Walter E. Kaufmann, M.D.

Adjunct Professor

Research Interests

My research activities cover a wide range of approaches to the study of neurodevelopment disabilities, from a translational perspective. My main focus is the study of genetic disorders associated with intellectual disability and autism, with emphasis on the bases, characteristics, and treatment of social interaction impairments. The work focuses on Down syndrome, Rett syndrome, and fragile X syndrome, and includes molecular profiling, characterization of mouse models, delineation of structural neuroimaging abnormalities, characterization of neurobehavioral phenotypes, and molecular-neurobehavioral correlations. In line with a translational research focus, in addition to design and implementation of clinical trials, a recent emphasis on my work has been identification of biomarkers and development of outcome measures.

Areas of Specialization

  • Neurobehavioral phenotyping and data analysis
  • Clinical trial design and implementation
  • Natural history studies
  • Genotype-phenotype analyses
  • Structural MRI techniques
  • Neurobehavioral outcome measure development and evaluation
  • Molecular and data signal biomarker development


  • BA and MD, University of Chile, 1982
  • MA (Hon), Harvard University, 2013
  • Neurobiology & Behavioral Sciences Graduate Program, University of Chile, 1983-1986
  • Pediatrics and Child Neurology Residency, University of Chile, 1983-1986
  • Neurology Postdoctoral Fellowship, Beth Israel Hospital/Harvard Medical School, 1986-1988
  • Anatomic Pathology Residency, Boston Children┬┐s Hospital/ Harvard Medical School, 1988-1989
  • Anatomic Pathology and Neuropathology Residencies, Johns Hopkins Medicine, 1989-1992


View publications on PubMed (

Tarquinio DC, Hou W, Neul JL, Berkmen GK, Drummond J, Aronoff E, Harris J, Lane JB, Kaufmann WE, Motil KJ, Glaze DG, Skinner SA, Percy AK. The course of awake breathing disturbances across the lifespan in Rett syndrome. Brain Dev. 2018 Apr 12. pii: S0387-7604(18)30106-2.

O'Leary HM, Kaufmann WE, Barnes KV, Rakesh K, Kapur K, Tarquinio DC, Cantwell NG, Roche KJ, Rose SA, Walco AC, Bruck NM, Bazin GA, Holm IA, Alexander ME, Swanson LC, Baczewski LM, Mayor Torres JM, Nelson CA 3rd, Sahin M. Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome. Ann Clin Transl Neurol. 2018 Jan 31;5(3):323-332.

Mitz AR, Philyaw TJ, Boccuto L, Shcheglovitov A, Sarasua SM, Kaufmann WE, Thurm A. Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome. Eur J Hum Genet. 2018 Mar;26(3):293-302.

Clarkson T, LeBlanc J, DeGregorio G, Vogel-Farley V, Barnes K, Kaufmann WE, Nelson CA. Adapting the Mullen Scales of Early Learning for a Standardized Measure of Development in Children With Rett Syndrome. Intellect Dev Disabil. 2017 Dec;55(6):419-431.

O'Leary HM, Mayor JM, Chi-Sang Poon, Kaufmann WE, Sahin M. Classification of respiratory disturbances in Rett Syndrome patients using Restricted Boltzmann Machine. Conf Proc IEEE Eng Med Biol Soc. 2017 Jul;2017:442-445.

Dy ME, Waugh JL, Sharma N, O'Leary H, Kapur K, D'Gama AM, Sahin M, Urion DK, Kaufmann WE. Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective. Pediatr Neurol. 2017 Oct;75:91-95.

Kaufmann WE, Kidd SA, Andrews HF, Budimirovic DB, Esler A, Haas-Givler B, Stackhouse T, Riley C, Peacock G, Sherman SL, Brown WT, Berry-Kravis E. Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment. Pediatrics. 2017 Jun;139(Suppl 3):S194-S206.

Sherman SL, Kidd SA, Riley C, Berry-Kravis E, Andrews HF, Miller RM, Lincoln S, Swanson M, Kaufmann WE, Brown WT. FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome. Pediatrics. 2017 Jun;139(Suppl 3):S183-S193.

Budimirovic DB, Berry-Kravis E, Erickson CA, Hall SS, Hessl D, Reiss AL, King MK, Abbeduto L, Kaufmann WE. Updated report on tools to measure outcomes of clinical trials in fragile X syndrome. J Neurodev Disord. 2017 Jun 12;9:14.

Erickson CA, Davenport MH, Schaefer TL, Wink LK, Pedapati EV, Sweeney JA, Fitzpatrick SE, Brown WT, Budimirovic D, Hagerman RJ, Hessl D, Kaufmann WE, Berry-Kravis E. Fragile X targeted pharmacotherapy: lessons learned and future directions. J Neurodev Disord. 2017 Jun 12;9:7.

Berry-Kravis E, Hagerman R, Visootsak J, Budimirovic D, Kaufmann WE, Cherubini M, Zarevics P, Walton-Bowen K, Wang P, Bear MF, Carpenter RL. Arbaclofen in fragile X syndrome: results of phase 3 trials. J Neurodev Disord. 2017 Jun 12;9:3.

Marschik PB, Pokorny FB, Peharz R, Zhang D, O'Muircheartaigh J, Roeyers H, Bölte S, Spittle AJ, Urlesberger B, Schuller B, Poustka L, Ozonoff S, Pernkopf F, Pock T, Tammimies K, Enzinger C, Krieber M, Tomantschger I, Bartl-Pokorny KD, Sigafoos J, Roche L, Esposito G, Gugatschka M, Nielsen-Saines K, Einspieler C, Kaufmann WE; BEE-PRI Study Group. A Novel Way to Measure and Predict Development: A Heuristic Approach to Facilitate the Early Detection of Neurodevelopmental Disorders. Curr Neurol Neurosci Rep. 2017 May;17(5):43.

Killian JT, Lane JB, Lee HS, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK. Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors. Pediatr Neurol. 2017 May;70:20-25.

Kaufmann WE, Stallworth JL, Everman DB, Skinner SA. Neurobiologically-based treatments in Rett syndrome: opportunities and challenges. Expert Opin Orphan Drugs. 2016 Oct 2;4(10):1043-1055.

Kaufmann WE. Neurogenetics in Child Neurology: Redefining a Discipline in the Twenty-first Century. Curr Neurol Neurosci Rep. 2016 Dec;16(12):103.