Raising Awareness of Moyamoya within the Down Syndrome Community
To: Down Syndrome Medical Interest Group, NIH Down Syndrome Consortium, Global Down Syndrome Foundation
Over the past several years, parents in the Down syndrome community have noticed more cases of Moyamoya disease and are increasingly concerned about the lack of knowledge and awareness of Moyamoya within the Down syndrome community. This can be a fatal disease, and it is crucial to raise awareness with parents and the medical community.
Research shows Moyamoya is more prevalent in those with Down syndrome, particularly in individuals with Down syndrome who've had a congenital heart defect repaired. However, it is important to note that ANYONE can have Moyamoya. Moyamoya is a rare cerebrovascular disease caused by blocked arteries at the base of the brain, or narrowing of the internal carotid arteries. The disease primarily affects children, but it can also occur in adults. In children, the first symptom can be seizures, stroke, or TIA’s (“mini-strokes”), frequently accompanied by muscular weakness or paralysis affecting one side of the body. Diagnosis is normally made with MRI or MRA, followed by confirmation with an angiogram.
There is a lack of knowledge among medical professionals regarding this disease as it relates to patients with Down syndrome. We believe this is due to the fact that it is labeled a rare disease and because many individuals with Down syndrome are unable to communicate their true symptoms. Research shows that late-stage diagnosis in those with Down syndrome is most likely related to these factors. This is extremely important because Moyamoya is a progressive disease that needs immediate diagnosis, attention, and treatment, as it can be fatal. Research is pointing to misdiagnosis, as well as cases that were never reported or that were diagnosed after death, which could create higher statistical numbers in Moyamoya cases, especially in the Down syndrome community.
As mentioned, Moyamoya seems to becoming more prevalent within the Down syndrome community. It can be a fatal disease if diagnosed at a later stage or left untreated. There is also minimal awareness in the parent and general medical community. For these reasons, we recommend that Moyamoya awareness be included in the Down syndrome medical guidelines. We also recommend raising general awareness in the medical community by including Moyamoya in new-parent information packets and discussing it within Down syndrome meetings and associations. Thank you for your time and consideration of our recommendations.
Sincerely,
Down Syndrome Affiliates in Action:
ChapTer 21
Chattahoochee Valley Down Syndrome Association
Connecticut Down Syndrome Congress
Designer Genes of North Dakota
Down Syndrome Association of Acadiana
Down Syndrome Association of Central Florida
Down Syndrome Association of Greater Richmond
Down Syndrome Association of Greater St. Louis
Down Syndrome Association of Middle Tennessee
Down Syndrome Association of Minnesota
Down Syndrome Association of Northern Virginia
Down Syndrome Connection of the Bay Area
Down Syndrome Family Alliance of Greenville
Down Syndrome Guild of Southeast Michigan
Down Syndrome of Louisville
Fun Coast Down Syndrome Association
Gold Coast Down Syndrome Organization
International Down Syndrome Coalition
International Mosaic Down Syndrome Association
Lancaster Down Syndrome Association
S.M.I.L.E. on Down Syndrome
Silicon Valley Down Syndrome Network
Southern Arizona Down Syndrome Network
The Up Side of Downs of Northeast Ohio
Triangle Down Syndrome Network
Wisconsin Upside Down
Sources:
1. J Neurosurg Pediatr. 2015 Jul;16(1):58-63. doi: 10.3171/2014.12.PEDS14563. Epub 2015 Apr 3.
2. Burke GM, Burke AM, Sherma AK, Hurley MC, Batjer HH, Bendok BR. Moyamoya disease: a summary. Neurosurg Focus 26(4):E11, 2009
3. Spine, Mayfield Brain &. "Moyamoya Disease." , Moya Moya. Mayfield Brain & Spine, 1 Apr. 2016. Web. 06 May 2017.
