Life span care for patients with skeletal dysplasia: A roadmap.

Patients with skeletal dysplasias usually experience health related problems in different parts and systems of the body. Therefore, they face challenges in multiple domains of functioning and health. To address these different domains, interdisciplinary care should be the standard for these patients. The basic algorithm of interdisciplinary care can be similar for patients with different skeletal dysplasias, as many of the problems and needs are generic within different age groups. With increased age the domains in which patients with skeletal dysplasia face challenges will change and the focus and frequency of the interdisciplinary care should change accordingly. Thorough understanding of the specific characteristics of different skeletal dysplasias is required to create an individualized efficient interdisciplinary screening and care program. This paper presents the current structure and rationale of the interdisciplinary screening and care program of the skeletal dysplasia expert center of the University Medical Center Utrecht in the Netherlands. It is presented here, tailored to osteogenesis imperfecta, but the structure of the program is generic for all skeletal dysplasias.

Fractures in Osteogenesis Imperfecta: Pathogenesis, Treatment, Rehabilitation and Prevention.

Fractures in patients with osteogenesis imperfecta (OI) are caused by a decreased strength of bone due to a decreased quality and quantity of bone matrix and architecture. Mutations in the collagen type 1 encoding genes cause the altered formation of collagen type I, one of the principal building blocks of bone tissue. Due to the complexity of the disease and the high variation of the clinical problems between patients, treatment for these patients should be individually tailored. In general, short immobilization periods with flexible casting material, use of intramedullary implants, and simultaneous deformity correction are preferred. Multidisciplinary care with a broad view of the support needed for the patient and his/her living environment is necessary for the optimal rehabilitation of these patients. Increasing bone strength with exercise, medication, and sometimes alignment surgery is generally indicated to prevent fractures.

A roadmap to surgery in osteogenesis imperfecta: results of an international collaboration of patient organizations and interdisciplinary care teams.

Background and purpose - Involvement of patient organizations is steadily increasing in guidelines for treatment of various diseases and conditions for better care from the patient's viewpoint and better comparability of outcomes. For this reason, the Osteogenesis Imperfecta Federation Europe and the Care4BrittleBones Foundation convened an interdisciplinary task force of 3 members from patient organizations and 12 healthcare professionals from recognized centers for interdisciplinary care for children and adults with osteogenesis imperfecta (OI) to develop guidelines for a basic roadmap to surgery in OI.Methods - All information from 9 telephone conferences, expert consultations, and face-to-face meetings during the International Conference for Quality of Life for Osteogenesis Imperfecta 2019 was used by the task force to define themes and associated recommendations.Results - Consensus on recommendations was reached within 4 themes: the interdisciplinary approach, the surgical decision-making conversation, surgical technique guidelines for OI, and the feedback loop after surgery.Interpretation - The basic guidelines of this roadmap for the interdisciplinary approach to surgical care in children and adults with OI is expected to improve standardization of clinical practice and comparability of outcomes across treatment centers.

Natural course of scoliosis and lifetime risk of scoliosis surgery in spinal muscular atrophy.

OBJECTIVE: To investigate the natural course of scoliosis and to estimate lifetime probability of scoliosis surgery in spinal muscular atrophy (SMA). METHODS: We analyzed cross-sectional data from 283 patients from our population-based cohort study. Additional longitudinal data on scoliosis progression and spinal surgery were collected from 36 consecutive patients who received scoliosis surgery at our center. RESULTS: The lifetime probability of receiving scoliosis surgery was ≈80% in SMA types 1c and 2. Patients with type 2 who only learned to sit (type 2a) were significantly younger at time of surgery than those who learned to sit and stand (type 2b). The lifetime risk of surgery was lower in type 3a (40%) and strongly associated with age at loss of ambulation: 71% in patients losing ambulation before 10 years of age vs 22% losing ambulation after the age of 10 years (p = 0.005). In type 3a, preserving the ability to walk 1 year longer corresponded to a 15% decrease in lifetime risk of scoliosis surgery (hazard ratio 0.852, p = 0.017). Scoliosis development was characterized by initial slow progression, followed by acceleration in the 1.5- to 2-year period before surgery. CONCLUSION: The lifetime probability of scoliosis surgery is high in SMA types 1c and 2 and depends on age at loss of ambulation in type 3. Motor milestones such as standing that are not part of the standard classification system are of additional predictive value. Our data may act as a reference to assess long-term effects of new SMA-specific therapies.