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Incidence of hip problems in developmental central hypotonia : A scoping review

Livingstone, Roslyn W. ; Paleg, Ginny S. ; Shrader, M. Wade ; Miller, Freeman and Rodby-Bousquet, Elisabet LU orcid (2024) In Developmental Medicine and Child Neurology
Abstract

Aim: To describe what is known about hip problems in individuals with developmental central hypotonia. Method: Searches were conducted in five databases to October 2023. Down syndrome was excluded from this analysis of less well-known genetic diagnoses. At least two reviewers independently screened titles, abstracts, read full-text articles, and extracted data. Results: Of 89 full-text articles, 79 met inclusion criteria. Studies included 544 individuals aged 1 month to 63 years with Kabuki, 49, XXXXY, Prader–Willi, PURA, Koolen de Vries, Emanuel, TRPM3, Wolf–Hirschhorn, and other rare syndromes. Most diagnoses may be associated with a combination of differences in hip structure or stability that are evident at birth, or develop in... (More)

Aim: To describe what is known about hip problems in individuals with developmental central hypotonia. Method: Searches were conducted in five databases to October 2023. Down syndrome was excluded from this analysis of less well-known genetic diagnoses. At least two reviewers independently screened titles, abstracts, read full-text articles, and extracted data. Results: Of 89 full-text articles, 79 met inclusion criteria. Studies included 544 individuals aged 1 month to 63 years with Kabuki, 49, XXXXY, Prader–Willi, PURA, Koolen de Vries, Emanuel, TRPM3, Wolf–Hirschhorn, and other rare syndromes. Most diagnoses may be associated with a combination of differences in hip structure or stability that are evident at birth, or develop in early infancy, with increasing hip dysplasia and subluxation over time. Joint or ligamentous laxity was most reported along with hypotonia and hypermobility as risk factors. Limited data were identified about conservative or surgical intervention and outcomes in these populations. Interpretation: Children with significant hypotonia, with or without a confirmed genetic diagnosis, are at increased risk of hip problems that may be missed with standard neonatal screening. Ultrasound is recommended between 6 weeks and 6 months, and annual orthopaedic review with regular radiographs for older children and adults with significant and persistent hypotonia.

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Contribution to journal
publication status
epub
subject
in
Developmental Medicine and Child Neurology
publisher
Wiley-Blackwell
external identifiers
  • scopus:85206926376
  • pmid:39429029
ISSN
0012-1622
DOI
10.1111/dmcn.16124
language
English
LU publication?
yes
additional info
Publisher Copyright: © 2024 The Author(s). Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.
id
32daffd7-c505-40d0-b340-0cd91664619f
date added to LUP
2024-12-17 10:42:58
date last changed
2025-07-16 03:26:49
@article{32daffd7-c505-40d0-b340-0cd91664619f,
  abstract     = {{<p>Aim: To describe what is known about hip problems in individuals with developmental central hypotonia. Method: Searches were conducted in five databases to October 2023. Down syndrome was excluded from this analysis of less well-known genetic diagnoses. At least two reviewers independently screened titles, abstracts, read full-text articles, and extracted data. Results: Of 89 full-text articles, 79 met inclusion criteria. Studies included 544 individuals aged 1 month to 63 years with Kabuki, 49, XXXXY, Prader–Willi, PURA, Koolen de Vries, Emanuel, TRPM3, Wolf–Hirschhorn, and other rare syndromes. Most diagnoses may be associated with a combination of differences in hip structure or stability that are evident at birth, or develop in early infancy, with increasing hip dysplasia and subluxation over time. Joint or ligamentous laxity was most reported along with hypotonia and hypermobility as risk factors. Limited data were identified about conservative or surgical intervention and outcomes in these populations. Interpretation: Children with significant hypotonia, with or without a confirmed genetic diagnosis, are at increased risk of hip problems that may be missed with standard neonatal screening. Ultrasound is recommended between 6 weeks and 6 months, and annual orthopaedic review with regular radiographs for older children and adults with significant and persistent hypotonia.</p>}},
  author       = {{Livingstone, Roslyn W. and Paleg, Ginny S. and Shrader, M. Wade and Miller, Freeman and Rodby-Bousquet, Elisabet}},
  issn         = {{0012-1622}},
  language     = {{eng}},
  publisher    = {{Wiley-Blackwell}},
  series       = {{Developmental Medicine and Child Neurology}},
  title        = {{Incidence of hip problems in developmental central hypotonia : A scoping review}},
  url          = {{http://dx.doi.org/10.1111/dmcn.16124}},
  doi          = {{10.1111/dmcn.16124}},
  year         = {{2024}},
}