Mother tries to find cause, help others mourn sudden infant death

January 26, 2022 — For most parents, a child’s nap is an opportunity to steal a few moments of tranquility to recharge before the storm of energy to come. Not for Laura Gould.

In 1997, Gould was a young mother working as a physical therapist when her 15-month-old daughter, Maria, died while taking a nap. Despite the fever the night before, Maria seemed well that day and was due to see her pediatrician later in the afternoon. But when Gould tried to wake her, she stopped responding in her crib. There were no signs of distress.

Months of frustration with medical investigators and police investigations left Gould dissatisfied with the cause, which was eventually recorded as sudden unexplained childhood death (SUDC).

“I thought I was really missing something, and I thought I was ruining it as her mother,” she recalled in a recent interview with WebMD. “I couldn’t understand how something could take such a thriving child without leaving any evidence behind.”

While scientists believe that at least some cases of SUDC result from heart problems or seizure disorders, an autopsy revealed that Maria had neither. Gould examined the medical literature and found that sudden infant death syndrome (SIDS) is responsible for approximately 37% of sudden unexplained infant deaths, but is never listed as a cause of death for children over 12 months of age.

Most of the medical literature pertains to SIDS, and “there was no champion for the cause” of SUDC, Gould recalled. Meeting another mother who had similarly lost a child led the two women to approach the CJ Foundation for SIDS with the idea of ​​supporting others, raising funds and creating opportunities for SUDC research.

In 2014, Gould co-founded the newly independent SUDC Foundation. The goals of the nonprofit group include supporting research using data from a voluntary registry of parents and children to explore genetic associations with SUDC, and providing support to families.

She also now serves as a research scientist at the NYU Grossman School of Medicine and the SUDC Registry and Research Collaborative, where her efforts help uncover important new findings about the genetics of the tragic condition.

Most cases of SUDC occur in children ages 1 to 4, and a lack of standardized research systems likely prevents researchers from correctly classifying these deaths.

Compared to SIDS, which affects approximately 1,400 children in the United States each year, approximately 400 children aged 1 and older die from SUDC each year. A major obstacle to studying these cases is that “molecular autopsies,” which use genetic analysis in the investigation of death, typically do not assess genetic information from the parents. As a result, genetic links were more difficult to sort out.

That is changing, thanks in large part to the registry Gould helped create.

In a study published late last year, Gould and her colleagues found that children who died from SUDC were almost 10 times more likely to have mutations in genes linked to heart and seizure disorders as unrelated, healthy children.

“This study is important because SUDC is a much more pressing medical need than most people realize,” said Richard Tsien, PhD, of New York University Langone Medical Center, co-author of the paper. “The detective work comes up with a consistent story: More than half of the genes we found are involved in normal function of the heart and brain.”

In another recent study, which Gould did not co-author, researchers at Boston Children’s Hospital found greater support for the role of genes in SUDC. They looked at 320 infants who had died of SIDS and 32 cases of SUDC and found possible genetic links to the conditions in 11% of the deaths.

The researchers also examined DNA samples from 73 families in the group and found that about 1 in 8 had lost a child to sudden death in at least three generations. In addition, according to the researchers, 41% of the families had a history of fever-related seizures.

Gould notes that only 10% of the children in the Boston study had reached their first birthday, a fact that highlights the relative paucity of research on SUDC, compared to SIDS.

Still, she expressed optimism about the future of SUDC research as the number of families involved and the resulting data grow. Some current avenues of research include pathology research, examining proteins in brain tissue and more genetic studies, she says.

“Much of our success is due to our ability to recruit families and partner with medical research firms,” says Gould.

While families may find the SUDC Foundation or research collaboration at a time of extreme grief and distress, many are willing to join the registry and provide materials. Ultimately, disclosing SUDC will attract families and researchers to pursue this underexposed area, she says.

Overall, about 10% of SUDC cases to date seem to have a convincing genetic explanation, Tsien says. From a clinical standpoint, that information can influence what a doctor or fertility counselor says to parents.

An important conclusion is that most genetic mutations are spontaneous and not inherited from the parents, he says. In other words, the new research shows that parents with a SUDC loss need not be discouraged from having children.

“The more we understand about these conditions, the more information we can provide to families,” Tsien says.

Ultimately, clinicians can use genetics to identify signs of when SUDC is more likely.

“For example, if a child has a very mild seizure, it would alert them that there may be a more drastic outcome,” Tsien says.

“The sudden death of a child makes one so overwhelmed and confused,” Gould says. “Grief is also very isolating, especially for such an unusual tragedy. Connecting with others can help. I would encourage anyone affected by the sudden death of a child – explained or not – to contact for support, contact with others and information about research.”

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