Genetics of Osteogenesis Imperfecta Guidelines

Updated: Aug 02, 2021
  • Author: Eric T Rush, MD, FAAP; Chief Editor: Luis O Rohena, MD, PhD, FAAP, FACMG  more...
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Guidelines Summary

In 2018, an expert panel, convened in association with the 13th 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