Advertisement

Topics

Exome Sequencing in Autistic Spectrum Disorder

2014-08-27 03:16:16 | BioPortfolio

Summary

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.

Description

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by functional deficits in three domains: social interaction, communication, and stereotypic behavior. Prevalence has been estimated to be approximately 1/166 children and the public health impact is significant. ASD clearly has a genetic component; however, identification of specific etiologies has been complicated by the heterogeneous nature of ASD. One approach to minimize this problem is to define endophenotypes that can subcategorize ASD patients. Based on our work with Smith-Lemli-Opitz syndrome, we have investigated whether alterations in cholesterol homeostasis may contribute to ASD. We found in 200 ASD subjects that 23% of subjects had serum cholesterol levels less than or equal to 2.28th centile and 9% had levels greater than or equal to 97.72nd centile. Analysis of the sterol profile suggested that the hypocholesterolemia was due to a synthetic defect rather than decreased oral intake. Thus we hypothesize that ASD patients with abnormal cholesterol levels will have polymorphisms or mutations of either genes involved in cholesterol homeostasis or genes encoding proteins whose function is altered by changes in cholesterol levels. To test this hypothesis we propose to 1) use serum cholesterol levels to define ASD endophenotypes and 2) to perform genomic resequencing of all known exons in hypo- and normocholesterolemic ASD patients.

Study Design

N/A

Conditions

Autism Spectrum Disorder

Location

Kennedy Krieger Institute
Baltimore
Maryland
United States
21205

Status

Recruiting

Source

National Institutes of Health Clinical Center (CC)

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:16:16-0400

Clinical Trials [891 Associated Clinical Trials listed on BioPortfolio]

The Role of Epigenetic Modifications in Autism Spectrum Disorder

Autism Spectrum Disorder is a neurodevelopmental disorder characterized by impaired social communication and repetitive or stereotyped behaviors. According to the World Health Organization...

Study to Assess the Janssen Autism Knowledge Engine in Participants With Autism Spectrum Disorder and in a Normally Developing Cohort

The purpose of this study is to evaluate the utility of and to clinically validate the Autism Behavior Inventory (ABI) in measuring clinical symptoms of Autism Spectrum Disorder (ASD) comp...

A Trial of TTA-121 on Autism Spectrum Disorder

To test efficacy and safety of a novel nasal spray of oxytocin on social deifies in autism spectrum disorder, and To compare effect sizes of different doses

Feasibility and Effectiveness of Computerized Cognitive Training in Adolescents With Autism Spectrum Disorder

The investigators will conduct a randomized placebo-controlled trial of a computerized intervention targeting cognition in 30 teens with autism spectrum disorder.

SEMATIC Pilot Study in Children With Autism Spectrum Disorder Using an Innovative Edutainment Software

Use of the software could allow learning of reading code in subjects with ASD through the design of serious games for educational and therapeutic purposes. This SEMATIC software could imp...

PubMed Articles [6607 Associated PubMed Articles listed on BioPortfolio]

Tracing the temporal stability of autism spectrum diagnosis and severity as measured by the Autism Diagnostic Observation Schedule: A systematic review and meta-analysis.

Exploring ways to improve the trajectory and symptoms of autism spectrum disorder is prevalent in research, but less is known about the natural prognosis of autism spectrum disorder and course of symp...

Genetics and Epigenetics of Autism (Review).

Autism is a developmental disorder that starts before age 3, and children with autism has impairment in both social interaction and communication, and has restricted, repetitive and stereotyped patter...

When Asperger's Disorder Came Out.

In 2013, the American Psychiatric Association removed Asperger's Disorder from the DSM, offering instead the new DSM-5 diagnosis: Autism Spectrum Disorder. This change has been hailed the most controv...

Sensory abnormalities in children with autism spectrum disorder.

The clinical picture of children with autism spectrum disorder is characterized by deficits of social interaction and communication, as well as by repetitive interests and activities. Sensory abnormal...

Association of White Matter Structure With Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder.

Clinical overlap between autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) is increasingly appreciated, but the underlying brain mechanisms remain unknown to date.

Medical and Biotech [MESH] Definitions

A childhood disorder predominately affecting boys and similar to autism (AUTISTIC DISORDER). It is characterized by severe, sustained, clinically significant impairment of social interaction, and restricted repetitive and stereotyped patterns of behavior. In contrast to autism, there are no clinically significant delays in language or cognitive development. (From DSM-IV)

Wide continuum of associated cognitive and neurobehavioral disorders, including, but not limited to, three core-defining features: impairments in socialization, impairments in verbal and nonverbal communication, and restricted and repetitive patterns of behaviors. (from DSM-V)

Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. They result in cognitive impairment; SEIZURES; and HYPOTONIA or spasticity. Mutations of two genes, LIS1, the gene for the non-catalytic subunit of PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE IB; and DCX or XLIS, the gene for doublecortin, have been identified as the most common causes of disorders in this spectrum. Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for aristaless related homeobox protein. (From Leventer, R.J., et al, Mol Med Today. 2000 Jul;6(7):277-84 and Barkovich, A.J., et al, Neurology. 2005 Dec 27;65(12):1873-87.)

A broad-spectrum spectrum antineoplastic antibiotic isolated from Streptomyces refuineus var. thermotolerans. It has low toxicity, some activity against Trichomonas and Endamoeba, and inhibits RNA and DNA synthesis. It binds irreversibly to DNA.

Behavioral science applied with the aim of improving socially important issues such as behavior problems and learning. For individuals diagnosed with intellectual and developmental disabilities including AUTISM, techniques can be categorized as comprehensive or focused.

More From BioPortfolio on "Exome Sequencing in Autistic Spectrum Disorder"

Advertisement
Quick Search
Advertisement
Advertisement

 

Relevant Topics

Bioinformatics
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...

Pediatrics
Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...


Searches Linking to this Trial