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Posted: December 4th, 2023

Genetic Research in Autism Spectrum Disorder: New Trends

Genetic Research in Autism Spectrum Disorder: New Trends

Autism spectrum disorder (ASD) is a developmental condition that affects how a person communicates, interacts and behaves with others. ASD is a spectrum, meaning that it can vary in severity and symptoms from person to person. According to the Centers for Disease Control and Prevention (CDC), about 1 in 54 children in the United States have been diagnosed with ASD as of 2016.

The causes of ASD are not fully understood, but research has shown that both genetic and environmental factors play a role. In this blog post, we will focus on the genetic aspects of ASD and explore some of the new trends and discoveries in this field.

Genetic Testing for ASD

Genetic testing is a process that involves analyzing a person’s DNA to look for changes or mutations that may be associated with a certain condition or trait. Genetic testing can help identify the causes of ASD in some cases, but it cannot be used to diagnose ASD by itself.

Some people with ASD have syndromic ASD, meaning that they have other specific features in addition to having ASD, such as looking different from other people in the family or having birth defects. Most people with syndromic ASD have a genetic cause for their ASD, such as a chromosomal abnormality or a single gene disorder. For example, Fragile X syndrome, Rett syndrome and tuberous sclerosis are some of the known genetic syndromes that can cause ASD.

However, most people with ASD have non-syndromic ASD, meaning that they do not have any other obvious features besides having ASD. The genetic causes of non-syndromic ASD are more complex and diverse, involving multiple genes and interactions with environmental factors. Researchers have identified hundreds of genes that may be involved in ASD, but each gene may only contribute a small amount of risk or may only affect certain subtypes of ASD.

There are two main types of genetic testing that can be used to look for genetic causes of ASD: microarray and sequencing. Microarray is a technique that compares a person’s DNA to a reference DNA and detects any large chunks of DNA that are missing or duplicated. These chunks are called copy number variants (CNVs) and can affect the function or expression of genes. Sequencing is a technique that reads the exact sequence of letters (A, T, C, G) in a person’s DNA and detects any small changes or errors in the spelling. These changes are called single nucleotide variants (SNVs) or indels (insertions or deletions) and can affect the function or structure of proteins.

Both microarray and sequencing can reveal genetic variants that may be associated with ASD, but they have different advantages and limitations. Microarray can detect CNVs across the whole genome, but it cannot detect SNVs or indels. Sequencing can detect SNVs and indels across the whole genome (whole genome sequencing) or across the parts of the genome that code for proteins (whole exome sequencing), but it cannot detect CNVs very well. Therefore, both techniques are complementary and can provide different information.

The results of genetic testing can have different implications for people with ASD and their families. Some genetic variants may be inherited from one or both parents, meaning that they are present in every cell of the body and may affect other aspects of health or development. These variants may also have implications for the recurrence risk of ASD in future children or siblings. Other genetic variants may be de novo, meaning that they occurred spontaneously during the formation of the egg or sperm or during early development. These variants are only present in some cells of the body and may not affect other aspects of health or development. These variants may also have lower recurrence risk of ASD in future children or siblings.

Genetic testing can help provide answers to some of the questions that people with ASD and their families may have, such as why they have ASD, what are their chances of passing it on to their children, what are their medical risks or needs, and what are their treatment options. However, genetic testing also has some limitations and challenges, such as:

– Not all people with ASD will have a genetic variant that can be detected by current techniques.
– Not all genetic variants that are detected will be clearly related to ASD or have known effects on health or development.
– Not all genetic variants that are related to ASD will have specific treatments or interventions available.
– Genetic testing may reveal unexpected or incidental findings that are not related to ASD but may have implications for health or family planning.
– Genetic testing may raise ethical, legal or social issues regarding privacy, consent, disclosure, discrimination or stigma.

Therefore, genetic testing for ASD should be done with careful consideration and guidance from qualified professionals who can provide accurate information, counseling and support.

New Trends in Genetic Research on ASD

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