Anthropometric and nutritional parameters in Egyptian children and adolescents with osteogenesis imperfecta

Area of Science:

• Pediatric Endocrinology
• Nutritional Science
• Genetics and Rare Diseases

Background:

• Osteogenesis imperfecta (OI) is a genetic disorder characterized by brittle bones, often accompanied by short stature and nutritional challenges.
• Understanding the specific anthropometric and nutritional profiles across different OI types is crucial for effective patient management.
• Previous research indicates variability in growth and nutritional status, but detailed comparisons among OI subtypes are needed.

Purpose of the Study:

• To evaluate and compare anthropometric measurements and nutritional parameters in children diagnosed with osteogenesis imperfecta (OI) types I, III, and IV.
• To investigate the variability of these parameters across different classifications of OI.
• To establish a baseline for understanding the nutritional and growth impacts of OI subtypes.

Main Methods:

• Eighty-four pediatric patients with OI (types I, III, and IV) underwent comprehensive anthropometric assessments, including height, sitting height, arm span, weight, and head circumference.
• Calculations included standard deviation scores (SDSs) for height, sitting height, weight, body mass index (BMI), and head circumference, alongside relative arm span.
• Nutritional status was assessed through skinfold thickness measurements (triceps and subscapular), mid-upper arm circumference, and detailed dietary intake analysis of macronutrients and calcium, with energy requirements calculated.

Main Results:

• Significant differences in anthropometric parameters were observed: height SDS and sitting height SDS were reduced in OI types III and IV compared to OI type I.
• Head circumference SDS was notably increased in OI type III compared to OI types I and IV.
• Body mass index SDS showed correlations with skinfold thickness and mid-upper arm circumference, indicating links between weight status and body composition. OI type III patients exhibited the highest energy intake percentage, but also the greatest frequency of low macronutrient and calcium intake, while OI type I had the highest frequency of low fat intake.

Conclusions:

• Distinct anthropometric and nutritional profiles exist among different types of osteogenesis imperfecta.
• The findings underscore the necessity of individualized anthropometric assessments and nutritional status evaluations for patients with OI.
• Tailored interventions based on OI type are essential for optimizing growth and nutritional outcomes.