Adolescent idiopathic scoliosis : a review of aetiological theories of a multifactorial disease

Abstract

Adolescent idiopathic scoliosis (AIS), defined by an age at presentation of 11 to 18 years, has a prevalence of 0.47% and accounts for approximately 90% of all cases of idiopathic scoliosis. Despite decades of research, the exact aetiology of AIS remains unknown. It is becoming evident that it is the result of a complex interplay of genetic, internal, and environmental factors. It has been hypothesized that genetic variants act as the initial trigger that allow epigenetic factors to propagate AIS, which could also explain the wide phenotypic variation in the presentation of the disorder. A better understanding of the underlying aetiological mechanisms could help to establish the diagnosis earlier and allow a more accurate prediction of deformity progression. This, in turn, would prompt imaging and therapeutic intervention at the appropriate time, thereby achieving the best clinical outcome for this group of patients. Cite this article: Bone Joint J 2022;104-B(8):915-921.

Keywords: Adolescent idiopathic scoliosis; Aetiology of scoliosis; DNA; Genetic basis of scoliosis; aetiology; clinical outcome; deformity; hormones; idiopathic scoliosis; melatonin; scoliotic curves; spinal column.