“When a child has OI, it is necessary to use a multidisciplinary technique that includes a care team of the different specialists the child might require. This includes orthopedists, geneticists, endocrinologists and others as required.”
Samantha Spencer, MD, orthopedic cosmetic surgeon, Boston Children’s Healthcare facility
If your child has been detected with osteogenesis imperfecta (OI), you’ll have issues and questions about her health, treatment, recovery and other problems. It may comfort you to understand that Boston Children’s Hospital is a world leader in pediatric orthopedics, and we have a wealth of experience helping children with this condition. We concentrate on innovative, family-centered care to support your child and household every step of the way.
Osteogenesis Imperfecta in Children
Osteogenesis imperfecta (OI), also referred to as brittle-bone disease, is a hereditary and acquired condition identified by vulnerable bones that break quickly without a specific cause.
- OI is brought on by a genetic problem impacting the non-mineral part of bone. About 85 percent of flaws remain in collagen, the triple helix connective tissue rope that holds the mineral parts of bones together. Other more rare forms of OI impact other proteins in bone.
- OI is a long-lasting condition that varies greatly in intensity, affecting bone quality and bone mass.
- The condition can also impact a child’s stature, hearing, skin, capillary, muscle mass (hypotonia, or poor muscle tone) and teeth (dentinogenesis imperfecta).
- The most common kind of OI (Type I) is the least severe.
- The disorder takes place in an approximated one from 12,000 to 15,000 babies, and similarly impacts kids and girls of all races and ethnic backgrounds.
- The condition is usually detected by:
- history of frequent fractures with very little trauma
- genetic testing of a blood sample (DNA blood test).
- bone density scan (DXA).
- Surgery may be had to handle:
- repeating fractures.
- bowing of the bone.
- scoliosis (sideways curvature of the spine).
- Orthopedists can frequently enhance vulnerable leg bones using minimally-invasive telescopic Fassier Duval rods.
How Boston Children’s Hospital approaches osteogenesis imperfecta.
Physicians at Children’s interact in multidisciplinary care teams to offer your child the personalized attention she requires. Depending upon the seriousness of your child’s OI, her care group could include orthopedic, hereditary and endocrinology experts– along with dentists, audiologists, physical and occupational therapists and pulmonologists.
Whatever treatment your child requires, you can have comfort understanding that, as a nationwide and global orthopedics center, our Orthopedic Center has huge experience treating children with OI. As an outcome, we supply professional diagnosis, treatment and look after children with every type and manifestation of the condition.
Symptoms & Causes of Osteogenesis Imperfecta in Children
Right now, you probably have great deals of concerns: How serious is osteogenesis imperfecta? How will the condition affect my child’s life? What do we do next? We’ve supplied some responses to your questions on this site, and our professionals at Children’s Medical facility Boston can discuss your child’s condition in detail when you meet us.
What are the symptoms and signs of osteogenesis imperfecta (OI)?
The significant sign of all forms of OI is bone fragility resulting in regular fractures.
There are actually 13 various types of OI. However according to the Osteoporosis and Related Bone Illness National Resource Center, part of the National Institutes of Health (NIH), the 4 significant types of OI are:
Type I: the mildest and most typical type– typically acquired
- bones fracture easily
- most fractures take place before puberty (adult women will periodically have fractures after menopause).
- can normally be traced through the family.
- near regular stature or slightly much shorter.
- blue or blue-gray sclera (the typically white area of the eyeball).
- dental problems (dentinogenesis imperfecta).
- hearing loss beginning in one’s 20s or 30s.
- triangular shape to deal with.
- spinal curvature.
Type II: the most severe type– regularly dangerous
- newborns seriously impacted.
- typically results from a new gene anomaly.
- incredibly little stature; extremely undersized chest; underdeveloped lungs.
Type III: severe type– normally no family history
- fractures at birth very common.
- x-ray might reveal healing of fractures that took place while in the uterus.
- severe early hearing loss.
- loose joints and poor muscle advancement in arms and legs.
- barrel-shaped rib cage.
Type IV: moderate type– often traced through family lines
- bones fracture quickly– a lot of before the age of puberty.
- typical or near-normal colored sclera.
- teeth might or might not be involved.
- spinal curvature.
- loose joints.
When does OI usually end up being apparent?
Severe cases of OI can be spotted in infancy, based upon clinical proof and screening. Milder forms can be difficult to identify in infancy and youth.
What causes OI?
The most common forms of OI are acquired and can normally be traced through the family.
How common is OI?
An approximated 25,000 to 50,000 Americans have OI.
An estimated one in every 12,000 to 15,000 babies is born with OI.
Is OI painful?
Like the disease itself, the level of pain a child might feel is extremely variable. Some children do experience chronic pain from their condition.
How serious is OI? Can my child function with this condition?
Osteogenesis imperfecta is a serious long-lasting condition that has to be handled through an interdisciplinary medical method to optimize a child’s lifestyle and capability to operate. The condition presents intricate obstacles on anatomical, medical and socio-psychological levels. However, children with OI can grow up to lead complete, efficient lives.
Do braces assist correct OI?
Braces, custom-made equipment and other assistive devices can help a child with OI to operate, but can’t result in an improvement of the condition itself.
How does a doctor detect OI?
Tools for diagnosing osteogenesis imperfecta can include:
- a complete medical history and physical examination.
- DNA blood test.
- DXA bone density scan.
How does Boston Children’s treat OI?
Treatments for preventing or remedying symptoms might include the following:
- surgery to handle.
- repeating fractures.
- bowing of the bone.
- scoliosis (sideways curvature).
- rodding (minimally-invasive procedure to insert a metal bar [Fassier Duval rod] the length of a long bone to stabilize it and prevent defect).
- assistive devices, such as wheelchairs, braces and other custom-made equipment.
- dental treatments.
- physical therapy.
- psychological therapy.
Will my child need lifelong care?
Yes. Boston Children’s follows our pediatric patients well into their adulthood.
What new research is Boston Children’s doing relating to OI?
As part of a comprehensive research study of OI in children and osteoporosis in adults, a team of Boston Children’s researchers led by Matthew Warman, MD, of Boston Children’s Orthopedic Research Laboratories, has actually crafted mice with uncommonly thick bones utilizing anomalies in a gene called Lrp5 that cause high bone mass in people. Learn more.
The scientific and basic science researchers in Boston Children’s Orthopedic Center are acknowledged throughout the world for their achievements in the field. Our developments imply that we can offer your child with the most innovative care offered.
The most common forms of osteogenesis imperfecta are acquired and can generally be traced through the household.
Symptoms and signs
Signs and symptoms of the most typical kinds of OI can provide at birth, or later in childhood, and consist of:
- quickly fractured bones.
- most fractures take place before the age of puberty.
- typically traceable through the household.
- near regular stature or a little much shorter.
- blue sclera (the generally white area of the eyeball).
- dental problems.
- hearing loss beginning in a patient’s 20s or 30s.
- triangular-shaped face.
- spine curvature.
Questions to ask your doctor
If your teenager or child is detected with osteogenesis imperfecta, you may feel a bit overwhelmed. It can be easy to lose track of the questions that occur to you. Lots of parents discover it valuable to write concerns as they occur– that way, when you talk with your child’s doctors, you can be sure that your issues get attended to.
A few of the questions you might wish to ask consist of:
- Could you describe what’s incorrect with my child’s bones?
- Are other tests needed to validate this medical diagnosis?
- Is there, or could there be, harm to her tissues, capillary or organ systems?
- Does my child requirement treatment? Does she require surgery?
- How will OI impact her growth?
- What will be the long-lasting effects?
- Who will be on my child’s care team?
- The length of time will my child’s care group follow her?
- What can we do at home to keep her safe?
Complications from surgery
If surgery is needed, the large bulk of surgeries for OI at Children’s succeed and occur without major complications. After surgery, patients are at a very little risk for infection, bleeding or bad bone healing (malunion).
Osteogenesis imperfecta is a major lifelong condition that has to be handled by an interdisciplinary medical team whose objective is to optimize a child’s lifestyle and ability to work. The condition presents intricate difficulties medical and psychological obstacles, but children with OI can grow up to lead complete, efficient lives.
Osteogenesis imperfecta glossary
- The Center for Families at Boston Children’s: dedicated to assisting households discover the details, services and resources they have to comprehend their child’s medical condition and take part in their care.
- hereditary: present at birth.
- DXA (dual-energy x-ray absorptiometry) scan: a painless, non-invasive scan that uses two various photon energies (x-ray beams) to determine soft tissue and bone. Currently, DXA is the most utilized method to
- determine bone mineral density.
- dentinogenesis imperfecta: dental issues associated with osteogenesis imperfecta.
- medical diagnosis, diagnostics: identifying disease or injury through evaluation, screening and observation.
- osteogenesis imperfecta (OI, brittle-bone disease): a genetic and acquired disorder identified by delicate bones that break easily without a particular cause.
- orthopedic cosmetic surgeon, orthopedist: a doctor who focuses on surgical and non-surgical treatment of the skeletal system, spine and associated muscles, joints and ligaments.
- orthopedics: the medical specialized concerned with diagnosing, treating, rehabilitating and preventing conditions and injuries to the spinal column, skeletal system and associated muscles, joints and ligaments.
- sclera: the generally white area of the eyeball; in OI, the sclera often has a bluish tinge.
- x-rays: a diagnostic test that uses invisible electro-magnetic energy beams to produce images of internal tissues, bones, and organs onto movie.
Boston Children’s Teenager Advisory Committee
To assist teens take a more proactive role in their treatment and to have their needs recognized, Boston Children’s developed the Teenager Advisory Committee. The group– comprised of existing Children’s patients, ages 14 to 21– works as a team of peers who can pay attention to other patients’ requirements, guarantee their voices are heard.
Treatments for Osteogenesis Imperfecta in Children
Boston Children’s Medical facility’s interdisciplinary group of sub-specialists supplies thorough treatment for osteogenesis imperfecta– including evaluation, diagnosis, assessment and follow-up care.
To date, there’s no recognized treatment, medicine or surgery that can cure OI, but treatment for the condition aims to:.
- appropriate and prevent fractures and deformities.
- allow your child to operate also and as separately as possible.
Treatments for preventing or correcting symptoms might consist of the following:
- surgery to handle.
- repeating fractures.
- bowing of the bone.
- scoliosis (sideways curvature of the spinal column).
- surgery to preserve your child’s ability to sit or stand.
- rodding (minimally-invasive procedure to insert a simple or telescopic metal rod [Fassier Duval rod] the length of a long bone to support it and prevent deformity).
- assistive devices, such as wheelchairs, braces and other customized equipment.
- dental procedures.
- physical therapy.
- medications (for pain and for bone strength).
- mental therapy.
Osteogenesis imperfecta is a major lifelong condition that needs to be handled through an interdisciplinary medical technique to take full advantage of a child’s lifestyle and capability to operate. The condition presents complex challenges on anatomical, medical and socio-psychological levels.
However, children with OI can grow up to lead full, efficient lives. Some popular figures who have OI consist of:
- American actor Michael J. Anderson.
- British actress Julie Fernandez.
- Jazz pianist Michel Petrucciani.
- British actor Nabil Shaban.
- German star, writer and ethicist Peter Radtke.
- Music producer Simon Eric Gilbert.
- Playwright Firdaus Kanga-Parsi.
- American Olympic bronze medalist Doug Herland.
If your child has had surgery, she’ll most likely stay in the healthcare facility for a few days to a week and will receive pain medication. When she goes home, she’ll need to restrict her weight-bearing activities, and she may use crutches or a walker for a couple of weeks. Physical therapy will assist her restore her muscle strength. Her doctor will advise on what activities she’ll be able to resume, and when.
The National Institutes of Health encourage the following modifications to protect the bones and tissues of a baby, child or teen with OI– and to adapt her living spaces to her condition:
- use spine-protecting strategies for standing, sitting and lifting.
- avoid activities that container or twist the spine, such as jumping.
- customize the child’s home and school environments to accommodate brief stature or low strength and to promote independent function.
- keep floors free of obstacles that might cause the child to fall or have an accident.
- establish healthy lifestyle diet and workout routines to optimize bone mass, develop muscle strength and avoid obesity.
Coping and assistance
At Boston Children’s, we comprehend that a health center go to can be tough. So, we provide lots of features to make your child’s– and your own– hospital experience as pleasant as possible. Visit the Center for Families for all you need to understand about:
- getting to Boston Children’s.
- navigating the health center experience.
- resources that are offered for your household.
In specific, we comprehend that you might have a lot of questions when your child is diagnosed with osteogenesis imperfecta. Will my child requirement surgery? How long will her recovery take? How will the condition impact her long term? Boston Children’s can help you connect with comprehensive resources to assist you and your family through this demanding time, including:
- patient education: From doctor’s appointments to treatment to follow-up, our nurses and physiotherapists will be on hand to walk you through your child’s diagnosis, surgery and recovery. And when your child is home, we’ll assist you coordinate and continue the care and assistance she got at Boston Children’s.
- parent-to-parent: Want to talk with someone whose child has been treated for OI? Our Orthopedic Center can typically put you in touch with other families who have actually been through the exact same experience that you and your child are facing.
- faith-based support: If you require spiritual support, we’ll link you with the Boston Children’s chaplaincy. Our program includes nearly a lots clergy– representing Protestant, Jewish, Muslim, Catholic and other faith customs– who will pay attention to you, pray with you and help you observe your own faith practices during your healthcare facility experience.
- social work: Our social employees and psychological health clinicians have actually helped many other families in your situation. We can provide therapy and assistance with concerns such as coping with your child’s medical diagnosis, worries associating with handling health problem and handling monetary concerns.
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