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Osteogenesis Imperfecta (OI) vs. Occupational Therapy (OT)


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This is a presentation I did last semester in which I discuss how the OTPF applies to osteogenesis imperfecta. I collected data from scholarly as well as non-scholarly resources. I hope this is helpful to you.

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Osteogenesis Imperfecta (OI) vs. Occupational Therapy (OT)

  1. 1. Chevahlyan Dozier
  2. 2. Description Osteogenesis Imperfecta (OI) or the more common “brittle bone disease,” is a genetic disorder characterized be severe fragility of the bones.
  3. 3. Background There are 8 different types of OI Type I is the mildest and most common form. Type II is the most severe form (usually results in death before or shortly after birth). Type III is considered to be the most severe type among children who survive the neonatal period. Type IV can range in severity from relatively few fractures, as in OI Type I, to a more severe form resembling OI Type III. Types V, VI and VII are moderate in severity and similar in appearance and symptoms to OI Type IV. Type VIII can be similar to Types II or III in appearance and symptoms.
  4. 4. History OI has been identified in a 3000 year old mummy. The earliest studies of OI began in 1788 with the Swede Olof Jakob Ekman. An earlier system by E. Looser in 1906 separated OI into two categories: • “osteogenesis imperfecta tarda” (less severe type). • “osteogenesis imperfecta congenita” (more severe type). Has since been replaced with the current method pioneered by David Sillence in 1979.
  5. 5. Etiology Autosomal dominant Autosomal recessive Autosomal dominant OI (Type’s I- VI) result from defective connective tissue, or the inability to produce it, usually caused by mutations in the Type I collagen genes. About 90% of these mutations occur in the genes COL1A1 on chromosome 17 and COL1A2 on chromosome 7. Autosomal recessive OI (type’s VII and VIII) does not involve mutations in the type 1 collagen genes. • Type VII results from recessive inheritance of a mutation in the cartilage-associated protein gene CRTAP gene. • OI Type VIII is caused by absence or severe deficiency of prolyl 3-hydroxylase 1 activity due to mutations in the LEPRE1 gene. Spontaneous mutation is also known to occur with all types of OI.
  6. 6. Etiology cont…
  7. 7. Incidence (statistics) It is estimated that OI affects 6 to 7 per 100,000 people worldwide. The number of Americans affected with OI is thought to be 25,000 to 50,000. Type I is the mildest and most common form of the disorder, accounting for 50% of the total OI population. Types II- VIII comprise the other 50% of the OI population.
  8. 8. Detection Methods Collagen studies and DNA analysis; **however, negative results on these tests do not eliminate a diagnosis of OI** Dual-emission X-ray Absorptiometry (DXA) Single-energy X-ray Absorptiometry (SXA) Quantitative Computed Tomography (QCT) Quantitative Ultrasound Sonography Amniocentesis Chorionic Villus Sampling
  9. 9. Signs and Symptoms muscular and skeletal features Other prominent clinical signs bones that break easily skeletal malformations of the limbs, chest, and skull height that ranges from shorter than average to normal general or specific muscle weakness disproportionately short limbs multiple bone fractures (most before puberty) kyphosis or scoliosis (abnormal curvature of the spine) noticeable laxity in ligaments and unusual joint flexibility particularly thin skin that is noticeably soft and smooth and prone to bruises (may resemble the atrophic skin of older people) healing of wounds and surgical incisions that result in larger than normal scars triangular face shape dentinogenesis imperfect (DI) (noticeably brown, purple or opalescent and brittle teeth) sclerae (whites of the eyes) which may have a blue, purple or gray tint increased perspiration
  10. 10. Blue Sclerae Scoliosis Signs and Symptoms
  11. 11. Signs and Symptoms skeletal malformations
  12. 12. Signs and Symptoms Dentinogenesis imperfecta
  13. 13. Medical Management and Treatments Non-surgical interventions physiotherapy and occupational therapy positioning aids (to help sit, lie, or stand) braces to support legs, ankles, knees and wrists (to prevent deformity and promote protection) casts, splints or wraps for broken bones mobility aids such as canes, walkers, or wheelchairs other custom-made equipment or aids for independence Education (safe handling, protective positioning, safe movement, energy conservation, etc.) psychological counseling Possibly total body vibration in the future
  14. 14. Medical Management and Treatments cont… surgical interventions medications rodding dental procedures spinal fusion heart surgery various other corrective surgeries Bisphosphonate medications to strengthen bones include: • Aredia (pamidronate) • Fosamax (alendronate) • Reclast (zoledronic acid) • Forteo (teriparatide injections [for adults only]) RANKL inhibitors (new) Gene therapy Increased vitamin D and calcium intake
  15. 15. Accompanying Health and Psychological Problems Related Health Concerns Chronic back pain Knee pain and ankle instability (rolling of the ankle) Joint pain and instability low muscle strength gastric acid reflux and chronic constipation low bone BMD, osteopenia, & osteoporosis cardiac problems include: •mitral valve prolapse (most common) •mitral valve regurgitation •aortic valve insufficiency Basilar impression (can result in respiratory failure and sudden death) Respiratory insufficiency **Respiratory failure is the most frequent cause of death for people with OI, followed by accidental trauma** Respiratory insufficiency Sleep apnea hearing loss (conductive loss generally occurs around age 20 or 30) OI can affect the shape of the lens and the strength of the coat of the eye (sclerae). • Adults with OI should consult with an ophthalmologist before using contact lenses • Also, laser lens surgery is not recommended for people with OI
  16. 16. Accompanying Health and Psychological Problems cont… Related Psychosocial Issues great need to develop strategies for coping and the family’s need for emotional support (especially during infancy) Constant awareness of their child's fragility makes routine activities a source of crisis in everyday living unexplained fractures may raise the suspicion of child abuse in the minds of hospital personnel and others as well as the parents illnesses and stressors related to the condition challenges of developing while learning how to manage their condition Individuals with milder forms of OI experience the added psychological burden of appearing normal and healthy to the casual observer despite needing to accommodate their bone fragility.
  17. 17. Course of the Condition As of today there is no cure. Life expectancy may be shortened for those with more severe symptoms. Life expectancy is not affected in people with mild or moderate symptoms. The frequency of fractures usually decreases after puberty. Later, frequency of fractures may increase again in women with the onset of menopause and in men due to age-related changes in their endocrine system.
  18. 18. Osteogenesis Imperfecta Savannah - Backus Children's Hospital video
  19. 19. Activities of Daily Living Bathing, showering, personal hygiene and grooming. Bowel and bladder management and toilet hygiene. Hard, slippery tub and shower surfaces Wearing a sling Wearing a cast, and splints Transferring in and out of tub and shower lack range of motion in the upper extremities Toilet training may be delayed when recovering from a fracture or surgery; usually from wearing a hip spica cast—a cast applied around the waist and over one or both legs. Standard potty chair or toilet may not provide enough sitting support, or may be too high off the ground. Insufficient reach and ROM of the upper extremities Transferring from wheelchair to toilet Chronic constipation
  20. 20. Dressing and personal device care Eating and feeding Avoid stretching, pushing and pulling of limbs while dressing infants. Always press on your hand rather than the baby’s body when closing the fastenings. avoid awkward positions or getting a hand or foot caught in clothing or equipment Fractures can occur when the child becomes twisted or tangled up in bedclothes, sheets or blankets. simple, easy-on clothes may be useful (such as pants with elastic waists) Clothes often need to be modified for people who are shorter, or to accommodate a cast. Adaptive equipment may be useful for donning, doffing and maintaining most personal devices. Malnutrition via low caloric intake Difficulties eating solid food due to decreased muscle strength and tongue control. decreased appetite difficulty eating swallowing due to respiratory problems or gastric reflux the presence of DI potential risk of nausea; diarrhea; and irritation, burning and scars of the esophagus, throat and stomach with oral bisphosphonates Activities of Daily Living cont…
  21. 21. Like their peers, teens with OI need information about intimacy, sexuality, and reproductive health as well as the genetics of OI. Safe sex and sexually transmitted diseases. Completely capable of having sexual satisfying lives. The decrease in the potential for fracture can be more liberating. Activities of Daily Living cont… Functional mobility Sexual activity general immobility of being confined to a wheelchair specific immobility due to recurrent fractures (more prevalent during adolescence) Some may only need assistance when they are learning a new skill or recovering from a fracture or surgery, while others will need assistance—a walker, crutches, a wheelchair, or other aids—most of the time. High potential risk of tipping and falling with mobility aids. Tendency to have flat feet (fallen arches). decreased mobility of wearing casts may cause and increases bone brittleness
  22. 22. Instrumental Activities of Daily Living Child rearing, care of pets, and care of others Communication management Most unaffected parents tend to fear that they cannot provide adequate care for the child may need many accommodations—such as adaptive equipment, home modifications, and/or support of others Considerable chance that a couple with OI who chooses to become pregnant will be raising a child with the condition; A child born into a family that already has an affected member may enter a more secure environment than a child born into a family with no history of OI. Hearing loss, vision problems, and contractures of the MCP and IP joints associated with OI can negatively impact the performance of sending, receiving, and interpreting information. May require the assistance of sound amplifiers, specialized corrective lenses, and/or hand therapy
  23. 23. Instrumental Activities of Daily Living cont… Community mobility and shopping Financial and health management and maintenance may need assistance from such devices as manual or power wheelchairs, canes, and walkers to get around in their community A short-statured adult with OI typically uses custom- designed car seat cushions and pedals. A sudden stop or traffic accident may cause injury. Some children cannot sit upright and hold their head in midline independently. An ambulette service may be used for. Power wheelchairs with a seat elevator may be beneficial to short-statured individuals for tasks such as retrieving items from higher shelves independently. Can become a very expensive condition, and the financial strain can often be a great burden. Responsibility of managing and maintaining a very strict budget can be especially difficult and stressful while dealing with such a demanding condition.
  24. 24. Instrumental Activities of Daily Living cont… Home establishment and management Meal preparation and safety and emergency maintenance Home modifications can improve quality of engagement and level of participation in household responsibilities. May need to modify room arrangements and storage of household items to promote safe independent, engagement in everyday household duties. Broad structural changes are occasionally necessary (building ramps, or lowering kitchen and bathroom surfaces). A number of accessibility problems may be tackled 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/her home, classroom, or office (ergonomics). Kitchens may be less accessible for both children and adults with OI, making it harder to prepare and/or serve food. May benefit from lowered counter tops and appliances, long-handled faucets, and adjustable shelving. Should always be aware of environment, noting any structural limitations if any. May also benefit from medical identification tags and personal alert systems that can be worn on the body in case of emergencies.
  25. 25. Rest and Sleep Sleep apnea (related respiratory problems). Fractures can occur when the child becomes twisted or tangled up in bedclothes, sheets or blankets. Children with OI are frequently affected by warm temperatures and are often bothered by excessive sweating. For comfort, bedclothes should be lightweight, absorbent and non-constricting.
  26. 26. Religious Observance OI does not directly affect participation in religious observance except that its physical limitations may hinder an individual’s ability to take part in some rituals The extent that OI can be physically debilitating as it pertains to religion depends on the severity of the condition as well as the physical demands of the religious activity being considered.
  27. 27. Education and Work May be placed on an Individualized Family Service Plan (IFSP) and/or Individualized Educational Plan (IEP) under "orthopedic impairment” to address issues such as physical education class, recess activities, ambulation, toilet transfers, and accessing sinks and water fountains. Optimum accessibility of both the learning and living facilities should be considered when choosing a college to attend. Space demands, sequencing and timing, required body functions, and required actions and performance skills may negatively impact educational employment opportunities.
  28. 28. Play and Leisure May have limited physical interactions with toys and other objects, with the environment, and with people. Play characteristics may include fear of movement, decreased active play, and preferences for sedentary activities. • Due to limited movement, limited strength, chronic pain and frequent hospitalizations. Parents may be reluctant to letting their child engage in play because of the child’s fragile state. Rather than set limitations, children should be encouraged to be independent, active, and playful. Teens and young adults may have difficulties with developing age-appropriate recreation and leisure interest’s as well as planning and participating in leisure and recreational opportunities.
  29. 29. Play and Leisure cont… Barriers to participation in leisure may include: • inadequate accessibility • cost • the need to be accompanied • fear of injury • Concern over lack of understanding about OI and Concern about lack of welcome for a person with a disability.
  30. 30. Physical disability often obscures concerns over such matters as physical appearance, sexual development and peer acceptance, concerns that the handicapped child shares with other children. The frequent use of walking aides, wheelchairs and the challenges related to driving can complicate the acquisition of friendships and relationships. Another common issue is that they frequently struggle to be treated in an age-appropriate manner because they often look and sound much younger that they are. After childhood, the problems of immobility and of social and financial dependence may continue to plague individuals severely affected with OI. A lack of easy access to public transportation and buildings could enhance the persons' physical and social isolation as well as limit their occupational and educational choices. Chronic pain, immobility, bone deformities, and hearing loss are other factors that may result in feelings of isolation and affect interactions with others. Social Participation
  31. 31. Client Factors Values, beliefs, and spirituality Body functions Having OI or having a child with OI can challenge or reinforce an individual’s beliefs and spirituality as well as have a profound impact on what is viewed as “valuable.” OI affect cardiovascular, respiratory, digestive, and musculoskeletal and movement related functions Problems with the lungs may result in some level of immunological dysfunction Sensory function affected (hearing and vision) hearing loss associated with OI may impact voice and speech function • some individuals have very high pitched voices The dermis of patients with OI is stiffer and less elastic than normal. The skin also bruises more readily and generates excessive scar tissue after healing.
  32. 32. Performance Skills Even with the mildest forms of OI, individuals endure numerous fractures throughout their lifetime that could impact the actions and behaviors they use to move and physically interact with tasks, objects, contexts, and environments. Generally speaking, the abilities demonstrated in sensory– perceptual, emotional regulation, cognitive, and communication and social performance skills are not directly affected by the condition.
  33. 33. Client Factors may cause complications with reproductive functions during pregnancy, ranging from breathlessness and discomfort to more serious problems that necessitate early hospitalization or premature delivery
  34. 34. Performance Patterns Habits such as protecting the spine by always bending, walking, and sitting in a certain, safe manner can support performance in areas of occupation while habits such as avoiding opportunities for engagement in physical activity can hinder performance in areas of occupation. The development of routines such as following the sequence of steps involved in meal preparation or to complete toileting, bathing, hygiene, and dressing will also be affected by the presence of OI Rituals that one engages in are contingent on a number of variables that may influence and be influenced by their social, cultural, and spiritual lives. Some individuals may be expected to be very dependent on others their entire lives while others may be expected to completely independent—taking on roles as employees, volunteers, advocates, wives/husbands, and mothers/fathers.
  35. 35. In the cultural context, throughout his/her life laws such as the IDEA and the ADA will determine the individual’s ability to access services to improve quality of life. In the personal context, others may often fail to recognize or acknowledge the individual’s age and education level during interaction due to the fact that individuals with OI often look and sound much younger than their actual age. In the temporal context, children with severe OI may seem significantly more mature than their same age peers due to relatively higher exposure to “real-life situations” coupled with a lack of care-free activity. Regarding social environment, individuals may be excluded from activities and interactions with their peers. Generally speaking, contexts and environments will affect an individual’s accessibility to occupations and influence the performance skills and satisfaction with performance; e.g., an individual with OI who finds it difficult to attend school because of the inaccessibility of that environment (physical) may be more successful taking distance learning courses online (virtual). Contexts
  36. 36. Conclusion The limitations of having osteogenesis imperfecta influence the level and quality of engagement in all areas of occupation. With more knowledge about this condition and its limitations, occupational therapy practitioners can better help these individuals link their specific abilities with purposeful and meaningful patterns of engagement in occupations, allowing participation in desired roles and daily life situations at home, school, work, and the community.
  37. 37. Thank You 
  38. 38. References Social and Emotional Issues of Living with OI. (2007, July 18). Retrieved from Osteogenesis Imperfecta Foundation: Firdaus Kanga. (2011, October 3). Retrieved from Wikipedia, the free encyclopedia: American Occupational Therapy Association. (2008). Occupational Therapy Practice Framework: Domain & Process 2nd Edition. American Journal of Occupational Therapy, 62, 625-683. Bochum, V. P. (2011). Ekman-Lobstein syndrome. Retrieved from Whonamedit? A dictionary of medical eponyms: Brusin, J. H. (2008). Osteogenesis Imperfecta. Radiologic Technology, 13: 535-348.
  39. 39. References Burman, T. L.-C., & Kayes, K. J. (2007). Osteogenesis Imperfecta. Clinician Reviews, 7: 47-54. Gautieri, A., Uzel, S., Vesentini, S., Redaelli, A., & Buehler, M. J. (2009). Molecular and Mesoscale Mechanisms of Osteogenesis Imperfecta Disease in Collagen Fibrils. Biophysical Journal, 857–865. doi:10.1016/j.bpj.2009.04.059 Lowenstein, E. J. (2009). Osteogenesis Imperfecta in a 3,000-Year-Old Mummy. Childs Nervous System, 2: 515–516. doi:10.1007/s00381-009-0817-7 OI Foundation, Inc. (n.d.). Therapeutic Strategies for Osteogenesis Imperfecta: A Guide for Physical Therapists and Occupational Therapists. Retrieved from Osteogenesis Imperfecta Foundation: Onyon, C., Debelle, G., & Rabb, L. (2009). Non-accidental Injury and Bone Fragility Disorders: The Need for a Multidisciplinary Perspective. Child Abuse Review, 18: 346–353. doi:10.1002/car.1086
  40. 40. References Sillence, D. M., & Ault, J. M. (2011). Osteogenesis Imperfecta: Caring for Children and Adolescents. Australia. Retrieved from Wekre, L. L., Froslie, K. F., Haugen, L., & Falch, J. A. (2010). A population-based study of demographical variables and ability to perform activities of daily living in adults with osteogenesis imperfecta. Disability and Rehabilitation, 32(7): 579–587. doi:10.3109/09638280903204690 Wilcox, R. A., & McDonald, F. S. (2007). Gray-blue sclerae and osteopenia secondary to osteogenesis imperfecta. Mayo Clinic Proceedings, 1: 265. Zack, P., DeVile, C., Clark, C., & Surtees, R. (2006). Understanding the information needs of general practitioners managing a rare genetic disorder (osteogenesis imperfecta). Community Genetics, 9:260– 267. doi:10.1159/000094475