The sudden and unexpected death of a child
is a tragedy made all the worse when there’s absolutely no explanation.

Each year in the United States, hundreds of children die for
undetermined reasons, usually in their sleep or while resting. Due to the
way deaths are investigated and certified, it’s hard to say how often this
occurs. By some
estimates
, several hundred children aged between 1 and 18 die
suddenly from unexplained causes each year.

When the child is younger than 12 months, it’s known as sudden
infant death syndrome (SIDS). According to the CDC, 1,250 such deaths qualified in 2019 –
roughly three times the number of sudden unexplained deaths in children (SUDC).

SIDS causes three times as many deaths as SUDC, yet receives 20 times the
amount
 of research funding.

Laura Gould has been working for decades to change that. After
losing her 15-month-year old in 1997, she co-founded the SUDC Registry and
Research Collaborative (SUDCRRC) with a neurologist from New York University.

Using the database to compare 124 molecular autopsy results with
genetic data from the parents, researchers have now revealed a potential cause
for some instances of SUDC.

In nearly a dozen cases, researchers identified eight gene
variants linked to epilepsy, heart arrhythmias, and neurodevelopmental
disorders.

Six of the gene variants are known to be involved in calcium
signaling, which is what allows the heart muscle to contract and neurons to
fire off messages.

In most cases, the parents of the deceased children did not show
the same mutations, which means they were not passed down but randomly derived.

The chance of a parent having two children with the same deadly
variant is unlikely, the researchers say.

“Our study is the largest of its kind to date, the first to
prove that there are definite genetic causes of SUDC, and the first to fill in
any portion of the risk picture,” says neuroscientist Richard Tsien from NYU.

“Along with providing comfort to parents, new findings about
genetic changes involved will accumulate with time, reveal the mechanisms
responsible, and serve as the basis for new treatment approaches.”

The study looked specifically for 137 genetic variants that are
linked to cardiac and epilepsy issues, as this seems to be what causes most
cases of SUDC.

Compared to the general population, these variants were ten times
more likely to show up among cases of SUDC.

But there are likely other explanations out there. The genetic
variants identified in the current study were only found in 9 percent of the
cohort; more work will need to be done to figure out what causes the majority
of SUDC cases.

A second study, conducted by the same team of researchers, dug
into the data further. This time, they were looking for 294 potentially deadly
genetic variants in 352 SUDC cases.

Among a subset of 73 cases, where parental data were also
available, the authors found 37 gene variants that are likely related to
neurological, cardiac, or systemic diseases.

The researchers note that the presence of pathogenic gene variants
“does not in itself establish causality”, but their findings are a
highly promising start for not only providing better diagnosis and peace of
mind for bereaved parents, but potentially identifying risk factors that lead
to SUDC before tragedy strikes.

“Along with providing comfort to parents, new findings about
genetic changes involved will accumulate with time, reveal the mechanisms
responsible, and serve as the basis for new treatment approaches,” says Tsien.

 



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2022-02-24

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