Genetics, Key to Developmental Delays


Genetics, Key to Developmental Delays

Researchers from Canada discovered they could predict 68% of the developmental delays in children by analyzing the genetic material of the parents. They also identified 11 genes that encoded disease risks and separated some symptoms connected to various medical troubles.

The lead author of the study said they were able to determine the genetic conditions related to the intellectual ability of more than half of the 41 families involved in the research. The scientists were also able to offer treatments to 40% of the cases.

“This research is very encouraging because for a subset of patients we can identify the genetic underpinning of their intellectual disability and then determine the right intervention. There’s a bright future ahead of personalized medicine informed by genetic diagnosis,” said Clara van Karnebeek, M.D., Ph.D., author of the research.

The analysis of genetics has proven to help doctors to undertake better clinical practices and to obtain superior results. The studies brought more information on brain functioning and implications of the intellectual impairment.

The study took into consideration children with development delays caused by rare genetic illnesses. Patients had an energy deficit and were prone to buildup toxins in the brain and the rest of the body, which made them vulnerable to neurodevelopmental risks and other diseases.

Blood and urine tests showed that children did not have any of the known conditions. Thus, researchers looked into the genetic design code for proteins vital to normal functioning.

One of the findings was that carglumic acid can help fight against hyperammonemia, the elevated level of ammonia in the blood. This dysfunction can cause sleepiness and coma in infancy.

They also discovered that another neurological condition involving seizures and developmental delays can be cured by vitamin B6 and amino acid serine.

Another success of this study is that the team managed to ease the condition of a 15 years old boy that was unable to speak and had problems with motor functions and balance.

Gene sequencing has become more affordable. Therefore there are many hopes that it will be continuously used in researches similar to the present one. A similar US program targets to use genetics to diagnose rare ailments.

Appropriate medication can stop or at least slow down the decaying processes. Therefore, early detection and intervention can bring permanent improvements for children and their families.

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