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An analysis of body proportions in children with CHARGE syndrome using photogrammetric anthropometry.

ABSTRACT: BACKGROUND:Growth retardation is one of the main hallmarks of CHARGE syndrome (CS), yet little is known about the body proportions of these children. Knowledge of body proportions in CS may contribute to a better characterization of this syndrome. This knowledge is important when considering starting growth-stimulating therapy. METHODS:For this cross-sectional study, we selected 32 children with CS and a CHD7 mutation at the Dutch CHARGE Family Day in 2016 or 2017 and the International CHARGE conference in Orlando, Florida, in 2017. We used photogrammetric anthropometry-a measurement method based on digital photographs-to determine various body proportions. We compared these to measurements in 21 normally proportioned children with growth hormone deficiency, using independent-samples t test, Mann-Whitney U test, or chi-square test as appropriate. RESULTS:Children with CS appear to have a shorter trunk in proportion to their height, head length, and arm length. Children with CS also had smaller feet proportional to tibia length compared to controls. The change of body proportions with age was similar in children with CS and controls. CONCLUSION:Body proportions in children with CS are significantly different from those of normally proportioned controls, but a similar change of body proportions with age was noted for both groups.

SUBMITTER: Penders B

PROVIDER: S-EPMC6771509 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature

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An analysis of body proportions in children with CHARGE syndrome using photogrammetric anthropometry.

Penders Bas B Dijk Dieuwerke R DR Bocca Gianni G Zimmermann Luc J I LJI van Ravenswaaij-Arts Conny M A CMA Gerver Willem-Jan M WM

American journal of medical genetics. Part A 20190527 8

<h4>Background</h4>Growth retardation is one of the main hallmarks of CHARGE syndrome (CS), yet little is known about the body proportions of these children. Knowledge of body proportions in CS may contribute to a better characterization of this syndrome. This knowledge is important when considering starting growth-stimulating therapy.<h4>Methods</h4>For this cross-sectional study, we selected 32 children with CS and a CHD7 mutation at the Dutch CHARGE Family Day in 2016 or 2017 and the Internat ...[more]

PMID: 31134750

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Project description:CHARGE syndrome (CS) is a rare congenital syndrome characterized by coloboma, heart anomaly, choanal atresia, retardation of growth and development, and genital and ear anomalies. While several neuroimaging studies have revealed abnormalities such as hypoplasia of the semicircular canal, olfactory nerve, cerebellum, and brainstem, no quantitative analysis of brain morphology in CS has been reported. We quantitatively investigated brain morphology in CS participants using structural magnetic resonance imaging (MRI) (N = 10, mean age 14.7 years old) and high-angular resolution diffusion MRI (HARDI) tractography (N = 8, mean age 19.4 years old) comparing with gender- and age-matched controls. Voxel-based analyses revealed decreased volume of the bilateral globus pallidus (left and right; p = 0.021 and 0.029), bilateral putamen (p = 0.016 and 0.011), left subthalamic nucleus (p = 0.012), bilateral cerebellum (p = 1.5 × 10-6 and 1.2 × 10-6), and brainstem (p = 0.031), and the enlargement of the lateral ventricles (p = 0.011 and 0.0031) bilaterally in CS. Surface-based analysis revealed asymmetrically increased cortical thickness in the right hemisphere (p = 0.013). The group-wise differences observed in global cortical volume, gyrification index, and left cortical thickness were not statistically significant. HARDI tractography revealed reduced volume, elongation, and higher ADC values in multiple fiber tracts in patients in CS compared to the controls, but FA values were not statistically significantly different between the two groups. Facial features are known to be asymmetric in CS, which has been recognized as an important symptom in CS. Our results revealed that the cortex in CS has an asymmetric appearance similar to the facial features. In addition, the signal pattern of high ADC with statistically unchanged FA values of tractography pathways indicated the presence of other pathogenesis than vasogenic edema or myelination dysfunction in developmental delay in CS.

Project description:PurposeThe determinants of physical fitness in children have been given limited attention. In particular, the relative role of chronological age, sex, anthropometry, and body composition in physical fitness of children has been barely investigated. This cross-sectional study investigated determinants of physical fitness using a set of predictive variables including, in addition to chronological age and sex, a large panel of anthropometric measurements as well as body composition. The study was carried out in a convenience sample of children aged 6-12 participating in a summer camp.MethodsOne-hundred-ninety-three children (128 males) fulfilled all requirements and entered analysis. Health-related physical fitness components (speed, muscular power and balance) were explored by means of field tests, namely the 30-m dash test for running speed, the standing long jump and the seated chest pass test for lower limbs and upper body muscular power, respectively, and the flamingo balance test for static balance. Determinants of physical fitness were investigated by regression analysis using chronological age, sex, anthropometry, and body composition in a hierarchical approach. To minimize the expected effect of collinearity in predictor variables, an original statistical approach using Random Forests analysis was adopted.ResultsAge predicted 45.2%, 43.6%, 35.6% and 25.6%; and sex 9.5%, 10.7%, 6.3% and 2.0% of variance in the 30-m dash, seated chest pass, standing long jump, and flamingo balance test, respectively. Anthropometry and body composition explained a limited or no percentage of variance. The adjusted R 2 (root mean square error) was 0.61 (0.31 s), 0.45 (0.32 m), 0.58 (0.15 m) and 0.41 (0.75 logs) for the 30-m dash, seated chest pass, standing long jump, and flamingo balance test, respectively making these models useful when physical fitness tests are not feasible.ConclusionsWe highlighted the respective role of chronological age, sex, anthropometry, and body composition in physical fitness of children in the wide age range 6-12 years. Data confirm and expand on previous literature by showing with a strictly conservative statistical approach that chronological age is a main determinant of physical fitness of both boys and girls, sex playing a limited role. The role of anthropometry was even less important, and no role was found for body composition. These findings should be considered when planning/implementing motor development or physical education programs.

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An analysis of body proportions in children with CHARGE syndrome using photogrammetric anthropometry.

Publications

An analysis of body proportions in children with CHARGE syndrome using photogrammetric anthropometry.

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