The broad goal of my research is to understand the causes of these brain injuries and to detect them at their earliest onset in order to develop and test neuroprotective therapies that prevent or minimize brain injury.

EDUCATION

Medical School

  • McGill University Faculty of Medicine , 1991 , Montreal , Canada

Internship

  • Boston City Hospital , 1992 , Boston , MA

Residency

Pediatrics
  • Boston City Hospital , 1994 , Boston , MA

Fellowship

Neurology
  • Boston Children's Hospital , 1997 , Boston , MA

Fellowship

Neonatal Neurology
  • Boston Children's Hospital , 1998 , Boston , MA

PROFESSIONAL HISTORY

I am a pediatric neurologist whose area of clinical expertise and research is in Fetal and Neonatal Neurology with a focus on the etiology, pathogenesis, outcome and prevention of early acquired brain injury. I direct the Fetal-Neonatal Neurology Program that provides specialized care to fetuses, newborns and children with neurologic disorders that begin in utero or in the neonatal period. This program, with its associated clinical services, provides specialized training for neurology, neonatology and pediatric fellows and residents.  My research and writing are focused on early acquired brain injury, particularly hypoxic-ischemic brain injury, involving a lack of oxygen and blood flow to the brain; the treatment of seizures in term newborns; and periventricular leukomalacia (injury to the white matter of the brain), intraventricular hemorrhage (bleeding into the ventricles of the brain) and hydrocephalus in preterm newborns. I am the PI for a randomized, double-blind, controlled trial of bumetanide for the treatment of neonatal seizures, funded by an R01 from NINDS (NS066929), which is the first to study a novel drug (bumetanide) with an anticonvulsant mechanism specific to the newborn brain.  The broad goal of my research is to understand the causes of these brain injuries and to detect them at their earliest onset in order to develop and test neuroprotective therapies that prevent or minimize brain injury.

CERTIFICATIONS

  • American Board of Psychiatry and Neurology, Child and Adolescent Neurology

PUBLICATIONS

Publications powered by Harvard Catalyst Profiles

  1. A Pilot Randomized, Controlled, Double-Blind Trial of Bumetanide to Treat Neonatal Seizures. Ann Neurol. 2021 02; 89(2):327-340. View abstract
  2. Fetal magnetic resonance imaging: supratentorial brain malformations. Pediatr Radiol. 2020 12; 50(13):1934-1947. View abstract
  3. Regional Brain Growth Trajectories in Fetuses with Congenital Heart Disease. Ann Neurol. 2021 01; 89(1):143-157. View abstract
  4. Predicting Autism Spectrum Disorder in Very Preterm Infants. Pediatrics. 2020 10; 146(4). View abstract
  5. Characterization of Death in Infants With Neonatal Seizures. Pediatr Neurol. 2020 12; 113:21-25. View abstract
  6. Parent experience of caring for neonates with seizures. Arch Dis Child Fetal Neonatal Ed. 2020 Nov; 105(6):634-639. View abstract
  7. Associations between Infant and Parent Characteristics and Measures of Family Well-Being in Neonates with Seizures: A Cohort Study. J Pediatr. 2020 06; 221:64-71.e4. View abstract
  8. Early exit from neonatal therapeutic hypothermia: A single institution experience using MRI to guide decision-making. J Neonatal Perinatal Med. 2020; 13(4):441-447. View abstract
  9. Neonatal seizures: Case definition & guidelines for data collection, analysis, and presentation of immunization safety data. Vaccine. 2019 12 10; 37(52):7596-7609. View abstract
  10. Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations. Eur J Med Genet. 2020 Apr; 63(4):103802. View abstract
  11. Abnormalities in cerebral hemodynamics and changes with surgical intervention in neonates with congenital heart disease. J Thorac Cardiovasc Surg. 2020 05; 159(5):2012-2021. View abstract
  12. Seizure Prediction Models in the Neonatal Intensive Care Unit. J Clin Neurophysiol. 2019 May; 36(3):186-194. View abstract
  13. Pharmacologic Prevention and Treatment of Neonatal Brain Injury. Clin Perinatol. 2019 06; 46(2):311-325. View abstract
  14. Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 03 25; 11(1):16. View abstract
  15. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 02 28; 11(1):12. View abstract
  16. Response to antiseizure medications in neonates with acute symptomatic seizures. Epilepsia. 2019 03; 60(3):e20-e24. View abstract
  17. Monitoring and management of brain hemodynamics and oxygenation. Handb Clin Neurol. 2019; 162:295-314. View abstract
  18. Recommendations for the design of therapeutic trials for neonatal seizures. Pediatr Res. 2019 06; 85(7):943-954. View abstract
  19. Advanced diffusion imaging for assessing normal white matter development in neonates and characterizing aberrant development in congenital heart disease. Neuroimage Clin. 2018; 19:360-373. View abstract
  20. Congenital muscular dystrophy-dystroglycanopathy, type A, featuring bilateral retinal dysplasia and vertical angle kappa. J AAPOS. 2018 06; 22(3):242-244.e1. View abstract
  21. Post-arrest therapeutic hypothermia in pediatric patients with congenital heart disease. Resuscitation. 2018 05; 126:83-89. View abstract
  22. Acute symptomatic seizures in term neonates: Etiologies and treatments. Semin Fetal Neonatal Med. 2018 06; 23(3):183-190. View abstract
  23. Probabilistic tractography-based thalamic parcellation in healthy newborns and newborns with congenital heart disease. J Magn Reson Imaging. 2018 06; 47(6):1626-1637. View abstract
  24. Imaging features and prognostic factors in fetal and postnatal torcular dural sinus malformations, part I: review of experience at Boston Children's Hospital. J Neurointerv Surg. 2018 May; 10(5):467-470. View abstract
  25. Imaging features and prognostic factors in fetal and postnatal torcular dural sinus malformations, part II: synthesis of the literature and patient management. J Neurointerv Surg. 2018 May; 10(5):471-475. View abstract
  26. Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female. JIMD Rep. 2018; 40:17-22. View abstract
  27. The use of phenobarbital and other anti-seizure drugs in newborns. Semin Fetal Neonatal Med. 2017 10; 22(5):321-327. View abstract
  28. Profile of neonatal epilepsies: Characteristics of a prospective US cohort. Neurology. 2017 Aug 29; 89(9):893-899. View abstract
  29. Seizures in Preterm Neonates: A Multicenter Observational Cohort Study. Pediatr Neurol. 2017 Jul; 72:19-24. View abstract
  30. Electroencephalographic discontinuity during sevoflurane anesthesia in infants and children. Paediatr Anaesth. 2017 Mar; 27(3):251-262. View abstract
  31. White Matter Volume Predicts Language Development in Congenital Heart Disease. J Pediatr. 2017 02; 181:42-48.e2. View abstract
  32. Treatment Duration After Acute Symptomatic Seizures in Neonates: A Multicenter Cohort Study. J Pediatr. 2017 02; 181:298-301.e1. View abstract
  33. Corrigendum to "GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease" [Mol. Genet. Metab. 111 (2014) 393-398]. Mol Genet Metab. 2016 11; 119(3):293. View abstract
  34. Fellowship Training in the Emerging Fields of Fetal-Neonatal Neurology and Neonatal Neurocritical Care. Pediatr Neurol. 2016 10; 63:39-44.e3. View abstract
  35. BRAT1 mutations present with a spectrum of clinical severity. . 2016 09; 170(9):2265-73. View abstract
  36. Contemporary Profile of Seizures in Neonates: A Prospective Cohort Study. J Pediatr. 2016 Jul; 174:98-103.e1. View abstract
  37. Perioperative cerebral hemodynamics and oxygen metabolism in neonates with single-ventricle physiology. Biomed Opt Express. 2015 Dec 01; 6(12):4749-67. View abstract
  38. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58. View abstract
  39. Cerebral blood flow velocity and neurodevelopmental outcome in infants undergoing surgery for congenital heart disease. Ann Thorac Surg. 2014 Jul; 98(1):125-32. View abstract
  40. GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease. Mol Genet Metab. 2014 03; 111(3):393-398. View abstract
  41. Cerebral oxygen metabolism in neonatal hypoxic ischemic encephalopathy during and after therapeutic hypothermia. J Cereb Blood Flow Metab. 2014 Jan; 34(1):87-94. View abstract
  42. Near-infrared spectroscopy versus magnetic resonance imaging to study brain perfusion in newborns with hypoxic-ischemic encephalopathy treated with hypothermia. Neuroimage. 2014 Jan 15; 85 Pt 1:287-93. View abstract
  43. Passive cooling during transport of asphyxiated term newborns. J Perinatol. 2013 Jun; 33(6):435-40. View abstract
  44. Good outcome with early empiric treatment of neural larva migrans due to Baylisascaris procyonis. Pediatrics. 2012 Mar; 129(3):e806-11. View abstract
  45. Brain perfusion in asphyxiated newborns treated with therapeutic hypothermia. AJNR Am J Neuroradiol. 2011 Dec; 32(11):2023-9. View abstract
  46. Sensitive isotope dilution liquid chromatography/tandem mass spectrometry method for quantitative analysis of bumetanide in serum and brain tissue. J Chromatogr B Analyt Technol Biomed Life Sci. 2011 Apr 15; 879(13-14):998-1002. View abstract
  47. Early versus late MRI in asphyxiated newborns treated with hypothermia. Arch Dis Child Fetal Neonatal Ed. 2011 Jan; 96(1):F36-44. View abstract
  48. Relationship of intraoperative cerebral oxygen saturation to neurodevelopmental outcome and brain magnetic resonance imaging at 1 year of age in infants undergoing biventricular repair. Circulation. 2010 Jul 20; 122(3):245-54. View abstract
  49. Neurodevelopmental outcome of fetuses referred for ventriculomegaly. Ultrasound Obstet Gynecol. 2010 Apr; 35(4):405-16. View abstract
  50. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell. 2010 Jan 08; 140(1):74-87. View abstract
  51. Elevated cerebral pressure passivity is associated with prematurity-related intracranial hemorrhage. Pediatrics. 2009 Jul; 124(1):302-9. View abstract
  52. Subtle hemorrhagic brain injury is associated with neurodevelopmental impairment in infants with repaired congenital heart disease. J Thorac Cardiovasc Surg. 2009 Aug; 138(2):374-81. View abstract
  53. Cerebral hemodynamic changes during intensive care of preterm infants. Pediatrics. 2008 Nov; 122(5):e1006-13. View abstract
  54. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet. 2009 Apr; 46(4):242-8. View abstract
  55. Positive screening for autism in ex-preterm infants: prevalence and risk factors. Pediatrics. 2008 Apr; 121(4):758-65. View abstract
  56. Randomized trial of hematocrit 25% versus 35% during hypothermic cardiopulmonary bypass in infant heart surgery. J Thorac Cardiovasc Surg. 2008 Feb; 135(2):347-54, 354.e1-4. View abstract
  57. Current definitions of hypotension do not predict abnormal cranial ultrasound findings in preterm infants. Pediatrics. 2007 Nov; 120(5):966-77. View abstract
  58. Neurodevelopmental outcome in survivors of periventricular hemorrhagic infarction. Pediatrics. 2007 Oct; 120(4):785-92. View abstract
  59. Does cerebellar injury in premature infants contribute to the high prevalence of long-term cognitive, learning, and behavioral disability in survivors? Pediatrics. 2007 Sep; 120(3):584-93. View abstract
  60. Fluctuating pressure-passivity is common in the cerebral circulation of sick premature infants. Pediatr Res. 2007 Apr; 61(4):467-73. View abstract
  61. Neonatal hypocalcemic seizures in siblings exposed to topiramate in utero. Pediatr Neurol. 2007 Apr; 36(4):274-6. View abstract
  62. Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum. Clin Dysmorphol. 2006 Oct; 15(4):217-20. View abstract
  63. Characterizing the shape of anatomical structures with Poisson's equation. IEEE Trans Med Imaging. 2006 Oct; 25(10):1249-57. View abstract
  64. Periventricular hemorrhagic infarction: risk factors and neonatal outcome. Pediatr Neurol. 2006 Aug; 35(2):85-92. View abstract
  65. Ultrasonographic features and severity scoring of periventricular hemorrhagic infarction in relation to risk factors and outcome. Pediatrics. 2006 Jun; 117(6):2111-8. View abstract
  66. The current etiologic profile and neurodevelopmental outcome of seizures in term newborn infants. Pediatrics. 2006 Apr; 117(4):1270-80. View abstract
  67. Measurement of cortical thickness in 3D brain MRI data: validation of the Laplacian method. J Neuroimaging. 2006 Apr; 16(2):146-53. View abstract
  68. Talairach-based parcellation of neonatal brain magnetic resonance imaging data: validation of a new approach. J Neuroimaging. 2005 Oct; 15(4):305-14. View abstract
  69. Video and CD-ROM as a training tool for performing neurologic examinations of 1-year-old children in a multicenter epidemiologic study. J Child Neurol. 2005 Oct; 20(10):829-31. View abstract
  70. Impaired trophic interactions between the cerebellum and the cerebrum among preterm infants. Pediatrics. 2005 Oct; 116(4):844-50. View abstract
  71. Development of visual acuity in children with cerebral visual impairment. Arch Ophthalmol. 2005 Sep; 123(9):1215-20. View abstract
  72. Late gestation cerebellar growth is rapid and impeded by premature birth. Pediatrics. 2005 Mar; 115(3):688-95. View abstract
  73. In vivo visualization of white matter fiber tracts of preterm- and term-infant brains with diffusion tensor magnetic resonance imaging. Invest Radiol. 2005 Feb; 40(2):110-5. View abstract
  74. Identification of pressure passive cerebral perfusion and its mediators after infant cardiac surgery. Pediatr Res. 2005 Jan; 57(1):35-41. View abstract
  75. Hemodilution elevates cerebral blood flow and oxygen metabolism during cardiopulmonary bypass in piglets. Ann Thorac Surg. 2004 May; 77(5):1656-63; discussion 1663. View abstract
  76. CSF removal in infantile posthemorrhagic hydrocephalus results in significant improvement in cerebral hemodynamics. Pediatr Res. 2004 May; 55(5):872-6. View abstract
  77. An elliptic PDE approach for shape characterization. Conf Proc IEEE Eng Med Biol Soc. 2004; 2004:1521-4. View abstract
  78. Peroneal neuropathy from ankle-foot orthoses. Pediatr Neurol. 2003 Jul; 29(1):72-4. View abstract
  79. Time course of changes in diffusion-weighted magnetic resonance imaging in a case of neonatal encephalopathy with defined onset and duration of hypoxic-ischemic insult. Pediatrics. 2001 Nov; 108(5):1211-4. View abstract
  80. Cerebral infarction in Menkes' disease. Pediatr Neurol. 2000 Nov; 23(5):425-8. View abstract
  81. Noninvasive detection of changes in cerebral blood flow by near-infrared spectroscopy in a piglet model of hydrocephalus. Pediatr Res. 2000 Oct; 48(4):445-9. View abstract
  82. New technologies in pediatric neurology. Near-infrared spectroscopy. Semin Pediatr Neurol. 1999 Jun; 6(2):101-10. View abstract
  83. Sonographic ventriculography: a new potential use for sonographic contrast agents in neonatal hydrocephalus. AJNR Am J Neuroradiol. 1998 Nov-Dec; 19(10):1931-4. View abstract
  84. Vestibular-contingent voluntary saccades based on cognitive estimates of remembered vestibular information. Adv Otorhinolaryngol. 1988; 41:71-5. View abstract