Siddharth Srivastava, MD
Neurologist, Department of Neurology
Assistant Professor of Neurology, Harvard Medical School
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Siddharth Srivastava, MD
Neurologist, Department of Neurology
Assistant Professor of Neurology, Harvard Medical School
Medical Services
Languages
English
Education
Undergraduate School
Columbia University
2006
New York
NY
Medical School
Johns Hopkins University School of Medicine
2010
Baltimore
MD
Internship
Johns Hopkins Hospital
2011
Baltimore
MD
Residency
Johns Hopkins Hospital
2012
Baltimore
MD
Residency
Kennedy Kreieger Institute
2016
Baltimore
MD
Fellowship
Boston Children's Hospital
2017
Boston
MA
Certifications
American Board of Pediatrics (General)
American Board of Psychiatry and Neurology (Child and Adolescent Neurology)
Professional History
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 bostonchildrens.org/precisionmed.
Approach to 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.
Publications
Guidelines for the Diagnosis and Clinical Management of Cavernous Malformations of the Brain and Spinal Cord: Consensus Recommendations Based on a Systematic Literature Review by the Alliance to Cure Cavernous Malformation Clinical Advisory Board Experts Panel. View Abstract
Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry. View Abstract
ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration. View Abstract
PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors. View Abstract
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management. View Abstract
Use of Computational Phenotypes for Predicting Genetic Subgroups of Cerebral Palsy. View Abstract
Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis. View Abstract
Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome. View Abstract
Further delineation of the SCAF4-associated neurodevelopmental disorder. View Abstract
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. View Abstract
Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration. View Abstract
Motor phenotypes associated with genetic neurodevelopmental disorders. View Abstract
Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay. View Abstract
Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia. View Abstract
Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders. View Abstract
Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome. View Abstract
A roadmap for SHANK3-related Epilepsy Research: recommendations from the 2023 strategic planning workshop. View Abstract
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder. View Abstract
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome. View Abstract
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes. View Abstract
SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study. View Abstract
Cerebral Palsy Phenotypes in Genetic Epilepsies. View Abstract
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature. View Abstract
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals. View Abstract
Abnormality of Early White Matter Development in Tuberous Sclerosis Complex and Autism Spectrum Disorder: Longitudinal Analysis of Diffusion Tensor Imaging Measures. View Abstract
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome. View Abstract
The Brain Gene Registry: a data snapshot. View Abstract
Exploring the neurological features of individuals with germline PTEN variants: A multicenter study. View Abstract
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features. View Abstract
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies. View Abstract
Characteristics and use of patient-reported outcomes of clinical trials for high-risk neurological medical devices that received FDA premarket approval from 2001 to 2022. View Abstract
Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders. View Abstract
Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link. View Abstract
Yield of genetic evaluation in non-syndromic pediatric moyamoya patients. View Abstract
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features. View Abstract
Clinical actionability of genetic findings in cerebral palsy. View Abstract
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology. View Abstract
Next generation sequencing aids diagnosis and management in a case of encephalocraniocutaneous lipomatosis. View Abstract
Updated consensus guidelines on the management of Phelan-McDermid syndrome. View Abstract
Nutritional therapy for persistent cognitive impairment after resolution of overt hepatic encephalopathy in patients with cirrhosis: A double-blind randomized controlled trial. View Abstract
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. View Abstract
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families. View Abstract
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder. View Abstract
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum. View Abstract
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta. View Abstract
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia. View Abstract
Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change. View Abstract
De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations. View Abstract
Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis. View Abstract
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome. View Abstract
A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome. View Abstract
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST. View Abstract
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. View Abstract
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. View Abstract
On Terms: What's in a Name? Intellectual Disability and "Condition," "Disorder," "Syndrome," "Disease," and "Disability". View Abstract
Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder. View Abstract
Underrepresentation of the term cerebral palsy in clinical genetics databases. View Abstract
Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers. View Abstract
Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium. View Abstract
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia. View Abstract
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome. View Abstract
Mendelian etiologies identified with whole exome sequencing in cerebral palsy. View Abstract
Intracranial venous malformation masquerading as a meningioma in PI3KCA-related overgrowth spectrum disorder. View Abstract
Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome. View Abstract
A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder. View Abstract
Neurodevelopmental profile of HIVEP2-related disorder. View Abstract
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. View Abstract
Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations. View Abstract
Psychiatric Characteristics Across Individuals With PTEN Mutations. View Abstract
Quantitative EEG improves prediction of Sturge-Weber syndrome in infants with port-wine birthmark. View Abstract
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement. View Abstract
Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder. View Abstract
Severe speech impairment is a distinguishing feature of FOXP1-related disorder. View Abstract
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. View Abstract
Repetitive and Self-injurious Behaviors in Children with Cornelia de Lange Syndrome. View Abstract
Speech and language deficits are central to SETBP1 haploinsufficiency disorder. View Abstract
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. View Abstract
Clinical delineation of SETBP1 haploinsufficiency disorder. View Abstract
Natural History of Thyroid Disease in Children with PTEN Hamartoma Tumor Syndrome. View Abstract
Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations. View Abstract
Unusual Behaviors in a 7-year-old Boy. View Abstract
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction. View Abstract
Polymicrogyria is Associated With Pathogenic Variants in PTEN. View Abstract
Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features. View Abstract
Expansion of the genetic landscape of ERLIN2-related disorders. View Abstract
Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome. View Abstract
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. View Abstract
Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN. View Abstract
Metabolic Strokes in Propionic Acidemia: Transient Hemiplegic Events Without Encephalopathy. View Abstract
EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome. View Abstract
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. View Abstract
Expansion of the clinical spectrum associated with AARS2-related disorders. View Abstract
Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders. View Abstract
Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome. View Abstract
ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis. View Abstract
Cerebellar volume as an imaging marker of development in infants with tuberous sclerosis complex. View Abstract
Monogenic disorders that mimic the phenotype of Rett syndrome. View Abstract
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. View Abstract
Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy. View Abstract
Autism spectrum disorder and epileptic encephalopathy: common causes, many questions. View Abstract
Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant. View Abstract
Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype. View Abstract
Behavioral and psychiatric manifestations in Cornelia de Lange syndrome. View Abstract
Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016. View Abstract
Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants. View Abstract
Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. View Abstract
Update on Leukodystrophies: A Historical Perspective and Adapted Definition. View Abstract
BRAT1 mutations present with a spectrum of clinical severity. View Abstract
Loss-of-function variants in HIVEP2 are a cause of intellectual disability. View Abstract
Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium. View Abstract
ELP2 is a novel gene implicated in neurodevelopmental disabilities. View Abstract
Genetic findings in obsessive-compulsive disorder connect to brain-derived neutrophic factor and mammalian target of rapamycin pathways: implications for drug development. View Abstract
Clinical whole exome sequencing in child neurology practice. View Abstract
A novel variant in GABRB2 associated with intellectual disability and epilepsy. View Abstract
Early neurodevelopmental screening in tuberous sclerosis complex: a potential window of opportunity. View Abstract
Autism traits in children and adolescents with Cornelia de Lange syndrome. View Abstract
Role of probiotics on gut permeability and endotoxemia in patients with acute pancreatitis: a double-blind randomized controlled trial. View Abstract
SETBP1 Haploinsufficiency Disorder View Abstract
Alexander Disease View Abstract
Locations