Natural history study reveals insights into Smith-Lemli-Opitz syndrome
A recent presentation by Dr Samar Rahhal, a pediatric endocrinologist affiliated with the National Institutes of Health, shed light on the intricacies of Smith-Lemli-Opitz syndrome (SLOS), offering valuable information about the condition’s progression and challenges faced by affected individuals.
During the presentation at the 2023 SLOS Family Medical Conference, Dr Rahhal shared preliminary findings from a study conducted at the National Institutes of Health (NIH) on the natural history of SLOS, including how symptoms evolve over time and what long-term health challenges individuals may face.
The research indicates that many adults with SLOS are able to sustain their nutritional needs orally, often an improvement from earlier stages of life. However, behavioral and psychiatric issues remain challenging for both individuals and their families. Walking difficulties, self-care limitations, and anxiety were also observed among the participants.
Regarding long-term survival rates, Dr Rahhal said the study found a 17% mortality rate among the cohort. Age of death did not appear to be directly correlated with the severity of the syndrome, although there were lower cholesterol levels in individuals who passed away compared to those still alive.
The study continues to gather data to better understand the medical history of young adults with SLOS and aims to describe the medical history of deceased individuals in more detail.
Rahhal S. National Institute of Health Natural History Study. Presented at: 2023 SLOS Family Medical Conference