Towards evidence-based care for Rett syndrome: a research model to inform management of rare disorders

雷特综合征是一种罕见但严重的遗传性神经系统疾病，主要影响女孩，经常并发脊柱弯曲和生长不良。该项目将使用16年来收集的国家登记数据来检查功能能力的变化和脊柱侧凸曲线的进展。它将制定指导方针和改进程序，以协助诊断，并将全面评估用于脊柱侧凸和生长问题管理的手术治疗。

Rett syndrome is a rare but serious genetic neurological disorder affecting mainly girls and often complicated by spinal curvature and poor growth. This project will use national register data collected over 16 years to examine change in functional abilities and progression of the scoliosis curve. It will develop guidelines and improve processes to assist with diagnosis and will comprehensively evaluate the surgical treatments used in the management of scoliosis and growth problems.