Think of DNA as the instruction manual for building and running our bodies. It’s made up of long strands that contain all the information needed to create and maintain life. Genes are specific sections of DNA that contain the instructions for making proteins, which do most of the work in our cells. Each gene has a particular job, like building a part of the brain or helping the immune system function. RNA is like a messenger that carries the instructions from the DNA to the parts of the cell where proteins are made. It helps translate the genetic code into actual proteins. By studying RNA, we can see which genes are active and how they are being used in the body. This helps understanding what might be going wrong in the brains of individuals with autism. This is how patterns that are linked to autism are identified leading to early and accurate diagnosis of autism.

RNA-seq allows for a comprehensive view of the genome’s expression profile, offering real-time insights into the activities within our tissues, down to the individual cell level. RNA holds the genetic signatures of autism amidst the vast information derived from approximately 20,000 genes.

Hundreds of genes have been associated with the potential risk for autism. However, the risk of a particular variant from a single gene is quite small, making it extremely challenging to predict with high confidence whether the individual harboring that variant will develop autism.  As DNA sequencing only provides a static unchanging picture of the genome, RNA sequencing provides a dynamic and comprehensive picture of what is happening in our body, from tissue down to individual cell levels that ultimately determine our expressive traits and actual risks for diseases including autism.

Early intervention is crucial in autism therapy. It can enhance cognitive, social, and communication skills, reduce the severity of symptoms and behavioral challenges, and foster greater independence through improved self-care, self-regulation, and daily living skills. This is because a young child’s brain is more adaptable at ages 2 or 3 compared to older ages. Additionally, early intervention can lead to significant savings on long-term therapeutic costs

Many neurological diseases have genetic impacts on organs beyond the brain. A clear example is Down Syndrome, which results from an individual having a partial or full extra copy of chromosome 21 (trisomy 21). Down Syndrome patients experience developmental impairments not only in the brain but also in other organs, including the heart, immune system, and skeletal system. Additionally, there is growing recognition of the two-way communication between the brain and other organs, such as the brain-gut immune axis. In other words, issues in the brain can manifest in other parts of the body.

Autism typically begins to manifest around 12 months of age. Additionally, some children with autism may gain new skills and reach developmental milestones until about 18 to 24 months, after which they may either stop acquiring new skills or start losing the skills they have learned. Due to this, the American Academy of Pediatrics recommends that autism diagnosis should occur at 18 months of age.

Autism usually starts to manifest around 12 months of age. However, due to the complex diagnostic process, which involves multiple behavioral assessment sessions, the average age of diagnosis globally is around 5 years. This delay results in missing the critical period for effective early intervention therapy.

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