Osteogenesis+Imperfecta

Please use this wiki to compile resources, links, and files related to your final project case study. You may use and organize this wiki however you wish, but please note that the following items are required:
 * Information about the child's diagnosis
 * Evidence-summary table and links to articles, websites, abstracts, etc (from the Nov 16 EBP lab) on a clinical question of your choice (related to the child's diagnosis, condition, limitations, and/or restrictions)
 * Educational material of your choice (such as a brochure, home exercise program, inservice presentation) related to the child's diagnosis, condition, restrictions/limitations

Remember, you MAY NOT include any identifying information on this page. Do not include the child's name or birth date, any personal information about the child, photographs or video of the child, or the WHO-ICF model completed about the child.

Sheila Gahagan and Mary Ellen Rimsza. Child Abuse or Osteogenesis Imperfecta: How Can We Tell? //Pediatrics// 1991;88;987. http://pediatrics.aappublications.org/content/88/5/987
 * Child Abuse vs Osteogenesis Imperfecta (OI) **
 * OI often presents similarly to child abuse and can be easily confused.
 * Both present with stories that do not match the severity of a child's frequency and severity of fractures.
 * As PT's we need to document carefully and ask questions.
 * Though OI is highly correlated with heredity, there is still the chance of a gene mutation without a familial history.
 * The genetic testing is expensive but very reliable and worth the peace of mind, especially when determining the difference between fractures caused by child abuse or OI.

Osteogenesis Imperfecta ** Approximately 50,000 people in the U.S. have OI ** Kenneth Falvo et al. Osteogenesis Imperfecta: Clinical Evaluation and Management //T// //he Journal of Bone and Joint Surgery// 1974;56-A;4;783-93. www.oif.org Medical Guide Fact Sheet [pdf]
 * 7 Types of Osteogenesis Imperfecta **

Clinical features vary widely. Some features are age dependent. Children with milder OI, in particular, may have few obvious clinical features.

• ** Most common ** and mildest type of OI. • Bones predisposed to fracture. Most fractures occur before puberty. • Normal or near-normal stature. Stature may be average or slightly shorter than average as compared with unaffected family members, but within the normal range for age. • Loose joints and muscle weakness. • ** Sclera (whites of the eyes) often have a blue, purple, or gray tint **. • Triangular face. • Tendency toward spinal curvature. • Bone deformity absent or minimal. • Brittle teeth possible. • Hearing loss possible, often beginning in teens. • Collagen structure is normal, but the amount is reduced.
 * Type I (Mild) **
 * • Dominantly inherited; spontaneous mutations are common. (It can be passed from parent to child, or occur in a previously unaffected ** family due to a new mutation.)

**Type II (Perinatal Lethal)** • Most severe form. • Frequently lethal at or shortly after birth, often due to respiratory problems. • Numerous fractures and severe bone deformity **evident at birth**. • Small stature with underdeveloped lungs, and low birth weight. • Collagen is improperly formed. • Results from new dominant mutations to type 1 collagen genes, parental mosaicism or recessive inherited mutation to CRTAP gene.

• Progressive bone deformity, often severe. • Bones fracture easily. Fractures are often present at birth, and x-rays may reveal healed fractures that occurred before birth. • Short stature. • ** Sclera have a blue, purple, or gray tint. ** • Loose joints and poor muscle development in arms and legs. • Barrel-shaped rib cage. • Triangular face. • Spinal curvature and compression fracture of vertebrae. • Respiratory problems possible. • Brittle teeth are common but not universal. • Hearing loss possible. • Reduced amounts of poor quality type I collagen. • Results from dominant mutations in type I collagen genes, (often the result of spontaneous mutation, parental mosaicism) or recessive inheritance of a mutation to CRTAP gene.
 * Type III (Progressive Deforming) **

• Between Type I and Type III in severity. • Bones fracture easily, most before puberty. • Shorter than average stature for age. • Sclera are white or near-white (i.e., normal in color). • Mild to moderate bone deformity. • Spinal curvature and compression fracture of vertebrae. • Barrel-shaped rib cage. • Triangular face. • Brittle teeth possible. • Hearing loss possible. • Reduced amounts of poor quality type I collagen. • Results from dominant mutations in type I collagen genes, (often the result of spontaneous mutation, parental mosaicism) or recessive inheritance of a mutation to CRTAP gene.
 * Type IV (Moderate Severe) **

• Similar to Type IV in appearance and symptoms of OI. • **Large hypertrophic calluses at fracture or** ** surgical procedure sites. ** • Calcification of the membrane between the radius and ulna to restrict forearm rotation. • Does not have type I collagen mutation. • Dominant inheritance pattern.
 * Types V **

• Similar to Type IV in appearance and symptoms of OI. **• Distinguished by a characteristic mineralization defect seen in biopsied bone**. • Does not have type I collagen mutation. • Mode of inheritance is unknown.
 * Types VI **

• Limited to a set of **Canadian Natives**. • Short humeri and femora. Short stature. Coxa vara. • Results from recessive inheritance of a mutation to CRTAP gene.
 * Types VII **

[] How well a person does depends on the type of OI they have.  There are other types of OI, but they occur very infrequently and most are considered subtypes of the moderately severe form (type IV).
 * Prognosis **
 * Type I, or mild OI, is the most common form. Persons with this type can live a normal lifespan.
 * Type II is a severe form that is usually leads to death in the first year of life.
 * Type III is also called severe OI. Persons with this type have many fractures starting very early in life and can have severe bone deformities. Many become wheelchair bound and usually have a somewhat shortened life expectancy.
 * Type IV, or moderately severe OI, is similar to type I, although persons with type IV often need braces or crutches to walk. Life expectancy is normal or near normal.
 * Signs & Symptoms of OI **[[image:http://t1.gstatic.com/images?q=tbn:ANd9GcTW4q5sakp98v0baJmd1klv0Kv1uzPkwcMLipfa5mB91dFrAluuYw]] [[image:http://images.anagrammer.com/o/s/t/e/o/g/e/n/e/s/e/s/-/05.thumbnail.g03jl02g10x.jpeg]][[image:http://www.schoolbusfleet.com/_Images/articles/M-SBF10evac-open.jpg]]

[]

All types of fractures are possible including the skull, not just the long bones. After puberty there are often fewer broken bones until a person hits menopause, in which case increased frequency may be noticeable once again.

People with OI may have other symptoms:
 * excessive perspiration
 * blue-grey sclera (~50%)
 * shortened stature
 * joint laxity
 * early hearing loss
 * brittle teeth
 * respiratory problems
 * easy bruising
 * thin, smooth skin
 * bowed legs or arms
 * flat feet
 * spinal deformities
 * fatigue?
 * high-pitched voice?

[] [] [] [] **Diagnosing OI** [] www.oif.org
 * Children of Glass [Parts 1-4] by the Discovery Channel on YouTube**

A clinical evaluation of symptoms along with a DNA and protein testing is needed to confirm OI. However, some forms of OI that tested negative to OI testing are considered positive when all other diagnosis have been ruled out. In utero, ultrasound and amniocentesis testing can also be performed. Genetic mutations is in Type 1 collagen 90% of the time. Types II, III, and IV are often born with broken bones. Type I babies often experience their first broken bone during simple diaper changing or other unsuspecting daily activity within the first few years for their lives.

** Nutrition and OI ** To promote bone development and optimal health, children and adults with osteogenesis imperfecta (OI) should eat a balanced diet, which is low in fat, salt and added sugar and contains a variety of vitamins and minerals. Because OI is a genetic disorder of collagen, and not a calcium or nutrient deficiency, there are no foods or supplements that will cure OI. some children with OI. Swallowing studies are useful for evaluating eating problems in infants and children. Dentinogenesis imperfecta (DI), decreased muscle strength and tongue control can make it difficult to transition from a diet based on milk or formula and pureed foods into eating solid foods. Calcium does not improve the basic collagen defects that cause OI. Even so, people with OI need to get adequate calcium in their diets to develop peak bone mass and prevent bone loss.
 * Nutrition Related Problems **
 * Constipation ** is a problem for some people with OI. Pelvic asymmetry, seen in people with more severe OI, is associated with a tendency to have constipation. A high-fiber diet, drinking plenty of water and other fluids and physical activity may help remedy this problem.
 * Difficulties eating solid food ** have been identified as a problem for
 * Malnutrition ** has been identified in some children and adults with OI. It is caused by low caloric intake, difficulties eating solid food, and a decreased appetite.
 * Obesity ** is a serious issue for some children and adults with OI. Lack of physical activity, small body size and a diet high in fat, salt and calories can quickly cause a person to be overweight. Extra weight can impede mobility, put additional stress on weak bones, and increase the risk of other health problems such as diabetes and high blood pressure.
 * Calcium and Bone Health **



[] Many people with OI and their families cope very well with both the physical and the social/emotional problems associated with OI. They lead happy, interesting and successful lives. Just as it is important to learn how to deal with fractures and other medical aspects of OI, it is also important to develop skills for managing stress and uncertainty.
 * Social and Emotional Issues of Living with OI **
 * Stay informed about OI.
 * Learn how others have coped with physical limitations and feeling different.
 * Develop strategies for coping with pain and medical treatments.
 * Develop a personal plan for coping with uncertainty and risk.
 * Surround yourself with people who respect you and provide emotional support.
 * Learn independent living skills.
 * Get a good education and prepare for a career.
 * Get information about sexuality and reproduction.
 * Be aware of the stressors associated with OI. Talk--to family members, friends, other OI families and health care professionals.
 * Get the facts about OI and stay up to date on the latest information.
 * Be an active member of your medical care team - be your own best advocate.
 * Get the best education possible.
 * Find employment.
 * Make time for hobbies -- do things you enjoy.
 * Be physically active on a regular basis.
 * Have fun.
 * Become a creative problem solver.
 * Stay involved with your local community through civic or church activities.
 * Stay connected to the OI community; seek opportunities to meet others with OI.

Read more at… []

** OI Issues:  Dental Care for Persons with OI ** OI may affect the growth of the jaws and may or may not affect the teeth. About half of the people who have OI have teeth that appear normal, and their major concerns are routine care. However, the other half has a defect in the teeth called dentinogenesis imperfecta (DI), sometimes referred to as opalescent teeth or brittle teeth. These teeth may be misshapen, may chip or break easily, and will require special care. Oral cavity problems related to osteogenesis imperfecta may include the following:
 * ** A skeletal Class III malocclusion. ** The teeth do not correctly match up making biting difficult. This is caused by the size and/or position of the upper jaw or the lower jaw.
 * ** An open bite. ** There is a vertical gap between some of the upper and lower teeth.
 * Impacted teeth. The first or second permanent molars do not erupt, or they erupt out of the usual location (ectopic).
 * ** Dental development. ** Tooth development may be delayed or advanced in some individuals affected by OI. OI does not affect the presence or absence of gum disease (periodontitis).
 * ** Dentinogenesis imperfecta ** may be diagnosed with the first baby tooth. If the tooth looks gray, bluish, or brown, DI should be suspected. Children should be taken to a dentist.

[]


 * OI and Vertebral Compression Fractures **

Compression fractures are a common, painful problem for children and adults who have OI. This occurs when an injury causes the spinal bone or vertebra to fracture and collapse (compress). The goal of treatment is to encourage healing, keep the spine stable, restore function and reduce or eliminate pain. It can take 3 months or more to fully heal.

• Sudden, severe back pain • The pain gets worse when you stand up or walk, or bend over • Chronic back pain that doesn’t seem to get better • Loss of height • Worsening of pre-existing spine curves • Other signs can include hip pain, and breathing problems []
 * Symptoms: **


 * Safe Handling Procedures for Patients with OI **

www.oif.org The pdf to the left is an //excellent// resource for neonatal handling, feeding, dressing, bedding, positioning, car seat accommodations, and discharge planning from the hospital to home.

www.oif.org REMEMBER: It is in the child’s best interest to be held and touched, and to explore independent movement to the greatest extent possible. Immobility increases bone loss and fragility, leading to more fractures.
 * Never pull, push, or bend a limb.
 * Lift a baby with OI by placing one hand under the buttocks and legs, and the other hand under the shoulders, neck //and// head. Do not lift the baby from under the armpits, or lift by the ankles to change a diaper. This could cause a rib cage fracture. Be aware of where the baby’s arms and legs are at all times to avoid awkward positions or getting a hand or foot caught.
 * It is important for babies with OI to be held and touched by parents and other caregivers, and that they be allowed to explore independent movement. Supporting infants in a variety of positions (e.g., SL, "tummy time"). //**Fractures will occur** no matter how careful you are, and the physical and emotional benefits of touch and movement outweigh the risks.//
 * When a fracture is suspected, minimize handling of the affected limb.
 * Respect the opinions, advice, or instructions provided by parents, children, and adults with OI. They often have a good sense of whether a fracture has occurred even before confirmation x-rays. They often know the best methods (medication, positioning, lifting, etc.) to minimize pain and distress when a fracture is present.
 * PATIENT MAY NOT SHOW OUTWARD SIGNS OF PAIN WITH A FRACTURE.

www.oif.org Medical Guide Fact Sheet [pdf] [] Bisphosphonate drugs, approved by the FDA, to prevent & treat osteoporosis and bone complications of cancer, are used off label to increase bone density in children and adults with moderate and severe OI. Other treatments being researched include teriparatide (a parathyroid hormone drug), growth hormone, and gene therapies.
 * Non-Traditional Treatments for Patients with OI **

Robert Blizzard et al. Effects of whole-body vibration exercise on prevention of the negative effects of prolonged bed rest //Physical Therapy Reviews// 2010;15;5;391-8.

www.oif.org Medical Guide Fact Sheet [pdf] []
 * Treatment for Patients with OI **[[image:http://www.candoability.com.au/images/ryan%20berger.jpg align="right" caption="adaptive equipment"]] [[image:http://file1.npage.de/008779/06/bilder/oi.bmp align="right" caption="rodding"]]
 * No cure.
 * Treatment is primarily managing fractures, and **active** physical rehabilitation to encourage mobility and independence. Prolonged immobility weakens bones and leads to muscle loss, weakness, and more fractures.
 * Orthopedists often treat fractures with short-term immobilization in lightweight casts, splints, or braces to //allow movement as soon as possible// after the fracture.
 * Physical therapy and occupational therapy are implemented as soon as the child demonstrates decreased muscular strength and may continue as needed throughout the life of the child with OI.
 * Physical activity will remain a focused benefit. Most enjoy adaptive PE.
 * Adults are encouraged to engage in safe, regular exercise to maintain bone and muscle mass. **Swimming, walking, stationary cycling,** and **water therapy** allow independent movement with little fracture risk and are excellent choices for exercise -with or without mobility aids. []
 * Many children undergo **rodding-** metal rods (expandabel and non-expandable) are inserted into the long bones to control fractures and improve deformities interfering with function.
 * Others may require reconstructive surgery to fix malformations from fractures, surgical procedures for deteriorated joints and/or stabilization of the spine.
 * PT Specific Treatment for Patients with OI **[[image:http://osteogenesisimperfectapicture.com/images/Brittle-Bones-Symptoms-thumb.jpg]]

[|http://www.niams.nih.gov/Health_Info/Bone/Osteogenesis_Imperfecta/exercise_activity.asp#c] More detailed information about implementing an exercise and physical activity program for people with OI can be found in // Therapeutic Strategies for Osteogenesis Imperfecta: A Guide for Physical and Occupational Therapists //. To receive a copy of this publication, visit the NIH Osteoporosis and Related Bone Diseases ~ National Resource Center Web site at [|http://www.bones.nih.gov] or call 800-624-BONE (2663) (free of charge).

Below is a link to a person with osteogenesis imperfecta who has maintained independence into adulthood and is now a great business leader. [] PT should begin as soon as an infant demonstrates muscle weakness or motor skill delay when compared with same-age peers.
 * Long-Term Goal for children with OI is __INDEPENDENCE__ in all life functions with AD's as needed.**

www.oif.org As with most diagnoses there is not a specific plan to recovery, because each situation needs to be tailored to meet the demands of each patient's needs and goals.The pdf provides an excellent resource for many of the scenarios a PT might encounter with a patient with OI. Descriptions and advice for PT's are mentioned for the following scenarios:
 * Increasing muscular strength and mastery of gross motor skills, as soon as a child demonstrates age-matched peer deficits.
 * Recovery from a fracture or surgical intervention- rodding, splinting, joint replacements, etc.
 * Decreasing fear of movement and/or falling.
 * When a person needs to learn a new skill or an adaptive new way to perform a skill.
 * Application of adaptive equipment- adult/child car seats, toilets, (shorter) walkers, seat elevating/lowering power wheelchairs, home adaptations (ie. countertops lowered, modified toilets), sock donners, long-handled scrub brushes, bath seats, toilet paper reachers, safety harness and cushions to adaptive potty chairs, electric can openers,
 * Education on protective movement, positioning, and handling.


 * Specific Suggestions from the PT OT Booklet include:**
 * Ask the parents or the individual with OI to show you the safe handling techniques they have developed. Before handling the person or moving a limb, state what you are going to do and how you are going to do it.
 * If they ask you to stop, stop!
 * For young children, using a floppy doll to demonstrate a motion and to problem solve with the parent will make new transitions easier. When the child hears, “It’s your turn,” and the parent helps the child with the intended movement. Children as young as 10 months recognize and start mirroring the doll's movements- increasing activity with less anxiety.
 * It is often preferable to have the parent or caregiver do all handling for a young infant or child at the beginning of a therapy relationship. Then gradually move into the therapist participating. As the child becomes secure and comfortable in the environment, he/she will gradually accept hands-on help from other individuals. Ideally, structure the environment so it is easy for the child to perform the task without an adult’s hands-on help—this approach is safe, puts the child at minimal risk, and reinforces the child’s awareness of what he/she can do independently.
 * It is critical to remember that people with OI do not have impaired coordination or sensation, and do not require the complex, neurologically based interventions used for children who do. The main constraint to movement in OI is weakness. Once a child gets stronger, he/she typically figures out how to accomplish a task and often does not need the guidance of hands-on therapy to do it.
 * Recommended movement progression by King 2001 in PT OT booklet (with suggested modifications): supine->prone->SL->rolling->supported sitting->unsupported sitting->getting to a sit->sit-pivot->sit-scoot-> crawling->kneeling/pulling up to stand
 * To help avoid overstretching and injury, teach people with OI to use their strongest muscle groups (usually the largest) to accomplish tasks.
 * Added length also increases the weight of objects, so careful instruction how to use a reacher is necessary.
 * Establish workstations to prevent unnecessary reaching and carrying- hairdressing, homework, tooth brushing, etc.
 * Utilize water therapy in order to gradually and safely build and/or maintain strength and mobility. Works well to use with the steps of movement progression. Link to water therapy specific for osteogenesis imperfecta. []

=** Is physical therapy an effective intervention for children with osteogenesis imperfecta? **=

OI (OI type I: 24; OI type III: 15; OI type IV: 15). || Cross-sectional study, analyzed UE & LE ROM, muscle strength, and functional abilities among children diagnosed with OI to determine if there were any relationships within the statistical information gathered. Subjects were also evaluated according to age, ie. >7 or __<__7 years old. || Hypermobility and decreased hip strength were common in Type I. Type III had greater social function before age 7 than other groups, along with greater functional disability, malaligned joints, and decreased muscular strength. Type IV (rarest) primarily had proximal muscular decrease, and equal UE & LE malalignment. In the __<__7 yo group, functional skills do not always correlate with the degree of disability-muscular strength or ROM. The authors recommended functional rehabilitation had greater importance for this younger group than only increasing ROM and/or strength. However, the older children had a greater correlation between strength and functional mobility skills. || =Educational Brochure: Tips for transition into the school environment for a child with OI=
 * **AUTHOR** || **SOURCE** || **DATE** || **TITLE** || **SAMPLE** || **METHODOLOGY/ MAIN IDEA** || **RESULTS** ||
 * Zeitlin, Fassier, Glorieux || //Journal of Pediatric Orthopaedics//. 10: 77-87 || March 2003 || Modern approach to children with osteogenesis imperfecta (OI) || Review of modern approach and treatments to osteogenesis imperfecta. || Review of treatment and disease that describes pathogenesis, classification system, treatment of OI with bisphosphonates, orthopedic care, and current rehabilitation programs. || Bisphosphonates have proven to be beneficial for OI, while children with severe OI need internal support of the long bones with metal rods as well correction of any spinal deformities that might occur. Rehabilitation goals include facilitating all safe forms of active movement as well as maximizing functional independence. Interventions can include positioning, AROM, use of orthotics, aquatic therapy, and fitness programs that incorporate endurance training, flexibility, and gentle strengthening and depend on the age of the child. ||
 * Brussel, Takken, Cuno, Hans, Janjaap, Paul, Paoul || //Journal of Pediatrics//. Vol 152, Issue 1: 111-6 || January 2008 || Physical training in children with osteogenesis imperfecta || 34 children (22 female, 12 male) diagnosed with OI (OI Type 1: 27 and OI type IV: 7.) || Randomized clinical trial, examining effects of a 12-week graded exercise program on aerobic capacity and muscle force. || Significant improvement in aerobic capacity and muscle force was found after 3 months of training in children with OI. There were greater improvements in aerobic capacity when compared to healthy children. The effects decreased with time after the intervention was stopped. ||
 * Engelbert, Pruijs, Beemer, Helders || //Archive of Physical Medicine and Rehabilitation//. 79, 1590-3 || December 1998 || Osteogenesis imperfecta in childhood: treatment strategies || 25 articles were reviewed || Literature review examining the pathogenesis, functional consequences, rehabilitation goals/strategies, motor development, spinal involvement, and treatment strategies for children with OI, types I thru IV. || OI is a disorder in the synthesis of collagen I that cannot be treated. Common clinical features include osteopenia, short stature, and progressive skeletal deformities. Rehabilitation may be useful to optimize functional abilities such as walking capacity, and to increase ROM and strength. Surgical treatments such as intramedullary rodding can also help to correct deformities, stabilize and encourage growth. ||
 * R. H. H. Engelbert, Y. van der Graaf, R. van Empelen, F. A. Beemer and P. J. M. Helders || //Pediatrics//. Vol 99. No 2. E3, 1-7 || February 1997 || Osteogenesis imperfecta in childhood: impairment and disability || Cross- sectional study of 54 children ages 1-15 years old (27 male, 27 female) with

**For More Information contact the** **Osteogenesis Imperfecta Foundation at 1-800-981-2663 or www.oif.org****or** []