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
Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experience.
Journal Article Genet Med · December 2025 PURPOSE: This study details the long-term clinical outcomes in adult participants with CRIM-positive infantile-onset Pompe disease treated with enzyme replacement therapy (ERT), initially reported in 2012 (n = 11). METHODS: Medical records were reviewed fo ... Full text Link to item CiteThe Detection of Down Syndrome Arthritis in Clinical Practice: A Multicenter, International Pilot and Feasibility Study of a Down Syndrome-Specific Musculoskeletal Screening Tool.
Journal Article Am J Med Genet A · November 6, 2025 Down syndrome (DS) is associated with an increased risk for an inflammatory arthritis termed Down syndrome-associated arthritis (DA). Clinical awareness of DA may prevent morbidity, but there is currently no consensus approach to screen for DA. A DS muscul ... Full text Link to item CiteNavigating the Emotional and Practical Challenges of Newborn Screening for Late-Onset Pompe Disease: Insights From Parental Perspectives.
Journal Article Pediatr Neurol · November 2025 Pompe disease (PD), an autosomal recessive lysosomal disorder, results in glycogen accumulation in muscle cells, leading to progressive muscle weakness and respiratory insufficiency. Newborn screening (NBS) has improved outcomes for infantile-onset PD by e ... 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
Clinical TrialInvestigator · Awarded by Genzyme Corporation · 2016 - 2018What about adolescence? Living with genetic risk
ResearchCo Investigator · Awarded by National Institutes of Health · 2004 - 2007View All Grants
Education, Training & Certifications
University of Kansas ·
1988
Ph.D.