In a retrospective cohort study published in Stroke, Jonathan D. Santoro, MD, of Children’s Hospital in Los Angeles, California, and colleagues, compared data from 198 children with DS–associated moyamoya syndrome (DS-MMS; n=77) and MMS without DS (n=121).
The primary outcome was stroke as the primary presenting symptom. This was more common in DS-MMS (71.4% versus 20.7%; absolute difference, 50.8%), with an adjusted odds ratio (aOR) of 14.50; P<0.001.
Secondary outcomes included diagnostic delays, angiographic features, prediagnostic systolic blood pressure percentiles, and 1-year neurological outcomes. Results showed greater diagnostic delay in children with DS-MMS, both from symptom onset to presentation and from presentation to diagnostic confirmation (both P<0.001). Posterior circulation involvement was also more common in children with DS-MMS (aOR, 2.18; P=0.03), though angiographic severity was similar between groups.
When evaluating prediagnostic systolic blood pressure, blood pressure elevation was significantly higher in the DS-MMS group at 12 months (P=0.001) and 6 months (P<0.001), but not at 24 months (P=0.15) or 18 months (P=0.10). DS-MMS was also associated with worse 1-year neurological outcomes, including greater disability (adjusted odds ratio, 2.58; P<0.001) and spasticity (aOR, 6.33; P<0.001).
Overall, results indicate that DS-MMS is a high-risk phenotype linked with delayed recognition and greater likelihood of stroke at presentation. As the authors note, these findings support targeted early detection strategies for children with DS-MMS to address the overall worse outcomes experienced by this population.