"Working with children and their families to really explain things and help them through what can sometimes be a difficult journey is an incredibly rewarding privilege."



Undergraduate Degree

  • Harvard Radcliffe College , 1984 , Boston , MA

Graduate Degree

PhD, Behavioral Neuroscience
  • University of California at Los Angeles, Department of Psychology , 1992 , Los Angeles , CA

Medical School

  • University of California at San Francisco , 1995 , San Francisco , CA


  • University of California at Los Angeles , 1997 , Los Angeles , CA


  • University of California at Los Angeles , 1998 , Los Angeles , CA


Pediatric Neurology
  • Unviersity of California at Los Angeles , Los Angeles , CA

Philosophy of Care

With a degree in cognitive neuroscience I have always been interested in the connection between the brain and behavior. I just did not know early on that it would take the form of young brains and their behavior.  I fell in love with pediatrics as my first rotation in medical school and never looked back.  There is no better job than to be able to come to work and “play with your patients!”  In neurology/neuroscience we do not always get to fix things or solve the puzzles we are faced with.  But working with children and their families to really explain things and help them through what can sometimes be a difficult journey is an incredibly rewarding privilege.

My personal life is dedicated to my own family.  When I get to take some time off I love to sleep more, read books, spend time with friends … and it is best if all those things are done while on our sailboat.


Dr Spence’s clinical and research activities have been focused on children with Autism Spectrum Disorders (ASD) and related disorders.  She was recruited to BCH in 2010 and has led a multi-disciplinary effort to form the Autism Spectrum Center at BCH, of which she is co-director.

As a child neurologist with doctoral training in cognitive neuroscience, her research interests have always been at the interface between brain and behavior.  She credits her ASD expertise to the experience of doing home visits for the Autism Genetic Resource Exchange (AGRE), a large autism genebank.  She spent 6 years as the medical director of the UCLA Autism Evaluation Clinic and then 4 years at the National Institute of Mental Health (NIMH) doing clinical research.  At Boston Children’s she is combining her interests and expertise in clinical care, clinical research, and teaching with a primary focus on improving the lives of children with autism spectrum disorders and their families.   

She has lectured extensively nationally and internationally on ASD.  She has also worked on the DSM-5 Neurodevelopmental Disabilities Workgroup and worked with various foundations and professional groups including Cure Autism Now, Autism Speaks, AGRE, the Autism Treatment Network, the Dup 15q Alliance, the Tuberous Sclerosis Alliance.


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


Publications powered by Harvard Catalyst Profiles

  1. Predicting Autism Spectrum Disorder in Very Preterm Infants. Pediatrics. 2020 10; 146(4). View abstract
  2. Evaluation and Management of the Child With Autism Spectrum Disorder. Continuum (Minneap Minn). 2018 02; 24(1, Child Neurology):248-275. View abstract
  3. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. Nat Neurosci. 2017 Apr; 20(4):602-611. View abstract
  4. Implementation of the Safety Huddle. Crit Care Nurse. 2016 Dec; 36(6):80-82. View abstract
  5. 16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort. . 2016 11; 170(11):2943-2955. View abstract
  6. CSF concentrations of 5-methyltetrahydrofolate in a cohort of young children with autism. Neurology. 2016 06 14; 86(24):2258-63. View abstract
  7. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. JAMA Psychiatry. 2016 Jan; 73(1):20-30. View abstract
  8. Clinical phenotype of the recurrent 1q21.1 copy-number variant. Genet Med. 2016 Apr; 18(4):341-9. View abstract
  9. Clinical characteristics of children and young adults with co-occurring autism spectrum disorder and epilepsy. Epilepsy Behav. 2015 Jun; 47:183-90. View abstract
  10. A survey of seizures and current treatments in 15q duplication syndrome. Epilepsia. 2014 Mar; 55(3):396-402. View abstract
  11. The association between epilepsy and autism symptoms and maladaptive behaviors in children with autism spectrum disorder. Autism. 2014 Nov; 18(8):996-1006. View abstract
  12. Clinical characteristics of children with autism spectrum disorder and co-occurring epilepsy. PLoS One. 2013; 8(7):e67797. View abstract
  13. Compared to what? Early brain overgrowth in autism and the perils of population norms. Biol Psychiatry. 2013 Oct 15; 74(8):563-75. View abstract
  14. Mapping cortical anatomy in preschool aged children with autism using surface-based morphometry. Neuroimage Clin. 2012; 2:111-9. View abstract
  15. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet. 2012 Oct; 49(10):660-8. View abstract
  16. The co-morbidity burden of children and young adults with autism spectrum disorders. PLoS One. 2012; 7(4):e33224. View abstract
  17. Commentary from the DSM-5 Workgroup on Neurodevelopmental Disorders. J Am Acad Child Adolesc Psychiatry. 2012 Apr; 51(4):347-9. View abstract
  18. Common neurological co-morbidities in autism spectrum disorders. Curr Opin Pediatr. 2011 Dec; 23(6):609-15. View abstract
  19. Recent advances in autism spectrum disorders. Curr Opin Pediatr. 2011 Dec; 23(6):607-8. View abstract
  20. Autism. Editorial. Autism. 2011 Sep; 15(5):523-5. View abstract
  21. Testing autism interventions: trials and tribulations. Lancet. 2010 Jun 19; 375(9732):2124-5. View abstract
  22. The role of epilepsy and epileptiform EEGs in autism spectrum disorders. Pediatr Res. 2009 Jun; 65(6):599-606. View abstract
  23. Neurometabolic disorders and dysfunction in autism spectrum disorders. Curr Neurol Neurosci Rep. 2009 Mar; 9(2):129-36. View abstract
  24. Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways. Hum Mol Genet. 2007 Jul 15; 16(14):1682-98. View abstract
  25. Strong association of de novo copy number mutations with autism. Science. 2007 Apr 20; 316(5823):445-9. View abstract
  26. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet. 2007 Mar; 39(3):319-28. View abstract
  27. Stratification based on language-related endophenotypes in autism: attempt to replicate reported linkage. . 2006 Sep 05; 141B(6):591-8. View abstract
  28. Autism from developmental and neuropsychological perspectives. Annu Rev Clin Psychol. 2006; 2:327-55. View abstract
  29. beta2-adrenergic receptor activation and genetic polymorphisms in autism: data from dizygotic twins. J Child Neurol. 2005 Nov; 20(11):876-84. View abstract
  30. Autism spectrum disorder: screening, diagnosis, and medical evaluation. Semin Pediatr Neurol. 2004 Sep; 11(3):186-95. View abstract
  31. The genetics of autism. Semin Pediatr Neurol. 2004 Sep; 11(3):196-204. View abstract
  32. Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism. Biol Psychiatry. 2004 Feb 15; 55(4):413-9. View abstract
  33. A genomewide screen of 345 families for autism-susceptibility loci. Am J Hum Genet. 2003 Oct; 73(4):886-97. View abstract
  34. The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions. Am J Hum Genet. 2001 Aug; 69(2):463-6. View abstract
  35. Visual field defects and other ophthalmological disturbances associated with vigabatrin. Drug Saf. 2001; 24(5):385-404. View abstract