Sarah Spence
A5102723095- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Medieval Literature and History
- Medieval European Literature and History
- Genomic variations and chromosomal abnormalities
- Family and Disability Support Research
- Classical Antiquity Studies
- Historical and Literary Analyses
- Renaissance and Early Modern Studies
- Congenital heart defects research
- Child Nutrition and Feeding Issues
- Obsessive-Compulsive Spectrum Disorders
- Byzantine Studies and History
- Child Development and Digital Technology
- Historical, Literary, and Cultural Studies
- Genomics and Rare Diseases
- Attention Deficit Hyperactivity Disorder
- Medieval Iberian Studies
- Themes in Literature Analysis
- Prenatal Screening and Diagnostics
- Reformation and Early Modern Christianity
- Classical Philosophy and Thought
- Virology and Viral Diseases
- Renaissance Literature and Culture
- Metabolism and Genetic Disorders
Boston Children's Hospital
2012-2023
Harvard University
1985-2023
University of Washington
2007-2022
Simons Foundation
2022
Seattle Children's Hospital
2022
Hasbro Children's Hospital
2022
Somerset NHS Foundation Trust
2022
Somerset Partnership NHS Foundation Trust
2022
National Institute of Mental Health
2007-2016
National Institutes of Health
2007-2016
We tested the hypothesis that de novo copy number variation (CNV) is associated with autism spectrum disorders (ASDs). performed comparative genomic hybridization (CGH) on DNA of patients and unaffected subjects to detect variants not present in their respective parents. Candidate regions were validated by higher-resolution CGH, paternity testing, cytogenetics, fluorescence situ hybridization, microsatellite genotyping. Confirmed CNVs significantly (P = 0.0005). Such identified 12 out 118...
Objectives Use electronic health records Autism Spectrum Disorder (ASD) to assess the comorbidity burden of ASD in children and young adults. Study Design A retrospective prevalence study was performed using a distributed query system across three general hospitals one pediatric hospital. Over 14,000 individuals under age 35 with were characterized by their co-morbidities conversely, within these comorbidities measured. The younger (Age<18 years) older (Age 18–34 compared. Results 19.44%...
<h3>Background</h3> The recurrent ∼600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related neurodevelopmental disorders. <h3>Objective</h3> To define medical, neuropsychological, behavioural phenotypes in carriers this deletion. <h3>Methods</h3> We collected clinical data on 285 performed detailed evaluations 72 68 intrafamilial non-carrier controls. <h3>Results</h3> When compared to controls, full scale intelligence...
The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as decreased body mass index (BMI).To characterize effects of on cognitive, behavioral, medical, anthropometric traits to understand specificity these by systematically comparing results in carriers reciprocal deletion carriers, who are also at risk for ASD.This international cohort study 1006 participants compared 270 their 102...
To estimate the prevalence of epilepsy in children with Autism Spectrum Disorder (ASD) and to determine demographic clinical characteristics ASD a large patient population. Cross-sectional study using four samples for total 5,815 participants ASD. The was estimated from population-based sample. Children without were compared on characteristics. Multivariate logistic regression used examine association between epilepsy. average 2-17 years 12.5%; among aged 13 older, 26% had Epilepsy...
Autism is a heterogeneous condition that likely to result from the combined effects of multiple genetic factors interacting with environmental factors. Given its complexity, study autism associated Mendelian single gene disorders or known chromosomal etiologies provides an important perspective. We used microarray analysis compare mRNA expression profile in lymphoblastoid cells males due fragile X mutation (FMR1-FM), 15q11–q13 duplication (dup(15q)), and non-autistic controls. Gene profiles...
Chromosome 16p11.2 deletions and duplications are among the most frequent genetic etiologies of autism spectrum disorder (ASD) other neurodevelopmental disorders, but detailed descriptions their neurologic phenotypes have not yet been completed. We utilized standardized examination history methods to characterize a phenotype in 136 carriers deletion 110 duplication—the largest cohort date uniformly comprehensively characterized individuals with same 16p copy number variants (CNVs). The is by...
Seizures are common in individuals with duplications of chromosome 15q11.2-q13 (Dup15q). The goal this study was to examine the phenotypes and treatments seizures Dup15q a large population.A detailed electronic survey conducted through Alliance containing comprehensive questions regarding their Dup15q.There were 95 responses from families. For 83 idic(15), 63% reported have seizures, which 81% had multiple seizure types 42% infantile spasms. Other tonic-clonic, atonic, myoclonic, focal. Only...
Epilepsy is common in children with autism spectrum disorder (ASD) but little known about how seizures impact the phenotype. The association between epilepsy and symptoms associated maladaptive behaviors was examined 2,645 ASD, of whom 139 had epilepsy, from Simons Simplex Collection. Children ASD significantly more than without epilepsy. However, after adjusting for IQ, only hyperactivity remained increased (13% higher) group. Among co-occurring intellectual disability, irritability (20%...
Importance Genomic advances inform our understanding of epilepsy and can be translated to patients as precision diagnoses that influence clinical treatment, prognosis, counseling. Objective To delineate the genetic landscape pediatric utility for with epilepsy. Design, Setting, Participants This cohort study used phenotypic data from medical records treating clinicians at a hospital identify unexplained pediatric-onset Exome sequencing was performed 522 available biological parents, were...
Gestational and genetic factors can contribute to autism during infancy early childhood through their effects on fetal brain development. Previous twin studies have shown strong components for the development of autism, a disorder that multiple causes. We investigated prenatal overstimulation β 2 -adrenergic receptor in dizygotic twins who were exposed terbutaline, selective agonist used treat premature labor, as gestational factor. As possible mechanism, we studied two polymorphisms from...