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Objectives: The aim of the study was to assess the muscoloskeletal system and spatiotemporal gait parameters of patients in three types of osteogenesis imperfecta., Design Study: Retrospective observational study., Settings: The Department of Rehabilitation, Children's Memorial Health Institute in Warsaw, Poland., Participants: This study investigated individuals with various types of osteogenesis imperfecta: 33 with osteogenesis imperfecta I (aged 13.9), 16 with osteogenesis imperfecta III (aged 10.4), and 14 with osteogenesis imperfecta IV (aged, 15.8), as well as a reference group of 400 healthy individuals., Main Measures: The musculoskeletal assessment included: medical record review, clinical evaluation, functional tests, long bone deformity assessment via clinical and X-ray examination, and objective gait analysis with the Vicon Motion Systems (Ltd, Oxford, UK)., Results: The study revealed notable differences in clinical presentation, deformities within the musculoskeletal system, gait parameters across the various types of osteogenesis imperfecta (p < 0.001). The most affected gait parameters were: cadence, gait speed and step length. The greatest deformities of lower limbs and spine were presented in patients with osteogenesis imperfecta type III., Conclusions: These findings are significant for understanding gait abnormalities in osteogenesis imperfecta patients and designing customized physiotherapy programs to help them participate fully in daily life. Improvement of muscle strength is one of the key for easier engagement in activities like walking or stair-climbing., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Background: This report describes a new strategy for the care of patients with osteogenesis imperfecta, based on an interdisciplinary team working. Thereby, we aim at fulfilling three main goals: offering thorough coordinated management for all, and improving physical activity and quality of life of the patients., Aim: With rare diseases such as osteogenesis imperfecta (OI), patients and their family often suffer from inadequate recognition of their disease, poor care coordination and incomplete information. A coordinated interdisciplinary approach is one possible solution for providing both comprehensive and cost-effective care, with benefits for patient satisfaction. Poor physical activity and impaired quality of life represent a considerable burden for these patients. To better address these issues, in 2012 we created an interdisciplinary team for the management of OI patients in our University Hospital Centre (CHUV, Lausanne University Hospital,). In this article we describe the implementation of this interdisciplinary care strategy for patients suffering from OI, and its impact on their physical activity and quality of life., Methods: All patients from the French part of Switzerland were invited to join us. We proposed two complementary evaluations: the initial interdisciplinary evaluation and a yearly follow-up during a special day &ndash; the &ldquo;OI day&rdquo;. This day features specialised medical appointments adapted to each patient&rsquo;s needs, as well as lectures and/or workshops dedicated to patients&rsquo; and families&rsquo; education. Our first aim was to propose for each patient the same management, from diagnosis to the bone health evaluation and physical therapy advice. Our second aim was to evaluate the evolution of physical activity, quality of life (measured by EQ-5D, SF-36 and a dedicated questionnaire) and satisfaction of patients and their families. Here we report both the initial and the long-term results., Results: Since 2012, 50 patients from the French part of Switzerland received the personalised medical evaluation. All of the patients included in this study had the same initial evaluation and at least one participation in an OI Day. All patients had an adaptation of their bone acting drugs. Over a 7-year period, 62% of inactive patients started some physical activity, and 44% of patients who were not involved in any athletic activity started participating in sports. The mean EQ-5D increased from 0.73 to 0.75 (p = 0.59). The mean physical SF36 (musculoskeletal function) score was 59.09 &plusmn; 22.72 and improved to 65.79 &plusmn; 21.51 (p = 0.08), whereas it was 68.06 &plusmn; 20.05 for the mental SF36 without alteration during follow-up. The OI day was revealed to be useful, it contributed to improvement in continuity of care and helped families to better understand the OI patients&rsquo; health., Conclusions: Our interdisciplinary approach aimed at offering the same thorough management for all patients from the French part of Switzerland, and at improving both the physical activity and the satisfaction of the patients and their family. This report is a basis for future work focusing on the effect of bone fragility and the impact of OI on patients&rsquo; social relations.

Purpose: Osteogenesis imperfecta (OI) is a genetic connective tissue disorder that causes bone fragility. Phenotypic severity influences ability to walk, however, little is known about ambulatory characteristics of individuals with OI, especially in more severe forms. The purpose of this work was to characterize mobility in OI using standard clinical assessment tools and determine if patient characteristics could be used to predict mobility outcomes., Methods: We collected mobility data at five clinical sites to analyze the largest cohort of individuals with OI (n = 491) to date. Linear mixed models were developed to explore relationships among subject demographics and mobility metrics., Results: Results showed minor limitations in the mild group while the more severe types showed more significant limitations in all mobility metrics analyzed. Height and weight were shown to be the most significant predictors of mobility. Relationships with mobility and bisphosphonates varied with OI type and type used (oral/IV)., Conclusion: These results are significant to understanding mobility limitations of specific types of OI and beneficial when developing rehabilitation protocols for this population. It is important for physicians, patients, and caregivers to gain insight into severity and classification of the disease and the influence of disease-related characteristics on prognosis for mobility.

In this large-sample study, we demonstrated that osteogenesis imperfecta (OI) significantly impaired the quality of life (QoL) in children. Moderate/severe OI patients had worse QoL scores than patients with mild OI. Furthermore, the QoL for OI patients was correlated with the presence of pathogenic gene mutations., Introduction: Osteogenesis imperfecta (OI) is a hereditary disease characterized by multiple fragility fractures and progressive skeletal deformities. No detailed investigations about the quality of life (QoL) have been carried out in a large sample of patients with OI. We evaluated the QoL and its influencing factors in a large and well-characterized OI cohort., Methods: We used a validated questionnaire of PedsQL 4.0 to evaluate the health-related quality of life (HRQoL) of children and adolescents with OI. We compared HRQoL among patients with OI types I, III, and IV. The relationship between HRQoL and pathogenic mutations in candidate OI genes was investigated. We also evaluated the influencing factors of HRQoL in OI patients., Results: A total of 138 children with OI and 138 healthy controls were enrolled in this study. The HRQoL scores of OI patients were 64.4 ± 30.0, 71.9 ± 22.2, 75.7 ± 24.8, 63.7 ± 24.5, and 68.9 ± 22.0 in physical, emotional, social, school functioning, and total score, respectively, which were significantly lower than those of healthy children (86.5 ± 12.7, 83.3 ± 16.0, 92.1 ± 11.8, 87.5 ± 11.8, and 87.3 ± 10.7, all p < 0.01). Moderate and severe OI (type III/IV) patients had poorer HRQoL scores than patients with mild OI (type I). Gene mutations inducing qualitative defects in type I collagen led to worse HRQoL scores than those with quantitative defects in type I collagen, except in emotional functioning. The total HRQoL score was positively correlated with family income, lumbar, and femoral bone mineral density (BMD) Z-scores and negatively correlated with disease severity and fracture frequency., Conclusion: HRQoL was significantly impaired in OI patients, and patients with more severe OI had poorer HRQoL scores. For the first time, we found that children with qualitative defects in type I collagen had poorer HRQoL scores than those with quantitative defects in type I collagen.

There is limited research which examines health concerns of individuals with osteogenesis imperfecta (OI). Discussion groups with leaders of the adult OI community identified a broad range of medical priorities beyond fractures and brittle bones. Our work underscores the need to include patient-reported outcomes in rare bone disease research., Introduction: Osteogenesis imperfecta (OI) is a rare genetic disorder affecting collagen protein leading to brittle bones and a number of other medical complications. To date, there is limited research which examines the life-long process of aging with this rare disease, much less the perspective of individuals with OI., Methods: In order to explore and prioritize health concerns that adults with OI feel have been inadequately addressed in health care and research, investigators held discussions with leaders from the global adult OI community. The meetings were held in August 2017 at the 13th International Conference on OI in Oslo, Norway as part of the preconference seminar "Patient Participation in OI Research". Investigators were part of the Brittle Bone Disease Consortium (BBDC), a multicenter research program devoted to the study of OI, and their focus was on patient-reported outcomes (PRO)., Results: Participants noted that while fractures and brittle bones are the most common feature of OI, a number of body systems are under-studied in this disorder. They particularly emphasized breathing, hearing, and the effects of aging as primary concerns that researchers and physicians may not fully understand or address. Other areas included pain, gastrointestinal problems, mental health, nutrition, menopause/pregnancy, and basilar invagination. Participants also emphasized that they must be informed of study results. They underscored that outcome measures incorporated into future drug trials must look beyond fractures and consider the whole patient., Conclusions: This work will help guide the incorporation of PROs into the next phase of the BBDC Natural History Study of OI and underscores the importance of including PROs in the study of rare diseases.

On the occasion of the 13th International Conference on Osteogenesis imperfecta in August 2017 an expert panel was convened to develop an international consensus paper regarding physical rehabilitation in children and adolescents with Osteogenesis imperfecta. The experts were chosen based on their clinical experience with children with osteogenesis imperfecta and were identified by sending out questionnaires to specialized centers and patient organizations in 26 different countries. The final expert-group included 16 representatives (12 physiotherapists, two occupational therapists and two medical doctors) from 14 countries. Within the framework of a collation of personal experiences and the results of a literature search, the participating physiotherapists, occupational therapists and medical doctors formulated 17 expert-statements on physical rehabilitation in patients aged 0-18 years with osteogenesis imperfecta.

This case history report describes the long-term prosthodontic treatment of a patient with gnathodiaphyseal dysplasia (GDD). The patient was initially diagnosed with osteomyelitis in the maxilla in 1986, followed by osteonecrosis spread throughout the mandible. GDD was genetically diagnosed in 2006. Despite the severe alveolar bone resorption, prosthodontic treatment improved the patient's satisfaction and ability to perform essential functions. Regular prosthesis adjustments and periodic follow-up should continue to avoid future complications.

Context: Osteogenesis imperfecta (OI) is associated with reduced muscle size, dynamic muscle function, and mobility., Objective: To assess the effect of whole body vibration (WBV) on bone density and geometry, muscle size and function, mobility, and balance in children with OI., Design: Randomized controlled pilot trial., Setting: Tertiary pediatric research center., Participants: Twenty-four children (5 to 16 years) with OI types 1, 4, and limited mobility [Child Health Assessment Questionnaire (CHAQ) score ≥ 0.13] recruited in sex- and pubertal stage-matched pairs. Incident fractures in two boys (WBV arm) led to exclusion of two prepubertal pairs., Intervention: Five months of WBV training (3 × 3 minutes twice daily) or regular care., Main Outcome Measures: Bone and muscle variables measured by dual-energy X-ray absorptiometry (spine, hip, total body) and peripheral quantitative computed tomography (tibia). Mobility assessed by 6-minute walk tests and CHAQ; dynamic muscle function by mechanography., Results: All participants had reduced walking distances and muscle function (P < 0.001). Body mass index z score was associated with higher CHAQ scores (ρ + 0.552; P = 0.005) and lower walking and two-leg jumping performance (ρ - 0.405 to -0.654, P < 0.05). The WBV and control groups did not differ in the 5-month changes in bone. Total lean mass increased more in the WBV group [+1119 g (+224 to +1744)] compared with controls [+635 g (-951 to +1006)], P = 0.01, without improving mobility, muscle function, or balance., Conclusions: The increase in lean mass without changes in muscle function or bone mass suggests reduced biomechanical responsiveness of the muscle-bone unit in children with OI., (Copyright © 2017 Endocrine Society)

Gnathodiaphyseal dysplasia (GDD) is a rare hereditary syndrome characterized by cemento-ossifying fibromas of the maxillary bones, fragile bones, curvature and cortical thinning of the tubular bones, and diaphyseal sclerosis of the long bones. In this study, 2 complex clinical cases of 2 members of the same family had GDD and were treated in the authors' odonto-stomatology department. The first was treated with a block bone graft and implant-prosthetic therapy; the other, who had extensive osteomyelitis of the second quadrant, was managed with extraction of the involved teeth, surgical revision of the site, and a graft of autologous platelet concentrate., (Copyright © 2016 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.)

Objective: Osteogenesis imperfecta (OI) is a rare disease leading to recurrent fractures, hyperlaxicity of ligaments, short stature and muscular weakness. Physiotherapy is one important treatment approach. The objective of our analysis was to evaluate the effect of a new physiotherapy approach including side alternating whole body vibration on motor function in children with OI., Methods: In a retrospective analysis data of 53 children were analyzed. The 12 months approach included 6 months of side alternating whole body vibration training, concomitant physiotherapy, resistance training, treadmill training and 6 months follow up. Primary outcome parameter was the Gross Motor Function Measure after 12 months (M12)., Results: 53 children (male: 32; age (mean±SEM): 9.1±0.61, range 2.54-24.81 years) participated in the treatment approach. A significant increase of motor function (GMFM-66 score 55.47±2.45 to 58.67±2.83; p=0.001) and walking distance (47.04 m±6.52 to 63.36±8.25 m (p<0.01) between M0 and M12 was seen. Total body without head bone mineral density increased significantly at M12 (p=0.0189)., Conclusions: In the cohort of OI children which participated in the specialized treatment approach improvements of motor function were observed. Therefore this program should be considered as additional therapeutic approach for children with severe OI.

This work provides a systematic review of literature, a careful analysis, synthesis and critical review, gathering the relevant findings and results of 20 clinical studies on Osteogenesis Imperfecta all with the ultimate goal of generating an overview of nursing assistance addressed to the child with this rare chronic disease. The works come from texts considered scientifically validated. The review will serve as a stimulus to improve nursing care and lead nurses to care conscious choices based on scientific evidence, as it is only by an experienced and experimental evidence that can rise to the optimal treatment for each patient (R. Iovine, 2000).

Purpose: To determine whether children with type I osteogenesis imperfecta (OI) exhibit ankle plantar flexor weakness and whether this correlates with physical function., Methods: Twenty children and adolescents with type I OI and 20 age-matched controls (age 6-18 years) participated in a single evaluation session. Data included strength assessment, Gillette Functional Assessment Questionnaire, Pediatric Outcome Data Collection Instrument (PODCI), and Faces Pain Scale-Revised., Results: Ankle plantar flexor weakness was evident in the OI group compared with the control group. Heel-rise strength correlated with ankle isometric plantar flexion strength. Limitations in PODCI subscales-sports and physical function and pain/comfort-are present in the OI group., Conclusion: Ankle plantar flexor weakness is present in children and adolescents with type I OI and correlates with function. Gillette Functional Assessment Questionnaire, PODCI, and strength assessment are valuable evaluation tools for children and adolescents with type I OI and can aid therapists in goal setting.

The present report describes the oral rehabilitation of a female patient suffering from type III osteogenesis imperfecta. Agenesis of the mandibular anterior teeth and malocclusion caused partly by heavily worn teeth made dental rehabilitation necessary. Before a decision to use implants following a grafting procedure, the osseointegration of microimplants was tested. After 4 and 12 months, bone plugs containing two microimplants were retrieved from the patient. Histologic evaluation showed very sparse/poor osseointegration, and the healing time seemed to be much longer than normal. A decision was made to use the "tent-pole" procedure described by Marx et al, followed by prolonged healing. Surgery was uneventful, and the patient was provided with four implants that were partly covered with bone obtained from the iliac crest. Platelet-rich plasma was used to accelerate bone healing. After 9 months, the implants were uncovered and the prosthetic construction was completed. The implant-supported metal-ceramic restoration was serving well at the 1-year and 3-year follow-ups. Minimal resorption of marginal bone was detected during the first year.

A 3D biomechanical model with a novel instrumented Lofstrand crutch system is presented. The novel Lofstrand crutch system consists of two six-axis load cells incorporated in the crutch to study the reaction forces occurring at the crutch handle and the cuff. The goal of this study is to quantify the effect of the cuff forces with the help of this improved crutch system. The kinematic model developed is verified based on previous studies. The kinetic model, consisting of the forces, is derived using the kinematic data, anthropometric data and the reaction forces generated from the load cells. The kinetic data is also in accordance with previous studies. Thus, the novel crutch system has been verified for evaluating the force loading on shoulder, elbow and wrist. This model would be further implemented on children suffering from Osteogenesis Imperfecta (OI), which would help in evaluating injury prevention criteria for long-term crutch users.

Introduction: Osteogenesis imperfecta (OI) is a genetic disorder caused by a mutation in the genes that encode the chains of type I collagen. Clinical manifestations include increased bone fragility and blue sclerae. OI type III is the most severe form with fractures occurring already in utero. Fracture immobilisation and orthopaedic surgery are the mainstay of treatment for patients with OI, and are combined with rehabilitation and bisphosphonate therapy., Patients and Methods: The study involved 8 children with osteogenesis imperfecta type III, aged 1 month to 6 years. All of them were treated with cyclic intravenous infusions of pamidronate. Laboratory studies conducted before and after each 3-day cycle of pamidronate therapy included complete blood count, serum calcium, phosphorus, magnesium, osteocalcin, and calcium/creatinine index in morning urine and collagen type I cross-linked N-telopeptide (NTx). Infant total body densitometric scans were obtained in 5/8 patients., Results: Patients were treated for periods of 3-58 months. Fracture rates decreased with treatment in all patients compared to the prenatal period. Pamidronate also slowed down bone turnover, and particularly the resorption rate. The most common side effects during treatment included hypocalcaemia (7/8 patients) and fever (up to 39 degrees C) after the first cycle of treatment., Conclusion: Symptomatic bisphosphonate therapy in children with osteogenesis imperfecta ameliorated the clinical course (decreased bone pain and reduced incidence of fractures). Pamidronate therapy had a positive impact on functional parameters such as independence in everyday activities and better mobility. The treatment was safe.

Children with moderate to severe forms of osteogenesis imperfecta (OI) require adequate physiotherapy, rehabilitation and orthopedic surgery. Supportive treatment with bisphosphonates can improve the effects of these nonmedicinal treatment modalities. Benefits of bisphosphonate treatment include decreased pain, lower fracture incidence, and better mobility. Among the various bisphosphonates, intravenous pamidronate has been studied in most detail. However, the optimal treatment regimen and the long-term consequences of pamidronate treatment in children are currently unknown. Given these uncertainties, treatment with bisphosphonates during growth should be reserved for patients who have significant clinical problems, such as vertebral compression fractures or long-bone deformities. Medical therapies other than bisphosphonates play a minor role at present. Gene-based therapy currently remains in the realm of preclinical research.

Adults with Osteogenesis Imperfecta (OI) are rarely referred to facilities of general rehabilitation medicine. Recently, two OI patients were admitted to our department because of additional neurological disabilities: stroke and spinal cord injury. In these circumstances, the hospitalization course has different characteristics.

Objective: To evaluate the functional abilities and the level of ambulation during pamidronate therapy in children with moderate to severe osteogenesis imperfecta., Study Design: Functional abilities, ambulation, and grip force were assessed in 59 patients (mean age, 6.1 years; range, 0.5-15.7 years; 30 girls) during 3 years of pamidronate treatment. Functional skills (mobility and self-care) were both assessed by using the Pediatric Evaluation of Disability Inventory. Ambulation level was assessed by using the modified Bleck score. For 48 patients, results after 3 years of pamidronate treatment could be matched to those of patients with similar age and disease severity who had not received pamidronate., Results: Mobility and self-care scores increased during the study period (+43% and +30%, respectively). The average ambulation score changed from 0.8 to 1.9. Maximal isometric grip force increased by 63%. Mobility and ambulation scores and grip force measures were significantly higher than in patients who had not received pamidronate. The difference in self-care scores did not reach significance., Conclusion: This study suggests that cyclical pamidronate treatment improves mobility, ambulation level, and muscle force in children with moderate to severe osteogenesis imperfecta.

Several tricycles, one a customized power assisted tricycle, and the second a hand powered tricycle were developed, which offered a unique opportunity to serve multiple purposes in several children's development throughout Wyoming. In Both cases these tricycles provide the children with the opportunity to gain muscle mass, strength, coordination, and confidence. The power assisted tricycle was completed as a senior design project in 2002, and over time safety enhancements have been completed to make the tricycle safer for operation. Unfortunately, the safety system enhancements were not acceptable for it to be released for use. For this reason the tricycle was further redesigned to include more redundant safety systems which will allow the tricycle to be safe for the child's use. The second tricycle was designed to allow for a group of children who have limited use of their legs, to be able to use the same tricycle to give them more upper body strength. A gear system using multiple gear sprockets was adapted to a preexisting tricycle to provide hand power rather than foot power. Without these improvements, the children would not have the opportunity to use these tricycles to help with their development.

A child in the community of Laramie, Wyoming was born with Osteogenesis Imperfecta which is a genetic disorder that limits the physical abilities, size, and strength of the child. A customized power assisted tricycle was developed, which offered a unique opportunity to serve multiple purposes in his childhood development. This tricycle will ultimately provide him with the opportunity to gain muscle mass, strength, coordination, and confidence. The tricycle was completed as a senior design project in 2002, funded by the National Science Foundation, Biomedical Engineering Program and research to Aid Persons with Disabilities Program and University of Wyoming, College of Engineering Undergraduate Design Project to Aid Wyoming Persons with Disabilities. Unfortunately, the tricycle did not provide the necessary features to allow him to ride the tricycle safely. For this reason the tricycle was redesigned to include many different redundant safety systems which allows the tricycle to be safe for the child's use. Being funded by the same grant, new systems were added to the tricycle. A panic kill switch, automatic brakes, numerous redundant velocity sensors, tip over prevention circuitry, a redesigned operating system, a battery recharge port, and other systems were added, allowing for the tricycle to provide a high level of safety. A great deal of testing and sound design practices have been taken into consideration throughout the addition of these systems. Without these improvements, the child would not have the opportunity to use the tricycle to help with his development.

Objectives: To study (1). changes in anthropometrics, joint range of motion (ROM), muscle strength, functional ability, caregiver assistance, and level of ambulation in children with osteogenesis imperfecta (OI) and (2). the prediction of clinical characteristics at the level of ambulation at follow-up and the prediction of clinical characteristics on progression or regression at the level of ambulation over time., Design: Prospective study with follow-up of 4 years., Setting: A children's hospital that serves a nationwide center for treatment and research in children with OI in the Netherlands., Participants: At follow-up, 49 children (24 boys, 25 girls; mean age +/- standard deviation, 11.3+/-3.8y; range, 5.2-19.4y) participated., Interventions: Not applicable., Main Outcome Measures: Anthropometry, joint ROM, muscle strength, fracture frequency, intramedullary rodding, level of ambulation, functional ability, and caregiver assistance., Results: In type I OI, total joint ROM decreased significantly over time, especially in the lower extremities, with a significant decrease in generalized joint hypermobility according to Bulbena (median start, 7.5; interquartile range [IQR], 4-9; median end, 6; IQR, 2-7; P<.001). In types III and IV, a severe decrease in total joint ROM was present without significant changes over time. No significant changes in total muscle strength (upper or lower extremities) in the different types of OI were measured at follow-up. In OI type I, a significant increase in self-care (P=.003) and social function (P=.008) was measured; in type III, a significant increase in self-care (P=.003), mobility (P=.004), and social function (P=.005) was measured, with a significant decrease in parental assistance in self-care (P=.02) and mobility (P=.005). In type IV, a significant increase was observed in the self-care (P=.01) and social function domains (P=.02). Type of OI (regression coefficient=-1.0; 95% confidence interval [CI], -1.64 to -0.47) and total muscle strength were the only significant predictors for level of ambulation (regression coefficient=.01; 95% CI,.17-.32). Body weight was significantly lower in the group that progressed in level of ambulation (P=.03), whereas children with a decline in level of ambulation had significantly higher body weight (P=.05)., Conclusions: Ours is the first study with a long-term follow-up that provides information concerning the natural course of developmental outcome parameters of OI in childhood. Joint ROM and muscle strength did not change significantly over time, possibly because of the biomechanical skeletal properties of the different OI types. Functional ability improved significantly over time, but, especially in types III and IV, did not reach normative values, possibly because of a plateau phase in functional ability. Knowledge of the natural course of the disease is essential to interpret the results from intervention studies.

We studied the effects of spondylodesis on spinal curvature, functional outcome, level of ambulation and perceived competence in 11 children with osteogenesis imperfecta (OI). Mean age at surgical intervention was 13.1 years (SD 2.5 years) and follow-up amounted to 3.4 years (SD 2.3 years). Spinal curvature was measured according to Cobb. The level of ambulation was scored according to the modified criteria of Bleck. Functional abilities and the amount of parental assistance were scored using the Dutch version of the Pediatric Evaluation of Disability Inventory (PEDI). Perceived competence was measured using the Harter Self-Perception Profile for Children. The amount of fatigue, spinal pain and presence of subjective dyspnea were scored with a visual analog scale. The median progression per year before spondylodesis was 6.1 degrees (interquartile range 2.9 degrees -12.9 degrees ) and after the spondylodesis it was 5.0 degrees (interquartile range 1.6 degrees -11.0 degrees ). No significant progression or regression in the level of ambulation was found. Perceived competence improved slightly. In the total score of the perceived competence, a borderline significant increase was found ( P-value 0.068). We concluded that spinal fusion in children with OI does not materially influence functional ability and level of ambulation. Self-perceived competence seemed to improve after surgery. The amount of pain, fatigue and subjective dyspnea seemed to diminish after spinal surgery. Progression of scoliosis proceeded, as did development of spinal curvature at the junction of the spondylodesis. Therefore, oral or intravenous bisphosphonates before and after spinal surgery should be considered.

Osteogenesis Imperfecta, a heterogenous group of inherited disorders, is characterized by both bone fragility and low bone mass. Since the Sillence classification of the disease, significant progress has been made in understanding the molecular, histological and genetical pathogenesis of the disease, and it led to expanded nosology. The multidisciplinary approach including rehabilitation, medications and surgery, may significantly improve the quality of life and prolong life expectancy.

Osteogenesis imperfecta is a connective tissue disease connected with improper synthesis of collagen type I. Bone fragility, blue sclera and hearing loss are the main symptoms of classic type of the disease. Early (6 months) and late (10 years) results of stapedectomy in 3 patients with osteogenesis imperfecta syndrome are presented. Six months postoperatively air-bone gap was smaller than 10 dB in 2 patients and 17 dB in one patient. In all patients, bone conduction pure tone threshold improved after the operation. Audiometric tests performed 10 years after stapedectomy were similar to those obtained 6 months after the operation. Stapedectomy in patients with osteogenesis imperfecta syndrome provides good and stable hearing results.

Objectives: To evaluate the effects of withdrawal of long-leg braces (hip-knee-ankle-foot orthoses [HKAFO]) on activity and ambulation in children with osteogenesis imperfecta., Design: A prospective, randomized cross-over trial, that describes the effects of withdrawing HKAFO., Patients: Ten children who were ambulatory with the assistance of braces. All had type III or IV osteogenesis imperfecta. Children were paired for age and clinical severity. Strength testing, fractures, and independence in daily activity were monitored at 4-month intervals for 32 months (16 months each of braced and unbraced periods). Gait was analyzed during braced and unbraced conditions., Results: Muscle strength declined .35 grade during unbraced and .1 grade during braced intervals. Children spent more time in upright activity during braced intervals than during unbraced intervals (p = .17). Children were more independent in daily activities during braced than during unbraced periods (p = .14). Seventeen fractures of lower extremities occurred during all the unbraced periods, and 8 occurred during the braced intervals (p = .08); the fracture rate was higher during unbraced intervals. (p = .06) Bracing was associated with increased hip flexion and stride length and decreased transverse plane pelvic rotation., Conclusion: Withdrawal of HKAFO in children with osteogenesis imperfecta who had achieved upright activity was not associated with significant decrease in muscle strength or independence, but there was an associated increase in fracture rate that nearly reached significance.

1. A Presentation of the TRS Project: Counselling and (Re)habilitation Center. A Model Project in Organizing Services for Low Frequency Diagnostic Groups. Persons with low frequency disabilities often require services from a number of professions. The patient organizations claim that the patients themselves often have to coordinate their own treatment. The TRS project has been established as one of the initiatives under the Norwegian Government's Plan of Action for the Disabled. The project is one of three national projects designed to develop models for the coordination of services for persons with low frequency congenital disabilities. The TRS project deals with the following five diagnoses: Marfan syndrome, arthrogryphosis multiplex congenita, myelomeningocele/spina bifida, osteogenesis imperfecta and congenital limb deficiency. The project is based on patient (user) participation. The five patient organizations are represented on the board where they are in the majority. Patients along with professionals give lectures during group stays. The project offers its services to persons with the diagnosis from all parts of Norway (4.3 mill. inhabitants). Persons with spina bifida over 16 years are included in the project, as well as persons with the other diagnoses at all ages. We present the organization of the project and the repertoire of services that are on offer. 2. Cognitive Deficits Often Seen in Young Adults with Spina Bifida: Effects in the School and Work Place. As survival rates continue to increase with the use of shunting procedures for persons with spina bifida (SB), the need for improved educational and vocational planning also increases. Orbeck and Schanke reported that the cognitive deficits of young adults with SB have not received enough attention in educational and vocational planning. A thorough description of these deficits will aid in developing more effective individualized planning. With improved planning, insight into alternative methods for improving support may also then be investigated. The purpose of this study is to better define and describe the cognitive deficits often encountered while planning support in the school and work place for this group. Neuropsychological examinations are the basis for this description of observed cognitive deficits. The study included 46 young adults with SB aged 15 to 38 living in Norway. All persons were given a neuropsychological test battery which included tests for attention, memory, speed of information processing, visual perception and visual constructive function, arithmetic, fine motor coordination, and verbal functioning. The results indicated deficits in fine motor coordination, speed of information processing, and a slow learning curve. The consequences of these deficits in educational and vocational planning are discussed and guidelines for further studies are suggested.

Knowledge of the natural history of different types of OI permits planning of rehabilitation goals for children with OI. Notwithstanding this knowledge, rehabilitation will need to be modified to accommodate unexpected fractures and the highly variable chance of deformity in each individual. Immobilisation should be minimized to avoid immobilization osteoporosis. New rehabilitation issues include basilar impression, recommencement of fractures in postmenopausal women with OI, pregnancy related bone loss and sleep apnoea.

Experience gained over twelve years of treating infants with Osteogenesis Imperfecta is described. Emphasized are the facts that no child, including those with OI Sillence II, is too severely involved to not benefit at least from positioning to prevent severe secondary deformities; the Sillence classification does not predict functional ability, particularly regarding patiens with type III OI; disuse weakness and osteoporosis due to immobilization may be more handicapping than the underlying disease itself.

Persons with Osteogenesis Imperfecta (OI) are often protected and sheltered because of the fragile nature of their bones. Regardless of the degree of OI. over protecting a person with OI can be just as devastating as fractured bones. It is important that persons with OI are given the opportunity to participate in a wide variety of activities to develop the experiential, physical, and sociological dimensions of their lives. Assistive technology can help to make this participation a reality. Assistive technology should help protect the person from fractures, provide support to assist with postural alignment, and stability so that function and comfort can be enhanced. Technologies such as contoured foam mattresses, seating supports, temperature regulation technologies, orthotic supports, walking and wheelchair mobility devices can enhance the quality of live of people with OI.

Fitting children and infants who have osteogenesis imperfecta (OI) with braces has posed substantial problems of implementation and patient management For the past twelve years bracing has been an important component of a patient research and management program conducted at the National Institutes of Health. By using the smallest manufactured parts and developing a wealth of experience, functional and well-fitting braces have been provided to a number of tiny and small children. Bracing allows these children to stand and walk earlier than would have otherwise been possible. Braces are used in conjunction with standing frames and parapodiums to increase a child's mobility. Less involved children have become good household and short distance ambulators with the use of braces.

The unique biological changes associated with Osteogenesis Imperfecta (OI) result in a dramatic reduction in a child's functional capacity. Successful adaptation and optimal functioning for the child and family, the over-arching goal of comprehensive rehabilitation, are dependent upon the complex interactions between biological processes and a host of behavioral, psychosocial, and environmental factors. This article reviews the premises underlying the need for rehabilitation; general rehabilitation strategies; the aims and outcomes to be achieved through the provision of rehabilitation; and the broad-based issues and variables that affect outcome. Because of the multifactorial and complex nature of the pediatric disability, advances in the rehabilitation of children with OI will require long-term, multivariant, and multicenter studies that will capture health-related, psychosocial, environmental, and functional variables.

This Frontiers in Osteogenesis Imperfecta conference has been organized to foster communication between clinical and laboratory scientists as well as future collaborations. In fact, one of the goals we have had as organizers of this meeting is that new areas of investigation would be fostered. I will attempt to present some of the as yet unanswered clinical questions that I believe are important for this population.

Reported here are seven patients who had severe osteogenesis imperfecta, and who were extremely fragile, with three having cardiac disease. Their age ranged between 8 and 35 months. All seven patients had unbraceable deformities. Twenty five long bones, including 14 tibiae, 10 femora, and 1 ulna underwent percutaneous intramedullary fixation. Four patients had all four lower extremity long bones operated on simultaneously. Followup was 2 to 11 years. There were no neurologic or vascular complications, compartment syndromes, growth plate problems, or transfusion requirements. All bones healed. One patient had migration of a femoral pin into the knee joint. After bracing, all patients were able to sit; five were able to stand and eventually walk. All living patients were able to be sustained until successful definitive long bone fixation could be accomplished, approximately 2 years or longer after this initial procedure. With this safe, reproducible method, early stable fixation can be provided to patients too young and/or too sick for definitive or extensive open surgery. Future treatment regimens are not compromised.

Background: 209 patients with osteogenesis imperfecta type I, III and IV were studied to provide data on the natural course of the disease until the end of the second decade., Results: Weight and length at birth were normal in most cases of type I and IV, markedly reduced in type III. Fractures and deformities at birth were most frequent in type III. High fracture rates occurred in type III and IV up to 8-10 years of age. Skeletal deformities developed primarily in the lower extremities and the spine, again most frequently in type III. Radiological features were--besides osteopenia--Wormian bones of the skull, pseudoarthroses, deformity of the pelvis, popcorn epiphyses (most frequent in type III) and hyperplastic callus (most frequent in type IV). Longitudinal growth of patients with type I was in the lower normal range, while patients with type III and IV developed marked growth deficiency. Motor performance was not severely impaired in most cases of type I; however, all type III patients and 71% of type IV patients were confined to a wheelchair in later life., Conclusion: As defined, type I patients had a mild clinical course until early adulthood. Type III and IV represented a spectrum of severely affected patients. Although type IV patients were less affected at birth, their postnatal course in some respects resembled that of type III.

Twenty-five children with severe osteogenesis imperfecta were followed and treated with physical and occupational therapy for a mean of five years, two months, 80% since the first two years of life. According to their highest achieved motor skill, they fell into three groups: (A) able to stand in braces, (B) able to ambulate short distances without braces, and (C) able to ambulate in the community without assistance. Preventable functional impairment is caused in group A by shoulder joint and hand contractures and upper extremity weakness, group by hip flexion and plantar flexion contractures of the feet, shoulder joint contractures, and upper extremity weakness, and group C by poor lower extremity joint alignment, impaired balance, and low endurance. Appropriate rehabilitation strategies have led to slow, continued functional improvement in the majority of patients. Results of the ten-year retrospective study suggest that clinical groupings based in part on functional needs will enable the clinician to provide optimal rehabilitation services.

Children with osteogenesis imperfecta (OI) that results in considerable deformity are often viewed as poor candidates for aggressive physical therapy and rehabilitation. To determine if this view is realistic, we have entered almost 50 children with OI type III and OI type IV into a comprehensive graduated rehabilitation program, based at the National Institutes of Health, but designed to be implemented by continuing involvement of community resources. Children are begun in the program early with emphasis on gain of head and trunk control and progression to sitting and walking, if possible, with the aid of a variety of physical supports, including internal and external bracing. Although not conducted in a randomized fashion, the program's success in bringing children into graded exercise regimes and fostering their increased involvement in school and social situations suggest that aggressive physical therapy and rehabilitation have a major place in the overall care of the infants and children with OI.

Intramedullary extendable Bailey-Dubow nails were used for treatment of lower extremity deformities resulting from osteogenesis imperfecta. Sixteen patients had 56 nails placed in 48 long bones, including 18 revisions. All patients were braced postoperatively. The average duration of follow-up was 4.8 years. Nine patients who were nonambulatory preoperatively walked in braces postoperatively. Despite a high rate of complication, extendable nails provide correction of the angular deformities of osteogenesis imperfecta, decrease fracturing, and allow most previously nonambulatory children to walk.

Management of children and infants with osteogenesis imperfecta (OI) poses difficult decisions for pediatricians, orthopedists, and physiatrists. These children are frequently frail with disabling bone and joint deformities and fractures. In an eight-year cumulative management of 12 children with OI, a comprehensive program included strengthening exercises to the pelvic girdle and lower extremity muscles, in addition to pool exercises and molded seating to support upright posture. Long leg braces were fitted when the children were able to sit unsupported. All 12 were fitted with braces; nine were functional ambulators, and three were home ambulators. Six children required femoral plating or rodding, two of whom subsequently had the metal removed. Lower extremity fractures averaged one and one-half per year prior to bracing for nine children who had fractures. There was 0.83 fracture per year for the ten children who had fractures after bracing. The degree of femoral bowing increased in four, decreased in four, and remained unchanged in four, while the degree of tibial bowing increased in two, decreased in nine, and remained unchanged in one during the observation period. A comprehensive rehabilitation program and long leg bracing with surgical operations on the femur result in a high level of functional activity for children with OI with an acceptable level of risk for fracture.

The results and complications of the use of Bailey-Dubow extensible rods in 28 lower limb bones of 10 patients suffering from osteogenesis imperfecta are reviewed. Twenty-eight operations were for the primary insertion of the rods into the femur or tibia; a further nine operations were needed for the treatment of complications. These complications included 10 instances of proximal migration of the distal end of the rod, one of incorrect placement in the proximal femur, four instances of loosening of a T-piece and three of infection about a rod, two of these being in one child. Most complications arose from technical faults at insertion. The details of technique which have evolved from experience are described. Only one fracture has occurred in a bone after correct placement of a rod. Of the 10 patients, seven of whom had never walked before, seven were able to walk and two others had achieved walking, but were under treatment for complications at the time of review. There was no evidence of damage to growth epiphyses. The greater technical complexity of insertion of Bailey-Dubow rods is well justified by the results obtained when they are correctly applied.