Scoliosis in association with the 22q11.2 deletion syndrome: an observational study

Abstract

Clinicians should be aware that scoliosis is highly prevalent (48%-49%) in association with 22q11.2DS, irrespective of other clinical features (eg, the presence of CHD). Furthermore, 22q11.2DS may provide insights into the causes of AIS.

The role of 22q11.2 deletion syndrome in the relationship between congenital heart disease and scoliosis

“…The results are consistent with previous studies reporting high prevalence of scoliosis in 22q11.2DS of about 50% [28], compared with general population expectations of about 1%-9% [2,9]. The scoliosis prevalence in the general population varies greatly, with estimates from 0.5% to 5.2% based on physical examination [29].…”

“…AIS is more common in females [31], whereas we found that in 22q11.2DS, the prevalence of scoliosis is about equal between females and males, consistent with previous reports [28]. In the general population, early onset scoliosis (age <10 years) comes closer to a 1:1 female:male ratio [32,33].…”

“…The type of scoliosis, both in the 22q11.2DS and no 22q11.2DS group is comparable to that of the general population, with the majority having a major thoracic curve [35]. This finding supports the hypothesis that the 22q11.2 deletion population, which has a high risk to develop an idiopathic-like scoliosis, can be used as a model to study the development of scoliosis [28,34].…”

Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese

“…TBX1 is a member of the T-box gene family, which is a group of transcription factors involved in the regulation of developmental processes. Mutations of TBX1 are known to cause DiGeorge syndrome (OMIM #188400) and velocardiofacial syndrome (OMIM #192430), and scoliosis is one of the clinical features, which is highly prevalent (47–49%) in association with these syndromes 25–28 . There is substantial evidence that Tbx1 haploinsufficiency is responsible for the physical features of these syndromes, and it has also been reported that Tbx1 knockout mice show vertebral anomalies 29,30 .…”

Beware the syndromic spine

“…Awareness of the presentation and characteristics of children and young people (CYP) who may develop scoliosis and what they may need if they do is very much with in the paediatric remit and the paper by Homans et al 1 adds considerably to this knowledge.…”