Historical Musing: Salt Lake City and Autism

This year’s International Meeting for Autism Research (IMFAR) will be celebrated at Salt Lake City (SLC), Utah. Although unknown to many individuals this city has played a major role in the history of autism within our country. As a result of a responsive state government and a generous community SLC boasts the presence of a Spectrum Academy that covers elementary, middle and high school years with a population of over 500 students. Carmen B Pingree, a major figure in the field of autism, established her headquarters to fight for the rights of autistic individuals in the living room of her home in Salt Lake City. In her honor, a center for learning dedicated to supporting families of autistic individuals now bears her name. For those in need of special services the local government provides for in-home visits that include physical/occupational therapy and speech pathology. Furthermore, the Kosair Pediatric Hospital at SLC is one of the best in the nation. Not the least of advantages, the University of Utah boasts an integrated clinic specializing in autism spectrum disorder. I have been fortunate enough to have attended the inaugural festivities for the Autism Spectrum Academy, visited the Kosair Clinics and have established close working relationships with the members of the Autism Clinic at the University of Utah. When my daughter was looking for a city that would be supportive of the needs of my grandson, I never hesitated in recommending SLC.

At present, however, I would like to talk about the role SLC played in autism research and in clarifying many misconceptions about autism. The story begins in the 1980’s and it still unfolding. It centers around Ed Ritvo, a major figure in the field of autism, who made his academic career while at the University of California, Los Angeles (UCLA). Back then the UCLA Department of Psychiatry was known as the Department of the Ed’s, both for Ed Ritvo and Ed Ornitz. It is fortunate that the interests of these two individuals focused on pervasive developmental disorders with Dr. Ornitz being inclined to pursue the nature of syndromic (often genetic) cases and Ritvo trying to answer epidemiological questions.

Although UCLA had great resources for pursuing most types of research, this was not the case for epidemiological studies. In the 80’s Los Angeles had a population boom that made it difficult to perform epidemiological studies that had to canvas or sample a large percentage of the population. The large number of hospitals and social services agencies provided a logistical nightmare when trying to coordinate any type of research effort among them. It was then that Ed Ritvo met Carmen Pingree who had gone to UCLA in order to get her son evaluated. Carmen was from Salt Lake City where most of the population lived on a narrow corridor that made it rather easy to contact them. Furthermore, a significant percentage of their inhabitants belonged to the Church of Jesus Christ of the Later Days (Mormons) and as part of their religious affiliation the genealogical tree of the population had been carefully preserved across many generations.

Dr. Ritvo used Carmen’s local connections to establish headquarters in SLC for the most comprehensive epidemiological study to date. After screening the majority of the population an identifying potential cases members of Ritvo’s team examined them. The results of the examination along with answers to a screening survey of Dr. Ornitz (consisting of 500 questions) allowed for the identification of 241 cases of autism. Seventeen of these families had two children affected, one family had three, one had four, and one had five autistic children. Furthermore when the parents were interviewed they seemed to fall within the spectrum, some with subtle symptoms, others with a definite diagnosis. Despite the large number of individuals in these families, the odds ration for a sibling having autism was calculated as being only 10%. It may be important to note that this odds ratio may have been be artifactually lowered as many families with an autistic child seemingly decided to stop procreation immediately after their child received a diagnosis.

It is striking that such an important study received acerbic criticisms from journal reviewers. According to Dr. Ritvo, the publication was rejected seven times before finally being accepted. Back then a common misconception was that autistic children would not be able to grow up, get married and have children. Besides battling this misconception the study underlined other important findings. In very detailed analysis autistic children as compared to neurotypicals had the same rate of colds, ear infections, allergies, vaccinations, immune deficiencies, celiac and digestive disorders. Although a lot has been said about vaccines and immune deficiencies in autism, the UCLA-Utah study found no evidence that these were correlated.

Another major finding of the early study was the heterogeneity of symptoms in affected individuals. Although some exhibited symptoms of classical Kanner’s autism others were quite subtle. These subtle cases were called subclinical or “forme frustres”.

The original study is still ongoing and occasional publications of this cohort have appeared over the years. These ongoing studies have revealed that often “classical” cases can transform into the subtle variants (Asperger). In this regard Dr. Ritvo has been as strong advocate that Asperger and autism differ in severity but not in kind. More recently the study of Dr. Ritvo has prompted other researchers to study the genetics of families having more than one affected individual. In this regard Dr. Ritvo’s legacy will keep growing over the years.

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