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PLOS Science Wednesday: Hi Reddit, we’re Joel and Charlotte, and in our PLOS ONE study we identified an EEG signature that may help guide clinical research into autism and other neurological conditions impacting children – Ask Us Anything!
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Hi Reddit, My name is Joel Frohlich and I am a neuroscience PhD student at the University of California, Los Angeles (UCLA) in the lab of Dr. Shafali Jeste. My research uses “brain waves” or neural oscillations to identify quantitative, biological markers (biomarkers) of autism and neurodevelopmental disorders. These biomarkers can be used to guide treatment or inform outcomes in patients. Our lab places electrodes on the scalp to measure neural oscillations in children, a technique known as EEG. My name is Charlotte DiStefano and I am a postdoctoral fellow and clinical instructor at UCLA. My research focuses on cognitive and language development in children with neurodevelopment disorders, including autism spectrum disorder and related neurogenetic disorders. We recently published a paper titled “A Quantitative Electrophysiological Biomarker of Duplication 15q11.2-q13.1 Syndrome” in PLOS ONE. Dup15q syndrome is a neurogenetic disorder caused by partial duplications of chromosome 15. It is one of the most common genetic duplications that causes autism spectrum disorder, and it also confers high risk for epilepsy (i.e., seizures) and intellectual disability (ID). We used EEG to measure a particular frequency of neural oscillation called beta in children with Dup15q syndrome and found that beta oscillations distinguish children with the disorder from other children with autism and ID, as well as healthy children. Remarkably, this EEG signature looks just like the EEG signature seen when a person takes benzodiazepine drugs that bind to and modulate inhibitory neurotransmitter receptors called GABA_A receptors. Because several genes that encode these receptors are duplicated in Dup15q syndrome, we think that this EEG signature might be indicative of GABA_A receptor subunit expression. For this reason, the EEG signature we’ve identified might be useful for guiding clinical trials that target these neurotransmitter receptors. My colleagues and I will be answering your questions at 1pm EST (10am PST). We’re looking forward to discussing our work with these awesome kids. Ask Us Anything! Don’t forget to follow Joel Frohlich on Twitter @joel_frohlich.