Susan Howell, MBA, MS, CGC
Assistant Professor, Pediatrics-Developmental Pediatrics
Graduate Schools
- MS, Indiana University - Purdue University at Indianapolis (1999)
- MBA, University of Denver (2002)
Undergraduate School
- BA, University of Colorado - Boulder (CO) (1996)
Languages
EnglishDepartment
Pediatrics-Developmental PediatricsProfessional Titles
- Sr. Instructor
- Genetic Counselor
Publications
- Wigby K, D'Epagnier C, Howell S, Reicks A, Wilson R, Cordeiro L, Tartaglia N. Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis. Am J Med Genet A. 2016 Nov;170(11):2870-2881. PubMed PMID: 27644018
- Tartaglia N, Howell S, Wilson R, Janusz J, Boada R, Martin S, Frazier JB, Pfeiffer M, Regan K, McSwegin S, Zeitler P. The eXtraordinarY Kids Clinic: an interdisciplinary model of care for children and adolescents with sex chromosome aneuploidy. J Multidiscip Healthc. 2015 Jul 17;8:323-34. PubMed PMID: 26229481
- Dennis A, Howell S, Cordeiro L, Tartaglia N. "How should I tell my child?" Disclosing the diagnosis of sex chromosome aneuploidies. J Genet Couns. 2015 Feb;24(1):88-103. PubMed PMID: 25179748
- Wigby K, D'Epagnier C, Howell S, Reicks A, Wilson R, Cordeiro L, Tartaglia N. Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis. Am J Med Genet A. 2016 Nov;170(11):2870-2881. PubMed PMID: 27644018
- Davis S, Howell S, Wilson R, Tanda T, Ross J, Zeitler P, Tartaglia N. Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome. Adv Pediatr. 2016 Aug;63(1):15-46. PubMed PMID: 27426894
- Thompson T, Zieba B, Howell S, Karakash W, Davis S. A mixed methods study of physical activity and quality of life in adolescents with Turner syndrome. Am J Med Genet A. 2019 Dec 8. [Epub ahead of print] PubMed PMID: 31814298
- Hutaff-Lee C, Bennett E, Howell S, Tartaglia N. Clinical developmental, neuropsychological, and social-emotional features of Turner syndrome. Am J Med Genet C Semin Med Genet. 2019 Mar;181(1):126-134. PubMed PMID: 30767374
- Tartaglia N, Howell S, Davis S, Kowal K, Tanda T, Brown M, Boada C, Alston A, Crawford L, Thompson T, van Rijn S, Wilson R, Janusz J, Ross J. Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early risk factors and targets for intervention. Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):428-443. PubMed PMID: 32506668
- Thompson T, Howell S, Davis S, Wilson R, Janusz J, Boada R, Pyle L, Tartaglia N. Current survey of early childhood intervention services in infants and young children with sex chromosome aneuploidies. Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):414-427. PubMed PMID: 32449585
- Janusz J, Harrison C, Boada C, Cordeiro L, Howell S, Tartaglia N, Boada R. Executive function in XXY: Comparison of performance-based measures and rating scales. Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):469-481. PubMed PMID: 32519473
- Davis SM, Soares K, Howell S, Cree-Green M, Buyers E, Johnson J, Tartaglia NR. Diminished Ovarian Reserve in Girls and Adolescents with Trisomy X Syndrome. Reprod Sci. 2020 Nov;27(11):1985-1991. PubMed PMID: 32578162
- Thompson T, Zieba B, Howell S, Karakash W, Davis S. A mixed methods study of physical activity and quality of life in adolescents with Turner syndrome. Am J Med Genet A. 2020 Feb;182(2):386-396. PubMed PMID: 31814298
- Howell S, Buchanan C, Davis SM, Miyazawa H, Furuta GT, Tartaglia NR, Nguyen N. Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications. Mol Genet Genomic Med. 2021 Dec;9(12):e1833. PubMed PMID: 34738344
- Thompson, T., Davis, S., Takamatsu, S., Howell, S., & Tartaglia, N. (2021). Exploring academic and character strengths in students with sex chromosome aneuploidies. Journal of Positive School Psychology , (FirstView articles), 1-13
- Guzewicz L, Howell S, Crerand CE, Umbaugh H, Nokoff NJ, Barker J, Davis SM. Clinical phenotype and management of individuals with mosaic monosomy X with Y chromosome material stratified by genital phenotype. Am J Med Genet A. 2021 May;185(5):1437-1447. PubMed PMID: 33616298
- Howell S, Davis SM, Thompson T, Brown M, Tanda T, Kowal K, Alston A, Ross J, Tartaglia NR. Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study: Screening, counseling, diagnosis, and discordance. J Genet Couns. 2022 Oct 6. [Epub ahead of print] PubMed PMID: 36204975
- Dowlut-McElroy T, Davis S, Howell S, Gutmark-Little I, Bamba V, Prakash S, Patel S, Fadoju D, Vijayakanthi N, Haag M, Hennerich D, Dugoff L, Shankar RK. Cell-free DNA screening positive for monosomy X: clinical evaluation and management of suspected maternal or fetal Turner syndrome. Am J Obstet Gynecol. 2022 Dec;227(6):862-870. PubMed PMID: 35841934
- Thompson T, Davis S, Janusz J, Frith E, Pyle L, Howell S, Boada R, Wilson R, Tartaglia N. Supporting students with sex chromosome aneuploidies in educational settings: Results of a nationwide survey. J Sch Psychol. 2022 Aug;93:28-40. PubMed PMID: 35934449
- Thompson T, Tisher J, Davis S, Miller C, Kirk J, Tartaglia N, Howell S. The emotional journey of adapting to prenatally identified trisomy X. J Genet Couns. 2023 Sep 10. [Epub ahead of print] PubMed PMID: 37691399
- Kanakatti Shankar R, Carl A, Law JR, Bamba V, Brickman WJ, Prakash SK, Dowlut McElroy T, Howell S, Gutmark Little I, Klein KO, Pinnaro CT, Ranallo K, Good M, Davis SM. Inspiring New Science to Guide Healthcare in Turner Syndrome: Rationale, design, and methods for the InsighTS Registry. Am J Med Genet A. 2023 Oct 12. [Epub ahead of print] PubMed PMID: 37827984
- Davis SM, Urban R, D'Alessandro A, Reisz JA, Chan CL, Kelsey M, Howell S, Tartaglia N, Zeitler P, Baker Ii P. Unique plasma metabolite signature for adolescents with Klinefelter syndrome reveals altered fatty acid metabolism. Endocr Connect. 2023 May 1;12(5). PubMed PMID: 36884262
- Howell S, Davis SM, Thompson T, Brown M, Tanda T, Kowal K, Alston A, Ross J, Tartaglia NR. Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study: Screening, counseling, diagnosis, and discordance. J Genet Couns. 2023 Feb;32(1):250-259. PubMed PMID: 36204975
Practice Locations
Children's Hospital Colorado Anschutz Medical Campus13123 East 16th Ave
Aurora, CO 80045
720-777-1234
Hospital Affiliation
- Children's Hospital Colorado
Specialty Information
Specialties- Clinical Genetics and Genomics (MD), Board Certification
- ABGC Board Certified Genetic Counselor, Board Certification (2007)
- Genetic Conditions and Testing
Care Philosophy
I am a board-certified Genetic Counselor committed to supporting research to advance the understanding and treatment of neurogenetic disorders, with my primary research interests in Fragile X Syndrome and sex chromosome aneuploidy (SCA) conditions. Since 2008, I have served as the Genetic Counselor and Clinic and Research Coordinator for the Denver Fragile X Clinic and the eXtraordinarY Kids Clinic, both interdisciplinary clinics dedicated to advancing the standards of care through clinical trials and translational advancements. During my tenure, I have gained broad experience in medical research in developmental disabilities, successfully recruited and retained participants for more than a dozen clinical research studies, and facilitated dissemination of research results through collaborations with national advocacy groups, including the National Fragile X Foundation (NFXF), the Association of X&Y Variations (AXYS) and the Turner Syndrome Global Alliance, as well as professional organizations, including the National Society for Genetic Counselors (NSGC). My lifetime professional goals aim to improve the quality of life for individuals with neurogenetic disorders, including Fragile X Syndrome and SCAs. I am committed to patients, families, and professionals by providing translation of research findings in the field while supporting ongoing education and advocacy that promotes effective interventions and a better quality of life for these eXtraordinarY children.
I am a board-certified Genetic Counselor committed to supporting research to advance the understanding and treatment of neurogenetic disorders, with my primary research interests in Fragile X Syndrome and sex chromosome aneuploidy (SCA) conditions. Since 2008, I have served as the Genetic Counselor and Clinic and Research Coordinator for the Denver Fragile X Clinic and the eXtraordinarY Kids Clinic, both interdisciplinary clinics dedicated to advancing the standards of care through clinical trials and translational advancements. During my tenure, I have gained broad experience in medical research in developmental disabilities, successfully recruited and retained participants for more than a dozen clinical research studies, and facilitated dissemination of research results through collaborations with national advocacy groups, including the National Fragile X Foundation (NFXF), the Association of X&Y Variations (AXYS) and the Turner Syndrome Global Alliance, as well as professional organizations, including the National Society for Genetic Counselors (NSGC). My lifetime professional goals aim to improve the quality of life for individuals with neurogenetic disorders, including Fragile X Syndrome and SCAs. I am committed to patients, families, and professionals by providing translation of research findings in the field while supporting ongoing education and advocacy that promotes effective interventions and a better quality of life for these eXtraordinarY children.
Personal Interests
In my spare time, I enjoy snowboarding, gardening, and being with my family.
Volunteer Activities
Since 2013, I have volunteered as a Co-Chair for the Colorado Genetic Counselors Educational Symposium.
Public Speaking
Yes
I have provided talks on the genetics, development, management, and research on sex chromosome aneuploidies, Fragile X syndrome and Turner syndrome.
In my spare time, I enjoy snowboarding, gardening, and being with my family.
Volunteer Activities
Since 2013, I have volunteered as a Co-Chair for the Colorado Genetic Counselors Educational Symposium.
Public Speaking
Yes
I have provided talks on the genetics, development, management, and research on sex chromosome aneuploidies, Fragile X syndrome and Turner syndrome.