Abstract Details

Title Early Detection of Moyamoya Syndrome in Down Syndrome Using Blood Pressure and Transcranial Doppler Ultrasound

Topic Cerebrovascular Disease and Interventional Neurology

Presentation(s) N2 - Neuroscience in the Clinic: Neurological Care of Individuals with Down Syndrome Across the Lifespan (4:03 PM-4:15 PM)

Poster/Presentation
Number 001

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.

Authors/Disclosures
Mackenzie Silverman, MD PRESENTER	Dr. Silverman has nothing to disclose.
Jonathan Santoro, MD (Department of Neurology, Children's Hospital Los Angeles)	Dr. Santoro has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for UCB. Dr. Santoro has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Cycle Pharma. Dr. Santoro has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Dianthus. Dr. Santoro has received personal compensation in the range of $500-$4,999 for serving as a Consultant for National Down Syndrome Society.
Benjamin Vogel	Benjamin Vogel has nothing to disclose.
Bryan T. Lei, MS	Mr. Lei has nothing to disclose.
Sarah Lee, MD (Stanford Stroke Center)	Dr. Lee has nothing to disclose.
Elizabeth Mayne, MD (Stanford Child Neurology)	Dr. Mayne has received research support from NINDS-CNCDP K12.
Lilia Kazerooni, BS	Miss Kazerooni has nothing to disclose.
Maeve C. Lucas, BS	Ms. Lucas has nothing to disclose.
Mariam M. Yousuf, BS	Miss Yousuf has nothing to disclose.
Samuel T. Otey, BS	Mr. Otey has nothing to disclose.
Deepti Nagesh, MBBS (Children's Hospital of Los Angeles)	Dr. Nagesh has nothing to disclose.
Tena Rosser, MD (Childrens Hospital Los Angeles)	Dr. Rosser has received publishing royalties from a publication relating to health care. Dr. Rosser has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant with Children's Tumor Foundation. Dr. Rosser has received personal compensation in the range of $500-$4,999 for serving as a Speaker/consultant with Springworks Therapeutics.
Eileen Quinn, MD	Dr. Quinn has nothing to disclose.
Brian Skotko, MD, MPP	Dr. Skotko has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Gerson Lehrman Group. Dr. Skotko has received personal compensation in the range of $0-$499 for serving as an officer or member of the Board of Directors for Massachusetts Down Syndrome Congress. Dr. Skotko has received personal compensation in the range of $0-$499 for serving as an officer or member of the Board of Directors for National Center for Prenatal and Postnatal Down Syndrome Resources. Dr. Skotko has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Legal groups. An immediate family member of Dr. Skotko has stock in Yext. An immediate family member of Dr. Skotko has stock in Snowflake. The institution of Dr. Skotko has received research support from NIH. The institution of Dr. Skotko has received research support from PCORI. The institution of Dr. Skotko has received research support from LuMind IDSC Down Syndrome Foundation. Dr. Skotko has received publishing royalties from a publication relating to health care.
Kevin V. Lemley, MD, PhD	Prof. Lemley has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for International Pediatric Nephrology Association. Prof. Lemley has received personal compensation in the range of $0-$499 for serving as a Webinar participant with National Institutes of Health/NIDDK.
Pat R. Levitt, MD (Children's Hospital Los Angeles)	Dr. Levitt has received personal compensation in the range of $500-$4,999 for serving as an officer or member of the Board of Directors for Independent Citizens Oversite Committee - California Institute for Regenerative Medicine. Dr. Levitt has received personal compensation in the range of $500-$4,999 for serving as an officer or member of the Board of Directors for Lieber Institute for Brain Development. The institution of Dr. Levitt has received research support from NIH. The institution of Dr. Levitt has received research support from NSF.
Michael S. Rafii, MD, PhD (USC Alzheimer'S Therapeutic Research Institute)	Dr. Rafii has received personal compensation in the range of $500-$4,999 for serving as a Consultant for AC Immune. Dr. Rafii has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Keystone Bio. Dr. Rafii has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alzheon.

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