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In Depth Tutorials and Information
CHAPTER
51
Functional Outcome Measures in
Children with Osteogenesis Imperfecta
*
A Review of the Literature using the ICF and Perspectives
for Treatment
Raoul H.H. Engelbert
1,2
, Marco van Brussel
3
and Eugene
Rameckers
4,5,6
1
University of Applied Sciences Amsterdam (Hogeschool van Amsterdam), The Netherlands,
2
University Hospital Amsterdam (AMC), Amsterdam, The Netherlands,
3
Wilhelmina Children's
Hospital, University Medical Center Utrecht, Utrecht, The Netherlands,
4
Maastricht University
Medical Center, Maastricht, The Netherlands,
5
Adelante Rehabilitation Center, Valkenburg,
The Netherlands,
6
University of Applied Sciences, AVANS
+
, Breda, The Netherlands
INTRODUCTION
(non)pharmacological treatment as well as surgical
treatment) can be found in Chapter 46.
The International Classification for Child and Youth
(ICF-CY) is the commonly accepted model for clas-
sification in functional outcome. The ICF-CY is a
model which provides a framework to describe limita-
tions of children's functioning and identifies influen-
tial environmental factors. The model consists of the
domains of
body function and structure
on one side and
of
activities
and
participation
on the other side, whereas
environmental and personal factors provide infor-
mation regarding the context. The ICF-CY has a logi-
cal coherent content, aids in providing classification
and effective decision-making, and is easily adopted
in rehabilitation services (
Figure 51.1
).
8
Although the
ICF-CY is frequently used in health care providing ser-
vices and preventive care for children, it has not been
described in detail for children with OI.
An up-to-date overview regarding functional out-
come measures, which are factors within clinical diag-
nostics and treatment of children and adolescents with
OI, and the influence of medication on their functional
outcome will be given in this chapter, in which the
Osteogenesis imperfecta (OI) is a heterogeneous
group of connective tissue disorders characterized
by osteopenia and propensity to fracture following
minimal trauma. In the majority of cases, OI results
from mutations in the COL1A1 or COL1A2 genes that
encode alpha chains of type I collagen.
1
The incidence
of OI is approximately 1:10,000 without gender or
racial predilection.
2
OI has been reclassified into five
major groups, each of which is genetically heteroge-
neous.
3
Amino-bisphosphonates have marked affinity
to bone tissue and are known to decrease the number
and activity of osteoclasts and increase net bone forma-
tion.
4
Astrom and Soderhall described in the early 1990s
the use of this drug in OI.
5
Since then, many articles
have described the use of bisphosphonate in the treat-
ment of OI regarding the effects of increasing bone
mass and decreasing fracture rate including the effects
on growth and muscle strength, as well as mobility.
5-7
Extensive information regarding OI (classification,
*
The authors declare no conflict of interest.
