Scholars@Duke

• Background
• 

  Education, Training, & Certifications

  • Ph.D., University of Kansas 1988
• 

  Previous Appointments & Affiliations

  • Associate Professor in Pediatrics, Pediatrics, Clinical Science Departments 2020 - 2022
  • Associate Professor in Psychiatry and Behavioral Sciences, Psychiatry, Child & Family Mental Health & Community Psychiatry, Psychiatry & Behavioral Sciences 2021 - 2022
  • Associate Professor in Psychiatry and Behavioral Sciences, Psychiatry, Child & Family Mental Health & Community Psychiatry, Psychiatry & Behavioral Sciences 2013 - 2020
  • Associate Professor in Pediatrics, Pediatrics, Clinical Science Departments 2012 - 2020
  • Associate Professor in Psychiatry and Behavioral Sciences, Psychiatry & Behavioral Sciences, Clinical Science Departments 2012 - 2013
  • Assistant Professor in Pediatrics, Pediatrics, Clinical Science Departments 2006 - 2012
  • Assistant Professor in Psychiatry and Behavioral Sciences, Psychiatry & Behavioral Sciences, Clinical Science Departments 2006 - 2012
  • Assistant Clinical Professor in Pediatrics, Pediatrics, Clinical Science Departments 1994 - 2006
  • Assistant Clinical Professor in Psychiatry and Behavioral Sciences, Psychiatry & Behavioral Sciences, Clinical Science Departments 1994 - 2006
• Research
• 

  Selected Grants

  • Understanding cognitive and neurological pathologies in infantile Pompe disease CNS awarded by Genzyme Corporation 2022 - 2024
  • Understanding cognitive and neurological pathologies in infantile Pompe disease CNS awarded by Genzyme Corporation 2019 - 2021
  • Understanding cognitive and neurological pathologies in infantile Pompe disease awarded by Genzyme Corporation 2016 - 2018
  • What about adolescence? Living with genetic risk awarded by National Institutes of Health 2004 - 2007
• 

  External Relationships

  • LuMind IDSC Foundation
• Publications & Artistic Works
• 

  Selected Publications

  • Academic Articles

    • Korlimarla, Aditi, Gail A. Spiridigliozzi, Mihaela Stefanescu, Stephanie L. Austin, and Priya S. Kishnani. “Behavioral, social and school functioning in children with Pompe disease.” Mol Genet Metab Rep 25 (December 2020): 100635. https://doi.org/10.1016/j.ymgmr.2020.100635.
       Full Text  Open Access Copy  Link to Item
    • Farmer, Cristan A., Aaron J. Kaat, Audrey Thurm, Irina Anselm, Natacha Akshoomoff, Amanda Bennett, Leandra Berry, et al. “Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.” Am J Intellect Dev Disabil 125, no. 6 (November 1, 2020): 475–80. https://doi.org/10.1352/1944-7558-125.6.475.
       Full Text  Link to Item
    • Korlimarla, Aditi, Gail A. Spiridigliozzi, Kelly Crisp, Mrudu Herbert, Steven Chen, Michael Malinzak, Mihaela Stefanescu, et al. “Novel approaches to quantify CNS involvement in children with Pompe disease.” Neurology 95, no. 6 (August 11, 2020): e718–32. https://doi.org/10.1212/WNL.0000000000009979.
       Full Text  Open Access Copy  Link to Item
    • Spiridigliozzi, Gail A., Celia Goeldner, Jamie Edgin, Sarah J. Hart, Jana Noeldeke, Lisa Squassante, Jeannie Visootsak, et al. “Adaptive behavior in adolescents and adults with Down syndrome: Results from a 6-month longitudinal study.” Am J Med Genet A 179, no. 1 (January 2019): 85–93. https://doi.org/10.1002/ajmg.a.60685.
       Full Text  Link to Item
    • Marcogliese, Paul C., Vandana Shashi, Rebecca C. Spillmann, Nicholas Stong, Jill A. Rosenfeld, Mary Kay Koenig, Julián A. Martínez-Agosto, et al. “IRF2BPL Is Associated with Neurological Phenotypes.” Am J Hum Genet 103, no. 3 (September 6, 2018): 456. https://doi.org/10.1016/j.ajhg.2018.08.010.
       Full Text  Link to Item
    • Marcogliese, Paul C., Vandana Shashi, Rebecca C. Spillmann, Nicholas Stong, Jill A. Rosenfeld, Mary Kay Koenig, Julián A. Martínez-Agosto, et al. “IRF2BPL Is Associated with Neurological Phenotypes.” Am J Hum Genet 103, no. 2 (August 2, 2018): 245–60. https://doi.org/10.1016/j.ajhg.2018.07.006.
       Full Text  Link to Item
    • Hart, Sarah J., Jeannie Visootsak, Paul Tamburri, Patrick Phuong, Nicole Baumer, Maria-Clemencia Hernandez, Brian G. Skotko, et al. “Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date.” Am J Med Genet A 173, no. 11 (November 2017): 3029–41. https://doi.org/10.1002/ajmg.a.38465.
       Full Text  Link to Item
    • Keeling, Lori A., Gail A. Spiridigliozzi, Sarah J. Hart, Jane A. Baker, Harrison N. Jones, and Priya S. Kishnani. “Challenges in measuring the effects of pharmacological interventions on cognitive and adaptive functioning in individuals with Down syndrome: A systematic review.” Am J Med Genet A 173, no. 11 (November 2017): 3058–66. https://doi.org/10.1002/ajmg.a.38416.
       Full Text  Open Access Copy  Link to Item
    • Spiridigliozzi, Gail A., Lori A. Keeling, Mihaela Stefanescu, Cindy Li, Stephanie Austin, and Priya S. Kishnani. “Cognitive and academic outcomes in long-term survivors of infantile-onset Pompe disease: A longitudinal follow-up.” Mol Genet Metab 121, no. 2 (June 2017): 127–37. https://doi.org/10.1016/j.ymgme.2017.04.014.
       Full Text  Link to Item
    • Spiridigliozzi, Gail A., Sarah J. Hart, James H. Heller, Heather E. Schneider, Jane Ann Baker, Cathleen Weadon, George T. Capone, and Priya S. Kishnani. “Safety and efficacy of rivastigmine in children with Down syndrome: A double blind placebo controlled trial.” Am J Med Genet A 170, no. 6 (June 2016): 1545–55. https://doi.org/10.1002/ajmg.a.37650.
       Full Text  Link to Item
    • Liogier d’Ardhuy, Xavier, Jamie O. Edgin, Charles Bouis, Susana de Sola, Celia Goeldner, Priya Kishnani, Jana Nöldeke, et al. “Assessment of Cognitive Scales to Examine Memory, Executive Function and Language in Individuals with Down Syndrome: Implications of a 6-month Observational Study.” Front Behav Neurosci 9 (2015): 300. https://doi.org/10.3389/fnbeh.2015.00300.
       Full Text  Link to Item
    • Spiridigliozzi, Gail A., James H. Heller, Priya S. Kishnani, Ans T. Van der Ploeg, B. J. Ebbink, F. K. Aarsen, C. M. van Gelder, and J. M. P. Van den Hout. “Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy.” Neurology 80, no. 12 (March 19, 2013): 1173. https://doi.org/10.1212/WNL.0b013e31828b8af0.
       Full Text  Link to Item
    • Spiridigliozzi, Gail A., James H. Heller, Laura E. Case, Harrison N. Jones, and Priya S. Kishnani. “Early cognitive development in children with infantile Pompe disease.” Mol Genet Metab 105, no. 3 (March 2012): 428–32. https://doi.org/10.1016/j.ymgme.2011.10.012.
       Full Text  Open Access Copy  Link to Item
    • Spiridigliozzi, Gail A., James H. Heller, and Priya S. Kishnani. “Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: long-term follow-up.” Am J Med Genet C Semin Med Genet 160C, no. 1 (February 15, 2012): 22–29. https://doi.org/10.1002/ajmg.c.31323.
       Full Text  Link to Item
    • Spiridigliozzi, Gail A., James H. Heller, and Priya S. Kishnani. “Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: Long-term follow-up.” American Journal of Medical Genetics Part C Seminars in Medical Genetics 160C, no. 1 (February 15, 2012): 22–29. https://doi.org/10.1002/ajmc.31323.
       Full Text  Link to Item
    • McConkie-Rosell, Allyn, Elizabeth Melvin Heise, and Gail A. Spiridigliozzi. “Influence of genetic risk information on parental role identity in adolescent girls and young women from families with fragile X syndrome.” J Genet Couns 21, no. 1 (February 2012): 59–71. https://doi.org/10.1007/s10897-011-9391-8.
       Full Text  Link to Item
    • Heller, James H., Gail A. Spiridigliozzi, Blythe G. Crissman, Jane Anne McKillop, Haru Yamamoto, and Priya S. Kishnani. “Safety and efficacy of rivastigmine in adolescents with Down syndrome: long-term follow-up.” J Child Adolesc Psychopharmacol 20, no. 6 (December 2010): 517–20. https://doi.org/10.1089/cap.2009.0099.
       Full Text  Open Access Copy  Link to Item
    • Kishnani, Priya S., James H. Heller, Gail A. Spiridigliozzi, Ira Lott, Luis Escobar, Sharon Richardson, Richard Zhang, and Thomas McRae. “Donepezil for treatment of cognitive dysfunction in children with Down syndrome aged 10-17.” Am J Med Genet A 152A, no. 12 (December 2010): 3028–35. https://doi.org/10.1002/ajmg.a.33730.
       Full Text  Link to Item
    • Lachiewicz, Ave, D. Dawson, G. Spiridigliozzi, M. Cuccaro, M. Lachiewicz, and A. McConkie-Rosell. “Indicators of anxiety and depression in women with the fragile X premutation: assessment of a clinical sample.” J Intellect Disabil Res 54, no. 7 (July 2010): 597–610. https://doi.org/10.1111/j.1365-2788.2010.01290.x.
       Full Text  Link to Item
    • Kishnani, Priya S., Barbara R. Sommer, Benjamin L. Handen, Benjamin Seltzer, George T. Capone, Gail A. Spiridigliozzi, James H. Heller, Sharon Richardson, and Thomas McRae. “The efficacy, safety, and tolerability of donepezil for the treatment of young adults with Down syndrome.” Am J Med Genet A 149A, no. 8 (August 2009): 1641–54. https://doi.org/10.1002/ajmg.a.32953.
       Full Text  Link to Item
    • McConkie-Rosell, Allyn, Elizabeth Melvin Heise, and Gail A. Spiridigliozzi. “Genetic risk communication: experiences of adolescent girls and young women from families with fragile X syndrome.” J Genet Couns 18, no. 4 (August 2009): 313–25. https://doi.org/10.1007/s10897-009-9215-2.
       Full Text  Link to Item
    • Wehbe, Ramsey M., Gail A. Spiridigliozzi, Elizabeth M. Heise, Deborah V. Dawson, and Allyn McConkie-Rosell. “When to tell and test for genetic carrier status: perspectives of adolescents and young adults from fragile X families.” Am J Med Genet A 149A, no. 6 (June 2009): 1190–99. https://doi.org/10.1002/ajmg.a.32840.
       Full Text  Link to Item
    • McConkie-Rosell, Allyn, Gail A. Spiridigliozzi, Elizabeth Melvin, Deborah V. Dawson, and Ave M. Lachiewicz. “Living with genetic risk: effect on adolescent self-concept.” Am J Med Genet C Semin Med Genet 148C, no. 1 (February 15, 2008): 56–69. https://doi.org/10.1002/ajmg.c.30161.
       Full Text  Link to Item
    • Spiridigliozzi, Gail A., James H. Heller, Blythe G. Crissman, Jennifer A. Sullivan-Saarela, Rebecca Eells, Deborah Dawson, Jennifer Li, and Priya S. Kishnani. “Preliminary study of the safety and efficacy of donepezil hydrochloride in children with Down syndrome: a clinical report series.” Am J Med Genet A 143A, no. 13 (July 1, 2007): 1408–13. https://doi.org/10.1002/ajmg.a.31790.
       Full Text  Link to Item
    • Heller, James H., Gail A. Spiridigliozzi, Blythe G. Crissman, Jennifer A. Sullivan, Rebecca L. Eells, Jennifer S. Li, P Murali Doraiswamy, K Ranga Krishnan, and Priya S. Kishnani. “Safety and efficacy of rivastigmine in adolescents with Down syndrome: a preliminary 20-week, open-label study.” J Child Adolesc Psychopharmacol 16, no. 6 (December 2006): 755–65. https://doi.org/10.1089/cap.2006.16.755.
       Full Text  Link to Item
    • Heller, James H., Gail A. Spiridigliozzi, Blythe G. Crissman, Jennifer A. Sullivan-Saarela, Jennifer S. Li, and Priya S. Kishnani. “Clinical trials in children with Down syndrome: issues from a cognitive research perspective.” Am J Med Genet C Semin Med Genet 142C, no. 3 (August 15, 2006): 187–95. https://doi.org/10.1002/ajmg.c.30103.
       Full Text  Link to Item
    • Lachiewicz, Ave M., Deborah V. Dawson, Gail A. Spiridigliozzi, and Allyn McConkie-Rosell. “Arithmetic difficulties in females with the fragile X premutation.” Am J Med Genet A 140, no. 7 (April 1, 2006): 665–72. https://doi.org/10.1002/ajmg.a.31082.
       Full Text  Link to Item
    • Heller, James H., Gail A. Spiridigliozzi, P Murali Doraiswamy, Jennifer A. Sullivan, Bythe G. Crissman, and Priya S. Kishnani. “Donepezil effects on language in children with Down syndrome: results of the first 22-week pilot clinical trial.” Am J Med Genet A 130A, no. 3 (October 15, 2004): 325–26. https://doi.org/10.1002/ajmg.a.30184.
       Full Text  Link to Item
    • Heller, J. H., G. A. Spiridigliozzi, P. M. Doraiswamy, J. A. Sullivan, B. G. Crissman, and P. S. Kishnani. “Donepezil effects on language in children with Down syndrome: results of the first 22-week pilot clinical trial.” American Journal of Medical Genetics. Part A 130, no. 3 (October 2004): 325–26.
    • Kishnani, Priya S., Jennifer A. Sullivan, Gail A. Spiridigliozzi, James H. Heller, and Blythe G. Crissman. “Donepezil use in Down syndrome.” Arch Neurol 61, no. 4 (April 2004): 605–6. https://doi.org/10.1001/archneur.61.4.605-b.
       Full Text  Link to Item
    • McConkie-Rosell, Allyn, and Gail A. Spiridigliozzi. “"Family matters": a conceptual framework for genetic testing in children.” J Genet Couns 13, no. 1 (February 2004): 9–29. https://doi.org/10.1023/b:jogc.0000013379.90587.ef.
       Full Text  Link to Item
    • Heller, James H., Gail A. Spiridigliozzi, Jennifer A. Sullivan, P Murali Doraiswamy, Ranga R. Krishnan, and Priya S. Kishnani. “Donepezil for the treatment of language deficits in adults with Down syndrome: a preliminary 24-week open trial.” Am J Med Genet A 116A, no. 2 (January 15, 2003): 111–16. https://doi.org/10.1002/ajmg.a.10074.
       Full Text  Link to Item
    • McConkie-Rosell, Allyn, Gail A. Spiridigliozzi, Jennifer A. Sullivan, Deborah V. Dawson, and Ave M. Lachiewicz. “Carrier testing in fragile X syndrome: when to tell and test.” Am J Med Genet 110, no. 1 (June 1, 2002): 36–44. https://doi.org/10.1002/ajmg.10396.
       Full Text  Link to Item
    • Kishnani, P. S., G. A. Spiridigliozzi, J. H. Heller, J. A. Sullivan, P. M. Doraiswamy, and K. R. Krishnan. “Donepezil for Down's syndrome.” Am J Psychiatry 158, no. 1 (January 2001): 143. https://doi.org/10.1176/appi.ajp.158.1.143.
       Full Text  Link to Item
    • McConkie-Rosell, A., G. A. Spiridigliozzi, J. A. Sullivan, D. V. Dawson, and A. M. Lachiewicz. “Longitudinal study of the carrier testing process for fragile X syndrome: perceptions and coping.” Am J Med Genet 98, no. 1 (January 1, 2001): 37–45.
       Link to Item
    • McConkie-Rosell, A., G. A. Spiridigliozzi, J. A. Sullivan, D. V. Dawson, and A. M. Lachiewicz. “Carrier testing in fragile X syndrome: effect on self-concept.” Am J Med Genet 92, no. 5 (June 19, 2000): 336–42. https://doi.org/10.1002/1096-8628(20000619)92:5<336::aid-ajmg8>3.0.co;2-l.
       Full Text  Link to Item
    • Lachiewicz, A. M., D. V. Dawson, and G. A. Spiridigliozzi. “Physical characteristics of young boys with fragile X syndrome: reasons for difficulties in making a diagnosis in young males.” Am J Med Genet 92, no. 4 (June 5, 2000): 229–36. https://doi.org/10.1002/(sici)1096-8628(20000605)92:4<229::aid-ajmg1>3.0.co;2-k.
       Full Text  Link to Item
    • Kishnani, P. S., J. A. Sullivan, B. K. Walter, G. A. Spiridigliozzi, P. M. Doraiswamy, and K. R. Krishnan. “Cholinergic therapy for Down's syndrome.” Lancet 353, no. 9158 (March 27, 1999): 1064–65. https://doi.org/10.1016/S0140-6736(98)05285-4.
       Full Text  Link to Item
    • McConkie-Rosell, A., G. A. Spiridigliozzi, K. Rounds, D. V. Dawson, J. A. Sullivan, D. Burgess, and A. M. Lachiewicz. “Parental attitudes regarding carrier testing in children at risk for fragile X syndrome.” Am J Med Genet 82, no. 3 (January 29, 1999): 206–11.
       Link to Item
    • McConkie-Rosell, A., G. A. Spiridigliozzi, T. Iafolla, J. Tarleton, and A. M. Lachiewicz. “Carrier testing in the fragile X syndrome: attitudes and opinions of obligate carriers.” Am J Med Genet 68, no. 1 (January 10, 1997): 62–69. https://doi.org/10.1002/(sici)1096-8628(19970110)68:1<62::aid-ajmg12>3.0.co;2-m.
       Full Text  Link to Item
    • Lachiewicz, A. M., G. A. Spiridigliozzi, A. McConkie-Rosell, D. Burgess, Y. Feng, S. T. Warren, and J. Tarleton. “A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene.” Am J Med Genet 64, no. 2 (August 9, 1996): 278–82. https://doi.org/10.1002/(SICI)1096-8628(19960809)64:2<278::AID-AJMG9>3.0.CO;2-Q.
       Full Text  Link to Item
    • Dykens, E., S. Ort, I. Cohen, B. Finucane, G. Spiridigliozzi, A. Lachiewicz, A. Reiss, L. Freund, R. Hagerman, and R. O’Connor. “Trajectories and profiles of adaptive behavior in males with fragile X syndrome: multicenter studies.” J Autism Dev Disord 26, no. 3 (June 1996): 287–301. https://doi.org/10.1007/BF02172475.
       Full Text  Link to Item
    • Van Hove, J. L., G. A. Spiridigliozzi, R. Heinz, A. McConkie-Rosell, A. K. Iafolla, and S. G. Kahler. “Fryns syndrome survivors and neurologic outcome.” Am J Med Genet 59, no. 3 (November 20, 1995): 334–40. https://doi.org/10.1002/ajmg.1320590311.
       Full Text  Link to Item
    • Lachiewicz, A. M., G. A. Spiridigliozzi, C. M. Gullion, S. N. Ransford, and K. Rao. “Aberrant behaviors of young boys with fragile X syndrome.” Am J Ment Retard 98, no. 5 (March 1994): 567–79.
       Link to Item
    • McConkie-Rosell, A., A. M. Lachiewicz, G. A. Spiridigliozzi, J. Tarleton, S. Schoenwald, M. C. Phelan, P. Goonewardena, X. Ding, and W. T. Brown. “Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.” Am J Hum Genet 53, no. 4 (October 1993): 800–809.
       Link to Item
    • Lachiewicz, A., C. Harrison, G. A. Spiridigliozzi, N. P. Callanan, and J. Livermore. “What is the fragile X syndrome?” N C Med J 49, no. 4 (April 1988): 203–8.
       Link to Item
    • Lachiewicz, A. M., C. M. Gullion, G. A. Spiridigliozzi, and A. S. Aylsworth. “Declining IQs of young males with the fragile X syndrome.” Am J Ment Retard 92, no. 3 (November 1987): 272–78.
       Link to Item
    • Pittner, M. S., B. K. Houston, and G. Spiridigliozzi. “Control over stress, type A behavior pattern, and response to stress.” J Pers Soc Psychol 44, no. 3 (March 1983): 627–37. https://doi.org/10.1037//0022-3514.44.3.627.
       Full Text  Link to Item
    • Kremer, J. F., and G. A. Spiridigliozzi. “Affective isolation as a coping strategy for persons with low and high amounts of life stress.” Journal of Research in Personality 16, no. 4 (January 1, 1982): 470–84. https://doi.org/10.1016/0092-6566(82)90006-X.
       Full Text
    • Miller, D. J., G. Spiridigliozzi, E. B. Ryan, M. P. Callan, and J. E. Mclaughlin. “Habituation and cognitive performance: Relationships between measures at four years of age and earlier assessments.” International Journal of Behavioral Development 3, no. 2 (January 1, 1980): 131–46. https://doi.org/10.1177/016502548000300201.
       Full Text

  • Book Sections

    • Korlimarla, Aditi, Sarah Hart, Gail Spiridigliozzi, and Priya Kishnani. “Down syndrome.” In Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition, edited by Priya John C. Carey  Agatino Battaglia  David Viskochil  Suzanne B. Cassidy, 355–87. © 2021 John Wiley & Sons, Inc., 2021. https://doi.org/10.1002/9781119432692.ch24.
       Full Text  Open Access Copy  Link to Item

  • Conference Papers

    • Stefanescu, Mihaela C., Gail A. Spiridigliozzi, Stephanie L. Austin, and Priya S. Kishnani. “Parent report of school functioning and behavior in children with Pompe disease.” In Molecular Genetics and Metabolism, 126:S138–S138. Elsevier BV, 2019. https://doi.org/10.1016/j.ymgme.2018.12.355.
       Full Text
    • Herbert, Mrudu, Gail A. Spiridigliozzi, Steven Chen, Mihaela Stefanescu, Stephanie L. Austin, James M. Provenzale, and Priya S. Kishnani. “Cognition and brain involvement in infantile Pompe disease.” In Molecular Genetics and Metabolism, 123:S62–S62. Elsevier BV, 2018. https://doi.org/10.1016/j.ymgme.2017.12.151.
       Full Text

Some information on this profile has been compiled automatically from Duke databases and external sources. (Our About page explains how this works.) If you see a problem with the information, please write to Scholars@Duke and let us know. We will reply promptly.