A comprehensive review of the diagnosis and management of congenital scoliosis

Mackel, Charles E.; Jada, Ajit; Samdani, Amer F.; Stephen, James H.; Bennett, James T.; Baaj, Ali A.; Hwang, Steven W.

doi:10.1007/s00381-018-3915-6

Cited by 46 publications

(41 citation statements)

References 165 publications

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“…Clinically, congenital vertebral malformation is considered a multifactorial disease. Although most cases are sporadic in families, the condition may be hereditary (Mackel et al, 2018). Congenital vertebral malformation can be either syndromic or non-syndromic.…”

Section: Discussionmentioning

confidence: 99%

Delta Like-1 Gene Mutation: A Novel Cause of Congenital Vertebral Malformation

et al. 2019

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Skeletal development throughout the embryonic and postnatal phases is a dynamic process, based on bone remodeling and the balance between the activities of osteoclasts and osteoblasts modulating skeletal homeostasis. The Notch signaling pathway is a regulator of several developmental processes, and plays a crucial role in the development of the human skeleton by regulating the proliferation and differentiation of skeletal cells. The Delta Like-1 (DLL1) gene plays an important role in Notch signaling. We propose that an identified alteration in DLL1 protein may affect the downstream signaling. In this article, we present for the first time two siblings with a mutation in the DLL1 gene, presenting with congenital vertebral malformation. Using variable in silico prediction tools, it was predicted that the variant was responsible for the development of disease. Quantitative reverse-transcription polymerase chain reaction (PCR) for the Notch signaling pathway, using samples obtained from patients, showed a significant alteration in the expression of various related genes. Specifically, the expression of neurogenic locus notch homolog protein 1, SNW domain-containing protein 1, disintegrin, and metalloproteinase domain-containing proteins 10 and 17, was upregulated. In contrast, the expression of HEY1, HEY2, adenosine deaminase (ADA), and mastermind-like-1 (MAML-1) was downregulated. Furthermore, in a phosphokinase array, four kinases were significantly changed in patients, namely, p27, JANK1/2/3, mitogen- and stress-activated protein kinases 1 and 2, and focal adhesion kinase. Our results suggest an implication of a DLL1 defect related to the Notch signaling pathway, at least in part, in the morphologic abnormality observed in these patients. A limitation of our study was the low number of patients and samples. Further studies in this area are warranted to decipher the link between a DLL1 defect and skeletal abnormality.

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Section: Discussionmentioning

confidence: 99%

Delta Like-1 Gene Mutation: A Novel Cause of Congenital Vertebral Malformation

et al. 2019

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“…Congenital scoliosis arises from an error in vertebral development resulting in failure of formation and/or segmentation. 7 Failure of formation causes wedge/ butterfly vertebrae or hemivertebrae. Failure of segmentation results in the fusion of spinal elements causing block vertebrae or vertebral bar.…”

Section: Aetiologymentioning

confidence: 99%

“…The highest progression rate occurs with hemivertebrae and a contralateral bar. 7 Non-vertebral skeletal, intra-spinal, cardiac and genitourinary abnormalities are common and require appropriate investigation.…”

Section: Aetiologymentioning

confidence: 99%

Paediatric scoliosis: Update on assessment and treatment

Parr¹,

Askin²

2020

Aust J Gen Pract

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Background Paediatric scoliosis is a common condition seen by general practitioners. Structural scoliosis is characterised by axial rotation at the apex. Several new operative treatments have recently been developed. Objective The aim of this article is to give an overview of scoliosis diagnosis, assessment and management. Discussion Scoliosis assessment should identify structural curves, underlying causes, severity and growth potential. Atypical curves and red flags must be excluded. Observation is appropriate for curves <20° in patients with high growth potential (Risser 0–2) and curves <40° in patients with minimal growth potential (Risser 3–5). Bracing is appropriate for patients with a curve of 20–40° with high growth potential. Indications for surgery vary depending on patient and curve factors; however, surgery can be indicated when the curve is >40°. Surgery can be divided into three groups: growth modulation, instrumentation without fusion and instrumentation with fusion. Early diagnosis and referral to a paediatric spine service can improve outcomes.

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“…Congenital scoliosis is caused by vertebral anomalies leading to mechanical deviation of regular spine architecture, while neuromuscular scoliosis is caused by neurological (e.g., cerebral palsy, paralysis) or muscular disease (e.g., Duchenne muscular dystrophy). Lateral deviations of the spine in conjunction with conditions such as Marfan syndrome or neurofibromatosis are grouped under syndrome-related scoliosis [9,10]. In some cases, scoliosis can occur secondary to, for example, tumors, spinal cord abnormalities, or as a result of pain [11,12].…”

Section: Introductionmentioning

confidence: 99%

Pediatric Scoliosis Surgery—A Comprehensive Analysis of Treatment-Specific Variables and Trends in Latvia

et al. 2020

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Background and Objectives: There are currently no data available regarding pediatric scoliosis surgery in Latvia. The aim of this article is to present treatment specific variables, investigate their interrelation, and identify predictors for the length of stay after surgical pediatric scoliosis correction. Materials and Methods: This retrospective study included all surgical pediatric scoliosis corrections in Latvia for the years 2012 to 2016. Analyzed parameters were chosen to portray the patients’ demographics, pathology, as well as treatment specific variables. Descriptive, inferential, and linear regression statistics were calculated. Results: A total of 69 cases, 74% female and 26% male, were identified. The diagnostic subgroups consisted of 62% idiopathic (IDI) and 38% non-idiopathic (non-IDI) scoliosis cases. Non-IDI cases had significantly increased operation time, hospital stay, Cobb angle before surgery, and instrumented levels, while IDI cases showed significantly higher Cobb angle percentage correction. For all operated cases, the operation time and the hospital stay decreased significantly over the investigated time period. Early post-operative complications (PCs) occurred in 15.9% of the cases and were associated with increased hospital stay, instrumented levels, and Cobb angle before surgery. The linear regression analysis revealed that operation time and the presence of PCs were significant predictors for the length of the hospital stay. Conclusions: This is the first study to provide comprehensive insight into pediatric scoliosis surgery since its establishment in Latvia. Our regression model offers clinically applicable predictors and further underlines the significance of the operation length on the hospital stay. These results build the foundation for international comparison and facilitate improvement in the field.

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A comprehensive review of the diagnosis and management of congenital scoliosis

Abstract: Congenital scoliosis is a complex spinal problem associated with many other anomalous findings. Treatment options are diverse but enable optimization of management and care of these children.

Cited by 46 publications

References 165 publications

Delta Like-1 Gene Mutation: A Novel Cause of Congenital Vertebral Malformation

Delta Like-1 Gene Mutation: A Novel Cause of Congenital Vertebral Malformation

Paediatric scoliosis: Update on assessment and treatment

Pediatric Scoliosis Surgery—A Comprehensive Analysis of Treatment-Specific Variables and Trends in Latvia

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