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In Depth Tutorials and Information
CHAPTER
52
Rehabilitation for Adults with
Ost
eogenesis Imperfe
cta
Melissa K. Trovato, Scott C. Schultz and Christopher Joseph
Johns Hopkins School of Medicine and Kennedy Krieger Institute, Baltimore, MD, USA
Osteogenesis imperfecta (OI) is a group of connec-
tive tissue disorders which leads to increase in fragility
of the bones and involves multiple other organ systems
including ligaments, muscles and joints.
1
Children with
this condition receive a variety of rehabilitation services.
Rehabilitation is focused on increasing function to their
maximum ability. Once in adulthood rehabilitation ser-
vices are more focused around preserving level of func-
tion, recovery of function/mobility after fracture or injury
and reducing pain. This loss in function can come from a
variety of activities. It can be the young adult who has a
mild type OI and was injured in a sports-related activity,
wheelchair dependent individuals may be pushing their
chairs further distances exposing them to the possibility
of shoulder injury or the older individual may be feeling
the effects of normal aging. After puberty the number of
fractures decreases but there may be more injuries to the
connective tissues themselves. As children transition into
young adulthood their level of activity may be increasing,
such as going to college or getting a job which takes them
out of their sheltered local school environment.
1
The literature regarding adults with OI is meager at
best. Information for this chapter was culled from the
literature regarding both children and adults with OI,
as well as experience. The OI Registry was also used to
gain further understanding of what percentage of adult
responders reported issues with mobility, pain and
deformity. This data will be presented during the appro-
priate section as a framework to address the scope of the
issues. There is currently data from 1882 individuals in
the OI Registry, of these 1289 are older than age 21. Two-
thirds of the respondents are female.
Research regarding activities and participation reveals
that adults with type I OI are typically independent in
their activities of daily living, sports activities and are
employed. Individuals with type III typically require
more assistance with activities of daily living and it is
hypothesized that short stature and upper limb defor-
mities contribute to their difficulties. Individuals with
type IV and V require minimal assistance with some
activities.
2
Individuals with type III have severe upper extremity
deformities. These deformities continue to impact their
independence and function well into adulthood. In a
study using the PEDI in children with OI it was shown
that mild and unilateral deformities impaired mobility,
but severe deformities limit both mobility and self-care.
3
These deformities persist into adulthood and continue
to impact mobility and activities of daily living. Bracing
and adaptive devices should be considered to maxi-
mize independence at all ages. Hearing deficits have not
been found to impact ADLs.
4
In this study no effect on
employment status was found based on OI type, hearing
impairment, presence of limb deformities or scoliosis. In
this population-based study, approximately 50% of this
group had a hearing deficit, and 25% used hearing aids.
Data from the OI registry reveals 62% of respondents
to be independent in mobility. Eight percent ambulate
with crutches or a walker, 17% use a manual or power
wheelchair and 13% did not respond. The bulk of indi-
viduals that use a wheelchair are independent in trans-
fers and 40% of all respondents report participating in
regular exercise of PT program.
The goal of rehabilitation of the adult is maintenance
of function. Providers must encourage regular exercise
for their patients to maintain their current level of activi-
ties of daily living and mobility skills. Upon review of
the OI Registry it is noted that 25% of adults have bony
