Summer 2012

Interdisciplinary Advances Improve Prospects for Autism

As awareness of the prevalence and devastating effects of autism grows, interdisciplinary approaches are helping physician scientists better understand causes and devise more effective treatments.

This is the thinking behind the new Autism Neurogenetics Clinic, which brings together autism experts from multiple specialties to provide innovative assessment and treatment. The clinic is part of the Pediatric Brain Center at UCSF Benioff Children's Hospital.

Clinically Integrated Care

Dr. Elysa Marco

Dr. Elysa Marco

"Autism has many etiologies," says neurologist Elysa Marco, M.D. "Some are genetic and some are environmental exposures. By having specialists in genetics and neurology seeing patients together and conducting a comprehensive evaluation, we can get at the cause in about 25 to 30 percent of cases, and then tailor our therapies."

She notes that if metabolic and genetic factors underlie the behavioral autism traits, then other organ systems may be affected as well. This understanding will dictate further targeted evaluations as well as specific treatments. For example, there are now targeted dietary treatments available for a growing number of identified metabolic conditions.

"In addition, about 30 percent of patients with autism also have epilepsy — and, generally, a common genetic cause — which will dictate specific treatments and support services," says Tony Wynshaw-Boris, M.D., Ph.D., chief of Medical Genetics at UCSF Benioff Children's Hospital.

Dr. Tony Wynshaw-Boris

Dr. Tony Wynshaw-Boris

The providers at the UCSF Autism Neurogenetics Clinic suggest that any child who presents with delays in language development or social relatedness should have a comprehensive evaluation for the underlying cause of the neurodevelopmental challenges. This evaluation — tailored to the individual and his or her family — often includes a detailed assessment of brain function, metabolic regulation and genetic profile.

The clinic also works hand in hand with the expert psychologists and psychiatrists at the UCSF Langley Porter Psychiatric Hospital's Autism Clinic who conduct comprehensive diagnostic, education and behavioral evaluations. Treatment plans reflect this interdisciplinary approach.

Access to Latest Research Findings and Clinical Trials

Another advantage to an integrated approach within an academic medical center is that identifying causes can contribute to existing research efforts or lead to new ones — and some patients will immediately benefit from ongoing clinical trials.

Brain imaging for autism

In some cases, brain imaging can
reveal causes autism traits.

"For example, fragile X syndrome is associated with autistic-like behaviors, and there are clinical trials with compounds that might improve aspects of these patient's neuronal dysfunction," says Wynshaw-Boris.

In addition, under the direction of Elliott Sherr, M.D., Ph.D., a physician at the clinic, UCSF is conducting a national multi-site study to understand the cognitive, behavioral and neuroimaging hallmarks of one of the most common genetic contributing factors to autism — 16p11.2 deletion / duplication syndrome.

Marco says, "As severe and debilitating as autism can be, most families and clinicians want to leave no stone unturned."

Wynshaw-Boris says, "This clinic is about understanding and finding the cause of each child's autism, with a focus now and in the future. Some causes are treatable today, and in other cases, there will be treatments developed, which we can apply as they come down the pike."

For more information, contact Dr. Elysa Marco at (415) 502-7317 or Dr. Tony Wynshaw-Boris at (415) 476-5184.

Related Information

News Releases

Measuring Bone Age for Crohn's Disease in Children
Measuring bone age should be a standard practice in the care of children with Crohn's disease, according to a study by researchers at UCSF Benioff Children's Hospital. It is one way to identify active inflammation and appropriately treat the disease, when other classic intestinal symptoms are not apparent.

UCSF Joins Consortium to Test Pediatric Cancer Drugs
UCSF has been accepted into the Children's Oncology Group Phase 1 Consortium, an elite National Cancer Institute consortium of institutions selected to lead Phase 1 studies of potential pediatric cancer drugs. UCSF is one of only two Phase 1 institutions in California, and one of only 21 centers in the United States and Canada.

Mission Bay Reaches Fundraising Milestone
The new UCSF Medical Center at Mission Bay achieved a major milestone, surpassing the $400 million mark in philanthropic gifts. This brings the campaign more than two-thirds of the way to its $600 million goal.