Autism: New Study Finds 102 New Genes Related to This Condition

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Autism Spectrum Disorder (ASD) is a developmental neurobiological disorder that appears in the first years of life, and will be maintained throughout the life span.

ASD, in general, is a complex condition of neurodevelopment quite challenging. It is believed to be caused by environmental and genetic factors. In its phenotypic manifestation, it presents characteristics due to persistent differences in interaction and social communication in different contexts, with repetitive and restrictive patterns of activities, interests or behavior.

The Largest Study on the Neurobiology of Autism

A team of researchers recently published in Cell the results of the largest study on autism. The best genetic sequencing technology and one of the largest databases with the DNA samples of people with autism were used and 102 genes were identified – out of 65 identified in 2015 – related to this condition. At the same time, 30 genes were identified that have never been related to autism before.

In the study, some of the genes more rigorously linked to this disease were also distinguished from those that could also collaborate with the appearance of other disorders of the so-called neurological development, among which are motor and intellectual disabilities.

The international team, with researchers from more than 50 regions, collected and analyzed samples from more than 35 thousand participants, which included about 12 thousand samples of people with this condition. This was possible thanks to the collaboration of the Autism Sequencing Consortium.

In turn, Joseph D. Buxbaum, Ph.D., an American molecular and cellular neuroscience, autism researcher, and the Director of the Seaver Autism Center at the Icahn School of Medicine at Mount Sinai. He stated that “Thanks to this historical study, important both because of its size as well as the great international collaboration effort required, these results were revealed on what we can begin to understand what brain changes underlie autism spectrum disorder(ASD) and begin to consider new facets and treatment approaches”.

Significant signs of Autism in Children

In addition to the two main symptoms of ASD cited above, there are some indicative parameters that can help us identify this condition more quickly in children:

  • In general, at school or before, they show no interest in the other children.
  • There is an absence of symbolic play. This refers to not playing with the cars, feeding or cooking with the dolls, etc.).
  • They do not share interests. They do not have the habit of pointing out something that interests them or attracts attention to show or share with others.
  • They do not like physical contact or avoid it completely. In general, they have hypersensitivity of touch, auditory, gustatory and olfactory. Often, they have little sensitivity to pain.
  • They present repetitive, strange and self-stimulating behaviors such as fluttering hands, walking on tiptoes or the typical swinging, among others.
  • They lack a social smile. It establishes little eye contact with the interlocutors.
  • Their language, if one exists, to a lesser or greater extent is literal. They fail to understand jokes, jokes, metaphors or double meanings.
  • Presence of unusual interests. They can be repetitive and not shared.
  • They have little reaction to the parents’ voices. Possible auditory deficit.
  • Those who have a higher level of intelligence do not understand what happens to them and notice that they are different. They are a piece of the puzzle that does not fit the social picture.

Risk Factor’s

While the specific causes of autism are not recognized, some risk factors that may contribute to the development of childhood autism have been identified:

  • Neurobiological basis
  • Environmental factors
  • Structural causes
  • Prenatal and perinatal risk factors:
  • Obstetric factors
  • Stress
  • Folic acid
  • Intestinal intestine connection
  • Controversial:
  • Vaccines
  • Parenting


In 2019, WHO presented the ICD-11, which will take effect in 2022. For this edition, the parameters and diagnostic criteria of autism were updated with the term “Autism Spectrum Disorder”. This category also includes:

  • Autism
  • Child Disintegrative Disorder
  • Asperger syndrome
  • Other (unspecified) generalized developmental disorders

We know how difficult it can be to have a family member with autism. In general, the autistic cannot distinguish one game from another such as basketball, or animals such as a Kentucky Derby racehorse or a pig.

Nevertheless, thanks to these new discoveries and the advancement of science, we can understand a little more about ASD and have a broader picture of new treatments. We must not lose hope!