Musculoskeletal Case Study - Osteogenesis Imperfecta PDF

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Warning: TT: undefined function: 32 Osteogenesis imperfecta is an uncommon genetic disease that is associated with brittle bones and fractures in adults and children, categorised by defects in type one collagen which is the primary component of the extracellular matrix of bone and skin proteins (Alb...

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Osteogenesis imperfecta is an uncommon genetic disease that is associated with brittle bones and fractures in adults and children, categorised by defects in type one collagen which is the primary component of the extracellular matrix of bone and skin proteins (Albert, Fritz, Hartris, & Shaker, 2015). Harriet, an 8-year-old female, presents to the emergency department querying a fracture to her left femoral shaft after a simple fall at school. During the medical admission paperwork, it is disclosed by Harriet’s mother that she has a medical history of osteogenesis imperfecta with a significant history of fractures throughout her childhood. This paper will examine the effect this femoral shaft fracture has on Harriet and her condition while gaining insight into the nursing priorities and holistic nursing care required for Harriet and her family throughout her childhood. While falls are a normal occurrence for children, most are of little consequence, with most children falling many times in their lives but not sustaining significant injury. Despite this, the occurrence of fractures from low-energy falls within this population is small compared with the frequency of fractures from high-energy falls and accidents (Wang, et al., 2017). Due to this, Harriet’s fracture is abnormal for her age group, highlighting the effect osteogenesis imperfecta has had on her bone formation, making her more susceptible to fractures. Children suffering from osteogenesis imperfecta are at high risk of experiencing fractures due to gene inconsistencies within the COL1A1 and COLA1A2 genes which affect the development of type one collagen (Bullock & Hales, 2013). This mutation leads to low bone mass and fragile bones, allowing Harriet to suffer a femoral shaft fracture from a simple fall despite this injury usually requiring significant force. In a child who does not suffer from osteogenesis imperfecta, a fracture typically would not occur.

Osteogenesis imperfecta is unique to other bone fragility conditions due to hypermineralisation seen in the bone material itself, manifesting into brittle bones which are commonly associated with this condition (Bishop, 2016). Collagen fibres, within a sufferer of osteogenesis imperfecta, do not adhere to the strict interactive arrangement required to form normal collagen rods. This causes the bone matrix to be looser, allowing more space between collagen molecules reducing the overall strength and stability of the bone matrix. In addition, an increased number of osteocytes are present due to increased cell turnover caused by the rate of matrix synthesis by osteoblasts, contributing to the decreased bone strength (Baron, Gertner, Lang, & Vignery, 1983; Shaker, Albert, Fritz, & Harris, 2015). During admission paperwork, it has been established that Harriet has no limb length disparity and no external rotation. This is significant as it provides insight into the severity of the femoral shaft fracture Harriet has suffered. If external rotation had occurred, this would indicate that Harriet had a displaced fracture, commonly requiring surgery to realign the femoral shaft for healing (Brown, et al., 2014). Limb length disparity, however, can also give insight into bone displacement, while also providing an indication of past fractures and whether this has had an effect on Harriet’s limb length. Due to the significant history of fractures Harriet has, caution must be taken to ensure the epiphyseal line within the femoral head has not been damaged, as this would decrease the bones capability to grow and lengthen throughout the growth phases (Bullock & Hales, 2013). Harriet, due to her diagnosis, must have medications regularly prescribed for the management of this disease. Pamidronate has been prescribed for this purpose. Pamidronate is an antihypercalcaemic agent that inhibits bone reabsorption by adsorbing to hydroxyapatite crystals in bone, which may block the dissolution of calcium phosphate and

blocks mature osteoclast formation without inhibiting bone formation or mineralisation (McKenna & Mirkov, 2014). Harriet’s admission paperwork states she is receiving 30mg of pamidronate via IV once per month. In the child, pamidronate is currently undergoing a clinical trial where it should be infused over 3-4 hours, with a dosage calculation of 1mg/kg/cycle, repeating every three months (Marginean, Tamasanu, Mang, Mozos, & Brad, 2017; Zacharin & Bateman, 2002). By following this course of pamidronate treatment children have been seen to have increased mobility and improved quality of life. However, as this medication is currently only undergoing clinical trials for its use in children, this is contraindicated for Harriet, unless other measures have failed to control the condition (MIMS Australia, 2015). Therefore, this medication should be ceased immediately until the medication and dosage are reviewed by a medical professional. Intravenous pamidronate may be used to treat children suffering from moderate to severe osteogenesis imperfecta, indicated when all other measures have been unable to provide benefits to the patients’ condition. While this has been reported to be beneficial to children resulting in an increased vertebral bone mass and size, reduced bone pain, increased muscle force and growth rate, studies have indicated that bisphosphonates such as pamidronate can be associated with delayed healing of osteotomy sites (Munns, Rauch, Zeitlin, Fassier, & Glorieux, 2004; Anam, Rauch, Glorieux, Fassier, & Hamdy, 2015). While the occurrence of delayed osteotomy healing is occurring less frequently, it is essential education is provided to Harriet and her family, so they are aware of this side effect associated. In addition to the regular medication Harriet is taking, pain medication and nonsteroidal antiinflammatories have been prescribed to assist in the pain management caused by the femoral

shaft fracture. Paracetamol 450mg via IV has been prescribed 6 hourly for Harriet during her time in hospital, which is compliant with the 15mg per kg dosage recommended for children (MIMS Australia, 2015). Paracetamol, a nonsteroidal anti-inflammatory is thought to produce analgesia by blocking the generation of pain impulses (McKenna & Mirkov, 2014). This will allow Harriet’s pain to be controlled while she is recovering from the femoral shaft fracture without significantly impacting the natural inflammatory responses associated with a fracture. In the event that Harriet’s pain is not controlled by the paracetamol charted, oxycodone and morphine have been prescribed for Harriet as required. Oxycodone, a mild opioid analgesic, binds with opiate receptors within the CNS to alter the perception of and emotional response to pain (Lee, Wanigasekera, & Tracey, 2014). If Harriet reports to nursing staff that she has significant pain, oxycodone can be administered as break-through analgesia to ensure she does not suffer from unnecessary pain. In addition, IV morphine has also been prescribed for Harriet’s acute pain. Morphine is a stronger opioid analgesic, which again binds with opiate receptors within the CNS, and has an onset of five minutes when administered through an IV (Bullock & Manias, 2017). This will allow Harriet significant pain relief for four to five hours while she is experiencing a peak in her pain levels. When Harriet presented to the emergency department a set of vital sign observations were taken to provide an insight into her current condition. Within this Harriet advised she was currently in severe pain, with a pain score of seven out of ten making pain management an immediate nursing priority. As discussed above, Harriet has been prescribed two analgesics which are to be administered as required, in addition to regular IV paracetamol. Pain associated with a fracture is substantial, requiring effective analgesia to be implemented to

provide relief for this pain. Commonly, physicians administer opioid analgesia for severe pain, however, studies have shown nonsteroidal anti-inflammatories have provided a greater reduction in pain when used in conjunction with opioids for children (Morris, Stulberg, & Stevermer, 2010; Hartling, et al., 2016). Based on this information, nursing staff should ensure IV paracetamol is given as prescribed, in conjunction with one of the opioid medications until Harriet’s pain is controlled. Nursing staff must also prioritise the mild respiratory distress Harriet is in, due to having a respiratory rate of 30. Uncontrolled pain affects all body systems, and when present increases respiratory distress in children. The increased respiratory rate seen in Harriet may cause symptoms such as light-headedness and numbness and tingling of the extremities, exacerbated by the emotional response Harriet has had to the femoral shaft fracture (Berman, et al., 2015). As this respiratory distress has not affected Harriet’s oxygen saturation, by controlling the pain she is experiencing; her respiratory rate should decrease naturally with no need to administer oxygen. In addition to an increased respiratory rate, nursing staff should increase the frequency of vital sign observations on Harriet, due to her heart rate and blood pressure. Due to the haematological effect pain has on all body systems, once Harriet’s pain has been controlled pre-operatively, stabilisation should be seen in these vital sign observations. Until this time, frequent review of vital signs is necessary to ensure there are no significant changes which may indicate a decline of Harriet’s condition. Nursing staff should also record any fluid intake and output to ensure the femoral fracture has not affected Harriet’s ability to produce urine, indicating dehydration.

While Harriet is waiting to be reviewed by orthopaedics, Harriet has been placed as Nil by Mouth (NBM) in case surgery is required to secure the femoral shaft fracture. Therefore, nursing staff must ensure Harriet and her mother understand why she is unable to consume anything by mouth while waiting for this review. In addition, education must be provided to Harriet regarding her IVC, explaining why this has been inserted and how it will be used during her time within the emergency department. Lastly, time should be reserved by nursing staff to discuss with Harriet her injury, so an understanding of the femoral shaft fracture can be reached. This may include education regarding healing time, how the fracture will be healed, and any instruments she may be required to use during her recovery and rehabilitation time. During this conversation, assessment should be conducted to determine how Harriet interprets her condition of osteogenesis imperfecta, allowing for questions to be answered regarding all issues she may be worried about. This conversation should include her mother, as due to Harriet’s age her family will be integral in supporting Harriet during her childhood and specifically recovering from this fracture. It should be explained during this time that nurses will regularly be assessing her left leg, ensuring that the circulation continues to be present within the extremity, evaluated by the capillary refill time which is currently stable at less than three seconds. Holistic nursing care, a comprehensive patient care considering the physical, emotional, social, spiritual and economic needs of the patient, is crucial for the management of complex, chronic diseases such as osteogenesis imperfecta (Harris, Nagy, & Vardaxis, 2014). This condition affects not only the physical but also the emotional and social well-being of children and their families, making a multidisciplinary approach crucial to the care Harriet will receive.

Due to her current femoral shaft fracture, acute and chronic approaches must be implemented to allow Harriet to maximise function, well-being and independence during her recovery. Muscle atrophy is commonly associated with femoral shaft fractures, due to the immobilisation and period of inactivity during healing time making the limb more susceptible to fractures in the future (Heideken, Svensson, Iversen, Ekbom, & Janarv, 2015). Due to Harriet already being susceptible to fractures it is essential an exercise program is implemented as soon as possible to promote strength, fitness and independence for her in the future. In devising an exercise program for Harriet, it is essential her interests are kept forefront, highlighting the need for physiotherapists, occupational therapists, nurses and medical officers to work closely with Harriet and her family in the development and application of this program. Due to the severity of Harriet’s osteogenesis imperfecta, it can be concluded she is suffering from type IV osteogenesis imperfecta, classified under the original classification system. This can be determined due to type I being the mildest form of the condition, while type II is frequently lethal at birth and type III causing significant physical disability (Brown, et al., 2014). Type IV osteogenesis imperfecta is an autosomal dominant form affecting bone fragility and bone mass, making sufferers susceptible to bone fractures which can have a significant effect on both the physical and emotional development of a sufferer. Before Harriet is discharged, it is critical that referrals are made within the multidisciplinary team to ensure she continues to receive holistic care from home. It is essential children with osteogenesis imperfecta consume a balanced diet which is low in fat, and added sugars, containing a large variety of vitamins and minerals. This is crucial as constipation is commonly

experienced by suffers, making it essential that a dietician and/or nutritionist is included within Harriet’s care team, allowing for this issue to be addressed. In addition, occupational therapists, speech pathologists, psychologists, audiologists and a social worker should be coordinated into the treatment plan Harriet receives. Harriet should undergo a hearing test to determine whether her condition has affected her hearing, which is seen in 50% of children suffering from osteogenesis imperfecta. By determining whether Harriet’s hearing has been affected, this will allow hearing aids to be provided if necessary, reducing language development from being affected (Brennan-Jones, White, Rush, & Law, 2014). Due to the many issues associated with caring for a child with Harriet’s condition, it is essential a social worker is provided to assist with issues which are not medical, such as education, equipment, social support and housing. A social worker will also be able to create connections for Harriet’s family within the health industry with professionals such as an occupational therapist who will assist the family with structuring their home in a way which is accessible to Harriet. If it is determined that Harriet will require surgery to realign her left femoral shaft, Harriet must be assessed post-operatively to ensure no complications occur. Complications may include airway obstructions, hypoxaemia and hypoventilation in addition to circulation being affected within the extremity (Brown, et al., 2014). Neurovascular assessments should frequently be completed to detect early neurovascular changes, while also assessing vital signs to ensure Harriet is hemodynamically stable, with no effect on her respiratory status.

Osteogenesis imperfecta is a severe genetic disease associated with brittle bones and frequent fractures throughout the lifespan. Harriet, an 8-year-old female presents to the emergency department after a simple fall at school, causing a left femoral shaft fracture. After confirming a medical history of osteogenesis imperfecta, it is essential holistic nursing care is provided to Harriet and her family, while prioritising nursing care based on the needs of this condition.

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