Susan E Waisbren

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. ncbi request reprint Expanded newborn screening: information and resources for the family physician
    Susan E Waisbren
    Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Am Fam Physician 77:987-94. 2008
  2. ncbi request reprint Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: a descriptive study
    Kevin M Antshel
    Department of Psychiatry, Children s Hospital Boston, Boston, MA, USA
    Neuropsychology 18:658-64. 2004
  3. ncbi request reprint Maternal phenylketonuria: a case study suggesting the use of prenatal psychotherapy to help control phenylalanine levels
    Kevin M Antshel
    Department of Psychiatry, Children s Hospital Boston, Boston, Massachusetts, USA
    Am J Orthopsychiatry 72:577-84. 2002
  4. pmc Impact of false-positive newborn metabolic screening results on early health care utilization
    Ellen A Lipstein
    Center for Child and Adolescent Health Policy, MassGeneral Hospital for Children, Boston, Massachusetts 02114, USA
    Genet Med 11:716-21. 2009
  5. ncbi request reprint Expanded newborn screening for biochemical disorders: the effect of a false-positive result
    Elizabeth A Gurian
    Department of Medicine, Children s Hospital Boston, Boston, MA 02115, USA
    Pediatrics 117:1915-21. 2006
  6. ncbi request reprint Pregnancy experiences in the woman with mild hyperphenylalaninemia
    Harvey L Levy
    Division of Genetics, Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Pediatrics 112:1548-52. 2003
  7. doi request reprint Parental tolerance of false-positive newborn screening results
    Lisa A Prosser
    Department of Ambulatory Care and Prevention, Harvard Medical School and Harvard Pilgrim Health Care, 133 Brookline Ave, Sixth Floor, Boston, MA 02215, USA
    Arch Pediatr Adolesc Med 162:870-6. 2008
  8. ncbi request reprint Brief report: Predictors of parenting stress among parents of children with biochemical genetic disorders
    Susan E Waisbren
    Children s Hospital and Harvard Medical School, Inborn Errors of Metabolism Clinic, Boston, Massachusetts 02115, USA
    J Pediatr Psychol 29:565-70. 2004
  9. doi request reprint Gender differences in research grant applications and funding outcomes for medical school faculty
    Susan E Waisbren
    Children s Hospital, Boston, Massachusetts, USA
    J Womens Health (Larchmt) 17:207-14. 2008
  10. doi request reprint Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening
    Susan E Waisbren
    Department of Psychology, Children s Hospital Boston and Harvard Medical School, Boston, Massachusetts 02115, USA
    Dev Disabil Res Rev 17:260-8. 2013

Collaborators

Detail Information

Publications22

  1. ncbi request reprint Expanded newborn screening: information and resources for the family physician
    Susan E Waisbren
    Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Am Fam Physician 77:987-94. 2008
    ....
  2. ncbi request reprint Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: a descriptive study
    Kevin M Antshel
    Department of Psychiatry, Children s Hospital Boston, Boston, MA, USA
    Neuropsychology 18:658-64. 2004
    ..Cognitive complications in galactosemia appear to emerge even in well-treated children...
  3. ncbi request reprint Maternal phenylketonuria: a case study suggesting the use of prenatal psychotherapy to help control phenylalanine levels
    Kevin M Antshel
    Department of Psychiatry, Children s Hospital Boston, Boston, Massachusetts, USA
    Am J Orthopsychiatry 72:577-84. 2002
    ..Implications for treating MPKU are discussed, and prenatal psychotherapy is forwarded as a means of improving birth outcomes in this population...
  4. pmc Impact of false-positive newborn metabolic screening results on early health care utilization
    Ellen A Lipstein
    Center for Child and Adolescent Health Policy, MassGeneral Hospital for Children, Boston, Massachusetts 02114, USA
    Genet Med 11:716-21. 2009
    ..To analyze the association between false-positive newborn screening results and health care utilization...
  5. ncbi request reprint Expanded newborn screening for biochemical disorders: the effect of a false-positive result
    Elizabeth A Gurian
    Department of Medicine, Children s Hospital Boston, Boston, MA 02115, USA
    Pediatrics 117:1915-21. 2006
    ..False-positive identifications may increase as disorders are added to screening panels. Concerns arise regarding the potential impact on parental stress, family relationships, and perceptions of the child's health...
  6. ncbi request reprint Pregnancy experiences in the woman with mild hyperphenylalaninemia
    Harvey L Levy
    Division of Genetics, Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Pediatrics 112:1548-52. 2003
    ..A major issue in maternal phenylketonuria (MPKU) has been whether maternal non-PKU mild hyperphenylalaninemia (MHP) is teratogenic. Such untreated pregnancies and their outcomes are presented on this report...
  7. doi request reprint Parental tolerance of false-positive newborn screening results
    Lisa A Prosser
    Department of Ambulatory Care and Prevention, Harvard Medical School and Harvard Pilgrim Health Care, 133 Brookline Ave, Sixth Floor, Boston, MA 02215, USA
    Arch Pediatr Adolesc Med 162:870-6. 2008
    ..To measure parental tolerance for a false-positive newborn screening result by assessing perceived quality of life for screening results and health states associated with expanded newborn screening programs for metabolic disorders...
  8. ncbi request reprint Brief report: Predictors of parenting stress among parents of children with biochemical genetic disorders
    Susan E Waisbren
    Children s Hospital and Harvard Medical School, Inborn Errors of Metabolism Clinic, Boston, Massachusetts 02115, USA
    J Pediatr Psychol 29:565-70. 2004
    ..To examine predictors of parenting stress in parents whose children were diagnosed with a biochemical genetic disorder clinically or through newborn screening...
  9. doi request reprint Gender differences in research grant applications and funding outcomes for medical school faculty
    Susan E Waisbren
    Children s Hospital, Boston, Massachusetts, USA
    J Womens Health (Larchmt) 17:207-14. 2008
    ..To evaluate whether there were differences in acquisition of research grant support between male and female faculty at eight Harvard Medical School-affiliated institutions...
  10. doi request reprint Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening
    Susan E Waisbren
    Department of Psychology, Children s Hospital Boston and Harvard Medical School, Boston, Massachusetts 02115, USA
    Dev Disabil Res Rev 17:260-8. 2013
    ....
  11. pmc The adult galactosemic phenotype
    Susan E Waisbren
    Children s Hospital Boston, Boston, MA, USA
    J Inherit Metab Dis 35:279-86. 2012
    ..Data on how individuals with galactosemia fare as adults will improve our ability to predict disease progression...
  12. ncbi request reprint Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress
    Susan E Waisbren
    Children s Hospital Boston, Mass 02115, USA
    JAMA 290:2564-72. 2003
    ..Questions about the effectiveness and risks of expanded newborn screening for biochemical genetic disorders need to be answered prior to its widespread acceptance as a state-mandated program...
  13. ncbi request reprint Developmental timing of exposure to elevated levels of phenylalanine is associated with ADHD symptom expression
    Kevin M Antshel
    Children s Hospital Boston, Division of Psychology, Department of Psychiatry, Harvard Medical School, Longwood Avenue, Boston, Massachusetts, USA
    J Abnorm Child Psychol 31:565-74. 2003
    ..This toxicity is dose-dependent and higher levels of phenylalanine appear more detrimental...
  14. ncbi request reprint Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis
    Susan E Waisbren
    Children s Hospital Boston, 1 Autumn Street, Room 525, Boston, MA 02115, USA
    Mol Genet Metab 92:63-70. 2007
    ..In conclusion, these results confirm a significant correlation between blood Phe level and IQ in patients with PKU, and support the use of Phe as a predictive biomarker for IQ in clinical trials...
  15. ncbi request reprint Cognitive and behavioral development in maternal phenylketonuria offspring
    Susan E Waisbren
    Department Psychiatry, Children s Hospital Boston and Harvard Medical School, Boston, Massachusetts 02115, USA
    Pediatrics 112:1544-7. 2003
    ..To assess cognitive and behavioral outcome in treated maternal phenylketonuria (PKU) offspring...
  16. pmc A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations
    Jennifer K Gentile
    NIH Rare Diseases Clinical Research Network Angelman, Rett, and Prader Willi Syndromes Consortium, Boston, MA, USA
    J Dev Behav Pediatr 31:592-601. 2010
    ..It is characterized by intellectual disability with minimal speech and certain behavioral characteristics. We used standardized measures to characterize the developmental profile and to analyze genotype-phenotype correlations in AS...
  17. ncbi request reprint Barriers to successful dietary control among pregnant women with phenylketonuria
    Amanda Savage Brown
    Division of Applied Public Health Training, Epidemiology Program Office, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
    Genet Med 4:84-9. 2002
    ..The teratogenic effects of maternal PKU are preventable, yet affected babies continue to be born. This study's purpose was to identify barriers to successful dietary control among pregnant women with PKU...
  18. ncbi request reprint Timing is everything: executive functions in children exposed to elevated levels of phenylalanine
    Kevin M Antshel
    Department of Psychiatry, Children s Hospital Boston and Harvard Medical School, USA
    Neuropsychology 17:458-68. 2003
    ..Executive function difficulties noted in PKU are consistent with attention deficit hyperactivity disorder (ADHD)-inattentive type, whereas maternal PKU offspring had executive function difficulties consistent with ADHD-combined type...
  19. ncbi request reprint Child and parent attributions in chronic pediatric conditions: phenylketonuria (PKU) as an exemplar
    Kevin M Antshel
    Children s Hospital Boston and Harvard Medical School, USA
    J Child Psychol Psychiatry 45:622-30. 2004
    ..This study assesses child and parent attributions in pediatric chronic health conditions and addresses how attributional style may be related to treatment adherence...
  20. ncbi request reprint Newborn screening for metabolic disorders
    Susan E Waisbren
    JAMA 296:993-5. 2006
  21. ncbi request reprint Expanded screening of newborns for genetic disorders
    Susan E Waisbren
    JAMA 291:820-1; author reply 821. 2004
  22. ncbi request reprint Neonatal screening for medium--chain acyl-CoA dehydrogenase deficiency
    Darren J Fowler
    Lancet 359:628. 2002