Transition of Caregiver Perceptions after Pediatric Neuromuscular Scoliosis Surgery.

Introduction: Spinal fusion for children with neuromuscular scoliosis has been known to improve sitting balance and quality of life as well as for high caregiver satisfaction. However, most studies performed were single surveys, and it remains unclear whether high satisfaction levels are maintained. Thus, in this article, we report the short- and medium-term improvements in caregiver standing assessment after neuromuscular scoliosis surgery in children with Gross Motor Function Classification System (GMFCS) level IV or V. Methods: In total, 18 patients with GMFCS levels IV and V were included in this study. The underlying diseases were typical cerebral palsy in 12 cases, chromosomal abnormalities in 5 cases, and congenital myopathy in 1 case. The median age at the time of surgery was 14.5 years. The medians for the first and second follow-up surveys were after 1.4 and 5.9 years, respectively. All the patients had undergone posterior spinal fusion, whereas 12 had undergone pelvic fixation. These patients were assessed using a caregiver questionnaire, in addition to patient demographic data and radiographic assessments. Results: The median BMI was 15.4 kg/m2 preoperatively, 16.6 kg/m2 at the first survey, and 17.1 kg/m2 at the second survey. The main Cobb angles were 97.5°, 36.5°, and 37.0° and the spino-pelvic obliquity angles were 22.5°, 6.0°, and 6.5° preoperatively, at the first survey and at the second survey, respectively. In the questionnaire, most domains were rated similarly in the first and second surveys, but the ratings for the "children's QOL" and "digestion and defecation" domains were noted to increase, while that for the "transfer" and "satisfaction with treatment" domains have decreased. Conclusions: Neuromuscular scoliosis surgery in children has been associated with extremely high treatment satisfaction in the early postoperative period. However, some caregivers showed a decline in the "transfer" and "treatment satisfaction" domains over time.

Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita.

Spondyloepiphyseal dysplasia congenita (SEDC) is a multisystemic skeletal disorder caused by pathogenic variants in COL2A1. Here, we report the genotype-phenotype correlations in five Japanese patients with SEDC based on their clinical and radiological findings. All five patients had novel missense variants resulting in glycine substitutions (G474V, G543E, G567S, G594R, and G1170R). Genetic testing is important for early intervention for the extraskeletal complications of SEDC. Spondyloepiphyseal dysplasia congenita (SEDC) (OMIM#183900) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses, flattened vertebral bodies (skeletal abnormalities), and extraskeletal features, including myopia, retinal degeneration with retinal detachment, and cleft palate. SEDC is caused by a heterozygous variant in the collagen II alpha 1 (COL2A1) gene.

Characteristic Reconstitution of the Spinal Langerhans Cell Histiocytosis in Young Children.

BACKGROUND: Pediatric Langerhans cell histiocytosis (LCH) often results in vertebral compression fracture. However, few reports have reported vertebral remodeling during the course of LCH. We aimed to investigate the longitudinal reconstitution and transformation of the affected vertebrae and the adjacent structures in young children with spinal LCH. METHODS: We recruited 13 patients, including 16 affected vertebrae, diagnosed with LCH via biopsy. The average age at first visit was 3.6 years. The average follow-up period was 10.2 years. Vertebral lesions involved L2 in 3 cases; T12, L1, or L5 in 2 cases; and C4, C5, C7, T5, T8, T9, or L3 in 1 case. We measured the ratios of the height of the affected vertebra and 1 vertebra above the affected one to that of the second vertebra above the affected one, local kyphotic angles, and the ratio of the height of the center of the adjacent disk to that of one disk above it. RESULTS: The collapse of the affected vertebra was most severe after 1 year of disease onset. The rate of reconstitution accelerated at 2 years or later of disease onset. The recovery speed of the anterior wall was faster than that of the center height. While the height of the affected vertebrae was restored, the thickness of the adjacent disk also increased. Further, the height of the adjacent vertebrae increased in a similar manner. The average local kyphosis angle shifted to lordosis within the first 3 years. CONCLUSIONS: The heights of not only the disk but also the adjacent vertebra increased during the vertebral collapse phase in pediatric spinal LCH patients. These transformations may affect the realignment of the sagittal spinal balance at the earlier stage of the disease. During the collapse phase, the heights of the adjacent vertebrae and disks increase but after the affected vertebrae reconstituted, the augmentation of adjacent vertebrae and disks diminished. LEVEL OF EVIDENCE: Level IV.

Bone metabolism and inflammatory characteristics in 14 cases of chronic nonbacterial osteomyelitis.

BACKGROUND: Chronic nonbacterial osteomyelitis (CNO) is a multifocal autoinflammatory disease that often impairs daily life in children. This study aimed to investigate the bone metabolic and inflammatory characteristics of patients with CNO, and to assess the differences between responders and nonresponders to conservative treatment. METHODS: We investigated the clinical symptoms; laboratory data including inflammatory and bone metabolic biomarkers; and imaging findings from plain radiography, magnetic resonance imaging (MRI), fluorodeoxyglucose-positron emission tomography (FDG-PET), and dual-energy x-ray absorption (DEXA) in 14 patients with CNO. All patients underwent first-line treatment comprising systemic nonsteroidal anti-inflammatory drugs with or without bisphosphonate. According to the response to the first-line treatment, the patients were divided into the clinical remission/partial response group and the no response group. The differences in bone metabolic and inflammatory characteristics between the two groups were assessed. RESULTS: All patients had low bone mineral density assessed with DEXA. The bone metabolic biomarkers (bone-specific alkaline phosphatase and tartrate-resistant acid phosphatase 5b) were increased in boys of all ages and in young girls. Multiple inflammatory regions were detected in all patients by using FDG-PET including asymptomatic regions. The no response group had higher immunoglobulin G (IgG) and a greater number of bone inflammatory lesions detected on MRI than the clinical remission/partial response group. CONCLUSION: Our data indicate the involvement of abnormal bone turnover, necessity of whole-body scanning, and association of higher serum IgG levels and greater numbers of inflammatory lesions with prolonged disease activity in patients with CNO.

A histomorphometric study of the cancellous spinal process bone in adolescent idiopathic scoliosis.

PURPOSE: Adolescent idiopathic scoliosis (AIS) is a three-dimensional deformity with increased risk of osteopenia of unknown etiology. This study examined the dynamic histomorphometry of AIS patients to gain insight into the underlying pathogenesis of bone metabolism changes in AIS. METHODS: Bone histomorphometry of the spinous process of the 12th thoracic vertebra was analyzed in 33 AIS patients and compared to age-matched normative data. Patients were classified into bone turnover subgroups, based on bone formation rate. RESULTS: Bone volume was subnormal in 67% of AIS patients, but normal in 33%. Bone turnover was high in 76% of the patients, normal in 9%, and low in 15%. Compared to those in the low-turnover group, the high-turnover group patients were taller and had higher TRAP5b values. CONCLUSIONS: Bone histomorphometry indicated that bone fragility and abnormal bone turnover were common in AIS patients. These abnormalities might contribute to the poor bone status and etiology in AIS.

Management of foot deformity in children.

This study describes the management of foot deformity in children. Severe congenital clubfeet treated using posteromedial release without talocalcaneal joint release were flexible and functional. Talectomy may be necessary for congenital clubfeet with arthrogryposis multiplex congenita. The diagnosis and severity of vertical talus were defined based on stress radiographs. For the deformity with spina bifida, a combination of talocalcaneal joint fusion and precise correction by soft tissue release and tendon transfer was performed. This combined surgery is effective, particularly in patients with equino-varus feet.

Scoliosis surgery for handicapped children.

INTRODUCTION: This study aimed to assess treatment outcomes and caregivers' satisfaction regarding scoliosis surgery for handicapped children. METHODS: Handicapped children are, by definition, noncommunicatory and/or nonambulatory. We recruited 26 handicapped children who were followed-up for >1 year after a scoliosis surgery. We recruited 40 patients with adolescent idiopathic scoliosis (AIS) who underwent a surgery during the same period as controls. We used a posterior approach in all the children. We determined preoperative body mass index (BMI), main Cobb angle, Cincinnati correction index (CCI), and fusion level; intraoperative time and blood loss per level; and postoperative complications. We also assessed caregivers' satisfaction with surgical treatments for these patients using the modified Bridwell's questionnaire. RESULTS: We have described the results as handicapped children/AIS. Median preoperative BMI was 16.1/18.6 kg/m2. Preoperative and final Cobb angles were 94.2°/59.7° and 39.7°/17.0°, respectively and CCI was 2.0/1.7. The number of fusion levels was 14.6/9.0. The operative time and blood loss per level were 40.1/44.1 minutes and 264/138 ml, respectively. Postoperative complications in handicapped children were adynamic ileus in 8 cases, dysphagia in 5, pneumonia in 3, urinary tract infection in 2, and superior mesenteric artery syndrome (SMA), surgical site deep infection, infectious enteritis, agitation, and liver dysfunction in 1 each. However, in the AIS group, there was only 1 case of SMA. Median caregivers' satisfaction score on the 0-10 visual analog scale was 9. Caregivers for 19 of the 26 handicapped cases (73%) recommended surgical treatment to caregivers of other children with the same disease. CONCLUSIONS: Surgical treatment for neuromuscular and syndromic scoliosis was associated with a high rate of postoperative complications. However, the caregivers' satisfaction score after surgery was high.

Use of glenoid inclination angle for the assessment of unilateral congenital high scapula.

Little has been reported on the motion of the scapula in Sprengel's deformity. Fourteen patients with unilateral congenital high scapula underwent the Woodward procedure from 1986 to 2004. The median age of the patients at the time of surgery was 4.4 years and the median follow-up duration was 8.8 years. The range of motion of the shoulder and the glenoid inclination angle (GIA) were measured preoperatively and at the final visit. The range of motion of the shoulder and GIA improved at the final visit. There was a positive correlation between the maximum abduction angle of the upper limb and GIA at the final visit.

Rotational open-wedge osteotomy improves treatment outcomes for patients older than eight years with Legg-Calve-Perthes disease in the modified lateral pillar B/C border or C group.

PURPOSE: Since 2003, we have been performing rotational open-wedge osteotomy (ROWO) for older children with severe Legg-Calve-Perthes disease (LCPD). We compared the treatment outcomes before and after the introduction of ROWO for patients aged ≥ eight years, classified in the modified lateral pillar B/C border or C group. METHODS: Before the introduction of ROWO, conservative treatment (non-weight bearing [NWB]) was performed for all cases between 1986 and 2002, whereby there were 34 hips (NWB group). The median patient age, at the first visit, was 9.1 years. According to the lateral pillar classification, 21 hips were categorized into the B/C border group and the others into the C group. Meanwhile, 14 consecutive hips underwent ROWO combined with NWB between 2003 and 2008 (ROWO+NWB group). The median patient age, at the first visit, was 9.1 years. Six hips were in the lateral pillar B/C border group and the others were classified into the C group. There were no significant differences in pre-treatment patients' demographic data. RESULTS: At the latest follow-up, according to the Stulberg classification, there were 19 class II hips, 13 class III hips, and two class IV hips in the NWB group. In the ROWO+NWB group, there were 12 class II hips, two class III hips, and no class IV hips. CONCLUSIONS: The application of ROWO combined with NWB in the treatment of older children with severe LCPD improved their outcomes, compared to those obtained by NWB treatment alone.

Novel 2 radiographical measurements for atlantoaxial instability in children with Down syndrome.

STUDY DESIGN: A retrospective case-control study. OBJECTIVE: To assess the usefulness and reproducibility of 2 novel safe and simple radiographical measurements for atlantoaxial instability in children with Down syndrome. SUMMARY OF BACKGROUND DATA: In pediatric atlantoaxial instability, early diagnosis is important for improved outcomes because of poor postoperative recovery in progressed neurological symptoms. Conventional dynamic radiography of the cervical spine is associated with a potential risk of worsening neurological symptoms. METHODS: We retrospectively reviewed the medical records of 50 patients (24 boys and 26 girls) with atlantoaxial instability associated with Down syndrome. Of the 50 children, 11 had undergone and 4 had been scheduled for surgery (surgical group). In this investigation, in addition to the atlas-dens interval (ADI) and space available for spinal cord (SAC), we measured C1 inclination angle and C1/4 SAC ratio on lateral radiographs of the cervical spine in the neutral position. To assess the diagnostic abilities of these indices to determine indication for surgery, receiver operating characteristic analysis of each index was performed, and their diagnostic abilities were compared using the area under the receiver operating characteristic curve. Moreover, we assessed reproducibility of our 2 proposed indices. RESULTS: The discriminatory abilities of C1/4 SAC ratio (area under the receiver operating characteristic curve, 1.00) and C1 inclination angle (0.91) were comparable with those of ADI (0.98) and SAC (0.95). For the interobserver and intraobserver reliability of the novel indices, the correlation coefficients were in the range from 0.88 to 0.99. Correlation was observed between the ADI and C1/4 SAC ratio (r = 0.507, P < 0.01) and between the ADI and C1 inclination angle (r = 0.407, P < 0.01). CONCLUSION: The diagnostic abilities of the 2 novel radiographical measurements were comparable with those of ADI and SAC. Moreover, these novel measurements can be obtained safely on lateral radiographs of the cervical spine in the neutral position. LEVEL OF EVIDENCE: 4.

Flexibility of idiopathic congenital clubfeet treated by posteromedial release without talocalcaneal joint release.

We retrospectively reviewed 57 patients with 84 idiopathic clubfeet and followed them up for at least 15 years. All feet were rated as good or excellent according to the International Clubfoot Study Group score. Stress radiographs showed that the arc of forefoot motion of conservatively treated feet was 81%, in operated feet of patients aged more than 1 year it was 74%, and in feet of patients aged less than 1 year during surgery it was 65%, compared with those in contralateral normal feet. Despite the severity of the deformity, feet treated by our posteromedial release without talocalcaneal joint release were flexible and functional.

Use of dynamic spinal brace in the management of neuromuscular scoliosis: a preliminary report.

Neuromuscular scoliosis is difficult to treat with braces because the collapsing trunk with the spinal deformity cannot tolerate the hard materials used for most orthoses. The dynamic spinal brace (DSB) is a novel three-point support brace used in Japan. We present our preliminary findings of 52 pediatric patients with neuromuscular scoliosis treated using DSBs. A positive correlation was found between the Cobb angle at the initiation of bracing and the degree of scoliosis progression. We concluded that DSBs may be effective for early-stage scoliosis. We also found that DSB improved sitting stability and thereby caregiver satisfaction.

Use of real-time polymerase chain reaction for the diagnosis of infection and differentiation between gram-positive and gram-negative septic arthritis in children.

BACKGROUND: Diagnosis and identification of the etiological agent of septic arthritis (SA) in children is an important issue, as early treatment based on accurate diagnosis of joint infections can prevent potentially disabling complications. The purpose of this study was to evaluate the efficacy of real-time polymerase chain reaction (PCR) for the diagnosis of SA in children. PATIENTS AND METHODS: Twenty children with suspected SA who had joint pain and underwent surgical treatment were enrolled in this study. Their preoperative clinical and laboratory findings were investigated. Tissues obtained during operation were subjected to microbiological culture and real-time PCR, including methicillin-resistant Staphylococcus (MRS)-specific PCR and broad range universal PCR. Infection was confirmed if the result of microbiological culture was positive. Furthermore, abnormal clinical and laboratory findings and improvement in the symptoms and posttreatment data were also defined as the final diagnosis of infection. RESULTS: Out of the 20 patients, 19 were diagnosed with the infection. The remaining patient was postoperatively diagnosed with juvenile idiopathic arthritis. Abnormal preoperative body temperatures, white blood cell counts, C-reactive protein levels, and erythrocyte sedimentation rates were observed in 6, 9, 15, and 12 cases, respectively. The results of microbiological culture, MRS-PCR, and universal PCR were positive in 9, 2, and 15 cases, respectively. Analysis of the melting peak in universal PCR revealed that of the 15 cases, 10 had gram-positive and 5 had gram-negative infections. The sensitivity and specificity for the diagnosis of SA were, respectively, 0.47 and 1.00 in microbiological culture and 0.79 and 1.00 in real-time PCR. CONCLUSIONS: Successful diagnosis of infection and differentiation between gram-positive and gram-negative bacteria were achieved using MRS-PCR and universal PCR. Hence, real-time PCR is useful and has greater sensitivity than microbial culture for diagnosing SA in children. LEVEL OF EVIDENCE: Level II diagnostic study investigating a diagnostic test.

Foot anomalies in Antley-Bixler syndrome: three case reports.

Multiple joint contractures, including radiohumeral synostosis, are the hallmark of Antley-Bixler syndrome (ABS). The detailed description of the skeletal aberration, however, focused in feet is scarce. We carried out the scrutiny for foot lesion in three ABS patients with POR (nicotinamide adenine dinucleotide phosphate-oxidase-cytochrome P450 oxidoreductase) gene mutations, one of whom had undergone surgical intervention for difficulty in walking. Radiographs in all three patients showed middle cuneiform-second metatarsal synostosis and the fourth brachymetapody, irrespective of the severity of their systemic manifestations. In addition, talocalcaneal synostosis, lateral cuneiform-cuboid synostosis, defects of middle phalanx, and distal phalanx-middle phalanx synostosis were found in at least two patients. In conclusion, we found distinctive constellations of foot abnormalities in the patients of ABS with POR gene mutation, which may be useful in planning the treatment strategy, as well as in the diagnostic process.