Three-year-old Naomi slaps her forehead a few times, bites her fingers, and toddles across the doctor’s office in her white and pink pajamas before turning her head into a door with a dull thud. Her mother quickly straps on a helmet and adjusts the rainbow chinstrap, then watches as Naomi puts a hand back in her mouth and continues exploring the room. “She keeps me busy,” acknowledges her mother, Laura Elguea. Naomi was diagnosed at age 2 with Rett syndrome, a rare, debilitating disease in which patients progressively lose brain function and the ability to walk. While she laughs, smiles, and toddles around like most 3-year-olds, Naomi’s repetitive hand behaviors offer clues to her condition. Relatively little is known about the neuronal causes of Rett syndrome, but University of Texas (UT) Southwestern Medical Center scientists have now identified a process in the brains of mice that might explain the repetitive actions – research that could be a key step in developing treatments to eliminate symptoms that drastically impair the quality of life in Rett patients. The finding from UT Southwestern’s Peter O’Donnell Jr. Brain Institute could also potentially benefit people with autism spectrum disorder, though more research is needed to evaluate the link to this disease in humans. “We are exploring the processes that contribute to Rett syndrome in an effort to develop treatments that may prove useful in the disease,” said Dr. Lisa Monteggia, Professor of Neuroscience with the O’Donnell Jr. Brain Institute, who led the research published online on Septembder 28, 2016 in Nature Neuroscience.
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