Exosomal MicroRNA Expression in Children With Autism Spectrum Disorder
Autism Spectrum DisorderThere is accumulating evidence that genetic expression plays a role in autism spectrum disorder, but the regulation of such genes is poorly understood. Small RNA particles, called microRNA (miRNA), have the ability to alter gene expression. These particles can be packaged and released from brain cells into the blood. Changes in miRNA may contribute to the patterns observed in autism spectrum disorder. The purpose of this study is to identify small RNA particles that regulate gene expression in autism spectrum disorder. The goal is to identify miRNA expression patterns which may improve our understanding and diagnosis of autism spectrum disorder.
Improving Autism Screening With Brain-Related miRNA
Autism Spectrum DisorderDevelopmental DelayThe goal of this project is to identify specific miRNAs that are increased or decreased in the saliva of children with developmental delay and are useful for screening toddlers for ASD. Such a screening tool would improve the specificity of diagnosis, streamline referrals to developmental specialists, and expedite the arrangement of early intervention services.
Early Detection of Autism Spectrum Disorder in Children
Autism Spectrum DisorderRationale: Autism Spectrum Disorder (ASD) is defined by deficits in social interaction and communication identified before the age of 3 years. Modified Checklist for Autism in Toddlers (M-CHAT) is a sensitive tool for ASD screening in children 16-23 months. A limited number of studies with a small number of patients have documented the developmental profile of children with ASD during infancy. Retrospective evaluations of videotaped behavior of children with ASD at 8 months and at 12 months identified early signs of ASD. A few studies found early signs of ASD during infancy in siblings of autistic children. Data documenting the age of onset and regression in ASD is controversial and limited. No large prospective studies documented the specific developmental profile of children with ASD starting at 6 months of age. Defining a specific autistic pattern on a developmental screening test could help identify infants at risk for ASD and improve their outcome through earlier diagnosis and treatment. More recently, genetic tests have been shown to aid in early identification of ASD which facilitates earlier intervention. Genetic testing among siblings of children with autism can aid in identification of autism or other related disorders in the siblings. PURPOSE: The purpose of this study is to learn about the early signs of autism in siblings of children with autism spectrum disorders. The investigators will enroll siblings of children with ASD. Those siblings who completed the Red Flags for Communication scale (RFC) at 6 months and/or at 12 months and failed the RFC at 12 months will be given a genetic screening test. It is the investigators goal to define a specific autistic pattern on a developmental screening test that could help identify sibling infants at risk for ASD and improve their outcome through earlier diagnosis and treatment and to evaluate if the results of the clinical screening test will correlate with the results of the genetic screening test.
Neurocognitive and Psychosocial Outcome of Youths With Autism Spectrum Disorder
Autism Spectrum DisorderAutism spectrum disorders (ASD) is a common childhood-onset, multi-factorial, highly heritable, clinically and genetically heterogeneous, neurodevelopmental disorder. Due to its high prevalence and severe lifelong impairment without effective prevention and treatment, there is a dearth of investigating its pathogenesis, longitudinal outcome, and biomarkers (endophenotypes). The ultimate goals of this 5-year project are to prospectively investigate the outcome and changes of psychosocial and neurocognitive functions of a cohort of probands with ASD at adolescence and young adulthood as the primary aim; and to test whether structural and functional brain connectivity can be effective endophenotypes of ASD using the unaffected sibling and follow-up designs as the secondary aims.
Brain Genomics Superstruct Project
Autism Spectrum DisordersThe purpose of this study is to explore the effects of genes and genetic variation on brain structure and function. Investigators at Harvard plan to explore the relationship between candidate genes that affect cognitive performance and brain structure/function. Since brain phenotypes reflect more proximal sequelae of gene activity, neuroimaging measures may show greater sensitivity than cognitive performance to measure gene effects.
Exome Sequencing in Autistic Spectrum Disorder
Autism Spectrum DisorderAutism1 moreBackground: Research into the genetic causes of autism spectrum disorder (ASD) involves studies of the DNA of children with autism. New DNA sequencing technology allows researchers to study specific genes in search of genetic changes that may cause or contribute to ASD. Individuals who donated DNA to the Autism Genetic Resource Exchange may benefit from further study of their DNA samples with more advanced DNA sequencing technology. The role of cholesterol in individuals with ASD is currently under investigation. Research has suggested that abnormal cholesterol levels in children with autism may be related to genetic mutations or changes in how cholesterol is regulated in the body. Objectives: - To study existing blood samples of children with autism spectrum disorders to evaluate the relationship between genetic traits and cholesterol function. Eligibility: - Children with ASD who donated blood samples to the Autism Genetic Resource Exchange. Design: Parents/guardians of minor children with ASD will provide consent for further research to be performed on existing DNA samples in the Autism Genetic Research Exchange databank. Information from this research may be provided to the consenting parents/guardians on a case by case basis, as directed by the researchers.
Evaluation of the Efficacy of Hippotherapy for Children With Developmental Disorders
Attention Deficit Hyperactivity DisorderAutism Spectrum DisorderHippotherapy is every program of horseback riding meant to treat people with physiological, mental, social, cognitive or behavioral problems. The purpose of the current research is to evaluate the efficacy of hippotherapy for children with developmental disabilities. The hypothesis is that children with developmental disabilities who are treated with hippotherapy will show better outcomes than children with the same problems who are not treated with hippotherapy.
Advanced Grandparental Age as a Risk Factor for Autism
Autistic DisorderPervasive Developmental Disorder3 moreThe Division of Medical Genetics at the University of Mississippi Medical Center is recruiting parents of children with a pervasive developmental disorder (including autism, autistic spectrum disorder, PDD-NOS, Asperger syndrome, childhood disintegrative disorder, and Rett syndrome) to participate in a study to help determine potential causes of the increasing prevalence of these disorders. The study is being conducted using an anonymous on-line survey available to parents through a secure link. The study consists of approximately 90 questions about the affected child, siblings, parents, and grandparents, which will take roughly 10-15 minutes to complete. Several families will also be invited to participate in a phone interview. Both the survey and the phone interview are conducted using a self-designated code to protect anonymity and patient privacy. No identifying information such as name, date of birth, address, or phone number will be asked. Only questions regarding the year of birth of family members will be asked.
Brain Activity Flow Patterns Analysis Using Evoked Response Potentials in Youth With ADHD, Bipolar...
Attention Deficit Hyperactivity DisorderAutism Spectrum Disorder1 moreThe study aims to evaluate whether or not an EEG (a type of brain scan) is useful in diagnosing youth with either ADHD, BPD, ASD. Youth with ADHD, BPD, ASD, and healthy controls (without ADHD, BPD, and ASD) will undergo an EEG, and the results will be analyzed using brain activity flow pattern analysis (BAFPA). Twenty subjects with each disorder and twenty without any of the disorders under study (controls) will be evaluated. All subjects will be comprehensively assessed with structured diagnostic interviews and neuropsychological testing. All EEG analyses will be conducted under blind conditions. Conditional probability and receiver operating characteristic (ROC) analyses will examine the diagnostic utility of the EEG scan, using the clinical diagnosis of ASD as the gold standard.
Near Infrared Spectroscopy in Children With Autism and ADHD
Attention Deficit Disorder With HyperactivityAttention Deficit Disorder3 moreBackground: - Near-infrared spectroscopy (NIRS) is a functional imaging technique that can be uses light to study brain function while allowing for movement. To look at blood flow in the brain, NIRS uses a low-power light source with detectors that see how the light changes as it passes through brain tissue. Brain blood flow can indicate which parts of the brain are active during different tasks. Researchers want to study children with attention deficit hyperactivity disorder (ADHD) and autism spectrum disorders (ASD) and will use NIRS to compare the blood flow in the brain of children with ADHD and ASD with that of typically developing children. Objectives: To see how well NIRS can detect changes in brain blood flow during tests of thinking and memory in children. To compare blood flow in the brains of typically developing children and those with ADHD or ASD. Eligibility: - Children between 4 and 8 years of age with ASD, ADHD, or children with no psychiatric diagnoses. Design: Participants will be screened for eligibility. Those who are taking stimulant medication for ADHD or ASD will need to stop taking it for 3 days before the study visit. After participating in a screening assessment, all participants will have one study visit. At this visit, they will have be asked to complete two tasks during a NIRS scan. For both tasks, they will react to images on a computer screen. This visit will last about 2 hours. This is a testing study only. No blood or other samples will be needed for this study.