1. Osteogenesis Imperfecta Rhonda Landwehr PESS 462 Programming for Students with Disabilities (K-6)

2. General Information Group of rare genetic defects that affects the body’s production of collagen Group of rare genetic defects that affects the body’s production of collagen Collagen is main protein in connective tissue Collagen is main protein in connective tissue General Characteristics: General Characteristics: Fragile or brittle bones Fragile or brittle bones Weak muscles Weak muscles Loose ligaments Loose ligaments May also be referred to as: May also be referred to as: Brittle bone disease Ekman-Lobstein disease Fragilitas ossium OI Osteopsathyrosis Vrolik disease

3. General Information No known cause No known cause Autosomal dominant trait Autosomal dominant trait Baby has 50% chance of inheritance from either mother or father Baby has 50% chance of inheritance from either mother or father Spontaneous mutation of the collagen gene (25% of cases) Spontaneous mutation of the collagen gene (25% of cases) Affects 1 in 20,000-60,000 births Affects 1 in 20,000-60,000 births Affects males & females equally Affects males & females equally Estimates of those affected in US are unknown Estimates of those affected in US are unknown Best estimate is 20,000-50,000 Best estimate is 20,000-50,000

4. OI Types & Characteristics 4 types 4 types Type I-IV Type I-IV Recently added 3 more classifications (V-VII) Recently added 3 more classifications (V-VII) Causes unknown Causes unknown Type VI has 8 known cases Type VI has 8 known cases Type I Type I Most common & mildest form Most common & mildest form Collagen is of normal quality but is produced in insufficient quantities Collagen is of normal quality but is produced in insufficient quantities

5. OI Types & Characteristics Type I Cont. Type I Cont. Bone fractures are common during childhood & adolescence from minor trauma (fractures less frequent during adulthood) Bone fractures are common during childhood & adolescence from minor trauma (fractures less frequent during adulthood) Normal or near-normal stature Normal or near-normal stature Loose joints and muscle weakness Loose joints and muscle weakness Sclera (whites of the eyes) usually have a blue, purple, or gray tint Tendency toward spinal curvature Bone deformity absent or minimal Brittle teeth possible Hearing loss possible (early 20s or 30s) Normal life expectancy

6. OI Types & Characteristics Type II Type II Most severe form Most severe form Collagen is not of a sufficient quality or quantity Collagen is not of a sufficient quality or quantity Frequently lethal at or shortly after birth, often due to respiratory problems. Frequently lethal at or shortly after birth, often due to respiratory problems. Numerous fractures and severe bone deformity. Numerous fractures and severe bone deformity. Small stature with underdeveloped lungs. Small stature with underdeveloped lungs. Usually still-birth or dies shortly after birth Usually still-birth or dies shortly after birth

7. OI Types & Characteristics Type III ( Progressive ) Type III ( Progressive ) Collagen quantity is sufficient but is not of a high enough quality Collagen quantity is sufficient but is not of a high enough quality Bones fracture easily, sometimes even before birth Bones fracture easily, sometimes even before birth Bone deformity, often severe Bone deformity, often severe Respiratory problems possible Respiratory problems possible Short stature, spinal curvature and barrel-shaped rib cage Short stature, spinal curvature and barrel-shaped rib cage Loose joints Loose joints Poor muscle tone in arms and legs Poor muscle tone in arms and legs Discoloration of the sclera (whites of the eyes) Discoloration of the sclera (whites of the eyes) Early loss of hearing Early loss of hearing Life expectancy shorter than normal Life expectancy shorter than normal

8. OI Types & Characteristics Type IV Type IV Collagen quantity is sufficient but is not of a high enough quality Collagen quantity is sufficient but is not of a high enough quality Between Type I and Type III in severity Between Type I and Type III in severity Bones fracture easily, especially before puberty Bones fracture easily, especially before puberty Short stature, spinal curvature and barrel-shaped rib cage Short stature, spinal curvature and barrel-shaped rib cage Bone deformity is mild to moderate Bone deformity is mild to moderate Discoloration of the sclera (whites of the eyes) Discoloration of the sclera (whites of the eyes) Early loss of hearing Early loss of hearing Normal life expectancy Normal life expectancy

9. Social/Emotional Characteristics Students may experience: Students may experience: Depression Depression Feelings of inadequacy Feelings of inadequacy Low self-esteem Low self-esteem

10. Diagnosis May have biopsy or DNA tests to determine presence of OI May have biopsy or DNA tests to determine presence of OI Several weeks to get results Several weeks to get results Test detects 90% of cases Test detects 90% of cases May have prenatal tests & counseling May have prenatal tests & counseling Besides tests, doctor also diagnose by: Besides tests, doctor also diagnose by: Family history Family history Medical history Medical history Results from a physical exam Results from a physical exam X rays X rays

11. Prognosis Varies depending on number & severity of symptoms Varies depending on number & severity of symptoms Despite numerous fractures, restricted activity, and short stature, most adults and children with OI (except Type II) lead productive and successful lives Despite numerous fractures, restricted activity, and short stature, most adults and children with OI (except Type II) lead productive and successful lives Type II is lethal Type II is lethal

12. Treatment-General NO CURE NO CURE Care for broken bones & brittle teeth Care for broken bones & brittle teeth Pain medication Pain medication Physical therapy Physical therapy Use of wheelchairs, braces, and other aids Use of wheelchairs, braces, and other aids

13. Treatment-Specific Physiotherapy (or hydrotherapy) Physiotherapy (or hydrotherapy) strengthen muscles and improve mobility in a gentle manner strengthen muscles and improve mobility in a gentle manner Bisphosphonates (BPs) Bisphosphonates (BPs) increase bone mass and reduce the incidence of fracture increase bone mass and reduce the incidence of fracture Administered orally or by IV Administered orally or by IV Surgery Surgery Insert metal rods (rodding) in long bones to improve strength Insert metal rods (rodding) in long bones to improve strength

14. Pictures of People with OI

15. Programming for Students with OI Start a exercise program early Start a exercise program early Focus on improving bone mass, muscle strength, & motor skills Focus on improving bone mass, muscle strength, & motor skills UTILIZE WATER ACTIVITIES UTILIZE WATER ACTIVITIES Things to Consider: Things to Consider:  Prior facture history  Joint alignment  Exercise tolerance  Stamina  Degree of muscle weakness  Joint stiffness or laxity

16. Programming Cont. National Institute of Arthritis, Musculoskeletal, & Skin Diseases Steps for Developing a Successful Exercise Program Steps for Developing a Successful Exercise Program Determine the person’s capabilities Determine the person’s capabilities Determine the goal you want to pursue Determine the goal you want to pursue Determine the constraints or limitations to achieving the goal Determine the constraints or limitations to achieving the goal Determine which equipment or treatments are available to help accomplish the goal (bathroom safety equipment, walking aids, and devices for reaching objects in high or low places) Determine which equipment or treatments are available to help accomplish the goal (bathroom safety equipment, walking aids, and devices for reaching objects in high or low places)

17. P.E. Implications Low impact activities Low impact activities Walking Walking Swimming Swimming Water therapy Water therapy Water activities are VERY beneficial Water activities are VERY beneficial Reduces stress on body Reduces stress on body Increases aerobic conditioning Increases aerobic conditioning

18. Adaptations/Modifications Small weight & more repetitions Small weight & more repetitions Resistance cords for increasing strength Resistance cords for increasing strength Pre-workout stretches to warm-up muscles Pre-workout stretches to warm-up muscles Leg lifts to strengthen hip & leg muscles Leg lifts to strengthen hip & leg muscles DO NOT push, pull, or twist limbs DO NOT push, pull, or twist limbs Avoid passive rotation of arms, legs, heads, or trunk Avoid passive rotation of arms, legs, heads, or trunk

19. Adaptations/Modifications Refrain from contact sports Refrain from contact sports Refrain from activities where minor trauma may occur Refrain from activities where minor trauma may occur Tumbling, jumping, gymnastics, etc. Tumbling, jumping, gymnastics, etc. Adapt activities for assistive devices Adapt activities for assistive devices Provide both group & individual activities to enhance self-concept, social acceptance, and independence Provide both group & individual activities to enhance self-concept, social acceptance, and independence

20. Misc. Information Public Service Announcement from the Osteogenesis Imperfecta Foundation Public Service Announcement from the Osteogenesis Imperfecta FoundationAnnouncement Purchase Children with OI: Strategies to Enhance Performance Purchase Children with OI: Strategies to Enhance Performance A guide to fitness and exercise A guide to fitness and exercise

21. Resources Gene Reviews Gene Reviews http://www.genetests.org/servlet/access?id=8888890&db=genetests&fcn=y &dontshowglossarylinks=yes&key=ZrtOpFA0KYs5n&filename=/profiles/oi/ind ex.html http://www.genetests.org/servlet/access?id=8888890&db=genetests&fcn=y &dontshowglossarylinks=yes&key=ZrtOpFA0KYs5n&filename=/profiles/oi/ind ex.html Genetics Home Reference Genetics Home Reference http://ghr.nlm.nih.gov/condition=osteogenesisimperfecta Healthfinder Healthfinder http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=612 MedlinePlus-Osteogenesis Imperfecta MedlinePlus-Osteogenesis Imperfecta http://www.nlm.nih.gov/medlineplus/ency/article/001573.htm#visualContent National Institute of Arthritis, Musculoskeletal, & Skin Diseases National Institute of Arthritis, Musculoskeletal, & Skin Diseases http://www.niams.nih.gov/bone/hi/osteogenesis/oi_exercise.htm Osteogenesis Imperfecta Osteogenesis Imperfecta http://en.wikipedia.org/wiki/Osteogenesis_imperfecta#_note-1 The Osteogenesis Imperfecta Clinic at Kennedy Krieger Institute The Osteogenesis Imperfecta Clinic at Kennedy Krieger Institute http://www.osteogenesisimperfecta.org/ Osteogenesis Imperfecta Foundation Osteogenesis Imperfecta Foundation http://www.oif.org/site/PageServer?pagename=FastFacts Osteogenesis Imperfecta Society of Australia Osteogenesis Imperfecta Society of Australia http://www.oiaustralia.org/