Prevalence and impact of X-ray screening for atlantoaxial instability in children with Down syndrome

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2021
Authors
Shenoda, Daniel
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Community-Academic Research Links, University College Cork
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Abstract
Introduction: Atlantoaxial instability (AAI) is defined as excessive movement between the first and second cervical vertebra. This can lead to spinal cord compression, resulting in myelopathic and radicular symptoms. These symptoms occur in 1-2% of the down syndrome (DS) population. DS athletes are often required to undergo pre-participation X-ray screening for AAI to help identify those at risk. However, the evidence for plain cervical spine X-ray as a form of screening is poor. Aim: This project aims to explore the use, sensitivity and specificity of X-ray screening for AAI in the Irish DS population, to investigate the prevalence of symptomatic AAI, to identify the rate of sport exclusion based on an abnormal X-ray and to investigate whether neuromuscular conditions, type of schooling or activity level are significantly correlated to an abnormal Xray. Method: This is a nation-wide cross-sectional online survey. It was rolled out via email by Down Syndrome Ireland to 1511 registered families. The survey asked parents if their child has had to undergo x-ray screening, the result of the x-ray, the impact of the result and if they developed symptoms. The survey also assessed parental knowledge of symptoms of AAI. Results: Out of 240 responders, 7 responders had symptomatic AAI and 5 of these had normal X-rays (29% sensitivity). Chi-Squared testing showed no variables significantly correlated with having an abnormal X-ray. Of the total group of 146 who underwent X-ray pre-participation screening, 20 had abnormal results and were excluded from playing their desired sports (specificity 86.7 %). Conclusion: X-ray screening for AAI in Ireland is very common and can result in the exclusion of many from participating in sports. Plain X-ray has low sensitivity. Therefore, it is not an optimal screening tool for AAI in asymptomatic children. More should be done to improve parental knowledge of this condition.
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X-ray screening , Atlantoaxial instability , Children with Down syndrome
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Shenoda, D. (2021) Prevalence and impact of X-ray screening for atlantoaxial instability in children with Down syndrome. Cork: Community-Academic Research Links, University College Cork.
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©2021, Daniel Shenoda.