What’s Behind Autism?

If you’re a parent with young children, you’re almost certainly familiar with the developmental disability known as autism.

The sharp increase in the number of cases of autism, and autism spectrum disorders (ASDs), diagnosed over the last twenty years has led to a frenzy of media attention as experts try to pin down the culprit.

Most autistic diagnoses are made before a child is 3 years old.  Symptoms of classic autism include:

• Impaired social and communicative functioning, such as the unwillingness or inability to look people in the eye or develop relationships with peers, and
• Repetitive and stereotyped patterns of behavior and interests, such as an unusual commitment to nonfunctional routines or frequently repeated motor movements such as hand flapping.

Once thought to be an extremely rare condition, the Centers for Disease Control (CDC) now estimates that 1 in 150 8 year-old children in multiple areas of the United States has an Autism Spectrum Disorder.

Researchers studying the disorder have come up with several competing theories to explain why, for example, the number of 6-17 year olds with ASDs in public special education programs jumped from 22,664 to 211,610 between 1994 and 2006.

The possible explanations include:

• Early childhood vaccinations,
• Environmental degradation,
• Genetic factors, and
• Expanded diagnostic criteria.

Early Childhood Vaccinations

A special court, often referred to as a “vaccine court,” ruled this past February that there is no connection between early childhood vaccinations and autism.

The ruling was based on an analysis of existing medical studies and on evidence brought forward by parents of autistic children who were hoping to receive compensation from the U.S. government for the harm caused to their children.

Much of the academic and medical literature reaffirms this finding.

For example, W. Ian Lipkin, the senior author of this study conducted by the Mailman School of Public Health at Columbia University stated, “We found no connection between autism and the measles, mumps and rubella (MMR) vaccine.”

Many parents of autistic children are not convinced, and they vow to push for more research.

Included in this group is actor, father and advocate, Jim Carrey.

You can read Carrey’s concerns about the special ruling here on the Huffington Post.

Additionally, some parents have consciously decided to forego or delay certain vaccinations for their children.  They argue that children do not need 20 vaccinations in their first 18 months of life, and that children are being unnecessarily exposed to certain chemicals.

Physicians such as Dr. Todd Wolynn, a pediatrician based in Pittsburgh, PA, repeatedly stress that the vaccination schedule itself is not the cause of autism, and that skipping vaccines is actually leading to the return of some serious childhood illnesses.

• For example, the CDC reported 131 cases of the measles virus between January and July of 2008, the highest number reported for the same time period since 1996.

Dr. Wolynn does argue that there might be other environmental factors responsible for the exponential increase in ASD cases.  He calls for further research on this particular point, as do many parents.

As of now, not much is known as what impact pollution or other environmental degradation might be having on our children’s development.

Genetic Factors

Scientists are making slow but steady progress on the genetic front when it comes to autism.

Last month, the online journal Nature published two exciting studies led by Hakon Hakonarson, director of the Center for Applied Genomics at Children’s Hospital of Philadelphia.

Dr. Hakonarson and his colleagues identified the first genetic variation that is common amongst a large group of people with autism-one that may account for 15% of the total cases.

Additionally, the research team found that:

• The genetic variation that is common amongst autistic individuals lies between two genes that control the connections that brain cells make with each other; and
• Folks with autism also have an abnormality in the genetic area that produces ubiquitin.  The key role of ubiquitin is to prune unnecessary or extra connections between brain cells, which helps to speed cognitive development.
  • Past research has also suggested that children with autism go through the pruning process later than their non-autistic peers.
• These results strengthen the argument that people with autism have poorer connections between different areas of the brain than do people without the disorder.

These findings are especially interesting because of the large number of individuals who participated in the study- 5,500 with autism, 1,500 unaffected relatives, and 6,500 control-group people who do not have autism in their family.

Past studies have been much smaller, which limits the conclusions that can be drawn from the results.

The hope is that these findings can be reproduced and eventually used to create medications that improve the brain connections of autistic individuals, thus lessening or reversing the symptoms of the disease.

Expanded Diagnostic Criteria

And there are those who argue that the jump in cases may primarily be the result of expanded diagnostic criteria.

Columbia University Sociology professor Gil Eyal is studying the disorder in its historical context.

Until recently, there were only two diagnoses given to developmental disabilities:

• Emotional Disturbance, and
• Mental Retardation.

Today the broad middle ground between these two categorizations is filled by autism spectrum disorders.

• Although Congress passed the precursor to the Individuals with Disabilities Act in 1975, it was not until 1990 that autism was adopted as a category in this legislation.
• This improved diagnostic criteria led to a higher number of cases identified.

Now that we can better identify autism, treatments and insurance coverage for the disease need to improve.

The prognosis for adults with ASDs varies widely, with some individuals being fully functional and others never developing the skills needed to survive alone on a daily basis.  Autistic folks are generally better off if they undergo extensive social and cognitive therapy sessions as children.

The best of these remedies is known as Applied Behavioral Analysis (ABA) therapy.  This form of therapy focuses on teaching autistic individuals how to perform simply tasks through extensive repetition.

Unfortunately, most insurance companies refuse to cover ABA therapy.  Insurers claim that the high cost of the therapy- $100,000 per patient per year- drives up premiums for other customers and does not produce results that justify the cost.

While half of the states nationwide require insurers to cover autism treatments to some degree, only eleven have mandates when it comes ABA therapy.

Improving access to these forms of assistance is critical, as children who receive the therapies at a young age have much higher success rates as adults.

Lisa Parles, a mother and lawyer with a 17 year-old autistic son, argues that spending on early childhood therapy can save on long-term care costs for autistic adults.

“If it wasn’t for his early years of ABA, I don’t think he’d be brushing his teeth, showering, getting his own snack,” she said, “which for the future, as an adult, is going to have a huge financial impact.”