No one knows exactly what causes autism; there is no blood test to determine whether someone has autism. Rather, a diagnosis is made on the basis of certain behavioral characteristics. New research has focused on genetic connections to the development of autism, looking at six specific genes.
In Rhode Island in 2010, there were 1,641 children in kindergarten through 12th grade diagnosed with autism spectrum disorder, according to the 2011 Rhode Island KIDSCOUNT factbook.
Providence Business News asked Rowland Barrett, director of the Center for Autism and Developmental Disabilities at Bradley Hospital, to talk about new developments in the treatment of autism.
PBN: How prevalent is autism in Rhode Island? Is it increasing as a diagnosis?
BARRETT: In 2010, about one in every 100 students in Rhode Island were enrolled in special education classes with a diagnosis of an autism spectrum disorder.
The diagnosis increased dramatically beginning in 1994 when a change in public policy allowed autism to be recognized as a special education diagnosis. Prior to the federally mandated change in policy, students needed to carry a diagnosis of mental retardation in order to access special education classes. The prevalence of mental retardation decreased proportionate to the increase in the number of students being enrolled with an autism diagnosis. We have approximately the same number of special education students enrolled across the system, but with more accurate diagnoses.
As we have learned more about autism, it has become apparent that it is not a single entity. Rather, it is best described as a spectrum that runs the gamut between very severe and a much milder version called Asperger’s syndrome. Broadening the definition of autism to include Asperger’s and other autistic-like disorders has contributed greatly to the increase in prevalence observed across the past 20 years.
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PBN: New work has attempted to look at the genetic roots of autism, identifying specific genes? Have there been promising results?
BARRETT: First, it is important to note that we do not know what autism is and that we only know what it looks like. There is no blood test to determine whether someone has autism. A diagnosis of autism is based on what is referred to as a “behavioral phenotype.” That is to say, we have a list of behavioral characteristics that are agreed upon as being representative of autism. When an individual is observed to have these behavioral characteristics, a diagnosis of autism is made.
There is much research underway attempting to identify a genotype that is specific to the phenotype of autism. The vast majority of professionals in the field agree that autism is a genetic disorder. Proving it is another matter.
There are 25,000 genes in the human body and 6 billion chemical codes on human DNA. Autism is not a single gene disorder. This means that every aspect of every gene must be examined in relation to all other aspects of all other genes. It is painstaking work.
Currently, the thinking is that at least six genes play a major role in the development of autism, with as many as 30 to 40 (or possibly as many as 100) additional genes in supporting roles. In this regard, it is not surprising to learn that more than 80 separate genetic conditions have been reported in people with autism spectrum disorder.
PBN: What are the current treatments for autism?
BARRETT: Autism, in its most severe form, is defined by a pronounced withdrawal from emotional contact, an inability to develop normal relations, and a failure to use language for communication. Intellectual impairment also is apparent in the more severe cases of the disorder.
A treatment package that includes special education as well as speech and language therapy is fundamental and serves as the basis to additional therapies that focus on affective development and building interpersonal relationships.
Unfortunately, the prognosis for the most severely affected individuals is poor. For those individuals with milder forms of autism spectrum disorder, such as Asperger’s, developmental outcomes are much, much better. Here, too, it is a matter of special education and communication skills training forming the basis for treatment that focuses on developing social skills and interpersonal relationships.
There are no drugs specific to autism that alleviate symptoms of the disorder. Individuals with autism spectrum disorder experience an increased risk of psychiatric disorder compared to the general population. Many of the same drugs used to treat specific psychiatric disorder in the general population may be applied with success to the patient with autism spectrum disorder.
PBN: A new bill to require health insurance companies to cover treatment therapies for autism has been introduced in the current session of the R.I. General Assembly, including applied behavioral analysis. Do you favor this legislation?
BARRETT: I am unaware of any professional who works in the field of autism spectrum disorder who is not in favor of broadening insurance coverage for this population. There are several effective treatment services that are uncovered by insurance and available only to those families who qualify for Medicaid. This is patently unfair. Applied behavior analysis is one such treatment that is not covered by insurance but has proven to be a very effective early intervention for very young children with autism. It is not the only treatment. Moreover, it is not a good fit for every individual with autism.
The General Assembly should be mindful of the potential consequences of legislating a specific treatment approach that will entitle individuals to receive treatment under the provisions of their insurance while other approaches are denied because they are not named in the law.
PBN: Are there environmental causes that trigger autism and intellectual disability?
BARRETT: There are a number of environmental causes of intellectual disability, chief among them is poverty and its association with inadequate prenatal care, intrauterine exposure to alcohol, and lead poisoning, to name only a few. The case for environmental triggers for autism spectrum disorder is not so clear. We do not know what autism is and we only know what it looks like. Individuals with autistic-like conditions resulting from medical illnesses such as cytomegalovirus and toxoplasmosis have been diagnosed based on their behavioral phenotype. However, we are left to question whether this is real autism or a mimic.
The discussion of environmental triggers also has included concerns about the role of vaccines, such as the MMR vaccine, in promoting autism, as well as the presence of a preservative called thimerosal in DPT vaccines. Multiple international studies have proven conclusively that there is no scientific evidence of any kind linking vaccines to autism. This does not mean that environmental triggers to this condition do not exist, and we must explore every possibility using the best scientific methodology and technology available.
