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

Chevahlyan Dozier

DescriptionOsteogenesis Imperfecta (OI)or the more common “brittlebone disease,” is a geneticdisorder characterized besevere fragility of the bones.

BackgroundThere are 8 different types of OI Type IV can range in severity fromType I is the mildest and most relatively few fractures, as in OI Type I, to a more severe form resembling OIcommon form. Type III.Type II is the most severe form Types V, VI and VII are moderate in(usually results in death before or severity and similar in appearance andshortly after birth). symptoms to OI Type IV.Type III is considered to be themost severe type among children Type VIII can be similar to Types II or IIIwho survive the neonatal period. in appearance and symptoms.

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 OIinto 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.

EtiologyAutosomal dominant Autosomal recessiveAutosomal dominant OI (Type’s I- Autosomal recessive OI (type’s VII andVI) result from defective connective VIII) does not involve mutations in thetissue, or the inability to produce it, type 1 collagen genes.usually caused by mutations in the • Type VII results from recessive inheritance of aType I collagen genes. 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 dueAbout 90% of these mutations to mutations in the LEPRE1 gene.occur in the genes COL1A1 onchromosome 17 and COL1A2 on Spontaneous mutation is also knownchromosome 7. to occur with all types of OI.

Etiology cont…

Incidence (statistics)It is estimated that OI affects 6 to 7 per 100,000 peopleworldwide.The number of Americans affected with OI is thoughtto be 25,000 to 50,000.Type I is the mildest and most common form of thedisorder, accounting for 50% of the total OI population.Types II- VIII comprise the other 50% of the OIpopulation.

Detection Methods Single-energy X-ray AbsorptiometryCollagen studies and DNA (SXA)analysis; **however, Quantitative Computed Tomographynegative results on these (QCT)tests do not eliminate adiagnosis of OI** Quantitative Ultrasound SonographyDual-emission X-ray AmniocentesisAbsorptiometry (DXA) Chorionic Villus Sampling

Signs and Symptoms muscular and skeletal Other prominent clinical features signsbones that break easily noticeable laxity in ligaments and unusual joint flexibilityskeletal malformations of the limbs, chest, andskull particularly thin skin that is noticeably soft and smooth and prone to bruises (may resemble the atrophic skin of older people)height that ranges from shorter than average tonormal healing of wounds and surgical incisions that result in larger than normal scarsgeneral or specific muscle weakness triangular face shape dentinogenesis imperfect (DI) (noticeably brown, purple ordisproportionately short limbs opalescent and brittle teeth) sclerae (whites of the eyes) which may have a blue, purple or gray tintmultiple bone fractures (most before puberty) increased perspirationkyphosis or scoliosis (abnormal curvature of thespine)

Signs and SymptomsBlue Sclerae Scoliosis

Signs and Symptomsskeletal malformations

Signs and SymptomsDentinogenesis imperfecta

Medical Management and TreatmentsNon-surgical interventions mobility aids such as canes, walkers, or wheelchairsphysiotherapy and occupational therapy other custom-made equipment or aids for independencepositioning aids (to help sit, lie, or stand) Education (safe handling, protective positioning, safe movement, energy conservation, etc.)braces to support legs, ankles, knees andwrists (to prevent deformity and promote psychological counselingprotection)casts, splints or wraps for broken bones Possibly total body vibration in the future

Medical Management and Treatments cont… surgical interventions medications Bisphosphonate medications to strengthen bones include:rodding • Aredia (pamidronate) • Fosamax (alendronate)dental procedures • Reclast (zoledronic acid) • Forteo (teriparatide injections [for adults only])spinal fusion RANKL inhibitors (new)heart surgery Gene therapyvarious other corrective surgeries Increased vitamin D and calcium intake

Accompanying Health and Psychological Problems Related Health Concerns Basilar impression (can result in respiratory failure and sudden death) Respiratory insufficiencyChronic back pain **Respiratory failure is the most frequent cause of death for people with OI, followed by accidental trauma**Knee pain and ankle instability (rolling of the ankle) Respiratory insufficiencyJoint pain and instabilitylow muscle strength Sleep apneagastric acid reflux and chronic constipation hearing loss (conductive loss generally occurs around age 20 or 30)low bone BMD, osteopenia, & osteoporosis OI can affect the shape of the lens and the strength of the coatcardiac problems include: of the eye (sclerae). • Adults with OI should consult with an ophthalmologist before using contact• mitral valve prolapse (most common) lenses• mitral valve regurgitation • Also, laser lens surgery is not recommended for people with OI• aortic valve insufficiency

Accompanying Health andPsychological Problems cont…Related Psychosocial Issues illnesses and stressors related to thegreat need to develop strategies for conditioncoping and the family’s need foremotional support (especially duringinfancy) challenges of developing while learningConstant awareness of their childs how to manage their conditionfragility makes routine activities a sourceof crisis in everyday living Individuals with milder forms of OIunexplained fractures may raise the experience the added psychological burdensuspicion of child abuse in the minds of of appearing normal and healthy to thehospital personnel and others as well as casual observer despite needing tothe parents accommodate their bone fragility.

Course of the ConditionAs 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 ofmenopause and in men due to age-related changes in their endocrine system.

Osteogenesis Imperfecta Savannah- Backus Childrens Hospital video

Activities of Daily Living Bathing, showering, personal hygiene and Bowel and bladder management and toilet hygiene. grooming. Toilet training may be delayed when recovering from aHard, slippery tub and shower surfaces 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 enoughWearing a sling sitting support, or may be too high off the ground. Insufficient reach and ROM of the upper extremitiesWearing a cast, and splintsTransferring in and out of tub and Transferring from wheelchair to toiletshowerlack range of motion in the upper Chronic constipationextremities

Activities of Daily Living cont… Dressing and personal Eating and feeding device careAvoid stretching, pushing and pulling of limbs while Malnutrition via low caloric intakedressing infants.Always press on your hand rather than the baby’s bodywhen closing the fastenings. Difficulties eating solid food due to decreased muscle strength and tongue control.avoid awkward positions or getting a hand or footcaught in clothing or equipment decreased appetiteFractures can occur when the child becomes twisted ortangled up in bedclothes, sheets or blankets. difficulty eating swallowing due to respiratory problems orsimple, easy-on clothes may be useful (such as pants gastric refluxwith elastic waists)Clothes often need to be modified for people who areshorter, or to accommodate a cast. the presence of DIAdaptive equipment may be useful for donning, doffing potential risk of nausea; diarrhea; and irritation, burningand maintaining most personal devices. and scars of the esophagus, throat and stomach with oral bisphosphonates

Activities of Daily Living cont… Functional mobility Sexual activitygeneral immobility of being confined to a wheelchair Like their peers, teens with OI need information about intimacy, sexuality, and reproductive health as well as the geneticsspecific immobility due to recurrent fractures (more prevalent of OI.during adolescence)Some may only need assistance when they are learning a new skill orrecovering from a fracture or surgery, while others will need Safe sex and sexually transmitted diseases.assistance—a walker, crutches, a wheelchair, or other aids—most ofthe time.High potential risk of tipping and falling with mobility aids. Completely capable of having sexual satisfying lives.Tendency to have flat feet (fallen arches). The decrease in the potential for fracturedecreased mobility of wearing casts may cause and increases bone can be more liberating.brittleness

Instrumental Activities of Daily LivingChild rearing, care of pets, Communication managementand care of others Hearing loss, vision problems, and contractures of the MCP and IP jointsMost unaffected parents tend to fear that they cannotprovide adequate care for the child associated with OI can negatively impact the performance of sending, receiving, and interpreting information.may need many accommodations—such as adaptiveequipment, home modifications, and/or support of othersConsiderable chance that a couple with OI who chooses to May require the assistance of soundbecome pregnant will be raising a child with the condition; amplifiers, specialized correctiveA child born into a family that already has an affectedmember may enter a more secure environment than a lenses, and/or hand therapychild born into a family with no history of OI.

Instrumental Activities of Daily Living cont… Community mobility and Financial and health shopping management and maintenancemay need assistance from such devices as manual or powerwheelchairs, canes, and walkers to get around in theircommunityA short-statured adult with OI typically uses custom- Can become a very expensivedesigned car seat cushions and pedals. condition, and the financial strain can often be a greatA sudden stop or traffic accident may cause injury. burden.Some children cannot sit upright and hold their head inmidline independently. Responsibility of managing and maintaining a very strict budgetAn ambulette service may be used for. can be especially difficult and stressful while dealing with suchPower wheelchairs with a seat elevator may be beneficial toshort-statured individuals for tasks such as retrieving a demanding condition.items from higher shelves independently.

Instrumental Activities of Daily Living cont… Home establishment and Meal preparation and safety management and emergency maintenanceHome modifications can improve quality of engagementand level of participation in household responsibilities. Kitchens may be less accessible for both children and adults with OI, making it harder to prepare and/or serve food.May need to modify room arrangements and storage of May benefit from lowered counter tops andhousehold items to promote safe independent,engagement in everyday household duties. appliances, long-handled faucets, and adjustable shelving.Broad structural changes are occasionally necessary Should always be aware of environment,(building ramps, or lowering kitchen and bathroom noting any structural limitations if any.surfaces). May also benefit from medical identificationA number of accessibility problems may be tackled with“creative use of assistive devices, rearrangement of tags and personal alert systems that can befurniture and other equipment, and thoughtful worn on the body in case of emergencies.consideration of how the person with OI can best usehis/her home, classroom, or office (ergonomics).

Rest and SleepSleep apnea (related respiratory problems).Fractures can occur when the child becomes twisted ortangled up in bedclothes, sheets or blankets.Children with OI are frequently affected by warmtemperatures and are often bothered by excessive sweating.For comfort, bedclothes should be lightweight, absorbentand non-constricting.

Education and WorkMay be placed on an Individualized Family Service Plan (IFSP) and/orIndividualized Educational Plan (IEP) under "orthopedic impairment” toaddress 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 beconsidered when choosing a college to attend.Space demands, sequencing and timing, required body functions, andrequired actions and performance skills may negatively impact educationalemployment opportunities.

Play and LeisureMay have limited physical interactions with toys andother objects, with the environment, and with people.Play characteristics may include fear of movement,decreased active play, and preferences for sedentaryactivities.• Due to limited movement, limited strength, chronic pain and frequent hospitalizations.Parents may be reluctant to letting their child engage inplay because of the child’s fragile state.Rather than set limitations, children should beencouraged to be independent, active, and playful.Teens and young adults may have difficulties withdeveloping age-appropriate recreation and leisureinterest’s as well as planning and participating in leisureand recreational opportunities.

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.

Client Factors Body functionsValues, beliefs, andspirituality OI affect cardiovascular, respiratory, digestive, and musculoskeletal and movement related functions Problems with the lungs may result in some level of immunological dysfunction Having OI or having a Sensory function affected (hearing and vision) child with OI can challenge or reinforce hearing loss associated with OI may impact voice and speech function an individual’s beliefs • some individuals have very high pitched voices and spirituality as well as have a profound The dermis of patients with OI is stiffer and less elastic than normal. impact on what is viewed as “valuable.” The skin also bruises more readily and generates excessive scar tissue after healing.

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

Performance SkillsEven with the mildest forms of OI, individuals endurenumerous fractures throughout their lifetime that couldimpact the actions and behaviors they use to move andphysically interact with tasks, objects, contexts, andenvironments.Generally speaking, the abilities demonstrated in sensory–perceptual, emotional regulation, cognitive, andcommunication and social performance skills are notdirectly affected by the condition.

Performance PatternsHabits such as protecting the spine by always bending, walking, and sitting in a certain, safemanner can support performance in areas of occupation while habits such as avoidingopportunities 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 preparationor to complete toileting, bathing, hygiene, and dressing will also be affected by the presence of OIRituals that one engages in are contingent on a number of variables that may influence and beinfluenced by their social, cultural, and spiritual lives.Some individuals may be expected to be very dependent on others their entire lives while othersmay be expected to completely independent—taking on roles as employees, volunteers, advocates,wives/husbands, and mothers/fathers.

ContextsIn the cultural context, throughout his/her life laws such as the IDEA and the ADA will determine theindividual’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 andeducation level during interaction due to the fact that individuals with OI often look and sound muchyounger than their actual age.In the temporal context, children with severe OI may seem significantly more mature than their same agepeers 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 theirpeers.Generally speaking, contexts and environments will affect an individual’s accessibility to occupations andinﬂuence the performance skills and satisfaction with performance; e.g., an individual with OI who finds itdifficult to attend school because of the inaccessibility of that environment (physical) may be moresuccessful taking distance learning courses online (virtual).

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

by Chevahlyan Dozier on Jan 15, 2012

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