Autism Spectrum Disorder (ASD)

Introduction

Autism, also known as autism spectrum disorder (ASD), is a neurodevelopmental condition that is constantly being researched by scientists. Autism has many challenges in social communication, repetitive behaviors, and restricted interests, autism develops differently in each individual, which refers to the term "spectrum." The experiences and abilities of people with autism can vary greatly. Some require substantial support while others have exceptional talents and strengths.

The prevalence of autism has been steadily increasing worldwide, highlighting the need for greater understanding and support for affected individuals and their families. In the US, about one in thirty-six children are diagnosed with autism, and is shown to be more prevalent in males than females.Research into the causes, early detection, and intervention strategies for autism has also seen significant advancements, leading to improved diagnosis and support systems.

Clinical symptoms

The symptoms of autism spectrum disorder (ASD) can vary from different people. The severity can depend on one's age, cognitive and language skills, and co-occurring conditions. When one has autism, the symptoms can be social communication difficulties, repetitive behaviors, restricted interest, and sensory sensitivities. For example, an action one might do if they have autism is not responding to their name, avoiding eye contact, not smiling when you smile at them, getting very upset if they do not like a certain taste, smell or sound, repetitive movements, such as flapping their hands, flicking their fingers or rocking their body, and not talking as much as others.

Tests available

There are multiple types of tests that can determine whether or not someone is diagnosed with autism. One of the available tests is the Developmental Screening Tools, which consist of multiple questions or checklists to identify developmental delays and early signs of autism. There is the Modified Checklist for Autism in Toddlers (M-CHAT) and the Ages and Stages Questionnaires (ASQ). Another set of tests used to identify autism are the Autism-Specific Diagnostic Tools, which are standardized assessments designed to detect the presence of autism symptoms and behaviors. The most commonly used autism-specific diagnostic tool is the Autism Diagnostic Observation Schedule (ADOS), which involves direct observation and interaction with the individual to assess social communication and repetitive behaviors.

Treatments: There has been no treatment available to cure autism. However, there are various treatments available to improve the quality of life and functioning of individuals with autism. The effectiveness of these treatments may vary depending on the individual, as autism is a complex and diverse condition.

Genetic information

There are multiple genes, in which rare mutations that are associated with ASD, that are involved in autism and the development of autism. Often with other signs and symptoms, are ARID1B (location: chromosome 6), ASH1L (location: chromosome 1), CHD2 (location: chromosome 15), CHD8 (location: chromosome 14), DYRK1A (location: chromosome 21), POGZ (location: chromosome 1), SHANK3 (location: chromosome 22), and SYNGAP1 (location: chromosome 6).

The proteins in the image above are linked to the risk of autism. (Source)

ARID1B

Mutations in the ARID1B gene are linked to a rare genetic disorder known as Coffin-Siris syndrome (CSS). Individuals affected by Coffin-Siris syndrome typically exhibit developmental delays, intellectual disability, distinctive facial features, and may also have additional medical issues such as underdeveloped fifth fingernails and toenails, as well as other congenital anomalies.

DNA (Deoxyribonucleic Acid) is the fundamental genetic material present in every cell of an individual's body. It carries the genetic instructions that determine the development, functioning, and characteristics of a living organism. Several studies have shown that there is a strong genetic component to autism. Certain genes and genetic variations have been identified as potential risk factors for developing autism.

On-going research

Ongoing research in autism spectrum disorder has focused on understanding the genetic basis of the condition. Scientists have made significant progress in identifying specific genes associated with autism, having pinpointed variants in 102 genes linked to an increased risk of developing the disorder. Interestingly, further investigation has revealed that 53 of these identified genes show a strong association with autism specifically, rather than being commonly shared with other developmental conditions. These findings provide valuable insights into the genetic complexity of autism and pave the way for more targeted interventions and personalized treatments in the future.

Scientists have also discovered that the gene mutation that leads to the development of autism has been found to overstimulate brain cells. Furthermore, they are currently researching to understand the fundamental brain mechanisms of autism spectrum disorder.

The picture above depicts the STRING network of ARID1B. (Source)

Future directions of research

Autism is not an illness. Currently, there is no cure for it. There is controversy amongst some of those with autism and their family members because of the belief that scientists should not research a cure for autism, since some believe that it is not a disease, but a naturally occurring human neurological variation. However, there are multiple opportunities for enhancing the lives of individuals with autism and supporting their unique needs and strengths. By focusing on interventions and support systems, significant improvements can be made to promote the well-being and development of people with autism.

• Ensuring that diagnostic assessments for autism are accessible and affordable can help reduce barriers to diagnosis and intervention, particularly for underserved populations.
• Tailoring treatment plans to each individual's unique strengths, challenges, and needs can lead to more effective outcomes. Personalized interventions can address communication, behavior, social skills, and adaptive functioning.

Conclusion

In summary, more light should be shed on the nature of autism spectrum disorder (ASD) and its impact on individuals, families, and society. Through a review of research and data analysis, what is important is early detection, intervention, and support for individuals with ASD. The prevalence of autism continues to rise, leading to increased awareness and understanding of this neurodevelopmental condition. While the exact cause of autism remains unknown, it is important to focus on the role of genetic and environmental factors in its etiology. Early identification and diagnosis play an important role in facilitating early interventions, which allows individuals with ASD to access appropriate and available therapies and educational support.

References

1. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8900942/

2. An Update on Psychopharmacological Treatment of Autism Spectrum Disorder | Neurotherapeutics

3. How do you know if an autism organization is good?

4. Genes Involved in the Development of Autism

5. Autism spectrum disorder: MedlinePlus Genetics

6. https://string-db.org/cgi/network?taskId=b0Ml3LGhifrY&sessionId=bTvNecqO3qKO

7. https://www.autismspeaks.org/autism-statistics-asd

Click to view enlarged poster.

    

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_By: Jackelyn Lange_

The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of Elio Academy.