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

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.

Body proportions in children with Kabuki syndrome.

Facial characteristics, short stature, and skeletal anomalies have been described for the clinical diagnosis of Kabuki Syndrome (KS) in children. However, no studies have investigated body proportions in KS. Knowledge of body proportions in KS may contribute to better insight into the growth pattern and characterization of this genetic disorder. Therefore we compared body proportions of children with KS to normally proportioned controls to investigate if atypical body proportions are part of this genetic disorder. This study was designed and conducted within the setting of the Maastricht University Medical Centre (MUMC+), the official Dutch expert center for Kabuki syndrome. We conducted a cross-sectional study in 32 children (11 children with KS and 21 controls). Body proportions were determined by means of photogrammetric anthropometry, measurements based on digital photography. Body proportions, quantified as body ratios, differ significantly in children with KS from normally proportioned children. Children with KS have larger heads and longer arms proportional to their trunks and have been found to have longer upper arms proportional to their tibia length and feet. Based on deviations in body proportions it was shown possible to discern children with KS from normally proportioned controls.

Association of TSH With Cardiovascular Disease Risk in Overweight and Obese Children During Lifestyle Intervention.

Context: Overweight and obese children have an increased risk to develop cardiovascular diseases (CVDs) in which thyroid-stimulating hormone (TSH) has been suggested as an intermediary factor. However, results of cross-sectional studies are inconclusive, and intervention studies investigating changes in TSH concentrations in association with changes in cardiovascular risk parameters in overweight and obese children are scarce. Objective: To gain insight in associations of circulating TSH concentrations and cardiovascular risk parameters in overweight and obese children. Design: Nonrandomized lifestyle intervention. Setting: Centre for Overweight Adolescent and Children's Healthcare. Patients: Three hundred thirty euthyroid overweight and obese children. Intervention: Long-term lifestyle intervention. Main Outcome Measures: TSH concentrations, pituitary TSH release in response to thyrotropin-releasing hormone (TRH), and cardiovascular risk parameters. Results: At baseline, serum total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), triacylglycerol (TAG), and monocyte chemotactic protein 1 concentrations were significantly associated with serum TSH concentrations. TSH release by the pituitary in response to exogenous TRH was not associated with cardiovascular risk parameters. During lifestyle intervention, several cardiovascular risk parameters significantly improved. In children whose body mass index z score improved, changes in TSH concentrations were significantly associated with changes in TC, LDL-C, and TAG concentrations. Conclusions: In euthyroid overweight and obese children, circulating TSH concentrations are positively associated with markers representing increased CVD risk. Changes in TSH concentrations are also associated with changes in lipid concentrations in children with successful weight loss, which is consistent with TSH being an intermediary factor in modulating lipid and lipoprotein metabolism.

Pituitary response to thyrotropin releasing hormone in children with overweight and obesity.

Thyroid stimulating hormone (TSH) concentrations in the high normal range are common in children with overweight and obesity, and associated with increased cardiovascular disease risk. Prior studies aiming at unravelling the mechanisms underlying these high TSH concentrations mainly focused on factors promoting thyrotropin releasing hormone (TRH) production as a cause for high TSH concentrations. However, it is unknown whether TSH release of the pituitary in response to TRH is affected in children with overweight and obesity. Here we describe TSH release of the pituitary in response to exogenous TRH in 73 euthyroid children (39% males) with overweight or (morbid) obesity. Baseline TSH concentrations (0.9-5.5 mU/L) were not associated with BMI z score, whereas these concentrations were positively associated with TSH concentrations 20 minutes after TRH administration (r(2) = 0.484, p < 0.001) and the TSH incremental area under the curve during the TRH stimulation test (r(2) = 0.307, p < 0.001). These results suggest that pituitary TSH release in response to TRH stimulation might be an important factor contributing to high normal serum TSH concentrations, which is a regular finding in children with overweight and obesity. The clinical significance and the intermediate factors contributing to pituitary TSH release need to be elucidated in future studies.

Validating Paediatric Morphometrics: body proportion measurement using photogrammetric anthropometry.

BACKGROUND: Taking multiple anthropometric measurements for the description of body proportions in an accurate way is a time-consuming procedure that requires specific tools and skills. This is why we developed an alternative method based on digital photography for taking these measurements which is faster and easier to use, to make anthropometry more user-friendly and approachable to paediatricians. METHODS: We conducted a cross-sectional study in 54 children between 2 and 18 years of age. We compared manual measurements with photogrammetric measurements to validate our method. RESULTS: Inter-observer correlations of all measurements are ≥0.96 and mean differences are 0.3-0.9 cm, except for arm span. Comparison of manual to photogrammetric measurements shows mean differences of 0.6-1.3 cm, with correlations ≥0.92, except for sitting height and arm span. Correlations of ratios between methods are height/sitting height (r=0.77), biacromium/biiliacum (r=0.74) and subischial leg length/sitting height (r=0.75). CONCLUSION: Photogrammetric anthropometry is faster, easier to use and provides the paediatrician with more flexibility as taking the digital photographs and performing the analysis are separated.