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Genetic Analysis May Help Diagnose, Treat Kids With Mysterious Developmental Delays

Genetic analysis makes another mark in disease prevention and treatment, as Canadian researchers discovered how it may help probe the cause of certain developmental disabilities in kids which continue to puzzle experts.

In new findings, scientists from the BC Children’s Hospital and the University of British Columbia were able to diagnose 68 percent of the 41 families in their research with a precise and underlying genetic condition, as well as offer targeted treatments to over 40 percent of the cases.

Furthermore, they identified 11 new disease genes and described new symptoms linked to a number of known conditions.

“[F]or a subset of patients we can identify the genetic underpinning of their intellectual disability and then determine the right intervention,” said study lead author and pediatrician Dr. Clara van Karnebeek.

The genetic analysis is seen to lead scientists to better clinical practice and outcomes for “a small yet meaningful” percentage of the kids, teaching them more about the patients’ brain function and the underlying mechanisms of their intellectual impairment.

The team of van Karnebeek focused on child patients inflicted with developmental delays, which are likely tied to metabolic problems but had not been detected by conventional methods. These rare genetic illnesses can lead to an energy deficit and toxic buildup in the brain and body, resulting in neurodevelopmental delays and diseases.

Using traditional blood and urine testing, the researchers discovered that the children did not qualify for any of the known conditions.

They then performed whole exome sequencing, analyzing the children’s exome or the part of their genetic design guiding coding for proteins that are important for normal body functioning.

For instance, the researchers found a new genetic condition called carbonic anhydrase, a deficiency during early childhood marked by dangerous sleepiness and coma due to hyperammonemia. The drug carglumic acid can prevent brain damage from striking kids with this condition.

A new metabolic condition affecting the brain and characterized by a small head, seizures, and developmental delays can also be treated by amino acid serine and vitamin B6, they added.

The 15-year-old son of Michelle Gentis was among the study participants. The child’s disability, which was largely mysterious to the family until recently, prevented the young Joshua from speaking and caused balance and motor function problems.

“At that point he couldn’t sit up, and I began to wonder, what’s going on?” she told CTV News.

For van Karnebeek, there was noticeable improvement in the conditions of patients like Joshua, proving to be quite encouraging.

U.S. nonprofit group March of Dimes chief medical officer Dr. Edward McCabe dubbed it “impressive investigation,” highlighting that gene sequencing is becoming more and more affordable and thus helpful in identifying the roots of these disorders.

The U.S. National Institutes of Health also recently launched an Undiagnosed Diseases Program, which is targeting the use of similar genetic analysis in the case of difficult-to-diagnose ailments. The program will build a medical center network that will focus on thorough genetic investigation.

The findings were published May 25 in the New England Journal of Medicine.

Photo: Lance Neilson | Flickr

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