Genetic Cause of SIDS?

A new study published in the medical journal Lancet has found that in some cases of SIDS – or sudden infant death syndrome – there may be genetic reasons behind the unexplained child fatalities. SIDS is one of the leading causes of infant death in the United States. If researchers and doctors are able to find clues as to what makes infants more at-risk for the deadly syndrome, hundreds of childrens’ lives could be saved.

Infant mortality is the death of a child before his or her first birthday. Sudden infant death syndrome falls under the larger umbrella term SUID, which refers to all sudden and unexpected infant deaths that occur. Sudden and unexpected infant deaths are typically the result of SIDS, unknown causes or accidental suffocation or strangling in the bed or crib area. According to the Centers for Disease Control and Prevention (CDC), approximately 1,900 infants die every year from SIDS alone.

Researchers determined that in a number of SIDS cases they analyzed the deceased infants actually had a rare genetic mutation. This genetic mutation affects a person’s respiratory muscle function. Normally, when someone’s oxygen levels drop to dangerously low levels – which is a condition also known as hypoxemia – a sodium channel in their body works to initiate muscle contractions to pump it through the bloodstream. The genetic mutation inhibits this ability, making it difficult for children who have it to regulate safe oxygen levels.

The researchers behind the study as well as neurologists and other kinds of doctors around the country believe that the numbers indicate there is a very strong link between the genetic mutation and a higher incidence of SIDS. Because the mutation is a genetic one, adults can also have it. The mutation affects the SCN4A gene and it typically causes excessive muscle stiffness, weakness or the inability to relax the muscles in adults. In children however, the physical effects of the gene mutation can be deadly because of low oxygen levels, like in instances of SIDS. If it becomes protocol for parents and prospective parents to get screened for the mutation, it would make room for doctors to provide risk-specific counseling.

Not only can this new data help to form a more comprehensive understanding of SIDS, but it could also pave way for future investigations that reveal more information about this often mysterious and lethal syndrome. Infants (and adults) have more than one respiratory system channel responsible for regulating oxygen flow by way of muscle contractions – in fact, researchers estimate that there are somewhere around 100 altogether. Assessing mutations across other respiratory channels would be a meaningful and possibly lifesaving next step for medical researchers to take in determining the range of effects the mutations can have on a child’s health.

Aside from the obvious, there are a few other key reasons why it’s important for doctors to know whether or not these genetic mutations play a major role in the incidence rate of sudden infant death syndrome. There are various forms of medical treatments, such as some medications, that can help quell the side effects of some of the associated disorders. If a doctor is able to determine that an infant is at higher risk for SIDS, preventive management techniques can – and should – come into play. It’s also important for parents or caregivers to be made aware that their child is at-risk so they can be vigilant about ensuring sleep safety.

Sleep safety is essential for preventing SIDS. The National Institutes of Health (NIH) lead “The Safe to Sleep” campaign, which aims to lower an infant’s overall risk for dying from SIDS. The NIH recommends that all caregivers learn about the Safe to Sleep campaign and how to safely maintain an infant’s sleeping or crib area. Some of the institutes’ main tips on safe sleep are:

• Don’t smoke or let anyone else smoke around the infant – it’s advisable not to smoke inside the home or apartment with an infant at all;
• Don’t use pillows, blankets, crib bumpers, sheepskins, etc. in the baby’s sleep area;
• Make sure the baby’s head isn’t covered by anything;
• Always place the baby on his or her back, and:
• If possible, share your room with the baby – keep the baby on a separate surface but close by

If you have children or care for children, it’s important to be educated on how to keep them safe.

When scientists and doctors first confirmed that putting a baby on his or her back to sleep was far safer than on the stomach, the rate of SIDS-related infant deaths decreased by as much as 60%. In light of this recent study’s findings, it appears hopeful that researchers will continue to uncover new lifesaving information to combat infant deaths. By continuing with these meaningful investigations, medical professionals can reduce the number of families whose lives are devastated by the tragic loss of infant loved ones.

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