Breathing mutation linked to sudden infant death, study finds

SIDS experts say it’s a hopeful finding.

“Every time we identify one of these risks, we identify a possible cause and that allows us to identify more babies at risk and provide solutions that might help them,” said Dr. Joel L. Bass, chair of the department of pediatrics at the Newton Wellesley Hospital and professor of pediatrics at Harvard Medical School.

About 3,500 babies in the United States die suddenly and unexpectedly each year, according to the Centers for Disease Control and Prevention.

Causes of SIDS, increasingly referred to as Sudden Unexplained Infant Death (SUID), may include brain abnormalities or accidental suffocation. The inability of babies to regulate their breathing is thought to be another cause. A third of SUID deaths are unexplained.

While there are treatments for children and adults with genetic neuromuscular disorders caused by the SCN4A gene mutations, “it is unclear whether these treatments would reduce the risk of sudden infant death syndrome,” said Hanna.

The researchers did not recommend routine genetic testing for the mutation.

“The authors note that these are rare genetic mutations, however we know that SUID is not a rare event, unfortunately,” said Dr. Lori B. Feldman-Winter, professor of pediatrics at the Cooper Medical School of Rowan University in Camden, New Jersey. “So we need to continue to push the envelope of research to identify and understand the causes of SUID.”

Because the study included only Caucasian babies of European ancestry, Feldman-Winter noted that it’s difficult to generalize the results. “But it is a reminder that more research needs to be done to identify causes that we can prevent,” she said.

While SUID is a frightening possibility, an individual baby’s risk is low.

To protect babies under age 1, the American Academy of Pediatrics recommendations include:

• Supine positioning, or putting babies to sleep on their back
• A firm sleep surface
• Sharing a room with parents, but not bed-sharing
• Breastfeeding
• Use of a pacifier at nap time and bedtime
• Daily supervised, awake tummy time

Parents are also advised to remove infants from car seats, strollers, swings, infant carriers, and infant slings if they fall asleep in them to reduce the risk for gastroesophageal reflux and positional plagiocephaly, or flattening of the head.

“A baby should be sleeping on their back, that’s really important for parents to remember,” said Feldman-Winter. “Mothers should also be encouraged to breastfeed for at least 6 months and avoid smoking during and after pregnancy.”

By identifying possible genetic links to SIDS, future deaths may be prevented, Bass said.

“SIDS is a silent, lonely tragedy,” said Bass. “If there’s any hope for families, it’s that the loss of their child might lead to more research that can help prevent the loss of another child.”