Osteogenesis Imperfecta (OI) is a genetic bone disorder characterized by fragile bones that break easily. It is also known as “brittle bone disease.” Osteogenesis imperfecta literally means “bone that is imperfectly made from the beginning of life.” A person is born with OI, and is affected throughout his or her lifetime.
Osteogenesis Imperfecta (OI) or Brittle Bone Disease is a complicated, variable, and rare disorder. It’s major feature is a fragile skeleton, but many other body systems are also affected. OI is caused by a mutation (change) in a gene that affects bone formation, bone strength, and the structure of other tissues.
OI is a lifelong disorder, and occurs equally among males and females and across racial groups. It is estimated that approximately 25,000 to 50,000 people in the U.S. have OI. With good medical management and supportive care, the majority of people who have OI will lead healthy, productive lives and can expect an average lifespan.
People with OI experience frequent broken bones from infancy through puberty. The frequency then typically decreases in the young adult years but may increase again later in life. Other medical characteristics and issues can include:
- Bone deformity and pain
- Short stature
- Spine curves
- Low bone density
- Loose joints, ligament laxity, and muscle weakness
- Distinctive features of the skull: late closing fontanels and a head circumference greater than average
- Hearing loss may begin in the early 20s and by middle age is present in more than 50% of people with OI
- Brittle teeth (called dentinogenesis imperfecta or DI) is present in 50% of people who have OI
- Respiratory problems including asthma- this may be aggravated by chest wall deformity and/or spine deformity
- Vision problems including myopia and risk for retinal detachment
- Skin hyperlaxity
- Easy bruising
- Cardiac issues
- Basilar Invagination (a serious neurological problem) is seen in some people with the more severe forms of OI
- Skin, blood vessels, and internal organs may be fragile
OI has a large range of appearance and severity. Severity is described as mild, moderate, or severe, with the most severe forms leading to early death. Clinical features such as fracture frequency, muscle strength, or extra skeletal problems vary widely not only between types, but within types, and even within the same family. Some features of OI are age dependent.
There is evidence that OI has affected people since ancient times. It has been recognized in an Egyptian mummy of an infant from about 1000 BC. The mummy is currently in the British Museum in London, England. A Viking leader who lived in the 9th century, Ivar Ragnarsson “Ivar the Boneless,” probably had OI. He is reported to have been a very wise leader and a very fierce warrior who had to be carried into battle on a shield because his legs were so soft. Case studies of people with fragile bones and hearing loss began appearing in medical literature in the 1600’s. The term “osteogenesis imperfecta” was used in medical literature beginning in the 1840’s. Early in the 20th century OI was identified as a condition people were born with rather than an illness that they acquired later. Today, people who have OI are involved in every walk of life.
This article is based on the brochure Introduction to Osteogenesis Imperfecta: A Guide for Medical Professionals, Individuals and Families Affected by OI. See the section of this website- “About OI/Publications”- for fact sheets, booklets, and videos that provide additional information on many topics related to understanding, treating, and living with OI.
Since the 1970’s, a list of numbered types has been used to describe the different forms of OI. The original list featured 4 types. Today, as a result of recent research, 15 types of OI have been identified. Many people with OI do not fit clearly into one of the identified types and not all characteristics are seen in each person. A description of the more common OI types follows. Understanding the individual’s OI type provides a starting point for understanding the person’s unique health care needs. Because of all of the variable features of OI, care for each person needs to be individualized.
- Type I OI: people with Type I OI, the mildest and most common form, may have only a handful of fractures or as many as several dozen fractures in a lifetime. They may have few obvious signs of the disorder. In Type I, there usually is little to no bone deformity. Height is less affected than in other types of OI, and many people with Type I are often similar in height to other family members. Muscle weakness, joint laxity, and flat feet are common. Dislocations and sprains may occur as well as fractures. Life expectancy appears to be average.
- Type II OI: is the most severe form of OI. Infants are quite small and are usually born with multiple fractures, an unusually soft skull, and an unstable neck. Limbs may be disproportionately small and legs may fall into a frog-like position. The head may be large for the size of the body. Almost all infants with Type II OI die at or shortly after birth, often due to respiratory problems. In the newborn period, it can be difficult to distinguish between Type II and severe Type III OI. This means that some children diagnosed clinically as Type II at birth may actually have Type III OI and have a longer life expectancy.
- Type III OI: People with Type III OI are born with fractures. X-rays may reveal healed fractures that occurred before birth. Common signs include short stature, progressive long bone deformities, spinal curvature, and a barrel-shaped rib cage. People with Type III OI may have anywhere from several dozen to several hundred fractures in a lifetime. Surgical correction of long bone bowing and scoliosis is common. Life expectancy varies. Some people with Type III OI have severe, sometimes fatal, respiratory problems in infancy or childhood. Some children with Type III OI may require supplemental oxygen. Some individuals succumb to respiratory problems in adulthood due to progressive rib cage and spine deformities. Other people with Type III OI will have a near average life span.
- Type IV OI: Type IV OI is the moderate type of OI. The clinical picture can be similar to Type I OI or more like Type III OI. People with this form of OI may be somewhat shorter than others in their family, have frequent fractures that decrease after puberty, and have mild to moderate bone deformity. Life expectancy for people with Type IV OI appears to be average.
- Type V OI: Is moderate in severity and is similar to Type IV in appearance and symptoms. Identifying features include hypertrophic calluses that may form at fracture or surgical procedure sites and restricted forearm rotation due to calcification to the membrane between the radius and ulna.
- Type VI OI: Type VI OI is another moderate form and is similar to Type IV in appearance. This is an extremely rare form. It is distinguished by a characteristic mineralization defect that can be seen in biopsied bone.
For additional information on OI Types see the OIF Fact Sheets.
Genetics and Inheritance
Most people with OI (>90%) have a mutation in one of the two copies of the genes (COL1A1 or COL1A3) that carry instructions for making type 1 collagen- the protein “scaffolding of bone and other connective tissues. These mutations either reduce the amount of type I collagen made or alter the quality of the protein. The remaining individuals with OI have mutations in other genes and the inheritance pattern in those families may be either dominant or recessive.
Children inherit two copies of each gene- one from each parent. When OI is caused by a dominant mutation, only one copy of the OI gene mutation is necessary for the child to have OI. In the majority of cases, the gene is either inherited from a parent who has OI or results from a spontaneous new mutation occurring at the time of conception. In rare cases, dominant OI can occur when a parent is mosaic for an OI mutation. This means that an OI causing mutation is present in a percentage of one parent’s cells, but does not cause any symptoms in the parent. For a child to inherit OI in a recessive manner, the gene mutation must come from both parents. In this situation, the parents do not have OI, but both must carry the mutation in their genes.
A person who has dominant OI has a 50 percent chance of passing on the disorder to each of his or her children. An affected child will have the same mutation, and therefore the same OI, as the parent. However, the expression- the degree of severity, or number of fractures- may be different. Unaffected siblings of a child with dominant OI have no greater risk of having children with OI than anyone in the general population. Unaffected siblings of a child with recessive OI have a 67% chance of being a carrier for the recessive gene. Genetic testing is available for all siblings.
In the last decade, it has been recognized that some individuals do not have mutations in COL1A1 or COL1A2 yet still have OI. In many of these individuals, it has been found that they have two altered copies of a gene, many involved in collagen processing or bone cell maturation. In these families, each parent has one copy of the altered gene and one copy of the normal copy and the condition is referred to as having “recessive inheritance”. The parents are asymptomatic and both must transmit the altered copy of the gene to have an affected child, a situation that will occur in about 25% of the pregnancies. For complete discussion about the inheritance pattern of OI and recurrence risks, parents are urged to consult with a medical geneticist or genetic counselor.
Broken bones that occur from little or no trauma are often the first indication that an infant or child may have OI. Babies with moderate or severe forms of OI are often born with broken bones. Children with milder OI (Type I) often sustain their first broken bone as a result of a normal activity- during a diaper change, while being lifted or burped, or when they begin standing and walking. Some very mild cases of OI Type I are not diagnosed until the teen or adult years.
OI remains primarily a clinical diagnosis. A physician, usually a geneticist, who is familiar with all types of OI, can often diagnose the condition based on the presence of fractures and other clinical features. A family history for the disorder and/or genetic testing can confirm a diagnosis. Additional blood and urine tests are often used to rule out other disorders such as Hypophosphatasia or Rickets.
The most severe forms of OI can be diagnosed prenatally. Ultrasound can detect bowing, fractures, shortening, or other bone abnormalities. But even when ultrasound is done by a highly qualified professional, it may not be possible to pinpoint the type of OI or differentiate between Type II or Type III OI.
Prenatal testing can detect all forms of OI if the genetic alterations are known. They depend on the ability to obtain a DNA sample from the pregnancy and usually take a sample of the placenta by a process known as chorionic villus sampling (CVS) at about 10 weeks after the pregnancy starts. Ultrasound can detect bowing, fractures, shortening, and other bone abnormalities, but even experienced professionals may not be able to pinpoint the type of OI or differentiate between OI Type II (lethal) or OI Type III (severe) or other conditions, if neither parent is affected and there is no genetic information to assist in the diagnosis. Cells obtained through amniocentesis can be used for DNA analysis. A fetal MRI does not see bone well but may offer useful information on other topics. Parents should always be advised as to risks for miscarriage associated with a pre-natal test. Whether one of the parents has OI or prenatal testing suggests the presence of OI symptoms in the fetus, it is recommended that couples seek genetic counseling.
The diagnostic process begins with a clinical evaluation. If the clinical evaluation indicates the possibility of OI, genetic testing of the patient follows. Unless otherwise indicated, a test for the dominant form of OI is done first, followed by the test for recessive OI. Information about pregnancy and birth is informative since a breach position at birth is common among infants who have OI. For parents who have lost a child to a severe form of OI, testing will confirm the diagnosis and help determine the chance of future affected pregnancies.
A variety of disorders may present with recurrent fractures due to bone fragility- that is, not everyone with fractures has OI. Other causes of brittle bones include osteomalacia, disuse osteoporosis, disorders of increased bone density and defects of bone such as fibrous dysplasia and tumors. In determining a cause for brittle bones, it is important to use history, physical examination, laboratory diagnositcs, and radiographic studies to hone the differential diagnosis. If the history and physical examination do not narrow the differential diagnosis sufficiently, then laboratory tests should be employed.
The question of non-accidental injury versus osteogenesis imperfecta arises most often when infants and toddlers experience unexpected or unexplained broken bones. A child with a fragile skeleton may fracture during routine care. Toddlers pulling to stand and beginning to walk are also at risk for a fragility fracture. Children who have OI may fracture from little or no apparent trauma and can bruise easily. Bruises may give the impression of greater trauma. In the interest of providing appropriate medical care, when there are no signs of neglect the possibility of mild or moderate OI or a related bone disorder should be considered. An examination and evaluation by a physician who is experienced in diagnosing OI and other rare bone disorders is warranted. Besides OI, other conditions that feature fragile bones and bruising include: Ehlers-Danlos syndrome, hypophosphatasia, disorders of vitamin D metabolism, disorders of copper metabolism, and premature birth.
There is no cure for OI, but there are ways to manage the symptoms. Despite the obstacles, many people who have OI lead productive and fulfilling lives well into their adult years. The goal of treatment is to minimize fractures, enhance independent function, and promote general health.
Medical care for both children and adults who have OI involves an interdisciplinary team. This can include: a primary care doctor, orthopedists, endocrinologists, geneticists, rehabilitation specialists, neurologists, and pulmonologists. Treatment from these specialists may include fracture care, physical therapy, surgical procedures, medications, lifestyle features, and mobility aides.
- Fracture Care: casting, splinting, and bracing broken bones can help them heal properly. However, long periods of immobility can further weaken bones and lead to muscle loss, weakness, and more fractures. Many orthopedists prefer to treat fractures with short-term immobilization in lightweight casts, splints, or braces to allow some movement as soon as possible after the fracture.
- Physical Therapy and Safe Exercise: Goals for physical therapy include expanding and maintaining functioning and promoting independence. A typical program includes muscle strengthening and aerobic conditioning. Physical therapy often begins in infancy to counteract the delay in motor skill development many children experience due to OI related muscle weakness. Adaptive devices may be needed.
- Occupational therapy can help with fine motor skills and selection of adaptive equipment for daily living. As a child with OI grows older and gains more independence, he or she will benefit from continued physical activity. Adults with OI also benefit from safe and regular exercise to maintain bone and muscle mass. Swimming and water therapy are particularly well-suited for people with OI of all ages, as they allow independent movement with little fracture risk. Walking is also excellent exercise for those who are able (with or without mobility aids).
- Surgery: Surgery may be needed to repair a broken bone, correct bone deformities such as bowing, stabilize the spine, or repair tiny bones in the middle ear and improve hearing. Many children with OI undergo a surgical procedure known as rodding- in which metal rods are inserted into the long bones to control fractures and improve deformities that interfere with function. Both non-expandable and expandable rods are available.
- Medications: Bisphosphonate drugs, which are currently approved by the Food and Drug Administration (FDA) to prevent and treat osteoporosis are used off label to increase bone density in children and adults with moderate and severe OI.
Other drugs that were developed to treat osteoporosis are also used to prevent age-related bone loss in adults who have OI. Teriparatide (a drug based on the parathyroid hormone) is one of them. Treatments under study include growth hormone and gene therapies. The search continues for a drug treatment that is specific to OI.
- Healthy Lifestyle: People with OI benefit from a healthy lifestyle that includes safe exercise and a nutritious diet. Adequate intake of nutrients, such as Vitamin D and calcium, are necessary to maintain bone health. However, extra-large doses of these nutrients are not recommended.
Maintaining a healthy weight is important since extra weight adds stress to the skeleton, heart, and lungs and reduces the ability to move easily. In addition, people with OI should avoid smoking, second hand smoke, excessive alcohol or caffeine consumption, and steroid medications, all of which reduce bone density.
- Other treatments that focus on OI-related symptoms include: hearing aids, crowns for brittle teeth, supplemental oxygen for people with breathing problems, and mobility aids.
- Sutton VR. Differential Diagnosis of Osteogenesis Imperfecta in Children (253-266). In Shapiro JR. (Ed.). (2014). Osteogenesis Imperfecta: A Translational Approach to Brittle Bone Disease 1st edition. New York, NY: Elsevier Academic Press.
- Bober MB (Ed.). (2013). Introduction to Osteogenesis Imperfecta: A Guide for Medical Professionals, Individuals and Families Affected by OI. Gaithersburg, MD: Osteogenesis Imperfecta Foundation.
- Website- Information about and resources for genetic testing may be found on GeneTests (www.genetests.org) or the GTR: Genetic Testing Registry (http://www.ncbi.nlm.nih.gov/gtr/).
Related OIF Podcast Episodes:
- Treatment Implications in Genetic Heterogeneity in OI
- Physical and Occupational Therapeutic Strategies for Adults with OI
- Physical and Occupational Therapeutic Strategies for Children with OI
- Multidisciplinary Care for the Pediatric Patient with OI
- Rodding Surgery and OI
Mild to significant short stature and a slow growth rate occurs in OI. Hip and back pain due to poor alignment and leg length discrepancies occur in all types of OI and should be evaluated by an orthopedist and/or a gait specialist.
Early definitions of OI refer to a syndrome of fragile bones and hearing loss. This suggests that the problems seen in people with OI include more than just brittle bones. In dominant OI, the mutation in type 1 collagen affects not only the skeleton, but also the collagen-rich tissues in other organ systems. The non-skeletal clinical features of OI vary in the degree of severity. In some instances, age is also a factor. Research is needed to fully understand the prevalence and best approach to the management of non-skeletal issues in OI.
More detailed information and recommendations for many of the following topics is provided in the supporting documents for this section.
- Dental Oral-Facial: OI affects the growth of both jaws and tooth development. About 50% of people with OI have dentinogenesis imperfecta (DI). Regular dental care is recommended for all people with OI beginning within 6 months after the primary teeth erupt and continuing throughout life. Other common oral cavity problems related to OI include: impacted teeth, anterior and posterior open and cross bites and skeletal class III malocclusion.
OIF Podcast: Craniofacial and Dental Issues in OI
- Pulmonary: In people with severe forms of OI, respiratory complications are a leading cause of death. Although respiratory problems are usually more severe in those with severe OI, the primary collagen defect affects lung tissue in all people with OI, including those with a mild phenotype. Altered lung tissue predisposes the person to respiratory infections.
Rates of asthma and pneumonia are higher in children and adults who have OI. Chest wall deformities, rib fractures, kyphoscoliosis, chest wall weakness, limited mobility, and the effects of gastrointestinal problems such as constipation and reflux all contribute to poor pulmonary function. Fatigue, breathlessness, and wheezing are frequent symptoms. Manifestations can also include exercise intolerance and sleep apnea.
OIF Podcast: Pulmonary Issues and OI
- Hearing: Approximately 50% of adults with OI have a measurable hearing loss, which typically arises in the second or third decade of life. Bone quality and structural abnormalities of the ear bones-including visible deformities in the ossicles and the inner ear- contribute to the loss. Environmental factors affecting hearing may cause a loss sooner than the unaffected population. Most hearing loss in OI is mixed but conductive, and sensorineural types of loss are seen. There is a range of severity, and some people report experiencing tinnitus and vertigo. Treatments include hearing aids and/or surgery such as stapedectomy or cochlear implant. Physicians should be alert to dangers of ototoxins in this population.
OIF Podcast: Hearing Loss in Patients with OI
- Cardiovascular: The prevalence of cardiovascular problems among people with OI is unknown. The most frequently reported cardiovascular issues are hypertension and mitral valve prolapse. Heart valve problems are believed to develop over time. They are more of a concern for adults with OI, but are infrequently seen in children. Cardiac surgery, including valve replacement, has been successful.
- Neurological: Intelligence is typically normal in people with OI. People with all subtypes of OI may develop basilar impression (BI) over time, with those with severe OI having greater risk. Enlarged head circumference is seen in infants and children with OI and may or may not be caused by hydrocephalus. Evaluation is required; shunting is possible
- Vision: People with OI seem to experience the common refractive errors such as myopia, hyperopia, or astigmatism at about the same rate as people without OI. More serious conditions like glaucoma or retinal detachment are seen in adults, with the rate of incidence unknown. Blue sclerae, a frequently described finding, may be associated with corneal thinning. Scleral thickness is normal in OI Type I, but may be thin in other types of OI.
- Connective Tissue: Blood Vessels, Skin, Tendons, and Ligaments: Thin blood vessels and thin skin may cause people with OI to bruise easily. The skin of people with OI may be stiffer and less elastic, which can increase the risk for scarring. Reduced muscle strength may be significant for people with moderate and severe forms of OI. Joint laxity is common and contributes to frequent sprains and dislocations, particularly of the ankles, hips, shoulder, thumbs, and elbows. Flat feet are common, particularly in people with Type I OI. Hernias may be present at birth and occur more frequently in children with OI than in the general population.
- Endocrine: People with more severe forms of OI are often short; however, growth hormones and other hormones are typically normal. Excessive diaphoresis has been reported in individuals with all types of OI. Young women with OI may start menstruating later than young women without OI.
- Gastrointestinal: Constipation is common in both children and adults with OI. Spine, hip, and pelvic deformities contribute to this constipation in severely affected children. Treatments include diet, hydration, physical activity, and medication. Celiac Disease, gluten sensitivity, and colitis are reported in children, teens, and adults with all types of OI, but it is not clear if these are more common in people with OI.
- Pain: People who have OI experience acute pain from an injury, surgical pain, and varying degrees of chronic pain. Back pain may be due to compression fractures of the spine or spine curves (such as scoliosis or kyphosis). Some people may have pain without evidence of a fracture. Adequate pain management is essential to maintaining mobility and quality of life for people with OI. People with OI feel the same level of pain as others, but may complain less because they experience pain more often than others.
Glorieux FG (Ed.) (2007) Guide to Osteogenesis Imperfecta for Pediatricians and Family Practice Physicians. Gaithersburg, MD: Osteogenesis Imperfecta Foundation.
Shapiro J., Byers PH, Glorieux FG, Sponseller PD (Eds.) (2014). Osteogenesis Imperfecta: A Translational Approach to Brittle Bone Disease 1st edition. New York, NY: Elsevier Academic Press.
Thank you to Dr. V. Reid Sutton, Baylor College of Medicine & Texas Children’s Hospital; Houston, TX for reviewing this section. March 2015
Supporting Podcast Episodes:
- Hearing Loss in Patients with OI
- The Importance of Treating the “Whole” Person with OI
- Pulmonary Issues and OI
- Craniofacial and Dental Issues in OI
- Disability Identity and OI
Care for children who have OI should be customized to meet the needs of each individual child. No two children with OI are exactly alike. The picture of OI varies greatly, not only between different types, but also within groups. Elements of a care plan will include:
- Management of skeletal and non-skeletal issues
- Rehabilitation to enhance function and encourage development of maximum bone mass
- Nutrition counseling for health and weight control
- Surgical/hospital care that reflects knowledge of OI and respect for bone and tissue fragility
- Referrals to other specialists, including mental health professionals, as needed
- Attention to normal childhood disease and immunizations
- Age appropriate information about reproductive health and sexuality.
Precautions to take when caring for a person with OI
There are certain precautions that should be taken when working with someone with OI. These include:
- Never pull or push on a limb, or bend it into an awkward position, not even to take an x-ray
- Use caution when inserting IVs, taking blood pressure, or performing other medical procedures to avoid causing injury
- Always dose medicines to the size, NOT the age of short statured adults
- 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. Based on experience, they give good directions for the safest ways to lift, carry, or reposition. Having dealt with dozens of fractures and medical procedures, even children have a good sense of when a bone is broken before x-rays are taken.
- Handle babies with extra care.
- 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.
- Do not lift by the ankles to change a diaper- rather, slide a hand under the buttocks.
- Babies do not need to be kept on a pillow or soft surface. Encourage babies to explore independent movement.
- Supporting infants in a variety of positions (e.g., side lying, stomach lying) develops muscles that will help with sitting and standing later on.
Children benefit from coordinated interdisciplinary care from physicians familiar with OI. A number of medical centers across the United States and Canada have OI clinics and/or research programs, often as part of a genetics or bone dysplasia center. The OI foundation can assist in helping you find a clinic through our “clinic directory”.
In other communities, the parents and primary care physician work together to create a network of health care providers for the child with OI. Clear and timely communication between all health care providers is important.
General Pediatric Care
The general health needs of children with OI are the same as other children. Typical childhood illnesses can be expected, but ear infections may occur more frequently. Children with all types of OI have a predisposition to respiratory infections, and they may be more serious in children with Type III OI. Immunizations are not contra-indicated and are encouraged. Physicians with experience caring for children with OI suggest:
- Titrate medication to a child’s weight, not age, even with older children and teens
- Monitor the use of non-steroidal anti-inflammatory (NSAIDS) drugs- some have been linked to retarded bone healing after fracture
- Minimize the use of drugs that contain steroids because of negative effects on bone metabolism
- It is beneficial when PCP office personnel are trained in OI-specific safe handling techniques.
When working with children with OI, the following should be monitored:
- Routine screenings for vision, hearing, and dental care
- Spine checks for scoliosis and kyphosis beginning at age 2
- Bone density testing is recommended to help monitor changes over time. A baseline test when a new course of treatment is started is informative along with a test approximately 6-12 months after a change in treatment
- Echocardiogram as a baseline heart valve screening during later teen years or early young adult
- Consult with an orthodontist no later than age 7 to assess jaw development, and the presence of malocclusions or cross-bite
- Perform a baseline quantitative Pulmonary Function Test (PFT) on all children with OI at age 5 or when the child can cooperate, and again at maturity (age 20-25 years). If PFT is normal, repeat every 2 years.
Diet and Nutrition
Children with OI need a balanced diet containing enough water, fiber, calcium, and vitamin D calibrated to their age and size. Here are some important things to keep in mind about diet and nutrition and OI:
- Nutrition Counseling for parents and children may be beneficial
- Slow weight gain is seen in infants- this may not be failure to thrive
- Swallowing difficulties, which are reported in some toddlers, may require referral to an occupational or speech therapist, or a nutritionist who treats feeding disorders
- Small appetite is seen in children of all ages- inactivity, pain, medications, and depression are potential causes
- Constipation is seen in children of all ages and with all types of OI (and can even be recurrent). Short stature, inactivity, pelvic deformity, and difficulty with hydration are contributing factors
- Weight control is important- obesity places a strain on the fragile skeleton and can lead to loss of mobility
- Hormonal changes related to puberty can contribute to unhealthy weight gain, especially in girls who have OI
Living with OI can present emotional as well as physical challenges for the child, parents, and siblings. Health care providers are encouraged to note signs of depression, substance abuse, and fearfulness, and to make referrals to mental health professionals.
Children with OI may experience low self-esteem and anxiety. Children with the milder forms of OI may struggle to cope with having a hidden disorder that can be misunderstood by their peers. Older children may become discouraged by the repeated need to re-learn mobility skills, receive painful therapies, and miss out on activities with their peers due to fractures and reduce mobility. Even relationships between siblings can even be strained.
OI does not affect a child’s ability to think and learn, but children with OI often demonstrate delays in meeting developmental milestones. These delays can be the result of repeated immobilizations after fractures, misalignment of the long bones and joints, and the general hypotonia and ligamentous laxity common in OI. Interventions can include physical and occupational therapy, braces, use of adaptive equipment and mobility aides. Small-muscle development, especially in hands and fingers, is likewise affected. To the best of our current knowledge, the incidence of autism, hyperactivity, and childhood cancers is believed to be similar to children without OI.
Mild to significant short stature and a slow growth rate occurs in OI. Hip and back pain due to poor alignment and leg length discrepancies occur in all types of OI and should be evaluated by an orthopedist and/or a gait specialist. Height and weight charts for the child with OI are available.
Glorieux F. (2007) Guide to Osteogenesis Imperfecta for Pediatricians and Family Practice Physicians. Osteogenesis Imperfecta Foundation. Gaithersburg, MD.
Thank you to Dr. Francis Glorieux, Canadian Shriners Hospital for Children and McGill University in Montreal, Quebec, for reviewing this information. April 2015.
Related OIF Podcast Episodes:
- Physical and Occupational Therapeutic Strategies for Children with OI
- Multidisciplinary Care for the Pediatric Patient with OI
- Surgical Updates on Treating Children with OI
- Measuring Efficacy of Physical Rehabilitation in Children and Adults
- Transitioning; Taking Charge of your Health as a Young Adult
The Adult health initiative is a multi-year effort sponsored by the OI Foundation. It is a series of research projects, publications, and outreach efforts to OI Adults and their Physicians. The long term goals for the Initiative are to: increase knowledge about the health status, needs, and health priorities of adults with OI; Encourage, and when necessary, self-fund studies specifically designed to improve the health of adults who have OI; and equip adults who have OI and their health care providers with information they need to anticipate problems and when possible, prevent or minimize symptoms that are aggravated by time and age.
The general health needs of adults with OI are the same as in unaffected adults. OI may complicate treatment of various illnesses or injuries due to the fragility of the bones, the blood vessels, and the internal organs. Special health needs may include pulmonary (breathing issues) and a possible increased risk for heart valve problems. Weight management, healthy diet, appropriate exercise, and maintenance of bone mass are the cornerstones of health management for adults.
Some of the issues to keep track of are: routine screenings for vision, dental, and hearing; obtaining a baseline Quantitative Pulmonary Function Test (PFT) to monitor Lung Function; a baseline echo-cardiogram for young adults with blood pressure monitoring; post-menopausal changes to spine, joints, and signs of arthritis; changes in pain level; and potential for non-OI problems.
When discussing medications with your doctor, make sure that you discuss adjusting the dose of medication to your weight and height, rather than age; monitor the use of NSAIDS due to the link to delayed bone healing after fracture; minimize the use of drugs that contain steroids because of the negative effects on bone; and discuss your risk of spontaneous tendon rupture seen in people with a connective tissue disorder when using antibiotics known as fluroquinolones (Cipro, Levaquin).
You can find more resources about this initiative in our Fact Sheets, Podcasts, and Current Studies page.
Related OIF Podcast Episodes: