Sarah Spence

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.

Specialties

• Autism Spectrum Disorders

Departments

• Department of Neurology

EDUCATION

Undergraduate Degree

Psychobiology
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

Residency

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

Residency

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

Fellowship

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

PUBLICATIONS

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