Autism

Definition

Autism is a behavior disorder, characterized by an impairment in social communication, social interaction, and social imagination. Those with autism often have a restricted range of interests and display repetitive behaviors and mannerisms, along with altered reactions to the everyday environment.

Description

In 1943, the American physician Leo Kanner published his seminal paper, in which he described 11 children who were socially isolated, with "autistic disturbances of affective contact," impaired communication, and behavioral inflexibility. He coined the term "infantile autism" and discussed the causes in terms of biological processes, although at that time, most scientific attention was focused on analytical theories of the disorder. Kanner's paper did not initially receive much scientific credit, and children with autistic symptoms continued to be incorrectly diagnosed with childhood schizophrenia . His choice of the term "autism" may have created some confusion, because the word was first used to describe a mental state of fantastical, self-centered thought processes, similar to the symptoms of schizophrenia.

During the development of the disorder, the first year of life is usually marked with no clear discriminating features. Between two and three years of age, children show impairment in language development, especially comprehension; unusual language usage; poor response to name calling; deficient non-verbal communication; minimal recognition or responsiveness to other people's happiness or distress; and limited variety of imaginative play or pretence, and especially social imagination.

During school age, children's abnormalities in language development (including muteness or the use of odd or inappropriate words), their social withdrawal, inability to join in with the play of other children, or inappropriate attempts at joint play often alert teachers and others to the possibility of an autistic type disorder. The manifestations of autism can also change with time during childhood, depending on other developmental impairments, personality, and the addition of medical or mental health problems.

Demographics

Autism is a disorder that affects predominantly males (four times as many males as females have autism). According to studies, autism is increasing in the pediatric population. In 1966, 4–5 babies per 10,000 births developed autism, while in 2003, two studies showed that between 14–39 babies per 10,000 develop the disorder. Although there is no question that more clinical cases are being detected, the increase in prevalence of autism is in dispute as diagnostic practices have changed over the years and this heightened awareness has changed the evaluation of previously unrecognized cases.

Causes and symptoms

Although autism is behaviorally defined, it is now well recognized to be the endpoint of several organic causes. These include prenatal problems such as rubella (measles) infection, untreated metabolic disorders, and anticonvulsant medication taken during pregnancy, as well as postnatal infections such as encephalitis. A specific medical cause is found in only a minority of people with autism (6–10%, depending on the study). Epilepsy occurs more commonly than usual in patients with this disorder

and was one of the early indications that this was a neurobiological problem and not one caused by parental behavior or the environment.

In most people with autism, genetic factors play a key role. Multiple genes are likely to be involved, and studies have identified possible candidate genes on chromosomes 2, 7, 16, and 19. Autism has been associated with some genetic abnormalities, especially on chromosome 15, and it is also found associated with the "fragile X syndrome." Despite the fact autism is now agreed to be a neurobiological disorder, results from structural brain scans have not shown consistent features that point to a diagnosis of autism.

Symptoms of autism usually appear during the first three years of childhood and continue throughout life. Some common symptoms are:

• absence or impairment of imaginative and social play
• impaired ability to make friends with peers
• impaired ability to initiate or sustain a conversation with others
• stereotyped, repetitive, or unusual use of language
• restricted patterns of interests that are abnormal in intensity or focus
• apparently inflexible adherence to specific routines or rituals
• preoccupation with parts of objects

Children with some symptoms of autism, but not a sufficient number to be diagnosed with the classical form of the disorder, often receive the diagnosis of pervasive developmental disorder, not otherwise specified (PDDNOS). People with autistic behavior, but also have well-developed language skills, are often diagnosed with Asperger syndrome. Children who appear normal in their first several years, then lose skills and begin showing autistic behavior, may be diagnosed with childhood disintegrative disorder (CDD). Girls with Rett syndrome , a sex-linked genetic disorder characterized by inadequate brain growth, seizures , and other neurological problems, may also show autistic behavior. PDD-NOS, Asperger syndrome, CDD, and Rett syndrome are referred to as autism spectrum disorders.

Diagnosis

Currently, there are no objective medical tests for the diagnosis of autism and no reproducible genetic or biological markers for the disorder. The diagnosis is made with a multidisciplinary approach involving a developmental pediatrician, psychologist, speech and language professional, audiologist, and special educator.

Using a standardized rating scale, the specialist closely observes and evaluates the child's language and social behavior. A structured interview is also used to elicit information from parents about the child's behavior and early development. Reviewing family videotapes, photos, and baby albums may help parents recall when each behavior first occurred and when the child reached certain developmental milestones. The specialists may also test for certain genetic and neurological problems.

Treatment team

The treatment of childhood autism traditionally falls within the competence of the psychiatrist and the psychologist and involves the application of various methods of individual therapy. Speech therapists can work with children to help them develop social and language skills because children learn most effectively and rapidly when very young.

Moreover, occupational therapists and physiotherapists are important professionals in the development and life quality improvement for patients and parents. The treatment involves a therapist's work with the child and with the caregivers, who work with the child at home under the therapist's direction. Basic medical assistance is provided by the pediatrician and other physicians.

Treatment

No definitive treatment regimes have thus far been developed for this serious disturbance and therapy is generally merely supportive. Some attempts have been made to support such therapy with psychiatry and psychology, as well as high doses of vitamin B6, vitamin E, and magnesium. Various psychoactive drugs have also been tried, as well as a group of medications called H2 blockers. A "hugging machine" has been built to support therapy by the holding method. This device makes it possible for children with autism to overcome their fear of touch (tactile stimuli).

An alternative treatment approach has been attempted using secretin, which is a hormone secreted by cells in the digestive tract to help control digestion. The history of the application of secretin in the treatment of childhood autism dates back to 1996, when, by coincidence, a significant improvement in mental condition was noticed in a child with autism who had received secretin for diagnostic purposes. When it was administrated, one of the chief symptoms of autism, the avoidance of eye contact, was 75% reduced. Some additional children with autism also showed limited improvement after treatment with secretin. On January 5, 2004, results of a clinical trial revealed that the hormone was of little value in improving the socialization of young children with autism. Nevertheless, many parents and physicians continue to advocate development of the drug and further study.

Recovery and rehabilitation

A wide variety of long-term interventions have been advocated for children with autism. These include applied behavioral analysis, use of pictures for expressive communication (as in the picture exchange communication system), and intensive exercise programs. Therapists working in schools now recognize the holistic learning needs of the child, including personal and emotional growth as well as opportunities to broaden their experiences, regardless of whether measurable developmental progress is made.

Clinical trials

As of early 2004, there were numerous open clinical trials for autism, including:

• drug treatment for autism at the National Institute of Mental Health (NIMH)
• synthetic human secretin in children with autism, sponsored by Repligen Corporation
• improving attention skills of children with autism at the National Institute of Child Health and Human Development (NICHD) in collaboration with the National Institute of Mental Health (NIMH)
• study of fluoxetine in adults with autistic disorder
• a controlled study of olanzapine in children with autism, sponsored by the FDA Office of Orphan Products Development
• randomized study of fluoxetine in children and adolescents with autism, sponsored by the FDA Office of Orphan Products Development and Mount Sinai Medical Center
• valproate response in aggressive autistic adolescents at the NICHD and the NIMH
• brain imaging of childhood onset psychiatric disorders, endocrine disorders, and healthy children at the NIMH

Prognosis

Among individuals suffering with autism, 75% have a poor outcome and 25% show significant improvement. Acquisition of language before the age of six years old, IQ levels above 50, and having a special skill, such as expertise in computers, predict good outcome. For people with severe autism, independent living and social functioning are unlikely. For those with higher functioning autism, the jobs acquired are often below their education level. The social interactions of most adults with autism are limited or modified.

Special concerns

Most scientists concur that autism has a strong biological basis, with evidence continuing to accumulate for an underlying genetic cause that results in abnormal brain development. Future genetic and brain-imaging studies will undoubtedly contribute to a greater understanding of the disorder's etiology and pathophysiology. The combination of continually evolving methodological and technological advances will, hopefully, bring science closer to the goal of better and earlier intervention in autism.

Resources

BOOKS

Edelson, Stephen M., and Bernard Rimland. Treating Autism: Parent Stories of Hope and Success. San Diego, CA: Autism Research Institute, 2003.

Harris, Sandra L., and Beth A. Glasberg. Siblings of Children With Autism: A Guide for Families (Topics in Autism). Bethesda, MD: Woodbine House, 2003.

Seroussi, Karyn. Unraveling the Mystery of Autism and Pervasive Developmental Disorder: A Mother's Story of Research and Recovery. New York, NY: Broadway, 2002.

PERIODICALS

Baird, G., H. Cass, and V. Slonims. "Diagnosis of Autism." BMJM 327 (August 2003): 448–493.

Kamińska, B., et al. "Use of Secretin in the Treatment of Childhood Autism." Med Sci Monit 8 (January 2002): RA22–26.

Nicolson, R., and P. Szatmari. "Genetic and Neurodevelopmental Influences in Autistic Disorder." Canadian Journal of Psychiatry 8 (September 2003): 526–537.

Tidmarsh, L., and F. Volkmar. "Diagnosis and Epidemiology of Autism Spectrum Disorders." The Canadian Journal of Psychiatry 8 (September 2003): 517–525.

Torres, A. "Is Fever Suppression Involved in the Etiology of Autism and Neurodevelopmental Disorders?" BMC Pediatric (September 2003): 3–9.

OTHER

Autism Society of America. January 3, 2004 (February 18, 2004). <http://www.autism-society.org>.

National Institute of Mental Health. January 3, 2004 (February 18, 2004). <http://www.nimh.nih.gov>.

ORGANIZATIONS

Autism Society of America. 7910 Woodmont Ave. Suite 300, Bethesda, MD 20814-3067. (301) 657-0881; Fax: (301) 657-0869. [email protected]. <http://www.autism-society.org/>.

Cure Autism Now (CAN) Foundation. 5455 Wilshire Blvd. Suite 715, Los Angeles, CA 90036-4234. (323) 549-0500 or (888) 828-8476; Fax: (323) 549-0547. [email protected]. <http://www.cureautismnow.org/>.

National Institute of Child Health and Human Development (NICHD). 9000 Rockville Pike Bldg. 31, Rm. 2A32, Bethesda, MD 20892-2425. (301) 496-5133. [email protected]. <http://www.nichd.nih.gov/>.

National Institute of Mental Health (NIMH). 6001 Executive Boulevard, Room 8184, MSC 9663, Bethesda, MD 20892-9663. (301) 443-4513; Fax: (301) 443-4279. [email protected]. <http://www.nimh.nih.gov/>.

Francisco de Paula Careta

Greiciane Gaburro Paneto

Iuri Drumond Louro