Clinical Conditions Portfolio: Osteogenesis Imperfecta
OCTH 5120
Stockton University
Abstract
Osteogenesis imperfecta, also known as brittle bone disease
Keywords:
Description of Diagnosis
A. Incidence/Prevalence
Incidence and prevalence are statistical values used to describe rates of populations with specific diseases or conditions. Incidence is a measure of the number of new cases regarding a characteristic that develops in a population to a specific time period (NIMH, 2018). Prevalence is the proportion of a population who have specific characteristics in a given time period (NIMH, 2018). Due to the large number of subtypes of Osteogenesis imperfecta (OI), it can be difficult to accurately describe the incidence and prevalence. According to the U.S. National Library of Medicine, Osteogenesis imperfecta affects an estimated 6 to 7 per 100,00 people worldwide. There are eight types of OI, and types I and IV are the most common forms and they affect 4 to 5 per 100,000 people (NIH, 2018). Type I is the mildest and most common form and accounts for 50 percent of the total OI population (OIF, 2015). The estimated incidence of OI is approximately 1 per 20,000 to 30,000 births in the United States. This is considered to be an orphan disease, which is defined in the U.S. as a disease affecting 200,000 patients of less (Marini, 1988).
The Osteogenesis Imperfecta Foundation (2015) states that the number of people affected with OI in the United States is unknown, with an estimate minimum of 20,000 and maximum of 50,000. According to the National Institute of Health, OI affects all genders, races, and ethnic groups in the United States equally (NIH, 2016). Therefore, the types of populations affected with OI in the United States are equal. There are multiple studies that describe the incidence and prevalence of OI in various parts of the world. Unfortunately, there has not been a recent study that directly estimates the prevalence of OI in the United States. However, one study from Finland estimates that OI affects approximately 1 to 15,000 (Kuurila, et al., 2002). If you extrapolate that prevalence to the estimated number of cases in the United States, approximately 18,000 people in the United States would be affected by OI. Another recent study in Sweden estimated the prevalence of OI to be 1 to 13,500. This study also described the prevalence for the different subtypes with type I being 5 to 100,000, type III 0.89 to 100,000, and type IV 1.35 to 100,000 (Lindahl, et al., 2015).
One study, by Shapiro and Martin (2007), describes the overall incidence of OI to be 1 to 15,000 to 1 to 25,000 live births. Finally, a study from the United Kingdom, by Bishop and Walsh (2014) states that OI is the most common inherited disease that causes bone fragility, occurring with a frequency of 1 in 5,000 to 1 in 10,000 births. Regarding the age range of diagnosis, the individual can be diagnosed in utero (prenatally) or at birth. Evidence of OI is often present at birth and in several instances, it can be seen on a prenatal ultrasound as early as 14 weeks (OIF, 2015). Milder forms of OI may not be recognizable until the child is walking or begins to walk (OIF, 2015).
b. Etiology
c. Clinical Sequence
d. Management
Although there is no cure for osteogenesis imperfecta, there are many different management techniques used to help minimize bone fractures, reduce pain, and improve overall wellness. Minimizing bone fractures can be managed with reducing impact such as staying away from contact sports, intense exercise, and physically laboring activities. Light exercise and movement is more ideal for the patient. Staying moving and mobile will help strengthen muscles, joints, and bones to prevent injury. Physical therapy as well as light exercises can help maintain mobility, improve joint function, resulting in preventing fractures. Another option for helping with bone stability would be a surgical procedure called rodding. In this procedure, an orthopedic surgeon inserts metal rods into long bones of the client to strengthen the bones and improve overall support for the body. Not only does this strengthen the bones, but it also can help correct deformities. Medications can also help minimize fractures such as using IV or oral bisphosphonates, vitamins, and calcium which help with maintaining bone mass (Osteogenesis Imperfecta Overview, n.d.).
For pain management, medications may be given as well as rehabilitation, PT, and stress coping activities. Pain comes from stress level, so in order to manage pain, stress is a big influencing factor. Using stress techniques like slow breathing, stretching, journaling, or talking to a therapist can help improve stress and pain (Osteogenesis Imperfecta Overview, n.d.).
Diet is also an important factor in managing OI. A patient with OI needs to consume proper nutritional supplements and a healthy diet to help manage symptoms as well as have good preventative health. Vitamin D, calcium, and phosphorus are important vitamins to help with bone strength. Refraining from excessive drinking and smoking also help improve overall health which helps with organ and brain function as well as bone support. The healthier a client is, better outcomes for OI (Osteogenesis Imperfecta Overview, n.d.).
e. Prognosis
The prognosis for someone with OI is determined by the severity and amount of symptoms they have. Type I osteogenesis imperfecta is mild enough that someone with this diagnosis can live a typically normal and long lifespan. Type II osteogenesis imperfecta is the most severe and can cause death within the first year of life from heart or respiratory complications. Type III OI can cause many fractures in the beginning of life resulting in bone deformities and mobility issues. Type III has a somewhat shortened lifespan. Type IV osteogenesis imperfecta is mild and has a normal life expectancy while needing a mobility aid the majority of the time. Respiratory issues are the most common complication leading to death in a patient with OI (Kaneshiro, 2017).
Integration of Occupational Therapy Practice Framework
Activities of Daily Living (ADLs). People with OI have a difficult time completing many of their ADLs. Toileting and toilet hygiene can be affected due to OI weakening and fracturing bones which leads to muscle loss. Without proper strength, toileting may be difficult especially for children who may have increased difficulty reaching and sitting on the toilet due to their short stature and instability. Many people with OI use a wheelchair, so toileting may be hindered due to inability to transfer oneself to the toilet. Showering and grooming are also affected, due to lack of strength, slippery surface, and inability and lack of the strength needed to properly access and transfer themselves into the bathtub. Dressing is also impaired due to loss of strength and range of motion with joints and extremities. Dressing might also cause pain with the pushing and pulling movements of the limbs, especially with a client that has a current fracture. Feeding may be affected due to limited mobility and strength. Babies may lack a sucking reflex which makes feeding more difficult. With children and adults, reaching items safely, reaching up, and moving around the kitchen may be difficult due to mobility issues and strength loss. (OIF, 2017).
ii. IADLs
Individuals with Osteogenesis Imperfecta
iii. Rest and Sleep
Individuals with OI experience a range of fatigue and pain symptoms throughout their day, therefore rest and sleep (i.e. sleep participation) is an occupation that can be hindered with this diagnosis. Ligamentous laxity and hypermobility are common features of OI, which can have a significant impact on individual’s participation in day to day life (Marr, Seasman, & Bishop, 2017). Marr (2017) notes that, children with hypermobility lack strength and stamina to perform gross and fine motor activities, which can cause fatigue. Fatigue and lack of stamina are common symptoms of OI, which can be related to bone pain and poor sleep patterns (Marr, Seasman, & Bishop, 2017). This may affect children in their rest and sleep occupation regarding sustaining a quality state of sleep without interruptions or disturbances.
In a recent study by Arponen et. al., (2018), fatigue was self-reported in 96% of the individuals and 76% of the patients reported symptoms that suggest the presence of a sleep disturbance, such as sleep apnea. Individual’s with OI have difficulties breathing due to compressed and shortened chest cavities, thus breathing while sleeping can become an issue. Also, it is reported that patient’s chronic and generalized pain are associated with insomnia, difficulties in falling asleep, and frequent arousal (Arponen, et al., 2018). There is potential of fractures during sleep due to movement and bone fragility, therefore disrupting sleep performance and causing pain and discomfort (Arponen, et al., 2018). Through these symptoms, the quality of rest and sleep participation can be affected with those diagnosed with OI.
iiii. Education
Children and adolescents diagnosed with OI are able to attend school, therefore formal educational participation (i.e. academic coursework) is not hindered. However, the settings and accommodations at school are different for those with OI, therefore nonacademic and extracurricular settings will be impacted (i.e. hallway, recess, sports). Children with OI struggle with being safe and careful, reduced function, manage pain and fear of fracture, lack of independence, and isolation (Marr, Seasman, & Bishop, 2017). Consequently, they find participation at school and in the wider community difficult (Marr, Seasman, & Bishop, 2017). Informal personal education participation may be difficult for school aged children with OI because they require adaptations and aids. In one study, secondary school aged children talked about having additional adult support to promote safety, but also how they avoided school activities and busy areas to keep safe (Hill, Baird, & Walters, 2014). Also, fear of fracture holds children back from participating in certain school-based activities. Parents of children with OI reported their child is being left out of physical education (PE) and sports day, but also not being able to keep up with their peers or siblings (Hill, Baird, & Walters, 2014).
Regarding ambulatory hindrances, primary school children reported using wheelchairs because they became tired if they had to walk a long distance. Adolescents in higher education, such as college and being exposed to college campuses require mobility aids (Marr, Seasman, & Bishop, 2017). It is reported that students are supported too move independently around school with reasonable adjustments, such as lift access and leaving lessons early (Marr, Seasman, & Bishop, 2017). Due to adjustments in the mobility of the individual, modifications such as leaving lessons early, may pose a further hinderance on participating in academic work (i.e. formal education participation). Therefore, the formal and informal personal education participation, participation in extracurricular activities, and nonacademic settings can be hindered for school-aged children and adolescents with OI.
v. Work
Individuals with OI often report pain, weakness, and fatigue (NIH, 2015). With these symptoms, an individual can experience negative impacts on job performance in a workplace (i.e. sustainment and difficulties performing the requirements of the job). Increased fatigue, pain, and weakness can reduce the amount and quality of work of an individual. Also, hearing loss in individuals with OI is significant. The NIH (2015) states, approximately 50% of individuals with OI will experience significant hearing loss during their lifetime, which tends to become more severe with age. Clinically significant hearing loss is not noted before the patient is in their 20s and steadily rise into middle age (Marini, 1988). This age range is a crucial time period for work involvement. Hearing loss can affect job performance in regard to impacting job requirements and relationships and interactions with coworkers, managers, and customers.
Also, as mentioned above with school settings, mobility aids are often used with individuals affected by more severe types of OI. The most common mobility aids are wheelchairs, braces, and various other mobility aids (OIF, 2015). Such mobility adaptations could be problematic in maneuvering around the workplace. In addition, the employment setting is required to be flexible in providing accommodations, such as prohibiting discrimination against people with disabilities in places of employment (U.S. Department of Labor, 2018). These stipulations are enforced by the Americans with Disabilities Act (ADA). Therefore, symptoms such as fatigue, pain, decreased mobility, and hearing loss can hinder an individual’s job performance and impact the overall occupation of work.
vi. Leisure
vii. Social Participation
b. Client Factors
i. Body Functions
1. Mental Functions
2. Sensory Functions & Pain
3. Neuromuscular & Movement-Related Functions
4. Cardiovascular, hematological, immunological, and respiratory system function
5. Voice & Speech Functions; Digestive, metabolic, and endocrine system function
A common feature of individuals with OI regarding voice and speech function is obtaining a high-pitched voice (OIF, 2015). This may hinder social interaction and people may find it difficult to understand individuals with OI that have a very high-pitched voice. Individuals with osteogenesis imperfecta often have conditions involving the gastrointestinal system such as; constipation and Celiac disease, gluten sensitivity, and colitis are reported in children, teens, and adults with all types of OI (OIF, 2015). Constipation is the most common digestive and gastrointestinal issue with OI. This can be attributed to the abnormal spine, hip, and pelvic deformities. Individuals often treat chronic constipation with laxatives (OIF, 2015). Endocrine issues with OI result in shorter stature, excessive diaphoresis (i.e. sweating), having a higher baseline temperature, and delayed menstruation in women (OIF, 2015). These client factors are notable hindrances and symptoms in voice and speech, digestive, metabolic, and endocrine system functions in those with osteogenesis imperfecta.
6. Genitourinary and reproductive functions
A review of the literature revealed no genitourinary issues in osteogenesis imperfecta, therefore urination and urinary functions are not affected (Granild-Jensen, et al., 2011). Renal complications were reported but urinary functions were not impacted (Granild-Jensen, et al., 2011). However, reproductive functions can be impacted for a woman with osteogenesis imperfecta. The main concern with women who have OI is regarding pregnancy. It must be noted that depending on the type of OI a woman has, her pregnancy can be normal or have complications (OIF, 2015). Women with mild OI may not experience adverse effects from pregnancy, but they may obtain loose joints, reduced mobility, increased bone pain, and dental problems during pregnancy (OIF, 2015). Bone density is an issue with pregnancy and OI because women with OI do not regain lost bone density after pregnancy or do not regain it as quickly as other women (OIF, 2015). This can be problematic for patients with OI because they previously obtain brittle bones from the disease.
Typical OI symptoms such as short stature, spinal curvature, and rib cage deformities can cause additional strain on individual’s predisposed compressed abdominal region and therefore, impact a growing fetus (OIF, 2015). Such strain can cause difficulty breathing, discomfort, and more serious problems that require hospitalization (OIF, 2015). According to the OIF (2015), pregnancy is not clearly related to an increase in maternal fracture risk. Although, carrying a child to full term may place additional stress on weakened bones and loose joints due to the osteogenesis imperfecta. Obstetrical manipulation and movement during delivery may result in fractures (OIF, 2015). Due to risk of complications, a pregnant woman with osteogenesis imperfecta should consider being seen by a specialist high-risk pregnancy to promote a safe gestational period and delivery (OIF, 2015). For these reasons regarding pregnancy complications, the reproductive system and functions in an individual with osteogenesis imperfecta can be negatively impacted.
7. Skin and related-structure functions
In osteogenesis imperfecta the normal structure, function, and integrity of the skin are disrupted. Cutaneous manifestations of OI include: thinness, translucency, easily bruised, and impaired elasticity (Chien, Mu, Kang, 2013). Due to the thinness and impaired elasticity, individuals with OI may experience more frequent tears and breaks in their skin. Also, the increased possibility of bruising may be attributed to defective collagen in small blood vessels (OIF, 2015). Types of OI that experience easy bruising are types I and IV (NIH, 2016). Finally, individuals with OI are reported to have blue colored sclera. This is the most common ocular finding in osteogenesis imperfecta (Marini, 1988). In reviewing the literature, blue colored sclera does not pose a functional problem in vision to those with OI. Easily bruised and disruptions in skin integrity may cause interference in functioning for those with OI, resulting in possible hesitation in participation of activities.
III. Sociocultural, socioeconomic, diversity factors and lifestyle choices
IIII. Evidence-Based Article & Summary
Evidence-Based Article & Summary
The article titled “Managing the patient with osteogenesis imperfecta: a multidisciplinary approach†by Marr, Seasman, & Bishop (2017) discusses the multidisciplinary approach to the treatment of children and adolescents living with OI. Such medical professionals include, medical, surgical, and allied health professionals and their individual roles in treating a patient with osteogenesis imperfecta (Marr, 2018). The introduction noted that a multidisciplinary team (MDT) often manage chronic and complex diseases, such as osteogenesis imperfecta, and is a large part of clinical practice. The article mentioned the Metabolic Bone Disease Service at Sheffield Children’s Hospital (SCH), in the United Kingdom, their original MDT in 1998 was comprised of, a full-time clinical nurse specialist (CNS), half time physical therapist and full-time occupational therapist. Since then, the MDT has grown drastically. The published article focuses on the roles of the physician, orthopedic surgeon, neurosurgeon, CNS, therapeutic strategies (occupational and physical therapy), psychology, speech and language therapists and dieticians, and social worker.
The article provides detailed descriptions of the roles of the physicians, surgeons, CNS, and the other related healthcare fields (i.e. speech therapy, psychology, and social worker). The most significant section of the article was dedicated to the therapeutic treatments, such as occupational and physical therapy. The article states that the long-term goal for children with OI is to live independently and develop the skills to enable them to direct their own care, this is achieved through therapeutic interventions (Marr, 2017). Measuring patient outcomes were used with the Brief Assessment of Motor Function (BAMF) and the OI Pediatric Specific Quality of Life Questionnaire (OI qual). PT and OT interventions included muscle strengthening; prevention of joint contractures; prevention of malalignment; improvement in function including personal activities for daily living; transfers and ambulation; and modification and graded performance of everyday tasks (Marr, 2017). The article divided the age groups by babies and toddlers, children, and adolescents and explained the types of treatment occupational and physical therapists would implement for individuals with OI.
The article mentioned that in infants, positioning, handling, and transportation require considerable therapy input (Marr, 2017). Therapy promotes and ensures appropriate handling and support to minimize fracture risk, promote quality alignment, and prevent additional or worsening deformities. For example, in Sheffield, their practice is to handle babies with severe OI in supine to promote increase of their angle over the first 2 years of life (Marr, 2017). Also, for babies and toddlers, the Sheffield Children’s Hospital consider wheelchair provision as early as 18 months, which align with developmental milestones for typical ambulation (Marr, 2017). Whereas, children acquire skills, make friends, and develop a sense of meaning in life through active participation. The occupational therapist’s role at SCH during this age is to consider the importance of energy conservation, positioning, and joint protection in addition to mobility and environmental access (i.e. mobility and environmental adaptations in school) (Marr, 2017).
Finally, occupational therapists in conjunction with CNS, encourage adolescents and adults to take responsibility for function, and adjustment and well-being in all domains of life (Marr, 2017). The article mentioned that this strategy is implemented by the occupational therapists with the Metabolic Bone Team at SCH. Also, adolescents and adults with OI may require manual or powered wheelchairs with an elevated seat allowing mobility in their day to day lives (Marr, 2017). Overall, the article illustrated the different types of multidisciplinary teams that would treat patients with OI. In reading the article, it is evident that there are numerous and effective ways to treat an individual, across the lifespan, with OI through occupational therapy.
References
K. Kaneshiro, N. K., MD, MHA (Ed.). (2017, September 05). Osteogenesis imperfecta: MedlinePlus Medical Encyclopedia. Retrieved from https://medlineplus.gov/ency/article/001573.htm
Osteogenesis Imperfecta Overview. (n.d.). Retrieved November 2, 2018, from https://www.bones.nih.gov/health-info/bone/osteogenesis-imperfecta/overview#f
Physical and Occupational Therapists Guide to Treating Osteogenesis Imperfecta. (2017). The Osteogenesis Imperfecta Foundation (OIF), 1, 23-30. Retrieved November 2, 2018, from http://www.oif.org/site/DocServer/PT_guide_final.pdf?docID=201