Early Detection of Moyamoya Syndrome in Down Syndrome Using Blood Pressure and Transcranial Doppler Ultrasound
Jonathan Santoro1, Mackenzie Silverman2, Benjamin Vogel2, Bryan Lei2, Sarah Lee3, Elizabeth Mayne4, Lilia Kazerooni2, Maeve Lucas2, Mariam Yousuf2, Samuel Otey2, Deepti Nagesh2, Tena Rosser5, Eileen Quinn6, Brian Skotko7, Kevin Lemley2, Pat Levitt2, Michael Rafii8
1Department of Neurology, Children's Hospital Los Angeles, 2Children's Hospital Los Angeles, 3Stanford Stroke Center, 4Stanford Child Neurology, 5Childrens Hospital Los Angeles, 6University of Toledo, 7Massachusetts General Hospital, 8USC Alzheimer'S Therapeutic Research Institute
Objective:
To evaluate a non-invasive screening protocol integrating serial blood pressure (BP) measurements and transcranial Doppler (TCD) ultrasonography to identify presymptomatic cerebrovascular disease in children and young adults with Down syndrome (DS).
Background:
Individuals with DS are at increased risk for moyamoya syndrome (MMS), a progressive cerebrovascular disease that can lead to stroke. Current cerebrovascular screening relies on neuroimaging modalities that are costly, often require sedation, and are not universally accessible.
Design/Methods:
In this prospective cohort study, 793 individuals with DS aged 8–26 years were recruited from clinical and community settings. BP percentiles were determined and compared with NHANES reference data. Participants with BP ≥65th percentile and a matched subgroup of DS subjects with BP < 65th percentile advanced to TCD screening advanced to TCD screening. TCD measures included mean cerebral blood flow velocities (CBFVs) in the middle cerebral artery (MCA) and internal carotid artery (ICA), followed by confirmatory brain MRI/MRA to evaluate for MMS.
Results:
Compared to NHANES peers, participants with DS had significantly lower mean systolic BP percentiles (mean 43.9 vs 54.7; p < 0.001). Among 111 individuals with DS undergoing TCD, those in the high BP group had significantly higher mean MCA velocities the normal BP group (right: 74.3 vs 64.3 cm/s, p = 0.010; left: 76.8 vs 67.0 cm/s, p = 0.013). Four asymptomatic participants (3.6%) were diagnosed with MMS on confirmatory imaging, all presenting with elevated SBP and CBFVs. All patients identified as having MMS were managed surgically with no associated pre-operative or perioperative stroke.
Conclusions:
Children and young adults with DS exhibit distinct BP profiles and may benefit from individualized BP thresholds for disease surveillance. The use of serial BP monitoring and TCD represents a non-invasive strategy to identify MMS before stroke. Early identification using this strategy may enable timely interventions to mitigate stroke risk in this vulnerable population.
Disclaimer: Abstracts were not reviewed by Neurology® and do not reflect the views of Neurology® editors or staff.