Skeletal Dysplasia: establishing metabolic & nutritional requirements to manage health risks

有些人天生就有一种疾病，使他们的骨骼不能正常生长。这种情况的医学术语是骨骼发育不良，但它通常被称为侏儒症。大多数人注意到这会导致胳膊和腿变短，但没有意识到可能限制生活质量的许多其他健康问题（例如，头骨变化导致呼吸困难，脊柱变化导致颈部和背部手术，关节疼痛，骨头不能很好地结合在一起，因此在为高个子设计的世界中行动不便）。如果一个人超重或肥胖，上述所有问题都会变得更糟。这一点很重要，因为患有骨骼发育不良的人比身高正常的人更容易增重。患有骨骼发育不良的人也更有可能患上危及生命的疾病，如2型糖尿病和心脏病。没有人知道为什么极度矮小会导致这些问题。新陈代谢率很可能解释了身体脂肪水平和健康指标之间的联系，但还没有科学研究在这一独特的人群中进行过这些测量。在这个领域没有研究的原因是具有必要技能的科学家没有接触到大量患有骨骼发育不良的人。我们的研究团队与几个主要的慈善机构合作，这样我们就可以非常准确地测量大量人群的代谢率和对一顿饭的代谢反应。我们还将使用尖端的可穿戴技术来监测人们恢复正常生活方式后的饮食和身体活动水平，这样我们就能完全了解他们每天摄入和消耗了多少能量。这些测量的一个好处是，它们将揭示患有骨骼发育不良的人代谢健康的体脂范围。这是很重要的，因为通常通过简单地检查体重或身体质量指数的健康范围（即你的身高的合适体重）来做到这一点的方法是行不通的，除非身体的所有部分都是正常的大小和形状。因此，患有骨骼发育不良的人目前没有办法知道他们是否应该减肥，如果是的话，什么是适合他们的饮食和体育活动。

Some people are born with a condition that prevents their bones from growing in the usual way. The medical term for this is skeletal dysplasia but it is often known as dwarfism. Most people notice that this results in short arms and legs but are unaware of the many other health problems that can limit quality of life (e.g. breathing difficulties due to changes in the skull, neck and back operations due to changes in the spine, joint pain where bones do not fit together well and so extra difficulties moving around in a world designed for taller people). All the above problems can be made worse if a person becomes overweight or obese. This is important because people with skeletal dysplasia are more likely to gain weight than those who are average height. People with skeletal dysplasia are also then more likely to become ill with life-threatening diseases like type 2 diabetes and heart disease. Nobody knows why being extremely short would cause these problems. It is likely that metabolic rate might explain the links between body fat levels and health markers - but no scientific research has ever made these measurements in this unique group of people. The reason there is no research in this area is that scientists with the necessary skills have not had access to a large group of people with skeletal dysplasia. Our research team has linked with several major charities to do just that, so we can measure metabolic rate and the metabolic response to a meal very accurately from a large number of people. We will also then use cutting-edge wearable technology to monitor diet and physical activity levels once people return to their normal lifestyles, so we can understand completely how much energy they take in and use on a daily basis. One benefit of these measurements is that they will reveal the range of body fat that is metabolically healthy for a person with skeletal dysplasia. This is important because the usual ways to do this by simply checking the healthy range for body weight or body mass index (i.e. the right weight for your height) does not work well unless all parts of the body are the usual size and shape. Individuals with skeletal dysplasia therefore currently have no way to know whether they should lose weight and, if so, what would be an appropriate diet and physical activity for them.