Osteogenesis Imperfecta: Difference between revisions

No edit summary
No edit summary
 
(18 intermediate revisions by 5 users not shown)
Line 5: Line 5:
</div>  
</div>  
== Introduction ==
== Introduction ==
[[File:1024px-X ray for osteogenesis imperfecta.jpeg|right|frameless]]
[[File:1024px-X ray for osteogenesis imperfecta.jpeg|alt=|Figure 1. X-ray of osteogenesis imperfecta.|thumb]]
Osteogenesis imperfecta (OI) refers to a heterogeneous group of [[Congenital and Acquired Neuromuscular and Genetic Disorders|congenital]], non-sex-linked, [[Genetic Disorders|genetic disorders]] of [[collagen]] type I production, involving [[Connective Tissue Disorders|connective tissues]] and [[Bone|bones]].  
Osteogenesis imperfecta (OI) is a "heterogeneous group of [[Congenital and Acquired Neuromuscular and Genetic Disorders|congenital]], non-sex-linked, [[Genetic Disorders|genetic disorders]]".<ref name=":0" /> It  affects the production or processing of type 1 collagen, and therefore, impacts [[Connective Tissue Disorders|connective tissue]] and [[bone]].<ref name=":0" /><ref name=":2">Subramanian S. StatPearls Publishing LLC.; Treasure Island, FL, USA: 2021. Osteogenesis Imperfecta.</ref> 


The hallmark feature of OI is [[osteoporosis]] and fragile bones that [[fracture]] easily, as well as, blue sclera, dental fragility and hearing loss<ref name=":0">Osteogenesisi Imperfecta. Available from: https://radiopaedia.org/articles/osteogenesis-imperfecta-1 (Accessed, 15/10/ 2021).</ref>. These features result in reduced mobility and function to complete everyday tasks.  
It is also referred to as "brittle bone disease". Individuals with OI are susceptible to fractures and reduced bone density.<ref name=":2" /> They may present with [[osteoporosis]] and blue sclera (i.e. the white part of the eye), and their teeth and hearing can be affected.<ref name=":0">Osteogenesisi Imperfecta. Available from: https://radiopaedia.org/articles/osteogenesis-imperfecta-1 (Accessed, 15/10/ 2021).</ref> It can also impact mobility and an individual's ability to perform activities of daily living.  
 
OI affects not only the physical but also the social and emotional well-being of children, young people, and their families. The coordinated efforts of a multidisciplinary team can support children with OI to fulfill their potential, maximizing function, independence, and well-being.<ref>Marr C, Seasman A, Bishop N. Managing the patient with osteogenesis imperfecta: a multidisciplinary approach. Journal of multidisciplinary healthcare. 2017; 10:145.</ref>
 
'''Image 1:''' '''X ray for osteogenesis imperfecta'''
 
== Types of OI ==
[[Image:Sean.jpg|This image of Sean Stephenson is included courtesy of http://26.media.tumblr.com.|alt=|right|frameless]]
Three main types are easily distinguished
 
* Type I. Mildest and most common type. About 50% of all affected children have this type. There are few fractures and deformities
* Type II. Most severe type. A baby has very short arms and legs, a small chest, and soft skull. He or she may be born with fractured bones. He or she may also have a low birth weight and lungs that are not well developed. A baby with type II OI usually dies within weeks of birth
* Type III. Most severe type in babies who don’t die as newborns '''See image 2'''. At birth, a baby may have slightly shorter arms and legs than normal and arm, leg, and [[Rib Fracture|rib fractures]]. A baby may also have a larger than normal head, a triangle-shaped face, a deformed chest and spine, and breathing and swallowing problems. These symptoms are different in each baby<ref name=":1">Osteogenesis Imperfecta. Available from: https://www.hopkinsmedicine.org/health/conditions-and-diseases/osteogenesis-imperfecta (Accessed, 15/10/2021).
 
</ref>.
 
Types IV to VIII are variable in severity and uncommon<ref name=":0" />


OI can have a negative effect on the social and emotional well-being of young people with this condition and their families. Adopting a coordinated, [[Multidisciplinary Team|multidisciplinary team]] approach helps to ensure that children with OI can "fulfill their potential, maximizing function, independence, and well-being."<ref>Marr C, Seasman A, Bishop N. Managing the patient with osteogenesis imperfecta: a multidisciplinary approach. Journal of multidisciplinary healthcare. 2017; 10:145.</ref>
== Epidemiology ==
== Epidemiology ==
[[Image:Lg wyse family.jpg|This picture of the Wyse family is included courtesy of the Agape Family Life House website agapeflh.org.|alt=|right|frameless|200x200px]]The estimated incidence is approximately 1 in every 12,000-15,000 births. OI occurs with equal frequency among males and females and across races and ethnic groups. The lifespan varies with the type. <ref name=":0" />
OI is a rare condition. The estimated incidence is approximately 1 in every 15,000 to 20,000 births.<ref name=":2" /> It affects males and females equally, and there are no differences in terms of race / ethnic group.<ref name=":0" />


'''Image 2: Twins with OI'''
== Aetiology ==
 
OI usually occurs secondary to mutations in the ''COL1A1'' and ''COL1A2'' genes, but there have been diverse mutations related to OI identified more recently.<ref name=":2" />
== Etiology ==
OI is a rare genetic disease. In the majority of cases, it occurs secondary to mutations in the ''COL1A1'' and ''COL1A2'' genes. More recently, there has been the identification of diverse mutations related to OI.<ref name=":2">Subramanian S. StatPearls Publishing LLC.; Treasure Island, FL, USA: 2021. Osteogenesis Imperfecta.</ref>


== Pathology ==
== Pathology ==
A fundamental pathology in OI is a disturbance in the synthesis of type I collagen, which is the predominant protein of the extracellular matrix of most tissues. In bone, this defect results in osteoporosis, thus increasing the tendency to fracture. Besides bone, type I collagen is also a major constituent of dentine, sclerae, [[Ligament|ligaments]], blood vessels and [[skin]].<ref name=":0" />
In OI, the synthesis of type I collagen is affected. Type I collagen forms the main protein of the extracellular matrix of many of our tissues, including our skin, bones, tendons, skin and sclerae.<ref name=":0" /><ref name=":2" />
 
== Clinical presentation ==
== Clinical presentation ==
[[Image:X-ray OI.jpg|This picture is included courtesy of gghjournal.com.|alt=|right|frameless]]The clinical presentation of osteogenesis imperfecta is highly variable, ranging from a mild form with no deformity, normal stature and few fractures to a form that is lethal during the perinatal period.  
[[Image:X-ray OI.jpg|Image of OI X-ray. This picture is included courtesy of gghjournal.com.|alt=|thumb]]There are four major clinical features that characterise OI, but each individual's presentation varies depending on their type of OI.<ref name=":0" /><ref name=":1" />


In general, four major clinical features characterise osteogenesis imperfecta:
# Osteoporosis / bone fragility
#* fractures
#* bone deformities
# Discoloration of the sclera (white of the eye)
#* may be blue or gray in colour
# Dentinogenesis imperfecta
#* discolouration of teeth (e.g. blue-gray / yellow-brown colour)
#* translucent and weakened teeth
#* can affect baby and adult teeth<ref>Dentiogenesis Imperfecta. Available from: https://medlineplus.gov/genetics/condition/dentinogenesis-imperfecta/ (Accessed, 15/10/2021).</ref>
# Hearing impairments


# Osteoporosis with abnormal bone fragility '''Image 4: X-ray OI''' eg Easily broken bones, Bone deformities, such as bowing of the legs, A barrel-shaped chest, A curved spine, A triangle-shaped face<ref name=":1" />
OI can also cause laxity of ligamentous, joint [[Hypermobility Syndrome|hypermobility]], short stature and individuals are prone to bruising.<ref name=":0" />
# Discoloration of the white of the eye (sclera), may be blue or gray in color
== Types of OI ==
# Dentinogenesis imperfecta, a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and permanent teeth<ref>Dentiogenesis Imperfecta. Available from: https://medlineplus.gov/genetics/condition/dentinogenesis-imperfecta/ (Accessed, 15/10/2021).</ref>.
There are at least eight different types of OI, but three types are said to be easily distinguished.<ref name=":0" />
# Hearing impairment


Other features include ligamentous laxity and [[Hypermobility Syndrome|hypermobility]] of joints, short stature and easy bruising.<ref name=":0" />
* Type I:<ref name=":1" />
** The most common and mildest type of OI
** Around 50% of children with OI have Type 1 OI
** Individuals have few fractures / deformities
** Have half the amount of normal collagen
** Blue sclera
** Generalised osteoporosis
** Joint hyperlaxity
** Conductive hearing loss
** Dentinogenesis imperfecta<ref name=":4">Eskay, K. Paediatric Conditions: Down Syndrome, Duchenne Muscular Dystrophy, Osteogenesis Imperfecta and Arthrogryposis Multiplex Congenita. Plus. 2023</ref>
* Type II:<ref name=":1" /><ref name=":2" />
** The most severe type of OI - it is a lethal condition, usually within weeks of birth
** Causes severe disruption of the "qualitative function" of the collagen molecule<ref name=":2" />
** Infants with Type II OI present with very short arms and legs, small chest and they have delayed ossification of the skull
** There may be fractures at birth, low birth weight and under-developed lungs
* Type III:<ref name=":1" />
** Children who have severe clinical signs tend to have Type III OI
** They tend to present with moderate to severe fragility of bones, coxa vera, they may have slightly shorter arms and legs, and have arm, leg, and rib fractures
** Infants may have a larger head, a triangular-shaped face, changes in their chest and spine (scoliosis), and difficulties with breathing and swallowing
** May also have frontal bossing (i.e. prominent forehead), basilar invagination, short stature
** Symptoms vary in each infant<ref name=":1">Osteogenesis Imperfecta. Available from: https://www.hopkinsmedicine.org/health/conditions-and-diseases/osteogenesis-imperfecta (Accessed,  15/10/2021).
</ref>


* Types IV to VIII are not common and vary in terms of their severity<ref name=":0" />
** Shorter in statue
** Frequent fractures that decrease after puberty
** Mild to moderate bone deformity
** Average life expectancy<ref name=":4" />
== Diagnosis ==
== Diagnosis ==
The baby's healthcare provider or the specialists may recommend the following diagnostic tests:
The following diagnostic tests may be recommended:<ref name=":1" />
 
# [[X-Rays|X-rays]]. These may show many changes such as weak or deformed bones and fractures.
# [[Laboratory Tests|Lab tests]]. Blood, saliva, and skin may be checked. The tests may include gene testing.
# Dual Energy X-ray Absorptiometry scan (DXA or DEXA scan). To check for softening.
# Bone biopsy. A sample of the hipbone is checked<ref name=":1" />.
 
== Treatment ==
The main goal of treatment is to prevent deformities and fractures. And, once your child gets older, to allow him or her to function as independently as possible.
 
Management options include:
 
* Surgical correction of deformities and the prevention of fractures
** intramedullary rods with osteotomy are used to correct severe bowing of the long bones
** intramedullary rods are also recommended for children who repeatedly fracture long bones
** different types of rods (surgical nails) are available to address issues related to surgery, bone size, and the prospect for growth; the two major categories of rods are telescopic and non-telescopic.


* Care of fractures. The lightest possible materials are used to cast fractured bones. To prevent further problems, it is recommended that a child begin moving or using the affected area as soon as possible.
# [[X-Rays|X-rays]]: able to show weakened / deformed bones,  fractures
* Bisphosphonates
# [[Laboratory Tests|Lab tests]]: including blood, saliva, skin and gene testing
* Growth hormone therapy<ref name=":0" />
# Dual Energy X-ray Absorptiometry scan (DXA or DEXA scan): to investigate softening of bone
* Dental procedures. Treatments, including capping teeth, braces, and surgery may be needed.
# Bone biopsy (taken at the hip)
* Physical and occupational therapy. Both are very important in babies and children with OI.
* [[Assistive Devices|Assistive devices]]. [[Wheelchair Assessment|Wheelchairs]] and other custom-made equipment may be needed as babies get older<ref name=":1" />.


== Prognosis ==
== Prognosis ==
Varied across the diverse spectrum of the disease.  
Prognosis is variable depending on the type of OI.<ref name=":2" />


# Age of onset of long bone fractures has been demonstrated as an important prognostic indicator for ambulatory ability.
# Age of onset of long bone fractures is a prognostic indicator for ambulatory ability.
# Survival: The most significant indicators include the location of fractures, the severity of fractures and general radiographic appearance of the skeleton.
# Survival: Location and severity of fractures, and appearance of the skeleton on radiography are significant indicators for survival.
# Engelbert et al. demonstrated that: children who achieved independent sitting or standing or both by 12 years of age, were finally able to ambulate; children who could achieve independent sitting or standing, or both, by the age of 12 months were likely to be able to walk<ref name=":2" />  
# The type of OI is the most important clinical indicator for ability to ambulate. Early achievement of motor milestones is associated with the ability to walk independently when the type of OI is not known.<ref>Engelbert RH, Uiterwaal CS, Gulmans VA, Pruijs H, Helders PJ. Osteogenesis imperfecta in childhood: prognosis for walking. J Pediatr. 2000 Sep;137(3):397-402.</ref>


== Complications ==
== Complications ==
Complications may affect most body systems in a baby or child with OI. The risk of developing complications depends on the type and severity of your baby's OI. Complications may include the following:
Complications associated with OI vary depending on the type of OI, but they can affect most body systems. They may include the following:<ref name=":2" /><ref name=":1" />


* Respiratory infections, eg [[COVID-19|COVID 19]], [[pneumonia]]
* Respiratory infections eg. [[COVID-19|COVID 19]], [[pneumonia]]
* Heart problems eg poor [[Cardiac Valve Defects|cardiac valve defects]]
* Cardiac issues eg. [[Cardiac Valve Defects|cardiac valve defects]]
* [[Nephrolithiasis (Kidney Stones)|Kidney stones]]
* [[Nephrolithiasis (Kidney Stones)|Kidney stones]]
* Joint problems
* Tumour (osteogenic sarcoma)
* Hearing loss
* Joint conditions
* Basilar invagination
* Eye conditions and vision loss
* Eye conditions and vision loss
* Malignant hyperthermia


== Team Approach ==
== Treatment ==
Physical and occupational therapy are part of an interdisciplinary approach to treatment. The medical team may also include a primary care physician, orthopedist, geneticist, nutritionist, social worker, and psychologist. Children and adults with OI, especially those with spine curves which may affect pulmonary status, may regularly see a pulmonologist. Ideally planning ahead for rehabilitation is included in the preparation for surgery. <ref name=":3">OI foundation [https://oif.org/wp-content/uploads/2019/08/PT_guide_final.pdf Physical and Occupational Therapists Guide to Treating Osteogenesis Imperfecta] Available:https://oif.org/wp-content/uploads/2019/08/PT_guide_final.pdf (accessed 15.10.2021)</ref>
Treatment focuses on the prevention of deformities and fractures and the maintenance of independence.<ref name=":1" />
=== Team Approach ===
OI should be managed with an interdisciplinary team that may include primary care physician, orthopedist, geneticist, nutritionist, social worker, and psychologist, physiotherapists, occupational therapists. Pulmonologists may be involved in the care of individuals who have scoliosis that impacts pulmonary function.<ref name=":3">OI foundation [https://oif.org/wp-content/uploads/2019/08/PT_guide_final.pdf Physical and Occupational Therapists Guide to Treating Osteogenesis Imperfecta] Available:https://oif.org/wp-content/uploads/2019/08/PT_guide_final.pdf (accessed 15.10.2021)</ref>


== Physiotherapy ==
Management options include:<ref name=":0" /><ref name=":1" />
When working with individuals and families living with OI, therapists should keep these principles in mind: ƒ


* Listen. It is essential to listen to individuals with OI and their families and respect their input.
* surgery to help prevent fractures and to correct deformities (including intramedullary rods with osteotomy)


* Set Goals. Make goals incremental, realistic and achievable. ƒ
* fracture care - casts tend to be made from the lightest material possible, movement of the affected area is encouraged as soon as possible
* Fear of Fractures is another serious constraint to movement. Establishing safe movement procedures, encouraging self-confidence and optimizing strength are strategies that can help resolve this issue. Passive range of motion is not recommended with new clients. ƒ
* bisphosphonates to strengthen bones and prevent fractures where possible
* Expect Success. With the proper environment and equipment, the majority of children and adults with OI can function well in many or most areas of daily life including but not limited to self-care, school and work.
*[[The influence of human growth hormone (HGH) on physiologic processes and exercise|growth hormone]] therapy<ref name=":0" />
* treatment for dental issues - including capping teeth, braces, etc
*[[Assistive Devices|assistive devices]]<ref name=":1" />


Maximizing a person’s strength and function not only improves overall health and wellbeing, but also improves bone health, as mechanical stresses and muscle tension on bone help increase bone density. eg, deformities such as a flattened skull, a lordotic back, or tight hip flexor muscles can be prevented or minimized through therapy.
== Rehabilitation ==
Therapists should remember the following when working with individuals with OI and their families:<ref name=":3" />


Approaches include:
* Listen and respect individuals with OI and their families.


# [[Therapeutic Exercise|Exercise]] and recreational activities including [[weight bearing]] activities (braces may be needed), and low-impact activities such as [[Aquatherapy|swimming]], once precautions are defined.
* Set goals that are realistic, achievable, and incremental.
# Safe handling and encouraging different body positions and postures during the day to [[Strength Training|strengthen]] muscle groups and prevent deformities.
* Weakness affects movements in OI - individuals with OI do not tend to have other neurological issues such as impaired coordination, sensation or cognition.
# Adaptive equipment. The individual with OI may need a variety of [[Walking Aids|mobility aides]] depending on the environment ([[Canes|cane]], [[Walkers|walker]], manual or power [[Wheelchair Fitting|wheelchair]]).
* Individuals with OI may be fearful of fractures and this can significantly impact movement. It can be useful to:
# Environmental adaptations to the home, school or workplace.
** establish safe movement patterns
'''Circumstances requiring intermittent or long-term physical therapy:'''
** encourage self-confidence
# When a child with OI has delays or weakness in motor skills
** optimise strength
# When a child or adult with OI is recovering from a fracture, surgery or injury
* Expect success - with the appropriate environment and equipment, most individuals with OI can perform most activities of daily living, including self-care, school and work.
# When a person with OI experiences fear of movement and trying new skills and activities.
# When a person with OI reaches a transition point in life, they must adapt to a new environment or require ADL training.<ref name=":3" /> 
'''Key Principles of Therapeutic Strategies'''


Patience and task analysis are both necessary to develop a successful therapy program. Developmental concepts and specific skills need to be analyzed closely, so that many small improvements can lead to achieving a particular therapy goal.  
Enhancing strength and function is essential for health and wellbeing and bone health. Rehabilitation approaches include:<ref name=":3" /> 


'''Key therapeutic strategies include the following''':
# [[Therapeutic Exercise|Exercise]], including [[weight bearing]] activities (braces may be needed)
 
# Low-impact activities such as [[Aquatherapy|swimming]] (precautions must be defined)
1. Skill Progression - before learning personal care skills, a child must first develop gross [[Motor Control and Learning|motor skills]] eg reaching and sitting, which may be delayed or difficult for those with moderate to severe OI; Adults may need to relearn a series of skills after a serious injury.
# Care with safe handling and encouraging changes in body positions / postures throughout the day to help strengthen muscles / prevent deformities
 
# Prescribing appropriate adaptive equipment (e.g. [[Canes|cane]], [[Walkers|walker]], manual or power [[Wheelchair Fitting|wheelchair]]).
2. Protective handling, preventive positioning, and active movement with gradual progression (contribute to safe development of motor skills).
# Adapting the environment as needed (e.g. at work, home, school)
 
Individuals with OI might require intermittent or long-term rehabilitation for the following reasons:
3. Water therapy - provides the opportunity for children with OI to develop skills in a reduced gravity environment before trying them on land. Adults often use water therapy to relearn or maintain motor skills. Water is a great place to start getting past the fear of movement.
# They have delays or weakness in motor skills
# They have had a fracture, surgery or injury
# They are experiencing fear of movement and are trying new skills and activities
# They are transitioning to a new stage of life etc, and need to get used to a new environment or train for a specific activity of daily living<ref name=":3" />
'''Key Principles of Therapeutic Strategies'''


4. Equipment - ranging from simple [[Cushions|pillows]] to specialized wheelchairs, can help children and adults achieve motor and personal care goals even if they have weakness or are recovering from a fracture.
When designing a rehabilitation programme for OI, it is necessary to engage in an appropriate task analysis. The following are useful points to consider:<ref name=":3" />


5. Encouraging healthy living is an important part of the therapeutic relationship. Promoting general health, preventing [[obesity]], and encouraging participation in recreational activities are important elements of achieving the goal of a lifestyle of wellness and greater independence.  
* Skill progression - develop and progress gross motor skills (reaching, sitting etc) if they are delayed / difficult, particularly for individuals with severe OI. Skills may need to be retrained in adults after injury. 
* Using preventive positioning, protective handling and active movement with gradual progression can help to facilitate motor skill development safely.
* Hydrotherapy can be useful for motor skill development and for individuals with fear of movement. 
* It is vital to ensure that an individual has appropriate equipment and assistive devices.
* Encourage healthy living to promote general health.  


== Children of Glass ==
== Children of Glass ==
Excerpts from the Discovery Health documentary on the genetic brittle bone disorder "Osteogenesis Imperfecta",  courtesy of Youtube.com.
The following videos include excerpts from the Discovery Health documentary on the genetic brittle bone disorder "Osteogenesis Imperfecta" .
<div class="row">
<div class="row">
   <div class="col-md-6"> {{#ev:youtube|TpAMTOud3bw|300}} <div class="text-right"><ref>Bublitz Videos. Children of Glass - (Part 1 of 4). Available from: http://www.youtube.com/watch?v=TpAMTOud3bw [last accessed 27/8/2020]</ref></div></div>
   <div class="col-md-6"> {{#ev:youtube|TpAMTOud3bw|300}} <div class="text-right"><ref>Bublitz Videos. Children of Glass - (Part 1 of 4). Available from: http://www.youtube.com/watch?v=TpAMTOud3bw [last accessed 27/8/2020]</ref></div></div>
Line 142: Line 152:
   <div class="col-md-6"> {{#ev:youtube|QvbY7XqyMz8|300}} <div class="text-right"><ref>Bublitz Videos. Children of Glass - (Part 4 of 4). Available from: http://www.youtube.com/watch?v=QvbY7XqyMz8 [last accessed 27/8/2020]</ref></div></div>
   <div class="col-md-6"> {{#ev:youtube|QvbY7XqyMz8|300}} <div class="text-right"><ref>Bublitz Videos. Children of Glass - (Part 4 of 4). Available from: http://www.youtube.com/watch?v=QvbY7XqyMz8 [last accessed 27/8/2020]</ref></div></div>
</div>
</div>
     
==Diagnosis==
*[http://www.seibertdc.com/Content-2/Case+Study.html Yochum TR, Kulbaba S, Seibert RE. Osteogenesis Imperfecta in a Weightlifter. Journal of Manipulative and Physiological Therapeutics; 25: 334-339. 2002.]<br>
*[http://www.cfp.ca/cgi/reprint/51/12/1655 Strevel EL, Adachi JD, Papaioannou A, McNamara M. Case Report: Osteogenesis Imperfecta Elusive Cause of Fractures. Canadian Family Physician; 51: 1655-1657.2005.]<br>
*[http://www.kjm.keio.ac.jp/past/53/4/251.pdf Iwamoto J, Takeda T, Sato Y. Effect of Treatment With Alendronate in Osteogenesis Imperfecta Type I: A Case Report. The Keio Journal of Medicine; 53 (4): 251–255. 2004.]<br>
*[http://www.atcs.jp/pdf/2002_8_1/51.pdf Aoki T, Kuraoka S, Ohtani S, Kuroda Y. Aortic Valve Replacement in a Woman with Osteogenesis Imperfecta. Annals of Thoracic and Cardiovascular Surgery; 8(1): 51-53. 2002.]
== Resources ==
== Resources ==


* [https://oif.org/wp-content/uploads/2019/08/PT_guide_final.pdf Physical and Occupational Therapists Guide to Treating Osteogenesis Imperfecta]
* [https://oif.org/wp-content/uploads/2019/08/PT_guide_final.pdf Physical and Occupational Therapists Guide to Treating Osteogenesis Imperfecta]
*http://www.oif.org
*http://www.genome.gov/25521839
*http://www.osteogenesisimperfecta.org
*http://www.nlm.nih.gov/medlineplus/osteogenesisimperfecta.html
*http://ghr.nlm.nih.gov/condition=osteogenesisimperfecta
*http://www.brittlebone.org<br>


==References==
==References==
Line 168: Line 162:
[[Category:Paediatrics]]
[[Category:Paediatrics]]
[[Category:Paediatrics - Conditions]]
[[Category:Paediatrics - Conditions]]
[[Category:Genetic Disorders]]
[[Category:Course Pages]]

Latest revision as of 11:20, 25 April 2023

Genetic_DisordersOriginal Editors - Barrett Mattingly from Bellarmine University's Pathophysiology of Complex Patient Problems project.

Top Contributors - Barrett Mattingly, Lucinda hampton, Jess Bell, Admin, Uchechukwu Chukwuemeka, Robin Tacchetti, Kim Jackson, Kirenga Bamurange Liliane, Dave Pariser, WikiSysop, Meaghan Rieke, Anna Fuhrmann, 127.0.0.1, Heidi Johnson Eigsti, Elaine Lonnemann and Wendy Walker  

Introduction[edit | edit source]

Figure 1. X-ray of osteogenesis imperfecta.

Osteogenesis imperfecta (OI) is a "heterogeneous group of congenital, non-sex-linked, genetic disorders".[1] It affects the production or processing of type 1 collagen, and therefore, impacts connective tissue and bone.[1][2]

It is also referred to as "brittle bone disease". Individuals with OI are susceptible to fractures and reduced bone density.[2] They may present with osteoporosis and blue sclera (i.e. the white part of the eye), and their teeth and hearing can be affected.[1] It can also impact mobility and an individual's ability to perform activities of daily living.

OI can have a negative effect on the social and emotional well-being of young people with this condition and their families. Adopting a coordinated, multidisciplinary team approach helps to ensure that children with OI can "fulfill their potential, maximizing function, independence, and well-being."[3]

Epidemiology[edit | edit source]

OI is a rare condition. The estimated incidence is approximately 1 in every 15,000 to 20,000 births.[2] It affects males and females equally, and there are no differences in terms of race / ethnic group.[1]

Aetiology[edit | edit source]

OI usually occurs secondary to mutations in the COL1A1 and COL1A2 genes, but there have been diverse mutations related to OI identified more recently.[2]

Pathology[edit | edit source]

In OI, the synthesis of type I collagen is affected. Type I collagen forms the main protein of the extracellular matrix of many of our tissues, including our skin, bones, tendons, skin and sclerae.[1][2]

Clinical presentation[edit | edit source]

Image of OI X-ray. This picture is included courtesy of gghjournal.com.

There are four major clinical features that characterise OI, but each individual's presentation varies depending on their type of OI.[1][4]

  1. Osteoporosis / bone fragility
    • fractures
    • bone deformities
  2. Discoloration of the sclera (white of the eye)
    • may be blue or gray in colour
  3. Dentinogenesis imperfecta
    • discolouration of teeth (e.g. blue-gray / yellow-brown colour)
    • translucent and weakened teeth
    • can affect baby and adult teeth[5]
  4. Hearing impairments

OI can also cause laxity of ligamentous, joint hypermobility, short stature and individuals are prone to bruising.[1]

Types of OI[edit | edit source]

There are at least eight different types of OI, but three types are said to be easily distinguished.[1]

  • Type I:[4]
    • The most common and mildest type of OI
    • Around 50% of children with OI have Type 1 OI
    • Individuals have few fractures / deformities
    • Have half the amount of normal collagen
    • Blue sclera
    • Generalised osteoporosis
    • Joint hyperlaxity
    • Conductive hearing loss
    • Dentinogenesis imperfecta[6]
  • Type II:[4][2]
    • The most severe type of OI - it is a lethal condition, usually within weeks of birth
    • Causes severe disruption of the "qualitative function" of the collagen molecule[2]
    • Infants with Type II OI present with very short arms and legs, small chest and they have delayed ossification of the skull
    • There may be fractures at birth, low birth weight and under-developed lungs
  • Type III:[4]
    • Children who have severe clinical signs tend to have Type III OI
    • They tend to present with moderate to severe fragility of bones, coxa vera, they may have slightly shorter arms and legs, and have arm, leg, and rib fractures
    • Infants may have a larger head, a triangular-shaped face, changes in their chest and spine (scoliosis), and difficulties with breathing and swallowing
    • May also have frontal bossing (i.e. prominent forehead), basilar invagination, short stature
    • Symptoms vary in each infant[4]
  • Types IV to VIII are not common and vary in terms of their severity[1]
    • Shorter in statue
    • Frequent fractures that decrease after puberty
    • Mild to moderate bone deformity
    • Average life expectancy[6]

Diagnosis[edit | edit source]

The following diagnostic tests may be recommended:[4]

  1. X-rays: able to show weakened / deformed bones, fractures
  2. Lab tests: including blood, saliva, skin and gene testing
  3. Dual Energy X-ray Absorptiometry scan (DXA or DEXA scan): to investigate softening of bone
  4. Bone biopsy (taken at the hip)

Prognosis[edit | edit source]

Prognosis is variable depending on the type of OI.[2]

  1. Age of onset of long bone fractures is a prognostic indicator for ambulatory ability.
  2. Survival: Location and severity of fractures, and appearance of the skeleton on radiography are significant indicators for survival.
  3. The type of OI is the most important clinical indicator for ability to ambulate. Early achievement of motor milestones is associated with the ability to walk independently when the type of OI is not known.[7]

Complications[edit | edit source]

Complications associated with OI vary depending on the type of OI, but they can affect most body systems. They may include the following:[2][4]

Treatment[edit | edit source]

Treatment focuses on the prevention of deformities and fractures and the maintenance of independence.[4]

Team Approach[edit | edit source]

OI should be managed with an interdisciplinary team that may include primary care physician, orthopedist, geneticist, nutritionist, social worker, and psychologist, physiotherapists, occupational therapists. Pulmonologists may be involved in the care of individuals who have scoliosis that impacts pulmonary function.[8]

Management options include:[1][4]

  • surgery to help prevent fractures and to correct deformities (including intramedullary rods with osteotomy)
  • fracture care - casts tend to be made from the lightest material possible, movement of the affected area is encouraged as soon as possible
  • bisphosphonates to strengthen bones and prevent fractures where possible
  • growth hormone therapy[1]
  • treatment for dental issues - including capping teeth, braces, etc
  • assistive devices[4]

Rehabilitation[edit | edit source]

Therapists should remember the following when working with individuals with OI and their families:[8]

  • Listen and respect individuals with OI and their families.
  • Set goals that are realistic, achievable, and incremental.
  • Weakness affects movements in OI - individuals with OI do not tend to have other neurological issues such as impaired coordination, sensation or cognition.
  • Individuals with OI may be fearful of fractures and this can significantly impact movement. It can be useful to:
    • establish safe movement patterns
    • encourage self-confidence
    • optimise strength
  • Expect success - with the appropriate environment and equipment, most individuals with OI can perform most activities of daily living, including self-care, school and work.

Enhancing strength and function is essential for health and wellbeing and bone health. Rehabilitation approaches include:[8]

  1. Exercise, including weight bearing activities (braces may be needed)
  2. Low-impact activities such as swimming (precautions must be defined)
  3. Care with safe handling and encouraging changes in body positions / postures throughout the day to help strengthen muscles / prevent deformities
  4. Prescribing appropriate adaptive equipment (e.g. cane, walker, manual or power wheelchair).
  5. Adapting the environment as needed (e.g. at work, home, school)

Individuals with OI might require intermittent or long-term rehabilitation for the following reasons:

  1. They have delays or weakness in motor skills
  2. They have had a fracture, surgery or injury
  3. They are experiencing fear of movement and are trying new skills and activities
  4. They are transitioning to a new stage of life etc, and need to get used to a new environment or train for a specific activity of daily living[8]

Key Principles of Therapeutic Strategies

When designing a rehabilitation programme for OI, it is necessary to engage in an appropriate task analysis. The following are useful points to consider:[8]

  • Skill progression - develop and progress gross motor skills (reaching, sitting etc) if they are delayed / difficult, particularly for individuals with severe OI. Skills may need to be retrained in adults after injury.
  • Using preventive positioning, protective handling and active movement with gradual progression can help to facilitate motor skill development safely.
  • Hydrotherapy can be useful for motor skill development and for individuals with fear of movement.
  • It is vital to ensure that an individual has appropriate equipment and assistive devices.
  • Encourage healthy living to promote general health.

Children of Glass[edit | edit source]

The following videos include excerpts from the Discovery Health documentary on the genetic brittle bone disorder "Osteogenesis Imperfecta" .

[9]
[10]
[11]
[12]

Resources[edit | edit source]

References[edit | edit source]

  1. ↑ 1.00 1.01 1.02 1.03 1.04 1.05 1.06 1.07 1.08 1.09 1.10 Osteogenesisi Imperfecta. Available from: https://radiopaedia.org/articles/osteogenesis-imperfecta-1 (Accessed, 15/10/ 2021).
  2. ↑ 2.0 2.1 2.2 2.3 2.4 2.5 2.6 2.7 2.8 Subramanian S. StatPearls Publishing LLC.; Treasure Island, FL, USA: 2021. Osteogenesis Imperfecta.
  3. ↑ Marr C, Seasman A, Bishop N. Managing the patient with osteogenesis imperfecta: a multidisciplinary approach. Journal of multidisciplinary healthcare. 2017; 10:145.
  4. ↑ 4.0 4.1 4.2 4.3 4.4 4.5 4.6 4.7 4.8 4.9 Osteogenesis Imperfecta. Available from: https://www.hopkinsmedicine.org/health/conditions-and-diseases/osteogenesis-imperfecta (Accessed, 15/10/2021).
  5. ↑ Dentiogenesis Imperfecta. Available from: https://medlineplus.gov/genetics/condition/dentinogenesis-imperfecta/ (Accessed, 15/10/2021).
  6. ↑ 6.0 6.1 Eskay, K. Paediatric Conditions: Down Syndrome, Duchenne Muscular Dystrophy, Osteogenesis Imperfecta and Arthrogryposis Multiplex Congenita. Plus. 2023
  7. ↑ Engelbert RH, Uiterwaal CS, Gulmans VA, Pruijs H, Helders PJ. Osteogenesis imperfecta in childhood: prognosis for walking. J Pediatr. 2000 Sep;137(3):397-402.
  8. ↑ 8.0 8.1 8.2 8.3 8.4 OI foundation Physical and Occupational Therapists Guide to Treating Osteogenesis Imperfecta Available:https://oif.org/wp-content/uploads/2019/08/PT_guide_final.pdf (accessed 15.10.2021)
  9. ↑ Bublitz Videos. Children of Glass - (Part 1 of 4). Available from: http://www.youtube.com/watch?v=TpAMTOud3bw [last accessed 27/8/2020]
  10. ↑ Bublitz Videos. Children of Glass - (Part 2 of 4). Available from: http://www.youtube.com/watch?v=GTpSxlPzC8k [last accessed 37/8/2020]
  11. ↑ Bublitz Videos. Children of Glass - (Part 3 of 4). Available from: http://www.youtube.com/watch?v=L2f8fz6vzoI [last accessed 27/8/2020]
  12. ↑ Bublitz Videos. Children of Glass - (Part 4 of 4). Available from: http://www.youtube.com/watch?v=QvbY7XqyMz8 [last accessed 27/8/2020]
Retrieved from "https://www.physio-pedia.com/index.php?title=Osteogenesis_Imperfecta&oldid=331985"