New children’s brain disorder discovered: ‘Developmental delay & severe epilepsy’

MELBOURNE, Australia — As the human brain continues to evolve, sadly, so do new ailments and conditions that hamper its ability to function. To that end, Australian scientists are revealing their recent discovery of a new, particularly nasty neurodegenerative disorder in children.

Characterized by developmental delay and severe epilepsy within the first year of one’s life, the disorder was uncovered by the Murdoch Children’s Research Institute in Melbourne. It’s believed to be caused by a gene variation that initiates a “severe childhood-onset neurodegenerative disorder.” Researchers say nothing like this has ever been found or described in medical texts.

According to the study’s authors, the underlying chronic neuro-inflammation behind the new disorder is quite different than the inflammation associated with more well known conditions such as Parkinson’s, Alzheimer’s, and frontotemporal dementia.

Examined patients started off with relatively mild or normal developmental delay, as well as seizures before their first birthday. That developmental regression, however, worsened and became more severe as seizures continued.

In all, six children from four families were analyzed. All of those families housed a specific variant of a gene (NRRS) already associated with a similar degenerative condition. These discoveries were made using genomic testing. That testing was conducted in not only Australia, but also Italy and the United States at Baylor College of Medicine.

MCRI and Victorian Clinical Genetics Services (VCGS) Associate Professor Sue White says that in order for this new troubling disorder to appear in a newborn, both parents must carry one “altered copy” of that gene. Two copies of the gene variation appear to be necessary for the disorder to manifest.

“In our study the same gene variant was identified in three children of the same ethnic background,” White explains in a release. “While the families do not report that their two families are directly related, they are presumed to be distantly related due to the overlap of their family histories, with common ancestors originating from the same town.”

Advanced molecular techniques were used to track the cellular pathway influenced by this mutated gene. Then, further lab tests helped the research team identify a variety of molecules that the mutated gene appears to influence. Many of those molecules are essential to brain cell functions such as nerve fibre insulation and the production of brain immune cells.

“In line with these laboratory findings, our study participants had neurodegenerative symptoms with difficult to control epilepsy, developmental regression, and delayed myelination,” White adds. “The myelination process is vitally important to healthy central nervous system functioning, enabling nerve cells to transmit information faster and allows for more complex brain processes.”

There’s still a whole lot we don’t know or understand about the disorder, but the study’s authors say that the discoveries they’ve made will already help a number of new parents understand what’s happening with their child.

“Now that we know the causative gene, we are in a better position to understand the underlying biology behind the disorder, which we hope in future may translate to targeted treatments specific for the disorder,” concludes MCRI Professor John Christodoulou.

The study is published in the American Journal of Human Genetics.

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