Dataset Information

Clinical charts for surveillance of growth and body proportion development in achondroplasia and examples of their use.

ABSTRACT: Clinical surveillance of infants and children with achondroplasia necessitates syndrome-specific charts due to extreme short stature with deviating body proportions. Height, arm span and leg length develop far below normal population ranges. We present growth and body proportion charts for ages 0-20?years, constructed from semi-longitudinal standardized measurements of about 450 children, along with some examples of achondroplasia typical and atypical growth pattern. We combine head circumference, height and weight for 0-4?years into one (infancy) page and height and weight for 4-20?years in another (childhood-adolescence) using nonlinear axes to account for the rapidly decreasing growth velocity. Similarly, weight and BMI are based on nonlinear axes to balance wide SD-channels at higher and narrow SD-channels at lower levels of weight/BMI. Charts for following sitting height, sitting height/height ratio, arm span, leg and foot length are also presented. Clinical examples illustrating the applicability of the charts include cases of extreme prematurity, extreme head circumference development before and after shunting, achondroplasia complicated by chromosomal or additional genetic abnormality and by growth hormone deficiency as well as of evaluating growth promoting therapy.

SUBMITTER: Neumeyer L

PROVIDER: S-EPMC7839678 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature

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Clinical charts for surveillance of growth and body proportion development in achondroplasia and examples of their use.

Neumeyer Luitgard L Merker Andrea A Hagenäs Lars L

American journal of medical genetics. Part A 20201121 2

Clinical surveillance of infants and children with achondroplasia necessitates syndrome-specific charts due to extreme short stature with deviating body proportions. Height, arm span and leg length develop far below normal population ranges. We present growth and body proportion charts for ages 0-20 years, constructed from semi-longitudinal standardized measurements of about 450 children, along with some examples of achondroplasia typical and atypical growth pattern. We combine head circumferenc ...[more]

PMID: 33220165

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Project description:BACKGROUND: Growth charts based on data collected in different populations and time periods are key tools to assess children's linear growth. We analyzed the impact of geographic factors and the secular trend on height-for-age charts currently used in European populations, developed up-to-date European growth charts, and studied the effect of using different charts in a sample of growth retarded children. METHODS AND FINDINGS: In an international survey we obtained 18 unique national height-for-age charts from 28 European countries and compared them with charts from the World Health Organization (WHO), Euro-Growth reference, and Centers of Disease Control and Prevention (CDC). As an example, we obtained height data from 3,534 children with end-stage renal disease (ESRD) from 13 countries via the ESPN/ERA-EDTA registry, a patient group generally suffering from growth retardation. National growth charts showed a clear secular trend in height (mean height increased on average 0.6 cm/decade) and a North-South height gradient in Europe. For countries without a recent (>1990) national growth chart novel European growth charts were constructed from Northern and Southern European reference populations, reflecting geographic height differences in mean final height of 3.9 cm in boys and 3.8 cm in girls. Mean height SDS of 2- to 17-year-old ESRD patients calculated from recent national or derived European growth charts (-1.91, 95% CI: -1.97 to -1.85) was significantly lower than when using CDC or WHO growth charts (-1.55, 95% CI: -1.61 to -1.49) (P<0.0001). CONCLUSION: Differences between height-for-age charts may reflect true population differences, but are also strongly affected by the secular trend in height. The choice of reference charts substantially affects the clinical decision whether a child is considered short-for-age. Therefore, we advocate using recent national or European height-for-age charts derived from recent national data when monitoring growth of healthy and diseased European children.

Project description:BackgroundMowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and multiple organ malformations of which congenital heart defects and urogenital anomalies are the most frequent ones. To date, a clear description of the physical development of MWS patients does not exist. The aim of this study is to provide up-to-date growth charts specific for infants and children with MWS. Charts for males and females aged from 0 to 16 years were generated using a total of 2865 measurements from 99 MWS patients of different ancestries. All data were collected through extensive collaborations with the Italian MWS association (AIMW) and the MWS Foundation. The GAMLSS package for the R statistical computing software was used to model the growth charts. Height, weight, body mass index (BMI) and head circumference were compared to those from standard international growth charts for healthy children.ResultsIn newborns, weight and length were distributed as in the general population, while head circumference was slightly smaller, with an average below the 30th centile. Up to the age of 7 years, weight and height distribution was shifted to slightly lower values than in the general population; after that, the difference increased further, with 50% of the affected children below the 5th centile of the general population. BMI distribution was similar to that of non-affected children until the age of 7 years, at which point values in MWS children increased with a less steep slope, particularly in males. Microcephaly was sometimes present at birth, but in most cases it developed gradually during infancy; many children had a small head circumference, between the 3rd and the 10th centile, rather than being truly microcephalic (at least 2 SD below the mean). Most patients were of slender build.ConclusionsThese charts contribute to the understanding of the natural history of MWS and should assist pediatricians and other caregivers in providing optimal care to MWS individuals who show problems related to physical growth. This is the first study on growth in patients with MWS.

Project description:BackgroundObesity leads to other fatal diseases like diabetes, cardiovascular diseases, depression, and some forms of cancer. Still, the well-known tool to measure obesity is the body mass index. But it usually failed in the measurement of adipose tissues. So, we present a novel anthropometric measure, called body shape and size index which is developed by the combination of major anthropometric determinants: body surface area, body mass index, weight, and height.MethodsThis study is based on cross-sectional data consisting of 7224 individuals that were taken from the city Multan, Punjab, Pakistan. All the individuals, both males, and females, of age 2 years and above were included in the study except the pregnant women. The variables included in this study are gender, area (urban and rural), age (years), weight (kg), and height (meters). Growth charts of quantile regression are used for the inferential analysis of data. Comparison of proposed body shape and size index at different obesity levels has also been made to access the relationship of proposed body shape and size index with obesity.ResultsThe results show that the proposed body shape and size index has a great association with body surface area, body mass index, weight, height, and age. The proposed body shape and size index has a high negative association with body surface area, moderate negative association with body mass index and weight, and low negative association with height and age. According to growth charts of body shape and size index, after the age of 25 years, body shape and size index curves go upward while it smoothly goes downward at the age of 50 years but decreases in earlier ages. Body shape and size index showed a significant association with body shape and body size (body development) at the same time.ConclusionBody shape and size index is found, generally linear with age, and increased with decreasing body mass index and body surface area. The proposed index has an indirect relationship with obesity. Body shape and size index with low values indicates a high risk of obesity. While, however, body shape and size index with high values indicates a low risk of obesity. Applications of the proposed body shape and size index are also presented in statistical modeling.

Dataset Information

Clinical charts for surveillance of growth and body proportion development in achondroplasia and examples of their use.

Publications

Clinical charts for surveillance of growth and body proportion development in achondroplasia and examples of their use.

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