In addition to our regular CRI Activities Update, this month’s Research Focus highlights the research and work of Stephen Hooper, PhD, the Associate Dean of Allied Health Sciences, Chair of the Department of Allied Health Sciences and Professor of Psychiatry, Psychology, Pediatrics, and Education at the University of North Carolina at Chapel Hill. Dr. Hooper is also an Adjunct Professor in the Department of Psychiatry and Behavioral Sciences at Duke University Medical Center.

Activities Update:

The Children’s Research Institute would like to extend a warm welcome to Miriam Davis, RN, BSN, CCRP; the new Director of Clinical Trials in the Department of Pediatrics. In this role, Miriam will lead our initiative to support and grow human subjects research within the Children’s Research Institute. We are looking to hire one full-time coordinator and are starting with a few test trials while we build our processes. These resources will assist divisions and investigators performing clinical research and generating evidence-based care for our pediatric population. We are also networking with similar initiatives to promote human subjects research within the university (i.e., NC TraCS and the Office of the Vice Chancellor for Research). Miriam comes to UNC from the division of Pediatric Pulmonology, Allergy and Sleep Medicine at Indiana University’s School of Medicine.

The CRI will be participating in the UNC Science Expo on Saturday, April 6, 2019 from 11am-4 pm, which is hosted by the Morehead Planetarium and Science Center. In 2018, the Expo featured over 200 booths from departments across the University and attracted 14,000 visitors. We are collaborating with the UNC Institute for the Environment and will host a booth focused on research in child health. We are beginning to solidify plans but there is still time for you to get involved. If you have research you would like shared with the local community, please bring us your ideas. Also, if you know of a student who would like to volunteer at the booth, please send them our way. You can read more about the Science Expo by visiting their website.

As a reminder, we have finalized our seminar schedule for Spring 2019. You can browse upcoming and past speakers for the seminar by clicking here.

The move to Mary Ellen Jones is expected to take place this spring as well, targeted for April and May for our CRI investigators. We are excited to have a physical location to complement our virtual presence, and a place for researchers focused on pediatric health to collaborate and share critical resources.

Reminder: Stephen Hooper, PhD will be presenting “22q11.2 Deletion Syndrome in Children: Beyond Schizophrenia” at our next CRI luncheon seminar series. This event will be held on Tuesday, February 12, from 12:15-1:30pm in the Bioinformatics Auditorium (room 1131). Please mark your calendars. We look forward to seeing you there.

Research Focus of the Month:

Stephen Hooper, PhD

Stephen Hooper, PhD, the Associate Dean of Allied Health Sciences, Chair of the Department of Allied Health Sciences and Professor of Psychiatry, Psychology, Pediatrics, and Education, has a long-standing interest in the neurobiological bases of childhood disorders. This includes phenotypic neurocognitive functioning, development of early childhood intervention treatments, and measuring efficacy of such treatments using neurocognitive outcome measures. Along with colleagues in the Pediatric Division of Medical Genetics at Duke University Medical Center, Dr. Hooper has utilized longitudinal and cross-sectional designs focusing on neurocognitive phenotypes in children with 22q11.2 Deletion Syndrome. 22q11.2 Deletion Syndrome earned its name because, in most cases, the syndrome is caused by the deletion of a small part of chromosome 22 at a location known as q11.2. The condition is one of the most common genetic disorders and is the most common chromosomal microdeletion in humans. Because patients with this syndrome are affected in many different ways, this syndrome is likely under recognized and underreported, with incidence rates being 1 out of 2,000 to 4,000 live births. Clinical variability in the expression of 22q11.2 includes cleft palate, congenital heart anomalies, distinctive facial features, autoimmune disease, kidney abnormalities, hearing loss, short stature, cognitive impairment, and psychiatric disorders. In particular, the development of schizophrenia spectrum disorders in adolescence and early adulthood is common, occurring in approximately 25% of patients. While many other psychiatric disorders also can be common, they are often underdiagnosed and undertreated.

Through neurocognitive, neuropsychiatric, and both structural and functional neuroimaging, Dr. Hooper and colleagues have worked to provide more detailed descriptions of children with 22q11.2 Deletion Syndrome, and to further examine the underlying neurological mechanisms for neurocognitive and neuropsychiatric impairments seen in these patients. This has led to advances in treatment and interventions for the cognitive impairments and social difficulties manifest in these patients. Through colleagues at Duke University, Dr. Hooper also works with the International Brain Behavior Consortium, a group of 22 institutions worldwide that is analyzing genotypes and neurocognitive functions in patients with 22q11.2 Deletion Syndrome, to explore phenotypic presentations and associated genotype linkages for this complex disorder.

Recent publications from Dr. Hooper and related links are below:

UNC Department of Allied Health Sciences
International Brain Behavior Consortium
Pub Med

Niarchou, M., Chawner, S., Fiksinski, A., Vorstman, J.A.S., Schneider, M., Eliez, S., Armando, M., Pontillo, M., McDonald-McGinn, D.M., Emanuel, B., Zackai, E., Bearden, C.E., Shashi, V., Hooper, S.R., Owen, M.J., Gur, R.A., Wray, N.R., van den Bree, M.B.M, Thapar, A., & the International 22q11.2 Deletion Syndrome Brain and Behavior Consortium (in press). Attention Deficit Hyperactivity Disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 Deletion Syndrome. Schizophrenia Research.

Harrell, W., Keshavan, M.S., Hooper, S.R., Schoch, K., & Shashi, V. (2017). Frontal hypoactivation during a working memory task in children with 22q11 deletion syndrome. Journal of Child Neurology, 32, 94-99.

Vorstman, J.A.S., Breetvelt, E., Duijff, S.N., Jalbrzikowski, M., Gesu, B., Shashi, V., Hooper, S.R., Vogels, A., Swillen, A., Gur, R.E., Bearden, C.E., Kahn, R.S., Bassett, A.S., & the International 22q11.2 Brain Behavior Syndrome Consortium (2015). Cognitive decline preceding the onset of psychosis in patients with 22q11.2 Deletion Syndrome. Journal of the American Medical Association, 72, 377-385.

Shashi, V., Harrell, W., Eack, S., Sanders, C., McConkie-Rosell, A., Keshavan, M.S., Bonner, M.S., Schoch, K., & Hooper, S.R. (2015). Social Cognitive Training in adolescents with Chromosome 22q11.2 Deletion Syndrome: Feasibility and preliminary effects of the intervention. Journal of Intellectual Disabilities Research, 59, 902-913.

Schneider, M., Debbane, M., Van den Bree, M., Owen, M. Bassett, A., Kates, W., McDonald-McGinn, D., Vorstman, J., Gothelf, D., Van Amelsvoort, T., Shashi, V., Hooper, S.R., Bearden, C., Chow, E., Armando, M., Campbell, L., Ousley, O., Simon, T., & Eliez, S. (2014). Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome (22q11DS) results from the psychiatric platform of the International 22q11.2 Deletion Syndrome Consortium. American Journal of Psychiatry, 171, 627-639.

Hooper, S.R., Curtiss, K., Schoch, K., Keshavan, M.S., Allen, A., & Shashi, V. (2013). A longitudinal examination of the psychoeducational, neurocognitive, and psychiatric functioning in children with 22q11.2 deletion syndrome. Research in Developmental Disabilities, 34, 1758-176

Harrel, W., Eack, S., Hooper, S.R., Keshavan, M.S., Bonner, M.S., Schoch, K., & Shashi, V. (2013). Feasibility and preliminary efficacy data from a computerized cognitive intervention in children with chromosome 22q11.2 deletion syndrome. Research in Developmental Disabilities, 34, 2606-2613.