Lab focuses on genetic causes of cognitive impairments
|Tony Simon, associate professor of psychiatry and behavioral sciences, leads the new Cognitive Analysis and Brain Imaging Laboratory at the UC Davis M.I.N.D. Institute. He is one of just a few researchers worldwide contributing to knowledge of chromosome 22q11.2 deletion syndrome.|
Discovering how the brains of children with neurodevelopmental disorders differ from those of their typically developing peers is the focus of the new Cognitive Analysis and Brain Imaging Laboratory at the UC Davis M.I.N.D. Institute. Children from around the nation are increasingly coming to the lab to participate in research that aims to better understand genetically based cognitive impairments and to discover new treatments that can reduce or eliminate challenges for patients.
Directed by developmental cognitive neuroscientist Tony Simon, the lab's research team uses specially designed tests and state-of-the-art imaging technology to better characterize the neural structures and functions of the brains of children with genetic syndromes such as chromosome 22q11.2 deletion, fragile X, Turner and Williams. Simon is one of only a handful of researchers worldwide studying chromosome 22q11.2 deletion syndrome, a relatively common genetic disorder caused by the deletion of a small segment of the long arm of chromosome 22 and linked to over 180 physical, psychological and behavioral anomalies.
Throughout his career, Simon has been interested in the connective patterns of early brain development. His influential discovery that mathematical and similar types of thinking involve specific attentional, visuospatial and object competencies usually acquired in infancy led him to chromosome 22q11.2 deletion. The syndrome limits the effectiveness of these competencies in young minds, hypothesized by Simon to be partly due to posterior parietal dysfunction.
“I'm excited about the opportunity to merge the best of science, technology and clinical practice to go beyond the 'what is happening' with 22q and instead understand the 'how it is happening' — which really is the only way to develop interventions that work,” said Simon, who regards the children who visit his lab as his inspiration. “I get to work with a lot of fabulous kids — and truly look forward to the discoveries we'll make that will turn their lives around.”
|Keri Reigle participated in research that will lead to better understanding of how 22q11.2 deletion syndrome affects brain function.|
Parent inspired. Science driven.
In 1998, dedicated families concerned about autism turned their hope for answers into a house of dreams — the UC Davis M.I.N.D. Institute. Since that time, the institute has transformed that initial inspiration into significant contributions to the science of autism, fragile X syndrome,22q11.2 deletion syndrome, learning disabilities and other neurodevelopmental disorders that can affect a child’s lifelong potential.
The M.I.N.D. Institute's unique multidisciplinary approach is already achieving outcomes. Research teams that include neuroscientists, immunologists, geneticists, molecular biologists, environmental toxicologists, child psychologists and developmental pediatricians are identifying:
For more information about M.I.N.D. Institute researchers, current studies and upcoming events, please visit the Web at: www.ucdmc.ucdavis.edu/mindinstitute/.
One recent visitor to the lab is 8-year-old Keri Reigle. Born with a major heart defect, she required a ventilator at first to breathe and surgery at 12 days old. Later, she experienced severe feeding problems, requiring a g-tube for nourishment. In school, Keri has received special interventions for speech and attention concerns. Amazingly, the range of issues she has endured can be linked to one disorder: chromosome 22q11.2 deletion.
“This has been my journey with her since the day she was born,” said Keri's mother, Pamela Reigle, who has had difficulty finding specialists who can help support her daughter's medical needs and has had to educate Keri's teachers about the syndrome. “I've spent a lot of time on the Internet seeking help from other families with similar experiences.” It was through an online support group that Reigle learned about the new M.I.N.D. Institute lab.
Also called velocardiofacial syndrome or DiGeorge sequence, chromosome 22q11.2 deletion is estimated to affect one in 4,000 children, all of whom experience some degree of developmental delay and learning difficulties. Some of those children also have congenital heart defects, cleft palate or velopharyngeal insufficiencies, immune deficiencies or neonatal hypocalcemia. All of those children have increased risk factors for attention deficit hyperactivity disorder, autism spectrum disorders, oppositional defiant disorder, obsessive-compulsive disorder and schizophrenia. Knowledge of the syndrome has developed slowly, but efforts are now stepping up thanks to funding to Simon's lab from the National Institutes of Health and the M.I.N.D. Institute's commitment to expanding the science of neurodevelopmental disorders.
Reigle signed Keri up to participate in research conducted at the lab and together they traveled from their home in San Antonio, Texas, to Sacramento, Calif., for two days of assessments.
“I decided that we weren't going to go through all that we've been through and have it not even matter. It will be a great reward to us if she can help make the lives of others easier,” she said.
In the lab, Keri participated in a series of computer games, standard paper and pencil tests, and an MRI to develop a comprehensive picture of her brain development and cognitive abilities. Reigle added that the staff made the assessment process very easy.
“Keri really loved Dr. Simon and his team. And it was encouraging for me to be around people who know the syndrome so deeply,” she said.
For more information
|Children with and without neurodevelopmental disorders participate in research studies involving MRIs and other assessments leading to better characterizations of brain development.|
Simon's lab assesses all children aged 7 to 14 with chromosome 22q11.2 deletion and other neurodevelopmental disorders for a variety of research studies. Children without neurodevelopmental disorders also participate in research, as their results provide important bases for comparison. For an example of the assessments and information about current studies, visit
Simon published a paper that provides the first integrated look at current research on chromosome 22q11.2 deletion, an overview of impairments common to the syndrome and sample images showing distinctions in the brains of children with the syndrome. “A Multilevel Analysis of Cognitive Dysfunction and Psychopathology Associated with Chromosome 22q11.2 Deletion Syndrome in Children” appears in the journal Development and Psychopathology and can be downloaded at http://journals.cambridge.org/action/displayIssue?jid=DPP&volumeId=17&issueId=03#.