what-when-how
In Depth Tutorials and Information
ability of children with OI has been measured with the
modified Bleck scale scores (classification of the level of
ambulation as non-walker, therapy or exercise walker,
household walker, neighborhood walker and commu-
nity walker)
24,35
or using gait analysis in a gait labora-
tory.
26,41
The PEDI has also been used to describe the
participation of children with OI.
17,35,38
When focus-
ing on the health profile of the child with OI, the Child
Health Questionnaire
19
and the health utility index
mark (HUI) can be used.
28
Seikaly et al. measured markers of quality of life in
15 children with OI type III and IV using total mobility
(PEDI), self-care (WEEFIM), well-being, pain and use of
analgesic score. The well-being scores were related to
pain-free moments per months and number of analge-
sia days.
30
ICF. Recently, in pediatric physical therapy, pediatric
rehabilitation
43
and pediatric exercise physiology, a par-
adigm shift has been observed:
1.
A shift of focus is observed in the domains of the ICF from
optimizing body functions towards optimizing activities
and participation.
In order to provide adequate advice for children
with OI we should distinguish between the child's
activity and participation levels and their functional
capabilities. One should be cautious about assuming
direct relationships between body function and
activities/participation. The primary goal of
diagnostics and intervention is focused on activities
in a functional context, whereas the question
whether problems in anatomical structures and body
functions are prerequisites for activities should be
studied. In OI, several studies have demonstrated
that no direct associations are present between the
body function and activity domain.
9,10
Children
with OI are often restricted in their participation
in physical activities as a consequence of real or
perceived limitations imposed by their condition.
The current shift of focus toward the optimization
of activities and participation is clearly visible as
exercise is increasingly utilized as an intervention
in the clinical management of chronic diseases. For
example, more and more studies are performed
within the fitness domain and recent training
studies indicate children could benefit from such
interventions.
2.
The concept of “normality” is criticized and a shift
towards disease specificity is observed.
In OI, disease-specific patterns regarding body
functions, activities and participation are observed.
For example, in the body function domain,
ROM of the shoulder joint (flexion) in OI type
III is between 90 and 120°, whereas in healthy
children this should be 180°. ROM does not actually
change over time in the most severe types of OI
due to skeletal properties.
9,10
Therefore, improving
ROM by exercise is not indicated and is even a
contraindication. For example, in the activities
domain, specific developmental motor patterns
have been described with and without the use of
medication. In children with OI type III who were
not treated by medication, static motor milestones
developed earlier than dynamic motor milestones,
possibly due to the child preventing fractures in
the upper arm when, e.g., rolling over. So, time and
sequence of achieving motor milestones should be
compared to children with OI and not with healthy
children. Therefore, enhancing motor development
is possible with respect to disease-related normative
values.
33,34
DISCUSSION
Based on existing literature and our own clinical
experience, we concur with the statements made in the
review of Castillo et al. regarding the effects of bisphos-
phonate treatment in children with OI.
42
Despite a large
body of published literature, there have been only few
studies with a sufficiently high level of internal valid-
ity known which are truly informative. Bisphosphonate
therapy is often used in patients with moderate to
severe OI in an effort to increase bone mineral density,
decrease fracture rates, enhance growth
37
and alleviate
pain. The short-term effects of these treatment modali-
ties have been extensively studied; however, most
of these studies were limited to the analysis of bodily
functions in pediatric OI populations.
36
Furthermore,
extremely limited evaluation of broader treatment
impacts, such as deformity, need for orthopedic sur-
gery, pain, physical functioning or quality of life, have
been conducted. This current lack of evidence should be
extended, improved and statements should be strength-
ened by (randomized) controlled trials, as most of the
current studies lack power for general statements
regarding their outcomes. Next to the above, additional
research is needed regarding adequate (non) pharma-
cological treatment of infants with OI, such as evalua-
tion of medication choices, optimal dosing, duration of
treatment, post-treatment impacts and long-term side
effects.
42
Montpetit et al. recently stated that treatment
of OI should consist of rehabilitation (including physio-
therapy and occupational therapy) in order to promote
gross motor development and maximize functional
independence, in combination with orthopedic surgery
to stabilize bones and correct deformities.
The majority of earlier articles were written within
the ICF concept
body functions
, whereas the least infor-
mation is provided in the
participation
domain of the
