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Clinical Observations and Treatment Approaches for Scoliosis in Prader–Willi Syndrome
Prader–Willi syndrome (PWS) is recognized as the first example of genomic imprinting, generally due to a de novo paternal 15q11-q13 deletion. PWS is considered the most common genetic cause of marked obesity in humans. Scoliosis, kyphosis, and kyphoscoliosis are commonly seen in children and adolesc...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140837/ https://www.ncbi.nlm.nih.gov/pubmed/32121146 http://dx.doi.org/10.3390/genes11030260 |
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author | van Bosse, Harold J.P. Butler, Merlin G. |
author_facet | van Bosse, Harold J.P. Butler, Merlin G. |
author_sort | van Bosse, Harold J.P. |
collection | PubMed |
description | Prader–Willi syndrome (PWS) is recognized as the first example of genomic imprinting, generally due to a de novo paternal 15q11-q13 deletion. PWS is considered the most common genetic cause of marked obesity in humans. Scoliosis, kyphosis, and kyphoscoliosis are commonly seen in children and adolescents with PWS with a prevalence of spinal deformities cited between 15% to 86%. Childhood risk is 70% or higher, until skeletal maturity, with a bimodal age distribution with one peak before 4 years of age and the other nearing adolescence. As few reports are available on treating scoliosis in PWS, we described clinical observations, risk factors, therapeutic approaches and opinions regarding orthopedic care based on 20 years of clinical experience. Treatments include diligent radiographic screening, starting once a child can sit independently, ongoing physical therapy, and options for spine casting, bracing and surgery, depending on the size of the curve, and the child’s age. Similarly, there are different surgical choices including a spinal fusion at or near skeletal maturity, versus a construct that allows continued growth while controlling the curve for younger patients. A clear understanding of the risks involved in surgically treating children with PWS is important and will be discussed. |
format | Online Article Text |
id | pubmed-7140837 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-71408372020-04-10 Clinical Observations and Treatment Approaches for Scoliosis in Prader–Willi Syndrome van Bosse, Harold J.P. Butler, Merlin G. Genes (Basel) Review Prader–Willi syndrome (PWS) is recognized as the first example of genomic imprinting, generally due to a de novo paternal 15q11-q13 deletion. PWS is considered the most common genetic cause of marked obesity in humans. Scoliosis, kyphosis, and kyphoscoliosis are commonly seen in children and adolescents with PWS with a prevalence of spinal deformities cited between 15% to 86%. Childhood risk is 70% or higher, until skeletal maturity, with a bimodal age distribution with one peak before 4 years of age and the other nearing adolescence. As few reports are available on treating scoliosis in PWS, we described clinical observations, risk factors, therapeutic approaches and opinions regarding orthopedic care based on 20 years of clinical experience. Treatments include diligent radiographic screening, starting once a child can sit independently, ongoing physical therapy, and options for spine casting, bracing and surgery, depending on the size of the curve, and the child’s age. Similarly, there are different surgical choices including a spinal fusion at or near skeletal maturity, versus a construct that allows continued growth while controlling the curve for younger patients. A clear understanding of the risks involved in surgically treating children with PWS is important and will be discussed. MDPI 2020-02-28 /pmc/articles/PMC7140837/ /pubmed/32121146 http://dx.doi.org/10.3390/genes11030260 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review van Bosse, Harold J.P. Butler, Merlin G. Clinical Observations and Treatment Approaches for Scoliosis in Prader–Willi Syndrome |
title | Clinical Observations and Treatment Approaches for Scoliosis in Prader–Willi Syndrome |
title_full | Clinical Observations and Treatment Approaches for Scoliosis in Prader–Willi Syndrome |
title_fullStr | Clinical Observations and Treatment Approaches for Scoliosis in Prader–Willi Syndrome |
title_full_unstemmed | Clinical Observations and Treatment Approaches for Scoliosis in Prader–Willi Syndrome |
title_short | Clinical Observations and Treatment Approaches for Scoliosis in Prader–Willi Syndrome |
title_sort | clinical observations and treatment approaches for scoliosis in prader–willi syndrome |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140837/ https://www.ncbi.nlm.nih.gov/pubmed/32121146 http://dx.doi.org/10.3390/genes11030260 |
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