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- Danielsson, Aina, 1953, et al.
(författare)
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A prospective study of brace treatment versus observation alone in adolescent idiopathic scoliosis: a follow-up mean of 16 years after maturity
- 2007
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Ingår i: Spine. - 1528-1159 .- 0362-2436. ; 32:20, s. 2198-207
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Tidskriftsartikel (refereegranskat)abstract
- STUDY DESIGN: The Swedish patients included in the previous SRS brace study were invited to take part in a long-term follow-up. OBJECTIVE: To investigate the rate of scoliosis surgery and progression of curves from baseline as well as after maturity. SUMMARY OF BACKGROUND DATA: Brace treatment was shown to be superior to electrical muscle stimulation, as well as observation alone, in the original SRS brace study. Few other studies have shown that brace treatment is effective in the treatment of scoliosis. METHODS: Of 106 patients, 41 in Malmo (all Boston brace treatment) and 65 in Goteborg (observation alone as the intention to treat), 87% attended the follow-up, including radiography and chart review. All radiographs were (re)measured for curve size (Cobb method) by an unbiased examiner. Searching in the mandatory national database for performed surgery identified patients who had undergone surgery after maturity. RESULTS: The mean follow-up time was 16 years and the mean age at follow-up was 32 years The 2 treatment groups had equal curve size at inclusion. The curve size of patients who were treated with a brace from the start was reduced by 6 degrees during treatment, but the curve size returned to the same level during the follow-up period. No patients who were primarily braced went on to undergo surgery. In patients with observation alone as the intention to treat, 20% were braced during adolescence due to progression and another 10% underwent surgery. Seventy percent were only observed and increased by 6 degrees from inclusion until now. No patients underwent surgery after maturity. Progression was related to premenarchal status. CONCLUSION: The curves of patients with adolescent idiopathic scoliosis with a moderate or smaller size at maturity did not deteriorate beyond their original curve size at the 16-year follow-up. No patients treated primarily with a brace went on to undergo surgery, whereas 6 patients (10%) in the observation group required surgery during adolescence compared with none after maturity. Curve progression was related to immaturity.
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| 2. |
- Danielsson, Aina, 1953, et al.
(författare)
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Body Appearance and Quality of Life in Adult Patients with Adolescent Idiopathic Scoliosis Treated with a Brace or Under Observation Alone During Adolescence.
- 2011
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Ingår i: Spine. - 1528-1159. ; 37:9
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Tidskriftsartikel (refereegranskat)abstract
- ABSTRACT: Study Design. The SRS brace study (JBJS-A, 1995) was comprised of patients with adolescent idiopathic scoliosis with moderate curve sizes (25-35°). Forty observed and 37 braced patients (77% of the original group) attended a follow-up a mean of 16 years after onset of maturity.Objectives. To analyze whether the subjectively evaluated present body appearance affects outcome as measured by quality of life in adult patients, previously treated by observation alone (non-braced) or with a brace during adolescence.Summary of Background Data. Few reports exist where validated outcome measures for body appearance have been used.Methods. Two quality of life questionnaires (SRS-22 and SF-36) were answered. The patient's opinion on body appearance was evaluated pictorially (i.e. sketches) using the Spinal Appearance Questionnaire, in which seven aspects of asymmetry are graded. These scores were compared with curve sizes, scoliometer measurements for grading trunk asymmetry and quality of life measures.Results. At follow-up, both groups were similar in terms of age (mean 32 years) and curve size (mean 35°). Distortion was inversely related to SRS-22 total score and satisfaction/dissatisfaction with management subscore, but not related to the SRS-22 function subscore. No difference was found between the groups in terms of trunk rotation, where the means were 10.7° and 10.8° for the non-braced and braced patients, respectively. The non-braced patients estimated that their body appearance was significantly less distorted than the braced patients (mean 12.9 and 15.0, respectively; p = 0.0028).Conclusions. Patients who experienced less body asymmetry were more satisfied with treatment and had a better quality of life. In spite of similar curve sizes and trunk rotation in both groups, the non-braced patients felt that their body appearance was less distorted than the braced patients.
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| 3. |
- Danielsson, Aina, 1953, et al.
(författare)
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Health-related quality of life in untreated versus brace-treated patients with adolescent idiopathic scoliosis: a long-term follow-up
- 2010
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Ingår i: Spine. - 0362-2436. ; 35:2, s. 199-205
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Tidskriftsartikel (refereegranskat)abstract
- STUDY DESIGN: The previous Scoliosis Research Society brace study (JBJS-A, 1995) included patients with adolescent idiopathic scoliosis (AIS) with moderate curve sizes (25 degrees -35 degrees). The Swedish patients in this study were examined in a long-term follow-up. OBJECTIVE: The aim was to analyze and compare quality of life in adulthood between AIS patients who were only observed or treated with a brace during adolescence. SUMMARY OF BACKGROUND DATA: Quality of life as measured by the SRS-22 has not previously been presented for adult untreated AIS patients. METHODS: Forty patients who were only observed (due to a curve increase of less than 6 degrees until maturity), and 37 brace-treated patients attended the complete follow-up, including clinical and radiologic examination, and answered 2 quality of life questionnaires (SRS-22 and Short Form-36 [SF-36]). RESULTS: No differences were found between the groups in terms of age at follow-up (mean: 32 years), follow-up time after maturity (mean: 16.0 years), and curve size at inclusion (mean: 30 degrees) or at follow-up (mean: 35 degrees). The SRS-22/total score was a mean of 4.2 for braced patients and 4.1 for only observed patients. Neither total scores/subscales of the SRS-22 or SF-36 differed significantly between the groups. For the SF-36, no differences in relation to the Swedish age-matched norm scales were found for either group. CONCLUSION: Patients with moderate AIS report good quality of life in their 30s, as measured by both the SRS-22 and SF-36, regardless of whether they received no active treatment or were brace treated during adolescence. Neither of the groups displayed any difference compared with the age-matched norm groups for the SF-36.
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| 4. |
- Einarsdottir, E., et al.
(författare)
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CELSR2 is a candidate susceptibility gene in idiopathic scoliosis
- 2017
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Ingår i: PLoS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 12:12
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Tidskriftsartikel (refereegranskat)abstract
- A Swedish pedigree with an autosomal dominant inheritance of idiopathic scoliosis was initially studied by genetic linkage analysis, prioritising genomic regions for further analysis. This revealed a locus on chromosome 1 with a putative risk haplotype shared by all affected individuals. Two affected individuals were subsequently exome-sequenced, identifying a rare, non-synonymous variant in the CELSR2 gene. This variant is rs141489111, a c. G6859A change in exon 21 (NM_001408), leading to a predicted p. V2287I (NP_001399.1) change. This variant was found in all affected members of the pedigree, but showed reduced penetrance. Analysis of tagging variants in CELSR1-3 in a set of 1739 Swedish-Danish scoliosis cases and 1812 controls revealed significant association (p = 0.0001) to rs2281894, a common synonymous variant in CELSR2. This association was not replicated in case-control cohorts from Japan and the US. No association was found to variants in CELSR1 or CELSR3. Our findings suggest a rare variant in CELSR2 as causative for idiopathic scoliosis in a family with dominant segregation and further highlight common variation in CELSR2 in general susceptibility to idiopathic scoliosis in the Swedish-Danish population. Both variants are located in the highly conserved GAIN protein domain, which is necessary for the auto-proteolysis of CELSR2, suggesting its functional importance.
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| 5. |
- Grauers, Anna, et al.
(författare)
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Candidate gene analysis and exome sequencing confirm LBX1 as a susceptibility gene for idiopathic scoliosis
- 2015
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Ingår i: The Spine Journal. - Stockholm : Karolinska Institutet, Dept of Clinical Science, Intervention and Technology. - 1529-9430 .- 1878-1632.
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Tidskriftsartikel (refereegranskat)abstract
- Background: Idiopathic scoliosis is a spinal deformity affecting approximately 3% of otherwise healthy children or adolescents. The etiology is still largely unknown but has an important genetic component. Genome-wide association studies have identified a number of common genetic variants that are significantly associated with idiopathic scoliosis in Asian and Caucasian populations, rs11190870 close to the LBX1 gene being the most replicated finding. Purpose: The aim of the present study was to investigate the genetics of idiopathic scoliosis in a Scandinavian cohort by performing a candidate gene study of four variants previously shown to be associated with idiopathic scoliosis and exome sequencing of idiopathic scoliosis patients with a severe phenotype to identify possible novel scoliosis risk variants. Study design: This was a case control study. Patient sample: A total of 1,739 patients with idiopathic scoliosis and 1,812 controls were included. Outcome measure: The outcome measure was idiopathic scoliosis. Methods: The variants rs10510181, rs11190870, rs12946942, and rs6570507 were genotyped in 1,739 patients with idiopathic scoliosis and 1,812 controls. Exome sequencing was performed on pooled samples from 100 surgically treated idiopathic scoliosis patients. Novel or rare missense, nonsense, or splice site variants were selected for individual genotyping in the 1,739 cases and 1,812 controls. In addition, the 5′UTR, noncoding exon and promoter regions of LBX1, not covered by exome sequencing, were Sanger sequenced in the 100 pooled samples. Results: Of the four candidate genes, an intergenic variant, rs11190870, downstream of the LBX1 gene, showed a highly significant association to idiopathic scoliosis in 1,739 cases and 1,812 controls (p=7.0×10−18). We identified 20 novel variants by exome sequencing after filtration and an initial genotyping validation. However, we could not verify any association to idiopathic scoliosis in the large cohort of 1,739 cases and 1,812 controls. We did not find any variants in the 5′UTR, noncoding exon and promoter regions of LBX1. Conclusions: Here, we confirm LBX1 as a susceptibility gene for idiopathic scoliosis in a Scandinavian population and report that we are unable to find evidence of other genes of similar or stronger effect.
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| 6. |
- Grauers, Anna, et al.
(författare)
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Family history and its association to curve size and treatment in 1,463 patients with idiopathic scoliosis
- 2013
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Ingår i: European Spine Journal. - : Springer Science and Business Media LLC. - 0940-6719 .- 1432-0932. ; 22:11, s. 2421-2426
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Tidskriftsartikel (refereegranskat)abstract
- To study family history in relation to curve severity, gender, age at diagnosis and treatment in idiopathic scoliosis. A self-assessment questionnaire on family history of scoliosis was administered to 1,463 untreated, brace or surgically treated idiopathic scoliosis patients. Out of the 1,463 patients, 51 % had one or more relatives with scoliosis. There was no significant difference between females and males, nor between juvenile and adolescent study participants in this respect (p = 0.939 and 0.110, respectively). There was a significant difference in maximum curve size between patients with one or more relatives with scoliosis (median 35A degrees, interquartile range 25) and patients without any relative with scoliosis (median 32A degrees, interquartile range 23) (p = 0.022). When stratifying patients according to treatment (observation, brace treatment or surgery), we found that it was more common to have a relative with scoliosis among the treated patients (p = 0.011). The OR for being treated was 1.32 (95 % CI 1.06-1.64) when the patient had a relative with scoliosis, compared to not having. Larger curve sizes were found in patients with a family history of scoliosis than in the ones without. No relation between family history and gender or between family history and age at onset of idiopathic scoliosis was found. Although the presence of a family history of scoliosis may not be a strong prognostic risk factor, it indicates that these patients are at higher risk of developing a more severe curve.
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