What is autism, who is affected, and the importance of early detection

What is autism?

Autism Spectrum Disorder (ASD) is a neurological and developmental disorder that impacts how individuals interact, communicate, learn, and behave.1 It affects over 75 million people worldwide, making it one of the most prevalent neurodevelopmental disorders.6 Early detection of autism is crucial, as it allows for timely intervention that can significantly improve developmental outcomes and quality of life.3 However, give its most common symptoms include repetitive behaviors, very specific interests, nonverbal communication or delayed language development, it becomes difficult to recognize these symptoms early.2 In recent years, however, genetic testing has emerged as a powerful tool in identifying autism at an early age. By uncovering specific genetic markers associated with the disorder, these tests can facilitate earlier diagnoses and personalized treatment plans. In this blog, we will explore the importance of early detection of autism through genetic testing, highlighting its potential to transform the lives of individuals and families affected by autism.

What causes autism (risk factors)

1. Family history

   Families who have one child with autism have an increased risk of having another child with autism.

2. Sex

   Boys are about four times more likely to develop autism than girls are.

3. Other disorders

   Disorders such as fragile X syndrome can increase risk of developing autism.

4. Parent’s age

   There is a proposed connection between children being born to older parents and autism.

5. Preterm babies

   Babies born before 26 weeks of gestation may have a greater risk to develop autism.

While other factors, such as parental age, can contribute to the risk of autism, genetic factors are the primary drivers of the disorder. Research indicates that more than 100 genes are strongly associated with autism.

Importance of early detection

Diagnosing autism early in life is crucial for providing children with the necessary treatment, enabling families to plan effectively for the future. Early diagnosis allows parents to consider appropriate programs and adjustments for their child. Younger children possess greater brain plasticity, meaning their brains are more adaptable, making it easier to implement positive changes and mitigate harmful behaviors. Early intervention improves children's chances of developing new skills and reducing symptoms, equipping them with the tools needed to overcome challenges. Without early support, children may struggle more as they grow older.

Who else should do genetic screening? Why?

Even though early detection is the main goal of the product, children who demonstrate significant developmental delays or difficulties in social interactions and those already diagnosed with autism should also consider taking this genetic test. Although genetic testing may not provide answers for everyone, it can help many individuals understand the potential causes of autism and identify future medical issues related to co-occurring conditions.8 By pinpointing genes associated with Autism Spectrum Disorder (ASD) and related issues like epilepsy—affecting about 30% of autistic individuals—genetic testing can guide therapies and care plans to improve quality of life.8 Additionally, it serves as a life-saving screening tool; knowing about genetic mutations linked to serious illnesses can enable proactive health management, allowing individuals to avoid risky activities and make informed decisions about their health.

Reference

1. National Institute of Mental Health. (n.d.). Autism spectrum disorder (ASD). Retrieved from https://www.nimh.nih.gov/health/topics/autism-spectrum-disorders-asd%20is,first%202%20years%20of%20life)

2. Public Health Agency of Canada. (n.d.). Signs and symptoms of autism spectrum disorder (ASD). Retrieved from https://www.canada.ca/en/public-health/services/diseases/autism-spectrum-disorder-asd/signs-symptoms-autism-spectrum-disorder-asd.html

3. Frontiers in Human Neuroscience. (2015). Retrieved from https://www.frontiersin.org/journals/human-neuroscience/articles/10.3389/fnhum.2015.00159/full

4. Autism Speaks. (n.d.). What causes autism? Retrieved from https://www.autismspeaks.org/what-causes-autism

5. The Transmitter. (n.d.). Autism genetics explained. Retrieved from https://www.thetransmitter.org/spectrum/autism-genetics-explained/

6. Discovery ABA. (n.d.). Shocking autism statistics. Retrieved from https://www.discoveryaba.com/statistics/how-many-people-have-autism

7. ECCM. (n.d.). Why is early intervention important for diagnosing autism? Retrieved from https://www.eccm.org/blog/why-is-early-intervention-important-for-diagnosing-autism