What Is the Early/Mid-term Survivorship and Functional Outcome After Bernese Periacetabular Osteotomy in a Pediatric Surgeon Practice?

BACKGROUND: The Bernese periacetabular osteotomy (PAO) is a recognized joint-preserving procedure. Achieving joint stability without creating impingement is important, but the orientation target that best balances these sometimes competing goals has not yet been clearly defined. Moreover, the learning curve of this challenging procedure has not been described. QUESTIONS/PURPOSES: The purposes of this study were (1) to determine the 10-year survivorship and functional outcome after Bernese PAO in a single-surgeon series; (2) to review which patient, surgical, and radiographic factors might predict outcome after the procedure; and (3) to define the learning curve for target acetabular correction. METHODS: The first 68 PAOs performed for symptomatic hip dysplasia were retrospectively evaluated. None have been lost to followup with followup less than 2 years. Endpoints for the lost to followup (n = 2) are at the time of when last seen. During the study period, the same surgeon performed 562 pelvic osteotomies (including Salter, Pemberton, Dega and Chiari) and 64 shelf acetabuloplasties. Bernese PAO was used only for symptomatic dysplasia (center-edge angle < 25° and nonhorizontal acetabular roof) in developmentally mature hips without evidence of major joint incongruence or subluxation. Most patients were female (n = 49 [60 hips, 88%]); mean age at operation was 25 years (SD 7). Sixteen hips had previous hip procedures. The study's mean followup was 8 years (range, 2-18 years). Patient-reported functional outcome was obtained using the WOMAC score (best-worst: 0-96). Radiographic parameters of dysplasia (acetabular index [AI], center-edge angle [CEA], congruency, Tönnis grade, and joint space) were evaluated from preoperative and postoperative radiographs using computer software. RESULTS: The 10-year survival rate was 93% (95% confidence interval [CI], 82%-100%); four patients underwent further surgery to the hip in the study period. The mean WOMAC was 12 (range, 0-54). Factors that influenced survival included joint congruency (100% versus 78%; 95% CI, 61%-96%; p = 0.03) and acetabular orientation correction achieved (AIpostoperative < 15° [100% versus 65%; 95% CI, 43-88; p < 0.001] and CEApostoperative 20° to 40° [100% versus 71.9%; 52.8-100; p < 0.001]). Better WOMAC scores were seen if postoperative AI < 15° (7 versus 25, p = 0.005) and CEA between 20° and 40° (7 versus 23, p = 0.005) were achieved. The chances of obtaining acetabular correction within this range improved after the 20(th) procedure (30% versus 70%, p = 0.008). CONCLUSIONS: This study reports excellent results after Bernese PAO in the hands of an experienced pediatric hip surgeon. We advocate cautious correction of the acetabular fragment. Future studies should concentrate on how to determine what the optimal target is and how to achieve it intraoperatively, minimizing the learning curve associated with it. LEVEL OF EVIDENCE: Level III, therapeutic study.

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.

Robinow syndrome (RS) is a genetically heterogeneous disorder with six genes that converge on the WNT/planar cell polarity (PCP) signaling pathway implicated (DVL1, DVL3, FZD2, NXN, ROR2, and WNT5A). RS is characterized by skeletal dysplasia and distinctive facial and physical characteristics. To further explore the genetic heterogeneity, paralog contribution, and phenotypic variability of RS, we investigated a cohort of 22 individuals clinically diagnosed with RS from 18 unrelated families. Pathogenic or likely pathogenic variants in genes associated with RS or RS phenocopies were identified in all 22 individuals, including the first variant to be reported in DVL2. We retrospectively collected medical records of 16 individuals from this cohort and extracted clinical descriptions from 52 previously published cases. We performed Human Phenotype Ontology (HPO) based quantitative phenotypic analyses to dissect allele-specific phenotypic differences. Individuals with FZD2 variants clustered into two groups with demonstrable phenotypic differences between those with missense and truncating alleles. Probands with biallelic NXN variants clustered together with the majority of probands carrying DVL1, DVL2, and DVL3 variants, demonstrating no phenotypic distinction between the NXN-autosomal recessive and dominant forms of RS. While phenotypically similar diseases on the RS differential matched through HPO analysis, clustering using phenotype similarity score placed RS-associated phenotypes in a unique cluster containing WNT5A, FZD2, and ROR2 apart from non-RS-associated paralogs. Through human phenotype analyses of this RS cohort and OMIM clinical synopses of Mendelian disease, this study begins to tease apart specific biologic roles for non-canonical WNT-pathway proteins.

The Oxford Ankle Foot Questionnaire for children: responsiveness and longitudinal validity.

PURPOSE: To evaluate how scores from the Oxford Ankle Foot Questionnaire change over time and with treatment using both distribution-based and anchor-based approaches. METHODS: Eighty children aged 5-16 and their parent or career completed questionnaires at orthopaedic or trauma outpatient clinics. They were asked to complete and return a second set of questionnaires again within 2 weeks (retest), and then mailed a third set of questionnaires to complete again after 2 months (follow-up). The follow-up questionnaires included a global rating of change 'transition' item. RESULTS: Child- and parent-reported mean domain scores (Physical, School & Play, and Emotional) were all stable at retest, whereas positive mean changes were observed at follow-up. As we hypothesised, trauma patients had poorer scores than elective patients at baseline, and showed greater improvement at follow-up. For trauma patients, mean changes in per cent scores were large (scores improved between 40 and 56 for the Physical and School & Play domains, and 17 and 21 for Emotional); all effect sizes (ES) were large (>0.8). For elective patients, the mean improvement in per cent scores were more moderate (Physical: child 10, ES = 0.4, parent 11, ES = 0.5; School & Play child 0, ES = 0, parent 9 ES = 0.4; Emotional: child 6, ES = 0.2; parents 8, ES > 0.3). Minimal detectable change (MDC(90)), an indication of measurement error, ranged from 6 to 8. Half the standard deviation of baseline scores ranged from 11 to 18. Minimal important difference could only be calculated for elective patients (9 child and 13 parent ratings), these ranged from 7 to 17. CONCLUSIONS: The findings support the responsiveness and longitudinal validity of the scales. Changes in domain scores of, or exceeding, the MDC(90) (6-8) are likely to be beyond measurement error; further work is required to refine the estimate of change that can be considered important.

The outcome of patients with hinge abduction in severe Perthes disease treated by shelf acetabuloplasty.

BACKGROUND: The management of patients with Perthes disease remains controversial. In children with hinge abduction and the potential for remodeling, we have performed a shelf acetabuloplasty, in an effort to contain the hip and allow remodeling. We report our medium-term results in a consecutive series of 27 children with severe Perthes disease and arthrographically proven hinge abduction. This is the first report in the English literature to look specifically at the results of treating patients with hinge abduction in severe Perthes disease by shelf acetabuloplasty. METHODS: Twenty-seven consecutive children with unilateral Perthes disease and arthrographically proven hinge abduction were treated with a shelf acetabuloplasty. These patients have been prospectively reviewed with a clinical examination and radiographic assessment including Catterall, Salter Thompson, and Herring's lateral pillar classification. Radiological measurements included percentage acetabular cover, medial joint space, and femoral head size ratio. RESULTS: The mean postoperative follow-up was 62 months (range, 26-125 months). All patients were Catterall grade III or IV and lateral pillar grade B or C and had arthrographically proven hinge abduction at the time of surgery. At final follow-up, 14 hips were Stulberg grades 1 and 2; 10 hips, grade 3; and 3 hips, grades 4 and 5. The medial joint space decreased from a preoperative ratio of 1.9 to 1.4 (P = 0.002), and the percentage acetabular cover increased from 81% preoperatively to 97% postoperatively (P < 0.001). CONCLUSION: These results suggest overall good outcomes from a group of patients with severe Perthes disease as measured by the Stulberg grading when compared with historical controls. We suggest that shelf acetabuloplasty is a straight forward surgical procedure with good medium-term results in patients with severe Perthes disease who have proven hinge abduction preoperatively. LEVEL OF EVIDENCE: Level IV case series.

Hip arthrography in the assessment of children with developmental dysplasia of the hip and Perthes' disease.

In our unit, children with developmental dysplasia of the hip or Perthes' disease, for whom an operation is considered, undergo examination under anaesthetic and a hip arthrogram. This prospective study assessed whether the arthrogram modified treatment and analysed the reliability of its interpretation. All children undergoing a hip arthrogram for developmental dysplasia of the hip and Perthes' disease over a 12-month period were included. Treatment plans before and after the arthrogram were compared for each of the three children's consultants. The preoperative and arthrographic appearances were blindly reviewed to monitor reproducibility. Twenty-one patients with developmental dysplasia of the hip and 19 with Perthes' disease were included. The treatment plan was modified in 12 of the 21 (57.1%) patients with developmental dysplasia of the hip as a consequence of the arthrogram and six of the 19 patients (31.6%) with Perthes' disease. Intraobserver consultant agreement was high but interobserver agreement was only moderate. Static and dynamic arthrography helps decision-making in patients with developmental dysplasia of the hip and Perthes' disease.

What is a good result after clubfoot treatment? A Delphi-based consensus on success by regional clubfoot trainers from across Africa.

BACKGROUND: Congenital talipes equino-varus (CTEV), also known as clubfoot, is one of the most common congenital musculoskeletal malformations. Despite this, considerable variation exists in the measurement of deformity correction and outcome evaluation. This study aims to determine the criteria for successful clubfoot correction using the Ponseti technique in low resource settings through Africa. METHODS: Using the Delphi method, 18 experienced clubfoot practitioners and trainers from ten countries in Africa ranked the importance of 22 criteria to define an 'acceptable or good clubfoot correction' at the end of bracing with the Ponseti technique. A 10cm visual analogue scale was used. They repeated the rating with the results of the mean scores and standard deviation of the first test provided. The consistency among trainers was determined with the intra-class correlation coefficient (ICC). From the original 22 criteria, ten criteria with a mean score >7 and SD <2 were identified and were rated through a second Delphi round by 17 different clubfoot treatment trainers from 11 countries in Africa. The final definition consisted of all statements that achieved strong agreement, a mean score of >9 and SD<1.5. RESULTS: The consensus definition of a successfully treated clubfoot includes: (1) a plantigrade foot, (2) the ability to wear a normal shoe, (3) no pain, and (4) the parent is satisfied. Participants demonstrated good consistency in rating these final criteria (ICC 0.88; 0.74,0.97). CONCLUSIONS: The consistency of Ponseti technique trainers from Africa in rating criteria for a successful outcome of clubfoot management was good. The consensus definition includes basic physical assessment, footwear use, pain and parent satisfaction.

The classification of congenital talipes equinovarus.

e have assessed the reliability of four classification systems for club foot. Four observers evaluated nine children (18 feet) at different stages in the first six months of life, a total of 180 examinations. Each observer independently assessed all feet according to the classification systems described by Catterall, Diméglio et al, Harrold and Walker, and Ponseti and Smoley. The variation between observers was assessed using the kappa test which for no more agreement than chance has a value of 0, and for complete agreement between observers a value of 1. The kappa values varied between 0.14 and 0.77 depending on which classification system was used. The system of Diméglio et al was found to have the greatest reliability. Our findings suggest that current classification systems for the analysis of congenital talipes equinovarus are not entirely satisfactory.

The Oxford Ankle Foot Questionnaire for Children: review of development and potential applications.

There is increasing recognition of the credibility and utility of patient reported outcome measures, both in research and as routine quality indicators. This paper reviews the development of a questionnaire for children with foot or ankle problems and integrates the findings from three previously published studies in a cohesive way for the orthotic community. The Oxford Ankle Foot Questionnaire for Children was designed to evaluate the effectiveness of interventions. The development process was conducted in three phases. First the items were devised through focus groups with children affected by foot and ankle problems, and their parents. Second, test versions of child and parent questionnaires were evaluated to enable scales to be developed and tested for validity and reliability. Finally, findings from a prospective study assessing how scores changed over time and/or with treatment supported the longitudinal validity and responsiveness of the scales. The questionnaire offers an inexpensive and expedient means to evaluate the effectiveness of orthoses and other interventions used to treat children's foot or ankle problems. The Oxford Ankle Foot Questionnaire for Children has broad utility both in routine clinical settings, or applied research to evaluate treatment programmes and interventions used in paediatric orthopaedics, trauma and rheumatology.

Complications of elastic stable intramedullary nail fixation of pediatric femoral fractures, and how to avoid them.

Flexible intramedullary nailing has become a popular method of fixation of pediatric femoral fractures. The authors analyzed their first 5-year experience with titanium elastic stable intra-medullary nailing, specifically to report the complications associated with this technique and to provide recommendations to avoid these complications. Seventy-eight children with 79 femoral fractures were treated by this method. Complications included pain/irritation at the insertion site (41), radiographic malunion (8), refracture (2), transient neurologic deficit (2), and superficial wound infection (2). Ten patients required reoperation prior to union. Malunion and/or loss of reduction requiring reoperation was strongly associated with the use of nails of mismatched diameters (odds ratio = 19.4) and comminution of more than 25% (odd ratio = 5.5). Pain at the insertion site was significantly associated with bent or prominent nail ends. Most complications are minor, and many are preventable. Surgeons should advance nail ends to lie against the supracondylar flare of the femur to avoid symptoms at the insertion site and should avoid implanting nails of two different diameters. Comminuted fractures should be monitored carefully and might benefit from additional immobilization.