22q11.2 Deletion Syndrome as a Human Model for Idiopathic Scoliosis

To better understand the etiology of idiopathic scoliosis, prospective research into the pre-scoliotic state is required, but this research is practically impossible to carry out in the general population. The use of ‘models’, such as idiopathic-like scoliosis established in genetically modified ani...

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Autores principales:	Steven de Reuver, Jelle F. Homans, Tom P. C. Schlösser, Michiel L. Houben, Vincent F. X. Deeney, Terrence B. Crowley, Ralf Stücker, Saba Pasha, Moyo C. Kruyt, Donna M. McDonald-McGinn, René M. Castelein
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	idiopathic scoliosis 22q11.2 deletion syndrome human model neuromuscular scoliosis radiography MRI Medicine R
Acceso en línea:	https://doaj.org/article/be9df3a16ef045b497231cab9e74199d
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spelling	oai:doaj.org-article:be9df3a16ef045b497231cab9e74199d2021-11-11T17:29:40Z22q11.2 Deletion Syndrome as a Human Model for Idiopathic Scoliosis10.3390/jcm102148232077-0383https://doaj.org/article/be9df3a16ef045b497231cab9e74199d2021-10-01T00:00:00Zhttps://www.mdpi.com/2077-0383/10/21/4823https://doaj.org/toc/2077-0383To better understand the etiology of idiopathic scoliosis, prospective research into the pre-scoliotic state is required, but this research is practically impossible to carry out in the general population. The use of ‘models’, such as idiopathic-like scoliosis established in genetically modified animals, may elucidate certain elements, but their translatability to the human situation is questionable. The 22q11.2 deletion syndrome (22q11.2DS), with a 20-fold increased risk of developing scoliosis, may be a valuable and more relevant alternative and serve as a human ‘model’ for idiopathic scoliosis. This multicenter study investigates the morphology, dynamic behavior, and presence of intraspinal anomalies in patients with 22q11.2DS and scoliosis compared to idiopathic scoliosis. Scoliosis patients with 22q11.2DS and spinal radiography (<i>n</i> = 185) or MRI (<i>n</i> = 38) were included (mean age 11.6 ± 4.2; median Cobb angle 16°) and compared to idiopathic scoliosis patients from recent literature. Radiographic analysis revealed that 98.4% of 22q11.2DS patients with scoliosis had a curve morphology following predefined criteria for idiopathic curves: eight or fewer vertebrae, an S-shape and no inclusion of the lowest lumbar vertebrae. Furthermore, curve progression was present in 54.2%, with a mean progression rate of 2.5°/year, similar to reports on idiopathic scoliosis with 49% and 2.2–9.6°/year. The prevalence of intraspinal anomalies on MRI was 10.5% in 22q11.2DS, which is also comparable to 11.4% reported for idiopathic scoliosis. This indicates that 22q11.2DS may be a good model for prospective studies to better understand the etiology of idiopathic scoliosis.Steven de ReuverJelle F. HomansTom P. C. SchlösserMichiel L. HoubenVincent F. X. DeeneyTerrence B. CrowleyRalf StückerSaba PashaMoyo C. KruytDonna M. McDonald-McGinnRené M. CasteleinMDPI AGarticleidiopathic scoliosis22q11.2 deletion syndromehuman modelneuromuscular scoliosisradiographyMRIMedicineRENJournal of Clinical Medicine, Vol 10, Iss 4823, p 4823 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	idiopathic scoliosis 22q11.2 deletion syndrome human model neuromuscular scoliosis radiography MRI Medicine R
spellingShingle	idiopathic scoliosis 22q11.2 deletion syndrome human model neuromuscular scoliosis radiography MRI Medicine R Steven de Reuver Jelle F. Homans Tom P. C. Schlösser Michiel L. Houben Vincent F. X. Deeney Terrence B. Crowley Ralf Stücker Saba Pasha Moyo C. Kruyt Donna M. McDonald-McGinn René M. Castelein 22q11.2 Deletion Syndrome as a Human Model for Idiopathic Scoliosis
description	To better understand the etiology of idiopathic scoliosis, prospective research into the pre-scoliotic state is required, but this research is practically impossible to carry out in the general population. The use of ‘models’, such as idiopathic-like scoliosis established in genetically modified animals, may elucidate certain elements, but their translatability to the human situation is questionable. The 22q11.2 deletion syndrome (22q11.2DS), with a 20-fold increased risk of developing scoliosis, may be a valuable and more relevant alternative and serve as a human ‘model’ for idiopathic scoliosis. This multicenter study investigates the morphology, dynamic behavior, and presence of intraspinal anomalies in patients with 22q11.2DS and scoliosis compared to idiopathic scoliosis. Scoliosis patients with 22q11.2DS and spinal radiography (<i>n</i> = 185) or MRI (<i>n</i> = 38) were included (mean age 11.6 ± 4.2; median Cobb angle 16°) and compared to idiopathic scoliosis patients from recent literature. Radiographic analysis revealed that 98.4% of 22q11.2DS patients with scoliosis had a curve morphology following predefined criteria for idiopathic curves: eight or fewer vertebrae, an S-shape and no inclusion of the lowest lumbar vertebrae. Furthermore, curve progression was present in 54.2%, with a mean progression rate of 2.5°/year, similar to reports on idiopathic scoliosis with 49% and 2.2–9.6°/year. The prevalence of intraspinal anomalies on MRI was 10.5% in 22q11.2DS, which is also comparable to 11.4% reported for idiopathic scoliosis. This indicates that 22q11.2DS may be a good model for prospective studies to better understand the etiology of idiopathic scoliosis.
format	article
author	Steven de Reuver Jelle F. Homans Tom P. C. Schlösser Michiel L. Houben Vincent F. X. Deeney Terrence B. Crowley Ralf Stücker Saba Pasha Moyo C. Kruyt Donna M. McDonald-McGinn René M. Castelein
author_facet	Steven de Reuver Jelle F. Homans Tom P. C. Schlösser Michiel L. Houben Vincent F. X. Deeney Terrence B. Crowley Ralf Stücker Saba Pasha Moyo C. Kruyt Donna M. McDonald-McGinn René M. Castelein
author_sort	Steven de Reuver
title	22q11.2 Deletion Syndrome as a Human Model for Idiopathic Scoliosis
title_short	22q11.2 Deletion Syndrome as a Human Model for Idiopathic Scoliosis
title_full	22q11.2 Deletion Syndrome as a Human Model for Idiopathic Scoliosis
title_fullStr	22q11.2 Deletion Syndrome as a Human Model for Idiopathic Scoliosis
title_full_unstemmed	22q11.2 Deletion Syndrome as a Human Model for Idiopathic Scoliosis
title_sort	22q11.2 deletion syndrome as a human model for idiopathic scoliosis
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/be9df3a16ef045b497231cab9e74199d
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22q11.2 Deletion Syndrome as a Human Model for Idiopathic Scoliosis

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