidepressants include clomipramine (Anafranil®), mirtazapine (Remeron®), amitriptyline (Elavil®), and bupropion (Wellbutrin®).
• Antipsychotic drugs have been used to help treat aggressive and repetitive behaviors, as well as hyperactivity in autistic patients. Commonly prescribed drugs include risperidone (Risperdal®), olanzapine (Zyprexa®), and quetiapine (Seroquel®). The side effects of antipsychotic drugs are similar to those of SSRIs.
• Stimulants, such as methylphenidate (Ritalin®) and amphetamines (Adderall® or Dexedrine®), may help treat hyperactivity and/or attention-deficit/hyperactivity disorder (ADHD), which are often associated with Asperger syndrome. These drugs help improve concentration and reduce overactivity. Side effects associated with taking stimulants may include anorexia, insomnia, irritability, headache, and stomachache.
• Occupational therapy: Asperger syndrome patients may benefit from occupational therapy. During sessions, a therapist helps the child to become desensitized to stimuli to which they're overly sensitive. Parents and caregivers can ask their children's pediatricians for recommended therapists.
• Speech-language therapy: Some patients with Asperger syndrome may benefit from speech-language therapy to help them with the pragmatics of speech, which include the give and take of normal conversation. During speech-language therapy, a qualified speech-language professional (SLP) works with the patient on a one-to-one basis, in a small group, or directly in a classroom, to help the patient improve speech, language, and communication skills. Programs are tailored to the patient's individual needs.
• Speech pathologists use a variety of exercises to improve the patient's communication skills. Exercises typically start off simple and become more complex as therapy continues. For instance, the therapist may ask the patient to name objects, tell stories, or explain the purpose of an object. On average, patients receive five or more hours of therapy per week for three months to several years. Doctors typically recommend that treatment is started early to ensure the best possible prognosis for the child.

Note
: Currently, there is limited scientific data on the use of integrative therapies for the treatment or prevention of Asperger syndrome. The integrative therapies listed below should be used only under the supervision of a qualified healthcare provider and should not be used in replacement of other proven therapies.

B

Good scientific evidence

• Music therapy
  : Music is an ancient tool of healing that was recognized in the writings of Pythagoras, Aristotle, and Plato. Music is used to influence physical, emotional, cognitive, and social well-being and improve quality of life for healthy people, as well as those who are disabled or ill. It may involve listening to or performing music, with or without the presence of a music therapist. Autistic patients often show a heightened interest and response to music. This may aid in the teaching of communication skills (both verbal and nonverbal) and in establishing normal developmental processes. A recent meta-analysis of music therapy showed significant improvements compared to placebo in verbal and gestural communication but not in behavioral problems.

C

Unclear or conflicting scientific evidence

• Massage
  : Massage may help improve sleep patterns, induce relaxation, and improve behavior patterns in autism. However, there is currently not enough data on which to base firm recommendations for this condition.

D

Fair negative scientific evidence

• Vitamin B6
  : Vitamin B6, also called pyridoxine, is needed for the body to produce important chemicals in the brain, including serotonin and norepinephrine. It is also important for the body to maintain a healthy myelin sheath, which is a fat-like substance that covers the nerves. Major sources of vitamin B6 include cereal grains, beans, vegetables (such as carrots, spinach, peas, potatoes), milk, cheese, eggs, fish, liver, meat, and flour. Studies of vitamin B6 supplementation alone or in combination with the trace element magnesium have not been shown to benefit autistic patients.
• Some individuals seem to be particularly sensitive to vitamin B6 and may have problems at lower doses. It is recommended to avoid excessive dosing. Vitamin B6 is likely safe when taken by mouth in doses that do not exceed the recommended dietary allowance (RDA). The RDA for pregnant women is 1.9 milligrams per day. There is some concern that high-dose pyridoxine taken by a pregnant mother can cause seizures in a newborn. The RDA in breastfeeding women is 2 milligrams per day.

• Currently, there is no known method of prevention of Asperger syndrome. Early diagnosis and prompt treatment has been shown to help improve the long-term prognosis of the disease.