In a first-of-its-kind study of a pediatric population, CHOC soon will begin enrolling 50 patients with Down syndrome to determine if biochemical markers in their blood show a likelihood of them developing Alzheimer’s disease in adulthood.
Adults with Down syndrome develop Alzheimer’s disease, a brain disorder that slowly destroys memory and thinking skills and, eventually, the ability to carry out even the simplest tasks, much earlier when compared to the general population.
Autopsies of children as young as 8 who had Down syndrome have shown plaques on their brains indicating a likelihood of developing Alzheimer’s, says Dr. Minodora Totoiu, a pediatric neurologist at CHOC.
But until now, no such study of biochemical markers has been done on children with Down syndrome, says Dr. Totoiu, who has been involved for more than 10 years in studying how adults with Down Syndrome transition to Alzheimer’s disease.
Her work includes studying biochemical markers in adults with Down syndrome at UC Irvine as part of a multicenter grant funded by the National Institutes of Health.
Dr. Totoiu, who has been at CHOC since 2010, serves as an associate clinical professor in the Department of Pediatrics at UCI.
She recently was awarded a new grant for the pediatric study, which is expected to get underway in March 2022.
Study participants will come primarily from the more than 650 children with Down syndrome who are currently receiving care by CHOC doctors, including pediatricians, neurologists, cardiologists, and endocrinology specialists.
The benefit of being able to identify biochemical markers for Alzheimer’s disease will be early intervention, says Dr. Totoiu.
Down syndrome is a genetic disorder associated with physical growth delays, characteristic facial features, and mild, moderate, or severe developmental and intellectual disability. Its prevalence in the U.S. is about 1 in every 700-800 newborns.
A longtime partnership
CHOC has long been involved in caring for this unique population of patients, with a clinic in the neurology department specifically devoted to these children. CHOC’s Down Syndrome Program is an Alliance with the Down Syndrome Association of Orange County.
Dr. Totoiu’s new study team includes Virginia Allhusen, PhD, CHOC neuroscience research administrator; Christy Hom, PhD, pediatric neuropsychologist at UCI; Elizabeth Head, PhD, Professor of Pathology at UCI; Mark Mapstone, PhD, Professor of Neuropsychology at UCI; Ira Lott, MD, Professor Emeritus at UCI and Linda Do, CHOC Clinical Research Coordinator.
Participants in the study will be children ages 6 to 17, inclusive, and they will receive monetary compensation for their participation.
Dr. Totoiu and her team will collect their medical history, demographics, conduct physical and neurological examinations and perform a neuropsychological evaluation.
They will collect blood samples from each participant in the hopes of coming up with a biomarker profile that could indicate their likelihood of developing Alzheimer’s disease in adulthood.
Parents who are interested in enrolling their children in Dr. Totoiu’s study should contact Linda Do at 714-509-8945 or via email at Linh.Do@choc.org.