Osteogenesis imperfecta (OI), or brittle bone disease, is a genetic disorder characterized by bone fragility and fractures. There are 8 types that vary in severity. Type I is the mildest and most common, while Type II is the most severe and often fatal. OI results from mutations in collagen genes and affects the bones, skin, teeth, and lungs. Symptoms include fractures, skeletal deformities, short stature, and blue sclerae. Treatment involves bisphosphonates, surgery, bracing, and physical therapy. Individuals with OI require modifications to activities of daily living like bathing, dressing, eating, and mobility due to their fragile bones and risk of fractures. They also

1. Chevahlyan Dozier

2. Description
Osteogenesis Imperfecta (OI)
or the more common “brittle
bone disease,” is a genetic
disorder characterized be
severe fragility of the bones.

3. Background
There are 8 different types
of OI
Type I is the mildest and most
common form.
Type II is the most severe form
(usually results in death before or
shortly after birth).
Type III is considered to be the
most severe type among children
who survive the neonatal period.
Type IV can range in severity from
relatively few fractures, as in OI Type I,
to a more severe form resembling OI
Type III.
Types V, VI and VII are moderate in
severity and similar in appearance and
symptoms to OI Type IV.
Type VIII can be similar to Types II or III
in appearance and symptoms.

4. History
OI has been identified in a 3000 year old mummy.
The earliest studies of OI began in 1788 with the
Swede Olof Jakob Ekman.
An earlier system by E. Looser in 1906 separated OI
into two categories:
• “osteogenesis imperfecta tarda” (less severe type).
• “osteogenesis imperfecta congenita” (more severe type).
Has since been replaced with the current method
pioneered by David Sillence in 1979.

5. Etiology
Autosomal dominant Autosomal recessive
Autosomal dominant OI (Type’s I-
VI) result from defective connective
tissue, or the inability to produce it,
usually caused by mutations in the
Type I collagen genes.
About 90% of these mutations
occur in the genes COL1A1 on
chromosome 17 and COL1A2 on
chromosome 7.
Autosomal recessive OI (type’s VII and
VIII) does not involve mutations in the
type 1 collagen genes.
• Type VII results from recessive inheritance of a
mutation in the cartilage-associated protein
gene CRTAP gene.
• OI Type VIII is caused by absence or severe
deficiency of prolyl 3-hydroxylase 1 activity due
to mutations in the LEPRE1 gene.
Spontaneous mutation is also known
to occur with all types of OI.

6. Etiology cont…

7. Incidence (statistics)
It is estimated that OI affects 6 to 7 per 100,000 people
worldwide.
The number of Americans affected with OI is thought
to be 25,000 to 50,000.
Type I is the mildest and most common form of the
disorder, accounting for 50% of the total OI population.
Types II- VIII comprise the other 50% of the OI
population.

8. Detection Methods
Collagen studies and DNA
analysis; **however,
negative results on these
tests do not eliminate a
diagnosis of OI**
Dual-emission X-ray
Absorptiometry (DXA)
Single-energy X-ray Absorptiometry
(SXA)
Quantitative Computed Tomography
(QCT)
Quantitative Ultrasound
Sonography
Amniocentesis
Chorionic Villus Sampling

9. Signs and Symptoms
muscular and skeletal
features
Other prominent clinical
signs
bones that break easily
skeletal malformations of the limbs, chest, and
skull
height that ranges from shorter than average to
normal
general or specific muscle weakness
disproportionately short limbs
multiple bone fractures (most before puberty)
kyphosis or scoliosis (abnormal curvature of the
spine)
noticeable laxity in ligaments and unusual joint flexibility
particularly thin skin that is noticeably soft and smooth and
prone to bruises (may resemble the atrophic skin of older people)
healing of wounds and surgical incisions that result in larger than
normal scars
triangular face shape
dentinogenesis imperfect (DI) (noticeably brown, purple or
opalescent and brittle teeth)
sclerae (whites of the eyes) which may have a blue, purple or gray
tint
increased perspiration

10. Blue Sclerae Scoliosis
Signs and Symptoms

11. Signs and Symptoms
skeletal malformations

12. Signs and Symptoms
Dentinogenesis imperfecta

13. Medical Management and
Treatments
Non-surgical interventions
physiotherapy and occupational therapy
positioning aids (to help sit, lie, or stand)
braces to support legs, ankles, knees and
wrists (to prevent deformity and promote
protection)
casts, splints or wraps for broken bones
mobility aids such as canes, walkers, or
wheelchairs
other custom-made equipment or aids for
independence
Education (safe handling, protective
positioning, safe movement, energy
conservation, etc.)
psychological counseling
Possibly total body vibration in the future

14. Medical Management and
Treatments cont…
surgical interventions medications
rodding
dental procedures
spinal fusion
heart surgery
various other corrective surgeries
Bisphosphonate medications to
strengthen bones include:
• Aredia (pamidronate)
• Fosamax (alendronate)
• Reclast (zoledronic acid)
• Forteo (teriparatide injections [for adults only])
RANKL inhibitors (new)
Gene therapy
Increased vitamin D and calcium intake

15. Accompanying Health and
Psychological Problems
Related Health Concerns
Chronic back pain
Knee pain and ankle instability (rolling of the ankle)
Joint pain and instability
low muscle strength
gastric acid reflux and chronic constipation
low bone BMD, osteopenia, & osteoporosis
cardiac problems include:
•mitral valve prolapse (most common)
•mitral valve regurgitation
•aortic valve insufficiency
Basilar impression (can result in respiratory failure and sudden
death)
Respiratory insufficiency
**Respiratory failure is the most frequent cause of death
for people with OI, followed by accidental trauma**
Respiratory insufficiency
Sleep apnea
hearing loss (conductive loss generally occurs around age 20 or
30)
OI can affect the shape of the lens and the strength of the coat
of the eye (sclerae).
• Adults with OI should consult with an ophthalmologist before using contact
lenses
• Also, laser lens surgery is not recommended for people with OI

16. Accompanying Health and
Psychological Problems cont…
Related Psychosocial Issues
great need to develop strategies for
coping and the family’s need for
emotional support (especially during
infancy)
Constant awareness of their child's
fragility makes routine activities a source
of crisis in everyday living
unexplained fractures may raise the
suspicion of child abuse in the minds of
hospital personnel and others as well as
the parents
illnesses and stressors related to the
condition
challenges of developing while learning
how to manage their condition
Individuals with milder forms of OI
experience the added psychological burden
of appearing normal and healthy to the
casual observer despite needing to
accommodate their bone fragility.

17. Course of the Condition
As of today there is no cure.
Life expectancy may be shortened for those with more severe symptoms.
Life expectancy is not affected in people with mild or moderate symptoms.
The frequency of fractures usually decreases after puberty.
Later, frequency of fractures may increase again in women with the onset of
menopause and in men due to age-related changes in their endocrine system.

18. Osteogenesis Imperfecta Savannah
- Backus Children's Hospital video

20. Activities of Daily Living
Bathing, showering,
personal hygiene and
grooming.
Bowel and bladder management
and toilet hygiene.
Hard, slippery tub and shower surfaces
Wearing a sling
Wearing a cast, and splints
Transferring in and out of tub and
shower
lack range of motion in the upper
extremities
Toilet training may be delayed when recovering from a
fracture or surgery; usually from wearing a hip spica cast—a
cast applied around the waist and over one or both legs.
Standard potty chair or toilet may not provide enough
sitting support, or may be too high off the ground.
Insufficient reach and ROM of the upper extremities
Transferring from wheelchair to toilet
Chronic constipation

21. Dressing and personal
device care
Eating and feeding
Avoid stretching, pushing and pulling of limbs while
dressing infants.
Always press on your hand rather than the baby’s body
when closing the fastenings.
avoid awkward positions or getting a hand or foot
caught in clothing or equipment
Fractures can occur when the child becomes twisted or
tangled up in bedclothes, sheets or blankets.
simple, easy-on clothes may be useful (such as pants
with elastic waists)
Clothes often need to be modified for people who are
shorter, or to accommodate a cast.
Adaptive equipment may be useful for donning, doffing
and maintaining most personal devices.
Malnutrition via low caloric intake
Difficulties eating solid food due to decreased muscle
strength and tongue control.
decreased appetite
difficulty eating swallowing due to respiratory problems or
gastric reflux
the presence of DI
potential risk of nausea; diarrhea; and irritation, burning
and scars of the esophagus, throat and stomach with oral
bisphosphonates
Activities of Daily Living cont…

22. Like their peers, teens with OI need
information about intimacy, sexuality, and
reproductive health as well as the genetics
of OI.
Safe sex and sexually transmitted diseases.
Completely capable of having sexual
satisfying lives.
The decrease in the potential for fracture
can be more liberating.
Activities of Daily Living cont…
Functional mobility Sexual activity
general immobility of being confined to a wheelchair
specific immobility due to recurrent fractures (more prevalent
during adolescence)
Some may only need assistance when they are learning a new skill or
recovering from a fracture or surgery, while others will need
assistance—a walker, crutches, a wheelchair, or other aids—most of
the time.
High potential risk of tipping and falling with mobility aids.
Tendency to have flat feet (fallen arches).
decreased mobility of wearing casts may cause and increases bone
brittleness

23. Instrumental Activities of Daily
Living
Child rearing, care of pets,
and care of others
Communication management
Most unaffected parents tend to fear that they cannot
provide adequate care for the child
may need many accommodations—such as adaptive
equipment, home modifications, and/or support of others
Considerable chance that a couple with OI who chooses to
become pregnant will be raising a child with the condition;
A child born into a family that already has an affected
member may enter a more secure environment than a
child born into a family with no history of OI.
Hearing loss, vision problems, and
contractures of the MCP and IP joints
associated with OI can negatively
impact the performance of sending,
receiving, and interpreting
information.
May require the assistance of sound
amplifiers, specialized corrective
lenses, and/or hand therapy

24. Instrumental Activities of Daily
Living cont…
Community mobility and
shopping
Financial and health
management and maintenance
may need assistance from such devices as manual or power
wheelchairs, canes, and walkers to get around in their
community
A short-statured adult with OI typically uses custom-
designed car seat cushions and pedals.
A sudden stop or traffic accident may cause injury.
Some children cannot sit upright and hold their head in
midline independently.
An ambulette service may be used for.
Power wheelchairs with a seat elevator may be beneficial to
short-statured individuals for tasks such as retrieving
items from higher shelves independently.
Can become a very expensive
condition, and the financial
strain can often be a great
burden.
Responsibility of managing and
maintaining a very strict budget
can be especially difficult and
stressful while dealing with such
a demanding condition.

25. Instrumental Activities of Daily Living
cont…
Home establishment and
management
Meal preparation and safety
and emergency maintenance
Home modifications can improve quality of engagement
and level of participation in household responsibilities.
May need to modify room arrangements and storage of
household items to promote safe independent,
engagement in everyday household duties.
Broad structural changes are occasionally necessary
(building ramps, or lowering kitchen and bathroom
surfaces).
A number of accessibility problems may be tackled with
“creative use of assistive devices, rearrangement of
furniture and other equipment, and thoughtful
consideration of how the person with OI can best use
his/her home, classroom, or office (ergonomics).
Kitchens may be less accessible for both
children and adults with OI, making it
harder to prepare and/or serve food.
May benefit from lowered counter tops and
appliances, long-handled faucets, and
adjustable shelving.
Should always be aware of environment,
noting any structural limitations if any.
May also benefit from medical identification
tags and personal alert systems that can be
worn on the body in case of emergencies.

26. Rest and Sleep
Sleep apnea (related respiratory problems).
Fractures can occur when the child becomes twisted or
tangled up in bedclothes, sheets or blankets.
Children with OI are frequently affected by warm
temperatures and are often bothered by excessive sweating.
For comfort, bedclothes should be lightweight, absorbent
and non-constricting.

27. Religious Observance
OI does not directly affect participation in
religious observance except that its physical
limitations may hinder an individual’s ability to
take part in some rituals
The extent that OI can be physically debilitating
as it pertains to religion depends on the severity
of the condition as well as the physical demands
of the religious activity being considered.

28. Education and Work
May be placed on an Individualized Family Service Plan (IFSP) and/or
Individualized Educational Plan (IEP) under "orthopedic impairment” to
address issues such as physical education class, recess activities, ambulation,
toilet transfers, and accessing sinks and water fountains.
Optimum accessibility of both the learning and living facilities should be
considered when choosing a college to attend.
Space demands, sequencing and timing, required body functions, and
required actions and performance skills may negatively impact educational
employment opportunities.

29. Play and Leisure
May have limited physical interactions with toys and
other objects, with the environment, and with people.
Play characteristics may include fear of movement,
decreased active play, and preferences for sedentary
activities.
• Due to limited movement, limited strength, chronic pain and
frequent hospitalizations.
Parents may be reluctant to letting their child engage in
play because of the child’s fragile state.
Rather than set limitations, children should be
encouraged to be independent, active, and playful.
Teens and young adults may have difficulties with
developing age-appropriate recreation and leisure
interest’s as well as planning and participating in leisure
and recreational opportunities.

30. Play and Leisure cont…
Barriers to participation
in leisure may include:
• inadequate accessibility
• cost
• the need to be accompanied
• fear of injury
• Concern over lack of
understanding about OI and
Concern about lack of
welcome for a person with a
disability.

31. Physical disability often obscures concerns over such matters as physical appearance, sexual development
and peer acceptance, concerns that the handicapped child shares with other children.
The frequent use of walking aides, wheelchairs and the challenges related to driving can complicate the
acquisition of friendships and relationships.
Another common issue is that they frequently struggle to be treated in an age-appropriate manner because
they often look and sound much younger that they are.
After childhood, the problems of immobility and of social and financial dependence may continue to
plague individuals severely affected with OI.
A lack of easy access to public transportation and buildings could enhance the persons' physical and social
isolation as well as limit their occupational and educational choices.
Chronic pain, immobility, bone deformities, and hearing loss are other factors that may result in feelings of
isolation and affect interactions with others.
Social Participation

32. Client Factors
Values, beliefs, and
spirituality
Body functions
Having OI or having a
child with OI can
challenge or reinforce
an individual’s beliefs
and spirituality as well
as have a profound
impact on what is
viewed as “valuable.”
OI affect cardiovascular, respiratory, digestive, and
musculoskeletal and movement related functions
Problems with the lungs may result in some level
of immunological dysfunction
Sensory function affected (hearing and vision)
hearing loss associated with OI may impact voice
and speech function
• some individuals have very high pitched voices
The dermis of patients with OI is stiffer and less
elastic than normal.
The skin also bruises more readily and generates
excessive scar tissue after healing.

33. Performance Skills
Even with the mildest forms of OI, individuals endure
numerous fractures throughout their lifetime that could
impact the actions and behaviors they use to move and
physically interact with tasks, objects, contexts, and
environments.
Generally speaking, the abilities demonstrated in sensory–
perceptual, emotional regulation, cognitive, and
communication and social performance skills are not
directly affected by the condition.

34. Client Factors
may cause complications
with reproductive functions
during pregnancy, ranging
from breathlessness and
discomfort to more serious
problems that necessitate
early hospitalization or
premature delivery

35. Performance Patterns
Habits such as protecting the spine by always bending, walking, and sitting in a certain, safe
manner can support performance in areas of occupation while habits such as avoiding
opportunities for engagement in physical activity can hinder performance in areas of occupation.
The development of routines such as following the sequence of steps involved in meal preparation
or to complete toileting, bathing, hygiene, and dressing will also be affected by the presence of OI
Rituals that one engages in are contingent on a number of variables that may influence and be
influenced by their social, cultural, and spiritual lives.
Some individuals may be expected to be very dependent on others their entire lives while others
may be expected to completely independent—taking on roles as employees, volunteers, advocates,
wives/husbands, and mothers/fathers.

36. In the cultural context, throughout his/her life laws such as the IDEA and the ADA will determine the
individual’s ability to access services to improve quality of life.
In the personal context, others may often fail to recognize or acknowledge the individual’s age and
education level during interaction due to the fact that individuals with OI often look and sound much
younger than their actual age.
In the temporal context, children with severe OI may seem significantly more mature than their same age
peers due to relatively higher exposure to “real-life situations” coupled with a lack of care-free activity.
Regarding social environment, individuals may be excluded from activities and interactions with their
peers.
Generally speaking, contexts and environments will affect an individual’s accessibility to occupations and
influence the performance skills and satisfaction with performance; e.g., an individual with OI who finds it
difficult to attend school because of the inaccessibility of that environment (physical) may be more
successful taking distance learning courses online (virtual).
Contexts

37. Conclusion
The limitations of having osteogenesis imperfecta influence the
level and quality of engagement in all areas of occupation. With
more knowledge about this condition and its limitations, occupational
therapy practitioners can better help these individuals link their
specific abilities with purposeful and meaningful patterns of
engagement in occupations, allowing participation in desired roles
and daily life situations at home, school, work, and the community.

38. Thank You 

39. References
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40. References
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41. References
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