Interest in oxytocin as a possible treatment for Schaaf-Yang syndrome (SYS) has been growing in recent years. To help clarify what is currently known, Dr. Christian Schaaf, whose research first identified the MAGEL2 gene changes that cause SYS, shared the following guidance.
“At this point, evidence for the efficacy of intranasal oxytocin among individuals with SYS is very limited,” Dr. Schaaf explains. “It is currently restricted to individual cases who have received oxytocin in a non-blinded, non–placebo-controlled manner, off label.”
That means oxytocin has not yet been proven effective or safe for SYS through clinical trials. However, some physicians and researchers are exploring whether it might offer benefits for specific symptoms.
When Oxytocin May Be Considered
Dr. Schaaf recommends that families interested in oxytocin discuss it directly with a pediatric endocrinologist. In some cases, clinicians may consider off-label use for infants with severe feeding challenges.
“Based on published findings among individuals with PWS (Tauber et al., 2017),” he notes, “some colleagues consider a trial of oxytocin among children with SYS under the age of six months, when they manifest severe feeding difficulties. The goal is to improve feeding skills and to decrease the dependency on tube feedings.”
What Families Have Reported
A few families of older children with SYS who have tried oxytocin report improvements in areas such as eye contact, language, and social engagement. However, Dr. Schaaf cautions that these observations may be due to placebo effects rather than the medication itself. “There is currently no published evidence for oxytocin in SYS,” he emphasizes.
What Research Says So Far
While hypotheses about oxytocin’s potential in SYS have been discussed in the scientific literature (Althammer, Muscatelli, Grinevich & Schaaf, 2022), formal studies are still needed. Researchers continue to explore how oxytocin functions in the brain and whether it could one day play a role in treating certain features of SYS.
The Bottom Line
For now, oxytocin remains an experimental, off-label treatment for SYS. Families considering it should do so only under the guidance of an experienced endocrinologist. As research continues, we will share updates about any new findings or clinical trial opportunities.
