Sudden death of children: it could have genetic causes

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Philippe Gloaguen
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Sids genetic causes

One of the great terrors of every parent is cot death, that is, that event that cannot be predicted because it affects infants in particular but not only in completely unexpected moments: one morning the baby is checked and no longer breathes. A recent study appears to link Sids, genetic causes and mutations. 





In this article

  • What is Sudden Death in Babies
  • A mutation at the origin of cot death
  • A change in the calcium in the neurons could cause SIDS
  • Avoid cot death

What is Sudden Death in Babies

For infants under one year of life we ​​speak of Sids (Sudden Infant Death Syndrome), also called cot death, while for the older ones we talk about Sudc (Sudden Unexplained Death in Childhood): la unexpected death it is one of the greatest fears of parents. To date, unfortunately, the certain causes are not yet known, although studies seem to have confirmed that some conditions - sleeping in the bed, sleeping on your stomach, sleeping in an unhealthy room - they favor it. However, new research seems to investigate its origin.



A mutation at the origin of cot death

Researchers from New York University's Grossman School of Medicine conducted one study out of 124 cases of Sudc, sequencing the dna of the children who died suddenly and their parents. What is known is that cot death is probably associated with phenomena heart o convulsive, for this reason, the 137 genes connected to them were analyzed. Research has shown that these genes contain many more mutations of how many there should be, and that these mutations are not present in the parents (only in 20% of them). 



A change in the calcium in the neurons could cause SIDS

In particular, they have been identified 11 particular mutations that could contribute to cot death in at least 11% of cases. These are mutations in the genes that regulate calcium in neurons and heart muscle cells, which are responsible for nerve signal transmission and muscle contraction, thus leading to problems cardiac. 

Other mutations lead to Timothy syndrome, a rare disorder that can affect the heart, limbs, muscles and brain. 

Avoid cot death

It is not possible to be entirely exempt from risk when it comes to sudden infant death, but good rules can be put into practice to minimize the likelihood of it happening. 

Here are expert tips for preventing SIDS.

  • make the baby sleep on his stomach
  • make him sleep in his parents' room
  • do not expose it to smoke
  • keep the temperature of the room in which he sleeps at 20 degrees
  • don't cover it too much
  • choose a solid mattress of the right size
  • avoid objects in the bed, pillows, bumpers
  • breastfeed him
  • don't let him sleep in "makeshift" places
  • pacifier use can protect

This recent study opens up new scenarios on prevention of cot death, but more research will need to be done on a larger scale to understand whether there are really any underlying causes of sudden infant and child death. genetic mutations that compromise the functioning of the heart. 

SOURCES

De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca 2+ regulation 

TAG:
  • sids
  • cot death
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