Blood Pressure Elevation and Risk of Moyamoya Syndrome in Patients With Trisomy 21

Santoro, Jonathan D.; Lee, Sarah; Mlynash, Michael; Nguyễn, Thủy; Lazzareschi, Daniel; Kraler, Lironn; Mayne, Elizabeth W.

doi:10.1542/peds.2018-0840

Cited by 22 publications

(18 citation statements)

References 24 publications

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“…Moyamoya disease may also occur in people with DS [152] and contributes to increased stroke risk over the lifespan, particularly with those who have blood pressure in a higher, but normal range [153].…”

Section: Heart and Vascularmentioning

confidence: 99%

“…The Ts65Dn mouse model also demonstrates reduced blood pressure and heart rate variability alterations from wild-type mice, suggesting this model could be used to explore mechanistic changes in cardiovascular function across the lifespan in DS [ 151 ]. Moyamoya disease may also occur in people with DS [ 152 ] and contributes to increased stroke risk over the lifespan, particularly with those who have blood pressure in a higher, but normal range [ 153 ].…”

Section: Heart and Vascularmentioning

confidence: 99%

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Opportunities, barriers, and recommendations in Down syndrome research

Hendrix¹,

Amon

Abbeduto

et al. 2021

TRD

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BACKGROUND: Recent advances in medical care have increased life expectancy and improved the quality of life for people with Down syndrome (DS). These advances are the result of both pre-clinical and clinical research but much about DS is still poorly understood. In 2020, the NIH announced their plan to update their DS research plan and requested input from the scientific and advocacy community. OBJECTIVE: The National Down Syndrome Society (NDSS) and the LuMind IDSC Foundation worked together with scientific and medical experts to develop recommendations for the NIH research plan. METHODS: NDSS and LuMind IDSC assembled over 50 experts across multiple disciplines and organized them in eleven working groups focused on specific issues for people with DS. RESULTS: This review article summarizes the research gaps and recommendations that have the potential to improve the health and quality of life for people with DS within the next decade. CONCLUSIONS: This review highlights many of the scientific gaps that exist in DS research. Based on these gaps, a multidisciplinary group of DS experts has made recommendations to advance DS research. This paper may also aid policymakers and the DS community to build a comprehensive national DS research strategy.

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Section: Heart and Vascularmentioning

confidence: 99%

Section: Heart and Vascularmentioning

confidence: 99%

Opportunities, barriers, and recommendations in Down syndrome research

Hendrix¹,

Amon

Abbeduto

et al. 2021

TRD

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“…10 Hypertension, in general, is a risk factor and, in fact, in patients with trisomy 21 (Down syndrome), elevation in blood pressure may even precede the development of moyamoya syndrome. 11,12 The prevalence of moyamoya syndrome in NF-1 is only about 0.6%, and the clinical spectrum ranges from entirely asymptomatic to significantly symptomatic patients. 13 Moyamoya disease has a bimodal age of presentation, with the first peak occurring in children under 10 years and a second peak occurring in the fourth to fifth decade, with an overall female predominance.…”

Section: Clinical Presentation and Diagnosismentioning

confidence: 99%

Surgery for Moyamoya Disease in Children

et al. 2019

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Moyamoya disease is a chronic progressive cerebrovascular occlusive disease of the terminal portion of the internal carotid arteries associated with an acquired abnormal vascular network at the base of the brain, often leading to ischemic or hemorrhagic stroke. Moyamoya disease is a relatively common cause of pediatric stroke with a specific racial and well-identified clinical and imaging phenotype. Moyamoya disease is more prevalent in East Asian countries compared with other geographic regions with a higher incidence of familial cases and clinically more aggressive form. Moyamoya disease is one of the few causes of stroke that is amenable to effective surgical revascularization treatment. There are various surgical options available for revascularization, including the direct, indirect, or combined bypass techniques, each with variable responses. However, due to the heterogeneity of the diseases, different clinical course, geographical variables associated with the disease, and availability of a wide variety of surgical revascularization procedures, optimal selection of a surgical candidate and the surgical technique becomes challenging, particularly in the pediatric population. This brief review presents pertinent literature of clinical options for the diagnosis and surgical treatment of moyamoya disease in children.

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“…There is a well-established association between Down syndrome (DS) and the development of moyamoya syndrome (MMS) (7,15,16) with particularly high rates in children (17). Higher rates of both autoimmune disease and thyroid autoantibodies in this population raise additional concerns that these factors may yield a greater risk of the development of MMS although this has never been studied (18)(19)(20)(21)(22)(23)(24).…”

Section: Introductionmentioning

confidence: 99%

Increased Autoimmunity in Individuals With Down Syndrome and Moyamoya Disease

et al. 2021

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Objective: To determine if elevated rates of autoimmune disease are present in children with both Down syndrome and moyamoya disease given the high rates of autoimmune disease reported in both conditions and unknown etiology of angiopathy in this population.Methods: A multi-center retrospective case-control study of children with Down syndrome and moyamoya syndrome, idiopathic moyamoya disease, and Down syndrome without cerebrovascular disease was performed. Outcome measures included presence of autoimmune disease, presence of autoantibodies and angiopathy severity data. Comparisons across groups was performed using the Kruskal-Wallis, χ2 and multivariate Poisson regression.Results: The prevalence of autoimmune disease were 57.7, 20.3, and 35.3% in persons with Down syndrome and moyamoya syndrome, idiopathic moyamoya disease, and Down syndrome only groups, respectively (p < 0.001). The prevalence of autoimmune disease among children with Down syndrome and moyamoya syndrome is 3.2 times (p < 0.001, 95% CI: 1.82–5.58) higher than the idiopathic moyamoya group and 1.5 times (p = 0.002, 95% CI: 1.17–1.99) higher than the Down syndrome only group when adjusting for age and sex. The most common autoimmune diseases were thyroid disorders, type I diabetes and Celiac disease. No individuals with idiopathic moyamoya disease had more than one type of autoimmune disorder while 15.4% of individuals with Down syndrome and moyamoya syndrome and 4.8% of individuals with Down syndrome only had >1 disorder (p = 0.05, 95%CI: 1.08–6.08).Interpretation: This study reports elevated rates of autoimmune disease in persons with Down syndrome and moyamoya syndrome providing a nidus for study of the role of autoimmunity in angiopathy in this population.

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Blood Pressure Elevation and Risk of Moyamoya Syndrome in Patients With Trisomy 21

Abstract: Elevations in BP may foreshadow presentation of MMS in individuals with DS. This simple, low-cost screening measure may lead to early identification of at-risk patients in the medical home and prevent irreversible neurologic injury.

Cited by 22 publications

References 24 publications

Opportunities, barriers, and recommendations in Down syndrome research

Opportunities, barriers, and recommendations in Down syndrome research

Surgery for Moyamoya Disease in Children

Increased Autoimmunity in Individuals With Down Syndrome and Moyamoya Disease

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