Autrism is a condition characterized by impaired social interactions and communication, both verbal and nonverbal, often associated with cognitive behavioral disturbance and deficits.

Author’s Comment: The incidence of autism is seemingly on the rise. More pediatric practices around the nation are feeling the brunt of this increasing number. Much research is currently underway to better understand the cause of this disorder and to find better treatments.

1. What causes autism, and why is the incidence on the rise?

Autism is a neurodevelopmental disability that has multiple causes and a strong genetic component. There is no definitive laboratory test to confirm the presence or absence of autism. The diagnosis is made based on a neurodevelopmental profile, defined by the presence of a specified collection of symptoms and behaviors.

Diagnostic criteria have changed over the past fifteen years. Milder variants of autism are now recognized, which accounts for the increasing number of recognized cases. Professionals are also better trained to recognize the early signs of autism, and children are being diagnosed at younger ages. Schools added autism to the list of qualifying conditions that receive special education services in 1991, which may account for part of the increase in the number of children with autism in the school system. In addition, most children with developmental disabilities no longer live in institutions; more children with autism live in our communities and are in our public schools than in the past.

The current estimate of the prevalence of the spectrum of autistic disorders in American children is approximately two to six out of a thousand children, or 0.2 percent to 0.6 percent. This number was reported as 0.5 per 1,000 in 1988 (0.05 percent) and 3 to 4 per 1,000 in the late 1990s (0.3 percent to 0.4 percent). The question remains whether the incidence of autism is really on the rise, or if it is simply more apparent now due to changing diagnostic classifications and heightened public awareness.

Approximately 10 percent to 15 percent of children with autism have a known genetic or medical disorder. Tuberous sclerosis, Fragile X syndrome, and certain metabolic disorders are a few examples. In most children, however, the cause is unknown. A number of genes have been identified that are linked to autism, but diagnostic tests are not yet widely available for most of these conditions. Various nonspecific anatomical changes are seen in the brains of some children with autism, but the factors causing these changes to occur are unknown.

Environmental factors may affect prenatal brain development, but more research is needed to answer these and other questions regarding known causes of autism.

2. Is there anything I did as a parent that could have contributed to my child’s having this condition?

The original doctor who described classical autism in the 1940s postulated that cold and unnurturing parenting caused a child to develop autism. Current research no longer supports that theory, but the specter of parental responsibility seems to persist. The current consensus among researchers is that autism is caused by the interaction of complex neurobiologic factors, involving one or more genes and that parenting styles do not contribute to the development of autism.

Fetal brain development is affected by a variety of conditions, including alcohol, drug, and tobacco exposure. Two medications, when taken during pregnancy, have been linked to autism: thalidomide and valproic acid. Maternal infections during pregnancy, such as rubella, may also cause autism. The developing brain is especially sensitive during the first eight weeks, often before the pregnancy has been diagnosed. It is possible that exposures during that time period may affect brain development to some extent, but no other definitive environmental factors have been identified.

3. Could autism be related to immunizations?

Multiple scientific studies have revealed no evidence to support a link between autism and immunizations (such as against measles, mumps, and rubella [MMR]) or thimerosal (a vaccine preservative that contains ethyl mercury). Multiple stories in the media have kept these myths in the public eye, but scientific reports have failed to support the claims. In addition, the use of thimerosal as a vaccine preservative was discontinued several years ago, eliminating this issue as a reason not to vaccinate.

4. Are there any diagnostic tests needed to further define this disorder?

Several types of tests may be performed as part of a comprehensive evaluation. A comprehensive developmental assessment, measuring a child’s language, motor, cognitive and adaptive skills should be performed on all children suspected of having autism. Specially designed tests are also used as part of the evaluation.

Further medical diagnostic testing may be indicated based on findings from the history and physical exam. These tests may include blood work for specific genetic and metabolic disorders, electroencephalogram (EEG), or MRI scanning.

5. What is the current treatment, and how effective is it?

The most effective treatment for autism is a comprehensive program including developmental, educational, and behavioral therapies. Early intervention in language, social, and cognitive development is important in maximizing the child’s developmental potential. Individual speech/language therapy, developmental therapy, and/or motor therapy may be recommended. Child-centered therapeutic approaches are often more effective. Additional methods, such as sign language, picture exchange systems, and communication devices are often used to augment spoken language.

Involvement in a specialized preschool program is recommended, not only for academic instruction, but also for socialization to the classroom. A specifically designed curriculum for children with autistic disorders focuses on the specific difficulties children have with communication, socialization, behavior, and transitions. Social skills training is often effective in facilitating interactions with others.

Behavioral intervention involves analyzing problem behaviors and developing strategies to help the child adapt and respond to the environment. Applied behavior analysis and relationship-based intervention models focus on eliminating unwanted behavior and teaching appropriate skills in communication, socialization, and learning.

Many families participate in complementary or alternative medical treatments. Anecdotal reports of children who dramatically improved after treatment with certain medications or therapies can be found in books, on the Internet, or from other parents. Often, no scientific evidence exists to support these claims, but due to the nature of the condition and the lack of specific treatments for autism, these therapies often gain popularity and then fade when a new alternative therapy arises.

Some examples of these treatments include antifungal medications, high-dose vitamins, secretin, steroids, heavy metal chelation, and gluten- and lactose-free diets. It is important to review any treatments not prescribed by your child’s doctor with him or her before beginning, both to receive objective evidence of effectiveness and to explore any unexpected side effects that treatment may cause.

6. Do we need to see a developmental pediatrician and/or a neurologist for this disorder?

Early screening and diagnosis are essential in improving the outcome of children with autism. There are several screening tools available that may be administered in a pediatrician’s office. If the screen is positive, referral to a comprehensive evaluation center is important. There are many conditions that can present a similar profile, and determining the presence or absence of autism is sometimes difficult.

A multispecialty evaluation is important in making a definitive diagnosis of autism. If a comprehensive center is not available in your area, consultation with an experienced clinician—a developmental pediatrician, a neurologist, or psychiatrist—may be recommended.

7. How do we get my child’s school involved?

Children with autism are eligible for special education services through the public schools beginning at the age of three through twenty-one. Contact your school district’s special education division to request a full individual evaluation. After testing is completed, you will meet with a school committee to receive the results and their recommendations for services. Parents are considered full partners on the committee. The committee will write an Individual Education Plan that outlines specific services your child will receive and goals for learning. This may include additional services, such as speech therapy, as well as classroom placement. The plan will be reviewed and revised on an annual basis, or on request if your child is not making the expected progress on the plan. A complete reevaluation takes place every three years.

The Individuals with Disabilities Education Act provides that children with disabilities (including autism) are educated in the least restrictive environment. Children with disabilities may be placed in regular classrooms with a few special services. At times, a selfcontained special education classroom is the best placement. It is up to the school committee and you, the parents, to agree on the best classroom setting for your child.

If there is a disagreement with the committee’s recommendations, parents are urged to delay signing until there is full agreement. If an acceptable plan cannot be agreed upon, a complaint is filed, and a due process hearing is requested.

8. How do we as parents get help and counseling?

A comprehensive evaluation center will provide parent education, support, and resources. Understanding the diagnosis and knowing how you can impact your child’s future are critical in developing a family plan of intervention. Social work services may help families find financial support, respite services, and other resources. Connecting with other families who have children with autism can help provide a network of understanding and information. Online communities are also available as a resource, allowing families to connect on a more global basis. Family, marital, or individual counseling may sometimes be recommended.

9. What type of follow-up is needed?

Periodic follow-up is important in assessing your child’s developmental progress and evaluating therapeutic interventions. At times, other pediatric specialists may be consulted, such as a neurologist, a geneticist, or a psychologist. As your child grows and enters new phases of development, new challenges may arise. Consultation with your pediatrician can help determine what other professionals should be involved.

LISA W. GENECOV, MD
Developmental Pediatrics

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