Longitudinal studies in MPS disorders: a multicenter study of the lysosomal disease network, longitudinal studies of brain structure and function in MPS disorders
Chester B. Whitley, PhD, MD (Department of Pediatrics)
The purpose of this study is to examine the changes in the central nervous system over time in patients with MPS I, II, IV, VI, and VII in both structure and function. We have determined that localization in the brain of abnormal cognitive and behavioral attributes varies by the type of MPS disorder. We will be examining how changes in the brain over time reflects the natural course of the disease or the effects of past or currently administered treatment such as hematopoietic cell transplant, systemic enzyme replacement or intrathecal enzyme replacement.
We hypothesize that specific and localized neuroimaging, neuropsychological and neurobehavioral findings and their relationship will be distinct for each MPS disorder. Further, without appropriate treatment, functions will decline and structure will change over time specific to each disease and stage of disease. We hypothesize that treatments such as ERT, HCT, HCT+ERT, and palliative and rehabilitation therapies, will differentially affect brain structure, functions and quality of life. Finally, we hypothesize that for each MPS type, variables such as age at first treatment, severity of disease, medical events related and unrelated to the disease, mutation, family and environmental factors, sensory abnormalities, and sociodemographic variables will influence brain functional and structural outcomes as well as quality-of-life.
Neurodevelopmental effects of fetal alcohol exposure (CIFASD)
Jeff Wozniak, Ph.D., L.P. (Department of Psychiatry)
Bryon Mueller, Ph.D. (Psychiatry), Christopher Boys, Ph.D. (Department of Pediatrics), Kelvin Lim, M.D. (Department of Psychiatry)
The long-term aims of this research are to understand the neurobiological abnormalities that underlie cognitive and behavioral deficits in children with prenatal alcohol exposure. Prior research has clearly demonstrated that children with Fetal Alcohol Syndrome (FAS) have characteristic abnormalities in both the structure and function of their brains. Individuals with FAS have lower intellectual functioning, attention deficits, problems with memory/learning, and difficulties with organization/planning. Much less is known about brain structure and function in children who have a less severe diagnosis within the category of Fetal Alcohol Spectrum Disorder (FASD). This is the diagnostic term applied to those who have been exposed to alcohol prenatally and show some cognitive deficits but do not show all of the classic physical features of FAS (such as delayed growth and unusual facial features). We will use Magnetic Resonance Imaging (MRI) and neurocognitive tests to assess brain abnormalities in children with FASD compared to control participants.