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

The 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 · March 2026 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 Cite

Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.

Journal Article Pediatr Neurol · February 2026 BACKGROUND: The purpose of the Vigilan observational study (ClinicalTrials.gov, NCT02931682) was to prospectively assess the natural history and developmental course of creatine transporter deficiency (CTD). METHODS: Males with CTD aged 6 months to 65 year ... Full text Open Access Link to item Cite

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 Cite

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Education

University of Kansas · 1988 Ph.D.

Gail A. Spiridigliozzi

Overview

Current Appointments & Affiliations

Recent Publications

The Detection of Down Syndrome Arthritis in Clinical Practice: A Multicenter, International Pilot and Feasibility Study of a Down Syndrome-Specific Musculoskeletal Screening Tool.

Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.

Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experience.

Recent Grants

Understanding cognitive and neurological pathologies in infantile Pompe disease CNS

Understanding cognitive and neurological pathologies in infantile Pompe disease

What about adolescence? Living with genetic risk

Education