Ellen Hanson
A5032537143- Autism Spectrum Disorder Research
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- Child Nutrition and Feeding Issues
- Tuberous Sclerosis Complex Research
- Attention Deficit Hyperactivity Disorder
- Family and Disability Support Research
- Metabolism and Genetic Disorders
- Child Development and Digital Technology
- Pregnancy and Medication Impact
- Pharmacological Effects and Toxicity Studies
- Epilepsy research and treatment
- Diet and metabolism studies
- Sleep and related disorders
- Molecular Biology Techniques and Applications
- Behavioral and Psychological Studies
- Metabolomics and Mass Spectrometry Studies
- Polyomavirus and related diseases
- RNA modifications and cancer
- PI3K/AKT/mTOR signaling in cancer
- Mental Health Research Topics
- Genomics and Rare Diseases
- Children's Physical and Motor Development
- Virology and Viral Diseases
Boston Children's Hospital
2016-2025
Harvard University
2014-2025
NeuroDevelopment Center
2021-2023
Cardiff University
2021
Amsterdam University Medical Centers
2020
University of Amsterdam
2020
Amsterdam Neuroscience
2020
Vrije Universiteit Amsterdam
2020
Emma Kinderziekenhuis
2020
Washington State University Spokane
2020
<h3>Context</h3>Best-estimate clinical diagnoses of specific autism spectrum disorders (autistic disorder, pervasive developmental disorder–not otherwise specified, and Asperger syndrome) have been used as the diagnostic gold standard, even when information from standardized instruments is available.<h3>Objective</h3>To determine whether relationships between behavioral phenotypes different vary across 12 university-based sites.<h3>Design</h3>Multisite observational study collecting...
Research has implicated mutations in the gene for neurexin-1 (NRXN1) a variety of conditions including autism, schizophrenia, and nicotine dependence. To our knowledge, there have been no published reports describing breadth phenotype associated with NRXN1. We present medical record review subjects deletions involving exonic sequences ascertained cases from 3,540 individuals referred clinically comparative genomic hybridization testing March 2007 to January 2009. Twelve were identified...
<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...
Autism Spectrum Disorders (ASD) is a spectrum of highly heritable neurodevelopmental disorders in which known mutations contribute to disease risk 20% cases. Here, we report the results largest blood transcriptome study date that aims identify differences 170 ASD cases and 115 age/sex-matched controls evaluate utility gene expression profiling as tool aid diagnosis ASD. The differentially expressed genes were enriched for neurotrophin signaling, long-term potentiation/depression, notch...
Deletion and duplication of 16p11.2 (BP4-BP5) have been associated with an increased risk intellectual disability psychiatric disorder. This is the first study to compare frequency a broad spectrum disorders in children deletion duplication. We aimed evaluate (1) nature prevalence psychopathology copy number variation (CNV) by comparing carriers family controls; (2) whether differ psychopathology. 217 carriers, 77 controls, 114 32 controls participated study. Measures included standardized...
Most disorders caused by copy number variants (CNVs) display significant clinical variability, often referred to as incomplete penetrance and variable expressivity. Genetic environmental sources of this variability are not well understood.
Background. Dental care is a significant unmet health need for children with autism spectrum disorders (ASD). Many ASD do not receive dental because of fear associated procedures; oftentimes they require general anesthesia regular procedures, placing them at risk complications. have strong preference visual stimuli, particularly electronic screen media. The use teaching materials fundamental principle in designing educational programs ASD. Purpose. To determine if an innovative strategy...
First, to examine in twin pregnancies the performance of first-trimester screening for fetal trisomies 21, 18 and 13 by cell-free (cf) DNA testing maternal blood and, second, compare singleton regarding distribution fraction cfDNA rate failure obtain a result.This was prospective study 438 10 698 undergoing at + 0 6 weeks' gestation. Chromosome-selective sequencing used pregnancies, an algorithm applied that relies on lower contributed two fetuses. Multivariate regression analysis determine...
Abstract Germline mutations in PTEN , the gene that encodes phosphatase and tensin homolog, have been identified up to 20% of children with autism spectrum disorder (ASD) macrocephaly are associated marked abnormalities white matter brain. This study sought characterize neurobehavioral phenotype -ASD. Comprehensive evaluations were conducted 36 participants (ages 3–21 years) -ASD compared two groups controls: non-syndromic ASD (Macro-ASD, n = 25) those without ( -no ASD, 23). Linear...
Certain copy number variants (CNVs) greatly increase the risk of autism. The authors conducted a genetics-first study to investigate whether heterogeneity in clinical presentation autism is underpinned by specific genotype-phenotype relationships.
During pregnancy in women with epilepsy, lower blood concentrations of antiseizure medications can have adverse clinical consequences.
While the prevalence of autism spectrum disorder (ASD) continues to increase and early diagnosis is emphasized, there limited information on outcomes for children diagnosed with ASD in childhood using contemporary diagnostic criteria.
To describe cognitive and behavioral features of patients with chromosome 16p11.2 deletion syndrome, a recently identified common genetic cause neurodevelopmental disability, especially autism spectrum disorder (ASD).Twenty-one were evaluated by medical record review. A subset 11 consented to detailed cognitive, behavioral, diagnostic assessment.Patients had varying levels intellectual variable adaptive skills, high incidence language delay. Attention issues not as frequent been reported in...
BackgroundDeletions and duplications of the 16p11.2 BP4-BP5 locus are prevalent copy number variations (CNVs), highly associated with autism spectrum disorder schizophrenia. Beyond language global cognition, neuropsychological assessments these two CNVs have not yet been reported.MethodsThis study investigates relationship between genomic copies at cognitive domains assessed in 62 deletion carriers, 44 duplication 71 intrafamilial control subjects.ResultsIQ is decreased but we demonstrate...
<h3>Importance</h3> The neurodevelopmental risks of fetal exposure are uncertain for many antiseizure medications (ASMs). <h3>Objective</h3> To compare children at 2 years age who were born to women with epilepsy (WWE) vs healthy and assess the association maximum ASM in third trimester subsequent cognitive abilities among WWE. <h3>Design, Setting, Participants</h3> Maternal Outcomes Neurodevelopmental Effects Antiepileptic Drugs (MONEAD) study is a prospective, observational, multicenter...
The mood-congruent judgment effect refers to the fact that when a mood and an idea are similar in pleasantness, will generally seem better some way. For example, people happy, they judge pleasant concepts as richer their associations, attributes more applicable, examples of categories typical. This mood-related component cognition is viewed longitudinally among normal students for first time here. authors demonstrate over time, changes covary with individuals.
Examine the role of sleep in consolidation declarative memory children with autism spectrum disorder (ASD).Case-control study.Home-based study and wake conditions.Twenty-two participants ASD 20 control between 9 16 y age.Participants were trained to criterion on a spatial task then given cued recall test. Retest occurred after period daytime (Wake) or night (Sleep) home-based polysomnography; Wake Sleep conditions counterbalanced. Children had poorer efficiency than controls, but other...