Developmental charts for children with osteogenesis imperfecta, type I (body height, body weight and BMI)

Abstract

Osteogenesis imperfecta (OI) is a rare genetic disorder of type I collagen. Type I is the most common, which is called a non-deforming type of OI, as in this condition, there are no major bone deformities. This type is characterised by blue sclera and vertebral fractures, leading to mild scoliosis. The body height of these patients is regarded as normal, or only slightly reduced, but there are no data proving this in the literature. The aim of this study is the preparation of the developmental charts of children with OI type I. The anthropometric data of 117 patients with osteogenesis imperfecta were used in this study (61 boys and 56 girls). All measurements were pooled together into one database (823 measurements in total). To overcome the problem of the limited number of data being available in certain age classes and gender groups, the method called reverse transformation was used. The body height of the youngest children, aged 2 and 3 years, is less than that of their healthy peers. Children between 4 and 7 years old catch up slightly, but at later ages, development slows down, and in adults, the median body height shows an SDS of −2.7. Conclusion: These results show that children with type I OI are smaller from the beginning than their healthy counterparts, their development slows down from 8 years old, and, ultimately, their body height is impaired. What is Known: • The body height of patients with osteogenesis imperfecta type I is regarded as normal, or only slightly reduced, but in the known literature, there is no measurement data supporting this opinion. What is New: • Children with type I osteogenesis imperfecta are smaller from the beginning than their healthy counterparts, their development slows down from 8 years old and, ultimately, their final body height is impaired. • The developmental charts for the body height, body weight and BMI of children with type I osteogenesis imperfecta are shown. Electronic supplementary materialThe online version of this article (doi:10.1007/s00431-016-2839-y) contains supplementary material, which is available to authorized users.

Calcium intake improvement after nutritional intervention in paediatric patients with osteogenesis imperfecta

“…The body height/weight ratios are similar when comparing type I OI patients with healthy subjects. This finding is also reflected in the BMI data, which are similar when comparing OI patients with healthy children and adolescents (21) .…”

Metabolic phenotype in the mouse model of osteogenesis imperfecta

“…It has also been noted that children with OI can have excessive sweating (potentially reflecting high EE) that diminishes after treatment with the anti-resorptive drug pamidronate (Glorieux et al 1998, Åström & Söderhäll 2002. Changes in body weight with age in OI patients demonstrate that in young children with OI it is common to observe low body weight for height, so that many OI children shorter than 110 cm, or younger than 9-10 years are underweight (Aglan et al 2012, Germain-Lee et al 2016, Graff & Syczewska 2017. However, after puberty and especially in adult patients, the trend is reversed with majority of OI patients presenting with normal to high weight for their height, and increasing numbers of overweight and obese patients (Watanabe et al 2007, Chagas et al 2012, Germain-Lee et al 2016.…”

Modelling Morquio A syndrome: an anthropometric study of body characteristics and stature

“…Therefore the second analysis for age groups and gender was performed. Our study has the mix-longitudinal character [26,27] this method can be used when there is an insufficient number of subjects [5,28] A great number of patients had problems with deformities of their lower extremities which, despite applied procedures, might have resulted in measurement errors. Nonetheless, although the modelling of the studied group may have been imperfect, the final model still demonstrated the main characteristics of MPS IVA.…”