By Erin Allday (From the San Francisco Chronicle)
When her son was diagnosed with a rare chromosome defect three years ago, it was something of a relief for Theresa Mahar.
Finally, she had an explanation. Christopher, now 14, had obvious developmental delays and intellectual disabilities. He had behavior problems and struggled in school. He'd been assigned so many diagnoses over the years - almost all of them related to autism - that it was sometimes hard to keep up.
Then a genetic test revealed the defect to chromosome 16 - one of the 23 chromosomes that make up every person's DNA - and it explained, perhaps, the cause of Christopher's autism.
"It's something to hold on to," Theresa Mahar said. "It's something to blame."
Mahar and her family came to San Francisco from Hillsboro, Ore., to participate in an unusual study at UCSF - to map in great detail the brains of people who have a defect to chromosome 16.
The study is one of the first in which autism researchers are narrowing their focus into one of the few known causes of the disorder. That's important, scientists say, because autism is such a difficult condition to define - the symptoms can vary widely from patient to patient, and the causes are often impossible to determine.
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Note: A donation from the Platt-Ross Foundation made possible a collaboration between CTSI's Clinical Research Services/Pediatric Clinical Research Center (PCRC) and the Benioff Children’s Hospital/Child Life Services to improve the experience for children and families in hospitals, and to facilitate research in the PCRC. In the case of the study related to the above story, a Child Life Services specialist prepared children for hospital stays and provided resources for their families during visits to the CRS-PCRC. Child Life Services also hosts programming such as a patient schoolroom, playroom, musician-in-residence and computer room. This support was valuable in making possible the care for children in a research study conducted by Dr. Elliott Sherr, to understand the biology of patients who have chromosomal deficiencies associated with autism and other neurodevelopmental disorders, for which UCSF was chosen as one of two comprehensive imaging centers. With support from the Platt-Ross Foundation the care of patients and families was made a priority, and also played a key role in ensuring Dr. Sherr’s study’s success by reducing the time needed to advance this important study.