Page 21 - Delaware Medical Journal - June 2016
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SCIENTIFIC ARTICLE
OI Type V in an adult
Photo courtesy of Wikimedia Commons – ShakataGaNai
OI AND CHILD ABUSE
All types of OI can be diagnosed postnatally. Diagnosis of OI is straightforward when certain key elements are present including a positive family history, DI, blue sclera, wormian bones, scoliosis, etc. One study determined the diagnosis is successfully made on a clinical basis in 72 percent of cases.18 In the absence of the aforementioned typical clinical features, diagnosis can be particular attention to the skull, ribs, and long bones. Diagnosis for decreased collagen production.19
MEDICAL TREATMENT
Once a diagnosis of OI is made, it is critical to involve a multidisciplinary team including the pediatrician, physical therapist, endocrinologist, dentist, otolaryngologist, and pediatric orthopaedic surgeon. The goals of therapy include family support to best normalize the child’s life despite their handicap and maintain as much mobility as possible.1 Early rehabilitation and intervention from physiatrists and physical therapists address proper head support, aerobic conditioning, and muscle strengthening which are especially important in types III and IV. Physiatrists will work on new patterns of movement in a secured environment with physical training and psychological support because children fear pain and fractures while learning how to move and adapt to their environment. Children are trained to use special equipment including walkers and wheelchairs and learn transfers, how to navigate stairs, and basic activities of daily living.7
Current medical management almost always includes either
an oral or IV bisphosphonate administered in a cyclic pattern. Nitrogen containing bisphsphonates (alendrolate, zoledronic acid) act by inhibiting farnesyl diphosphate synthase, resulting in decreased prenylation of small GTPases. OI patients have been shown to have increases in BMD when treated with bisphosphonates.35,36 Indications for initiation of bisphosphonates are not fully elucidated in the literature. Some authors advocate initiating them in patients who sustain more than one low
impact fracture a year or in those who have multiple vertebral compression fractures.7 They have been used without adverse event in patients as young as one month.37
Use of bisphosphonates is currently off-label in children and parental consent is necessary. IV pamidronate given cyclically was the initial bisphosphonate of choice; however, further including oral ones. Treatment response can be observed as
early as one week after initiation with reduction in bone pain, improved ambulation scores, and decreased fracture incidence
in cancellous bone and an 88 percent cortical width has been observed.38 Response to treatment can be evaluated with an expectant drop in serum calcium and phosphate levels in two to four weeks, reduced serum alkaline phosphatase for up to four months, and decreased secretion of urinary N-telopeptide.26 mineral density with improvement in Z-scores up to 227 percent and no deleterious effects on growth.23,35,36 Pamidronate therapy is associated with metaphyseal bands termed zebra lines which
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