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Genetic aspects of congenital and idiopathic scoliosis.

ABSTRACT: Congenital and idiopathic scoliosis represent disabling conditions of the spine. While congenital scoliosis (CS) is caused by morphogenic abnormalities in vertebral development, the cause(s) for idiopathic scoliosis is (are) likely to be varied, representing alterations in skeletal growth, neuromuscular imbalances, disturbances involving communication between the brain and spine, and others. Both conditions are characterized by phenotypic and genetic heterogeneities, which contribute to the difficulties in understanding their genetic basis that investigators face. Despite the differences between these two conditions there is observational and experimental evidence supporting common genetic mechanisms. This paper focuses on the clinical features of both CS and IS and highlights genetic and environmental factors which contribute to their occurrence. It is anticipated that emerging genetic technologies and improvements in phenotypic stratification of both conditions will facilitate improved understanding of the genetic basis for these conditions and enable targeted prevention and treatment strategies.

SUBMITTER: Giampietro PF

PROVIDER: S-EPMC3820596 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature

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Genetic aspects of congenital and idiopathic scoliosis.

Giampietro Philip F PF

Scientifica 20121231

Congenital and idiopathic scoliosis represent disabling conditions of the spine. While congenital scoliosis (CS) is caused by morphogenic abnormalities in vertebral development, the cause(s) for idiopathic scoliosis is (are) likely to be varied, representing alterations in skeletal growth, neuromuscular imbalances, disturbances involving communication between the brain and spine, and others. Both conditions are characterized by phenotypic and genetic heterogeneities, which contribute to the diff ...[more]

PMID: 24278672

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Project description:BackgroundThere is an acknowledged discrepancy between radiographic and cosmetic parameters for patients with adolescent idiopathic scoliosis (AIS). However, no study has specifically evaluated cosmesis in patients with congenital scoliosis (CS). Therefore, the purpose of this study was to identify the cosmetic differences between patients with CS and case-matched patients with AIS and to investigate the correlation between radiological measurements and clinical cosmetic assessment indices.MethodsA total of 37 adolescents with CS and 37 sex-, age-, and curve magnitude-matched patients with AIS were included. Cobb angle, shoulder height difference (SHD), coronal balance (CB), T1 tilt, first rib angle (FRA), clavicle angle (CA), clavicle-rib cage intersection (CRCI), and apical vertebra translation (AVT) were measured in the full X-ray of the spine. Shoulder area index 1 (SAI1), shoulder area index 2 (SAI2), shoulder angle (SA), axilla angle (AA), thoracolumbar area index (TLAI), and right and left waist angle difference (RLWAD) were measured on the clinical images from a posterior view. Hump index (HI) was measured in the forward bending photography. All patients completed the Scoliosis Research Society-22 (SRS-22) questionnaire.ResultsNo significant difference was noted in the radiographic parameters between the AIS and CS groups (P>0.05). However, patients with CS exhibited significantly lower SAI1 (0.91 vs. 0.98; P=0.002) and SAI2 (0.85 vs. 0.95; P=0.001) than did the patients with AIS. The SRS-22 scores for self-image and mental health in patients with CS were significantly lower than those in patients with AIS (P<0.05). The correlation coefficients with statistical significance between radiographic and cosmetic measurements in patients with CS and those with AIS ranged from -0.493 to 0.534 and from -0.653 to 0.717, respectively. None of the correlation coefficients exceeded 0.8, indicating that the current radiological indices only exhibited a limited level of consistency with patients' cosmesis.ConclusionsAs compared with age-, gender-, and curve pattern-matched patients with AIS, patients with CS exhibited worse cosmesis and had clinically significantly lower SRS-22 scores despite having relatively small clinical differences. Although the radiographic parameters may not always align with clinical presentation, this discrepancy could be observed in both patients with CS and those with AIS.

Project description:BACKGROUND:We previously reported a novel clinically distinguishable subtype of congenital scoliosis (CS), namely, TBX6-associated congenital scoliosis (TACS). We further developed the TBX6-associated CS risk score (TACScore), a multivariate phenotype-based model to predict TACS according to the patient's clinical manifestations. In this study, we aimed to evaluate whether using the TACScore as a screening method prior to performing whole-exome sequencing (WES) is more cost-effective than using WES as the first-line genetic test for CS. METHODS:We retrospectively collected the molecular data of 416 CS patients in the Deciphering disorders Involving Scoliosis and COmorbidities (DISCO) study. A decision tree was constructed to estimate the cost and the diagnostic time required for the two alternative strategies (TACScore versus WES). Bootstrapping simulations and sensitivity analyses were performed to examine the distributions and robustness of the estimates. The economic evaluation considered both the health care payer and the personal budget perspectives. RESULTS:From the health care payer perspective, the strategy of using the TACScore as the primary screening method resulted in an average cost of $1074.2 (95%CI: $1044.8 to $1103.5) and an average diagnostic duration of 38.7d (95%CI: 37.8d to 39.6d) to obtain a molecular diagnosis for each patient. In contrast, the corresponding values were $1169.6 (95%CI: $1166.9 to $1172.2) and 41.4d (95%CI: 41.1d to 41.7d) taking WES as the first-line test (P?<?0.001). From the personal budget perspective, patients who were predicted to be positive by the TACScore received a result with an average cost of $715.1 (95%CI: $594.5 to $835.7) and an average diagnostic duration of 30.4d (95%CI: 26.3d to 34.6d). Comparatively, the strategy of WES as the first-line test was estimated to have significantly longer diagnostic time with an average of 44.0d (95%CI: 43.2d to 44.9d), and more expensive with an average of $1193.4 (95%CI: $1185.5 to $1201.3) (P?<?0.001). In 100% of the bootstrapping simulations, the TACScore strategy was significantly less costly and more time-saving than WES. The sensitivity analyses revealed that the TACScore strategy remained cost-effective even when the cost per WES decreased to $8.8. CONCLUSIONS:This retrospective study provides clinicians with economic evidence to integrate the TACScore into clinical practice. The TACScore can be considered a cost-effective tool when it serves as a screening test prior to performing WES.

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Genetic aspects of congenital and idiopathic scoliosis.

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Genetic aspects of congenital and idiopathic scoliosis.

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