Background: A gene for Larsen syndrome was recently described, and mutations were reported in five cases.Objective: To test whether mutations in this gene, FLNB, could explain the disease in our independent collection of sporadic and dominant Larsen syndrome cases; and to test whether mutations occurred in a non-random pattern.Results: Missense mutations were found in each of five cases. Four of the five were new; one was reported in a sporadic case in the original Larsen syndrome study of five cases. All mutations from the two studies were compiled. Clustered mutations were observed within three filamin B protein domains: the calponin homology 2 domain, repeat 14, and repeat 15. This suggested that as few as five (of the total of 46) coding exons of FLNB could be screened to detect Larsen syndrome mutations. Four of these exons were screened in a sixth (sporadic) case and a previously reported G1691S substitution mutation detected.Conclusions: Mutations in FLNB may be responsible for all cases of Larsen syndrome. They appear to occur in specific functional domains of the filamin B protein. This should simplify diagnostic screening of the FLNB gene. Analyses in larger patient series are warranted to quantify this. The study confirmed the extreme variability in clinical presentation and the presence of unaffected carriers. A molecular screen would be valuable for diagnosis and genetic counselling.

OBJECTIVE:To assess and compare the impact of medication treatments on health-related quality of life (HRQOL), family function, and medical status in children with juvenile idiopathic arthritis (JIA).METHODS:Fifty-seven children diagnosed with JIA were assessed by a pediatric rheumatologist and placed into one of three treatment groups: (1) non-steroidal anti-inflammatory; (2) methotrexate; or (3) steroids via IV methylprednisolone. Questionnaires were administered at baseline and 4-month follow-up. The attending pediatric rheumatologist provided additional medical information.RESULTS:Data document the impact of JIA on HRQOL, particularly on physical and pain domains. Steroid patients experienced improved HRQOL at follow-up relative to other groups, despite reporting more problems with side effects.CONCLUSION:These results demonstrate positive benefits of steroids in treating JIA children, despite the greatest incidence of adverse side effects.

Study Design. A prospective study evaluated orthopedists’ ratings of preoperative and postoperative cosmesis in adolescents undergoing posterior or anterior spinal fusion for idiopathic scoliosis. Measures evaluated how orthopedists rated outcome in relation to patient satisfaction with the surgical result. Summary of Background Data. The reliability of physician-derived data as a method for evaluating scoliosis surgical outcomes has not been sufficiently explored and has not been related to patient satisfaction ratings with the postoperative result. Objectives. The purpose of this study was to determine 1) the intrarater and interrater reliability estimates of orthopedists’ ratings of scoliosis surgical outcomes and 2) the association between orthopedists’ ratings and patient satisfaction ratings with the postoperative cosmesis. Methods. Six orthopedists independently rated preoperative and postoperative color slides for cosmetic deformity in 41 patients with adolescent idiopathic scoliosis. Patients rated their satisfaction with the postoperative cosmesis 5 to 11 months after surgery. Results. The intrarater and interrater reliabilities of orthopedists’ assessments of scoliosis surgical outcomes ranged from fair to poor. Orthopedists’ assessments of postoperative shoulder asymmetry significantly correlated with patient satisfaction ratings of cosmetic appearance following surgical correction of severe curves. Patient satisfaction ratings were unrelated to orthopedists’ ratings of scar appearance, cosmetic deformity, and preoperative to postoperative cosmetic change. Conclusions. Intrarater and interrater reliability estimates were unacceptably low when evaluating spinal surgical outcomes in these 41 patients. Overall, orthopedists’ ratings were not significantly correlated with patient satisfaction ratings of the postoperative result.

Study Design. Patient satisfaction with the cosmetic result of spinal fusion surgery was studied in 42 cases of adolescent idiopathic scoliosis. Neutral or dissatisfied patients were compared with satisfied patients on several physical and psychological characteristics. Objectives. To determine whether adolescents generally report satisfaction with the postoperative appearance of their back after the correction of severe curves and whether preoperative medical and/or psychological factors distinguish between patients who will report satisfaction with the cosmetic surgical result from those who will report neutrality or dissatisfaction. Summary of Background Data. Previous reports emphasize the need for medical outcomes research that evaluates both patient satisfaction and technical success. Patient satisfaction with spinal surgery has largely been evaluated in retrospective studies and most consistently related to postoperative cosmesis and degree of curve correction. Methods. Forty-two adolescents with idiopathic scoliosis without comorbidity, who were 12 years 6 months of age or older, and who did not require both anterior and posterior spinal fusion, were studied preoperatively and postoperatively by physical and psychological measurements. Results. Of patients undergoing surgical correction of severe curves, 73% reported satisfaction with the cosmetic result. Neutral or dissatisfied patients were more likely than satisfied patients to have a lower body mass index (P < 0.05), to be younger in menarcheal status (P < 0.05), and have a King II or King III curve type. Preoperative psychological difficulties (P < 0.05) and unmet expectations regarding the postoperative cosmesis (P < 0.05) were more common among neutral or dissatisfied patients. Conclusions. Most adolescents with idiopathic scoliosis expressed satisfaction with the cosmetic surgical result. Preoperative physical characteristics, psychological difficulties, and unrealistic expectations regarding postoperative cosmesis are associated with patient neutrality or dissatisfaction.

This study aimed to determine treatment preference of various femoral fracture patterns in children by pediatric orthopedists and whether it is practice dependent. In September 1998, members of the Pediatric Orthopedic Society of North America were sun;eyed to determine their current preferences in treating each of four middle one-third femoral fracture patterns in four age groups. Forty-four percent (286/656) of those surveyed responded. For each fracture pattern, operative treatment was increasingly preferred over nonoperative as patient age increased, and the preferred treatments within the operative and nonoperative categories changed significantly as patient age increased. Fourteen specific cases of femoral head avascular necrosis were noted after rigid reamed and unreamed redding. There is a statistically significant trend by pediatric orthopedists to treat older children's femur fractures operatively and younger children's nonoperatively. The consensus treatment is age dependent. The numerous cases of avascular necrosis after rigid redding are a concern.

The incidence and etiology of back pain during orthotic management of idiopathic scoliosis was determined for 303 patients treated from 1980 through 1990 for a minimum of 1 year. All patients denied back pain before orthotic prescription. Thirty-four (11%) patients reported back pain after institution of brace treatment. A family history of scoliosis (p = 0.014) and vigorous sports activities (p < 0.001) were correlated with pain. Seventeen of 34 patients with pain showed >10 degrees of curve progression during bracing, whereas 67 of 269 patients without pain progressed (p = 0.002). Four patients with pain and 11 without were eventually found to have an underlying pathology (spondylolysis/listhesis). No other underlying pathologies were found. Night pain or a left thoracic curve pattern were not correlated with a serious underlying etiology. Back pain occurring after institution of brace treatment for idiopathic scoliosis is often associated with curve progression and is poorly correlated with a serious underlying pathology.

We studied 73 children with chronic or recurrent musculoskeletal pain of > or = 6 weeks' duration. Thirty-six children had no identifiable organic etiology for their pain, with a minimum follow-up of 2 years for ongoing symptoms. Thirty-seven children had an organic etiology for their pain. Use of an Inappropriate Symptom Checklist was helpful in distinguishing between children with chronic pain who were found to have an organic disease and those without an identifiable organic disease. Seventy-seven percent of children with no inappropriate symptoms had an organic diagnosis ultimately made. Conversely, 79% of children with two or more inappropriate symptoms ultimately had no organic diagnosis to explain their pain. Behavioral self-report measures testing could not differentiate between children with chronic pain with or without organic disease. Intervention by a psychologist skilled in pain management was helpful.

STUDY DESIGN:The authors studied 319 patients with adolescent idiopathic scoliosis treated at the same institution with either a Boston brace or a Charleston bending brace.OBJECTIVES:To determine if both orthoses are equally effective in stopping curve progression and preventing the need for surgical correction.SUMMARY OF BACKGROUND DATA:Early reports suggest that the Charleston brace may be comparable to the Boston brace in its effectiveness and that both braces positively influence the natural history of idiopathic scoliosis.METHODS:Skeletally immature (Risser 0, 1, or 2) patients with idiopathic scoliosis who were 10 years old or older at the time of brace prescription, had curves from 25 degrees to 45 degrees, and had no prior treatment were studied retrospectively. All measurements were collected by a single observer, and all patients were followed up to skeletal maturity.RESULTS:The Boston brace is more effective than the Charleston brace, both in preventing curve progression and in avoiding the need for surgery. These findings were most notable for patients with curves of 36 degrees-45 degrees, in whom 83% of the those treated with a Charleston brace had curve progression of more than 5 degrees, compared with 43% of those treated with the Boston brace (p < 0.0001).CONCLUSION:When given the choice between these two orthoses in the treatment of adolescent idiopathic scoliosis, the authors recommend use of the Boston brace. The Charleston brace should be considered only in the treatment of smaller single thoracolumbar or single lumbar curves.

A retrospective study of 2442 patients who had idiopathic scoliosis was performed to determine the prevalence of back pain and its association with an underlying pathological condition. Five hundred and sixty (23 per cent) of the 2442 patients had back pain at the time of presentation, and an additional 210 (9 per cent) had back pain during the period of observation. There was a significant association between back pain and an age of more than fifteen years, skeletal maturity (a Risser sign of 2 or more), post-menarchal status, and a history of injury. There was no association with gender, family history of scoliosis, limb-length discrepancy, magnitude or type of curve, or spinal alignment. At the latest follow-up evaluation, 324 (58 per cent) of the 560 patients who had had back pain at presentation had no additional symptoms. Forty-eight (9 per cent) of the 560 patients who had back pain had an underlying pathological condition: twenty-nine patients had spondylolysis or spondylolisthesis, nine had Scheurmann kyphosis, five had a syrinx, two had a herniated disc, one had hydromyelia, one had a tethered cord, and one had an intraspinal tumor. A painful left thoracic curve or an abnormal neurological finding was most predictive of an underlying pathological condition, although only eight of the thirty-three patients who had such findings were found to have such a condition. When a patient with scoliosis has back pain, a careful history should be recorded, a thorough physical examination should be performed, and good-quality plain radiographs should be made. If this initial evaluation reveals normal findings, a diagnosis of idiopathic scoliosis can be made, the scoliosis can be treated appropriately, and non-operative treatment can be initiated for the back pain. It is not necessary to perform extensive diagnostic studies to evaluate every patient who has scoliosis and back pain.

Study Design. This study compared the reproducibility of three techniques used to measure translation between the occiput and C1 in children with Down syndrome.Objectives. Intraobserver and interobserver variability were computed to determine if there is a reliable way to measure occiput-C1 instability.Summary of Background Data. No studies have been performed comparing measurement techniques in children with Down syndrome.Methods. Powers ratios, basion-axial intervals, and translational anteroposterior motion as described by Wiesel and Rothman were calculated for 60 pairs of flexion-extension lateral cervical radiographs from children with Down syndrome. Calculations were made on two occasions by four reviewers.Results. Mean differences between measurements for two observers were 0.14 for the Powers ratio, 1.3 mm for the Wiesel technique, and 1.8 mm for the basion-axial interval. The 95th percentiles of the differences between measurements for two observers were 0.38 for Powers ratios, 3.5 mm for the Wiesel technique, and 5.3 mm for the basion-axial interval.Conclusions. Measurement of atlanto-occipital translation by any of these methods is not reproducible. Although the technique by Wiesel and Rothman is the easiest to apply, confirmation of instability with magnetic resonance imaging should guide management.

We performed a retrospective study of the long-term results of posterior instrumentation and arthrodesis of the spine in forty-three patients who had idiopathic scoliosis and a Risser grade of 0 at the time of the operation. The average age of the patients was 12.4 years (range, 6.7 to 15.5 years) at the time of the operation. The triradiate cartilages were open in twenty-three patients and closed in twenty. At the time of the latest follow-up evaluation (average duration of follow-up, four years; range, two to eleven years), seventeen patients had a Risser grade of 5; twenty-two, 4; two, 3; one, 2; and one, 0. The crankshaft phenomenon, a progressive deformity resulting from continued growth of the anterior aspect of the spine after posterior arthrodesis, was seen in only one patient who had closed triradiate cartilages and in ten patients who had open triradiate cartilages (p = 0.004). The most common radiographic finding was a progressive rib-vertebra angle difference, which increased more than 10 degrees in seven of the eleven patients who had the crankshaft phenomenon. The mean increase in these eleven patients was 22 degrees, compared with no increase in the thirty-two other patients (p < 0.0001). Open triradiate cartilages (r = 0.58, p = 0.0001) and a younger age at the time of the operation (p < 0.0001) were predictive of the amount of progression as a result of the crankshaft phenomenon. In patients who had open triradiate cartilages, less skeletal maturity was also predictive of progression as a result of the crankshaft phenomenon (r = -0.72, p = 0.0002).

The prevalence of curve progression was evaluated in 210 boys who had idiopathic scoliosis. A minimum age of eight years, a deformity of at least 10 degrees, and radiographic follow-up of one year or progression of the curve within the first year of follow-up were the criteria for inclusion in the study. Of the 210 patients, sixty-eight (32 per cent) had progression of 10 degrees or more. Four of the five patients who had had an initial curve of 50 degrees or more subsequently had a spinal arthrodesis. The risk of progression was significantly greater for patients who were at an earlier Risser stage (p < 0.002) and for those who were younger (p < 0.005). The risk of progression was also greater for patients who had had a larger curve at the time of presentation; of the sixty-three boys for whom the Risser grade was 1, 2, 3, 4, or 5 when they were first seen and who had a curve of 25 degrees or more, twenty (32 per cent) had progression, compared with only two (5 per cent) of the thirty-eight who had a Risser grade of 1, 2, 3, 4, or 5 and a curve of 24 degrees or less. Of the thirty-four patients for whom the Risser grade was 4 when they were first seen, five (15 per cent) had progression.(ABSTRACT TRUNCATED AT 250 WORDS)

To determine the predictive value of a new classification system for Legg-Perthes, 93 hips in 86 patients with radiographic follow-up to maturity were reviewed. All patients were treated by bracing at the Texas Scottish Rite Hospital from 1970 to 1980. Hips were classified during the fragmentation stage of disease into three groups based on radiolucency in the lateral pillar of the femoral head. Final radiographs were reviewed at skeletal maturity, and the outcome was determined according to the Stulberg classification. Group A had a uniformly good outcome (100% Stulberg I and II results); Group B had a good outcome in patients who were < 9 years at onset (92% Stulberg I and II, 8% Stulberg III results), but a less favorable outcome in patients who were > 9 years at onset (30% Stulberg II, 50% Stulberg III, and 20% Stulberg IV results). In Group C, the majority of femoral heads became aspherical in both age groups (29% Stulberg II, 52% Stulberg III, and 19% Stulberg IV results). The group C hips also had a longer duration of fragmentation and reossification stages. Members of the Legg-Perthes study group agreed 78% of the time when applying the classification to unknown radiographs. The classification group was a stronger determinant than age of onset in predicting final outcome. This classification system is easy to apply during the active stage of the disease and has a high correlation in predicting the amount of flattening of the femoral head at skeletal maturity. When combined with age at onset, it can be used to predict the natural history of the disease and evaluate various forms of treatment.