Metabolic sizing in individuals with short stature
Clinical Genetics and Therapeutics
-
Primary Categories:
- Clinical Genetics
-
Secondary Categories:
- Clinical Genetics
Introduction:
Skeletal dysplasias (SKDs) represent a group of conditions that often result in short stature with multi-organ involvement, which may have pre- or postnatal onset. Some SKDs are associated with a risk to develop hematologic or solid malignancies. Research in oncology and renal disease shows that body surface area (BSA) estimations (e.g., by Dubois equation) may not be accurate in all individuals which may lead to ineffective dosing of drugs, such as chemotherapeutics. BSA is also used as the basis for other measurements and calculations such as basal metabolic rate, aortic root diameter, stroke volume index, glomerular filtration rate, fluid and electrolyte balance, among others.
Although many studies have demonstrated that certain BSA formulae provide accurate estimates with their study populations, these were performed on limited and isolated groups of participants. Body composition varies widely in individuals with similar body mass and may not correlate with individual metabolic rates with sufficient accuracy to inform clinical decisions. Research in oncology and nephrology suggest that BSA estimations may not be accurate in all individuals which may lead to ineffective dosing of drugs.
One population that is likely to be impacted by body composition and BSA assumptions is individuals with short stature. Differences among calculations made by the formulae may be great enough to considerably affect patients’ mortality, especially for children, individuals on the extremes of the height distribution, or those with disproportionate body habitus. Advanced technologies may help improve our understanding of body composition, BSA, and energy needs in this and other populations living with altered body shapes and morphologies.
Our protocol, Study of Skeletal Disorders (ClinicalTrials.gov ID NCT05031507) is linked to Study of Metabolic Scaling (NCT05398783) to better characterize skeletal dysplasia in youth using direct measurements of body composition, BSA, and metabolic rate.
Methods:
We measure body composition with a three-dimensional body scanner, dual-energy x-ray absorptiometry, air displacement plethysmography, bioelectrical impedance spectroscopy, and anthropometric measurements. Basal metabolic rate is measured using an indirect calorimetry cart (ventilative hood). Measurements are then compared to estimations calculated by standard formulas.
Results:
Measurements are compared with population-based energy expenditure and BSA estimations. The first co-enrolled participant was a 6-year-old female with a diagnosis of Cartilage-Hair hypoplasia. Preliminary results showed up to a 40% difference when comparing theoretical estimates of resting metabolic rate with measured energy expenditure. Aortic root diameter Z-score also revealed up to a 45% difference when normalized to theorical versus measured BSA. BSA measurements had a 0.7% difference compared to the Dubois equation.
Conclusion:
Preliminary results from the initial participant showed similar measured versus theoretical BSA, but differences in measured versus theoretical aortic root diameter and resting energy requirements. Recruitment of additional participants will allow us to reach adequate power for statistical significance in this distinct yet heterogeneous population. We are seeking ambulatory individuals with short stature due to certain SKD diagnoses to co-enroll in these protocols. Our goal is to use this data to develop more accurate measurements in the short-statured population, which may lead to better diagnostic, therapeutic, and nutritional strategies. We aim to compare current formulae that predict estimated energy requirements and BSA for the general population with measured resting energy expenditure and BSA in individuals with short stature with the goal of creating a new BSA formula specifically for people with short stature due to SKDs.
Skeletal dysplasias (SKDs) represent a group of conditions that often result in short stature with multi-organ involvement, which may have pre- or postnatal onset. Some SKDs are associated with a risk to develop hematologic or solid malignancies. Research in oncology and renal disease shows that body surface area (BSA) estimations (e.g., by Dubois equation) may not be accurate in all individuals which may lead to ineffective dosing of drugs, such as chemotherapeutics. BSA is also used as the basis for other measurements and calculations such as basal metabolic rate, aortic root diameter, stroke volume index, glomerular filtration rate, fluid and electrolyte balance, among others.
Although many studies have demonstrated that certain BSA formulae provide accurate estimates with their study populations, these were performed on limited and isolated groups of participants. Body composition varies widely in individuals with similar body mass and may not correlate with individual metabolic rates with sufficient accuracy to inform clinical decisions. Research in oncology and nephrology suggest that BSA estimations may not be accurate in all individuals which may lead to ineffective dosing of drugs.
One population that is likely to be impacted by body composition and BSA assumptions is individuals with short stature. Differences among calculations made by the formulae may be great enough to considerably affect patients’ mortality, especially for children, individuals on the extremes of the height distribution, or those with disproportionate body habitus. Advanced technologies may help improve our understanding of body composition, BSA, and energy needs in this and other populations living with altered body shapes and morphologies.
Our protocol, Study of Skeletal Disorders (ClinicalTrials.gov ID NCT05031507) is linked to Study of Metabolic Scaling (NCT05398783) to better characterize skeletal dysplasia in youth using direct measurements of body composition, BSA, and metabolic rate.
Methods:
We measure body composition with a three-dimensional body scanner, dual-energy x-ray absorptiometry, air displacement plethysmography, bioelectrical impedance spectroscopy, and anthropometric measurements. Basal metabolic rate is measured using an indirect calorimetry cart (ventilative hood). Measurements are then compared to estimations calculated by standard formulas.
Results:
Measurements are compared with population-based energy expenditure and BSA estimations. The first co-enrolled participant was a 6-year-old female with a diagnosis of Cartilage-Hair hypoplasia. Preliminary results showed up to a 40% difference when comparing theoretical estimates of resting metabolic rate with measured energy expenditure. Aortic root diameter Z-score also revealed up to a 45% difference when normalized to theorical versus measured BSA. BSA measurements had a 0.7% difference compared to the Dubois equation.
Conclusion:
Preliminary results from the initial participant showed similar measured versus theoretical BSA, but differences in measured versus theoretical aortic root diameter and resting energy requirements. Recruitment of additional participants will allow us to reach adequate power for statistical significance in this distinct yet heterogeneous population. We are seeking ambulatory individuals with short stature due to certain SKD diagnoses to co-enroll in these protocols. Our goal is to use this data to develop more accurate measurements in the short-statured population, which may lead to better diagnostic, therapeutic, and nutritional strategies. We aim to compare current formulae that predict estimated energy requirements and BSA for the general population with measured resting energy expenditure and BSA in individuals with short stature with the goal of creating a new BSA formula specifically for people with short stature due to SKDs.
)
){kind=logo}
){kind=logo}
){kind=logo}
){kind=logo}
){kind=logo}
){kind=logo}
)
){kind=logo}
)
)
)
)
)
)
){kind=logo}
){kind=logo}
){kind=logo}