Autism

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Autism is the most common condition in a group of developmental disorders known as the autism spectrum disorders (ASDs). Autistic children have difficulties with social interaction and verbal and nonverbal communication, and exhibit repetitive behaviors or narrow, obsessive interests. Autism varies widely in its severity, with symptoms ranging from mild to severe. In some cases the disorder may go unrecognized. Scientists aren’t certain what causes autism, but it’s likely that both genetics and environment play a role.

Autism and the brain. Source:NIH


Contents

Other Names

Signs and Symptoms

Children with autism generally have problems in three crucial areas of development — social interaction, language, and behavior. But because the symptoms of autism vary greatly, two children with the same diagnosis may act quite differently and have strikingly different skills. Many children show signs of autism in early infancy. Other children may develop normally for the first few months or years of life but then suddenly become withdrawn, aggressive, or lose language skills they've already acquired. Though each child with autism is likely to have a unique pattern of behavior, these characteristics are common signs of the disorder:

  • Impaired ability to make friends with peers
  • Impaired ability to initiate or sustain a conversation with others
  • Absence or impairment of imaginative and social play
  • Stereotyped, repetitive, or unusual use of language
  • Restricted patterns of interest that are abnormal in intensity or focus
  • Preoccupation with certain objects or subjects
  • Inflexible adherence to specific routines or rituals

Causes

There is no single known cause of autism. Contributing causes may include: [1].

  • Genetics: There is convincing evidence that autism is a heritable disorder. The identity and number of genes involved remain unknown.
  • Environmental: Epidemiologic studies indicate that environmental factors such as toxic exposures, teratogens, perinatal insults, and prenatal infections such as rubella and cytomegalovirus account for few cases.
  • Toxic exposure: Studies done to date fail to find evidence that immunizations with the measles-mumps-rubella vaccine are responsible for the surge in autism. There has been considerable controversy about a possible toxic or heavy metal (especially mercury) component to autism.

Sam Wang (Neuroscientist, Princeton University) explores the state of autism prevention and therapy in this BigThink video "The Autistic Brain": Video at Bigthink



Diagnosis

The diagnostic criteria for autistic disorder (from the Diagnostic and Statistical Manual of Mental Disorders (Fourth Edition---Text Revision) (DSM-IV-TR) [2]:

A total of six (or more) items from (1), (2), and (3), with at least two from (1), and one each from (2) and (3):

1. Qualitative impairment in social interaction, as manifested by at least two of the following:

  • Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction
  • Failure to develop peer relationships appropriate to developmental level
  • A lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by a lack of showing, bringing, or pointing out objects of interest)
  • Lack of social or emotional reciprocity

2. Qualitative impairments in communication as manifested by at least one of the following:

  • Delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)
  • In individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others
  • Stereotyped and repetitive use of language or idiosyncratic language
  • Lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level

3. Restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following:

  • Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus
  • Apparently inflexible adherence to specific, nonfunctional routines or rituals
  • Stereotyped and repetitive motor manners (e.g., hand or finger flapping or twisting, or complex whole-body movements)
  • Persistent preoccupation with parts of objects

Delays or abnormal functioning in at least one of the following areas, with onset prior to three years of age: (1) social interaction, (2) language as used in social communication, or (3) symbolic or imaginative play.

The disturbance is not better accounted for by Rett’s Disorder or Childhood Disintegrative Disorder.


Recognizing a problem early for developmental disabilities such as autism is key for parents and providers. CDC realized the impact on families and invested in a campaign to help parents measure their children's progress by monitoring how they play, learn, speak and act.

Watch this video, "Baby Steps: Learn the Signs. Act Early." to learn more:
Video at YouTube

Treatment

There is no cure for autism. Therapies and behavioral interventions are designed to remedy specific symptoms and can bring about substantial improvement. The ideal treatment plan coordinates therapies and interventions that target the core symptoms of autism: impaired social interaction, problems with verbal and nonverbal communication, and obsessive or repetitive routines and interests. Most professionals agree that the earlier the intervention, the better. Treatment options for autism include:

Medications

Doctors often prescribe an antidepressant medication to handle symptoms of anxiety, depression, or obsessive-compulsive disorder. Anti-psychotic medications are used to treat severe behavioral problems. Seizures can be treated with one or more of the anticonvulsant drugs. Stimulant drugs, such as those used for children with attention deficit disorder (ADD), are sometimes used effectively to help decrease impulsivity and hyperactivity.

Therapies

The National Institute of Mental Health says that psychosocial and behavioral interventions are key parts of comprehensive treatment programs for children with autism. Some of the most common interventions include:

  • Applied behavior analysis (ABA): the science of applying experimentally derived principles in order to improve behavior.
  • Discrete trial training (DTT): directly training a variety of skills that individuals with disabilities may not pick up naturally
  • Early intensive behavioral intervention (EIBI): a structured approach to teaching which is carefully designed and follows specific patterns of instruction. It is based on well-studied principals of human learning and designed primarily for young children (ranging from 3 to 14 years of age) whose clinical diagnoses falls along the autism spectrum and/or who present significant behavioral challenges. [3]
  • Incidental teaching: structuring and sequencing education in order to take advantage of interests and motivation.
  • Pivotal response training (PRT): a treatment based on the principals of applied behavior which focuses on choices and direct reinforcement.
  • Verbal behavior intervention (VBI): a form of EIBI which uses language and verbal behavoir.
  • Developmental, individual differences, relationship-based approach (DIR/Floortime Model): focuses on helping children master the building blocks of relating, communicating and thinking, rather than on symptoms alone. [4]
  • Relationship development intervention (RDI): a parent-centered treatment program which is intended to help lay missing pathways in the brain.
  • Treatment and education of autistic and communication- related handicapped children (TEAACH): provides training and services designed to help patients and families deal with the condition of autism.

Therapies often used with those listed previously:

  • Occupational Therapy
  • Sensory Integration Therapy
  • Speech Therapy
  • The Picture Exchange Communication System (PECS): a program designed to teach communication using nonverbal cues.

Holistic and alternative treatments

There is no known cure for autism. To relieve the symptoms of autism, some parents and providers may use treatments that are outside of what is typically recommended by their pediatrician. These types of treatments are known as complementary and alternative treatments or CAM. They may include special diets, chelation (a treatment to remove heavy metals like lead from the body), biologicals (e.g., secretin), or body-based systems (like deep pressure). [5]

These types of treatments are controversial. Current research shows that as many as one third of children with autism may have tried complementary or alternative medicine treatments, and up to 10% may be using a potentially dangerous treatment. [6]

Many biomedical interventions call for changes in diet. Such changes include removing certain types of foods from a child’s diet and using vitamin or mineral supplements. Dietary treatments are based on the idea that food allergies cause symptoms of autism or that the lack of a specific vitamin or mineral may cause some autistic symptoms. Some parents feel that changes in their child’s diet may make a difference in how the child feels or acts. A diet that some parents have found to be helpful for their autistic child is a gluten-free, casein-free diet. Gluten is a substance that is found in the seeds of various cereal plants—wheat, oat, rye, and barley. Casein is the principal protein in milk. A supplement that some parents feel is beneficial for an autistic child is Vitamin B6, taken with magnesium (which makes the vitamin effective). The results of research studies are mixed. Some children get better, some get worse, and some change not at all or very little.

Living with Autism

A child’s autism diagnosis affects every member of the family in different ways. Parents must now place their primary focus on helping their child with ASD, which may put strains on their marriage, other children, work, finances, and personal relationships and responsibilities. The needs of a child with ASD complicates familial relationships, especially with siblings. However, parents can help their family by informing their other children about autism and the complications it introduces, understanding the challenges siblings face and helping them cope, and involving members of the extended family to create a network of help and understanding. [7]

There are many organizations that can provide helpful information about autism. These include:

  • The Sibling Support Project of The Arc of the United States [8], based in Seattle, Washington, offers a range of information on siblings of children with disabilities, including: reading lists for children and adults, information on local sibling group meetings, information on facilitating sibling discussion groups, and online resources.
  • The New Jersey Center for Outreach and Services for the Autism Community (COSAC) [9] matches siblings with pen pals around the country as well as internationally. Online resources are also available. For example, a chat room for siblings of children with disabilities, called "SibChat," meets periodically.

While growing up as the sibling of someone with autism can certainly be trying, most siblings cope very well. It is important to remember that while having a sibling with autism or any other disability is a challenge to a child, it is not an insurmountable obstacle. Most children handle the challenge effectively, and many of them respond with love, grace and humor far beyond their years. A final resource to consider for siblings, particularly for those who are experiencing difficulty in adapting to the disability, would be individual counseling.

Chances of Developing Autism

The prevalence of autism was estimated at 13 per 10,000 in the United States in 2005. [10]

Related Problems

  • Seizures: One in four children with autism develops seizures, often starting either in early childhood or adolescence. [11] 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 approximately 2% to 5% of people with autism [12]
  • 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 autism. Between 1% and 4% of people with autism also have tuberous sclerosis. [13]

Clinical Trials

A list of clinical trials is available at: Clinical Trials.gov autism trials

Research

Recently completed studies relating to autism include:

  • Whether galantamine, a medication used in the treatment of Alzheimer's disease, is an effective treatment modality for childhood autism. [14]
  • Whether divalproex sodium (DS) (a medicine used to treat epilepsy) is an effective treatment for childhood autism. [15]
  • The efficacy of Nambudripad's Allergy Research Foundation procedures (an alternative treatment) in the treatment of autism. [16]
  • Using tongue acupuncture (an alternative treatment) to treat autism. [17]
  • Advanced maternal-grandpaternal age as a possible risk factor for autism [18]

Future Research

  • Whether peer interaction training interventions are effective in enhancing the social relationships of children with autism. [19]
  • Whether human immunoglobulin given by mouth twice a day is effective in treating the persistent gastrointestinal (GI) problems such as diarrhea, constipation, abdominal pain, and bloating, in children with autism. [20]
  • Whether D-cycloserine is effective in reducing symptoms of autism in autistic children. [21]
  • Identifying factors that distinguish children with autism from children with developmental delay and those with normal development and study the efficacy of intensive behavioral therapy in children with autism. [22]

Controversy

Vaccines

In the past few years, there has been public interest in a theory that suggested a link between measles-mumps-rubella (MMR) vaccine, and autism. Some have suggested that this was associated with the use of thimerosal, a mercury-based preservative. However thimerosal is no longer found in childhood vaccines in the United States, and was never a component of the UK's MMR vaccine - were the discredited theory originated. Many robust large-scale epidemiological studies have now been done that have failed to show a link between MMR vaccine and autism, and virological studies have also undermined the original research which raised concerns. A panel from the Institute of Medicine is now examining these studies, including a large Danish study that concluded that there was no causal relationship between childhood vaccination using thimerosal-containing vaccines and the development of an autism spectrum disorder [23]


Paul Nurse (President of Rockefeller University, Nobel Laureate, and Biochemist) says that if you make incorrect assumptions in analysis, things can go bad quickly for public health in this BigThink video "Diagnosis is Not Enough, Measuring Medical Outcomes is Critical": Video at Bigthink

Heavy metals and chelation

Chelation, the process of administering chemical chelating agents that bind to metals in the body and allow the resulting complex to be eliminated though the liver or kidneys, has become a controversial treatment for autism spectrum disorders. The theory is that chelation will remove the heavy metals that result from environmental exposure or possibly from vaccines. Studies are ongoing, including the following:

  • A U.S. study looking at exposure to mercury, lead, and other heavy metals showed only one elevated (mercury) level which was reduced into the normal range when fish was removed from the child's diet. [24]
  • The National Institutes of Health recently suspended a study involving mercury chelation to treat autism. [25]

Expected Outcome

For many children, autism symptoms improve with treatment and with age. Some children with autism grow up to lead normal or near-normal lives. Children whose language skills regress early in life, usually before the age of three, appear to be at risk of developing epilepsy or seizure-like brain activity. During adolescence, some children with autism may become depressed or experience behavioral problems. Parents of these children should be ready to adjust treatment for their child as needed.

As they mature, some children with autism become more engaged with others and show less marked disturbances in behavior. Some, usually those with the least severe problems, eventually may lead normal or near-normal lives. Others, however, continue to have great difficulty with language or social skills, and the adolescent years can mean a worsening of behavior problems.

The majority of children with autism are slow to acquire new knowledge or skills and some have signs of lower than normal intelligence. Other children with autism have normal to high intelligence. These children learn quickly yet have trouble communicating, applying what they know in everyday life and adjusting in social situations. An extremely small number of children with autism are "autistic savants" and have exceptional skills in a specific area, such as art, math or music.

History

Autism was first identified as a specific disorder in 1943 by child psychiatrist Dr. Leo Kanner (1894-1981). Based on a study of 11 children, Dr. Kanner published the first description of what he called “Autistic Disturbances of Affective Contact" (The Nervous Child, New York, 1943, 2: 217-250.)

Interesting Facts

Famous people

There are several celebrities who have children with autism and who have been active and vocal about the condition:

  • Doug Flutie (former professional football player and current college football analyst) has a son with autism and has started an organization: the Doug Flutie, Jr. Foundation for Autism.
  • Actresses Jenny McCartney and Holly Robinson-Peete, who both have sons with autism, have both spoken in public on the subject of autism. McCartney has written a book entitled Louder Than Words: A Mother's Journey in Healing Autism.

Notable Experts

Organizations

The ATN is the nation's first network of hospitals and physicians dedicated to improving medical care for children and adolescents with autism. [26]. Institutions participating in the ATN are:

  • Massachussetts General Hospital (Boston, MA)
  • ATN Data Coordinating Center, EMMES Corporation (Rockville, MD)
  • University of Arkansas and Arkansas Children's Hospital (Little Rock, AR)
  • Kaiser Permanente Medical Care Program Northern California (San Jose, CA)
  • University of Colorado Denver, School of Medicine and The Children's Hospital (Denver, CO)
  • Kennedy Krieger Institute (Baltimore, MD)
  • LADDERS/Mass General Hospital (Boston, MA)
  • University of Missouri (Columbia, MO)
  • Columbia University Medical Center (New York, NY)
  • University of Rochester (Rochester, NY)
  • Cincinnati Children's Hospital Medical Center (Cincinnati, OH)
  • Bloorview Kids Rehab, Surrey Place Centre and The Hospital for Sick Children (Toronto, ON, Canada)
  • Oregon Health & Science University (Portland, OR)
  • University of Pittsburgh (Pittsburgh, PA)
  • Vanderbilt University Medical School (Nashville, TN)
  • Baylor College of Medicine (Houston, TX)
  • University of Washington (Seattle, WA)

References

  1. Muhle R, Trentacoste SV, Rapin I. The genetics of autism. Pediatrics. 2004 May;113(5):e472-86. Abstract | Full Text
  2. American Psychiatric Association. (2000). Pervasive developmental disorders. In Diagnostic and statistical manual of mental disorders (Fourth edition---text revision (DSM-IV-TR). Washington, DC: American Psychiatric Association, 69-70.
  3. Area Cooperative Educational Services web site. Early Intensive Behavioral Intervention (EIBI)
  4. The Floortime Foundation web site. Our Approach
  5. Gupta VB. Complementary and Alternative Medicine. Pediatric Habilitation, volume 12. New York Medical College and Columbia University, 2004.
  6. Levy SE, Mandell DS, Merhar S, Ittenbach RF, Pinto-Martin JA. Use of complementary and alternative medicine among children recently diagnosed with autistic spectrum disorder. J Dev Behav Pediatr. 2003 Dec;24(6):418-23. Abstract
  7. Autism Society of America. Family Issues
  8. The Sibling Support Project website. [1]
  9. New Jersey Center for Outreach and Services for the Autism Community web site. Home Page
  10. Fombonne E. Epidemiology of autistic disorder and other pervasive developmental disorders. J Clin Psychiatry. 2005;66 Suppl 10:3-8. Abstract
  11. Canitano R, Luchetti A, Zappella M. Epilepsy, electroencephalographic abnormalities, and regression in children with autism. J Child Neurol. 2005 Jan;20(1):27-31. Abstract
  12. Brown WT, Jenkins EC, Cohen IL, et al. Fragile X and autism: a multicenter survey. Am J Med Genet. 1986 Jan-Feb;23(1-2):341-52. Abstract
  13. Smalley SL. Autism and tuberous sclerosis. J Autism Dev Disord. 1998 Oct;28(5):407-14. Abstract
  14. Clinicaltrials.gov. Galantamine Versus Placebo in Childhood Autism
  15. ClinicalTrials.gov. Divalproex Sodium vs. Placebo in Childhood/Adolescent Autism
  16. ClinicalTrials.gov. Treatment of Autistic Children Using NAET Procedures
  17. ClinicalTrials.gov. Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation
  18. ClinicalTrials.gov. Advanced Grandparental Age as a Risk Factor for Autism
  19. ClinicalTrials.gov. Relationship Training for Children With Autism and Their Peers
  20. ClinicalTrials.gov. Safety and Efficacy Study in the Treatment of Intestinal Problems Associated With Autism
  21. Clinicaltrials.gov. Safety and Effectiveness of D-Cycloserine in Children With Autism
  22. ClinicalTrials.gov. http://clinicaltrials.gov/ct2/show/NCT00090415?term=autism&rank=24 Early Characteristics of Autism]
  23. Hviid A, Stellfeld M, Wohlfahrt J, Melbye M. Association between thimerosal-containing vaccine and autism. JAMA. 2003; 290(13): 1763-1766. Abstract | Full Text
  24. Soden SE, Lowry JA, Garrison CB, Wasserman GS. 24-hour provoked urine excretion test for heavy metals in children with autism and typically developing controls, a pilot study. Clin Toxicol (Phila). 2007 Jun-Aug;45(5):476-81.Abstract
  25. ClinicalTrials.gov: Mercury Chelation to Treat Autism
  26. Autism Speaks web site. Autism Treatment Network

External Links

Autism Society of America

Autism Research Institute

Interdisciplinary Council on Developmental & Learning Disorders, ICDL

Floortime

Autism Speaks

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