Active clinical trials for "Autistic Disorder"

There 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.

The 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.

Rationale: 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.

Autism 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.

Understudied drugs will be administered to children per standard of care as prescribed by their treating caregiver and only biological sample collection during the time of drug administration will be involved. A total of approximately 7000 children aged <21 years who are receiving these drugs for standard of care will be enrolled and will be followed for up a maximum of 90 days. The goal of this study is to characterize the pharmacokinetics of understudied drugs for which specific dosing recommendations and safety data are lacking. The prescribing of drugs to children will not be part of this protocol. Taking advantage of procedures done as part of routine medical care (i.e. blood draws) this study will serve as a tool to better understand drug exposure in children receiving these drugs per standard of care. The data collected through this initiative will also provide valuable pharmacokinetic and dosing information of drugs in different pediatric age groups as well as special pediatric populations (i.e. obese).

Background: 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.

The 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.

This study aims to investigate the overlap and differences between autism and MCDD as neuropsychiatric childhood disorders. MRI scans are acquired from subjects with autism, subjects with a diagnosis of MCDD and typically developing controls. Volumetric measure of various brain regions are compared between groups. We hypothesize that subjects with autism will have larger brains than controls, whereas subjects with MCDD will have smaller brains.

The 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.

Previously it has been shown that Familial Encephalopathy with neuroserpin inclusion bodies (FENIB) patients develop abnormalities that partially overlap with Autism Spectrum disorders (ASD), confounded with additional features that could be explained by inclusion body formation not expected in subjects with inclusion body forming SERPINI1 mutations. There is no described human neuroserpin deficiency phenotype. The neuroserpin knockout mouse phenotype also suggests a possible overlap with autism. Neuroserpin could contribute directly at the synapse or through altered neuron migration during early development leading to the "underconnectivity" that underlies autism by potentially contributing to the excess of short connections and not enough long ones seen in autistic brains, possibly due to an imbalance in pruning of neurons and synapses early in life. It is thus proposed to sequence the neuroserpin gene in initially 20, and subsequently up to 100 idiopathic autistic patients selected as having the language impairment and perseveration endophenotypes.