Chevahlyan Dozier
Description
Osteogenesis Imperfecta (OI)
or the more common “brittle
bone disease,” is a genetic
disorder characterized be...
Background
There are 8 different types
of OI
Type I is the mildest and most
common form.
Type II is the most severe form
(...
History
OI has been identified in a 3000 year old mummy.
The earliest studies of OI began in 1788 with the
Swede Olof Jako...
Etiology
Autosomal dominant Autosomal recessive
Autosomal dominant OI (Type’s I-
VI) result from defective connective
tiss...
Etiology cont…
Incidence (statistics)
It is estimated that OI affects 6 to 7 per 100,000 people
worldwide.
The number of Americans affect...
Detection Methods
Collagen studies and DNA
analysis; **however,
negative results on these
tests do not eliminate a
diagnos...
Signs and Symptoms
muscular and skeletal
features
Other prominent clinical
signs
bones that break easily
skeletal malforma...
Blue Sclerae Scoliosis
Signs and Symptoms
Signs and Symptoms
skeletal malformations
Signs and Symptoms
Dentinogenesis imperfecta
Medical Management and
Treatments
Non-surgical interventions
physiotherapy and occupational therapy
positioning aids (to h...
Medical Management and
Treatments cont…
surgical interventions medications
rodding
dental procedures
spinal fusion
heart s...
Accompanying Health and
Psychological Problems
Related Health Concerns
Chronic back pain
Knee pain and ankle instability (...
Accompanying Health and
Psychological Problems cont…
Related Psychosocial Issues
great need to develop strategies for
copi...
Course of the Condition
As of today there is no cure.
Life expectancy may be shortened for those with more severe symptoms...
Osteogenesis Imperfecta Savannah
- Backus Children's Hospital video
Dressing and personal
device care
Eating and feeding
Avoid stretching, pushing and pulling of limbs while
dressing infants...
Like their peers, teens with OI need
information about intimacy, sexuality, and
reproductive health as well as the genetic...
Instrumental Activities of Daily
Living
Child rearing, care of pets,
and care of others
Communication management
Most unaf...
Instrumental Activities of Daily
Living cont…
Community mobility and
shopping
Financial and health
management and maintena...
Instrumental Activities of Daily Living
cont…
Home establishment and
management
Meal preparation and safety
and emergency ...
Rest and Sleep
Sleep apnea (related respiratory problems).
Fractures can occur when the child becomes twisted or
tangled u...
Religious Observance
OI does not directly affect participation in
religious observance except that its physical
limitation...
Education and Work
May be placed on an Individualized Family Service Plan (IFSP) and/or
Individualized Educational Plan (I...
Play and Leisure
May have limited physical interactions with toys and
other objects, with the environment, and with people...
Play and Leisure cont…
Barriers to participation
in leisure may include:
• inadequate accessibility
• cost
• the need to b...
Physical disability often obscures concerns over such matters as physical appearance, sexual development
and peer acceptan...
Client Factors
Values, beliefs, and
spirituality
Body functions
Having OI or having a
child with OI can
challenge or reinf...
Performance Skills
Even with the mildest forms of OI, individuals endure
numerous fractures throughout their lifetime that...
Client Factors
may cause complications
with reproductive functions
during pregnancy, ranging
from breathlessness and
disco...
Performance Patterns
Habits such as protecting the spine by always bending, walking, and sitting in a certain, safe
manner...
In the cultural context, throughout his/her life laws such as the IDEA and the ADA will determine the
individual’s ability...
Conclusion
The limitations of having osteogenesis imperfecta influence the
level and quality of engagement in all areas of...
Thank You 
References
Social and Emotional Issues of Living with OI. (2007, July 18). Retrieved from Osteogenesis Imperfecta
Foundati...
References
Burman, T. L.-C., & Kayes, K. J. (2007). Osteogenesis Imperfecta. Clinician Reviews, 7: 47-54.
Gautieri, A., Uz...
References
Sillence, D. M., & Ault, J. M. (2011). Osteogenesis Imperfecta: Caring for Children and Adolescents. Australia....
Osteogenesis Imperfecta (OI) vs. Occupational Therapy (OT)
Osteogenesis Imperfecta (OI) vs. Occupational Therapy (OT)
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Osteogenesis Imperfecta (OI) vs. Occupational Therapy (OT)

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This is a presentation I did last semester in which I discuss how the OTPF applies to osteogenesis imperfecta. I collected data from scholarly as well as non-scholarly resources. I hope this is helpful to you.

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  • OsteogenesisImperfecta (OI) or the more common “brittle bone disease,” is a genetic disorder characterized be severe fragility of the bones (Brusin, 2008). This condition causes the individual to sustain fractures often with little or no apparent trauma.
  • There are 8 different types of OI. Type I is the mildest and most common form. Type II is the most severe form; these cases usually result in death before or shortly after birth. OI 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. OI Types V, VI and VII are moderate in severity and similar in appearance and symptoms to OI Type IV. Cases of OI Type VIII are similar to either Types II or III in appearance and symptoms (Gautieri, Uzel, Vesentini, Redaelli, & Buehler, 2009).
  • OI has affected people throughout our history. An investigation conducted by paleopathologists revealed that the partially reconstructed remains of a mummy dated circa 1000 BC were consistent with the remains of an infant afflicted with OI (Lowenstein, 2009). The earliest studies of OI began in 1788 with the Swede OlofJakob Ekman yet case studies of fragile bones and hearing loss have appeared in the medical literature since the 1600s. An earlier system by E. Looser in 1906 separated OI into two categories: “osteogenesisimperfectatarda” (less severe type) and “osteogenesisimperfectacongenita” (more severe type). As this was an inefficient categorization of the disorder, this has since been replaced with the current method pioneered by David Sillence in 1979 which originally identified four types of OI (Bochum, 2011).
  • Individuals with autosomal dominant OI (type’s I-VI) are born with defective connective tissue, or the inability to produce it, usually caused by a deficiency of Type I collagen (Gautieri et al., 2009). About 90% of these mutations occur in the genes COL1A1 on chromosome 17 and COL1A2 on chromosome 7. Unlike dominantly inherited types, autosomal recessive types of OI do not involve mutations in the type 1 collagen genes; however, these types do affect collagen (Burman & Kayes, 2007). OI 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 (Gautieri et al., 2009).
  • This is a visual aid for the “Etiology” slide.
  • 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 (Zack, DeVile, Clark, & Surtees, 2006). Type I is the mildest and most common form of the disorder, accounting for 50% of the total OI population. Types II-VIII comprises the other 50% of the OI population (Burman & Kayes, 2007).
  • OI is primarily a clinical diagnosis. Collagen studies and DNA analysis can identify the mutation to confirm the clinical diagnosis; however negative results on these tests do not eliminate a diagnosis of OI (Onyon, Debelle, & Rabb, 2009). Other detection methods include: Dual-emission X-ray Absorptiometry, Single-energy X-ray Absorptiometry, Quantitative Computed Tomography, Quantitative Ultrasound, Sonography, Amniocentesis, and Chorionic Villus Sampling (Brusin, 2008).
  • The symptoms and severity of the disease can vary greatly from person to person and not all symptoms are evident in each case (Burman & Kayes, 2007). Typical muscular and skeletal features seen in patients who have OI may include: 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; bones that break easily; multiple bone fractures (most before puberty); and kyphosis or scoliosis (abnormal curvature of the spine) (Brusin, 2008) (Gautieri et al., 2009). Other prominent clinical signs may include: 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; and increased perspiration (Onyon et al., 2009) (Brusin, 2008) (Wilcox & McDonald, 2007).
  • This is a visual aids for the “Signs and Symptoms” slide.
  • This is a visual aids for the “Signs and Symptoms” slide.
  • This is a visual aids for the “Signs and Symptoms” slide.
  • Non-surgical interventions may include: physiotherapy therapy; 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; psychological counseling; mobility aids such as canes, walkers, or wheelchairs; and other custom-made equipment or aids for independence (Gautieri et al., 2009).
  • Medications to strengthen bones include: bisphosphonates such as Aredia (pamidronate), Fosamax (alendronate) or Reclast (zoledronic acid); Forteo (teriparatide injections [for adults only]); gene therapy; and increased vitamin D intake. Managing OI also involves techniques for safe handling, protective positioning and safe movement which are taught to parents and caregivers. Children and youth learn which activities to avoid and how to practice energy conservation. Treatments being studied include a new class of drugs called RANKL inhibitors, and parathyroid hormone therapy (Gautieri et al., 2009). Surgical interventions may be considered to manage the following conditions: fractures or repeat fractures of the same bone, fractures that do not heal properly (e.g., bowing of bone), bone deformity (e.g., scoliosis), basilar impressions and heart problems. These surgical treatments may include: rodding—a procedure to insert a metal bar the length of a long bone to stabilize it and prevent deformity; dental procedures to correct for the effects of DI; spinal fusion to treat scoliosis; and heart surgery; and various other corrective surgeries (Brusin, 2008) (Burman & Kayes, 2007).
  • Muscular, skeletal and joint problems. Chronic lower back pain often results from compression fractures of the spine, scoliosis, or joint deterioration. Adults with OI may also experience pain from old fractures related to either OI or osteoporosis. Knee pain and ankle instability (specifically, rolling of the ankle) are also frequent complaints (Brusin, 2008); these problems can be a result of joint laxity or excessive joint flexibility, subjecting knees and ankle joints to pressure over the years. Unstable joints may increase degenerative changes, which are the sources of pain in many individuals (Burman & Kayes, 2007). Other problems can include fractures that have failed to heal and low muscle strength. Decreased chest cavity length and pelvic asymmetry can lead to gastric acid reflux and chronic constipation (frequent use of various pain medications can also contribute) (Brusin, 2008). Bone mineral density (BMD) can decline as a result of OI, from immobilization associated with casts, limited weight bearing activity, or from age-related changes in bone and the endocrine system (Burman & Kayes, 2007). Osteopenia is milder reduction in bone mass that also may develop secondary to OI (Wilcox et al., 2007). Basilar impression (BI)—an elevation of the floor of the posterior cranial fossa—can be another complication of OI, causing headache, muscle weakness, backache, leg pain, tingling or numbness of hands and feet. Serious CNS complications may also develop from BI due to brainstem compression, which can result in respiratory arrest and sudden death (Brusin, 2008) (Burman & Kayes, 2007). Pulmonary and cardiac function.Breathing problems are the main concern of many OI adults—particularly those with significant scoliosis and kyphosis. Respiratory failure is the most frequent cause of death for people with OI, followed by accidental trauma (Burman & Kayes, 2007). Pulmonary function can be compromised by rib cage malformations, rib fractures, and muscle weakness in the chest wall. Decreased chest volume, chronic bronchitis, and asthma can lead to restrictive pulmonary disorder (a reduction of lung capacity) (Brusin, 2008). Sleep apnea is a related problem for some adults with OI. Some adults with OI seem to have decreased cardiac function, which may be the result of heart valve defects caused by OI-affected connective tissue. The most common is called mitral valve prolapse. Reported heart defects also include mitral valve regurgitation and aortic valve insufficiency (Bochum, 2011). Hearing and vision problems.OI related hearing loss can occur at any age, including childhood, though conductive loss generally occurs around age 20 or 30. Its severity ranges from mild or moderate to severe and even profound. Laxity of affected ligaments and tendons, along with other trauma, can increase with time, and hearing loss may worsen with age (Brusin, 2008). OI can also affect the shape of the lens and the strength of the coat of the eye, called the sclera—giving the “white” of the eye an unusual hue (Wilcox et al., 2007). Adults with OI should consult with an ophthalmologist before using contact lenses. Also, laser lens surgery is not recommended for people with OI. For some, the intensity of this condition decreases with age (Brusin, 2008).
  • Significant care issues that arise with OI include the need to develop strategies for coping and the family’s need for emotional support, especially during infancy. The initial shock may be followed by anger and frustration, particularly if there is no knowledgeable person available to counsel them about the disorder (“Social and Emotional Issues”, 2007). Parents of children with milder forms of OI may find it difficult to persuade others that their child has real limitations for which specific allowances have to be made. Constant awareness of their child's fragility makes routine activities a source of crisis in everyday living (Sillence & Ault, 2011). Moreover, children less severely affected often suffer repeated fractures before a diagnosis is confirmed. The unexplained fractures may raise the suspicion of child abuse in the minds of hospital personnel and others as well as the parents. While these suspicions linger, the parents must contend with feelings of guilt and unfocused anxiety (“Social and Emotional”, 2007). It can be a long, complicated, and perplexing process distinguishing accidental and non-accidental injury in children where a bone fragility disorder has been suspected (Onyon et al., 2009). Children with more severe types of OI are exposed not only to daily stressors, but also the many illnesses and stressors related to the condition juxtaposed with the 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 (“Social and Emotional”, 2007).
  • OI is present throughout an individual’s lifetime. The prognosis for a person with OI varies greatly depending on the number and magnitude of symptoms. Life expectancy may be shortened for those with more severe symptoms—the most severe forms result in death at birth or during infancy—and is not affected in people with mild or moderate symptoms (Burman & Kayes, 2007). The frequency of fractures usually decreases after puberty, when growth stops. Later, it may increase again in women with the onset of menopause and in men due to age-related changes in their endocrine system (Brusin, 2008). Despite the challenges of managing OI, most adults and children who have OI can attend school, develop friendships and other relationships, have careers, raise families, participate in sports and other recreational activities, be active members of their communities, etc. (Wekre et al., 2010) (Burman & Kayes, 2007).
  • Here’s a video about a girl named Hannah Tyre. Hanna was born with OsteogenesisImperfecta, including 32 broken bones at birth. Her story is shared at BackusChildren's Hospital. Courtesy of Children's Miracle Network and WTOC.
  • Now I discuss ways the OTPF may apply to individuals with osteogenesisimperfecta.
  • Bathing, showering, personal hygiene and grooming.Placing a folded towel, gel pad, or foam pad on the bottom of the tub provides a comfortable, slip-resistant surface for the infant to be bathed (OI Foundation, Inc). It is possible to bathe a baby who is wearing a sling for a fractured arm by leaving the sling on during the bath, and replacing it with a dry sling after taking the baby out of the tub. Babies who are wearing a cast must have sponge-baths (Sillence & Ault, 2011). Other considerations may include adaptations such as sliding transfer benches into the tub, shower seats, grab bars, and hand-held shower heads. Long-handled scrub brushes or sponges, washcloths, and “soap on a rope” can be hung on easy-to-reach hooks in the shower or tub enclosure (OI Foundation, Inc). Other long-handled objects (such as brushed, combs, and toothbrushes) can compensate for a lack range of motion in the upper extremities due to immobilizers, casts, or injuries, allowing for participation in independent self-grooming.Bowel and bladder management and toilet hygiene.A child who is learning to use the toilet may go back to diapers when recovering from a fracture or surgery, usually because the type of cast most frequently used for the lower extremities is a hip spica cast—a cast applied around the waist and over one or both legs (Sillence & Ault, 2011). A standard potty chair or toilet may also pose a problem for an individual with OI (e.g., not enough sitting support, or too high off the ground). If a person’s arms are particularly short, a toilet-paper reacher, (“toilet-tongs”) may be necessary to extend the reach of the hand. Equipment such as a sliding transfer bench and/or grab bars may be indicated for transferring from wheelchair to toilet (OI Foundation, Inc). Pelvic asymmetry, observed in individuals with more severe OI, is connected with frequent constipation which, in some cases, can result in serious complications (Brusin, 2008).
  • Dressing and personal device care.Infants with OI should be dressed in clothing that minimizes stretching, pushing, and pulling of limbs (Sillence & Ault, 2011). Consider clothes with buttons or snaps down the front and at the crotch and play suits with snaps along both legs and the torso ('tear-away suits') in order to lessen handling. Ideally, clothing should be able to lie flat with either Velcro or press studs at the shoulders and front or back. Always press on your hand rather than the baby’s body when closing the fastenings. In addition, when caring for someone with OI, be aware of where the person’s arms and legs are at all times to avoid awkward positions or getting a hand or foot caught in clothing or equipment as this may result in fractures (OI Foundation, Inc). Fractures can occur when the child becomes twisted or tangled up in bedclothes, sheets or blankets as well. Children with OI are frequently affected by warm temperatures and are often bothered by excessive sweating. For comfort, clothing should be lightweight, absorbent and non-constricting (Sillence & Ault, 2011). For older children and adults with OI, 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 (OI Foundation, Inc). An adjustable-tension shower curtain rod can be used at a lower position to hang clothes in the closet. Adaptive equipment, reachers, dressing stick's, sock aids, long-handled shoe horns, etc. may be useful for donning, doffing and maintaining items such as clothes, shoes, orthotics, glasses, hearing aids, and most other personal devices. Eating and feeding.Malnutrition caused by low caloric intake, difficulties eating solid food, and a decreased appetite has been identified in children and adults with OI; this may be due to chronic pain or a recent surgery. Some infants have difficulty eating; swallowing problems are common with some types of OI due to respiratory problems or gastric reflux (OI Foundation, Inc). When breast- or bottle-feeding, a baby should be supported with a pillow so that even support is given to the entire body. The time for introducing different foods and juices is the same as that of unaffected children (Sillence & Ault, 2011). Decreased muscle strength and tongue control can cause difficulty for a child to transition from a diet based on milk or formula and pureed foods into eating solid foods. Some difficulties may be encountered in chewing if DI is present. Also, with oral bisphosphonates there is a potential risk of side effects such as nausea; diarrhea; and irritation, burning and scars to the esophagus, throat and stomach (Burman & Kayes, 2007).
  • Functional mobility.Severely affected older children battle with the general immobility of being confined to a wheelchair, the social problems associated with short stature, pain, and specific immobility due to recurrent fractures, which may be more prevalent at the time of the growth spurt in adolescence (“Social and Emotional Issues", 2007). 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. Other mobility aids—scooter boards, riding toys, tricycles, etc—are particularly helpful for young children who are not candidates for walkers or wheelchairs, but who will benefit from independent mobility (Sillence & Ault, 2011). Four wheels are best to prevent tipping and falling. Seat belts and safety harnesses are necessary as well. Seats with back rests provide better support and facilitate good posture. For children with OI, gait and footwear advice should be sought out by parents and caregivers (OI Foundation, Inc). Because of the laxity of ligaments in the feet there is a tendency to have flat feet (fallen arches). Early treatment may prevent deformity and improve comfort and endurance. Another concern is that the decreased mobility of wearing casts may cause and increases bone brittleness (Sillence & Ault, 2011). Sexual activity.Like their peers, teens with OI need information about intimacy, sexuality, and reproductive health; they also need information about the genetics of OI. While dating may be delayed for some people, teens still need to know about safe sex and sexually transmitted diseases and how to take responsibility for themselves and their partners (“Social and Emotional Issues”, 2007). When considering sexual activity and OI, it is worth noting that “The frequency of fractures usually decreases after puberty, when growth stops” (See “Course of the Condition”); the decrease in the potential for fracture can be more liberating.
  • Child rearing, care of pets, and care of others.Some parents or caregivers with OI may be able to perform well in these areas with little or no accommodations while others may need many accommodations—such as adaptive equipment or the support of others (Sillence & Ault, 2011). There is considerable chance that a couple with OI who chooses to become pregnant will be raising a child with the condition. In this case, having OI may positively affect performance child rearing: 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 due to the fact that most unaffected parents tend to fear that they cannot provide adequate care for the child because of their relative lack of knowledge about the condition (“Social and Emotional”, 2007).Communication management.Though commonly occurring in early adulthood, hearing loss can begin at any time and ranges in severity from mild to profound. OI may also indirectly affect vision: depending on the level of eye involvement, OI may affect eligibility for corrective sight interventions such as contact lenses and laser surgery (see “Hearing and vision problems”). Lastly, contractures due to the prolonged immobility of wearing casts and splints during recovery from fractures may be present. Any one or combination of these client factors can negatively impact performance skills in the area of communication management—sending, receiving, and interpreting information using a variety of systems and equipment (American Occupational Therapy Association, 2008)—and may require the assistance of sound amplifiers, specialized corrective lenses, and/or hand therapy to accommodate for lack of function (e.g., hearing loss, low vision, loss of available range of motion in joints of the hand and wrists).
  • Community mobility and shopping. Some people with OI may need assistance from such devices as manual or power wheelchairs, canes, and walkers to get around in their community while others affected may need no additional assistance at all. A short-statured adult with OI typically uses custom-designed car seat cushions and pedals for driving. E wide padding on seatbelt straps can help prevent injury in a sudden stop or traffic accident. Use towel rolls, stuffed animals, or bolsters to promote good sitting posture and keep head in midline for a child who cannot sit upright independently (OI Foundation, Inc). Affixing a noticeable tag or sticker to the seat indicating the OI diagnosis, in case of a traffic accident is another safety measure that should be considered (Sillence & Ault, 2011). An individual who OI sustains an injury or injuries that leave him/her bedridden for a while may benefit from using a food delivery service (such as “meals-on-Wheels”) during recovery. An ambulette service may be used to help transfer items for someone capable of getting around in a grocery store but cannot travel independently within the community. Using power wheelchairs with a seat elevator may be beneficial to short-statured individuals for tasks such as retrieving items from higher shelves independently. Financial and health management and maintenance.OI does not affect performance as it pertains to the occupation of financial management except that it can become a very expensive condition, and the financial strain can often be a great burden. The responsibility of managing and maintaining a very strict budget can prove arduous for anyone, especially individuals trying to cope with the hassles of such a debilitating condition. Health management and maintenance demands with OI can be great—e.g., maintaining a constant awareness of one’s body orientation in space and one’s surroundings, adhering to various schedules for therapies and other medical treatments, and managing chronic pain. Individuals affected may have to depend heavily on their families, friends, and neighbors for support in this area.
  • Home establishment and management.The physical limitations of OI can have a negative impact on one’s ability to obtain and maintain personal and household possessions and environment (e.g., home, yard, garden, appliances, and vehicles). Furnishing the home with modifications for maximum accessibility for individuals with OI can improve their quality of engagement and participation not only in their own care, but also in household responsibilities. Families may need to modify room arrangements and storage of household items to promote safe independent, engagement in everyday household duties. While broad structural changes are occasionally necessary (such as 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]” (OI Foundation, Inc).Meal preparation and safety and emergency maintenance. Kitchens may be less accessible for both children and adults with OI, making it harder to prepare and/or serve food. While a custom-designed kitchen—with lowered counter tops and appliances, long-handled faucets, and adjustable shelving—is ideal, any kitchen can be made more accessible to a person with OI (OI Foundation, Inc). Safety can be an issue as well. As with anywhere else, individuals with OI should always be aware of their environment making note of any structural limitations if any. Individuals may also benefit from medical identification tags and personal alert systems that can be worn on the body in case of emergencies. The possibilities for facilitating more independence are vast, considering both traditional adaptive equipment as well as “homemade” solutions to everyday challenges (OI Foundation, Inc). When choosing equipment, energy conservation, joint protection, mobility, safety and accessibility should all be taken into account.
  • 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 (kneeling, bowing, etc.). 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.
  • An Individualized Family Service Plan (IFSP) may be utilized for a child with OI if he/she is considered to be “at risk.” Since the child has OI and may need a wheelchair, once school age is reached he/she may be considered to have an "orthopedic impairment” and placed on an Individualized Educational Plan (IEP) to address issues such as physical education class, recess activities, ambulation, toilet transfers, and accessing sinks and water fountains. In most cases, the only deterrent facing the student with OI in choosing a college is optimum accessibility of both the learning and living facilities (OI Foundation, Inc). Finding a job may or may not be troublesome. A logistic regression analysis by Weker et al. (2010) showed that OI type, ADL scores, hearing deficit and, the presence of deformities in arms, legs, or spine (scoliosis), had no significant effect on employment rate or employment status, especially not in the group with high educational level (an adjustment of gender, age, and educational level [university level versus other] was made). It is helpful to examine literature that explores possibilities for individuals with OI, however, each case must be considered individually. Space demands, sequencing and timing, required body functions, and required actions and performance skills may negatively impact educational employment opportunities.
  • OI can limit physical interactions with toys and other objects, with the environment, and with people. The child may also show decreased exploration due to limited movement, limited strength, and chronic pain. These factors, coupled with frequent hospitalizations, can lead to play characteristics that include fear of movement, decreased active play, and preferences for sedentary activities. Another issue is that, out of necessity, children with OI spend a lot of time with adults. Furthermore, parents may feel some reluctance when it comes 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 (OI Foundation, Inc). It is beneficial to consciously pursue opportunities for play dates and other fun experiences with other children. Also, siblings should be informed about the rules for playing with their fragile brother or sister. 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 (“Social and Emotional Issues”, 2007).
  • 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, and many other factors (“Social and Emotional Issues”, 2007).
  • 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 (“Social and Emotional Issues”). 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.
  • Values, beliefs, and spirituality.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.” Firdaus Kanga (b. 1960, Bombay) is a writer and actor who was born with OI and grew up in India, a place where religion still dictates most of the culture. Kanga publicly rejects his families Hindu religion and its notions of Karma—which lays blame for suffering in “this life” at what humans may have done in their “past lives”—and has presented works “that explore how religion can exclude and even patronize individuals with disabilities.” (“Firdaus Kanga”, 2011) His story is just one example of how OI can impact an individual’s values, beliefs, and spirituality; though these client factors both affect and are affected by the many variables surrounding the condition.Body functions.Mental, genitourinary, and hematological functions are not directly affected by OI. The ways in which OI affect cardiovascular, respiratory, digestive, and musculoskeletal and movement related functions were discussed in earlier sections of this paper (see “Cardiac and pulmonary function”, “Bowel and bladder management and toilet hygiene”, and “Muscular, skeletal and joint problems”). Problems with the lungs may result in some level of immunological dysfunction; i.e., decreased lung function can make it more difficult to fight off upper respiratory infection (such as pneumonia). The sections titled “Hearing and vision problems” addresses the sensory function issues that may be imposed by OI. Also, the hearing loss associated with OI may impact voice and speech function. Generally, ndividuals on the more severe end of the spectrum tend to have very high pitched voices (Burman & Kayes, 2007). Aside from the hereditary genetic mutation, factors such as short stature, curved spine, bone deformity, and joint laxity may cause complications with reproductive functions during pregnancy, ranging from breathlessness and discomfort to more serious problems that necessitate early hospitalization or premature delivery; however, OI does not prevent having children (Brusin, 2008). The deficiency of collagen not only affects the bones, joints, and sclerae, but also the skin. 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 (Onyon et al., 2009).
  • The influence of OI on Motor and Praxis skills can be significant and is a repeating theme of this paper. 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 (OI Foundation, Inc). This might greatly impacts the planning, sequencing, and executing of new and novel movements. Moreover, fear of sustaining fractures coupled with frequent hospitalizations and the general immobility of casts and splints may deprive a child of key opportunities to engage in activities which help develop motor and praxis skills (Brusin, 2008). Conversely, some individual with OI have to learn adaptive motor skills to accommodate for the physical limitations of the condition; these individuals become quite efficient at performing these skills, allowing for complete independence. Generally speaking, the abilities demonstrated in sensory–perceptual, emotional regulation, cognitive, and communication and social performance skills are not directly affected by the condition.
  • OI may be a key factor in the development of habits, routines, rituals, and roles. 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.
  • 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).
  • Osteogenesis Imperfecta (OI) vs. Occupational Therapy (OT)

    1. 1. Chevahlyan Dozier
    2. 2. Description Osteogenesis Imperfecta (OI) or the more common “brittle bone disease,” is a genetic disorder characterized be severe fragility of the bones.
    3. 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. 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. 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. 6. Etiology cont…
    7. 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. 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. 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. 10. Blue Sclerae Scoliosis Signs and Symptoms
    11. 11. Signs and Symptoms skeletal malformations
    12. 12. Signs and Symptoms Dentinogenesis imperfecta
    13. 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. 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. 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. 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. 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. 18. Osteogenesis Imperfecta Savannah - Backus Children's Hospital video
    19. 19. 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
    20. 20. 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…
    21. 21. 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
    22. 22. 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
    23. 23. 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.
    24. 24. 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.
    25. 25. 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.
    26. 26. 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.
    27. 27. 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.
    28. 28. 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.
    29. 29. 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.
    30. 30. 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
    31. 31. 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.
    32. 32. 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.
    33. 33. 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
    34. 34. 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.
    35. 35. 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
    36. 36. 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.
    37. 37. Thank You 
    38. 38. References Social and Emotional Issues of Living with OI. (2007, July 18). Retrieved from Osteogenesis Imperfecta Foundation: http://www.oif.org/site/PageServer?pagename=PsychNeeds Firdaus Kanga. (2011, October 3). Retrieved from Wikipedia, the free encyclopedia: http://en.wikipedia.org/wiki/Firdaus_Kanga American Occupational Therapy Association. (2008). Occupational Therapy Practice Framework: Domain & Process 2nd Edition. American Journal of Occupational Therapy, 62, 625-683. Bochum, V. P. (2011). Ekman-Lobstein syndrome. Retrieved from Whonamedit? A dictionary of medical eponyms: http://www.whonamedit.com/synd.cfm/1743.html Brusin, J. H. (2008). Osteogenesis Imperfecta. Radiologic Technology, 13: 535-348.
    39. 39. References Burman, T. L.-C., & Kayes, K. J. (2007). Osteogenesis Imperfecta. Clinician Reviews, 7: 47-54. Gautieri, A., Uzel, S., Vesentini, S., Redaelli, A., & Buehler, M. J. (2009). Molecular and Mesoscale Mechanisms of Osteogenesis Imperfecta Disease in Collagen Fibrils. Biophysical Journal, 857–865. doi:10.1016/j.bpj.2009.04.059 Lowenstein, E. J. (2009). Osteogenesis Imperfecta in a 3,000-Year-Old Mummy. Childs Nervous System, 2: 515–516. doi:10.1007/s00381-009-0817-7 OI Foundation, Inc. (n.d.). Therapeutic Strategies for Osteogenesis Imperfecta: A Guide for Physical Therapists and Occupational Therapists. Retrieved from Osteogenesis Imperfecta Foundation: http://www.oif.org/site/DocServer?docID=741 Onyon, C., Debelle, G., & Rabb, L. (2009). Non-accidental Injury and Bone Fragility Disorders: The Need for a Multidisciplinary Perspective. Child Abuse Review, 18: 346–353. doi:10.1002/car.1086
    40. 40. References Sillence, D. M., & Ault, J. M. (2011). Osteogenesis Imperfecta: Caring for Children and Adolescents. Australia. Retrieved from http://www.oiaustralia.org.au/images/files/OI_Book_2nd_ed_Complete.pdf Wekre, L. L., Froslie, K. F., Haugen, L., & Falch, J. A. (2010). A population-based study of demographical variables and ability to perform activities of daily living in adults with osteogenesis imperfecta. Disability and Rehabilitation, 32(7): 579–587. doi:10.3109/09638280903204690 Wilcox, R. A., & McDonald, F. S. (2007). Gray-blue sclerae and osteopenia secondary to osteogenesis imperfecta. Mayo Clinic Proceedings, 1: 265. Zack, P., DeVile, C., Clark, C., & Surtees, R. (2006). Understanding the information needs of general practitioners managing a rare genetic disorder (osteogenesis imperfecta). Community Genetics, 9:260– 267. doi:10.1159/000094475

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