Gail A. Spiridigliozzi

Cholinergic therapy in children and adolescents with Down syndrome; premutation carriers of fragile X syndrome; cognitive development of children with infantile-onset Pompe disease who are being treated with enzyme replacement therapy.

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 Cite

Severe 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 Cite

Pneumonia 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 Cite

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Education, Training & Certifications

University of Kansas · 1988 Ph.D.

Gail A. Spiridigliozzi

Overview