Nicole Tartaglia, MD

Professional Titles

• Founder & Director, eXtraordinarY Kids Clinic
• Director, Denver Fragile X Clinic
• Developmental-Behavioral Pediatrician
• Professor of Pediatrics, University of Colorado School of Medicine

Recognitions

• Research Scholar Award, The Children's Hospital Research Institute (2009)
  
• Research Scholar Award, The Children's Hospital Research Institute (2010)
  
• Young Investigator Award, Society for Developmental Behavioral Pediatrics (2008)
  
• Junior Faculty Scholar Award, Western American Federation for Medical Research (2010)
  
• K23 Patient Oriented Research Career Development Award, NIH / NINDS (2011)
  
• National Excellence in Healthcare–5 Star Award, Children’s Hospital PRC (2013)
• National Excellence in Healthcare–5 Star Award, Children’s Hospital PRC (2015)
• Patricia S. Jacobs Lifetime Achievement Award, Klinefelter Syndrome & Associates (AXYS) (2013)
  For development of interdisciplinary eXtraOrdinary Kids Clinic and research in neurodevelopmental disorders
• National Champion of Hope Nominee – RARE Champion in Medical Care and Treatment, Global Genes Project (2015)
• J. Cole National Fragile X Clinician of the Year Award, National Fragile X Foundation (2016)
• Top Docs Award – Developmental-Behavioral Pediatrics, 5280 [The Denver Magazine] (2015)
• Top Docs Award - Developmental Behavioral Pediatrics, 5280 [The Denver Magazine] (2016)
• Patient-Family Experience Award – 5 Star Award, Children’s Hospital Colorado (2017)
• 5280 Top Docs Award - Developmental Pediatrics, 5280 Magazine (2020)
• Top 1% Patient Family Experience Award, Children's Hospital Colorado (2020)

Research Interests

Publications

• Angkustsiri K, Leckliter I, Tartaglia N, Beaton EA, Enriquez J, Simon TJ. An examination of the relationship of anxiety and intelligence to adaptive functioning in children with chromosome 22q11.2 deletion syndrome. J Dev Behav Pediatr. 2012 Nov-Dec;33(9):713-20. PubMed PMID: 23117596
• Schaaf CP, Boone PM, Sampath S, Williams C, Bader PI, Mueller JM, Shchelochkov OA, Brown CW, Crawford HP, Phalen JA, Tartaglia NR, Evans P, Campbell WM, Tsai AC, Parsley L, Grayson SW, Scheuerle A, Luzzi CD, Thomas SK, Eng PA, Kang SH, Patel A, Stankiewicz P, Cheung SW. Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. Eur J Hum Genet. 2012 Dec;20(12):1240-7. PubMed PMID: 22617343
• Hager K, Jennings K, Hosono S, Howell S, Gruen JR, Rivkees SA, Tartaglia NR, Rinder HM. Molecular diagnostic testing for Klinefelter syndrome and other male sex chromosome aneuploidies. Int J Pediatr Endocrinol. 2012 Apr 23;2012(1):8. PubMed PMID: 22524164
• Cordeiro L, Tartaglia N, Roeltgen D, Ross J. Social deficits in male children and adolescents with sex chromosome aneuploidy: a comparison of XXY, XYY, and XXYY syndromes. Res Dev Disabil. 2012 Jul-Aug;33(4):1254-63. PubMed PMID: 22502852
• Ross JL, Roeltgen DP, Kushner H, Zinn AR, Reiss A, Bardsley MZ, McCauley E, Tartaglia N. Behavioral and social phenotypes in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome. Pediatrics. 2012 Apr;129(4):769-78. PubMed PMID: 22412026
• Tartaglia NR, Ayari N, Hutaff-Lee C, Boada R. Attention-deficit hyperactivity disorder symptoms in children and adolescents with sex chromosome aneuploidy: XXY, XXX, XYY, and XXYY. J Dev Behav Pediatr. 2012 May;33(4):309-18. PubMed PMID: 22333574
• L Cordeiro, N Tartaglia, “Sex Chromosome Aneuploidy: XXYY” Chapter in Brenner’s Encyclopedia of Genetics 2nd Edition, editors Stanley Maloy and Kelly Hughes, in press
• K Messer, C D’Epagnier, S. Howell, N Tartaglia, “Sex Chromosome Aneuploidy: Trisomy X” Chapter in Brenner’s Encyclopedia of Genetics 2nd Edition, editors Stanley Maloy and Kelly Hughes, in press
• Bardsley MZ, Kowal K, Levy C, Gosek A, Ayari N, Tartaglia N, Lahlou N, Winder B, Grimes S, Ross JL. 47,XYY syndrome: clinical phenotype and timing of ascertainment. J Pediatr. 2013 Oct;163(4):1085-94. PubMed PMID: 23810129
• Hutaff-Lee C, Cordeiro L, Tartaglia N. Cognitive and medical features of chromosomal aneuploidy. Handb Clin Neurol. 2013;111:273-9. PubMed PMID: 23622175
• N Tartaglia, C D’Epagnier, R Boada, S Howell, Expanding the Phenotype of Trisomy X, Poster Presentation, 2012 Society for Developmental Behavioral Pediatrics Annual Meeting, Phoenix, Arizona, September 2012
• Visootsak J, Ayari N, Howell S, Lazarus J, Tartaglia N. Timing of diagnosis of 47,XXY and 48,XXYY: a survey of parent experiences. Am J Med Genet A. 2013 Feb;161A(2):268-72. PubMed PMID: 23322622
• Berry-Kravis E, Hessl D, Abbeduto L, Reiss AL, Beckel-Mitchener A, Urv TK, Outcome Measures Working Groups. Outcome measures for clinical trials in fragile X syndrome. J Dev Behav Pediatr. 2013 Sep;34(7):508-22. PubMed PMID: 24042082
• N Tartaglia, L Cordeiro, J Ross, A Comparison of Social Deficits in XXY, XYY, and XXYY Syndromes, Abstract Oral Presentation, Society for the Study of Behavioral Phenotypes, Leuven, Belgium, October 2012
• R Wilson, J Janusz, R Boada, S Howell, J Frazier, S Martin, N Tartaglia,Clinical Experience with the Complex Behavioral Phenotype of Sex Chromosome Aneuploidy, Poster Presentation, Society for the Study of Behavioral Phenotypes, Leuven, Belgium, October 2012
• R Boada, J Frazier, J Janusz, N Tartaglia, Predictors of Higher Level Language Skills in XXY (Klinefelter syndrome), Poster Presentation, Society for the Study of Behavioral Phenotypes, Leuven, Belgium, October 2012
• J Frazier, R Boada, J Janusz, M Pfeiffer, C Easter, N Tartaglia, Expansion of the Language Phenotype in XXY (Klinefelter syndrome), Poster Presentation, Society for the Study of Behavioral Phenotypes, Leuven, Belgium, October 2012
• L Cordeiro, T Stackhouse, J McGrew, N Tartaglia, Repeated Assessment of Neuromotor Skills: Effect on Outcome Measures and Implications for Intervention Studies, Abstract Oral Presentation, 13th International Fragile X Conference, Miami, FL, July 2012
• N Tartaglia, J Visootsak, “Sex Chromosome Aneuploidy Disorders” Chapter, Autism and Other Neurodevelopmental Disorders, American Psychiatric Publishing, Eds Sally Rogers and Robin Hansen, 2013, 195-226
• N Tartaglia, L Cordeiro, J McGrew, T Stackhouse, Neuromotor Outcome Measures For Clinical Trials in Fragile X Syndrome, Abstract Oral Presentation, 13th International Fragile X Conference, Miami, FL, July 2012
• L Cordeiro, N Tartaglia, “Sex Chromosome Aneuploidy: XXYY” Chapter in Brenner’s Encyclopedia of Genetics 2nd Edition, editors Stanley Maloy and Kelly Hughes, 2013, 369-371
• R Boada, J Janusz, R Wilson, C D’Epagnier., L Cordeiro, N Tartaglia, Different executive control processes predict adaptive sudbomains in Klinefelter syndrome, Poster presentation, American Academy of Clinical Neuropsychology Annual Conference, Seattle, WA, June 2012
• K Messer, C D’Epagnier, S. Howell, N Tartaglia, “Sex Chromosome Aneuploidy: Trisomy X” Chapter in Brenner’s Encyclopedia of Genetics 2nd Edition, editors Stanley Maloy and Kelly Hughes, 2013, 195-197
• Ross JL, Tartaglia N, Merry DE, Dalva M, Zinn AR. Behavioral Phenotypes In Males With XYY and Possible Role of Increased NLGN4Y Expression in Autism Features. Genes Brain Behav. 2015 Jan 6. [Epub ahead of print] PubMed PMID: 25558953
• M Bardsley, K Kowal, A Gosek, N Tartaglia, J Ross, Clinical Phenotype, Medical Diagnoses, and Timing of Ascertainment in 66 Males with 47,XYY, Abstract Oral Presentation, 2012 Pediatric Academic Societies Meeting, Boston, MA, May 2012
• 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
• V Patel, T Katz, F Tassone, N Tartaglia, Sleep Problems in Sex Chromosome Aneuploidy and Relationship to ASMT Expression, Abstract Oral Presentation, 2012 Western Society for Pediatric Research Annual Meeting, Carmel, CA, January 2012
• The eXtraordinarY Kids Clinic: A Model of Interdisciplinary Care for Children and Adolescents with Sex Chromosome Aneuploidy
• J Ross, D Roeltgen, N Tartaglia, B Winder-Patel, J Miller, Increased Risk of Autism Spectrum Disorders in Boys with XYY Syndrome, Poster Presentation, International Meeting for Autism Research, Atlanta, Georgia, May 2014
• E Sannar, J Janusz, T Tanda, K Angkustsiri, N Tartaglia, Psychopharmacologic Treatment of Anxiety in 22q11.2 Deletion Syndrome: A Case Series, Poster Presentation, 9th Biennial International 22q11.2DS Meeting, Mallorca, Spain, June 2014
• N Welnick, L Cordeiro, S Howell, N Tartaglia, Distress with Medical Procedures in Fragile X- Identifying the Need for Effective Supports, Poster Presentation, 14th International Fragile X Conference, Orange County, California, July 2014
• A DeSonia, J Visootsak, M Smith, D Budimirovic, N Tartaglia, N Welnick, WT Brown, G Feldman, S Hatti, L Katz, B Haas-Givier, S Damia, R Hagerman, D Hessl, M Ortigas, E Berry-Kravis, FXCRC Analysis of Arbaclofen Responses in Fragile X Syndrome, Poster Presentation, 14th International Fragile X Conference, Orange County, California, July 2014
• N Tartaglia, R Wilson, J Ross, Evaluating ASD Characteristics in Males with Sex Chromosome Aneuploidy using the ADOS-2, Poster Presentation, Society for the Study of Behavioral Phenotypes Annual Meeting, New York City, October 2014
• M Snape, J Horrigan, L Glass, E Berry-Kravis, S Hatti, J Visootsak, J Frazier, N Tartaglia, A Kolevzon, M Tranfaglia, N Jones, Improving outcome measures for Fragile X syndrome clinical trials: Development of the Fragile X syndrome-specific Rating Scales, Poster Presentation, Society for the Study of Behavioral Phenotypes Annual Meeting, New York City, October 2014
• S Martin, L Cordeiro, S Davis, N Tartaglia, Association of Motor Skills with Adaptive Functioning in Children with XXY and XXYY Syndromes, Society for the Study of Behavioral Phenotypes Annual Meeting, New York City, October 2014
• A Colvin, S Howell, N Tartaglia “Gregory and His Extra X,” “Elizabeth and Her Extra X,” “Kyle and his Extra X and Y,” and “Jack and his Extra Y.” Series of 4 illustrated children’s books authored by genetic counseling student for parents and children with X&Y chromosome disorders. Copyright 2014, University of Colorado
• 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;8:323-34. PubMed PMID: 26229481
• Ross JL, Tartaglia N, Merry DE, Dalva M, Zinn AR. Behavioral phenotypes in males with XYY and possible role of increased NLGN4Y expression in autism features. Genes Brain Behav. 2015 Feb;14(2):137-44. PubMed PMID: 25558953
• 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
• 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
• Liu JA, Hagerman RJ, Miller RM, Craft LT, Finucane B, Tartaglia N, Berry-Kravis EM, Sherman SL, Kidd SA, Cohen J. Clinicians' experiences with the fragile X clinical and research consortium. Am J Med Genet A. 2016 Dec;170(12):3138-3143. PubMed PMID: 27604509
• 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
• N Tartaglia, R Wilson, J Miller, J Rafalko, L Cordeiro, S Davis, D Hessl, J Ross “Autism Spectrum Disorders in Males with Sex Chromosome Aneuploidy: XXY/Klinefelter syndrome, XYY, and XXYY,” Journal of Developmental-Behavioral Pediatrics, in press
• Sison V, Stackhouse T, Breeze R, Hall T, McKenzie P, Tartaglia N. Arteriovenous Malformation in a Youth with Atypical Autism Symptoms. J Child Dev Disord. 2017;3(1). PubMed PMID: 28989994
• Dy ABC, Tassone F, Eldeeb M, Salcedo-Arellano MJ, Tartaglia N, Hagerman R. Metformin as targeted treatment in fragile X syndrome. Clin Genet. 2017 Apr 24. [Epub ahead of print] PubMed PMID: 28436599
• Tartaglia NR, Wilson R, Miller JS, Rafalko J, Cordeiro L, Davis S, Hessl D, Ross J. Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: XXY/Klinefelter Syndrome, XYY, and XXYY. J Dev Behav Pediatr. 2017 Apr;38(3):197-207. PubMed PMID: 28333849
• Ross JL, Kushner H, Kowal K, Bardsley M, Davis S, Reiss AL, Tartaglia N, Roeltgen D. Androgen Treatment Effects on Motor Function, Cognition, and Behavior in Boys with Klinefelter Syndrome. J Pediatr. 2017 Jun;185:193-199.e4. PubMed PMID: 28285751
• L Cordeiro, R Wilson, N Tartaglia, “Sex Chromosome Aneuploidy: XXYY” Chapter in Brenner’s Encyclopedia of Genetics 3rd Edition, editors Stanley Maloy and Kelly Hughes, 2017.
• K Wigby, K Messer, C D’Epagnier, S. Howell, N Tartaglia, R Wilson, “Sex Chromosome Aneuploidy: Trisomy X” Chapter in Brenner’s Encyclopedia of Genetics 3rd Edition, editors Stanley Maloy and Kelly Hughes, 2017
• Martin S, Cordeiro L, Richardson P, Davis S, Tartaglia N. The Association of Motor Skills and Adaptive Functioning in XXY/Klinefelter and XXYY Syndromes. Phys Occup Ther Pediatr. 2018 Dec 28;:1-14. [Epub ahead of print] PubMed PMID: 30592247
• Dy ABC, Tassone F, Eldeeb M, Salcedo-Arellano MJ, Tartaglia N, Hagerman R. Metformin as targeted treatment in fragile X syndrome. Clin Genet. 2018 Feb;93(2):216-222. PubMed PMID: 28436599
• Clinical Developmental, Neuropsychological, and Social-Emotional Features of Turner Syndrome, American Journal of Medical Genetics Part C – Seminars in Medical Genetics, in press.
• Treatment of Fragile X Syndrome with Cannabidiol: A Case Series Study and Brief Review of the Literature,” Cannabis and Cannabinoid Research, in press.
• McCabe KL, Popa AM, Durdle C, Amato M, Cabaral MH, Cruz J, Wong LM, Harvey D, Tartaglia N, Simon TJ. Quantifying the resolution of spatial and temporal representation in children with 22q11.2 deletion syndrome. J Neurodev Disord. 2019 Dec 20;11(1):40. PubMed PMID: 31861974
• Davis SM, Reynolds RM, Dabelea DM, Zeitler PS, Tartaglia NR. Testosterone Treatment in Infants With 47,XXY: Effects on Body Composition. J Endocr Soc. 2019 Dec 1;3(12):2276-2285. PubMed PMID: 31737857
• Berry-Kravis E, Kidd SA, Lachiewicz AM, Choo TH, Tartaglia N, Talapatra D, Aguirre-Kolb C, Andrews H, Riley K. Toilet Training in Fragile X Syndrome. J Dev Behav Pediatr. 2019 Dec;40(9):751-761. PubMed PMID: 31593026
• Eckert EM, Dominick KC, Pedapati EV, Wink LK, Shaffer RC, Andrews H, Choo TH, Chen C, Kaufmann WE, Tartaglia N, Berry-Kravis EM, Erickson CA. Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis. J Autism Dev Disord. 2019 Nov;49(11):4595-4602. PubMed PMID: 31468273
• Tartaglia N, Bonn-Miller M, Hagerman R. Treatment of Fragile X Syndrome with Cannabidiol: A Case Series Study and Brief Review of the Literature. Cannabis Cannabinoid Res. 2019;4(1):3-9. PubMed PMID: 30944868
• 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
• Martin S, Cordeiro L, Richardson P, Davis S, Tartaglia N. The Association of Motor Skills and Adaptive Functioning in XXY/Klinefelter and XXYY Syndromes. Phys Occup Ther Pediatr. 2019;39(4):446-459. PubMed PMID: 30592247
• Westmark CJ, Kniss C, Sampene E, Wang A, Milunovich A, Elver K, Hessl D, Talboy A, Picker J, Haas-Givler B, Esler A, Gropman AL, Uy R, Erickson C, Velinov M, Tartaglia N, Berry-Kravis EM. Soy-Based Infant Formula is Associated with an Increased Prevalence of Comorbidities in Fragile X Syndrome. Nutrients. 2020 Oct 14;12(10). PubMed PMID: 33066511
• Berry-Kravis E, Horrigan JP, Tartaglia N, Hagerman R, Kolevzon A, Erickson CA, Hatti S, Snape M, Yaroshinsky A, Stoms G, Glass L, Jones NE. A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Fragile X Syndrome. Pediatr Neurol. 2020 Sep;110:30-41. PubMed PMID: 32660869
• 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
• Wigby K, Cordeiro L, Wilson R, Angkustsiri K, Simon TJ, Tartaglia N. Adaptive functioning in children and adolescents with Trisomy X: An exploratory analysis. Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):456-468. PubMed PMID: 32548885
• Davis SM, DeKlotz S, Nadeau KJ, Kelsey MM, Zeitler PS, Tartaglia NR. High prevalence of cardiometabolic risk features in adolescents with 47,XXY/Klinefelter syndrome. Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):327-333. PubMed PMID: 32542985
• 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
• Cordeiro L, Villagomez A, Swain D, Deklotz S, Tartaglia N. Adaptive Skills in FXS: A Review of the Literature and Evaluation of the PEDI-Computer Adaptive Test (PEDI-CAT) to Measure Adaptive Skills. Brain Sci. 2020 Jun 6;10(6). PubMed PMID: 32517224
• 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
• Gravholt CH, Tartaglia N, Disteche C. Sex chromosome aneuploidies in 2020-The state of care and research in the world. Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):197-201. PubMed PMID: 32496026
• 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
• Cordeiro L, Braden M, Coan E, Welnick N, Tanda T, Tartaglia N. Evaluating Social Interactions Using the Autism Screening Instrument for Education Planning-3rd Edition (ASIEP-3): Interaction Assessment in Children and Adults with Fragile X Syndrome. Brain Sci. 2020 Apr 22;10(4). PubMed PMID: 32331269
• Reisinger DL, Shaffer RC, Tartaglia N, Berry-Kravis E, Erickson CA. Delineating Repetitive Behavior Profiles across the Lifespan in Fragile X Syndrome. Brain Sci. 2020 Apr 17;10(4). PubMed PMID: 32316611
• Coffman MC, Shaffer RC, Schmitt LM, Dominick KC, Pedapati E, Wang A, Berry-Kravis E, Tartaglia N, Erickson CA. Examination of Correlates to Health-Related Quality of Life in Individuals with Fragile X Syndrome. Brain Sci. 2020 Apr 4;10(4). PubMed PMID: 32260381
• Hoffmann A, Wang A, Berger N, Cordeiro L, Shaffer R, Tartaglia N, Erickson C, Berry-Kravis E. Language across the Lifespan in Fragile X Syndrome: Characteristics and Considerations for Assessment. Brain Sci. 2020 Apr 4;10(4). PubMed PMID: 32260354
• 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
• Berry-Kravis E, Hagerman R, Budimirovic D, Erickson C, Heussler H, Tartaglia N, Cohen J, Tassone F, Dobbins T, Merikle E, Sebree T, Tich N, Palumbo JM, O'Quinn S. A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX). J Neurodev Disord. 2022 Nov 25;14(1):56. PubMed PMID: 36434514
• Budimirovic DB, Dominick KC, Gabis LV, Adams M, Adera M, Huang L, Ventola P, Tartaglia NR, Berry-Kravis E. Gaboxadol in Fragile X Syndrome: A 12-Week Randomized, Double-Blind, Parallel-Group, Phase 2a Study. Front Pharmacol. 2021;12:757825. PubMed PMID: 34690787
• 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
• Bouw N, Swaab H, Tartaglia N, Wilson RL, Van der Velde K, van Rijn S. Early symptoms of autism spectrum disorder (ASD) in 1-8 year old children with sex chromosome trisomies (XXX, XXY, XYY), and the predictive value of joint attention. Eur Child Adolesc Psychiatry. 2022 Sep 15. [Epub ahead of print] PubMed PMID: 36107256
• Urbanus E, Swaab H, Tartaglia N, Boada R, van Rijn S. [Formula: see text]A cross-sectional study of early language abilities in children with sex chromosome trisomy (XXY, XXX, XYY) aged 1-6 years. Child Neuropsychol. 2022 Feb;28(2):171-196. PubMed PMID: 34346838
• Kuiper K, Swaab H, Tartaglia N, van Rijn S. Early developmental impact of sex chromosome trisomies on attention deficit-hyperactivity disorder symptomology in young children. Am J Med Genet A. 2021 Dec;185(12):3664-3674. PubMed PMID: 34240550
• Bouw N, Swaab H, Tartaglia N, van Rijn S. The Impact of Sex Chromosome Trisomies (XXX, XXY, XYY) on Early Social Cognition: Social Orienting, Joint Attention, and Theory of Mind. Arch Clin Neuropsychol. 2021 Jun 9. [Epub ahead of print] PubMed PMID: 34101798
• 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
• Bouw N, Swaab H, Tartaglia N, Cordeiro L, van Rijn S. The impact of sex chromosome trisomies (XXX, XXY, XYY) on gaze towards faces and affect recognition: a cross-sectional eye tracking study. J Neurodev Disord. 2022 Aug 2;14(1):44. PubMed PMID: 35918661
• Kuiper KC, Swaab H, Tartaglia N, Cordeiro L, van Rijn S. Emotional reactivity and expressivity in young children with sex chromosome trisomies: evidence from psychophysiological and observational data. Child Neuropsychol. 2022 Jul 25;:1-19. [Epub ahead of print] PubMed PMID: 35876333
• Kuiper KC, Swaab H, Tartaglia N, van Buggenhout G, Wouters C, van Rijn S. The developmental impact of sex chromosome trisomies on emerging executive functions in young children: Evidence from neurocognitive tests and daily life skills. Genes Brain Behav. 2022 Jul;21(6):e12811. PubMed PMID: 35584398
• Bouw N, Swaab H, Tartaglia N, Cordeiro L, van Rijn S. Early Social Behavior in Young Children with Sex Chromosome Trisomies (XXX, XXY, XYY): Profiles of Observed Social Interactions and Social Impairments Associated with Autism Spectrum Disorder (ASD). J Autism Dev Disord. 2022 May 12. [Epub ahead of print] PubMed PMID: 35551591
• Thompson T, Stinnett N, Tartaglia N, Davis S, Janusz J. 'I Wish the School Had a Better Understanding of the Diagnosis': parent perspectives on educational needs of students with sex chromosome aneuploidies. J Res Spec Educ Needs. 2022 Apr;22(2):175-187. PubMed PMID: 35529320
• Urbanus E, Swaab H, Tartaglia N, Stumpel C, van Rijn S. Structural and pragmatic language in young children with sex chromosome trisomy (XXX, XXY, XYY): predictive value for neurobehavioral problems one year later. Clin Neuropsychol. 2022 Apr 28;:1-26. [Epub ahead of print] PubMed PMID: 35477417
• Bouw N, Swaab H, Tartaglia N, Jansen AC, van Rijn S. Early impact of X- and Y-chromosome variations (XXX, XXY, XYY) on social communication and social emotional development in 1-2-year-old children. Am J Med Genet A. 2022 Jul;188(7):1943-1953. PubMed PMID: 35285124
• Bouw N, Swaab H, Tartaglia N, van Rijn S. The Impact of Sex Chromosome Trisomies (XXX, XXY, XYY) on Early Social Cognition: Social Orienting, Joint Attention, and Theory of Mind. Arch Clin Neuropsychol. 2022 Jan 17;37(1):63-77. PubMed PMID: 34101798
• Urbanus E, Swaab H, Tartaglia N, Boada R, van Rijn S. [Formula: see text]A cross-sectional study of early language abilities in children with sex chromosome trisomy (XXY, XXX, XYY) aged 1-6 years. Child Neuropsychol. 2022 Feb;28(2):171-196. PubMed PMID: 34346838
• S Howell, E Coan, K Slaymaker, R Hagerman, N Tartaglia, “Fragile X Syndrome”, Textbook of Developmental-Behavioral Pediatrics, 5th Edition, Eds. William Carey, William Coleman, Allen Crocker, Ellen Elias, Heidi Feldman, anticipated 2022
• K Wigby, S Davis, M Brown, T Thompson, N Tartaglia, “Sex Chromosome Aneuploidy”, Textbook of Developmental-Behavioral Pediatrics, 5th Edition, Eds. William Carey, William Coleman, Allen Crocker, Ellen Elias, Heidi Feldman, anticipated 2022
• Albizua I, Charen K, Shubeck L, Talboy A, Berry-Kravis E, Kaufmann WE, Stallworth JL, Drazba KT, Erickson CA, Sweeney JA, Tartaglia N, Warren SF, Hagerman R, Sherman SL, Warren ST, Jin P, Allen EG. Descriptive analysis of seizures and comorbidities associated with fragile X syndrome. Mol Genet Genomic Med. 2022 Aug;10(8):e2001. PubMed PMID: 35852003
• Urbanus E, Swaab H, Tartaglia N, van Rijn S. Social Communication in Young Children With Sex Chromosome Trisomy (XXY, XXX, XYY): A Study With Eye Tracking and Heart Rate Measures. Arch Clin Neuropsychol. 2023 Nov 20. [Epub ahead of print] PubMed PMID: 37987192
• 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
• San Roman AK, Skaletsky H, Godfrey AK, Bokil NV, Teitz L, Singh I, Blanton LV, Bellott DW, Pyntikova T, Lange J, Koutseva N, Hughes JF, Brown L, Phou S, Buscetta A, Kruszka P, Banks N, Dutra A, Pak E, Lasutschinkow PC, Keen C, Davis SM, Lin AE, Tartaglia NR, Samango-Sprouse C, Muenke M, Page DC. The human Y and inactive X chromosomes similarly modulate autosomal gene expression. bioRxiv. 2023 Jun 7. PubMed PMID: 37333288
• Kuiper K, Swaab H, Tartaglia N, van Rijn S. (Not) getting what you want: frustration and emotion regulation in children with sex chromosome trisomies. Endocr Connect. 2023 Jun 1;12(6). PubMed PMID: 37183811
• 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
• San Roman AK, Godfrey AK, Skaletsky H, Bellott DW, Groff AF, Harris HL, Blanton LV, Hughes JF, Brown L, Phou S, Buscetta A, Kruszka P, Banks N, Dutra A, Pak E, Lasutschinkow PC, Keen C, Davis SM, Tartaglia NR, Samango-Sprouse C, Muenke M, Page DC. The human inactive X chromosome modulates expression of the active X chromosome. Cell Genom. 2023 Feb 8;3(2):100259. PubMed PMID: 36819663
• Gravholt CH, Ferlin A, Gromoll J, Juul A, Raznahan A, van Rijn S, Rogol AD, Skakkebæk A, Tartaglia N, Swaab H. New developments and future trajectories in supernumerary sex chromosome abnormalities: a summary of the 2022 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY. Endocr Connect. 2023 Mar 1;12(3). PubMed PMID: 36598290
• 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
• Bouw N, Swaab H, Tartaglia N, Wilson RL, Van der Velde K, van Rijn S. Early symptoms of autism spectrum disorder (ASD) in 1-8 year old children with sex chromosome trisomies (XXX, XXY, XYY), and the predictive value of joint attention. Eur Child Adolesc Psychiatry. 2023 Nov;32(11):2323-2334. PubMed PMID: 36107256
• Kuiper KC, Swaab H, Tartaglia N, Cordeiro L, van Rijn S. [Formula: see text] Emotional reactivity and expressivity in young children with sex chromosome trisomies: evidence from psychophysiological and observational data. Child Neuropsychol. 2023 May;29(4):569-587. PubMed PMID: 35876333
• Urbanus E, Swaab H, Tartaglia N, Stumpel C, van Rijn S. Structural and pragmatic language in young children with sex chromosome trisomy (XXX, XXY, XYY): Predictive value for neurobehavioral problems one year later. Clin Neuropsychol. 2023 Apr;37(3):650-675. PubMed PMID: 35477417
• Bouw N, Swaab H, Tartaglia N, Cordeiro L, van Rijn S. Early Social Behavior in Young Children with Sex Chromosome Trisomies (XXX, XXY, XYY): Profiles of Observed Social Interactions and Social Impairments Associated with Autism Spectrum Disorder (ASD). J Autism Dev Disord. 2023 Aug;53(8):3194-3207. PubMed PMID: 35551591

Professional Memberships

• American Academy of Pediatrics (AAP), Fellow
• Society for Developmental Behavioral Pediatrics, Member
• Society for the Study of Behavioral Phenotypes, Member
• Western Society for Pediatric Research (WSPR), Member

Practice Locations

• Children's Hospital Colorado

• JFK Partners

Specialty Information

• Pediatrics, Board Certification (2003, 2010)
• Developmental-Behavioral Pediatrics, Board Certification (2008)

• Mental Health and Behavior
• Child and Teen Health
• Brain and Nervous System
• Genetic Conditions and Testing