Arianna K. Stefanatos, PhD
Areas of expertise: Metabolic disease, Mitochondrial disease, Lysosomal Storage Disorders, Congenital disorders of glycosylation, Williams syndrome, Noonan syndrome, Leukodystrophy
Locations: Buerger Center for Advanced Pediatric Care
About Arianna K. Stefanatos, PhD
Titles
Licensed Psychologist, Pediatric Neuropsychologist
Awards and Honors
2019-2020, Travel Award, Urea Cycle Disorders Consortium
2012-2014, Professional Development Award, The University of Texas
2009, David Wechsler Regents Chair in Psychology Fellowship, The University of Texas
2008, Graduated with Distinction, University of Toronto
2006, St. George’s Society Award, University of Toronto
Leadership and Memberships
Memberships in Professional Organizations
2016-present, International Neuropsychological Society
Research Interests
Examining predictors of neurocognitive, socio-emotional and behavioral functioning within children with genetic, metabolic, and mitochondrial diseases over time
Education & training
Graduate Degree
PhD in Clinical Psychology - The University of Texas, Austin, TX
MA in Clinical Psychology - The University of Texas, Austin, TX
Internship
Predoctoral Internship in Pediatric Neuropsychology - Children’s Hospital of Philadelphia, Philadelphia, PA
Residency
Postdoctoral Residency in Pediatric Neuropsychology, APPCN Accredited - Boston Children's Hospital/Harvard Medical School, Boston, MA
Fellowship
Leadership Education in Neurodevelopmental Disabilities (LEND) Fellowship - Children's Hospital of Philadelphia, Phildelphia, PA
Postdoctoral Fellowship in Pediatric Neuropsychology - Boston Children’s Hospital, Boston, MA and Harvard Medical School, Boston, MA
Publications
Publications
2026
Stefanatos, A.K., Tormey, C., Demczko, M., & Goldstein, A. (2026). Mitochondrial disease and the
brain: Beyond the typical neurological manifestations. In A. J. Hauptman & J. A. Salpekar
(Eds.), Pediatric Neuropsychiatry: A Case-Based Approach (pp. 293–307). Springer Nature Publishers.
2025
Rippert, A.L., Reef, R., Mani, A., Stefanatos, A.K., & Ahrens-Nicklas, R.C. (2025). Longitudinal
outcomes in Noonan syndrome. Genetics in Medicine, 27(4), 101355.
2024
Waisbren, S.E., Christ, S.E., Bilder, D.A., Bjoraker, K.J., Bolton, S., Chamberlin, S., Grant, M.L.,
Janzen, D.M., Katz, R., Lubliner, E., Martin, A., McQueen, K., Moshkovich, O., Nguyen-Driver, M.,
Shim, S., Stefanatos, A.K., Wilkening, G., & Harding, C. (2024). Neurocognitive assessment platform
for clinical trials in PKU: White paper developed by the NPKUA neurocognitive workgroup. Molecular Genetics and Metabolism, 143(1-2), 108555.
Gold J.I., Stefanatos, A.K., Vanderver, A., & Cuddapah, S. (2024). Enasidenib-induced hepatitis in an
individual with Type II D2-hydroxyglutaric aciduria. Journal of Inherited Metabolic Disease (JIMD)
Reports, 65(3), 156–162.
2023
Staklinski, S.J., Chang, M., Ahrens-Nicklas, R.C., Kaur, S., Stefanatos, A.K., Dudenhausen, E.,
Merritt, M.E., & Kilberg, M.S. (2023). Characterizing asparagine synthetase deficiency variants in
lymphoblastoid cell lines. Journal of Inherited Metabolic Disease (JIMD) Reports, 64 (2), 167–179.