Schafer Autism Report, July 10, 2003

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Seaver Autism Research Center, Laboratory of Molecular Neuropsychiatry, Department of Psychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA. Irina.Bespalova@mssm.edu

Autism is a complex neurodevelopmental disorder characterized by impairment in social interaction accompanied by a delay or lack of language, restricted interests, stereotyped behavior, and repetitive movement.

Genetic predisposition to autism is evident from family and twin studies, and heritability in idiopathic autism is estimated at over 90%.

Frequency of the disorder is approximately 1:2000 with a male to female ratio of 4:1.

Affected individuals look normal at birth, and the symptoms manifest at the first 2-3 years of life.

The spectrum of clinical symptoms and the severity of the disorder are variable even among siblings.

Family studies and several genome-wide linkage analyses support the hypothesis of complex inheritance with involvement of as many as 10-100 genes of moderate effect.

Identification of genes responsible for the phenotype would help to understand the molecular mechanisms of the disorder.

Several genes have been proposed to play a role in susceptibility to autism, and this paper will overview those genes and their potential role in the disorder.

Prevalence of Chronic Gastrointestinal Symptoms In Children With Autism And Autistic Spectrum Disorders

Center for Epidemiology and Biostatistics, Cincinnati Children’s Hospital Medical Center, OH 45229-3039, USA. Cynthia.molloy@chmcc.org

The purpose of this study was to estimate the prevalence of chronic gastrointestinal symptoms in a general population of children with autism or autistic spectrum disorder (ASD).

The study site was a clinic specializing in ASD in a large pediatric medical center serving a 10 county area in the midwestern USA.

In a sample of 137 children, age 24-96 months, classified as having autism or ASD by the Autism Diagnostic Observation Schedule-Generic, 24 percent had a history of at least one chronic gastrointestinal symptom.

There was no association between chronic gastrointestinal symptoms and a history of developmental regression.

The potential phenotypic association between autism and gastrointestinal symptoms is discussed.

Department of Pediatrics University of Illinois, College of Medicine at Rockford, Rockford, Illinois 61107, USA. lfrenkel@uic.edu

The development and application of vaccination and immunization is one of the most remarkable successes of the 20th century.

In the United States, a number of vaccine-preventable diseases have been all but eliminated through the development of a recommended childhood immunization schedule by governmental and nongovernmental organizations, education of providers about these recommendations, and enforcement of these recommendations by school and day care entry mandates.

Despite these successes, vaccine-preventable diseases continue to occur, in part because of missed opportunities by health care providers, antivaccine forces empowered by misguided mass media, and parental ignorance.

Important aspects of the 2002 recommended childhood immunization schedule are reviewed, including: birth dose hepatitis B, diphtheria underimmunization and tetanus overimmunization, increasing pertussis disease, the success of conjugate vaccines, the change in poliovirus vaccines, measles vaccine and autism, the safety of varicella vaccine, and adult vaccination recommendations.

Finally, future prospects for vaccination and immunization are discussed, including: combination vaccines, vaccines against new diseases such as rotavirus, new routes of delivery of immunizing agents, the use of computerized vaccine registries to prevent missed opportunities, and vaccines against bioterrorism agents.

CONCLUSIONS: A careful analysis of risk and benefit suggests that the benefit of vaccination far outweighs the risks from the utilization of immunizing agents.

For two nights around the full moon Benjamin Dionne won’t sleep more than an hour. It’s been that way as long as his mom can remember. He breaks furniture in his bedroom so often they’ve nearly stopped putting any in. The closet door is gone. Benjamin, 9, signs, points to pictures and writes. All his printed messages start “I want.”

Emile Thomas hates buzzing sounds. He won’t go outside after spotting a bee. Right now, in school, he’s learning that falling down won’t kill him. For a long time, the 9-year-old refused to walk on ice or snow. His dad used to call Emile a little china doll. n Until last year, a stranger’s “hello” could prompt Brandon Hatch to share his life story, mom’s name and address. Brandon, 11, will start middle school with his peers this fall, taking regular classes in all but math (he’s a little behind) and gym (he’s a bad

sport.) It scares her, but his mom is pretty sure Brandon will drive a car some day. n Benjamin, Emile and Brandon have autism, a disorder with varying degrees of severity that’s growing in Maine every year. Authorities can’t simply explain why.

Maybe it’s because criteria for diagnosis changed about 10 years ago. Maybe doctors are finding kids that had never been diagnosed before. Maybe kids are being shifted from one disability category to another. Maybe it’s a fad diagnosis.

New numbers from Maine’s annual count of special education students show more autistic children here for the 12th year in a row, which is as long as the state’s kept track. In a decade, the figure has grown 754 percent, from 99 students to 846.

“No one appears to have an explanation that’s sound,” said David Stockford, director of special services at the Maine Department of Education.

Federal and Minnesota state health officials are investigating the death of a 22-year-old Army specialist who died weeks after receiving multiple vaccines, including anthrax and smallpox vaccinations.

Rachael Lacy of Lynwood, Ill., a nursing student and combat medic with the 452nd Combat Support Hospital at Fort McCoy in Milwaukee, got five different vaccinations March 2 as her unit prepared to deploy to the Persian Gulf.

Ten days later, she went to the post clinic with shoulder pain and vomiting and was treated for what health workers thought was a bronchial infection. Over the next three weeks, she was treated at three different civilian facilities, one of which diagnosed her with pneumonia, said Fort McCoy spokeswoman Linda Fournier.

Dr. Eric Pfeifer, the Minnesota coroner who performed the autopsy, said the smallpox and anthrax vaccines “may have” contributed to Lacy’s death.

“It’s just very suspicious in my mind … that she’s healthy, gets the vaccinations and then dies a couple weeks later,” Pfeifer said in an interview.

During blood tests, Pfeifer found evidence of an underlying auto-immune disorder that previously had not been detected. He has been working with the Army and Centers for Disease Control and Prevention in the investigation, he said.

“One of the theories is the vaccine … may have exacerbated this immune problem she had,” Pfeifer said.

Lacy also had pericarditis, inflammation of the sac surrounding the heart, according to her death certificate. That is an expected reaction to smallpox vaccine in some people, according to medical studies.

Lacy’s father insists she was perfectly healthy until she received mandatory smallpox and anthrax vaccinations. Moses Lacy claims those vaccines caused the auto-immune illness, and her symptoms were then misdiagnosed.

“My daughter was a health fanatic,” said Lacy, a Vietnam veteran. “My daughter had no auto-immune disorder. … My daughter didn’t have to die. My daughter was killed.”

Officials with BioPort Corp., maker of the anthrax vaccine, were surprised that the death certificate listed the vaccine as a possible contributing factor.

“There were five immunizations given at the same time,” BioPort spokeswoman Kim Root said. “To call one or two of them out would be the thing that concerns us.”

The anthrax vaccine has a safety profile similar to other adult vaccines, she said.

“We have no reason to believe the anthrax vaccine should have been called out based on its safety profile,” Root said.

Nearly three years ago, a Michigan medical examiner suggested the vaccine as a possible contributing factor in the death of a BioPort employee.

A review of that case by civilian physicians who comprise the government’s Anthrax Vaccine Expert Committee, however, determined the vaccine did not lead to his death, said Army Col. John Grabenstein, deputy director of the Military Vaccine Agency.

In rare cases, the smallpox vaccine can be fatal. Its history shows that one or two vaccinated people per million may die, according to the CDC.

Meanwhile, more than 70 plaintiffs have filed a lawsuit against BioPort and the former vaccine manufacturer, the Michigan Department of Public Health. The suit, filed in U.S. District Court for the Western District of Michigan, alleges the vaccine caused three deaths, including the infant of a vaccinated soldier, and various health problems in scores of others.

Dr. Meryl Nass, an internal-medicine physician in Maine who has closely followed the anthrax vaccine program, said vaccinated people “are developing auto-immune diseases such as rheumatoid arthritis, reactive arthritis and lupus, which cause musculoskeletal pain. Others develop fibromyalgia and chronic fatigue syndrome whose causes are unknown but also may cause similar musculoskeletal pain and fatigue.”

Nass said further study on the vaccine by an independent organization outside the Defense Department is needed.

Root said BioPort supports ongoing research into the safety and efficacy of the vaccine.

Moses Lacy said he needs no further evidence. His daughter called him in March to tell him she had chest pains and breathing problems and had been diagnosed with pneumonia.

“I talked with her a day or two later and she said, ‘Dad, I’m hurting all over. I’m walking like an old person,’ “ he recalled.

Rachael “absolutely loved” serving in the reserves, he said, and had talked of re-enlisting. He had been the one to suggest she join the reserves and was pleased she enjoyed it so much.

“I wonder,” he said, “if I wouldn’t have been so persuasive, if she would be alive today.”

Reuters Health - Britain’s Department of Health said on Tuesday that thousands of children might be at risk of measles, mumps and rubella because two private clinics had not followed correct immunization procedures.

In an urgent message to all family doctors, the department said all children who received the three vaccines separately at the clinics should be re-immunized with the combined measles, mumps and rubella (MMR) jab.

“The present estimate is that this could involve up to 40,000 immunizations going back over a 10-year period,” said Dr. David Salisbury, head of the department’s immunization and communicable disease team.

There has been significant demand for single vaccines for measles, mumps and rubella in Britain following controversial research suggesting that the combined MMR vaccine might be linked to an increased risk of autism.

Officials have repeatedly said the research was flawed, but some parents were not reassured and began paying private clinics for the single jabs.

Salisbury said the two clinics involved in this case, at Elstree Aerodrome in Hertfordshire and Hillsborough Arena in Shieffield, had closed, as they were not registered with the National Care Standards Commission.

The problem with the single vaccines came to light earlier this year, but at the time it was believed that just over 1,000 children had received vaccines that were not properly made up or administered during the second half of 2002.

More information has now become available showing that “aberrant” immunization practices dated back before last summer.

“Our two greatest concerns are that the clinics had not followed the correct procedures recommended by the manufacturer for making up and administering the vaccines,” Salisbury added in his letter.

One worry is that the vaccines were made up in a way that might have made them less effective than normal.

“This means that some children who have been vaccinated may not be adequately protected against one or more of the diseases for which they received the vaccine,” Salisbury said.

He said a second concern is that the vaccines could have been contaminated because of the way they were prepared.

“This could have increased the risk of children suffering bacterial infections from the immunization, or greater side effects to the vaccines.”

Parents whose child had suffered an infection or adverse reactions after receiving the vaccines should inform their doctor so that the reaction could be reported to the Committee on Safety of Medicines.

The health department said that starting tomorrow it would use advertising and the media to advise parents who had used the two clinics to have their children properly re-vaccinated with the triple MMR jab.

“This applies whatever age your previously vaccinated child is now. You should see your GP about arranging this.”

Set apart by their odd habits, people with Asperger syndrome have with vast amounts of knowledge but few friends. They just want others to know why

Adam Holman was 2 years old before he uttered his first word, and 3 before people could understand what he was saying. He spoke later than many kids, but not terribly late, his parents figured.

In school, Adam didn’t have many friends. He missed important social cues, droning on about a subject, for example, even if other kids rolled their eyes or walked away.

At home in Naperville, Adam became extremely agitated if someone sat in his spot at the kitchen table or the family car.

“We just thought this was how he was,” said his mother, Jill Holman. “We worked around his idiosyncrasies and unusual behavior.”

It wasn’t until sixth grade that a teacher noticed that Adam’s behavior was beyond unusual. He wouldn’t make eye contact with other classmates. If math lessons extended past the regular period, he couldn’t focus on anything for the rest of the day. His strange behavior alienated other students, who didn’t invite him to join in their activities.

A child psychologist evaluated Adam and finally put a name to the boy’s collection of odd ways: He had Asperger syndrome.

It’s a question more people are asking as increasing numbers are given the relatively new diagnosis, which often is considered a high- functioning form of autism.

Asperger also is gaining more recognition with the creation of support groups and books like the newly released “Finding Ben,” which details a mother’s struggle to understand her son.

Despite the growing awareness, Jill Holman thinks people need to learn more about the so-called “little professor” syndrome so they can understand the odd kid in class.

“I hope people will have a little more empathy that these children are not doing it to get attention or to be difficult,” she said. “They simply function differently than the rest of us do.”

Few or no friends What sets people with Asperger apart is their extreme inability to interact socially. Some people might assume that’s not so debilitating. After all, what’s so bad about a kid who relates better to books and computers than to people? In fact, social skills are huge.

“Childhood competence with peers and friends is a significant predictor” of how well kids do later on in life, said Willard Hartup, a professor emeritus at the Institute of Child Development at the University of Minnesota.

Researchers aren’t the only ones to recognize the value of sociability. In polls, people say social skills and personal character are more important components of career success than academic achievement, according to the opinion research firm Public Agenda.

People with Asperger also are very literal, and don’t get it when people are being sarcastic or humorous.

“The first time I called him ‘dear,’ he looked at me and said, ‘Mom, do I have antlers coming out of my head?’“ Jill Holman recalled.

Other traits of the disorder include clumsy and uncoordinated movements, limited interests or a preoccupation with one topic and repetitive routines. As a result, a person with the malady will often get wrapped up in his or her own world and talk nonstop about one subject.

They also can have a limited repertoire of facial expressions, be hypersensitive to loud noises, odors or food textures, become extremely agitated in new situations and be exceptionally disorganized.

People with Asperger can be highly intelligent, though, which often can mask the disorder and cause it to be misdiagnosed or not diagnosed at all.

“These kids look normal,” Jill Holman said. “But they don’t function normally.”

Diagnoses increasing Figures vary widely, but experts estimate as many as 1 in 300 people has traits of Asperger, a syndrome identified in 1944 by a Vienna doctor but recognized in the United States only since 1994.

Part of the reason no precise numbers exist is because experts don’t universally agree on exactly where Asperger fits in the spectrum of neurological diseases. Some researchers say it is a form of autism, while others classify it as its own developmental disorder.

“The jury is out,” said Ami Klin, an expert on Asperger and an associate professor at Yale University’s Child Study Center. “There is no answer, even in science.”

There is no known cause, but genetics plays a role, he said. Doctors diagnose Asperger based on a behavioral evaluation and Klin said there’s been a significant jump in the number of cases.

Mirroring the national trend, there’s also been an increase in the number of Illinois students identified as having some kind of autism disorder, under which Asperger is categorized.

In 1997-98, there were 2,305 autistic students. By 2001-02, the most current data available, their numbers had increased more than 50 percent to 5,175, according to the Illinois State Board of Education.

Despite more growth, many teachers still might not be familiar with the unusual behaviors the syndrome spawns.

“They can be viewed as rude, stubborn and willful when in reality it’s their disorder that causes the problems,” said Barbara Kirby, author of a guidebook on Asperger. “They are misunderstood, misdiagnosed and mistreated.”

Barbara Sims of the Illinois education board has seen that kind of misunderstanding. One 17-year-old student she worked with was sent to a school for children with behavioral problems after he threatened others and refused to go to gym class.

“It was assumed it was a power struggle by a kid with an emotional problem,” she said. “They tried to force him into doing it.”

Later, it was learned the teen had Asperger and felt overwhelmed by the noise and commotion of gym. He then was moved back into the regular school and provided with special education services.

Treatments can help Adam Holman, now 14, knows what it’s like to be misunderstood.

And few of them want to be his friend, though he says he doesn’t mind. (Others with Asperger do crave friendships).

“I don’t like to be around a lot of other people,” said Adam, who in the fall will be a freshman at Neuqua Valley High School in Naperville. “It really annoys me.”

Instead, he prefers to be alone, playing video games or learning encyclopedic amounts about a particular topic. He has become fascinated - almost obsessed - first with trains, then weather. Now he has a voracious interest in volcanoes. But more than being interested in something, he wants to talk about it constantly, long beyond when others have lost interest.

For example, if he makes a mistake at the bottom of a whole page he’s written, he can’t just erase it. He has to start from scratch, even if it means staying up hours beyond his bedtime.

His mother, Jill Holman, said she tried for years to force her son to adapt and become more flexible - at one point, she eliminated yeast from his diet to see if that would change his behavior - unaware that he was incapable of acting any other way.

She also blamed herself - maybe she had taken a wrong turn in her parenting? “As a mother, I really felt like I had done something wrong with him,” she said.

“It all made sense,” she said. “It was like a huge weight lifted off my shoulder. I could explain it. I knew what he had and I knew why he was different.”

Once the disorder was confirmed, both school and home life became less difficult, she said.

For instance, Adam now gets to leave class a few minutes early so he has time to place each item in his backpack in a specific order. Otherwise, he might become so agitated that he can’t take notes or follow directions in his next class. And teachers have stopped thinking Adam is just being obstinate when he forgets a book or assignment. They also understand when he insists on using a certain pen or pencil, or on sitting in a particular location.

At home, his 13-year-old brother Drew is learning not to spread his papers too far onto Adam’s side of the table, lest it cause a meltdown.

To help other families, Holman last year started her own support group for parents of kids with Asperger.

“It’s such a relief to talk to somebody who knows what you are going through,” she said.

There is no cure for Asperger, but people suffering from the syndrome can get help through a variety of treatments aimed at developing relating skills. They can be taught social and “real- life” skills, as well as how to be better organized and how to handle their anxieties, Klin said.

Adam Holman is undergoing a range of those treatments and his parents hope that he will be able to someday lead a normal life: go to college, get a job, even marry. But nothing is certain.

Malden, Mass. - Police in Malden are investigating the circumstances that led to the drowning of a 5-year-old boy with autism.

Kagua Njenga was found Tuesday night floating face down in the swimming pool of an apartment complex on Main Street. Malden is north of Boston.

Sgt. Mark Mullaney said when the first rescue units arrived, they were met by a group of people who directed them to the pool. But police are puzzled as to why -- apparently -- none of those people tried to go into the pool to get the boy out before officers and emergency medical technicians arrived.

Also unclear is how the boy wound up in the fenced-in pool. An aunt told police that the boy’s mother left him with a neighbor who frequently watched him. The neighbor told police that the boy walked into her apartment last night but left quickly. She also said no one ever asked her to watch the youngster.

Raritan Township, N.J. -- A 4-year-old boy with autism was left on a school bus for five hours in Monday’s 90-degree heat, and the bus driver has been charged with child neglect, authorities said.

The boy, whose name was not released, was among a group of students in a summer program for children with disabilities sponsored by the Hunterdon-Raritan School District, said Capt. Glenn S. Tabasko of the Raritan Township Police Department.

Tabasko said the boy was treated at a hospital for heat exhaustion and released.

Tabasko said the boy was left on the bus inadvertently at 8 a.m., after the driver, John Davis, 57, of Readington, dropped children off for the program’s morning session at the Copper Hill School in Raritan.

Davis then parked the bus in the district’s transportation yard. He returned at 1 p.m. for his afternoon run.

The child was discovered by Copper Hill School personnel who were helping students board the bus for the ride home.

School Superintendent Jack Farr said in a statement Wednesday that the school board could act on his recommendation that the driver be fired at its meeting on July 21.

“It is the driver’s responsibility to check the bus after dropping children off and before picking them up,” Farr said in the statement. “Any driver leaving a student on a vehicle shall be terminated.”

After his arrest, Davis was released pending a July 25 hearing on the child neglect charge.

Davis was not listed in directory information, and Tabasko said he did not know whether a lawyer had come forward to represent Davis.

This morning I received the results of Ian’s upper and lower gastrointestinal biopsies. It was not happy news, but it will help us towards taking action to help our son further. Since the news saddened me, I thought that I would write.

I want to share my feeling that educators and doctors who mislead parents about the real physiological issues facing children with autism, and who disrespect the parents’ efforts to seek quality help in this direction, are doing a disservice to the children who are affected. For example, gastrointestinal issues are not to be nonchalantly regarded as “part and parcel” of autism. The “autism” is not some disembodied entity that brought with it, “lock, stock, and barrel,” gastrointestinal issues. Educators and doctors need to look at how the condition and symptoms of autism -- too often primarily attributed to the psych realm -- are made manifest and/or exacerbated BY the gastrointestinal symptoms. Educators and doctors need to be aware that the gastrointestinal malfunctions were caused by something that went physiologically awry. And then the question needs to be asked, “What caused that?”

This letter is in response to a published interview by Ivanhoe Broadcast News Transcript with Thomas Spencer, M.D., Child Psychiatrist, Massachusetts General Hospital, Boston, Massachusetts. http://www.ivanhoe.com/channels/p_channelstory.cfm?storyid=6518

The transcript included: ‘Does a child’s diet have anything to do with ADHD? Dr. Spencer: Your question about diet was actually formally studied. Everybody had the impression that diet was closely related. If diet was to be a cause of the problem, then if you changed diet, then people would get better, and it hasn’t been shown to be true. Kids with ADHD tend to crave junk food and sugar.

They eat poorly. If you eat a lot of sugar, you’re a little more hyper, but even if you exclude sugar and all these additives and eat a very bland, difficult-to-enforce diet, you don’t improve that much. That was actually tested. There were lots of double-blind controlled studies of that. The American Academy of Pediatrics wrote a position statement saying that there may be a few sensitive individuals, but by and large, diet isn’t a good treatment for ADHD, and it’s not usually part of the cause.’

Response: Science. 1980 Mar 28;207(4438):1485-7. Food dyes impair performance of hyperactive children on a laboratory learning test. Swanson JM, Kinsbourne M.

Forty children were given a diet free of artificial food dyes and other additives for 5 days. Twenty of the children had been classified as hyperactive by scores on the Conners Rating Scale and were reported to have favorable responses to stimulant medication. A diagnosis of hyperactivity had been rejected in the other 20 children. Oral challenges with large doses (100 or 150 milligrams) of a blend of FD & C approved food dyes or placebo were administered on days 4 and 5 of the experiment. The performance of the hyperactive children on paired-associate learning tests on the day they received the dye blend was impaired relative to their performance after they received the placebo, but the performance of the nonhyperactive group was not affected by the challenge with the food dye blend.

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