Changing the face of autism

For generations of Montreal Canadiens fans, the corner of Ste-Catherine and Atwater is a place where history was made. Now, that same neighbourhood is home to a new kind of history thanks to the work of Dr. Eric Fombonne, Former head of the Division of Child Psychiatry at the Montreal Children’s Hospital of the McGill University Health Centre (MUHC). Fombonne’s findings disproving the link between childhood inoculations and autism have broken new ground and made recent headlines following years of unrelenting research dedicated to helping understand one of medicine’s most mysterious illnesses.

As a young man, Fombonne began his post-secondary schooling with no intention of becoming a medical doctor. This soft-spoken Parisian with an easy laugh and dry sense of humour initially planned to enter the engineering programs of the prestigious Grandes écoles de France, but soon felt dissatisfied with his chosen field and elected to pursue medicine instead. “I wasn’t interested in following the regular path,” he recalls. “I was interested in the personal relevance of my work—I wanted to have an impact on people.”

Fombonne, the first in his family to attend university, found that medical school “wasn’t enough of a challenge,” so he took up an assistantship that involved overseeing data analyses for medical trials. There, he learned the research skills that would lay the foundation for his later work. He also began to focus on child psychiatry because, he says, “I was interested in looking at how childhood development can predict adult behaviours. Working with children isn’t only intriguing and complex, I find it more intellectually demanding than working exclusively with adults.”

After a serving with the French military in the West Indies and following what would turn out to be an influential year in Montreal working at L’Hôpital Sainte-Justine, Fombonne returned to his homeland. However, he soon became frustrated with a medical system that, compared with the evidence-based practices he had discovered in North America, lacked scientific rigour. He decided to concentrate on research rather than clinical work, eventually executing a groundbreaking epidemiological study of child psychiatric disorders with funding from the prominent Institut national de la santé et de la recherche médicale (INSERM).

Fombonne was pleased with the study because, he says, “I was allowed to do my own thing. It was a huge undertaking for a little guy like me who was working alone, and who was one of the first in France to take a scientific rather than sociological approach to child psychiatry.”

It was while with INSERM that Fombonne became fascinated by autism. When social groups challenged the French government to improve the quality of life of autistic individuals, Fombonne, with his reputation for conducting rigorous investigations, was asked to help. He devised a project that focused on autism research and treatment at several healthcare centres, and throughout the late 1980s his clinical research gained renown.

Yet, Fombonne remained dissatisfied with the French research model and decided once again to reposition himself, this time in London where he spent a sabbatical year working with Sir Michael Rutter, the founding father of child psychiatry. His experience in England was so positive that when Rutter offered him a senior research position, Fombonne and his family moved across the Channel. “It was a complicated decision, but in terms of my career it was hard to refuse,” he says.

Fombonne took on the challenge of running Rutter’s national clinical team on autism. In 1998, he became even busier when a study published in the Lancet by gastroenterologist Dr. Andrew Wakefield changed everyone’s ideas about autism. The study claimed that the measles-mumps-rubella (MMR) vaccine increased the risk of autism in children. It caused a huge upset in the UK, and a team of scientists, including Fombonne, was handpicked by the Medical Research Council of the United Kingdom to investigate the findings.

Of his work on the case, Fombonne says, “The studies we published had a very strong impact worldwide in terms of dismantling the claims against the MMR vaccine.” His work also catapulted him into a media frenzy, something he was initially reluctant to be part of. “But I had no choice,” he says, “be-cause I was one of the few who could answer the scientific questions at the core of the controversy. I couldn’t just stay in my ivory tower and say ‘I’m not involved.’ ” The turning point, he says, “came when I saw that the claims about the vaccine had changed people’s behaviour. Children were dying be-cause fewer vaccines were being given and parents had forgotten that measles can be a killer. It became obvious that scientific evidence had to be communicated efficiently for this debate to be resolved.”

In the middle of the controversy Fombonne received a call from the Montreal Children’s Hospital of the McGill University Health Centre with another opportunity for a major life and career change. Though happy in London, he had three teenage sons who were all keen to attend American universities. While it was a difficult decision to make, Fombonne realized that it was time to try something new. He was also eager to experience the flexibility and fast pace that working in North America would bring him. “ I think that for the Children’s, the MUHC model reflects an ideal integration of research and clinical care, which leads to the kind of interdisciplinary work I’ve long championed.” At the Children’s, Fombonne continued working to disprove the connection between the MMR vaccine and autism, and in 2004 he published a study in the Lancet that definitively refuted it. Soon after, he was drawn into another controversy surrounding claims of a link between autism and thimerosal, a product used to sterilize vaccines and known to contain small traces of mercury. According to Fombonne, there is absolutely no link between thimerosal and autism, and he has stated publicly that the perceived higher rates of autism are a result of a combination of factors, including improved recognition of the symptoms by physicians. Nonetheless, 5,000 families who believe there is a link between autism and thimerosal are looking for compensation from the US government. In Fombonne’s opinion, “This is the collision of science and social policy. I hope that once this has gone to trial concerns over vaccines will end, but it may take years before public confidence is restored.”

Fombonne’s involvement in such high-profile cases is a significant part of his work, but his clinical research and teaching duties never take a back seat. When he arrived at the Children’s in 2001, there was already a small autism clinic in place. Under Fombonne’s management it has become the most important autism clinic in Quebec, where hundreds of patients from birth to young-adulthood are assessed every year.

He also established a small adult clinic that has become a resource for psychiatrists who encounter people in their twenties who might be autistic but have never been diagnosed. “It’s the lifelong approach to care that we have at the MUHC that makes this kind of work possible,” he says. Fombonne points out, however, that his team is understaffed. “We work hard, but it would be great to have more support. There are 420 patients on our waiting list, and that’s far too many.”

Fombonne is especially proud of a social-skills training program for high-functioning autistic teens that he began with his colleagues and discusses in a paper recently published in the Journal of Autism and Developmental Disorders. Since 2002, children have been coming to the after-school clinic to learn conversational, social and behavioural skills. Fombonne smiles when he thinks of their sessions. “The kids just enjoy it. They become friends and maintain relationships after it’s finished.”

The program’s success inspired Fombonne to create a summer camp for autistic kids. Located on a farm in the Eastern Townships, the camp provides week-long sessions for groups of six to eight children and their instructors. If enough funds are raised, the coming summer will be the camp’s third year. For Fombonne, it is a welcome change from clinical work. “It’s so touching when these kids have the chance to go to camp,” he says. “Often, it’s their first time in the country and their first time spending nights away from home. I hope the camp can continue for years to come.”

Fombonne also looks forward to continuing his work at the Children’s. He is especially hopeful that the Redevelopment Project will allow for the type of positive evolution that has defined his career. “I think that for the Children’s the MUHC model and the evolution that will be possible with the redevelopment project will reflect a better integration of research and clinical care, which will lead to the kind of interdisciplinary work that I’ve long championed. Getting there will be a difficult path, but the results will be so rewarding that we have no choice but to walk it.”