Adolescent idiopathic scoliosis: current concepts on neurological and muscular etiologies

Wajchenberg, Marcelo; Astur, Nelson; Kanas, Michel; Martins, Délio Eulálio

doi:10.1186/s13013-016-0066-y

Cited by 42 publications

(28 citation statements)

References 52 publications

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“…Impairments in hip mobility and pelvic girdle strength demonstrate that functional deficits contribute to clinical disease. Similar to other forms of scoliosis, it is unclear whether these muscular impairments directly impact spinal curvature, or arise as secondary effects . However, skeletal disease burden was highly associated with scoliosis even in subjects without spinal FD, suggesting a potential causative role for functional deficits.…”

Section: Discussionmentioning

confidence: 99%

“…Similar to other forms of scoliosis, it is unclear whether these muscular impairments directly impact spinal curvature, or arise as secondary effects. (13) However, skeletal disease burden was highly associated with scoliosis even in subjects without spinal FD, suggesting a potential causative role for functional deficits. Of note, leg length discrepancy has been independently associated with decreased hip strength, rangeof-motion, and gait efficiency in patients with FD.…”

Section: Discussionmentioning

confidence: 99%

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Scoliosis in Fibrous Dysplasia/McCune-Albright Syndrome: Factors Associated With Curve Progression and Effects of Bisphosphonates

Berglund

Tella

Tuthill

et al. 2018

Journal of Bone and Mineral Research

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Scoliosis is a complication of fibrous dysplasia/McCune-Albright syndrome (FD/MAS); however, risk factors and long-term outcomes are unknown. Bisphosphonates are commonly used; however, it is unknown whether their use decrease the risk of progressive scoliosis. Clinical data from the National Institutes of Health (NIH) cohort study was reviewed. Cobb angles were measured, and variables associated with scoliosis progression were identified. Of 138 subjects with available radiographs, 84 (61%) had scoliosis, including 55 (65%) classified as mild (Cobb angle >10 to ≤30 degrees), 11 (13%) as moderate (>30 to ≤45 degrees), and 18 (22%) as severe (>45 degrees). Total skeletal disease burden was highly associated with scoliosis severity (p < 0.0001). Endocrinopathies associated with scoliosis included fibroblast growth factor 23 (FGF23)-mediated hypophosphatemia (p < 0.001) and hyperthyroidism (p < 0.001). Bone turnover markers, including osteocalcin and NTX-telopeptides, were associated with severe scoliosis (p < 0.01). Associations were identified between Cobb angle and functional metrics, including leg length discrepancy (p < 0.01), hip range of motion (p < 0.05), and strength of the gluteus medius and maximus (p < 0.01). Longitudinal analyses were conducted in 69 subjects who had serial radiographs over a median 4.9-year period (range, 0.9 to 14.7 years). Twenty-two subjects were treated with bisphosphonates; there was no difference in Cobb angle progression compared to untreated subjects (0.10 versus 0.53 degrees/year, p = 0.36). Longitudinal data was available for 10 of 12 subjects treated with spinal fusion; one had instrumentation failure, but in nine subjects Cobb angles were stable with 6.1 years of follow-up (range, 0.9 to 14.7 years). Two fatalities from scoliosis-associated restrictive lung disease occurred in subjects managed non-operatively. Scoliosis occurs frequently in patients with polyostotic FD, and may be potentially fatal. The primary risk factor for progressive scoliosis is total skeletal disease burden. Treatable features that contribute to scoliosis progression include leg length discrepancy, FGF23-mediated hypophosphatemia, and hyperthyroidism. Current data do not support routine use of bisphosphonates to prevent progression of spinal curvature. Spinal fusion is frequently effective in providing long-term stability, and may be lifesaving. Published 2018. This article is a U.S. Government work and is in the public domain in the USA.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Scoliosis in Fibrous Dysplasia/McCune-Albright Syndrome: Factors Associated With Curve Progression and Effects of Bisphosphonates

Berglund

Tella

Tuthill

et al. 2018

Journal of Bone and Mineral Research

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“…The etiopathogenesis of AIS remains unknown. Several etiologies have been postulated as follows: genetic or hereditary factors, neurological disorders, hormonal and metabolic dysfunction, skeletal growth, biomechanical factors, and environmental factors [3,8]. It is well established that genetic factors play a role in AIS development [9,10].…”

Section: Introductionmentioning

confidence: 99%

Low Body Mass Index for Early Screening of Adolescent Idiopathic Scoliosis: A Comparison Based on Standardized Body Mass Index Classifications

Kim

Uhm

Chae

et al. 2020

Asian Nursing Research

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Scoliosis is a common musculoskeletal problem in adolescents. This study aimed to identify the prevalence of adolescent idiopathic scoliosis (AIS) and its associated factors among Korean adolescents. The prevalence of thin individuals among students with AIS was compared based on body mass index (BMI) classifications. Methods: This study was a secondary data analysis and used the 2016 Korean National Health Examination for School Students data. Data from 16,412 students were analyzed using descriptive statistics, Chi-square tests, and logistic regression analysis. Results: The prevalence of AIS was higher in women (3.8%) than in men (1.6%), and a higher school year was a risk factor for AIS in both sexes. In woman adolescents, scoliosis was associated with thinness; however, the risk of AIS was inversely associated with overweight/obesity in both sexes. The prevalence of thin woman students with scoliosis differed based on the criteria used: 3.3% by the World Health Organization criteria and 14.3% by the International Obesity Task Force criteria. Conclusion: The prevalence of thin students with scoliosis could increase by up to four times depending on the BMI criteria. For early screening of thin people at risk of AIS among female students, the criterion of International Obesity Task Force should be used as it is more permissive of thinness. This is also because of the underestimation of AIS prevalence when using the BMI Z score of the World Health Organization cutoff.

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“…Congenital scoliosis (CS) is present at birth arising due to a developmental abnormality, while idiopathic scoliosis (IS) develops during childhood or adolescence with no known cause (Goldstein and Waugh, 1973). The etiology of IS remains unknown but it does not appear to be due to vertebral abnormalities (Wajchenberg et al, 2016). Neurological, muscular, growth and even hormonal abnormalities may be associated with IS (reviewed in (Latalski et al, 2017)), however, no conclusive cause has been established.…”

Section: Discussionmentioning

confidence: 99%

Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo

Blackwell

Fraser

Caluseriu

et al. 2020

Preprint

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180 words) 3 2 Mutations in RNA binding proteins can lead to pleiotropic phenotypes including craniofacial, skeletal, 3 3 limb and neurological symptoms. Heterogeneous Nuclear Ribonucleoproteins (hnRNPs) are involved 3 4in nucleic acid binding, transcription and splicing through direct binding to DNA and RNA, or through 3 5interaction with other proteins in the spliceosome. Here, we show a developmental role for hnrnpul1 in 3 6zebrafish fin and craniofacial development, and in adult onset scoliosis. Furthermore, we demonstrate 3 7 a role of hnrnpul1 in alternative splicing regulation. In two siblings with congenital limb malformations, 3 8whole exome sequencing detected a frameshift variant in HNRNPUL1; the developmental role of this 3 9gene in humans has not been explored. Our data suggest an important developmental role of 4 0 hnRNPUL1 in both zebrafish and humans. Although there are differences in phenotypes between 4 1 species, our data suggests potential conservation of ancient regulatory circuits involving hnRNPUL1 in 4 2 these phylogenetically distant species. 4 3

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Adolescent idiopathic scoliosis: current concepts on neurological and muscular etiologies

Cited by 42 publications

References 52 publications

Scoliosis in Fibrous Dysplasia/McCune-Albright Syndrome: Factors Associated With Curve Progression and Effects of Bisphosphonates

Scoliosis in Fibrous Dysplasia/McCune-Albright Syndrome: Factors Associated With Curve Progression and Effects of Bisphosphonates

Low Body Mass Index for Early Screening of Adolescent Idiopathic Scoliosis: A Comparison Based on Standardized Body Mass Index Classifications

Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo

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