Autism Spectrum Disorder (ASD) is defined as a chronic neurological dysfunction that can manifest itself through a series of symptoms related to social interaction, communication and lack of flexibility in reasoning and behavior. The complexity of the clinical manifestations suggests a multifactorial etiology with genetic alterations being the main cause of its development. The term "spectrum", within its diagnostic name, refers to the wide variety of symptoms, abilities and severity levels that people with this disorder may present.
Diagnosis of ASD
The diagnosis of ASD is made through behavioral assessment, observation of the patient's behavior, life history and interaction with the environment. This process must be carried out by a qualified and specialized team of professionals, including the following tests:
- Medical examinations
- Psychological and psychiatric evaluation: cognitive, adaptive, communicative, emotional well-being, and behavioral.
- Genetic study
Genetic studies are important tools to try to understand the cause of ASD and may be indicated depending on individual factors, such as the existence of a family history or the presence of clinical signs that raise suspicion of a syndromic pathology such as certain craniofacial dysmorphologies or intellectual disability, among others.
The performance of the genetic study will be preceded by a genetic counseling consultation with the patient's parents where a qualified geneticist will gather important information for the correct interpretation of the results, will answer all the existing doubts and will explain the future risks in case the parents wish to have more children.
At Dreamgenics we useNext-generation Sequencing to sequence the patient's DNA and analyze more than 400 genes with a proven association with the development of ASD. Once the results have been obtained, our geneticists carry out a post-analysis genetic counseling consultation with the parents to provide them with the genetic report, explain the results obtained and their implications. Likewise, they will be available at all times to collaborate with the physician requesting the study and the professionals handling the case and to help them in whatever they need.
If you would like more information about this genetic study, or other similar ones, you can contact us by calling 613 031 849 to speak with our Clinical Genetics Manager, Dr. Leyre Larzabal, or by sending an email to genetica@dreamgenics.com.
