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Children
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Pediatric Growth and Skeletal Disorders
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Pediatric Growth and Skeletal Disorders

A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Pediatric Endocrinology & Diabetes".

Deadline for manuscript submissions: closed (20 June 2024) | Viewed by 2951

Special Issue Editor

Dr. Sasigarn A. Bowden

E-Mail Website
Guest Editor
Nationwide Children’s Hospital, Columbus, OH, USA
Interests: pediatric growth and skeletal disorders

Special Issue Information

Dear Colleagues,

We are excited to announce this Special Issue, “Pediatric Growth and Skeletal Disorders”, which aims to address the significant challenges posed by the complex pathogenesis and multifaceted nature of abnormal growth and bone development in children. Recent breakthroughs in research have propelled the field forward, unraveling the intricate mechanisms governing hormonal regulation and signaling pathways. Innovative therapeutic strategies, particularly targeted therapies for growth and skeletal disorders, are emerging as effective interventions that address the root causes of these disorders and promote optimal growth and bone health. These novel therapies offer improved options for managing pediatric growth and skeletal disorders with greater precision, leading to better outcomes.

This Special Issue aims to compile comprehensive and current reviews, along with original research articles, focusing on diagnosis and treatment. Additionally, we aspire to explore the emerging era of targeted therapies for children with growth and skeletal disorders. We eagerly anticipate receiving your valuable contributions to advance our knowledge in this exciting field.

Dr. Sasigarn A. Bowden
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Children is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2400 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • pediatrics
  • growth disorder
  • growth hormone
  • targeted therapy
  • hormone replacement therapy
  • skeletal dysplasia
  • metabolic bone disease
  • vitamin D
  • calcium
  • parathyroid hormone
  • bone resorption
  • bone formation
  • endocrine disorders
  • bisphosphonates
  • burosumab
  • asfotase alfa

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Published Papers (4 papers)

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Research

9 pages, 835 KiB  
Article
Accurate Prediction of Children’s Target Height from Their Mid-Parental Height
by Danny Zeevi, Adi Ben Yehuda, Dafna Nathan, David Zangen and Leonid Kruglyak
Children 2024, 11(8), 916; https://doi.org/10.3390/children11080916 - 30 Jul 2024
Viewed by 376
Abstract
Background: For the past 50 years, standard guidelines have recommended the use of sex-adjusted mid-parental height to predict a child’s final height. Here, we studied the accuracy of this procedure. Methods: We used height data in a cohort of 23 very large nuclear [...] Read more.
Background: For the past 50 years, standard guidelines have recommended the use of sex-adjusted mid-parental height to predict a child’s final height. Here, we studied the accuracy of this procedure. Methods: We used height data in a cohort of 23 very large nuclear families (mean = 11 adult children per family). We compared the actual final height of the children to their height predicted by the standard procedure, as well as to alternative height predictions that incorporate corrections of mid-parental height for age, sex, and regression to the mean. Results: Standard mid-parental height explained 36% of the variance in children’s heights, with a heritability of 74%, and children were on average 2.7 cm taller than predicted by their target heights. When we introduced a nonlinear correction for the age of the parents, employed a multiplicative (rather than additive) correction for sex, and accounted for regression to the mean, the variance explained increased to 40%, heritability increased to 80%, and prediction bias was reduced from 2.7 cm to 0.14 cm (representing an improvement in prediction by half a standard deviation of the height distribution). We further measured the empirical distribution of the heights of adult children around their predicted height. We describe how this distribution can be used to estimate the probability that a child’s height is within the normal expected range. Conclusions and Relevance: Based on these observations, we propose an improved method for predicting children’s target heights. Our procedure for determining whether the deviation of a child’s projected height from the target height is in the normal range can be used to assess whether the child should be tested further for potential medical abnormalities. Full article
(This article belongs to the Special Issue Pediatric Growth and Skeletal Disorders)
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11 pages, 6142 KiB  
Article
Sclerostin and Wnt Signaling in Idiopathic Juvenile Osteoporosis Using High-Resolution Confocal Microscopy for Three-Dimensional Analyses
by Renata C. Pereira, Kathleen J. Noche, Barbara Gales, Zhangying Chen, Isidro B. Salusky and Lauren V. Albrecht
Children 2024, 11(7), 820; https://doi.org/10.3390/children11070820 - 4 Jul 2024
Viewed by 536
Abstract
Background: Idiopathic juvenile osteoporosis (IJO) is a rare condition characterized by low bone mass that can increase the risk of fractures in children. Treatment options for these patients are limited as the molecular mechanisms of disease initiation and progression are incompletely understood. Sclerostin [...] Read more.
Background: Idiopathic juvenile osteoporosis (IJO) is a rare condition characterized by low bone mass that can increase the risk of fractures in children. Treatment options for these patients are limited as the molecular mechanisms of disease initiation and progression are incompletely understood. Sclerostin inhibits canonical Wnt signaling, which is important for the bone formation activity of osteoblasts, and elevated sclerostin has been implicated in adult osteoporosis. Objective: To evaluate the role of sclerostin in IJO, high-resolution confocal microscopy analyses were performed on bone biopsies collected from 13 pediatric patients. Methods: Bone biopsies were stained with sclerostin, and β-catenin antibodies showed elevated expression across osteocytes and increased sclerostin-positive osteocytes in 8 of the 13 total IJO patients (62%). Results: Skeletal sclerostin was associated with static and dynamic histomorphometric parameters. Further, colocalization analyses showed that bone sclerostin colocalized with phosphorylated β-catenin, a hallmark of Wnt signaling that indicates Wnt inhibition. In contrast, sclerostin-positive osteocytes were not colocalized with an “active” unphosphorylated form of β-catenin. Conclusions: These results support a model that altered levels of sclerostin and Wnt signaling activity occur in IJO patients. Full article
(This article belongs to the Special Issue Pediatric Growth and Skeletal Disorders)
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13 pages, 543 KiB  
Article
Consensus Guidelines for the Use of Vosoritide in Children with Achondroplasia in Australia
by Louise Tofts, Penny Ireland, Tracy Tate, Supriya Raj, Theresa Carroll, Craig F. Munns, Stephen Knipe, Katherine Langdon, Lesley McGregor, Fiona McKenzie, Andreas Zankl and Ravi Savarirayan
Children 2024, 11(7), 789; https://doi.org/10.3390/children11070789 - 28 Jun 2024
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Abstract
Background: Achondroplasia, the most prevalent skeletal dysplasia, stems from a functional mutation in the fibroblast growth factor receptor 3 gene, leading to growth impairment. This condition presents multifaceted medical, functional and psychosocial challenges throughout childhood, adolescence and adulthood. Current management strategies aim to [...] Read more.
Background: Achondroplasia, the most prevalent skeletal dysplasia, stems from a functional mutation in the fibroblast growth factor receptor 3 gene, leading to growth impairment. This condition presents multifaceted medical, functional and psychosocial challenges throughout childhood, adolescence and adulthood. Current management strategies aim to minimise medical complications, optimise functional capabilities and provide comprehensive supportive care. Vosoritide (trade name: VOXZOGO®, BioMarin Pharmaceuticals) is the first disease-modifying pharmaceutical treatment approved for the management of patients with achondroplasia and became available in Australia in May 2023. Methods: Standardised clinical guidelines for its optimal use are not yet widely available. To address this gap, a multidisciplinary Australian Vosoritide Working Group, comprising 12 experts with experience in achondroplasia management from across Australia, developed recommendations to guide the use of vosoritide in clinical practice. Results: The recommendations, which are expert opinions of the Australian Vosoritide Working Group, aim to (i) standardise the use of vosoritide across Australia, (ii) support the safe clinical rollout of vosoritide and (iii) support universal access. Conclusions: These recommendations have been developed for healthcare professionals and institutions that are engaged in using vosoritide in the management of achondroplasia and will be revised using a formal framework for clinical guideline development once more evidence is available. Full article
(This article belongs to the Special Issue Pediatric Growth and Skeletal Disorders)
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12 pages, 1350 KiB  
Article
Characterization of Primary IGF-1 Deficiency in a Cohort of Canadian Children with Short Stature Using a Novel Algorithm Tailored to Electronic Medical Records
by Rinila Haridas, Carly Baxter, Saunya Dover, Ellen B. Goldbloom, Ivan Terekhov and Marie-Eve Robinson
Children 2024, 11(6), 727; https://doi.org/10.3390/children11060727 - 14 Jun 2024
Viewed by 666
Abstract
(1) Background: Severe primary insulin-like growth factor-I deficiency (SPIGFD) is a rare disorder causing short stature in children due to low insulin-like growth factor 1 (IGF-1) levels. Given the sparsity of reported cases of SPIGFD worldwide, the condition may be underdiagnosed, potentially preventing [...] Read more.
(1) Background: Severe primary insulin-like growth factor-I deficiency (SPIGFD) is a rare disorder causing short stature in children due to low insulin-like growth factor 1 (IGF-1) levels. Given the sparsity of reported cases of SPIGFD worldwide, the condition may be underdiagnosed, potentially preventing affected children from receiving therapy with recombinant human IGF-1 (rhIGF-1). Our objective was to determine the prevalence of SPIGFD among children with short stature at a large pediatric tertiary care center through the use of a novel electronic medical record (EMR) algorithm. (2) Methods: We queried our EMR using an algorithm that detected all children seen at our center between 1 November 2013 and 31 August 2021 with short stature and low IGF-1. We then conducted chart reviews, applying established diagnostic criteria for those identified with potential SPIGFD. (3) Results: From a cohort of 4863 children with short stature, our algorithm identified 30 (0.6%) patients with potential SPIGFD. Using chart reviews, we determined that none of these patients had SPIGFD. (4) Conclusions: Our algorithm can be used in other EMRs to identify which patients are likely to have SPIGFD and thus benefit from treatment with rhIGF-1. This model can be replicated for other rare diseases. Full article
(This article belongs to the Special Issue Pediatric Growth and Skeletal Disorders)
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