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Profile

Amy Talboy MD

  • Department of Human Genetics
    Assistant Professor
  • (404) 778-8570
  • amy.talboy@emory.edu
Head shot of Amy Talboy

Overview

I am a Neurodevelopmental Pediatrician in the Division of Medical Genetics. I serve as Medical Director of the Down Syndrome, Fragile X Syndrome, and eXtraordinarY (X & Y chromosome aneuploidies) Clinics at Emory. I specialize in the diagnosis, treatment, and management of developmental and behavioral disorders in children and adolescents, particularly co-occurring developmental and behavioral differences associated with known genetic syndromes and other genetically based disorders. I have experience and expertise in the areas of developmental delay, intellectual disability, language disorders, learning disabilities, attention deficit hyperactivity disorder, autism spectrum disorder, motor delays, and cerebral palsy.

I trained in Pediatrics at Childrens Hospital of the Kings Daughters, Eastern Virginia School of Medicine. I completed a fellowship in Neurodevelopmental Disabilities and Developmental Behavioral Pediatrics at the Kennedy Krieger Institute, Johns Hopkins University School of Medicine. As a fellow, I was involved in research and advanced study with the Down syndrome program. After training, I became a member of the Emory University Pediatrics faculty based at the Marcus Institute for Development and Learning, where I served as Medical Director of Infant Services, Consultant to the NICU Follow-up Program in the Division of Neonatology at Emory, and Developmental Director of the International Adoption Evaluation Center. When the Marcus Institute became a subsidiary of the Kennedy Krieger Institute, I served as Interim Medical Director and then Director of Neurodevelopmental Pediatric Clinics across its Atlanta locations. I developed significant clinical experience and expertise in the area of Autism Spectrum Disorders and became Senior Neurodevelopmental Pediatrician for the Marcus Autism Center when it opened its doors in 2008. While employed at the Marcus Autism Center, the largest center for clinical care of children with autism in the country (serving more than 5,500 children annually), I gained unique expertise related to clinical aspects of known genetic causes of autism, provided medical and developmental expertise and dysmorphology evaluations for an interdisciplinary Fetal Alcohol and Other Prenatal Exposures Program, ran an active Developmental Pediatric Medication Clinic, and provided medical oversight for the Feeding Disorders Program as well as for the Behavior Treatment Clinics. These broad and deep clinical experiences prepared me well for my current role in the Department of Human Genetics, working with people and families impacted by Down syndrome, Fragile X syndrome, and XY chromosome variations.

Research Interests

-Clinical trials of therapies for genetic disorders, particularly Fragile X syndrome.
-Understanding physical/medical, developmental and behavioral phenotypes of persons with rare sex chromosome variations, and the impact on daily living and quality of life.

Areas of Specialization

-Down syndrome
-Fragile X syndrome
-X&Y Chromosome Variations (X & Y chromosome aneuploidy)
-Autism Spectrum Disorder
-Developmental and Behavioral differences associated with known genetic syndromes and other genetically based disorders

Academic Appointment

  • Assistant Professor, Human Genetics (primary), Emory University School of Medicine
  • Assistant Professor, Pediatrics (secondary), Emory University School of Medicine

Education

Degrees

  • BA from Randolph-Macon Woman’s College
  • MD from Eastern Virginia Medical School

Research

Publications

  • Joint kinematics and SPM analysis of gait in children with and without Down syndrome.
    Hum Mov Sci Volume: 95 Page(s): 103213
    06/01/2024 Authors: Beerse M; Larsen K; Alam T; Talboy A; Wu J
  • Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome.
    J Autism Dev Disord Volume: 54 Page(s): 725 - 737
    02/01/2024 Authors: Kaufmann WE; Raspa M; Bann CM; Gable JM; Harris HK; Budimirovic DB; Lozano R; FORWARD Consortium
  • Descriptive analysis of seizures and comorbidities associated with fragile X syndrome.
    Mol Genet Genomic Med Volume: 10 Page(s): e2001
    08/01/2022 Authors: Albizua I; Charen K; Shubeck L; Talboy A; Berry-Kravis E; Kaufmann WE; Stallworth JL; Drazba KT; Erickson CA; Sweeney JA
  • Congenital adrenal hyperplasia in a child with 47, XYY: Case report.
    J Pediatr Nurs Volume: 65 Page(s): 127 - 128
    01/01/2022 Authors: Close S; Talboy A
  • Cross-Sectional Exploration of Plasma Biomarkers of Alzheimer's Disease in Down Syndrome: Early Data from the Longitudinal Investigation for Enhancing Down Syndrome Research (LIFE-DSR) Study.
    J Clin Med Volume: 10
    04/28/2021 Authors: Hendrix JA; Airey DC; Britton A; Burke AD; Capone GT; Chavez R; Chen J; Chicoine B; Costa ACS; Dage JL
  • Soy-Based Infant Formula is Associated with an Increased Prevalence of Comorbidities in Fragile X Syndrome.
    Nutrients Volume: 12
    10/14/2020 Authors: Westmark CJ; Kniss C; Sampene E; Wang A; Milunovich A; Elver K; Hessl D; Talboy A; Picker J; Haas-Givler B
  • Rare sex chromosome variation 48,XXYY: An integrative review.
    Am J Med Genet C Semin Med Genet Volume: 184 Page(s): 386 - 403
    06/01/2020 Authors: Blumling AA; Martyn K; Talboy A; Close S
  • Complexities of Care in Klinefelter Syndrome: An APRN Perspective.
    Pediatr Endocrinol Rev Volume: 14 Page(s): 462 - 471
    06/01/2017 Authors: Close S; Talboy A; Fennoy I
  • Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
    Am J Hum Genet Volume: 87 Page(s): 618 - 630
    11/12/2010 Authors: Moreno-De-Luca D; SGENE Consortium; Mulle JG; Simons Simplex Collection Genetics Consortium; Kaminsky EB; Sanders SJ; GeneSTAR; Myers SM; Adam MP; Pakula AT
  • Cerebral palsy: classification and epidemiology.
    Phys Med Rehabil Clin N Am Volume: 20 Page(s): 425 - 452
    08/01/2009 Authors: Pakula AT; Van Naarden Braun K; Yeargin-Allsopp M
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