A set of 38 genes that seem to have a strong association with intellectual disability and autism have been identified. Out of these, some are found to have a primary association with intellectual disability, while others show a link with autism.
Fifty-three of the earlier identified genes also highlight the importance of genetic findings in intellectual disability and autism.
Greater knowledge about genes that are related to autism disorders, as well as others, plays an important role in helping individuals to stay better informed and to anticipate any needs that may arise regarding their children, as well as guiding them to seek early support. It also contributes to the understanding of the fundamental processes of behaviour and memory.
It should be noted that genetic contribution to disability and autism is in no way about categorising children or blaming elders. Rather, the aim is to increase accurate diagnoses as well as early interventions. Many autistic individuals and others with disabilities are living without an accurate diagnosis.
The DNA of more than 11,700 patients was analysed. These patients were from 15 centres spread across seven different countries and four continents. Those chosen for the study had an earlier history of clinical diagnosis or some intellectual disability. To get a more accurate result, DNA of 2,800 normal individuals came from a control group—those without any disability.
Mutations in eight genes were found to be inclined more toward autistic patients, more often for HFA. Mutations in 17 genes that have recently been discovered were linked to intellectual disability.
However, it must also be noted that for the majority of the genes, it does not hold ground to classify them as either intellectual disability or autism.
It is also surprising to note that as much as 65% of the mutations were found to be inherited from parents, even though they were either unaffected or less affected with autism. Although mutations have some role to play, it is not accurate to say that they cause intellectual disability or autism alone. Many other external factors and non-genetic factors come into play.
Currently, scientists and researchers have not been able to shortlist other factors that contribute to autism on par with genetic mutations that are said to cause disabilities. This could also answer questions regarding whether some factors are responsible for protecting those who were unaffected by disability or autism. The search for and identification of these factors is an important milestone in the research-based studies that would assist researchers to develop better therapeutic and diagnostic tools in the near future.
Helping Family Decisions
This study reveals the role of 91 genes that could hold a good amount of evidence for the causes of intellectual disabilities and autism. A possibility of using DNA-sequencing to dig deeper to identify the genes could be accomplished in the near future.
This could help researchers in the field to create methods to correct gene function or to minimize the consequences of gene malfunctions.
A precise and accurate test for families looking forward could be a possibility which would influence future reproductive decisions.
Being better informed about genetic and non-genetic factors that are responsible for the shape of the brain and brain development plays a great role in education, support, and clinical management for everyone.