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Autism Spectrum Disorder and Hyperactivity (Attention Deficit) are two huge challenges for parents, educators and for the policy of integration into the educational system. It is not always easy to perform a rigorous diagnosis of any of these conditions, and above all it would be important to do it as early as possible to better plan intervention strategies. There are well defined clinical criteria to achieve a diagnosis, but the truth is that sometimes that diagnosis is not safe and often it is performed at the wrong time, besides which support measures are not always adequate. Therefore, the recently released discovery that there is a genetic correlation between the two clinical situations will be helpful for its timely identification.

It is known that attention deficit is common to autism and hyperactivity, and today it is possible to better understand the biological bases of autism through the functional imaging of the brain, especially with a technique that allows visualising the so-called connectome. In general terms, one might define the connectome as the use of a causality algorithm on images obtained through magnetic resonance imaging while at rest. It is possible, hereby, to understand how the different regions of the brain are related (or connected). Now, for some years, 16 international scientific institutions have agreed to use the same methodology of collecting information from magnetic resonance imaging in cases of neuropsychiatric pathology, in order to build large databases. The statistics obtained from large databases allow for much more accurate interpretative results as well as the identification of homogeneous subgroups. The working group in charge of the study on autism is called Autism Brain Imaging Data Exchange (ABIDE) and today gathers information on more than a thousand cases, both carriers of the disease and individuals without the disease that are necessary for statistical comparisons (see the review by Mevel & Fransson 2016).

The important news was published in one of the last issues of Nature Neuroscience 2019 (Satterstrom et al. 2019). Using ABIDE data, which include biological samples of the cases, and where it was possible to find a genetic difference between the carriers of both disorders and control individuals, it was found that the genetic anomaly was common to both clinical situations. Previous studies, namely with identical twins, had already suggested some common variants between the two populations, and even the fact that the manifestations of both clinical situations appear at the same age and predominantly in boys had already indicated a biological proximity (Martin et al. 2014). Although genetic markers are found, this does not mean that the diseases are hereditary or that therapeutic intervention cannot contradict what genetics seems to want to impose. Today, the field of epigenetics – that which allows us to influence the apparent determinism of genetics – is considered as fundamental to counteract the symptoms of diseases.

This result, however, does not yet support in practice those who need help or those who need to help, although we are closer to understanding the biology of these clinical situations, which will allow us to obtain earlier diagnoses and design future treatment strategies. The advantage of earlier diagnosis is the possibility of better controlling the symptomatology, combating apparent genetic determinism. It is especially important to know that scientists are committed to understanding hyperactivity and autism and that the methodology used in studies is increasingly sophisticated, enabling important advances.

Autism Spectrum Disorder and Hyperactivity (Attention Deficit) are two huge challenges for parents, educators and for the policy of integration into the educational system. It is not always easy to perform a rigorous diagnosis of any of these conditions, and above all it would be important to do it as early as possible to better plan intervention strategies. There are well defined clinical criteria to achieve a diagnosis, but the truth is that sometimes that diagnosis is not safe and often it is performed at the wrong time, besides which support measures are not always adequate. Therefore, the recently released discovery that there is a genetic correlation between the two clinical situations will be helpful for its timely identification.

It is known that attention deficit is common to autism and hyperactivity, and today it is possible to better understand the biological bases of autism through the functional imaging of the brain, especially with a technique that allows visualising the so-called connectome. In general terms, one might define the connectome as the use of a causality algorithm on images obtained through magnetic resonance imaging while at rest. It is possible, hereby, to understand how the different regions of the brain are related (or connected). Now, for some years, 16 international scientific institutions have agreed to use the same methodology of collecting information from magnetic resonance imaging in cases of neuropsychiatric pathology, in order to build large databases. The statistics obtained from large databases allow for much more accurate interpretative results as well as the identification of homogeneous subgroups. The working group in charge of the study on autism is called Autism Brain Imaging Data Exchange (ABIDE) and today gathers information on more than a thousand cases, both carriers of the disease and individuals without the disease that are necessary for statistical comparisons (see the review by Mevel & Fransson 2016).

The important news was published in one of the last issues of Nature Neuroscience 2019 (Satterstrom et al. 2019). Using ABIDE data, which include biological samples of the cases, and where it was possible to find a genetic difference between the carriers of both disorders and control individuals, it was found that the genetic anomaly was common to both clinical situations. Previous studies, namely with identical twins, had already suggested some common variants between the two populations, and even the fact that the manifestations of both clinical situations appear at the same age and predominantly in boys had already indicated a biological proximity (Martin et al. 2014). Although genetic markers are found, this does not mean that the diseases are hereditary or that therapeutic intervention cannot contradict what genetics seems to want to impose. Today, the field of epigenetics – that which allows us to influence the apparent determinism of genetics – is considered as fundamental to counteract the symptoms of diseases.

This result, however, does not yet support in practice those who need help or those who need to help, although we are closer to understanding the biology of these clinical situations, which will allow us to obtain earlier diagnoses and design future treatment strategies. The advantage of earlier diagnosis is the possibility of better controlling the symptomatology, combating apparent genetic determinism. It is especially important to know that scientists are committed to understanding hyperactivity and autism and that the methodology used in studies is increasingly sophisticated, enabling important advances.


References

Martin, J. et al., «Biological Overlap of Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder: Evidence From Copy Number Variants», Journal of the American Academy of Child and Adolescent Psychiatry, 53(7), 2014, pp. 761-770.

Mevel, K., & Fransson, P., «The functional brain connectome of the child and autism spectrum disorders», Acta Pædiatrica, 105 (9), 2016, pp. 1024-1035. ISSN 0803-5253

Satterstrom, F. et al., «Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants», Nature Neuroscience, 22, 2019, pp. 1961-1965.