Guidelines Summary

In 2018, an expert panel, convened in association with the 13^th International Conference on Osteogenesis Imperfecta, published a consensus statement on physical rehabilitation in pediatric patients with the condition. The following guidelines were included^[57]:

The overall treatment goal for children with osteogenesis imperfecta is to maximize mobility, function, activities, and participation
A fear of fracturing is present in individuals with osteogenesis imperfecta, their families, and the health professionals treating them; this fear can be a limiting factor for patients in terms of reaching their full potential
Optimal muscle function can contribute to improvements in motor development, mobility, and functional independence, as well as in societal participation
After a fracture, active range of joint motion, muscular strength, and function of the affected limb should always be reevaluated; early start of rehabilitation after a fracture is important to evaluate the functional impact of the fracture, with intervention if necessary and avoidance of immobility
Strengthening of the trunk muscles and extremities may be used to decrease back pain and to improve breathing capacity and trunk stability for sitting
Soft spinal braces have been used postsurgery to stabilize the trunk, but there is a lack of evidence showing its efficacy in osteogenesis imperfecta; bracing in individuals with osteogenesis imperfecta with spinal deformities is not yet recommended
Upper extremity issues in children with osteogenesis imperfecta may limit participation in daily self-care activities
Appropriate assistive devices, compensatory strategies, and architectural adaptations can overcome limited upper extremity range of motion and weak muscle strength and thus promote independence in self-care
Early physical rehabilitation of infants with osteogenesis imperfecta includes assessment, therapy, and caregiver education; therapists educate caregivers on optimal and safe positioning and handling so that nurturing and development are facilitated, while the risk of fractures and deformities is minimized
Despite the most careful of handling, infants and children with osteogenesis will continue to fracture during infancy; therapists and caregivers should use wide hand support, as well as slow and gentle movements, and should avoid twisting the limbs
Alternating positions (supine, prone, side lying) can minimize skull and limb deformities; it is important to initiate upright sitting only once the infant has adequate head and trunk control
Some infants with osteogenesis imperfecta will follow a typical developmental course, while others may follow an individual path, developing their own strategies for movement
Most children with mild to moderate osteogenesis imperfecta are able to walk independently with or without ambulation aids; however, decreased muscle strength, fatigue, and/or pain may limit endurance and/or involvement in sports
Children with osteogenesis imperfecta should have access to a range of mobility aids to promote participation and independence; orthotics can be considered to maximize mobility, optimize muscle function, and minimize symptoms of pain and fatigue
The use of wheelchairs should be adjusted to meet the child’s participation needs and should not replace standing and walking activities; wheelchairs should be chosen carefully to match the size of the child
Well-coordinated, multidisciplinary management preoperatively and postoperatively, incorporating rehabilitation goals and equipment needs, ensures the patient’s quick return to functional activities and participation
Rehabilitation following lower extremity surgery should focus on range of motion, muscle function, gait, and functional reeducation

Medication

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Media Gallery

Acute fractures are observed in the radius and ulna. Multiple fractures can be seen in the ribs. Old healing humeral fracture with callus formation is observed.
Beaded ribs. Multiple fractures are seen in the long bones of the upper extremities.
Wormian bones are present in the skull.
This newborn has bilateral femoral fractures.

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Author

Eric T Rush, MD, FAAP Professor of Pediatrics, University of Missouri-Kansas City School of Medicine; Clinical Geneticist, Children's Mercy Hospital of Kansas City

Eric T Rush, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Physicians

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Alexion Pharmaceuticals, Ultragenyx Pharmaceutical, Biomarin Pharmaceuticals, ObsEva, Inozyme Pharma, Ascendis Pharma<br/>Serve(d) as a speaker or a member of a speakers bureau for: Alexion Pharmaceuticals, Ultragenyx Pharmaceutical, and Biomarin Pharmaceuticals<br/>Received research grant from: Alexion Pharmaceuticals, Ultragenyx Pharmaceuticals.

Coauthor(s)

Horacio B Plotkin, MD, FAAP Chief Medical Officer, Retrophin, Inc; Adjunct Associate Professor of Pediatrics and Orthopedic Surgery, University of Nebraska College of Medicine

Horacio B Plotkin, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Received salary from PPD, Inc for: PPD.

Chief Editor

Luis O Rohena, MD, PhD, FAAP, FACMG Deputy Chief, Department of Pediatrics, Chief, Medical Genetics, San Antonio Military Medical Center; Associate Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Associate Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD, PhD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Acknowledgements

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author Horatio Plotkin, MD, FAAP, to the development and writing of this article.

Erawati V Bawle, MD, FAAP, FACMG Retired Professor, Department of Pediatrics, Wayne State University School of Medicine

Erawati V Bawle, MD, FAAP, FACMG is a member of the following medical societies: American College of Medical Genetics and American Society of Human Genetics

Disclosure: Nothing to disclose.

Alexander A Cacciarelli, MD, FACR Consulting Staff, Department of Radiology, St Joseph's Hospital and Medical Center of Phoenix

Disclosure: Nothing to disclose.

Mandar A Pattekar, MD, MS Consulting Staff, Department of Radiology, Methodist Hospital

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

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