Mark Schapiro, MD
We previously showed differences in neural activation during language processing in adolescents and young adults with Down syndrome in comparison with typically developing individuals matched for chronological age. We now show that activation in the adolescents and young adults with Down syndrome differs significantly in magnitude and spatial extent when compared with both chronological and mental age-matched typically developing control groups during a story listening task. These results provide additional support for an atypical pattern of functional organization for language processing in this population.
Reference: Jacola LM, Byars AW, Hickey F, Vannest J, Holland SK, Schapiro MB. Functional magnetic resonance imaging of story listening in adolescents and young adults with Down syndrome: evidence for atypical neurodevelopment. Journal of Intellectual Disability Research, in press.
Movement disorder (Donald Gilbert, MD and Steve Wu, MD)
ADHD/ Tourette Syndrome: We have two ongoing NIH-funded studies of motor cortex physiology as a biomarker of behavioral control impairments and of pharmacological treatment responses in ADHD.
Neuroplasticity: Long Term Potentiation/Depression: Dr. Steve Wu has led a series of exciting studies piloting new methods of using Transcranial Magnetic Stimulation to study long term potentiation and long term depression in motor cortex.
Tourette Syndrome Genetics: We are a site in a new, international, NIMH funded collaborative study of genetics of Tourette Syndrome.
Clinical Trials in Tourette Syndrome: We just completed a phase 2a study of a new pharmacological treatment for Tourette Syndrome, and we are participating in an ongoing study.
Tuberous Sclerosis (Darcy Krueger, MD, PhD and David Franz, MD)
The TSC Center, led by Drs. Franz and Dr. Krueger, has seen considerable expansion in both clinical care and research projects in 2013, building on similar successes of 2012. In 2013 alone, two major NIH-funded research studies and one major multicenter phase III clinical trial were officially launched. Major publications by the group included manuscripts in high-impact journals such as Lancet, Annals of Neurology, PlosOne, and Chest.
Epilepsy (Tracy Glauser, MD; Todd Arthur, MD; Hans Greiner, MD; Barb Hallinan, MD; Katherine Holland, MD; Sejal Jain, MD; Diego Morita, MD; Douglas Rose, MD; Shannon Standridge, MD; Jeff Tenney, MD; Cameron Thomas, MD)
The Comprehensive Epilepsy Center discoveries ranged the entire spectrum from clinical trials results through epilepsy surgical evaluation techniques to animal models of epileptogenesis. In the ongoing NIH funded Childhood Absence epilepsy study, 12-month outcome data from the double blind portion of the study confirmed that ethosuximide is the optimal initial empirical monotherapy for CAE and established this study as the first randomized controlled trial meeting International League Against Epilepsy criteria for class I evidence for any type of generalized seizure in adults or children. In addition, this study reported the EEG characteristics of untreated Childhood Absence Epilepsy along with the associations between specific EEG findings and baseline measure of attention and short term outcome. The surgical epilepsy team identified that ictal high-frequency oscillations are commonly seen with intracranial EEG and have localizing value. Complete resection of the high-frequency oscillations region was a favorable prognostic indicator for surgical outcome. Lastly, using a transgenic mouse model, the epilepsy basic scientists discovered that deletion of PTEN from postnatally generated dentate granule cells led to hyperactivation of the mTOR pathway and subsequent spontaneous seizures, confirming that these abnormal dentate granule cells can cause epilepsy.