Digestive Problems and Autism: Common Cause Discovered

Digestive Problems and Autism: Common Cause Discovered

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Genetic changes in autism are also responsible for digestive problems

Autism is a complex neurological developmental disorder that can occur in many different forms. It has long been known that those affected often have to struggle with digestive problems. A new study has now shown that gene changes in autism are also responsible for disorders of the gastrointestinal tract.

There are still no figures on the frequency of autism in Germany. And the causes of autistic disorders have not yet been clearly clarified, despite extensive research results. However, it is known that autistic people often also have disorders in the gastrointestinal tract. German human geneticists have now discovered that a certain form of autism, as well as digestive problems that occur at the same time, and a disease of the esophagus have a common genetic cause.

Impairment of bowel activity

According to a message from the Heidelberg University Hospital, researchers from Heidelberg, Würzburg and Ulm have shown for the first time in mice that the developmental disorder and the previously neglected digestive problems of the patients can be directly related.

They succeeded in detecting the Foxp1 gene, which is active not only in the brain but also in the digestive tract. Congenital defects at this point in the genome therefore manifest themselves in the occurrence of a so-called autism spectrum disorder, including social deficits, stereotypical behavior and reduced cognitive abilities, as well as - for many of those affected - in impaired bowel function and in a functional disorder the esophagus. Their results were published in the journal "Proceedings of the National Academy of Sciences of the United States of America" ​​(PNAS).

Hope for better treatment

"If this research result can be transferred to humans, this could have an immediate impact on the advice of patients and relatives," said senior author Professor Dr. Gudrun Rappold, Director of the Department of Molecular Human Genetics, Institute of Human Genetics at Heidelberg University Hospital: “The restricted esophageal and intestinal functionality could be countered, for example, with an adapted diet and drug treatment. Above all, it is now clear that the gastrointestinal problem is not only caused - as previously often assumed - by the medication that people have to take or their different eating habits. "

Digestive problems more common in people with autism

As international studies in recent years have shown, diseases of the gastrointestinal tract or digestive problems occur above average in people with an autism spectrum disorder. However, these complaints have not yet been systematically recorded. In addition, due to limited communication and intellectual skills, some people affected can only communicate with difficulty if, for example, swallowing or digestion cause discomfort.

With the so-called FOXP1 syndrome, which is one of the more common autism diseases, gastrointestinal problems are also described in more than half of those affected. The research team led by Gudrun Rappold at the Heidelberg Institute for Human Genetics and Prof. Dr. Andreas Friebe, Physiological Institute of the University of Würzburg, now systematically for the first time on mice with the same genetic defect who develop a disease pattern that is appropriate for humans.

Sphincter at the stomach entrance does not open properly

The animals showed a different feeding behavior and consumed less food and water than mice without this genetic change. The large intestine and esophagus showed a reduced thickness of the muscle layer and the circular muscle at the stomach entrance had a disturbed function, which leads to it not opening properly when swallowing (achalasia). Because the passage of food is thus difficult, this can lead to severe damage and sagging of the esophagus in the long term. In addition, the passage of the intestine was significantly slowed down.

"The achalasia and change in intestinal peristalsis found in the mouse model are most likely the reason for the swallowing and constipation that are common in patients with FOXP1 syndrome," said the study's first author, Dr. Henning Fröhlich. As stated in the release, the Foxp1 gene contains the blueprint of a protein, which in turn controls the activity of numerous other genes. Some of those that have already been identified in the brain are also regulated in the esophagus by Foxp1, the researchers found.

“In fact, the vast majority of genes directly related to autism are active in both the brain and the gastrointestinal tract. It can therefore be assumed that defects in these genes affect both the function of the brain and the intestine. That still has to be clarified, ”explained Prof. Rappold. "Understanding the role of these genes in the development of intestinal dysfunction in autism can also help us in the long term to elucidate the genetic causes of common functional gastrointestinal disorders, in which the communication between the abdomen and the brain is disrupted," added Prof. Beate Niesler, head of department the working group "Genetics of Neurogastroenterological Disorders" at the Institute of Human Genetics. (ad)

Author and source information

This text corresponds to the specifications of the medical literature, medical guidelines and current studies and has been checked by medical doctors.


  • Heidelberg University Hospital: Genetic changes in autism are also responsible for gastrointestinal disorders, (accessed: November 9, 2019), Heidelberg University Hospital
  • Proceedings of the National Academy of Sciences of the United States of America (PNAS): Gastrointestinal dysfunction in autism displayed by altered motility and achalasia in Foxp1 +/- mice, (accessed: November 9, 2019), PNAS

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