Undergraduate Degree

  • Columbia University , 2006 , New York , NY

Medical School

  • Johns Hopkins University School of Medicine , 2010 , Baltimore , MD


  • Johns Hopkins Hospital , 2011 , Baltimore , MD


  • Johns Hopkins Hospital , 2012 , Baltimore , MD


  • Kennedy Kreieger Institute , 2016 , Baltimore , MD


  • Boston Children's Hospital , 2017 , Boston , MA

Philosophy of Care

As a pediatric neurologist and physician-scientist, I am passionate about improving the lives of children with neurogenetic and neurodevelopmental disorders. The advent of next-generation sequencing has led to an increasing number of children with a genetic diagnosis. It is my goal to provide comprehensive, neurologically-focused care for these individuals using the principles of precision medicine, while maintaining an active clinical research program to better understand mechanisms of disease and pathways to treatment.


I am a pediatric neurologist at Boston Children's Hospital specializing in neurogenetics.

My research involves studying different genetic causes of neurodevelopmental presentations -- such as autism, intellectual disability, cerebral palsy, and developmental regression -- using the multimodal approach of gene discovery, cognitive/behavioral phenotyping, and biomarker identification. This approach not only pinpoints possible mechanisms of disease but also delineates appropriate targets for therapy in future clinical trials aimed at improving neurodevelopmental outcomes in these disorders.

Most recently, my work has focused on determining neuroimaging correlates of cognition and behavior in Phelan-McDermid Syndrome and Tuberous Sclerosis Complex, two developmental synaptopathies associated with a high prevalence of autism and intellectual disability.

At Boston Children's Hospital, I provide care to children in a variety of neurodevelopmental and neurogenetics clinics. I take part in the Developmental Neurogenetics Program, which specializes in the diagnosis and management of genetic disorders associated with neurodevelopmental disabilities. Within this program, I help see patients in our multidisciplinary Phelan-McDermid Syndrome Clinic and PTEN Clinic, whose goals include optimizing long-term neurodevelopmental outcomes and coordinating specialty care across multiple disciplines. I also evaluate and treat patients in our Cerebral Palsy Diagnostic Program, which strives to diagnose genetic disorders presenting as cerebral palsy.

Dr. Srivastava serves as an expert for the Department of Neurology for Boston Children's Hospital Precision Medicine Service. For more information about the Precision Medicine Service please visit


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


Publications powered by Harvard Catalyst Profiles

  1. Intracranial venous malformation masquerading as a meningioma in PI3KCA-related overgrowth spectrum disorder. Am J Med Genet A. 2021 Dec 02. View abstract
  2. Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome. J Neurodev Disord. 2021 Nov 05; 13(1):53. View abstract
  3. A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder. NPJ Genom Med. 2021 Nov 04; 6(1):91. View abstract
  4. Neurodevelopmental profile of HIVEP2-related disorder. Dev Med Child Neurol. 2021 Oct 26. View abstract
  5. Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: Results from the developmental Synaptopathies consortium. Hum Mol Genet. 2021 Sep 24. View abstract
  6. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Mol Genet Genomic Med. 2021 10; 9(10):e1809. View abstract
  7. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. Brain. 2021 Aug 25. View abstract
  8. Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations. Am J Med Genet A. 2021 11; 185(11):3401-3410. View abstract
  9. Quantitative EEG improves prediction of Sturge-Weber syndrome in infants with port-wine birthmark. Clin Neurophysiol. 2021 10; 132(10):2440-2446. View abstract
  10. A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement. Clin Genet. 2022 01; 101(1):32-47. View abstract
  11. Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder. Brain Sci. 2021 Jul 14; 11(7). View abstract
  12. Severe speech impairment is a distinguishing feature of FOXP1-related disorder. Dev Med Child Neurol. 2021 12; 63(12):1417-1426. View abstract
  13. Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Hum Mutat. 2021 06; 42(6):762-776. View abstract
  14. Repetitive and Self-injurious Behaviors in Children with Cornelia de Lange Syndrome. J Autism Dev Disord. 2021 May; 51(5):1748-1758. View abstract
  15. Speech and language deficits are central to SETBP1 haploinsufficiency disorder. Eur J Hum Genet. 2021 08; 29(8):1216-1225. View abstract
  16. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. Genome Med. 2021 04 19; 13(1):63. View abstract
  17. Clinical delineation of SETBP1 haploinsufficiency disorder. Eur J Hum Genet. 2021 08; 29(8):1198-1205. View abstract
  18. Natural History of Thyroid Disease in Children with PTEN Hamartoma Tumor Syndrome. J Clin Endocrinol Metab. 2021 03 08; 106(3):e1121-e1130. View abstract
  19. Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations. J Autism Dev Disord. 2022 Jan; 52(1):414-422. View abstract
  20. Unusual Behaviors in a 7-year-old Boy. Pediatr Rev. 2021 01; 42(Suppl 1):S122-S125. View abstract
  21. The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction. Genet Med. 2021 02; 23(2):352-362. View abstract
  22. Polymicrogyria is Associated With Pathogenic Variants in PTEN. Ann Neurol. 2020 12; 88(6):1153-1164. View abstract
  23. Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features. Hum Mutat. 2020 07; 41(7):1238-1249. View abstract
  24. Expansion of the genetic landscape of ERLIN2-related disorders. Ann Clin Transl Neurol. 2020 04; 7(4):573-578. View abstract
  25. Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome. Pediatr Neurol. 2020 05; 106:24-31. View abstract
  26. Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Hum Mutat. 2020 01; 41(1):150-168. View abstract
  27. Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN. Transl Psychiatry. 2019 10 08; 9(1):253. View abstract
  28. Metabolic Strokes in Propionic Acidemia: Transient Hemiplegic Events Without Encephalopathy. Child Neurol Open. 2019; 6:2329048X19873242. View abstract
  29. EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome. Neuropediatrics. 2019 08; 50(4):257-261. View abstract
  30. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med. 2019 11; 21(11):2413-2421. View abstract
  31. Expansion of the clinical spectrum associated with AARS2-related disorders. . 2019 08; 179(8):1556-1564. View abstract
  32. Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders. Mol Genet Genomic Med. 2019 04; 7(4):e00569. View abstract
  33. Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome. Pediatr Neurol. 2019 01; 90:37-43. View abstract
  34. ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis. J Child Neurol. 2018 11; 33(13):825-831. View abstract
  35. Cerebellar volume as an imaging marker of development in infants with tuberous sclerosis complex. Neurology. 2018 04 24; 90(17):e1493-e1500. View abstract
  36. Monogenic disorders that mimic the phenotype of Rett syndrome. Neurogenetics. 2018 01; 19(1):41-47. View abstract
  37. Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. JAMA Neurol. 2017 10 01; 74(10):1228-1236. View abstract
  38. Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy. . 2017 Sep; 173(9):2505-2510. View abstract
  39. Autism spectrum disorder and epileptic encephalopathy: common causes, many questions. J Neurodev Disord. 2017; 9:23. View abstract
  40. Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant. J Child Neurol. 2017 08; 32(9):840-845. View abstract
  41. Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype. . 2017 Jun; 173(6):1495-1501. View abstract
  42. Behavioral and psychiatric manifestations in Cornelia de Lange syndrome. Curr Opin Psychiatry. 2017 Mar; 30(2):92-96. View abstract
  43. Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016. . 2017 May; 173(5):1172-1185. View abstract
  44. Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants. Pediatr Neurol Briefs. 2016 Dec; 30(12):45. View abstract
  45. Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. Clin Genet. 2017 May; 91(5):697-707. View abstract
  46. Update on Leukodystrophies: A Historical Perspective and Adapted Definition. Neuropediatrics. 2016 Dec; 47(6):349-354. View abstract
  47. BRAT1 mutations present with a spectrum of clinical severity. . 2016 09; 170(9):2265-73. View abstract
  48. Spectral electroencephalogram in liver cirrhosis with minimal hepatic encephalopathy before and after lactulose therapy. J Gastroenterol Hepatol. 2016 Jun; 31(6):1203-9. View abstract
  49. Loss-of-function variants in HIVEP2 are a cause of intellectual disability. Eur J Hum Genet. 2016 Apr; 24(4):556-61. View abstract
  50. Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium. Am J Med Genet A. 2015 Jun; 167(6):1179-92. View abstract
  51. ELP2 is a novel gene implicated in neurodevelopmental disabilities. . 2015 Jun; 167(6):1391-5. View abstract
  52. Genetic findings in obsessive-compulsive disorder connect to brain-derived neutrophic factor and mammalian target of rapamycin pathways: implications for drug development. Drug Dev Res. 2014 Sep; 75(6):372-83. View abstract
  53. Clinical whole exome sequencing in child neurology practice. Ann Neurol. 2014 Oct; 76(4):473-83. View abstract
  54. A novel variant in GABRB2 associated with intellectual disability and epilepsy. Am J Med Genet A. 2014 Nov; 164A(11):2914-21. View abstract
  55. Early neurodevelopmental screening in tuberous sclerosis complex: a potential window of opportunity. Pediatr Neurol. 2014 Sep; 51(3):398-402. View abstract
  56. Autism traits in children and adolescents with Cornelia de Lange syndrome. . 2014 Jun; 164A(6):1400-10. View abstract