The Role of Epigenetic Modifications in Autism Spectrum Disorder

Assiut University

Status: Unknown

Conditions: Autism Spectrum Disorder

Treatments: Genetic: DNA methylation and Real-time Polymerase Chain Reaction Analysis; Diagnostic Test: Gilliam Autism Rating Scale Arabic version

Study type: Observational

Funder types: Other

Identifiers

NCT03152838

HRM

Details and patient eligibility

About

Autism Spectrum Disorder is a neurodevelopmental disorder characterized by impaired social communication and repetitive or stereotyped behaviors. According to the World Health Organization , the prevalence of Autism Spectrum Disorder is one person in 160.

Full description

Genetic and non-genetic factors would contribute to the development of autism. However, the molecular mechanisms of ASD are not clear and successful treatments are still under research. Autism Spectrum Disorder can occur due to exposure to environmental pollutants which lead to epigenetic changes like DNA methylation, acetylation and post-translational modifications. However, the role of epigenetic changes in Autism Spectrum Disorder is still debated.

Epigenetic mechanisms represent a link through which environmental factors interact with the genetic factors resulting in modification of Autism Spectrum Disorder risk through changes in gene expression. DNA methylation and histone deacetylation are two major epigenetic mechanisms that regulate the gene expression at successive stages of brain development.

Brain derived neurotrophic factor is responsible for brain development. Altered BDNF levels and expression may be closely associated with Autism Spectrum Disorder. . Glial fibrillary acidic protein is the hallmark intermediate filament protein in astrocytes, the main type of glial cells in the central nervous system. Interestingly, Glial fibrillary acidic protein is a marker of astroglial activation and the recent data indicated that Glial fibrillary acidic protein could be implicated in the pathophysiology of autism. However, the underlying mechanisms for the role of brain derived neurotrophic factor and glial fibrillary acidic protein in autism spectrum disorder are poorly understood.

Enrollment: 40 estimated patients

Sex: All

Ages: 2 to 6 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

1. • All enrolled children with Autism Spectrum Disorder will be:

   1. Exhibit symptoms within the typical triad of autistic traits: communication impairment, social deficits, and ritualistic interests.
   2. Drug-naïve.
2. Children with Autism Spectrum Disorder and controls will be 2-6 years old.

Exclusion criteria

The control subjects will also clinically examined by the psychiatrist to exclude any sub-clinical autistic features. Children with Autism Spectrum Disorder and controls will excluded from the study if

1. They receive treatment for any reason.
2. -Endocrinological disease, mental retardation, communication disorder, psychotic disorder, attention deficit hyperactivity disorder and learning disorders seen in the children or their family members.

Trial design

40 participants in 2 patient groups

Autism Cases

Description:

20 confirmed autism cases will be involved in this study. 1. The autism patients will be diagnosed according to:Gilliam Autism Rating Scale Arabic version: An assessment of the severity of autism using the Gilliam autism rating scale Arabic version: This test was used for diagnosis and assessment of the severity of autistic features for ages 3-22 years. It consists of 56 items, subdivided into 4 subscales: communication, social interaction, stereotyped behaviors, development and total score. 2. Fasting blood samples will be collected from autism children for DNA Methylation-and quantitative Real-time Polymerase Chain Reaction Analysis

Treatment:

Diagnostic Test: Gilliam Autism Rating Scale Arabic version

Genetic: DNA methylation and Real-time Polymerase Chain Reaction Analysis

Control

Description:

20 age-gender matched typical development children that will be assigned to the normal control group. 1. Control children will be examined by a psychiatrist to exclude any sub-clinical autistic features. 2. Fasting blood samples will be collected from control children for DNA Methylation-and quantitative Real-time Polymerase Chain Reaction Analysis

Treatment:

Genetic: DNA methylation and Real-time Polymerase Chain Reaction Analysis