Autism is a brain disorder that is associated with a wide range of developmental problems, especially in communication and social interaction.
According to the American Psychiatric Association, autism is classified as a type of autism spectrum disorder (ASD). These disorders are characterized by problems with communication, social interaction, as well as unusual, repetitive behaviors.
Some professionals use a broader term, called pervasive development disorder (PDD), to describe autism. In addition to autism, there are four other disorders that qualify as PDDs: Asperger's syndrome, childhood disintegrative disorder, pervasive developmental disorder-not otherwise specified (PDD-NOS), and Rett syndrome.
The cause of autism remains unknown.
Although most children are not diagnosed with autism until they are around preschool age, the first signs of autism generally appear between 12 and 18 months of age. The severity of symptoms varies among patients. Some patients are able to live independently once they become adults, while others may need lifelong support.
A minority of autistic patients may also be considered savants. These patients are autistic but express extraordinary mental abilities in a very specific area. Autistic savants often have exceptional skills with numbers, art, or music. Not all savants are autistic. However, the number of autistic savants far exceeds the number of non-autistic savants.
As many as 1.5 million Americans may have autism. Researchers estimate that one to six out of every 1,000 children have autism. The number of children diagnosed with autism has increased over the years. However, it is unclear whether more children are developing the disorder or better diagnostic techniques have helped doctors identify the disorder in more patients.
For unknown reasons, boys are three to four times more likely to develop autism than girls.
In the 1940s, when autism was first described, most autistic patients were institutionalized. Today, however, most autistic patients are able to live with their families. Although there is currently no cure for autism, treatments and therapies have been shown to help autistic patients live healthy, relatively normal lives. Regardless of how severe the patient's symptoms are, appropriate treatment and education can help autistic patients become integrated into their communities.
General: Autistic patients generally experience developmental problems that affect their behavior, social skills, and language. The severity of symptoms varies among patients. Some patients may be able to live independently as adults, while others may require lifelong support. Patients with severe autism may be unable to communicate or interact with other people. The most severe autism occurs when the patient is completely unable to communicate or interact with others.
Children with autism may develop normally during the first few months or years of life. Then, usually before the age of three, patients become less responsive to others.
Behavior: Autistic patients may move constantly and/or perform repetitive movements, such as spinning or rocking. 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. They may also become preoccupied with certain parts of an object, especially if the object has a repetitive motion. Some patients may develop abnormal posture or may walk on their toes. Autistic patients may be unusually sensitive to touch, sound, or light. Some patients may be aggressive towards others or engage in behavior that hurts them, such as hitting their heads against the wall. Patients (adults and children) may throw temper tantrums, which may include yelling, crying, hitting, stomping of the feet, or flailing of the arms or legs. Patients may have short attention spans, abnormalities in eating or sleeping habits, or extreme overactivity or underactivity.
Communication/social skills: Autistic patients may appear deaf because they may not respond to their name or they may appear not to hear others talking. An autistic patient may avoid eye contact with others or be unable to properly use body language, facial expressions, or gestures. Autistic patients may resist cuddling and holding, appear unaware of others' feelings, or seem to prefer playing alone.
Emotion: Emotional symptoms vary considerably among autistic patients. Some 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. Some patients who express affection towards others may express this feeling indiscriminately.
Intelligence: Most children with autism are slow to learn new things or develop new skills. An estimated 75% of autistic patients have lower-than-normal intelligence quotients (IQs). However, the remaining 25% of patients have normal to high intelligence. Autistic patients with normal to high intelligence are quick learners, but still have difficulty communicating to others and applying their knowledge to everyday life. In rare cases, autistic patients may also be considered savants and have exceptional skills, such as math or art.
Language: While most children begin talking around the age of one year, autistic patients usually begin speaking at a later age. Patients may lose the ability to say words or sentences they were able to say in early childhood. Some patients may speak with an abnormal tone or rhythm. For instance, patients may use speech that sounds like a song or like a robot. Patients may be unable to start or maintain conversations with others. Patients may repeat words or phrases, but be unable to understand how to use them.
Neurological function: About 25-35% of autistic children experience seizures that may be resistant to medication. In most cases, children begin to experience the most seizures during early childhood and then again during adolescence. Autistic children who are mentally retarded or have a family history of autism have an increased risk of experiencing seizures.
General: There is currently no specific test designed to diagnose autism. Instead, a diagnosis is made after the healthcare provider evaluates the patient's signs and symptoms. The healthcare provider will also talk with family members about their observations and interactions with the child. It may be helpful for the patient's family members to record observations of behavior that seems abnormal.
In some cases, the healthcare provider may order tests to rule out other conditions that may have similar symptoms, such as mental retardation, genetic diseases, or deafness.
If a healthcare provider cannot make a clear diagnosis, he/she may recommend other professionals that specialize in developmental disorders. Specialists, such as developmental pediatricians, psychiatrists, psychologists, and/or neurologists, may be recommended. In addition, other specialists, such as experts that test hearing (audiologists), speech and language pathologists, occupational therapists, social workers, and physical therapists, may also help diagnose the patient.
Although most signs of autism begin to develop when the child is 12-18 months old, most diagnoses are made when the child is two to three years old.
Physical examination: During a physical examination, the healthcare provider will observe specific behaviors. The healthcare provider typically looks to see how the child responds to commands or questions.
Screening tests: 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 old 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.
General: Currently, there is no cure for autism. However, many treatments and therapies may help patients cope with the disorder. With proper therapy, some patients are able to live independently once they become adults, while others may need lifelong support.
Many different specialists, including speech or language pathologists, social workers, psychologists, psychiatrists, and neurologists, may help parents and caregivers decide the best treatment options for autistic patients. It is important to note that different professionals will have different philosophies for the treatment of the patient. 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.
In general, the traditional approach to treating autism includes behavioral therapy and special education. Many different programs are available to help address the social, language, and behavioral problems associated with autism.
Although no medication is specifically designed for autism, some patients may benefit from medications. However, medications do not treat the underlying cause of autism. Instead, they help treat the symptoms of the disorder. For instance, some patients may benefit from medications to help treat hyperactivity, short attention span, and seizures, which are often associated with autism. Parents and caregivers should talk with the patient's healthcare providers about the potential side effects and benefits of medications before starting treatment.
Anticonvulsants: Anticonvulsants are often used to treat seizures in autistic patients. These drugs may also help improve a patient's mood and/or behavior. These drugs are typically taken once daily to help prevent seizures from occurring. Phenobarbital (Luminal® Sodium) is one of the oldest and safest anticonvulsants for children. Valproic acid (Depakene® or Depakote®) has also been shown to be a safe and effective treatment for seizures in children.
Antidepressants: 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®). Less commonly prescribed antidepressants include clomipramine (Anafranil®), mirtazapine (Remeron®), amitriptyline (Elavil®), and bupropion (Wellbutrin®).
Antipsychotic drugs: 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®).
Behavioral therapy: The foundation of autism treatment is behavioral therapy. For more than 30 years, several different types of behavioral therapy have helped autistic patients improve their communication and social skills, as well as their learning abilities and adaptive behaviors. Behavioral therapy has been shown to reduce inappropriate behavior, including aggressive behavior, in autistic children. Evidence suggests that behavioral therapy is most effective if it is started early in life, when the patient is three to four years old or younger.
Applied behavior analysis (ABA) is a type of 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/she behaves appropriately. ABA is highly structured and it usually requires 15-40 hours of therapy per week. The therapist usually works one-on-one with the patient and collaborates with the parents/caregivers, teachers, and others in the patient's life to provide treatment that is individualized to meet the patient's needs.
Education: Autistic 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, 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 disabilities, including autism, 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. Therefore, some autistic patients are educated in mainstream classrooms. Other autistic patients attend public schools but take special education classes. Others attend specialized schools that are designed to teach children with disabilities.
An educational program, called floor time, is one approach used to teach autistic patients. This program is based on the idea that children cannot progress to advanced learning until they have completed all of the required steps of the developmental ladder.
Another approach, called social stories, uses story telling to teach children social skills. Each story is designed to help the patient understand the thoughts and emotions of the person in the story. This may help the patient understand appropriate behavioral and social responses to specific situations. The stories are tailored to the individual patient and often include music and pictures.
Lifestyle: Most children with autism respond well to structured schedules or routines.
Stimulants: 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 autism. These drugs help increase the patient's ability to concentrate and reduce the individual's overactivity.
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 either listening to or performing music, with or without the presence of a music therapist. Patients with autism 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 showed significant results compared to placebo for verbal and gestural communication but not for behavioral problems. Music therapy is generally known to be safe.
Unclear or conflicting scientific evidence:
L-Carnitine: There is insufficient evidence to support the use of carnitine in the treatment of hyperactive behavior of children with fragile -X syndrome. Fragile X syndrome (FXS), also called Martin-Bell syndrome, is the most common type of inherited intellectual disability, and autistic patients are more likely to have this disorder. Avoid with known allergy or hypersensitivity to carnitine. Use cautiously with peripheral vascular disease, hypertension (high blood pressure), alcohol-induced liver cirrhosis, and diabetes. Use cautiously in low birth weight infants and individuals on hemodialysis. Use cautiously if taking anticoagulants (blood thinners), beta-blockers, or calcium channel blockers. Avoid if pregnant or breastfeeding.
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 make conclusions in this condition. Avoid with bleeding disorders, low platelet counts, or if on blood-thinning medications (such as heparin or warfarin/Coumadin®). Areas should not be massaged where there are fractures, weakened bones from osteoporosis or cancer, open/healing skin wounds, skin infections, recent surgery, or blood clots. Use cautiously with a history of physical abuse or if pregnant or breastfeeding. Massage should not be used as a substitute for more proven therapies for medical conditions. Massage should not cause pain to the client.
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, 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 B6 supplementation alone or in combination with a trace element called magnesium have not been shown to benefit patients with autism.
Strong negative scientific evidence:
Folate: Folate (folic acid) supplementation has been shown not to improve symptoms of fragile X syndrome. Fragile X syndrome (FXS), also called Martin-Bell syndrome, is the most common type of inherited intellectual disability, and autistic patients are more likely to have this disorder.
Traditional or theoretical uses, which lack sufficient evidence:
Aortic acid: Aortic extract is typically manufactured from the hearts of animals, usually sheep, cows, or pigs. This extract contains many substances, including aortic acid. Traditionally, aortic acid has been used to treat autism. However, studies in humans have not been done to determine whether this treatment is safe or effective.
There are currently no reports of allergic reactions to aortic acid. Due to the heparan sulfate content of mesoglycan, patients with an allergy to heparan or heparinoid derivatives should use caution. Use cautiously with coagulation (blood) disorders or if taking anticoagulants. Use cautiously with high blood pressure or if taking antihypertensive drugs. Avoid if pregnant or breastfeeding
Art therapy: Art therapy involves many forms of art to treat anxiety, depression, and other mental and emotional problems. Art therapy became a mental health profession in the 1930s. Today it is practiced in hospitals, clinics, public and community agencies, wellness centers, educational institutions, businesses, and private practices. Art therapy has been suggested as a possible treatment for autism. However, studies have not been performed to determine whether this treatment is effective.
Art therapy may evoke distressing thoughts or feelings. Use under the guidance of a qualified art therapist or other mental health professional. Some forms of art therapy use potentially harmful materials. Only materials known to be safe should be used. Related clean-up materials (such as turpentine or mineral spirits) that release potentially toxic fumes should only be used with good ventilation.
Choline: Choline is an essential amino acid that is produced in the body and consumed in foods. The largest dietary source of choline is egg yolk. Choline is also found in liver, peanuts, fish, milk, brewer's yeast, wheat germ, soy beans, bottle gourd fruit, fenugreek leaves, shepherd's purse herb, Brazil nuts, dandelion flowers, poppy seeds, mung and other beans, and a variety of meats and vegetables, including cabbage and cauliflower. Although choline has been suggested as a possible treatment for patients with autism, human studies are lacking. Further research is warranted in this area.
Avoid if allergic or hypersensitive to choline, lecithin, or phosphatidylcholine. Use cautiously with kidney disorders, liver disorders, or trimethylaminuria. Use cautiously with a history of depression. If pregnant or breastfeeding, it seems generally safe to consume choline within the recommended adequate intake (AI) parameters; supplementation outside of dietary intake is usually not necessary if a healthy diet is consumed.
Massage: Many massage techniques have been practiced for thousands of years to promote well-being, relaxation, pain-reduction, stress-relief, musculoskeletal injury healing, sleep enhancement, and quality of life. Although massage has been suggested as a possible treatment for autism, human studies are lacking.
Avoid with bleeding disorders, low platelet counts, or if taking blood-thinning medications (anticoagulants). Areas should not be massaged where there are fractures, weakened bones from osteoporosis or cancer, open/healing skin wounds, skin infections, recent surgery, or blood clots. Use cautiously with a history of physical abuse or if pregnant or breastfeeding. Massage should not be used as a substitute for more proven therapies for medical conditions. Massage should not cause pain to the client.
Pantothenic acid (vitamin B5): Pantothenic acid (vitamin B5) is found in many foods, including meats, liver, kidney, fish/shellfish, chicken, vegetables, legumes, yeast, eggs, and milk. Pantothenic acid is needed for the body to breakdown carbohydrates (sugars), proteins, and fats. It is also needed for the body to produce hormones and cholesterol. Pantothenic acid has been suggested as a possible treatment for autism. However, further research is needed in order to determine if this is a safe and effective treatment in humans.
Avoid if allergic or hypersensitive to pantothenic acid or dexpanthenol. Avoid with gastrointestinal blockage. Pantothenic acid is generally considered safe in pregnant and breastfeeding women when taken at recommended doses.
Although autism appears to be related to abnormalities in the brain, the exact cause of the disorder remains unknown. Several theories have been suggested as possible causes. Most researchers believe that several factors are involved in the development of autism.
A person's genetic makeup may play a role in his/her risk of developing autism. Researchers have identified several gene abnormalities that are associated with autism. According to researchers, families with one autistic child have a three to eight percent chance of having a second child with the disorder.
Over the years, researchers have made significant advancements in understanding the genetics of autism.
Chromosomal studies and genome scans have pointed out several regions on chromosomes 2q,7q,6,q,15q, along with sex chromosomes that could play a role in autism. Scientists are now focusing their research on five different chromosomes: 2, 3, 7, 15, and X.
Chromosome 2: Studies have linked abnormalities in chromosome 2 and autism. Furthermore, some studies suggest that this link is even stronger when autistic patients also experience delayed speech.
Chromosome 3: Based on statistical evidence, the GABA transporter 1(GAT1)gene and oxytocin receptor(OXTR) gene, both located on genes on chromosome 3, may be linked to autism.
The GAT1 gene provides instructions for producing a protein that works with a chemical messenger in the brain called GABA. GABA is the primary chemical that relays messages between brain cells. When the GAT1 gene is mutated, improper or dysfunctional GABA is produced. Researchers believe that too much or improperly functioning GABA may over-stimulate the brain, leading to autistic behaviors.
The OXTR gene provides instructions for producing the oxytocin receptor protein. In humans, this oxytocin receptor is found in the brain, uterus, and mammary glands. In animal studies this gene seems to function in the brain during early development and is thought to help the brain develop. During animal studies, mice that had an overexpression of oxytocin developed repetitive behaviors. It is important to note however, that oxytocin may act differently in humans than mice.
Chromosome 7: Several genes on chromosome 7, including the wingless-related MMTV integration site 2 (WNT2), reelin (RELN), homeobox A1 (HOXA1), and homeobox B1 (HOXB1), have been linked to autism.
Chromosome 15: Abnormalities on chromosome 15 have also been implicated in some autism cases. Some patients with autism have been shown to have duplicate regions on chromosome 15. Researchers have found small DNA segments (called markers) on chromosome 15 that are more frequently observed in patients with autism compared to those without autism. This finding indicates that one or more genes on chromosome 15 may contribute to autism. However, the actual gene has not yet been found.
X Chromosome: Some evidence suggests that certain genes on the X chromosome may influence social interaction skills. The X and Y chromosomes determine the sex of a human. Males have one X and Y chromosome, while females have two X chromosomes. If there is a gene that is not functioning properly on one of the X chromosomes, females have the advantage of having an extra X chromosome, which often compensates for the abnormal chromosome. For males, this lack of spare X chromosomes explains why some disorders, known as X-linked disorders, are more common in males than females. More males have autism than females. Therefore, researchers suspect that there may be a gene on the X chromosome that is involved in autism. However, some studies have ruled out this theory as being the major cause of autism. Despite the lack of supporting evidence, it has been suggested that a gene on the X chromosome may affect social interaction and contribute to autistic behavior.
Although an individual's genetic makeup may influence the likelihood that they will develop the disorder, many other factors are also involved.
In some patients, autism has been linked to other medical conditions. For instance, autistic patients are more likely to have Fragile X syndrome (which causes mental retardation), tuberous sclerosis (which causes tumors to grow in the brain), epilepsy (which causes seizures), and Tourette's syndrome (which causes involuntary body movements).
It has also been suggested that vaccines, especially the measles-mumps-rubella (MMR) vaccine, as well as mercury-containing vaccines, may lead to autism. However, current scientific research has not found a link between vaccines and autism.
In the past, it was suggested that emotional trauma early in life increased a child's risk of developing autism. Traumatic events, such as physical abuse or neglect before the age of three, were thought to contribute to the development of the disorder. However, researchers no longer support this theory.
Asperger's syndrome: Patient's with Asperger's syndrome have many of the same symptoms as autistic patients, in terms of problems with social interaction and communication. However, patients with Asperger's syndrome 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).
Childhood disintegrative disorder: Childhood disintegrative disorder, also called Heller's syndrome, is a rare condition in which children develop normally until they are about three or four years old. However, as they get older, children begin to experience a dramatic loss of social and communication skills, as well as motor skills. Patients may also develop stereotypical movements, such as hand wringing or flapping. These patients may develop specific routines or rituals and they may not respond well to changes or transitions. Some patients may become catatonic, which means they maintain a fixed posture or body position.
Childhood disintegrative disorder is sometimes confused with late-onset autism because both of these disorders involve normal development followed by a loss of learned skills. However, autism generally occurs at an earlier age. Also, patients with childhood disintegrative disorder typically suffer from a much more dramatic loss of skills and greater likelihood of mental retardation than autistic patients.
Pervasive developmental disorder-not otherwise specified (PDD-NOS): Pervasive developmental disorder-not otherwise specified (PDD-NOS) is a term used to describe patients who meet most, but not all, of the criteria for a PDD. Although these patients have many of the same symptoms associated with a PDD, they cannot be definitively diagnosed with a specific type of PDD.
Rett syndrome: Rett syndrome is a progressive brain disorder that mostly affects females. Infants with Rett syndrome appear to develop normally at first, but over time, they stop developing and lose most of their previously developed skills. Eventually, these patients become intellectually disabled.
Symptoms of Rett syndrome become noticeable when the patient is between the ages of three months and three years old. Patients typically lose purposeful hand movements (e.g. reaching or grasping for things) and they are no longer able to speak. Patients have difficulty balancing and poor coordination. This often prevents the patient from walking on his/her own. Patients may develop stereotypical hand movements, such as hand wringing or clapping. Breathing problems, including hyperventilation, breath holding, or apnea, may develop. Patients may also develop anxiety and social behavioral problems.
Caring for an autistic patient can be emotionally and physically tiring at times. Caregivers or parents of an autistic patient should make time to relax and enjoy their favorite activities.
Siblings of an autistic child may feel left out or jealous of the attention that their brother or sister receives from their parents. Therefore, parents should make an effort to spend one-on-one time with their other children.
Caregivers may find support from other families who are caring for an autistic person. Many communities have local support groups for parents, family members, and caregivers of autistic patients.
Caregivers should educate themselves about autism. The more a caregiver knows about the condition, the better they can help the patient. Being educated on autism may also help the caregiver learn how to communicate better with the child.
The information in this monograph is intended for informational purposes only, and is meant to help users better understand health concerns. Information is based on review of scientific research data, historical practice patterns, and clinical experience. This information should not be interpreted as specific medical advice. Users should consult with a qualified healthcare provider for specific questions regarding therapies, diagnosis and/or health conditions, prior to making therapeutic decisions.