Validation of DNA-Based Prognostic Testing to Predict Spinal Curve Progression in Adolescent Idiopathic Scoliosis

Ward, Kenneth; Ogilvie, James W.; Singleton, Marc; Chettier, Rakesh; Engler, Gordon L.; Nelson, Lesa

doi:10.1097/brs.0b013e3181ed2de1

Cited by 89 publications

(80 citation statements)

References 27 publications

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“…The reason could be a polygenetic background, a low penetrance of the phenotype [3] or the lack of homogenous families. Recent data indicate that a panel of genetic markers selected after a genome wide association analysis may be useful to predict progression of idiopathic scoliosis [25]. In conclusion, our results confirm a genetic component in the aetiology of idiopathic scoliosis, still indicating that other factors, so far unknown, might be important for the development of scoliosis.…”

Section: Discussionsupporting

confidence: 76%

Heritability of scoliosis

2011

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Purpose To estimate the heritability of scoliosis in the Swedish Twin Registry. Methods Self-reported data on scoliosis from 64,578 twins in the Swedish Twin Registry were analysed. Prevalence, pair-and probandwise concordances and tetrachoric correlations in mono-and dizygotic same-sex twins were calculated. The relative importance of genetic variance, i.e. the heritability, and unique and shared environmental variance was estimated using structural equation modelling in Mx software. In addition, all twins in the twin registry were matched against the Swedish Inpatient Register on the primary diagnosis idiopathic scoliosis. Results The prevalence of scoliosis was 4%. Pair-and probandwise concordance was 0.11/0.17 for mono-and 0.04/0.08 for same-sex dizygotic twins. The tetrachoric correlation (95% CI) was 0.41 (0.33-0.49) in mono-and 0.18 (0.09-0.29) in dizygotic twins. The most favourable model in the Mx analyses estimated the additive genetic effects (95% CI) to 0.38 (0.18-0.46) and the unique environmental effects to 0.62 (0.54-0.70). Shared environmental effects were not significant. The pairwise/ probandwise concordance for idiopathic scoliosis in the Swedish Inpatient Register was 0.08/0.15 for monozygotic and zero/zero for same-sex dizygotic twins. Conclusion Using self-reported data on scoliosis from the Swedish Twin Registry, we estimate that 38% of the variance in the liability to develop scoliosis is due to additive genetic effects and 62% to unique environmental effects. This is the first study of sufficient size to make heritability estimates of scoliosis.

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Section: Discussionsupporting

confidence: 76%

Heritability of scoliosis

2011

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“…Tools for evaluating the risk of AIS progression have recently emerged based on genetic, radiographic data, and modeling [20][21][22]. Early identification of patients who will develop severe progressive curves can be of significant interest if early intervention options exist.…”

Section: Discussionmentioning

confidence: 99%

The impact of a corrective tether on a scoliosis porcine model: a detailed 3D analysis with a 20 weeks follow-up

et al. 2013

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Purpose Non-fusion treatment for adolescent idiopathic scoliosis generates interest due to the potential for growth preservation and mobility. Using an established porcine scoliotic model, this study aims to evaluate the global alignment and the morphology of the spine with and without application of a non-fusion corrective tether. Methods At 12 weeks of age, 21 immature Yorkshire pigs had an induction of scoliosis. Once a 50°Cobb angle was obtained; animals were placed into one of the following groups: a scoliosis model group (SM, n = 11) where animals were euthanized, tether release group (TR, n = 5) where the inducing tether was removed, and an anterior correction group (AC, n = 5) where the inducing tether was removed and non-fusion corrective tether was applied. TR and AC were observed for a further 20 weeks and then euthanized. Post-mortem CT scans were used to create 3D spinal reconstructions to obtain global and morphologic parameters. Results Maximal Cobb angle of the scoliotic deformity was significantly lower for AC (27.9°± 12.0°) than for the two other groups (TR 52.7°± 10.0°, SM 48.3°± 7.6°). AC experienced an increase in kyphosis (24.2°± 15.9°) compared to TR (7.1°± 6.4°). Correction in the axial plane was also observed in AC versus TR. Correction of vertebral wedging was found for AC compared to SM and TR in the three apical vertebrae.Conclusions 3D realignment of scoliotic curves was observed with application of the corrective tether. The correction was the product of both mechanical action and growth modulation. These findings are encouraging for future development of a non-fusion device for the treatment of immature scoliotic curves.

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“…The development, validation, and availability of functional blood testing or DNA analysis sampled from saliva could facilitate individual risk assessment and ensure adequate follow-up and therapeutic management of scoliotic patients [42,63].…”

Section: Discussionmentioning

confidence: 99%

Idiopathic scoliosis: Etiological concepts and hypotheses

Dayer

Haumont

Belaieff

et al. 2013

Journal of Children's Orthopaedics

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Scoliosis is diagnosed as idiopathic in 70 % of structural deformities affecting the spine in children and adolescents, probably reflecting our current misunderstanding of this disease. By definition, a structural scoliosis should be the result of some primary disorder. The goal of this article is to give a comprehensive overview of the currently proposed etiological concepts in idiopathic scoliosis regarding genetics, molecular biology, biomechanics, and neurology, with particular emphasis on adolescent idiopathic scoliosis (AIS). Despite the fact that numerous potential etiologies for idiopathic scoliosis have been formulated, the primary etiology of AIS remains unknown. Beyond etiology, identification of prognostic factors of AIS progression would probably be more relevant in our daily practice, with the hope of reducing repetitive exposure to radiation, unnecessary brace treatments, psychological implications, and costs-of-care related to follow-up in lowrisk patients.

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Validation of DNA-Based Prognostic Testing to Predict Spinal Curve Progression in Adolescent Idiopathic Scoliosis

Cited by 89 publications

References 27 publications

Heritability of scoliosis

Heritability of scoliosis

The impact of a corrective tether on a scoliosis porcine model: a detailed 3D analysis with a 20 weeks follow-up

Idiopathic scoliosis: Etiological concepts and hypotheses

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