Blood pressure and transcranial ultrasound predict moyamoya vasculopathy in Down syndrome
Jonathan D. Santoro, Mackenzie Silverman, Benjamin N. Vogel, Bryan T. Lei, Ramon Durazo‐Arvizu, Sarah Lee, Elizabeth W. Mayne, Brian G. Skotko, Pat Levitt, Michael S. RafiiAbstract
Aim
To evaluate the feasibility of a stepwise, non‐invasive screening framework integrating blood pressure measurement with transcranial Doppler ultrasonography.
Method
In this prospective single‐site cohort study, 793 individuals with Down syndrome aged 8 to 26 years underwent standardized blood pressure assessment. Comparisons with National Health and Nutrition Examination Survey 2017–2018 were restricted to participants aged 8 years to younger than 18 years and performed using survey‐weighted regression. A smaller cohort of 111 participants underwent repeat blood pressure assessment, awake transcranial Doppler ultrasonography, and confirmatory magnetic resonance imaging/angiography.
Results
Among 988 screened participants, 793 were enrolled (mean age 16 years 7 months [SD 4 years 6 months]; 414 females, 378 males, and one participant of unknown sex). Mean systolic blood pressure centile was 44.7 in Down syndrome and 42.6 in the comparison cohort (difference 2.07 points, 95% confidence interval [CI] −1.12 to 5.26; p = 0.200). Diastolic blood pressure centile was higher in Down syndrome (difference 12.21 points, 95% CI 8.88–15.53; p < 0.001). Of the 111 participants who completed transcranial Doppler ultrasonography, 10 required repeat acquisition. Higher blood pressure was associated with higher mean middle cerebral artery velocity (75.5 vs 65.7 cm/s; p = 0.006). Imaging identified asymptomatic moyamoya syndrome in four participants.
Interpretation
A stepwise approach incorporating blood pressure and transcranial Doppler ultrasonography is feasible for cerebrovascular surveillance in Down syndrome. These findings support development of scalable screening strategies and warrant multicenter validation.