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Please note that the last update of this guide was June 2005
Osteogenesis imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. OI is a highly variable disorder with signs and symptoms ranging from mild to severe. In addition to fractures, people with OI often have muscle weakness, joint laxity, and skeletal problems that can interfere with motor skills and daily function.
Physical and occupational therapists can help people with OI maximize strength and overcome functional limitations by teaching them and their families about protective handling to avoid injuries, protective positioning and movement to strengthen muscles and develop motor skills, and use of appropriate adaptive equipment. This publication provides an introduction to OI. It also presents common problems that those with OI face, and therapeutic strategies that have proven effective.
Parents of children with OI, adults with OI, and therapists can share the information in this publication as they work together to find solutions that help a particular child, teenager, or adult achieve and maintain motor and personal care skills. Chosen activities should address the individual's particular needs and interests.
OI is caused by genetic defects in the structure or synthesis of type 1 collagen. Type 1 collagen is the major protein "building block" of bone. Individuals with Type I (mild) OI have half the normal amount of collagen, but it is all structurally normal. Individuals with Types II, III, and IV (severe and moderate) OI have structurally abnormal collagen. (The OI types are further explained below.) These defects in the collagen lead to weak bones that fracture easily.
Signs and symptoms of OI may include frequent fractures; muscle weakness; joint laxity; short stature; blue or gray sclera (whites of the eyes); thin, smooth skin; easy bruising; spinal curvature; bowing of long bones; and excessive sweating and heat intolerance. Some people with OI have a barrel-shaped rib cage and/or a triangular face. Some experience hearing loss, often beginning in early adulthood but in some cases beginning in childhood. Some also have a condition called dentinogenesis imperfecta, which affects the teeth.
A classification system of four OI types is commonly used to help define how severely a person with OI is affected. This system is referred to as the Sillence classification after the Australian doctor who developed it in the 1970s.
It is important to note that the features of OI (fracture frequency, muscle strength, bone and joint alignment) vary greatly from person to person, even among people with the same type of OI and even within the same family. Not all characteristics are evident in each case. In addition, many people with OI do not fit clearly into one of these four types. Types I to IV OI are determined based on clinical and radiographic data. Researchers are beginning to identify additional types of OI. Two new types of OI, Types V and VI, appear clinically similar to Type IV but have a distinct histology. When working with an individual who has OI, therefore, it is most important to focus on his or her particular abilities, strengths, and weaknesses rather than on his or her OI type.
OI treatment involves caring for fractures, maximizing independent mobility and function, and developing optimal bone mass and muscle strength. Surgery may be done to insert metal rods into the long bones to reduce malformations and control fractures. Medications developed for perimenopausal osteoporosis are currently being tested in OI. They have been shown to increase vertebral bone density and decrease bone pain. Some studies have also reported a decreased fracture rate and increased mobility, but the medication's effects on ambulation and the long bones of the legs still are not clear. Use of wheelchairs, braces, walkers, and other mobility aids may be necessary for optimal independence and mobility.
Achieving and maintaining goals related to maximum function, independence, and self-care requires a team approach, with physical therapists, occupational therapists, orthopaedists, and orthotic specialists working together with the patient and his or her family.
The long-term goal for people with OI is independence in all life functions (e.g., self-care, locomotion, recreation, social interaction, education, and work), with adaptive devices as needed or, in the case of very severely affected people, the ability to direct their own care.
For many years, the parents of children with OI, particularly in severe cases, were told to carry their children around on a pillow and not to expect them to achieve independent function. This led to their being treated as infants even as they grew into school age and beyond. It is now clear, however, that most people with OI can achieve some level of independent mobility and function with the help of physical and occupational therapy, appropriate exercise, surgical intervention, medications, adaptive equipment, and environmental adaptations at home, school, or the workplace.
Maximizing a person's strength and function not only improves his or her overall health and well-being. It also improves bone health, because mechanical stresses and muscle tension on bone help to increase bone density. Encouraging people with OI to adopt different body positions during the day will help strengthen different muscle groups and possibly prevent or minimize malformations, such as a flattened skull, a highly scooped lower back, or tight hip flexor muscles.
Ongoing or intermittent physical and occupational therapy is appropriate in a number of circumstances:
In working with individuals and families living with OI, therapists should keep two principles in mind:
There are some basic principles of safe handling that are important to follow anytime a therapist is working with someone who has OI. Fractures can occur simply because a part of the body was slightly twisted, pushed, pulled, or compressed. People with OI and their caregivers have extensive knowledge of what handling practices are safe for their individual cases. They should be encouraged to tell others in new situations that they are experienced in safe handling to prevent injury.
Protective Positioning: A key method for helping a person with OI maximize strength and function is to encourage him or her to adopt various positions throughout the day or, in the case of an infant or young child, to encourage parents and other caregivers to place the child in different positions. Position changes not only strengthen different muscle groups but also help prevent contractures and malformations that can limit mobility and increase pain. It is important to keep the hips and spine as straight as possible, prevent flattening of the back of the head from lying supine, and promote head-turning in both directions.
In many cases, everyday objects can be used to make different positions easier and safer. For example, towel rolls and padding can be used to encourage upright posture and avoid "frog-leg" positioning in a wheelchair, car seat, or stroller. An infant or child can be encouraged to try prone positioning by lying on the parent's chest, a partially inflated beach ball, or a foam wedge.
Protected Movement: New positions and skills should be introduced gradually to allow the person to feel safe and promote gradual strengthening of muscles and bones. Providing adequate support is important to overcome weakness and prevent injury. According to Marnie King, an occupational therapist with extensive experience with children who have OI,
Therapists can begin by assessing the person's current functional abilities. Is he or she stuck at a particular level of progression? The goal in therapy will be to gain the next level or improve within the lying, sitting, and walking levels. Thus, the goal for a very severely affected person might be to lie in a supported, inclined position. For a severely affected person, learning to sit-scoot might enhance his or her self-care skills. More mildly affected people may gain walking skills with or without braces or other aids. Very mildly affected people may function at the same level as their unaffected peers with occasional modifications or limitations, such as no high-impact activities. Activity analysis will need to be done in very small increments to assess progress. Parents of children with OI need to know that many developmental milestones might not be met but will be compensated for by building skills around them. For example, a particular child might not be able to crawl or independently get into a sitting position, but he or she can improve sitting skills and may use a power reclining wheelchair later to compensate.
King suggests a specific developmental progression for children with OI, as follows:
Some people with OI will achieve all of these skills, although interruptions in progress and reverting to previous skills are common because of fractures and surgery. Others will achieve only some of these skills. However, supplemented by equipment and environmental adaptations, any level of proficiency with these skills will increase potential for independent function and self-care.
Water Therapy: Water provides an ideal environment for people with OI to practice protected movement and learn new skills. Water not only cushions bones and joints and protects the person from falls, but it also provides gentle resistance along the entire length of bones. This resistance helps to strengthen bones and muscles, and prevent fractures that are caused when too much pressure is applied to an isolated area. Swimming and other water exercise often become favorite fitness activities for older children and adults with OI.
Practicing the above-listed developmental progressions in the water can reduce fears and help make transitions from one position to another easier. Once the skills are mastered in the water, they can be tried on land. (See Resources — Publications: King 2001, p. 109 for a diagram of how progressions can be practiced in the water.)
Examples of water therapy that can promote new skills are:
The equipment available to help a person with OI function independently is practically unlimited if one considers both traditional adaptive equipment as well as "homemade" solutions to everyday challenges. Important concepts to consider when choosing equipment are energy conservation, joint protection, mobility, and accessibility. In considering these concepts, the goal is for the person with OI to be as independent as possible in his or her daily life.
Energy conservation: To help a person function most efficiently, evaluate what tools and environmental adaptations might be needed so that he or she can accomplish common tasks without excessive strain or fatigue. Establishing workstations, such as a homework station, toothbrush station, or hair-drying station, with all needed materials in one place and within reach, will prevent unnecessary reaching or traveling around the room searching for things. Baskets or bags attached to a wheelchair, walker, or crutches allow the person to carry things from room to room. Clothing that is easy to put on, such as pullovers and pants with elastic waists, will minimize the effort needed to dress and undress.
Joint protection: To help avoid overstretching and injury, teach people with OI to use their strongest muscle groups (usually the largest) to accomplish tasks. Suggest tools that will minimize strain during day-to-day tasks, such as jar openers and electric can openers, and low shallow shelves to help access items. Reachers must be used carefully because the added length increases the weight of the object.
Mobility: Many people with OI use a mobility aid at some point in their lives. Some may only need assistance when they are learning a new skill or recovering from a fracture or surgery, while others will use a walker, crutches, wheelchair, or other aid most of the time.
Accessibility: Physical environments at home, school, or work can be modified to allow maximum independence. While extensive structural changes – such as ramps or lowered kitchen and bathroom surfaces – are sometimes called for, some accessibility problems can be addressed 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 or her home, classroom, or office. Because the world is not modified for short-statured people, using a wheelchair with a seat elevator should be considered when needed. (For more information, See Resources — Suppliers of Specialized Equipment.)
An important byproduct of making homes as accessible as possible for children with OI is that the children can better participate not only in their own care but also in household responsibilities. It is vital, both for the child's well-being and the family's healthy functioning, that children with OI take responsibility for appropriate household tasks. To help children do their jobs safely, families may need to modify room arrangements and storage of household items.
The following table lists many commonly used types of equipment that help to maximize function for people with OI and some factors to be considered when choosing appropriate equipment. Note that this list is only a starting point. More specific ideas and recommendations can be found in the section on self-care tasks that follows the table as well as in the other publications listed at the end of this publication. It is vital to choose equipment that matches a particular individual's strengths, weaknesses, and interests as well as those of his or her family.
* Brand names included in this publication are provided as examples only, and their inclusion does not mean that these products are endorsed by the National Institutes of Health or any other Government agency. Also, if a particular brand name is not mentioned, this does not mean or imply that the product is unsatisfactory.
Toileting, bathing/grooming, dressing, and food preparation are four key self-care tasks. These tasks are often challenging for people with OI, particularly if they are short-statured, use a wheelchair, and/or are recovering from a fracture or surgery. Helping people with OI become independent or semi-independent in these key tasks will do a great deal for their overall well-being and sense of self-esteem. Therapy goals should be to assist the individual to the next higher level of independence for the greatest freedom. Levels of independence are:
Toileting: Toilet teaching a toddler often involves a "one step forward, two steps back" pattern. With children who have OI, that pattern may be even more pronounced, as a child who is learning to use the toilet may go back to diapers when recovering from a fracture or surgery. But while toilet teaching may take longer than average in some cases, people with OI can achieve independent or semi-independent toileting with the help of modified or specialized equipment.
Bathing/Grooming: Bath time often gives a severely affected infant some of his or her first experiences of independent movement, and does so with less chance of fracture. 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. Older children and adults may benefit from such adaptations as a sliding transfer bench, a shower seat, grab bars, and a hand-held shower head. 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.
For grooming tasks, such as brushing teeth or styling hair, it is helpful to use the "work station" concept discussed previously. For example, a hair dryer can be plugged in and mounted to the wall next to a low mirror, with combs, brushes, and styling aids in a drawer nearby.
Dressing: Infants with OI should be dressed in clothing that minimizes stretching, pushing, and pulling of limbs, such as t-shirts that snap open up the front and play suits with snaps along both legs and the torso. For older children and adults with OI, simple, easy-on clothes, such as pants with elastic waists, are useful. They may find it easiest to dress while sitting on a bed or bench. Clothes often need to be modified for people who are short-statured or are wearing a cast. For example, a seam can be cut and hook-and-loop material sewn onto the seam so it can be opened and closed around a cast. Dressing tools, such as reachers and sock donners, may be useful for some people. Closet rods can be lowered by using ropes or chains to hang a broom handle horizontally from the existing closet rod. Other clothing should be stored on shelves or in drawers that the person can easily reach.
Food Preparation: From a child who wants to fix an after-school snack to an adult living in his or her own home, people with OI benefit from having an accessible kitchen where they can prepare 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. Commonly used items should be stored in low drawers or cabinets near where they will be used (e.g., cups stored near the refrigerator, pots stored near the stove, etc.). Lazy Susan turntables and pull-out shelving make items easier to reach. A loop of rope or fabric can be attached to the refrigerator door to allow a person to hook the loop onto his or her wheelchair and pull the door open. Beverage containers can be stored on the lowest door shelves for easy access, and the contents of large beverage containers can be divided into smaller containers so they are not so heavy. A miniature "ramp" can be placed in front of the microwave, so the person can slide a plate or bowl out of the microwave onto the counter without having to lift a hot, heavy item. "Heat and eat" convenience foods can be useful for people with limited mobility and strength, as they can be prepared in the microwave in lightweight plastic containers.
The NIH Resource Center provides fact sheets and other resources free of charge to families living with osteogenesis imperfecta and to professionals. (See end of this publication for contact information.)
For more information, the Center refers people to the Osteogenesis Imperfecta (OI) Foundation. In addition to the books listed below, which are available for purchase, the OI Foundation publishes numerous brochures and fact sheets on OI issues that are free of charge. The foundation can also connect physical and occupational therapists with other professionals who have extensive experience with OI.
804 West Diamond Ave., Suite 210
Gaithersburg, MD 20878
Toll Free: 800-981-BONE (2663)
Other resources of interest include:
Bleakney DA, Donohoe M. Osteogenesis Imperfecta. In Campbell SK, Vander Linden DW, Palisano RJ (eds): Physical Therapy for Children. 2nd edition. Philadelphia: W.B. Saunders; 2000: 320-338.
Cintas H, Gerber L. Motor Performance: Succeeding Despite Brittle Bones. In Wacaster, P (ed): Managing Osteogenesis Imperfecta: A Medical Manual. Gaithersburg, Md.: Osteogenesis Imperfecta Foundation; 1996: 101-108.
Dollar EP (ed). Growing Up with OI: A Guide for Families and Caregivers. Gaithersburg, Md.: Osteogenesis Imperfecta Foundation; 2001.
This 15-chapter volume is the OI Foundation's most comprehensive resource
to date on the medical, social, family, and emotional issues faced by families
living with OI. It is an excellent resource for any professional seeking more
information on OI. Chapters of particular interest to physical and occupational
therapists are individually cited below.
Gerber L, Cintas H. Exercise and Activity: A Balance Between Work and Play. In Dollar EP (ed): Growing Up with OI: A Guide for Families and Caregivers. Gaithersburg, Md.: Osteogenesis Imperfecta Foundation; 2001: 131-145.
King MM. Personal Care for Lifelong Independence. In Dollar EP (ed): Growing Up with OI: A Guide for Families and Caregivers. Gaithersburg, Md.: Osteogenesis Imperfecta Foundation; 2001: 87-129.
McCabe M, Rosalie N. Educating the Child with Osteogenesis Imperfecta. In Dollar EP (ed): Growing Up with OI: A Guide for Families and Caregivers. Gaithersburg, Md.: Osteogenesis Imperfecta Foundation; 2001: 161-208.
Osteogenesis Imperfecta Foundation. Plan for Success. Gaithersburg, Md.: Osteogenesis Imperfecta Foundation; 1998.
Plan for Success is a video, with a companion brochure, covering issues
related to educating children with OI in public schools, including mobility and
Wacaster P (ed). Managing Osteogenesis Imperfecta: A Medical Manual. Gaithersburg, Md.: Osteogenesis Imperfecta Foundation; 1996.
Customized bathroom equipment
101 Activeaid Rd.
Redwood Falls, MN 56283-0359
Phone: (800) 533-5330
Hydro-Fit Aquatic Fitness Gear
Flotation vests and foam accessories for water therapy
160 Madison St.
Eugene, OR 97402
Phone: (800) 346-7295 or (541) 484-4361
Children's Medical Ventures
Positioning aids for infants and small children (gel pads, car seat inserts)
275 Longwater Dr.
Norwell, MA 02061
Phone: (888) 766-8443
Little People of America
Information on products to aid people with short stature
5289 NE Elan Young Pkwy., Ste. F-700
Hillsboro, OR 97124
Phone: (888) LPA-2001 or (503) 846-1562
661 Rte. 23S
Wayne, NJ 07440
Phone: (800) 443-4926 or (973) 628-7600
North Coast Medical
ADL aids, splinting products
18305 Sutter Blvd.
Morgan Hill, CA 95037-2845
Phone: (800) 821-9319 or (408) 776-5000
One Step Ahead
Child safety equipment, specialized clothing, toys, etc.
P.O. Box 517
Lake Bluff, IL 60044
Phone: (800) 274-8440
Power wheelchairs with seat elevator and tilt
6961 Eastgate Blvd.
Lebanon, TN 37090
Phone: (800) 736-0925
Mobility aids, bathroom equipment
Community Products, LLC
359 Gibson Hill Rd.
Chester, NY 10918-2321
Phone: (800) 777-4244
The Right Start
Child safety equipment, specialized clothing, toys, etc.
Phone: (888) Little-1(548-8531)
ADL aids, splinting products
4 Sammons Court
Bollingbrook, IL 60440-4995
Phone: (800) 323-5547
* Organizations included in this publication are provided as examples only, and their inclusion does not mean that their products are endorsed by the National Institutes of Health or any other Government agency. Also, if a particular organization is not mentioned, this does not mean or imply that the product is unsatisfactory.
This publication was compiled from materials previously published by the Osteogenesis Imperfecta Foundation, including several book chapters and articles by Lynn Gerber, M.D., and Holly Cintas, P.T., Ph.D., and the chapter in Growing Up with OI: A Guide for Families and Caregivers by Marilyn Marnie King, OTR/L. (See Resources — Publications for more information about these materials.)
The NIH Resource Center is grateful to the occupational and physical therapists who shared their expertise, including Tim Caruso, OT; Jane Olson, OT; Victoria Wittenberg, PT; to Ellen Painter Dollar who edited the original publication, and to the Osteogenesis Imperfecta Foundation for help in preparing and reviewing this publication.