Gene and autism traits are linked
Find shows links to issues with touch, pain in autistic children
Mom helped Florida scientist find connection with gene mutation.
Through the help of a concerned mother and the power of social media, a Scripps Florida scientist has linked autism traits, and the different processing of pain, to a gene mutation.
The discovery could be a strategy for treating or even curing the genetic causes of autism, and will be part of a scientific conference being held this week at the Jupiter-based research institute.
Scripps is looking to develop potential drugs to bring gene protein levels up to normal, said neuroscientist Gavin Rumbaugh dur-
ing a Facebook Live event on Monday.
For nearly five years, Rumbaugh has been collaborating with a patient advocacy group formed by Monica Weldon of Cypress, Texas, whose 10-year-old son, Beckett, has never experienced pain the way his fraternal twin sister, or other children, do.
“I knew it at 4 months when he wasn’t keeping up with the milestones with his sister, that something was just not right,” Weldon said. Her son was diagnosed with the mutant gene in 2012.
Weldon took to Facebook and other social media to find people with the same sensory issues, and developed a patient registry that could be used by scientists.
While Beckett had signs of autism, he had other symptoms that were not typical: “His pain threshold was so high,” Weldon said. “He walked around with a broken finger for four days, and we didn’t know it was broken.”
After analysis of patient data and a series of experiments in animals, Scripps research institute discovered a gene mutation that leads to disordered touch and pain processing. The results were recently published in the journal Nature Neuroscience.
People usually are born with two of the genes critical to healthy brain development. Children born with only one working gene are known to have symptoms including autistic traits, epilepsy and intellectual disability, according to the article. The gene mutation could explain a paradox where such patients may not be bothered by certain pains, but can react strongly to other stimuli.
While Weldon’s son ignored dog bites or skin burns, the sights and sounds of a simple trip to the grocery store overwhelmed him, Weldon said.
“Nothing could relieve him of the over-stimulation,” she said. “He was constantly screaming in the car. You couldn’t go anywhere because of the screaming. We had ear plugs in the house.”
Rumbaugh, who had been studying the gene but didn’t realize there was a link to autism, has learned “it’s very important to engage with families” as a researcher.
“We think that it’s likely that the sensory deficits that these children experience contribute to their altered learning and thinking,” Rumbaugh said.