Sarah Spence MD

Sarah Jane Spence, M.D., Ph.D.

Assistant in Neurology; Co-Director, Autism Spectrum Center

Assistant Professor of Neurology, Harvard Medical School

    Contact: 617-355-2069

  • Fax: 617-730-0288

"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."

Medical Services

Specialties

  • Autism
  • Child Neurology

Departments

  • Neurology

Languages

  • English

Programs

  • Autism Spectrum Center
To schedule an appointment: Call 617-355-2069 or Request an Appointment
Sarah Spence MD

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.

Experience and Education

Education

Undergraduate - Psychobiology, cum laude

Harvard Radcliffe College, 1984

Boston, MA

Graduate School - Ph.D. in 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

Residency - Pediatrics

UCLA Department of Pediatrics, 1997

Los Angeles, CA

Residency - Neurology

UCLA Department of Neurology, 1998

Los Angeles, CA

Pediatric Neurology Fellowship

UCLA Department of Physcology, 1991

Los Angeles, CA

Certifications

  • Psychiatry, Neurology with special qualification in child neurology

Professional History

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.

Publications

Publications powered by Harvard Catalyst Profiles
  1. C Yuen RK, Merico D, Bookman M, L Howe J, Thiruvahindrapuram B, Patel RV, Whitney J, Deflaux N, Bingham J, Wang Z, Pellecchia G, Buchanan JA, Walker S, Marshall CR, Uddin M, Zarrei M, Deneault E, D'Abate L, Chan AJ, Koyanagi S, Paton T, Pereira SL, Hoang N, Engchuan W, Higginbotham EJ, Ho K, Lamoureux S, Li W, MacDonald JR, Nalpathamkalam T, Sung WW, Tsoi FJ, Wei J, Xu L, Tasse AM, Kirby E, Van Etten W, Twigger S, Roberts W, Drmic I, Jilderda S, Modi BM, Kellam B, Szego M, Cytrynbaum C, Weksberg R, Zwaigenbaum L, Woodbury-Smith M, Brian J, Senman L, Iaboni A, Doyle-Thomas K, Thompson A, Chrysler C, Leef J, Savion-Lemieux T, Smith IM, Liu X, Nicolson R, Seifer V, Fedele A, Cook EH, Dager S, Estes A, Gallagher L, Malow BA, Parr JR, Spence SJ, Vorstman J, Frey BJ, Robinson JT, Strug LJ, Fernandez BA, Elsabbagh M, Carter MT, Hallmayer J, Knoppers BM, Anagnostou E, Szatmari P, Ring RH, Glazer D, Pletcher MT, Scherer SW. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. Nat Neurosci. 2017 Apr; 20(4):602-611.
  2. Kylor C, Napier T, Rephann A, Spence SJ. Implementation of the Safety Huddle. Crit Care Nurse. 2016 Dec; 36(6):80-82.
  3. Steinman KJ, Spence SJ, Ramocki MB, Proud MB, Kessler SK, Marco EJ, Green Snyder L, D'Angelo D, Chen Q, Chung WK, Sherr EH. 16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort. Am J Med Genet A. 2016 Nov; 170(11):2943-2955.
  4. Shoffner J, Trommer B, Thurm A, Farmer C, Langley WA, Soskey L, Rodriguez AN, D'Souza P, Spence SJ, Hyland K, Swedo SE. CSF concentrations of 5-methyltetrahydrofolate in a cohort of young children with autism. Neurology. 2016 Jun 14; 86(24):2258-63.
  5. D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F, Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE, Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C, Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ, Steinman KJ, Tjernagel J, Van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. JAMA Psychiatry. 2016 Jan; 73(1):20-30.
  6. Bernier R, Steinman KJ, Reilly B, Wallace AS, Sherr EH, Pojman N, Mefford HC, Gerdts J, Earl R, Hanson E, Goin-Kochel RP, Berry L, Kanne S, Snyder LG, Spence S, Ramocki MB, Evans DW, Spiro JE, Martin CL, Ledbetter DH, Chung WK. Clinical phenotype of the recurrent 1q21.1 copy-number variant. Genet Med. 2016 Apr; 18(4):341-9.
  7. El Achkar CM, Spence SJ. Clinical characteristics of children and young adults with co-occurring autism spectrum disorder and epilepsy. Epilepsy Behav. 2015 Jun; 47:183-90.
  8. Conant KD, Finucane B, Cleary N, Martin A, Muss C, Delany M, Murphy EK, Rabe O, Luchsinger K, Spence SJ, Schanen C, Devinsky O, Cook EH, LaSalle J, Reiter LT, Thibert RL. A survey of seizures and current treatments in 15q duplication syndrome. Epilepsia. 2014 Mar; 55(3):396-402.
  9. Viscidi EW, Johnson AL, Spence SJ, Buka SL, Morrow EM, Triche EW. The association between epilepsy and autism symptoms and maladaptive behaviors in children with autism spectrum disorder. Autism. 2014 Nov; 18(8):996-1006.
  10. Viscidi EW, Triche EW, Pescosolido MF, McLean RL, Joseph RM, Spence SJ, Morrow EM. Clinical characteristics of children with autism spectrum disorder and co-occurring epilepsy. PLoS One. 2013; 8(7):e67797.
    11. Show all
  11. Raznahan A, Wallace GL, Antezana L, Greenstein D, Lenroot R, Thurm A, Gozzi M, Spence S, Martin A, Swedo SE, Giedd JN. Compared to what? Early brain overgrowth in autism and the perils of population norms. Biol Psychiatry. 2013 Oct 15; 74(8):563-75.
  12. Raznahan A, Lenroot R, Thurm A, Gozzi M, Hanley A, Spence SJ, Swedo SE, Giedd JN. Mapping cortical anatomy in preschool aged children with autism using surface-based morphometry. Neuroimage Clin. 2012; 2:111-9.
  13. Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Männik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet. 2012 Oct; 49(10):660-8.
  14. Kohane IS, McMurry A, Weber G, MacFadden D, Rappaport L, Kunkel L, Bickel J, Wattanasin N, Spence S, Murphy S, Churchill S. The co-morbidity burden of children and young adults with autism spectrum disorders. PLoS One. 2012; 7(4):e33224.
  15. Swedo SE, Baird G, Cook EH, Happé FG, Harris JC, Kaufmann WE, King BH, Lord CE, Piven J, Rogers SJ, Spence SJ, Wetherby A, Wright HH. Commentary from the DSM-5 Workgroup on Neurodevelopmental Disorders. J Am Acad Child Adolesc Psychiatry. 2012 Apr; 51(4):347-9.
  16. Maski KP, Jeste SS, Spence SJ. Common neurological co-morbidities in autism spectrum disorders. Curr Opin Pediatr. 2011 Dec; 23(6):609-15.
  17. Spence SJ, Tasker RC, Pomeroy SL. Recent advances in autism spectrum disorders. Curr Opin Pediatr. 2011 Dec; 23(6):607-8.
  18. Spence S. Autism. Editorial. Autism. 2011 Sep; 15(5):523-5.
  19. Spence SJ, Thurm A. Testing autism interventions: trials and tribulations. Lancet. 2010 Jun 19; 375(9732):2124-5.
  20. Spence SJ, Schneider MT. The role of epilepsy and epileptiform EEGs in autism spectrum disorders. Pediatr Res. 2009 Jun; 65(6):599-606.
  21. Zecavati N, Spence SJ. Neurometabolic disorders and dysfunction in autism spectrum disorders. Curr Neurol Neurosci Rep. 2009 Mar; 9(2):129-36.
  22. Nishimura Y, Martin CL, Vazquez-Lopez A, Spence SJ, Alvarez-Retuerto AI, Sigman M, Steindler C, Pellegrini S, Schanen NC, Warren ST, Geschwind DH. 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.
  23. Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimäki T, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC, Ye K, Wigler M. Strong association of de novo copy number mutations with autism. Science. 2007 Apr 20; 316(5823):445-9.
  24. Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, Feuk L, Qian C, Bryson SE, Jones MB, Marshall CR, Scherer SW, Vieland VJ, Bartlett C, Mangin LV, Goedken R, Segre A, Pericak-Vance MA, Cuccaro ML, Gilbert JR, Wright HH, Abramson RK, Betancur C, Bourgeron T, Gillberg C, Leboyer M, Buxbaum JD, Davis KL, Hollander E, Silverman JM, Hallmayer J, Lotspeich L, Sutcliffe JS, Haines JL, Folstein SE, Piven J, Wassink TH, Sheffield V, Geschwind DH, Bucan M, Brown WT, Cantor RM, Constantino JN, Gilliam TC, Herbert M, Lajonchere C, Ledbetter DH, Lese-Martin C, Miller J, Nelson S, Samango-Sprouse CA, Spence S, State M, Tanzi RE, Coon H, Dawson G, Devlin B, Estes A, Flodman P, Klei L, McMahon WM, Minshew N, Munson J, Korvatska E, Rodier PM, Schellenberg GD, Smith M, Spence MA, Stodgell C, Tepper PG, Wijsman EM, Yu CE, Rogé B, Mantoulan C, Wittemeyer K, Poustka A, Felder B, Klauck SM, Schuster C, Poustka F, Bölte S, Feineis-Matthews S, Herbrecht E, Schmötzer G, Tsiantis J, Papanikolaou K, Maestrini E, Bacchelli E, Blasi F, Carone S, Toma C, Van Engeland H, de Jonge M, Kemner C, Koop F, Koop F, Langemeijer M, Langemeijer M, Hijmans C, Hijimans C, Staal WG, Baird G, Bolton PF, Rutter ML, Weisblatt E, Green J, Aldred C, Wilkinson JA, Pickles A, Le Couteur A, Berney T, McConachie H, Bailey AJ, Francis K, Honeyman G, Hutchinson A, Parr JR, Wallace S, Monaco AP, Barnby G, Kobayashi K, Lamb JA, Sousa I, Sykes N, Cook EH, Guter SJ, Leventhal BL, Salt J, Lord C, Corsello C, Hus V, Weeks DE, Volkmar F, Tauber M, Fombonne E, Shih A, Meyer KJ. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet. 2007 Mar; 39(3):319-28.
  25. Spence SJ, Cantor RM, Chung L, Kim S, Geschwind DH, Alarcón M. Stratification based on language-related endophenotypes in autism: attempt to replicate reported linkage. Am J Med Genet B Neuropsychiatr Genet. 2006 Sep 05; 141B(6):591-8.
  26. Sigman M, Spence SJ, Wang AT. Autism from developmental and neuropsychological perspectives. Annu Rev Clin Psychol. 2006; 2:327-55.
  27. Connors SL, Crowell DE, Eberhart CG, Copeland J, Newschaffer CJ, Spence SJ, Zimmerman AW. beta2-adrenergic receptor activation and genetic polymorphisms in autism: data from dizygotic twins. J Child Neurol. 2005 Nov; 20(11):876-84.
  28. Spence SJ, Sharifi P, Wiznitzer M. Autism spectrum disorder: screening, diagnosis, and medical evaluation. Semin Pediatr Neurol. 2004 Sep; 11(3):186-95.
  29. Spence SJ. The genetics of autism. Semin Pediatr Neurol. 2004 Sep; 11(3):196-204.
  30. Conciatori M, Stodgell CJ, Hyman SL, O'Bara M, Militerni R, Bravaccio C, Trillo S, Montecchi F, Schneider C, Melmed R, Elia M, Crawford L, Spence SJ, Muscarella L, Guarnieri V, D'Agruma L, Quattrone A, Zelante L, Rabinowitz D, Pascucci T, Puglisi-Allegra S, Reichelt KL, Rodier PM, Persico AM. Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism. Biol Psychiatry. 2004 Feb 15; 55(4):413-9.
  31. Yonan AL, Alarcón M, Cheng R, Magnusson PK, Spence SJ, Palmer AA, Grunn A, Juo SH, Terwilliger JD, Liu J, Cantor RM, Geschwind DH, Gilliam TC. A genomewide screen of 345 families for autism-susceptibility loci. Am J Hum Genet. 2003 Oct; 73(4):886-97.
  32. Geschwind DH, Sowinski J, Lord C, Iversen P, Shestack J, Jones P, Ducat L, Spence SJ. 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.
  33. Spence SJ, Sankar R. Visual field defects and other ophthalmological disturbances associated with vigabatrin. Drug Saf. 2001; 24(5):385-404.
To schedule an appointment: Call 617-355-2069 or Request an Appointment

Locations

  • Boston

    Department of Neurology300 Longwood AvenueFegan, 11th FloorBoston, Massachusetts 02115Contact: 617-355-6388

    Get Directions

  • Waltham

    Department of Neurology9 Hope AvenueWaltham, Massachusetts 02453Contact: 781-216-2596Fax: 781-216-2517Appointments:: 617-355-6388

    Get Directions
“
Boston Children’s is so much more than a hospital—it’s a community of researchers, clinicians, administrators, support staff, innovators, teachers, patients and families, all working together to make the impossible possible. ”
- Sandra L. Fenwick, President and CEO

Boston Children's Hospital
300 Longwood Avenue, Boston, MA 02115
For Patients: 617-355-6000
For Referring Providers: 844-BCH-PEDS | 844-224-7337

Close
close