Autism Awareness Day: let's enter their world!
Communities around the world come together on April 2 to celebrate Autism Awareness Day, to support people with autism and those who love and live them everyday.
What is Autism?Autism is a neurodevelopmental disorder that refers to a range of conditions that compromises the ability to interact and social skills. It induces repetitive behaviours and limits the speech and nonverbal communication in those affected.
Autism is a condition of permanent nature and has serious consequences for those affected from an early age.
Doctors and researchers have yet to identify the precise causes of autism, but according to some theories, the appearance of the neurodevelopmental disorder is linked to genetics (relatives with similar problems, that some people with autism are carriers, the existence of genes involved in brain development, genetic alterations) or particular environmental factors premature birth, intake of alcohol or certain medicines during pregnancy, exposure to highly polluted air, maternal infections, advanced age of the parents).
The first symptoms of Autism start around 2-3 years of life but it becomes apparent, unequivocally, when the patient comes into contact with a large number of other people on a daily basis, showing problems with interaction and socialization.
Characteristics of World Autism DayOn December 18, 2007, the UN General Assembly designated April 2 as World Autism Awareness Day and decided to use blue as the representative color for the day.
The explanation lies in the power to awaken the sense of "security" and the need for "knowledge", which are the places where the world of autism converges. Security" means the possibility, in the present, to live a free and at the same time protected existence, both for autistics and their families, but also the security of the future.
On the other hand, "knowledge" means the information of citizens so that they know how to deal with an autistic person, and the scientific research on the causes of this disorder, still largely unknown.
This is the reason behind the famous campaign Light It up the Blue, which aims to illuminate with the color blue all the main monuments of the world.
About genetics and Autism DiseaseAutism has many etiologies, as it has been documented in hundreds of neurologically based syndromes with multiple causes, outcomes, and treatment responses.
The number of children diagnosed with Autism has been increasing rapidly in the past few decades.
Changes in over 1,000 genes have been reported to be associated with Autism, but a large number of these associations have not been confirmed.
Autism is present throughout the person’s lifetime, and you may not know what caused it. Sometimes, autism runs in families. Some possible causes include:
- genetic differences;
- differences in brain development or in brain function; and
- exposure to harmful materials or chemicals in the environment
Effect of the genes on Autism can be variable. Some genes impact the risk of developing the disease ( this is the majority of the cases of genes and Autism), other genes are thought to be causative of the condition. Those mutations are rare and occur in one single spot in the genome.
For example, mutations in the ADNP gene cause a disorder called ADNP syndrome. In addition to ASD and intellectual disability, this condition involves distinctive facial features.
Many common gene variations, most of which have not been identified, are thought to affect the risk of developing ASD, but not all people with the gene variation will be affected. Some of the other genes in which rare mutations are associated with ASD, often with other signs and symptoms, are ARID1B, ASH1L, CHD2, CHD8, DYRK1A, POGZ, SHANK3, and SYNGAP1. In most individuals with ASD caused by rare gene mutations, the mutations occur in only a single gene.
Currently a genetic cause can be identified in 20% to 25% of children with autism. Single-gene disorders, in which neurologic findings are associated with autism spectrum disorder (ASD), can be identified in ~5% of ASD patient
ASD is a common condition, and affects almost five times as many males as females.
Avantages of getting the Whole Genome Sequencing for AutismGenetic tests for people with autism were far from routine as they used to be limited and too expensive. Whole Genome Sequencing is changing the scenario, as it is comprehensive and gives better chances to yield diagnostics results, change lives. They are not intended to diagnose autism — no known mutation leads to the condition every time - but results can substantially alter the course of treatments or prevention.
Genetic testing provides insight into the bigger picture.
It will identify mutations and defects that cause insidious injuries not easily seen by other test techniques. Identifying whether you carry a genetic mutation your genetic mutation can help you determine if you are eligible to enroll in certain clinical trials, the correct one for you.
People with a specific genetic mutation will produce better responses and more effective therapies.
For your family
It offers you the chance to enlighten your family members of the potential predisposition: through precise genetic testing results; you can get a glimpse of the probability of a family member getting a given gene-linked disorder.
For the entire community
It helps you to find the right way forward. Beyond benefits for the individual, sequencing exomes may be the only way scientists can uncover the full list of mutations related to autism. Understanding the connection between Autism and genetics can help us understand how the disease develops and ultimately how it can be treated or cured.
Dante Labs for Autism Awareness DayDante Labs decided to be involved in raising awareness of Autism.
In order to prevent it, we have just launched our brand new Autism report.
Also, our customer care service will be available to answer your questions and will help you understand the importance of genetic tests.
Wear blue and do not forget to Light It up the Blue!