Angela Caudill

Long-Term Outcome Evaluation in Young Adults Following Clubfoot Surgical Release

Background The aim of this study was to evaluate the long-term outcome of a comprehensive surgical release for congenital talipes equinovarus (CTEV). Methods Gait, strength, segmental foot motion, and outcomes questionnaire data were collected on 24 adults (21.8±2.3 y) who were surgically treated for CTEV as infants. These data were statistically compared with of 48-age group matched controls (23.2±2.4 y). Results The clubfoot group was functional in activities of daily living, although most patients did experience foot pain after a day of typical activities, such as walking, standing, using stairs and doing exercise. Lower extremity gait kinematics was similar to the control group. There were differences in segmental foot motion with the hindfoot in a more plantarflexed position relative to the tibia and the forefoot dorsiflexed, and adducted relative to the hindfoot. Ankle plantarflexion and inversion strength and range of motion was reduced in the clubfoot group in association with an increase in hip power generation during the preswing and initial swing phases of the gait cycle. Conclusions Surgical correction of CTEV was successful in providing a functional plantigrade foot as the patients reached adulthood. However, limitations included foot pain, limited foot range of motion, and weakness. Level of Evidence Level III.

Ankle strength and functional limitations in children and adolescents with type I osteogenesis imperfecta.

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.

Behavior of scoliosis during growth in children with osteogenesis imperfecta.

BACKGROUND Spinal deformities are common in patients with osteogenesis imperfecta, a heritable disorder that causes bone fragility. The purpose of this study was to describe the behavior of spinal curvature during growth in patients with osteogenesis imperfecta and establish its relationship to disease severity and medical treatment with bisphosphonates. METHODS The medical records and radiographs of 316 patients with osteogenesis imperfecta were retrospectively reviewed. The severity of osteogenesis imperfecta was classified with the modified Sillence classification. Serial curve measurements were recorded throughout the follow-up period for each patient with scoliosis. Regression analysis was used to determine the effect of disease severity (Sillence type), patient age, and bisphosphonate treatment on the progression of scoliosis as measured with the Cobb method. RESULTS Of the 316 patients with osteogenesis imperfecta, 157 had associated scoliosis, a prevalence of 50%. Scoliosis prevalence (68%) and mean progression rate (6° per year) were the highest in the group of patients with the most severe osteogenesis imperfecta (modified Sillence type III). A group with intermediate osteogenesis imperfecta severity, modified Sillence type IV, demonstrated intermediate scoliosis values (54%, 4° per year). The patient group with the mildest form of osteogenesis imperfecta, modified Sillence type I, had the lowest scoliosis prevalence (39%) and rate of progression (1° per year). Early treatment-before the patient reached the age of six years-of type-III osteogenesis imperfecta with bisphosphonate therapy decreased the curve progression rate by 3.8° per year, which was a significant decrease. Bisphosphonate treatment had no demonstrated beneficial effect on curve behavior in patients with other types of osteogenesis imperfecta or in patients of older age. CONCLUSIONS The prevalence of scoliosis in association with osteogenesis imperfecta is high. Progression rates of scoliosis in children with osteogenesis imperfecta are variable, depending on the Sillence type of osteogenesis imperfecta. High rates of scoliosis progression in type-III and type-IV osteogenesis imperfecta contrast with a benign course in type I. Bisphosphonate therapy initiated before the patient reaches the age of six years can modulate curve progression in type-III osteogenesis imperfecta.

Gait characteristics and functional assessment of children with Type I Osteogenesis Imperfecta

The purpose of this study was to improve the evaluation process of children with type I Osteogenesis Imperfecta (OI) by providing a quantitative comparison of gait and selected functional assessments to age‐matched controls. A 14‐camera Vicon Motion Analysis System was used for gait analysis along with selected functional assessments (Pediatric Outcomes Data Collection Instrument [PODCI], Functional Assessment Questionnaire [FAQ], Faces Pain Scale‐Revised [FPS‐R]) conducted on 10 subjects with type I OI and 22 age‐matched healthy controls. The results of the OI group demonstrated abnormal gait parameters including increased double support, delayed foot off, reduced ankle range of motion and plantarflexion during third rocker, along with greater ankle power absorption during terminal stance and reduced ankle power generation during push off. The functional assessment scores of the OI group were similar to the control group for basic mobility and function, but were lower than their peers in the sports and physical function category. The evaluation of individuals with OI by means of gait analysis and selected functional assessments, along with an accurate biomechanical model of the lower extremities, is proposed to better understand and predict OI disability and improve quality of life.

Serial Derotational Casting in Idiopathic and Non-Idiopathic Progressive Early-Onset Scoliosis

INTRODUCTION Serial derotational casting has been used as a definitive treatment or as delaying strategy in progressive idiopathic (IS) and non-idiopathic (NIS) early-onset scoliosis (EOS). METHODS Retrospective chart and radiographic review of patients who underwent serial casting for progressive EOS between 2005 and 2012 at a single institution. RESULTS A total of 74 consecutive patients entered serial cast treatment. Twenty-eight were currently being casted, 30 completed cast treatment and were converted to thoracolumbosacral orthosis (TLSO), 9 were treated surgically, 6 were lost to follow-up, and 1 had no further treatment. The researchers diagnosed IS in 41 patients; 33 had NIS. At presentation the IS group had an average Cobb angle (CA) of 49° and a rib vertebral angle difference (RVAD) of 37°. The NIS group had a CA of 51° (p = .69) and RVAD of 37° (p = .94). In patients currently being casted, 19 IS patients had a decreased CA, from 47° to 27°. The 9 NIS patients had a decreased CA, from 62° to 57° (p = .0002). Cobb angle improvement was significantly better in IS (p = .0005). In the TLSO group the 17 IS patients had a decreased average CA, from 46° to 18°, after serial casting and the 13 NIS patients decreased CA from 42° to 32°. Patients with IS had better improvement in CA than the NIS group (p < .001). At last follow-up, this was reduced to 11° in the IS group and maintained at 32° in the NIS. In the IS group, 5 of 41 patients were converted to growth constructs, and 4 of 26 in the NIS group. Casting initiated before age 2 years yielded better curve correction for IS (p < .01) compared with NIS. CONCLUSIONS Progressive idiopathic scoliosis patients had better curve correction with casting than NIS patients. Casting in IS patients before age 24 months yielded better curve correction. Patients who required surgery had a higher age and Cobb angle at presentation than those who transitioned to a TLSO. The surgical group was observed for a similar duration of time and there was no significant statistical difference. Although RVAD is a predictor of progression in infantile IS, it did not show a predictive value in the response to casting of either the IS or NIS groups.

Mobility in Osteogenesis Imperfecta: A Multicenter North American Study

Background Osteogenesis imperfecta (OI) is a genetic connective tissue disorder characterized by increased bone fragility and recurrent fractures. The phenotypic severity of OI has a significant influence on the ability to walk but little is known about the ambulatory characteristics, strength, or functional abilities in individuals with OI, especially in the more severe forms. To advance clinical research in OI, the Linked Clinical Research Centers, network of clinical centers in North America with significant experience in treating patients with OI, was established in 2009. The purpose of this work was to characterize mobility in OI using standard clinical assessment tools. and determine if any patient characteristics could be used to predict mobility outcomes. Methods Data were collected at five clinical sites and included age, gender, ethnicity, height, weight, use of assistive device, and bisphosphonate use and mobility metrics (age at first walk, Gillette Functional Assessment Questionnaire, Functional Mobility Scale, and distance walked in the 6 minute walk test). Linear mixed models were developed to explore the relationships between subject demographics and mobility metrics. Results The study identified 491 individuals age 3 and older. In general, the results showed minor limitations in the type I 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 metrics. Relationships with mobility and bisphosphonates varied with OI type and whether oral or IV was used. Conclusion This paper is the most comprehensive report of mobility in individuals with OI to date. These results are vital to understanding the 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 the prognosis for mobility.