New research highlights survival trends in SLOS: Many survive into adulthood despite high mortality risk in severe cases

Although Smith-Lemli-Opitz syndrome (SLOS) is associated with a high risk of premature death, especially in severe cases, many individuals with the condition can live into adulthood, according to a new study. The study also emphasizes that the risk of postnatal mortality is linked to the severity of the disorder and lower initial cholesterol levels.

Researchers analyzed death certificates from the National Death Index for individuals with SLOS enrolled in NIH Clinical Center studies (NCT00001721 and NCT05047354). The study included 107 individuals with biochemically or genetically confirmed SLOS. Of these, 17 individuals (15.8%) were confirmed to have died.

The study found that individuals who died from SLOS had higher severity scores compared to those who were still alive. However, there was no link between age at death and severity score. The research produced the first survival curve for SLOS, indicating that affected individuals generally have a normal lifespan, with a 75% chance of living beyond 35 years. Due to the younger age of the cohort, survival beyond this age could not be evaluated. In addition, while the deceased cohort had lower average cholesterol levels compared to the living cohort, there was no significant difference in 7-DHC levels between the 2 groups.

Reference
Selvaraman A, Rahhal S, Bianconi S, et al. Assessing Postnatal Mortality in Smith-Lemli-Opitz Syndrome. Am J Med Genet A. 2024 Sep 13:e63875. doi: 10.1002/ajmg.a.63875. Epub ahead of print. PMID: 39271956.