Walter E Kaufmann

Summary

Affiliation: Kennedy Krieger Institute
Country: USA

Publications

  1. pmc Autistic behavior in boys with fragile X syndrome: social approach and HPA-axis dysfunction
    Jane E Roberts
    Department of Psychology, Barnwell College University of South Carolina, Columbia, SC, USA
    J Neurodev Disord 1:283-91. 2009
  2. doi request reprint Social impairments in Rett syndrome: characteristics and relationship with clinical severity
    W E Kaufmann
    Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    J Intellect Disabil Res 56:233-47. 2012
  3. ncbi request reprint Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviors
    Walter E Kaufmann
    Kennedy Krieger Institute, Baltimore, Maryland 21211, USA
    Am J Med Genet A 129:225-34. 2004
  4. ncbi request reprint Histone modifications in Rett syndrome lymphocytes: a preliminary evaluation
    Walter E Kaufmann
    Kennedy Krieger Institute and Johns Hopkins University School of Medicine, 3901 Greenspring Avenue, Baltimore, MD 21205, USA
    Brain Dev 27:331-9. 2005
  5. pmc Autism spectrum disorder in fragile X syndrome: a longitudinal evaluation
    R Nick Hernandez
    Kennedy Krieger Institute, Baltimore, MD 21211, USA
    Am J Med Genet A 149:1125-37. 2009
  6. ncbi request reprint Autism spectrum disorder in Fragile X syndrome: differential contribution of adaptive socialization and social withdrawal
    Dejan B Budimirovic
    Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Baltimore, Maryland 21211, USA
    Am J Med Genet A 140:1814-26. 2006
  7. ncbi request reprint MeCP2 expression in human cerebral cortex and lymphoid cells: immunochemical characterization of a novel higher-molecular-weight form
    Mohammed H Jarrar
    Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    J Child Neurol 18:675-82. 2003
  8. pmc Comprehensive examination of frontal regions in boys and girls with attention-deficit/hyperactivity disorder
    E Mark Mahone
    Department of Neuropsychology, Kennedy Krieger Institute, Baltimore, Maryland 21231, USA
    J Int Neuropsychol Soc 17:1047-57. 2011
  9. ncbi request reprint Social behavior profile in young males with fragile X syndrome: characteristics and specificity
    Alice S M Kau
    Kennedy Krieger Institute, Baltimore, Maryland 21205, USA
    Am J Med Genet A 126:9-17. 2004
  10. pmc Increased regional fractional anisotropy in highly screened attention-deficit hyperactivity disorder (ADHD)
    Daniel J Peterson
    Kennedy Krieger Institute, Baltimore, MD 21231, USA
    J Child Neurol 26:1296-302. 2011

Research Grants

  1. Lymphocytic Targets and Behavior in Fragile X
    Walter Kaufmann; Fiscal Year: 2004
  2. Clinical Trials in Rett Syndrome Conference
    Walter Kaufmann; Fiscal Year: 2005

Collaborators

Detail Information

Publications40

  1. pmc Autistic behavior in boys with fragile X syndrome: social approach and HPA-axis dysfunction
    Jane E Roberts
    Department of Psychology, Barnwell College University of South Carolina, Columbia, SC, USA
    J Neurodev Disord 1:283-91. 2009
    ..Boys with FXS and ASD have distinct behavioral and neuroendocrine profiles that differentiate them from those with FXS alone and typically developing boys...
  2. doi request reprint Social impairments in Rett syndrome: characteristics and relationship with clinical severity
    W E Kaufmann
    Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    J Intellect Disabil Res 56:233-47. 2012
    ....
  3. ncbi request reprint Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviors
    Walter E Kaufmann
    Kennedy Krieger Institute, Baltimore, Maryland 21211, USA
    Am J Med Genet A 129:225-34. 2004
    ..Altogether, our findings demonstrate that the diagnosis of ASD in FraX reflects, to a large extent, an impairment in social interaction that is expressed with variable severity in young males with FraX...
  4. ncbi request reprint Histone modifications in Rett syndrome lymphocytes: a preliminary evaluation
    Walter E Kaufmann
    Kennedy Krieger Institute and Johns Hopkins University School of Medicine, 3901 Greenspring Avenue, Baltimore, MD 21205, USA
    Brain Dev 27:331-9. 2005
    ....
  5. pmc Autism spectrum disorder in fragile X syndrome: a longitudinal evaluation
    R Nick Hernandez
    Kennedy Krieger Institute, Baltimore, MD 21211, USA
    Am J Med Genet A 149:1125-37. 2009
    ..Our findings indicate that ASD is a distinctive subphenotype in FXS characterized by deficits in complex social interaction, with similarities to ASD in the general population...
  6. ncbi request reprint Autism spectrum disorder in Fragile X syndrome: differential contribution of adaptive socialization and social withdrawal
    Dejan B Budimirovic
    Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Baltimore, Maryland 21211, USA
    Am J Med Genet A 140:1814-26. 2006
    ....
  7. ncbi request reprint MeCP2 expression in human cerebral cortex and lymphoid cells: immunochemical characterization of a novel higher-molecular-weight form
    Mohammed H Jarrar
    Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    J Child Neurol 18:675-82. 2003
    ....
  8. pmc Comprehensive examination of frontal regions in boys and girls with attention-deficit/hyperactivity disorder
    E Mark Mahone
    Department of Neuropsychology, Kennedy Krieger Institute, Baltimore, Maryland 21231, USA
    J Int Neuropsychol Soc 17:1047-57. 2011
    ..Results highlight different patterns of anomalous frontal lobe development among boys and girls with ADHD beyond that detected by measuring whole lobar volumes...
  9. ncbi request reprint Social behavior profile in young males with fragile X syndrome: characteristics and specificity
    Alice S M Kau
    Kennedy Krieger Institute, Baltimore, Maryland 21205, USA
    Am J Med Genet A 126:9-17. 2004
    ..In agreement with recent studies, our data suggest that FraX+Aut, and more generally SBP, is a distinctive subphenotype among boys with FraX, which may share some pathophysiological mechanisms with IA...
  10. pmc Increased regional fractional anisotropy in highly screened attention-deficit hyperactivity disorder (ADHD)
    Daniel J Peterson
    Kennedy Krieger Institute, Baltimore, MD 21231, USA
    J Child Neurol 26:1296-302. 2011
    ....
  11. ncbi request reprint Specificity of cerebellar vermian abnormalities in autism: a quantitative magnetic resonance imaging study
    Walter E Kaufmann
    Kennedy Krieger Institute, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    J Child Neurol 18:463-70. 2003
    ..The latter results are consistent with MRI studies showing lobules VI-VII hyperplasia in a subset of subjects with idiopathic autism and cerebral and hippocampal enlargements in fragile X syndrome...
  12. pmc Manual MRI parcellation of the frontal lobe
    Marin E Ranta
    Laboratory for Neurocognitive Imaging and Research, Kennedy Krieger Institute, Baltimore, MD 21211, USA
    Psychiatry Res 172:147-54. 2009
    ..These findings support the method as a reliable and valid technique for parcellating the frontal lobe into functionally relevant sub-regions...
  13. pmc Brain metabolism in Rett syndrome: age, clinical, and genotype correlations
    Alena Horska
    Division of Neuroradiology, The Russell H Morgan Department of Radiology and Radiological Science, Johns Hopkins University, School of Medicine, Baltimore, MD, USA
    Ann Neurol 65:90-7. 2009
    ..Brain metabolism, as studied by magnetic resonance spectroscopy (MRS), has been previously shown to be abnormal in Rett syndrome (RTT). This study reports the relation of MRS findings to age, disease severity, and genotype...
  14. doi request reprint Characteristics and concordance of autism spectrum disorders among 277 twin pairs
    Rebecca E Rosenberg
    Department of Medical Informatics, Kennedy Krieger Institute, Baltimore, MD 21211, USA
    Arch Pediatr Adolesc Med 163:907-14. 2009
    ..To examine patterns of autism spectrum disorder (ASD) inheritance and other features in twin pairs by zygosity, sex, and specific ASD diagnosis...
  15. pmc White matter microstructural differences linked to left perisylvian language network in children with dyslexia
    Sheryl L Rimrodt
    Department of Developmental Cognitive Neurology, Kennedy Krieger Institute, 707 N Broadway, Baltimore, MD 21205, USA
    Cortex 46:739-49. 2010
    ....
  16. ncbi request reprint Autistic-spectrum disorders in Down syndrome: further delineation and distinction from other behavioral abnormalities
    John C Carter
    Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Baltimore, Maryland 21211, USA
    Am J Med Genet B Neuropsychiatr Genet 144:87-94. 2007
    ..Overall, our findings indicate that a diagnosis of DS + ASD represents a distinctive set of aberrant behaviors marked by characteristic odd/bizarre stereotypic behavior, anxiety, and social withdrawal...
  17. pmc Profiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndrome
    Peter B Marschik
    Institute of Physiology Developmental Physiology and Developmental Neuroscience IN spired, Center for Physiological Medicine, Medical University of Graz, Austria
    Res Dev Disabil 33:1749-56. 2012
    ..We conclude that, even among children with the preserved speech variant, socio-communicative deficits are present before regression and persist after this period...
  18. pmc A dual DTI approach to analyzing white matter in children with dyslexia
    John C Carter
    Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Baltimore, MD, United States
    Psychiatry Res 172:215-9. 2009
    ..Application of this complementary dual DTI approach to dyslexia, which included novel analyses of fiber orientation, demonstrates its usefulness for analyzing mild and complex WM abnormalities...
  19. ncbi request reprint MRI parcellation of the frontal lobe in boys with attention deficit hyperactivity disorder or Tourette syndrome
    Wendy R Kates
    Division of Psychiatric Neuroimaging, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Psychiatry Res 116:63-81. 2002
    ....
  20. doi request reprint Neuroanatomic correlates of autism and stereotypy in children with Down syndrome
    John C Carter
    Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Baltimore, MD 21211, USA
    Neuroreport 19:653-6. 2008
    ..Cerebellar white matter volumes were positively correlated with severity of stereotypies, a distinctive feature of ASD in DS...
  21. pmc What can we learn about autism from studying fragile X syndrome?
    Dejan B Budimirovic
    Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Baltimore, MD 21205, USA
    Dev Neurosci 33:379-94. 2011
    ..Nevertheless, recent studies provide intriguing new leads and suggest that a better understanding of the bases of ASD will require the integration of multidisciplinary data from FXS and other genetic disorders...
  22. doi request reprint Temporal and regional alterations in NMDA receptor expression in Mecp2-null mice
    Mary E Blue
    Hugo W Moser Research Institute at Kennedy Krieger, Inc, Baltimore, Maryland, USA
    Anat Rec (Hoboken) 294:1624-34. 2011
    ..Furthermore, the findings of regional and temporal differences in NMDA expression illustrate the importance of age and brain region in evaluating different genotypes of mice...
  23. doi request reprint Stability of initial autism spectrum disorder diagnoses in community settings
    Amy M Daniels
    Department of Medical Informatics, Kennedy Krieger Institute, 3825 Greenspring Avenue, Painter Building 1st Floor, Baltimore, MD 21211, USA
    J Autism Dev Disord 41:110-21. 2011
    ..Findings suggest that the present classification system and other secular factors may be contributing to increasing instability of community-assigned labels of ASD...
  24. ncbi request reprint Down syndrome and comorbid autism-spectrum disorder: characterization using the aberrant behavior checklist
    George T Capone
    Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA
    Am J Med Genet A 134:373-80. 2005
    ..This study demonstrates the feasibility of using the ABC to characterize the neurobehavioral phenotype of a cohort of children with trisomy 21 and ASD for ongoing research purposes...
  25. pmc Changing the perspective on early development of Rett syndrome
    Peter B Marschik
    Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, USA
    Res Dev Disabil 34:1236-9. 2013
    ....
  26. doi request reprint The behavioral phenotype of FMR1 mutations
    Lia Boyle
    Kennedy Krieger Institute s Fragile X Clinic, Baltimore, MD 21205, USA
    Am J Med Genet C Semin Med Genet 154:469-76. 2010
    ..We examine the neurobehavioral phenotypes of FXS and FMR1 premutation as they manifest across the lifespan of the individual...
  27. ncbi request reprint MeCP2 expression and function during brain development: implications for Rett syndrome's pathogenesis and clinical evolution
    Walter E Kaufmann
    Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, MD 21211, USA
    Brain Dev 27:S77-S87. 2005
    ..Two models are proposed for explaining general and regional neuronal abnormalities in RTT and the phenotypical outcome of MeCP2 dysfunction, respectively...
  28. ncbi request reprint Cerebral growth in Fragile X syndrome: review and comparison with Down syndrome
    Wendy R Kates
    aMRI Analysis Laboratory, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
    Microsc Res Tech 57:159-67. 2002
    ..These neuroimaging data are discussed in the context of FraX neurobiology and other developmental disorders...
  29. doi request reprint Trends in autism spectrum disorder diagnoses: 1994-2007
    Rebecca E Rosenberg
    Department of Medical Informatics, Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD, USA
    J Autism Dev Disord 39:1099-111. 2009
    ..Findings from this study suggest that current diagnostic guidelines may not be meeting all community evaluator needs...
  30. ncbi request reprint Longitudinal evolution of unidentified bright objects in children with neurofibromatosis-1
    Michael A Kraut
    Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
    Am J Med Genet A 129:113-9. 2004
    ..We conclude that studies like the present one, in association with other MR modalities, are necessary to characterize more completely the nature and evolution of UBOs and their role in the cognitive phenotype of NF-1...
  31. ncbi request reprint Early development in males with Fragile X syndrome: a review of the literature
    Alice S M Kau
    Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Microsc Res Tech 57:174-8. 2002
    ..Finally, deficits in social development in FraX include abnormal gaze, approach and avoidance conflict, and high incidence of autistic spectrum disorders...
  32. pmc Peculiarities in the gestural repertoire: an early marker for Rett syndrome?
    Peter B Marschik
    Institute of Physiology Developmental Physiology and Developmental Neuroscience IN spired, Center for Physiological Medicine, Medical University of Graz, Austria
    Res Dev Disabil 33:1715-21. 2012
    ..We conclude that the gestural abilities in girls with RTT appear to remain limited and do not constitute a compensatory mechanism for the verbal language modality...
  33. ncbi request reprint Molecular phenotype of Fragile X syndrome: FMRP, FXRPs, and protein targets
    Walter E Kaufmann
    Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Microsc Res Tech 57:135-44. 2002
    ....
  34. ncbi request reprint Smaller prefrontal and premotor volumes in boys with attention-deficit/hyperactivity disorder
    Stewart H Mostofsky
    Department of Neurology, Kennedy Krieger Institute, 707 N Broadway, Baltimore, MD 21205, USA
    Biol Psychiatry 52:785-94. 2002
    ..g., prefrontal cortex). We present an investigation of cerebral volumes in ADHD using a Talairach-based approach that uses cortical landmarks to define functionally relevant regions...
  35. doi request reprint αB-crystallin negative astrocytic inclusions
    Brad P Barnett
    Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Brain Dev 33:349-52. 2011
    ....
  36. ncbi request reprint In vivo quantitative proton MRSI study of brain development from childhood to adolescence
    Alena Horska
    The Russell H Morgan Department of Radiology and Radiological Science, Johns Hopkins University, School of Medicine, Baltimore, Maryland 21205, USA
    J Magn Reson Imaging 15:137-43. 2002
    ..To quantify regional variations in metabolite levels in the developing brain using quantitative proton MR spectroscopic imaging (MRSI). MATERIALS and..
  37. ncbi request reprint The diagnosis of autism in a female: could it be Rett syndrome?
    Deidra J Young
    Centre for Child Health Research, Telethon Institute for Child Health Research, University of Western Australia, Perth, WA, Australia
    Eur J Pediatr 167:661-9. 2008
    ..We recommend that females who are initially considered to have autism be carefully monitored for the evolution of the signs and symptoms of Rett syndrome...
  38. ncbi request reprint Social approach and autistic behavior in children with fragile X syndrome
    Jane E Roberts
    FPG Child Development Institute, University of North Carolina at Chapel Hill, Carrboro, NC 27510, USA
    J Autism Dev Disord 37:1748-60. 2007
    ..Selected social approach behaviors were related to autistic behavior. Increased eye contact over the course of a research assessment, in particular, was found to be a strong predictor of lower autistic behavior...
  39. ncbi request reprint Neurobiology of Fragile X syndrome: from molecular genetics to neurobehavioral phenotype
    Walter E Kaufmann
    Microsc Res Tech 57:131-4. 2002
  40. pmc Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature
    Bradford Coffee
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Am J Med Genet A 146:1358-67. 2008
    ..We review the literature of FMR1 deletions and present this case in the context of other FMR1 deletions having mental retardation that may or may not have the classic fragile X phenotype...

Research Grants2

  1. Lymphocytic Targets and Behavior in Fragile X
    Walter Kaufmann; Fiscal Year: 2004
    ..Because of their innovative approach to examining genotype-phenotype relationships, we believe that the proposed studies are in accordance with the purposes of the Exploratory/Developmental Grant (R21) Program. ..
  2. Clinical Trials in Rett Syndrome Conference
    Walter Kaufmann; Fiscal Year: 2005
    ..Proceedings of the conference will be published in a neurology journal and a report will be communicated 1:0 public and private funding agencies. ..