Researchers uncovered a genetic malfunction, that according to them, activated epilepsy and intellectual disability alongside autism. The relationship between autism and epilepsy is standard yet complicated. The increased occurrence of epilepsy in ASD has been termed as being a “comorbidity” of the other.
Every gene holds a definite place on a chromosome. Genes provide instructions for making proteins, and proteins govern the function and structure of each cell in the body. Hence, these genes are responsible for all the characteristics a person inherits. An error during cell division causes abnormality in the chromosomes that lead to physical as well as a neurological disorder.
The sharp eyes of a Belgian doctor noticed the tight muscles and lack of language in Abigail who was just 19 months old. She asked her mother Gillian about her syndrome. Gillian was unaware of her daughter’s condition.
In 2013, under Dr. Meena Balasubramanian, Abigail was enrolled in Deciphering Developmental Disorders to detect the cause of her undiagnosed genetic conditions. The study revealed that she had a spontaneous mutation in an epilepsy gene called HNRNPU. This alteration in the gene emerged as autism associated with a neurodevelopmental syndrome.
The high rates of individuals with ASD, having no single type of epilepsy, is due to the heterogeneity and cognitive function in them. Some of the behaviours associated with autism and epilepsy include regression of skills like language and social functions and the most important risk feature being the overall cognitive function.
Dr. Balasubramanian’s findings suggest that mutations in HNRNPU gene lead to a condition characterized by distinctive facial features, seizures, intellectual disability, and often with autism.
The possibility about the link between epilepsy and autism developed an interest in Evan Eichler and his colleagues at the University of Washington, Seattle. They assembled data from more than 11,000 individuals with neurodevelopmental conditions. They noticed that 11 people were detected with mutations in their HNRNPU and 8 of the individuals were also identified by the DDD. Eichler’s team found three new individuals with mutations in the gene.
According to the published studies, 5 out of 25 people with an HNRNPU appear to have autism features. They are also investigating how the mutations could contribute to autism.
A genetic disorder is one of the causes of high infant mortality. This condition can be passed on to a child if both the parents have a faulty gene or “carriers” of a disorder. Genetic disorders are not curable but can be prevented.