Testimony of Dr. Jeffrey Segal
Before the Government Reform Committee
U.S. House Of Representatives

Autism – Why the Increased Rates? A One Year Update

In October 1999, I became a member of a club I never wanted to join. My son was given a diagnosis of regressive autism.

Introduction

A little background. I am the father of 4 year old twins, a boy, Joshua, and a girl, Jordan. I practiced as a neurosurgeon in Indiana. My son, developed normally and hit all of his milestones. He was jolly, sweet-natured, and very bright. Before his second birthday, he started losing the language he had acquired. He became hyperactive and inattentive. Finally, he lost interest in his toys, videos, and his sister and withdrew socially. We thought he might be deaf. By the time a physician confirmed the diagnosis, my wife, Shelley, and I already knew. We were shocked and devastated.  Fortunately we knew a couple who had recovered their child from autism and followed their lead as it related to treatment. This is what parents do after being handed the diagnosis. They network with each other for information because there are few standardized treatment plans. I investigated treatment options. The first treatment consisted of occupational therapy to address my son's sensory issues. The other early intervention that we opted for was called ABA (Applied Behavioral Analysis). ABA breaks down everyday actions into discrete steps. The training is delivered as one on one therapy and involves 40 hours of work a week. It is expensive, exhaustive, and time consuming. Most families we spoke with in Indiana were on waiting lists for  ABA treatment. Time was our enemy. We moved to North Carolina. I quit my practice and devoted my time to analyzing and investigating biomedical options.

I am pursuing three main projects right now:

     First, help my son. If I can help him, I can help others.

     Next, research toxicologic causes and treatments as it relates to autism. Some of this work is in cooperation with Dept of Physiology at Wake Forest School of Medicine.

     Finally, I am exploring pharmaceutical solutions. I started a drug company based on medications that are likely to be relevant to helping those with autism. (Should also help those with Parkinson's, schizophrenia, and other central nervous system disorders.)

I do not have time to practice neurosurgery any longer......

Observations:

     1. More children today are developing illnesses earlier in life.  Autism and a host of autoimmune disorders are becoming rampant. Anecdotally, I live within 3 walking minutes of a child with juvenile diabetes, another child with an autoimmune platelet disorder, and another child with pervasive developmental disorder. Each child became ill in their second year of life.

         The number of children with autism or related disorders is rising. We are in the midst of a dangerous epidemic. Don't take my word for it and don't ask physicians. Ask teachers. These kids are filling regular and special ed classrooms to overcapacity.

         Some argue that the number is static and doctors are just better diagnosticians. Two points: Where are the autistic adults who were never diagnosed 20 years ago? Surely they must be somewhere. Also, physicians spend less time than ever truly talking with patients and families. More diagnoses are made by tests and machines. No laboratory test exists for autism. The diagnosis is based strictly on clinical examination. And finally, the average time between onset of autistic symptoms and diagnosis is still years. We are not better diagnosticians.

        The California Dept of Developmental Services is now adding one new child with full blown autism every 3 hours. It costs $2 million to raise an autistic child to age 21.

     2. The number of physicians who have a deep understanding of autism treatment is small. These doctors are overworked and it takes months to get an appointment. Many of these MD's have affected children of their own. Often they don't work at high profile medical centers. Since autism is a systemic condition that involves the gastrointestinal system, immunologic system, and central nervous system, it requires expertise by multiple specialists. Finding these specialists who have an interest in treating  autism can be a daunting task.

     3. The statistics quoted by academicians are at odds with current reports by parents. For example, the standard autism literature does not recognize a general connection with gastrointestinal disease and autism. However, families report that 80% of their children have GI problems. Standard literature suggests that only 20% of autistics have the regressive variety; that is, they developed normally until age two, then regressed. Most parents report that their children fall into the regressive, or acquired, category.

     4. Andrew Wakefield has theorized about a connection between GI problems and autism. His work suggests that the measles virus (from vaccines) might persist in GI tissue. This association might also have a causal role in autism. This work urgently needs replication. Yet, many gastroenterologists conveniently dismiss his work rather than test his theory.

     5. 80% of autistic children have abnormal spike activity in brain regions associated with speech. It is believed that those electrical abnormalities might contribute to the language deficits. Correct diagnosis requires, at a minimum, an overnight EEG. Most kids are given a one hour EEG, informed that it is normal, and never properly treated. Not infrequently, the EEG is normal, though a more sensitive test, the MEG, is abnormal. MEG is located in only a handful of cities and is expensive. Insurance companies do not readily pay for this test. Once correctly diagnosed, many children may be given appropriate anti-seizure medication. This often improves the language  deficits.

     6. Insurance companies do not readily pay for anything that is autism-related.  Laboratory tests are paid out-of-pocket by parents. And most autism research is being performed at the parent's expense. They pay for the tests and the consequent data is collated for study. This is opposite of the way research is traditionally done.

     7. ABA treatment is effective for about 50% of the autistic children. It calls for early intervention and intensive one-on-one therapy. It is expensive, but worth it. Costs are $30-70,000 a year. Parents turn to school districts to make these treatments available. Where one resides determines the type of treatment received. It is not uncommon for the school district to litigate against parents so they won't have to provide that service. The alternative is placing children in large classrooms. This  effectively warehouses the child and minimizes potential for future gain. Waiting lists for services are all too common.

     8. Most physicians are reluctant to do more than provide band-aids for symptoms; such as providing antipsychotic medications to control difficult behaviors. Parents are told no data from double blind controlled studies supports existing therapies. We don't have time to wait for these studies. The clock is ticking. Most recommended standard treatments are not particularly high risk. Research must be done to advance the field.  But, there is a paucity of treatments that are being studied and examined.

     9. There is a serious need to study probable role of environmental agents as causative factor in autism. Toxins, vaccines, and infectious agents must be considered.

The Centers for Disease Control recently reported that one in 10 women of childbearing age in the U.S. are at risk of having newborns with neurological problems due to mercury exposure. Until recently, vaccines had thimerosal as preservative. Thimerosal is a preservative that contains organic mercury. Organic mercury is widely recognized as a neurotoxin. It damages tubulin, a major structural component of cells (Liliom, 2000). Infant vaccines that routinely contained thimerosal were DPT, Hep.B and HiB.  Following the CDC recommended vaccine schedule infants were exposed anywhere from 0 to 187.5 mcg of ethyl mercury, depending on the vaccine manufacturer and total exposure through 18 months could be as high as 237.5 mcg. The dose thought to be allowable by EPA is 0.1 mcg per kilogram per day. If an average 5 kg infant received all thimerosal containing vaccines at his 2 month visit the exposure that day would be 62.5 mcg ethyl mercury, an exposure that is 125 times over the EPA’s guideline.

Information from large epidemiological studies conducted in mercury exposed populations suggests that intermittent large exposures may pose more risk than small daily exposures. In one study, lower scores on memory, attention, language and motor function tests were found years later in children who had been exposed prenatally to intermittent bolus doses of methyl mercury. The doses were from dietary exposure at levels that had been previously thought to be safe. (Grandjean, 1998)

At the June 21, 2000 Advisory Committee for Immunization Practices meeting held in Atlanta, Georgia, Dr. Thomas Verstraeten of the National Immunization Program presented a review of vaccine safety datalink information on thimerosal containing vaccines. Over 400,000 children participate in the vaccine safety datalink program. >From this database 100,000 eligible charts were reviewed to determine exposure to thimerosal containing vaccines and specific neurodevelopmental outcomes. Key findings were statistically significant associations between cumulative exposure to  thimerosal containing vaccines at 2 months of age and unspecified developmental delay; 3 months of age and tics; 6 months of age and attention deficit disorder; 1,3,and 6 moths of age and speech and language delay and neurodevelopmental delays in general.

The vaccine manufacturers have stopped making new vaccines with mercury as a preservative. But, many vials still sit on MD’s shelves.  To date, the FDA has denied requests from concerned citizens for a recall. With more vaccines being recommended to an already full vaccine schedule, and many vaccines administered earlier in life, the potential for mercury toxicity in children is high. The symptoms of mercury poisoning and autism are quite similar. In addition, mercury is prevalent in the environment and finds its way into the food chain.

Other metal toxins may play a role in autism. I recently analyzed 250 hair samples and found 30% have over 2 SD above mean for various metals: aluminum, arsenic, or antimony. These agents are ubiquitous in the environment. This finding is timely. The Bush administration had reservations about lowering acceptable safe limits of arsenic in the water supply.

Chelation treatment is one way to remove metal toxins from the body. Chelation uses compounds that have a propensity to grab metal toxins.  There are many unanswered questions regarding chelation as it relates to treating mercury intoxication. Does it cross the blood-brain barrier? Is it effective for chronic poisoning? It is considered an alternative therapy, yet it appears to help a large number of children. Historically, chelation's reputation is poor. I say this as a physician who would never have previously entertained the idea of chelation for any chronic condition. It is  extraordinarily difficult for a practitioner to get funding to study chelation. It is just as difficult to get MD’s to consider it as a viable treatment.

My scientific work is focused on analyzing genes and proteins that detoxify heavy metals in autistic children. My hypothesis is that some children are genetically predisposed to the inability to detoxify the metals to which they are exposed to in the environment. These metals may come from vaccines, food, or the environment. The major detox pathway for heavy metals is (metallothionein) MT. I am researching whether or not children have defective MT genes or if they are unable to make appropriate amounts of this protein in response to insult. This could explain why not all children exposed to the same environmental insult develop autism. 

Recommendations

I'd like to close with several concrete recommendations:

     · Immediate and abundant funding for research, particularly treatment.

     · Fund fellowships to increase the number of skilled MD’s treating autism.

     · Mainstream autism as it relates to insurance payments. It is a biological condition (not a psychiatric one) and should not be constrained by policy limits on mental health coverage.

     · Standardize payments for ABA across the country. It is unfair that some families are on waiting lists for two years to access coverage.

     · Get vials of thimerosal-containing vaccines off the shelves through recall.

     · We need to seriously test the hypothesis that vaccines are not always as safe as is currently believed. In addition, combinations of vaccines have potential risks that have never been explored. I understand the public health import of diseases we are preventing, but retrospective statistics trying to prove an underlying bias is intellectually dishonest.   Prospective studies are needed.

     · Licensing boards should be less heavy handed to MD’s offering off-label treatment to families that are desperate for treatment. Off-label use of medications is common in all fields of medicine. The standard by which they should be judged is risk versus benefit.

Summary

Today we are losing a generation of children to autism and related disorders. As a physician and scientist, I work diligently to provide the answers that will unlock autism's mysteries. As a parent, I am a detective. I work with my wife and my exceptional team of ABA, occupational, and speech therapists to discover what will ultimately heal my son. I have great faith in Josh's courage and determination.

I recommend that all parents put their children on a gluten free / casein free diet to improve focus and cognition. It has minimal risk and many children have responded. Parents should perform 24 hour EEG on their child to detect possible seizure or spiking activity in the brain. And parents should test their children for heavy metal toxicity. DMSA has been shown to help a number of children. The reason for this improvement may be entirely unrelated to its action as a chelating agent. Nonetheless, I would  encourage parents to consider a trial of this treatment under the auspices of their doctor.

Every day Shelley and I struggle in our continual battle to fight Josh's sensory, social, and cognitive impairments. Jordan, his twin sister, helps him also. It is our greatest hope that one day our children will not only share a classroom, but the close, playful, and loving relationship they experienced before Josh was robbed by autism.

References

     Grandjean P, Weihe P, White, RF, Debes F. Cognitive performance of children prenatally exposed to "safe" levels of methylmercury. Environ Res. 1998; 77: 165-172.

     Grandjean P. Weihe P, Nielse, J. Methylmercury: Significance of interuterine and postnatal exposures. Clin. Chem. 1994: 40 (7) 1395-1400

     Liliom K, Wágner G, Pácz A, Cascante M, Kovács J, Ovádi J: Organization-dependent effects of toxic bivalent ions microtubule assembly and glycolysis. Eur J Biochem 2000: 267: 4731-9