Lori A. Karol

Pulmonary Function Following Early Thoracic Fusion in Non-Neuromuscular Scoliosis

BACKGROUND While early spinal fusion may halt progressive deformity in young children with scoliosis, it does not facilitate lung growth and, in certain children, it can result in thoracic insufficiency syndrome. The purpose of this study was to determine pulmonary function at intermediate-term follow-up in patients with scoliosis who underwent thoracic fusion before the age of nine years. METHODS Patients who had thoracic spine fusions before the age of nine years with a minimum five-year follow-up underwent pulmonary function testing. Forced vital capacity, forced expiratory volume in one second, and maximum inspiratory pressure were measured and compared with age-matched normal values. Patients with neuromuscular disease, skeletal dysplasias, or preexisting pulmonary disease were excluded, while those with rib malformations were included. The relationships between forced vital capacity and age at the time of surgery, length of follow-up, extent of the fusion, proximal level of the fusion, and revision surgery were studied. RESULTS Twenty-eight patients underwent evaluation. Twenty patients had congenital scoliosis, three had idiopathic scoliosis, three had scoliosis associated with neurofibromatosis, one had congenital kyphosis, and one had syndromic scoliosis. Seventeen patients had one spinal surgery, while eleven had additional procedures. The average age of the patients was 3.3 years at the time of surgery and 14.6 years at the time of follow-up. The average extent of the thoracic spine fused was 58.7%. The average forced vital capacity was 57.8% of age-matched normal values, and the average forced expiratory volume in one second was 54.7%. The forced vital capacity was <50% of normal in twelve of the twenty-eight patients, and two required respiratory support, implying that substantial restrictive lung disease was present. With the numbers studied, no significant correlation could be detected between the age at the time of fusion or the length of follow-up and pulmonary function. The extent of the spine fused correlated with the forced vital capacity (p = 0.01, r = -0.46). Fusions in the proximal aspect of the spine were found to be associated with diminished pulmonary function as eight of twelve patients with a proximal fusion level of T1 or T2 had a forced vital capacity of <50%, but only four of sixteen patients with a fusion beginning caudad to T2 had a forced vital capacity of <50% (p = 0.0004, r = 0.62). CONCLUSIONS Patients with proximal thoracic deformity who require fusion of more than four segments, especially those with rib anomalies, are at the highest risk for the development of restrictive pulmonary disease. Pulmonary function tests should be performed for all patients who have an early fusion. The pursuit of alternative procedures to treat early spinal deformity is merited.

A Comparison of Two Nonoperative Methods of Idiopathic Clubfoot Correction: The Ponseti Method and the French Functional (Physiotherapy) Method

BACKGROUND In the treatment of idiopathic clubfeet, the Ponseti method and the French functional method have been successful in reducing the need for surgery. The purpose of this prospective study was to compare the results of these two methods at one institution. METHODS Patients under three months of age with previously untreated idiopathic clubfeet were enrolled. All feet were rated for severity prior to treatment. After both techniques had been described to them, the parents selected the treatment method. Outcomes at a minimum of two years were classified as good (a plantigrade foot with, or without, a heel-cord tenotomy), fair (a plantigrade foot that had or needed to have limited posterior release or tibialis anterior transfer), or poor (a need for a complete posteromedial surgical release). Two hundred and sixty-seven feet in 176 patients treated with the Ponseti method and 119 feet in eighty patients treated with the French functional method met the inclusion criteria. RESULTS The patients were followed for an average of 4.3 years. Both groups had similar severity scores before treatment. The initial correction rates were 94.4% for the Ponseti method and 95% for the French functional method. Relapses occurred in 37% of the feet that had initially been successfully treated with the Ponseti method. One-third of the relapsed feet were salvaged with further nonoperative treatment, but the remainder required operative intervention. Relapses occurred in 29% of the feet that had been successfully treated with the French functional method, and all required operative intervention. At the time of the latest follow-up, the outcomes for the feet treated with the Ponseti method were good for 72%, fair for 12%, and poor for 16%. The outcomes for the feet treated with the French functional method were good for 67%, fair for 17%, and poor for 16%. CONCLUSIONS Nonoperative correction of an idiopathic clubfoot deformity can be maintained over time in most patients. Although there was a trend showing improved results with use of the Ponseti method, the difference was not significant. In our experience, parents select the Ponseti method twice as often as they select the French functional method.

Early definitive spinal fusion in young children: what we have learned.

BackgroundEarly-onset scoliosis, when left untreated, leads to severe deformity. Until the last decade, treatment of progressive curves in young children often consisted of definitive spinal fusion. The recognition of thoracic insufficiency syndrome associated with definitive early fusion has led to the development of new surgical techniques developed to preserve spinal and thoracic growth in young patients with progressive scoliosis.Questions/purposesWe asked: (1) Does early definitive fusion arrest progression of spinal deformity? To what extent does early definitive spinal fusion influence (2) pulmonary function and (3) thoracic growth?MethodsA Medline search of the published literature on early-onset scoliosis, congenital scoliosis, and infantile scoliosis between 2008 and 2010 was performed on spinal fusion for early-onset scoliosis, focusing on studies reporting pulmonary function at followup.ResultsSpinal deformity is apparently not well controlled by early fusion since revision surgery has been required in 24% to 39% of patients who underwent presumed definitive fusion in early childhood. Restrictive pulmonary disease, defined as forced vital capacity less than 50% of normal, occurs in 43% to 64% of patients who undergo early fusion surgery with those children who have extensive thoracic fusions and whose fusions involve the proximal thoracic spine at highest risk. Thoracic growth after early surgery is an average of 50% of that seen in children with scoliosis who do not have early surgery. Diminished thoracic spinal height correlates with decreased forced vital capacity.ConclusionsThe literature does not support routine definitive fusion of thoracic spinal deformity at an early age in children with scoliosis.Level of Evidence Level IV, therapeutic study. See Guidelines for Authors for a complete description of levels of evidence.

Gait analysis of children treated for clubfoot with physical therapy or the Ponseti cast technique.

BACKGROUND Currently, clubfoot is initially treated with nonoperative methods including the Ponseti cast technique and the French functional physical therapy program. Our goal was to evaluate the function of children treated with these techniques. METHODS We reviewed the cases of 182 patients with idiopathic clubfoot (273 feet) who were initially treated nonoperatively. Seventy-seven patients (119 feet) were excluded because they had either received a combination of nonoperative treatments or had undergone surgery prior to testing. Gait analysis was performed when the children were approximately two years of age. Temporal and kinematic data were classified as abnormal if they were more than one standard deviation from normal. RESULTS Gait analysis was performed on 105 patients (fifty-six treated with casts and forty-nine treated with physical therapy) with 154 involved feet (seventy-nine treated with casts and seventy-five treated with physical therapy). These patients were an average of two years and three months of age, and their initial Diméglio scores ranged between 10 and 17. No significant differences in cadence parameters were found between the two groups. The rate of normal kinematic ankle motion in the sagittal plane was higher in the group treated with physical therapy (65% of the feet) than it was in the group treated with the Ponseti cast technique (47%) (p = 0.0317). More children treated with physical therapy walked with knee hyperextension (37% of the feet) (p < 0.0001), an equinus gait (15%) (p = 0.0051), and footdrop (19%) (p = 0.0072); only one patient treated with casts walked with an equinus gait, and only three demonstrated footdrop. In contrast, more of the patients in the cast-treatment group demonstrated excessive stance-phase dorsiflexion (48% of the feet) (p < 0.0001) and a calcaneus gait (10%). More feet in the physical therapy group had an increased internal foot progression angle (44% compared with 24% in the cast-treatment group; p = 0.0144) and increased shank-based foot rotation (73% compared with 57% in the cast-treatment group; p = 0.05). CONCLUSIONS While the rate of normal kinematic ankle motion in the sagittal plane was 65% in the group treated with physical therapy, the gait abnormalities that were seen in that group were characterized by mild equinus and/or footdrop. The rate of normal kinematic ankle motion in the sagittal plane was 47% in the cast-treatment group, but the most common gait abnormality in this group was mildly increased dorsiflexion in the stance phase. The rates of calcaneus gait and equinus gait were <or=15% in each nonoperative group. The differences between the physical therapy and cast-treatment groups may, in part, be the result of the percutaneous Achilles tendon lengthening that is performed as part of the Ponseti cast technique but not as part of the physical therapy program.

Scoliosis in patients with Duchenne muscular dystrophy.

Despite recent research developments, Duchenne muscular dystrophy remains a fatal neuromuscular disease, affecting two to three boys in 10,000. It is an inherited X-linked recessive condition caused by a frame-shift mutation in the dystrophin gene at the Xp21.2 locus of the X chromosome1. Dystrophin is a large cell-membrane protein involved in calcium transport in the muscle cell. Boys with Duchenne muscular dystrophy have an absolute absence of dystrophin, leading to deterioration of the muscle cells and replacement with fibrofatty tissue2. This is in contrast to Becker muscular dystrophy, in which less disruptive mutations that do not result in a frame shift lead to production of variable amounts of a smaller, genetically abnormal dystrophin protein3,4. Duchenne muscular dystrophy is highly suspected in boys who have a markedly elevated serum creatine phosphokinase level; in two-thirds of such patients, the diagnosis can be confirmed by genetic testing. Approximately two-thirds of affected patients have large deletions or duplications that can be detected with use of the multiplex polymerase chain reaction and Southern blot techniques5. Detection of point mutations in the remaining one-third of patients is more difficult. In patients without detectable mutations, muscle biopsy with dystrophin analysis is necessary for diagnosis6,7. Staining of muscle biopsy specimens with antidystrophin antibodies in patients with Duchenne muscular dystrophy reveals a complete lack of staining of sarcolemma, whereas specimens from patients with Becker muscular dystrophy do have enough dystrophin present so that partial staining of the sarcolemma is seen2. The clinical course of weakness in patients with Duchenne muscular dystrophy is one of relentless progression. Death from pulmonary or cardiac compromise occurs in the second or third decade of life8. The age of onset of scoliosis in boys with Duchenne …

Plantar Pressures Following Ponseti and French Physiotherapy Methods for Clubfoot

Background Recent trends have led to interest in nonoperative treatments for clubfoot (Ponseti casting and French Physiotherapy). Current studies show good sagittal kinematic motion after both treatments in the young child, but changes in plantar loading after these treatments have not yet been reported. Methods Pedobarograph data were collected with the Emed System on 151 clubfeet, treated with either Cast (79 feet) or physiotherapy (PT, 72 feet), at the age of 2 years. Medial and lateral differences in plantar pressures, contact area, and contact time, were assessed in the hindfoot, midfoot, and forefoot. An assessment of forefoot adductus was made, while the center of the pressure line was tracked both medially and laterally. Seventeen controls were used for comparison. Results When comparing Cast feet with PT feet, most differences in plantar pressures were found in the hindfoot and medial midfoot. Peak pressure, maximum force, and pressure time integral were all found to be decreased in the medial hindfoot after PT compared with casting. Maximum force was also less in the lateral hindfoot and peak pressure was less in the medial midfoot for the PT feet compared with the Cast feet. When compared with controls, both Cast and PT feet had increased pressure, force, contact time, contact area, and pressure time integral in the lateral midfoot, whereas the same measures were all significantly decreased in the first metatarsal region. Forefoot adductus was present in both groups compared with controls. The center of the pressure line was significantly displaced to the lateral side of the foot in both groups; however, when assessing medial displacement, only the PT feet had significantly less medial distribution compared with control feet. Conclusion Pedobarography illustrates residual pressure differences during gait in children with nonoperatively treated clubfeet. These data provide a more detailed description of dynamic foot loading and residual deformity than sagittal plane kinematics alone. Level of Evidence Therapeutic Level II

The effect of scoliosis fusion on spinal motion : A comparison of fused and nonfused patients with idiopathic scoliosis

Study Design. Movement analysis of spinal motion. Objective. To compare spinal motion among females with normal spines, those with idiopathic scoliosis who had not had spinal fusion, and those who had undergone fusion for idiopathic scoliosis. Summary of Background Data. Previous reports have documented loss of spinal motion following fusion for idiopathic scoliosis in adolescents and adults. To our knowledge, comparison to control groups both with and without scoliosis that have not had spinal fusions has not been performed to date. Methods. A total of 91 females between the ages of 15 and 28 years underwent computerized movement analysis. There were 34 fused patients, 32 unfused patients, and 25 healthy controls. The fused patients were divided into 3 groups: (1) 21 patients who had thoracic fusions that extended distally to T11, T12, or L1; (2) 6 patients with thoracic fusions ending at L2; and (3) 7 patients with thoracolumbar or lumbar fusions extending to L3 or L4. Marker triads were placed at C7–T1, T12–L1, and on the pelvis. Forward bend, extension, and left and right lateral bend were measured and divided into thoracic and lumbar motion. Results. There was no difference in any motion between the control and unfused groups. There was overall 25% less total spinal motion in the surgical groups compared to the unfused group. Patients who had thoracic fusions had diminished thoracic motion, especially lateral bending, whereas those who had lumbar fusions had the least lumbar motion, particularly on forward bend and lateral bend maneuvers. There was no compensatory hypermobility of the unfused segments in the surgical group. Conclusions. Diminished spinal motion can be measured in patients who have had spinal fusions. Although stiffness in the operated curves should be expected, compensatory hypermobility in the unfused segments does not occur, resulting in a net loss of flexibility compared to controls.

Friedreich's ataxia and scoliosis: the experience at two institutions.

Purpose: Friedreichs ataxia is a genetically transmitted, progressive spinocerebellar degenerative disease characterized by ataxia. The purpose of this study is to evaluate the demographics, progression, nonoperative, and operative treatment of spinal deformities in patients with Friedreichs ataxia at 2 tertiary pediatric orthopaedic hospitals. Methods: After institutional review board approval, chart review of Friedreichs ataxia patients identified those having scoliosis. Demographic data, length of follow-up, brace treatment, operative treatment, and complications were determined. Radiographic review was also performed. Results: Seventy-seven patients were identified as having Friedreichs ataxia, of which 49 (63%) were diagnosed with scoliosis. Twenty-seven were male; 22 were female. Mean age at diagnosis of scoliosis was 12.8 years (4.9-20 years). Mean follow-up was 3.7 years (0-13 years). There were 16 (33%) double major curves, with 8 (22%) of the thoracic curves being left sided. Hyperkyphosis was present in 12 (24.5%). Twenty-four (49%) of patients progressed ≥6 degrees. Using a chi-square analysis, there was no association, with a curve magnitude of 10 degrees before the age of 10 years and progression of the curve (P = 0.4386). Ten (20%) patients were treated in braces, with average progression in brace of 15 (0-44) degrees. Sixteen (33%) patients were treated with spinal fusion (15 posterior spinal fusion and 1 anterior spinal fusion). Thirteen (81%) of 16 patients who underwent operative intervention were wheelchair dependent. Somatosensory evoked potentials monitoring was attempted in 11 patients but was effective in only 1. Immediate postoperative correction averaged 49% in the thoracic spine (24%-87%) and 51% in the lumbar spine (26%-82%). This correction decreased to 39% in the thoracic (−22% to 85 %) and 30% in the lumbar spine (−35% to 82%) at final follow-up. The average postoperative follow-up was 3.6 years (2-6.5). One patient (6.2%) developed an infection and was the only patient who underwent reoperation. Conclusions: Scoliosis in Friedreichs ataxia is common (63%). Curve patterns are variable and do not necessarily resemble idiopathic curves. Although few patients were braced, results were poor. Fusion using modern segmental constructs was effective in creating substantial intraoperative correction and maintaining correction postoperatively. SSEP monitoring was usually ineffective, so preparation for a wake-up test is recommended. Significance: Patients with Friedreichs ataxia need to be carefully screened for scoliosis and counseled about the high rate of surgical fusion. Using modern implants, correction can be achieved and maintained.

Musculoskeletal manifestations of Sanfilippo Syndrome (mucopolysaccharidosis type III).

Background The most pronounced symptom in mucopolysaccharidosis type III (MPS III, Sanfilippo Syndrome) is the severe neurocognitive deterioration of the central nervous system. The effects of MPS III on the musculoskeletal system are less severe than those caused by other forms of MPS, however, it is our experience that many families seek orthopaedic attention for perceived musculoskeletal discomfort, particularly about the hip and spine. The purpose of this study is to report musculoskeletal findings in a case series of patients with MPS III. Methods This study represents a retrospective case series of all records available from 2 institutions on patients with MPS III. Chart and radiographic review was performed and outcomes tabulated. Our hypotheses are: (1) Musculoskeletal abnormalities are prevalent in children with MPS III and (2) Musculoskeletal deformities in children with MPS III may require surgical intervention. Results Eighteen patients were identified (10 female and 8 male) with an average age of 10.3 years. Three had significant scoliosis (21 to 99 degrees) and 2 others had L1 hypoplasia. Four patients had osteonecrosis of the femoral heads. One patient required a carpal tunnel release, and another a trigger thumb release. There were no cases of cervical instability. Conclusions In our study with these patients, we have observed several unreported musculoskeletal manifestations of MPS III. Osteonecrosis of the hips can be a source of severe discomfort for these children. Although uncommon, operative intervention for orthopaedic conditions is sometimes warranted. Operative indications in this cohort include progressive scoliosis of large magnitude, carpal tunnel syndrome, and trigger digits. Level of Evidence Level IV; case series.

Effect of amputation level on energy expenditure during overground walking by children with an amputation.

BACKGROUND The oxygen cost of walking by adults with an amputation has been well described, but few studies have focused on this parameter in children who have had an amputation. Children with a transtibial amputation have been reported to maintain walking speed at a 15% higher oxygen cost than able-bodied children. The purpose of this study was to determine if the level of amputation in children has a differential impact on the self-selected speed of walking and the oxygen cost, and how the performance of these children compares with that of a group of able-bodied children. METHODS Seventy-three children who had had an amputation participated in this study. Oxygen consumption was measured with a Cosmed K4b2 oxygen analysis telemetry unit (Rome, Italy) as the participants walked overground for ten minutes at a self-selected speed. One minute of steady-state data were reduced, averaged, and standardized to control values. Children with a unilateral amputation were grouped according to the level of the amputation; there were twenty-nine Syme, thirteen transtibial, fourteen knee disarticulation, five transfemoral, and five hip disarticulation amputations. Seven children had had a bilateral amputation, and they were considered as a separate group. Comparisons were made among the five amputation groups and between all children who had undergone amputation and control subjects. The variables that were analyzed were resting VO(2) rate (mL/kg/min), resting heart rate (beats per minute [bpm]), walking VO(2) rate (mL/kg/min), walking VO(2) cost (mL/kg/m), walking heart rate (bpm), and self-selected walking velocity (m/min). RESULTS Unilateral transfemoral and hip disarticulation amputations resulted in significantly reduced walking speed (80% and 72% of normal, respectively) and increased VO(2) cost (151% and 161% of normal, respectively), while the heart rate was significantly increased in the hip disarticulation group (124% of normal). Compared with the controls, the children with a bilateral amputation walked significantly slower (87% of normal), with an elevated heart rate (119% of normal) but a similar energy cost. Children with a Syme amputation, transtibial amputation, or knee disarticulation walked with essentially the same speed and oxygen cost as did normal children in the same age group. CONCLUSIONS Children with an amputation through the knee or distal to the knee were able to maintain a normal walking speed without significantly increasing their energy cost. Only when the amputation is above the knee do children walk significantly slower and with an increased energy cost.