Illinois Medicine

K EOPLE WITH AUTISM tend to carry more submicrosco- pic insertions and dele- tions—called copy-number variants—in their genome than nonautistic people do, GIVING PATIENTS A VOICE Clinic eases challenges of head and neck cancer with multidisciplinary patient-centered approach RISTEN PYTYNIA, MD, describes a cancer patient who had two options: undergo chemotherapy and radiation and keep his voice box, or remove the voice box and possibly improve his swallowing. To this particular patient, knowing all the cancer was removed and having the ability to swallow mattered more than saving the voice box. "That's something we can't choose for the patient," says Pytynia, assistant professor of otolaryngology at the College of Medicine. "And that's why it's important to have all of us involved—to give patients all the options and let them decide." The new Head and Neck Can- cer Clinic at the University of Illinois at Chicago helps patients navigate the special problems such cancers pose by bringing together oncologists and otolaryngology surgery specialists. To maximize chances of both survival and the highest possible quality of life, a team approach is necessary, including the surgeon, medical oncolo- gist and radiation oncologist. They sometimes tap experts from fields such as speech pathology, dentistry, oral surgery, plastic surgery and other services. The special challenges of head and neck cancer are "huge," says Lawrence Feldman, MD, associate professor of medicine in hematology/ oncology. "Our patients may not be able to eat, swallow, talk—or even breathe. I think often even doctors don't appreciate all the challenges of these cancers." "We are concerned with manag- ing and maintaining all the vital func- tions—speech, swallowing, breath- ing—both during and after treatment," Pytynia says, a reflection of the long- term care the UIC clinic offers. The clinic currently handles about 1,500 patient visits a year and plans to expand; 76 percent of the tumors the clinic sees are advanced stage, Feldman says. The initial treatment can take as much as four months—first surgery, with a six-week recovery period, followed by six to eight weeks of chemotherapy and radiation, then supportive services as needed. Tumors are most likely to come back in the first year, according to Feldman. "We see patients every six to eight weeks for the first year," he says. "Then, we slowly ease back, and by the time they are four or five years out from the original diagnosis, we'll see them once a year. Our involvement with patients is really a commitment for the rest of the patient's lifetime." P UNLOCKING AUTISM'S MYSTERIES consortium, which conducted its re- search with help from Autism Speaks, an autism science and advocacy organization. The findings are based on analy- according to new research from the Autism Genome Project, an internation- al consortium that includes University of Illinois at Chicago researchers. The consortium report, published in the June 10 issue of the journal Nature, shows that some of these CNV appeared to be inherited, while others are found only in affected offspring and not in the parents. Taken together, more of the CNVs disrupt genes previously implicated in intellectual disability than would be expected by chance, according to the sis of high-density genotyping data collected from 1,000 individuals with autism spectrum disorder and 1,300 without ASD. The study also identi- fied new autism susceptibility genes, some that belong to synapse-related pathways and others that are involved in cellular proliferation, projection and motility, and intracellular signaling. The findings further support an emerging consensus that autism is caused in part by many "rare variants" or genetic changes found in less than 1 percent of the population. Each of these variants may only account for a small fraction of the cases, but collectively they account for a signifi- cant percentage of individuals in the autism community—and provide further insights into possible common patho- genic mechanisms. "These results are another step on 6 | WINT ER 2 011 Researchers report genetic findings that support new theories on the causes of this mental disorder the long path to sufficiently understand- ing autism to further develop treatments for the core symptoms of autism," says Edwin Cook, MD, UIC professor of psychiatry. "We continue to work to understand the genetics, neurobiology and treatment of autism."

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