A5006183690- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Family and Disability Support Research
- Neonatal and fetal brain pathology
- Mental Health and Psychiatry
- Genetic factors in colorectal cancer
- Genomics and Rare Diseases
- Cardiac Arrest and Resuscitation
- Fetal and Pediatric Neurological Disorders
- Language Development and Disorders
- Child Nutrition and Feeding Issues
- Oral microbiology and periodontitis research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Psychosomatic Disorders and Their Treatments
- Dental Health and Care Utilization
- Molecular Biology Techniques and Applications
- Congenital Ear and Nasal Anomalies
- Chromatin Remodeling and Cancer
- Child Development and Digital Technology
- Neurology and Historical Studies
- Academic and Historical Perspectives in Psychology
- Children's Physical and Motor Development
- Obsessive-Compulsive Spectrum Disorders
University of Washington
2012-2022
Seattle Children's Hospital
2012-2022
Boston Children's Hospital
2022
Simons Foundation
2022
Hasbro Children's Hospital
2022
Center for Autism and Related Disorders
2017
University of California, San Francisco
2009
Pediatrics and Genetics
2009
<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...
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...
OBJECTIVE. We have previously described patterns of neonatal brain injury that correlate with global cognitive and motor outcomes. now examine, in survivors encephalopathy (presumed secondary to hypoxia-ischemia) without functional deficits, whether the severity neuroanatomical involvement on MRI are associated domain-specific outcomes, verbal performance IQ, at 4 years age. METHODS. In this prospective study, MRIs 81 term infants were scored for degree 2 common patterns: watershed...
Abstract Expressive language impairment is one of the most frequently associated clinical features 16p11.2 copy number variations (CNV). However, our understanding profiles individuals with CNVs still limited. This study builds upon previous work in Simons Variation Individuals Project (VIP, now known as Searchlight), to characterize abilities deletion and duplication carriers using comprehensive assessments. Participants included 110 clinically ascertained children family members (i.e.,...
Despite the known benefits of early, specialized intervention for toddlers with Autism Spectrum Disorder (ASD), access to such remains limited. This pragmatic trial examines a novel healthcare delivery model (Screen-Refer-Treat [SRT]), which capitalizes upon existing health care and early (EI) infrastructure increase community capacity ASD detection treatment before age 3, when it is likely have greatest impact. comprises three components: (1) universal use Stage 1 screening by primary...
Key Clinical Message 16p11.2 deletions and duplications are commonly associated with autism spectrum disorder linked to mirrored phenotypes of physical characteristics higher penetrance for deletions. A male a rare triplication demonstrated similar phenotypic presentation deletion carriers neurocognitive adaptive skill deficits above‐average growth.
Deletions and duplications at 16p11.2 (BP4 to BP5; 29.5-30.1 Mb) have been associated with several neurodevelopmental neuropsychiatric disorders including autism spectrum disorder, intellectual disability (ID), schizophrenia. Seizures also reported in individuals these particular copy number variants, but the epilepsy phenotypes not well-delineated. We aimed systematically characterize seizure types, syndromes, severity a large cohort of deletions duplications.The ascertained participants...