Scientists Track Adult Regression in Autism Syndrome

BobbieRae Straub is 35 years old. When she meets someone new, her eyebrows move wildly up and down. She knows only a few words, and frequently shakes her wrists and flicks her tongue through her lips. Her condition had been fairly stable since she was a toddler, according to her mother and caretaker, Deborah. Then last year, things changed dramatically.BobbieRae had a few grand mal seizures — defined by muscle spasms and a loss of consciousness — despite having been on the same epilepsy medication for decades without incident. She also showed wide swings in energy: Some days she slept most of the time, others she was too hyper to take to the store. Most traumatic for Deborah, BobbieRae started having trouble swallowing. One morning her mother rushed her to the hospital after discovering fluid in her lungs. She had pneumonia. "She almost died, and she'd never really been sick before," Deborah says.Deborah first learned the genetic cause of her daughter's problems two years ago, when geneticists near their home in Grand Rapids, Michigan, screened BobbieRae's DNA and found a deletion at the end of chromosome 22. This genomic segment includes SHANK3, a well-known candidate gene for autism.On the Internet, Deborah found a name for her daughter's genetic glitch — Phelan-McDermid syndrome — and a large family-support group, the Phelan-McDermid Syndrome Foundation. Earlier this week, she brought BobbieRae to the group's annual conference in Orlando, in hopes of learning more about the science behind this extremely rare disorder.Read more at...SFARI, July 2012.