Transcript Osteogenesis Imperfecta

Osteogenesis Imperfecta
Rhonda Landwehr
PESS 462
Programming for Students with
Disabilities (K-6)
General Information
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Group of rare genetic
defects that affects the
body’s production of
collagen
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Collagen is main protein
in connective tissue
General Characteristics:
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Fragile or brittle bones
Weak muscles
Loose ligaments
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May also be referred
to as:
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Brittle bone disease
Ekman-Lobstein
disease
Fragilitas ossium
OI
Osteopsathyrosis
Vrolik disease
General Information
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No known cause
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Autosomal dominant trait
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Baby has 50% chance of inheritance from either
mother or father
Spontaneous mutation of the collagen gene
(25% of cases)
Affects 1 in 20,000-60,000 births
Affects males & females equally
Estimates of those affected in US are
unknown
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Best estimate is 20,000-50,000
OI Types & Characteristics
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4 types
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Type I-IV
Recently added 3 more classifications (V-VII)
Causes unknown
 Type VI has 8 known cases
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Type I
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Most common & mildest form
Collagen is of normal quality but is
produced in insufficient quantities
OI Types & Characteristics
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Type I Cont.
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Bone fractures are
common during
childhood &
adolescence from
minor trauma
(fractures less frequent
during adulthood)
Normal or near-normal
stature
Loose joints and
muscle weakness
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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
OI Types & Characteristics
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Type II
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Most severe form
Collagen is not of a sufficient quality or
quantity
Frequently lethal at or shortly after birth,
often due to respiratory problems.
Numerous fractures and severe bone
deformity.
Small stature with underdeveloped lungs.
Usually still-birth or dies shortly after birth
OI Types & Characteristics
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Type III (Progressive)
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Collagen quantity is sufficient but is not of a high
enough quality
Bones fracture easily, sometimes even before birth
Bone deformity, often severe
Respiratory problems possible
Short stature, spinal curvature and barrel-shaped rib
cage
Loose joints
Poor muscle tone in arms and legs
Discoloration of the sclera (whites of the eyes)
Early loss of hearing
Life expectancy shorter than normal
OI Types & Characteristics
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Type IV
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Collagen quantity is sufficient but is not of a
high enough quality
Between Type I and Type III in severity
Bones fracture easily, especially before puberty
Short stature, spinal curvature and barrel-shaped rib
cage
Bone deformity is mild to moderate
Discoloration of the sclera (whites of the eyes)
Early loss of hearing
Normal life expectancy
Social/Emotional Characteristics
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Students may experience:
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Depression
Feelings of inadequacy
Low self-esteem
Diagnosis
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May have biopsy or DNA tests to
determine presence of OI
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Several weeks to get results
Test detects 90% of cases
May have prenatal tests & counseling
Besides tests, doctor also diagnose by:
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Family history
Medical history
Results from a physical exam
X rays
Prognosis
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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
Type II is lethal
Treatment-General
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NO CURE
Care for broken bones & brittle teeth
Pain medication
Physical therapy
Use of wheelchairs, braces, and other aids
Treatment-Specific
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Physiotherapy (or hydrotherapy)
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Bisphosphonates (BPs)
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strengthen muscles and improve mobility in a
gentle manner
increase bone mass and reduce the incidence
of fracture
Administered orally or by IV
Surgery
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Insert metal rods (rodding) in long bones to
improve strength
Pictures of People with OI
Programming for Students with OI
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Start a exercise program early
Focus on improving bone mass, muscle
strength, & motor skills
UTILIZE WATER ACTIVITIES
Things to Consider:
Prior
facture history
Joint alignment
Exercise tolerance
Stamina
Degree
of muscle
weakness
Joint stiffness or laxity
Programming Cont.
National Institute of Arthritis, Musculoskeletal, & Skin Diseases
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Steps for Developing a Successful Exercise
Program
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Determine the person’s capabilities
Determine the goal you want to pursue
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)
P.E. Implications
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Low impact activities
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Walking
Swimming
Water therapy
Water activities are VERY beneficial
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Reduces stress on body
Increases aerobic conditioning
Adaptations/Modifications
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Small weight & more repetitions
Resistance cords for increasing strength
Pre-workout stretches to warm-up muscles
Leg lifts to strengthen hip & leg muscles
DO NOT push, pull, or twist limbs
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Avoid passive rotation of arms, legs, heads, or
trunk
Adaptations/Modifications
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Refrain from contact sports
Refrain from activities where minor trauma
may occur
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Tumbling, jumping, gymnastics, etc.
Adapt activities for assistive devices
Provide both group & individual activities
to enhance self-concept, social
acceptance, and independence
Misc. Information
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Public Service Announcement
from the Osteogenesis
Imperfecta Foundation
Purchase Children with OI:
Strategies to Enhance
Performance
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A guide to fitness and exercise
Resources
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Gene Reviews
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
http://ghr.nlm.nih.gov/condition=osteogenesisimperfecta
Healthfinder
http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=612
MedlinePlus-Osteogenesis Imperfecta
http://www.nlm.nih.gov/medlineplus/ency/article/001573.htm#visualContent
National Institute of Arthritis, Musculoskeletal, & Skin Diseases
http://www.niams.nih.gov/bone/hi/osteogenesis/oi_exercise.htm
Osteogenesis Imperfecta
http://en.wikipedia.org/wiki/Osteogenesis_imperfecta#_note-1
The Osteogenesis Imperfecta Clinic at Kennedy Krieger Institute
http://www.osteogenesisimperfecta.org/
Osteogenesis Imperfecta Foundation
http://www.oif.org/site/PageServer?pagename=FastFacts
Osteogenesis Imperfecta Society of Australia
http://www.oiaustralia.org/