Overview
Current Appointments & Affiliations
Professor in Psychiatry and Behavioral Sciences
·
2022 - Present
Psychiatry, Child & Family Mental Health & Community Psychiatry,
Psychiatry & Behavioral Sciences
Professor in Pediatrics
·
2022 - Present
Pediatrics,
Clinical Science Departments
Recent Publications
Exploring the use of the National Institutes of Health Toolbox Cognition Battery with children and adolescents with Pompe disease: Preliminary findings.
Journal Article Mol Genet Metab · March 2025 BACKGROUND: Although Pompe disease (PD) was originally characterized as a metabolic myopathy, there is now emerging evidence of neurological involvement in children and adolescents with infantile-onset Pompe disease (IOPD). Therefore, assessing cognition a ... Full text Link to item CiteSevere CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease.
Journal Article Mol Genet Metab · February 2024 INTRODUCTION: The standard of care for patients with infantile-onset Pompe disease (IOPD) is enzyme replacement therapy (ERT), which does not cross the blood brain barrier. While neuromuscular manifestations of IOPD are well-described, central nervous syst ... Full text Link to item CitePneumonia vaccine response in individuals with Down syndrome at three specialty clinics.
Journal Article Am J Med Genet C Semin Med Genet · December 2023 Individuals with Down syndrome (DS) have been particularly impacted by respiratory conditions, such as pneumonia. However, the description of co-occurring recurrent infections, the response to pneumococcal immunization, and the association of these was pre ... Full text Link to item CiteRecent Grants
Understanding cognitive and neurological pathologies in infantile Pompe disease CNS
Clinical TrialInvestigator · Awarded by Genzyme Corporation · 2022 - 2030Understanding cognitive and neurological pathologies in infantile Pompe disease CNS
Clinical TrialInvestigator · Awarded by Genzyme Corporation · 2019 - 2021Understanding cognitive and neurological pathologies in infantile Pompe disease
Clinical TrialInvestigator · Awarded by Genzyme Corporation · 2016 - 2018View All Grants
Education, Training & Certifications
University of Kansas ·
1988
Ph.D.