A5103067587- Autism Spectrum Disorder Research
- Family and Disability Support Research
- Genetics and Neurodevelopmental Disorders
- Child Nutrition and Feeding Issues
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Child Development and Digital Technology
- Vaccine Coverage and Hesitancy
- Virology and Viral Diseases
- Child and Adolescent Psychosocial and Emotional Development
- Attention Deficit Hyperactivity Disorder
- Behavioral and Psychological Studies
- Ethics in Clinical Research
- Genomics and Rare Diseases
- Prenatal Screening and Diagnostics
- Metabolism and Genetic Disorders
- Cancer-related molecular mechanisms research
- RNA modifications and cancer
- RNA regulation and disease
- Evolutionary Psychology and Human Behavior
- COVID-19 and healthcare impacts
- Neuroendocrine regulation and behavior
- Advanced biosensing and bioanalysis techniques
- Conferences and Exhibitions Management
- Tactile and Sensory Interactions
Texas Children's Hospital
2014-2024
Baylor College of Medicine
2015-2024
Boston Children's Hospital
2014-2023
Center for Autism and Related Disorders
2022
Cardiff University
2021
Baylor Genetics
2009
Virginia Commonwealth University
2007
<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...
<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...
Abstract Autism spectrum disorder (ASD) is a genetically heterogeneous condition, caused by combination of rare de novo and inherited variants as well common in at least several hundred genes. However, significantly larger sample sizes are needed to identify the complete set genetic risk factors. We conducted pilot study for SPARK (SPARKForAutism.org) 457 families with ASD, all consented online. Whole exome sequencing (WES) genotyping data were generated each family using DNA from saliva....
Parents of children with pervasive developmental disorders (n = 494) were surveyed to determine their level satisfaction the process getting an autism spectrum diagnosis. Participants in this web-based study (mean age 37.8 years) came from five countries and reported on average 8.3 years (range 1.7 22.1). All had a diagnosis either (59.9%), Asperger syndrome (23.5%), or PDD-NOS (16.6%). Higher levels parental education income associated earlier greater diagnostic process. more satisfied when...
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.
We recently reported a deletion of exon 2 the trimethyllysine hydroxylase epsilon ( TMLHE ) gene in proband with autism. maps to X chromosome and encodes first enzyme carnitine biosynthesis, 6- N -trimethyllysine dioxygenase. Deletion causes deficiency, resulting increased substrate concentration (6- -trimethyllysine) decreased product levels (3-hydroxy-6- γ-butyrobetaine) plasma urine. deficiency is common control males (24 8,787 or 1 366) was not significantly frequency probands from...
Children with autism spectrum disorders (ASD) often participate in many treatments, requiring parents’ dedication of time, money, and energy, necessitating dealing multiple service providers. To learn about experience seeking using treatments for their child ASD, the authors asked them, “What do you like/dislike treatment(s) you’re currently using?” In this web-based, qualitative study, participants consisted 486 parents (92% mothers) children (80% boys; children’s M age = 8.3 years) ( n...
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.
OBJECTIVES:To examine screening practices for autism spectrum disorder (ASD), subsequent referrals, and diagnostic outcomes within a large network of primary pediatric care practices.
Significance Descriptions of impaired coherent motion perception in autism spectrum disorder (ASD) underlie theories that individuals with ASD have difficulty integrating local “parts” into a global percept. This notion maintains widespread influence and motivates recent defective multisensory integration ASD. However, heightened sensitivity to sensory noise, used manipulate task predominant visual stimuli, may provide an alternative explanation for performance. Here we indeed found...
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...
Parents of children with autism spectrum disorder (ASD) must identify, select, and even implement treatments. Child age, cognitive functioning, ASD symptoms, family income, parent education, cultural background, all may influence treatment selection. Parents’ perceptions about also contribute. We explored whether parents’ ASD, along family- child-specific characteristics, predicted use various categories. Sixty-eight families from the Simons Simplex Collection completed Revised Illness...
Copy number variation at 16p11.2 is associated with diverse phenotypes but little known about the early developmental trajectories and emergence of phenotype. This longitudinal study followed 56 children BP4‐BP5 deletion or duplication between ages 6 months 8 years diagnostic characterization dimensional assessment across cognitive, adaptive, behavioral domains. Linear mixed modeling revealed distinct deletions showing VIQ gains declines in motor social abilities while duplications showed...
Although norm-referenced scores are essential to the identification of disability, they possess several features which affect their sensitivity change. Norm-referenced often decrease over time among people with neurodevelopmental disorders who exhibit slower-than-average increases in ability. Further, reliability is lower at tails distribution, resulting floor effects and increased measurement error for disorders. In contrast, person ability generated during process constructing a...