Functional Outcome of Forearm Rodding in Children With Osteogenesis Imperfecta.

BACKGROUND: The impact of corrective forearm surgery on functional ability in children with osteogenesis imperfecta (OI) has not previously been reported. This study addresses this issue. METHODS: A retrospective chart review was conducted on 19 children with OI who underwent 22 corrective forearm procedures between 1996 and 2013. Functional ability was assessed preoperatively and every year postoperatively using the Pediatric Evaluation of Disability Inventory (PEDI). RESULTS: The mean PEDI self-care score increased by 6.8 (P=0.017) and the mean PEDI mobility score increased by 7.2 (P=0.020) at 1-year postsurgery. Functional gains were greater in moderate OI (types IV, V, and VI) than in severe OI (type III). Improved function was maintained in the majority of cases at a mean of 8.9 years postcorrection. CONCLUSIONS: Corrective forearm surgery in children with OI leads to improved functional ability. LEVEL OF EVIDENCE: Level IV.

Functional Outcome of Humeral Rodding in Children With Osteogenesis Imperfecta.

BACKGROUND: The impact of humeral rodding on functional ability in children with osteogenesis imperfecta (OI) has not previously been reported. This article investigates this issue. METHODS: A retrospective chart review was conducted on 35 children with OI who underwent humeral rodding at our institution between 1995 and 2013. Fassier-Duval rods were inserted in 19 cases, K-wires in 13 cases, and Rush rods in 3 cases. Functional ability was assessed preoperatively and every year postoperatively using the self-care and mobility domains of the Pediatric Evaluation of Disability Inventory (PEDI). RESULTS: The mean PEDI self-care score increased by 5.7 (P=0.028) and the mean PEDI mobility score increased by 3.6 (P=0.008) at 1-year postsurgery. Improved function was maintained in the majority of cases at a mean of 7.0 years postcorrection. CONCLUSIONS: Humeral rodding in children with OI leads to significant improvement in functional ability. LEVEL OF EVIDENCE: Level IV.

Characterization of Hip Morphology in Children With Mucopolysaccharidosis Types I and II.

BACKGROUND: The purpose of this study is to describe the natural history of hip morphology in patients with mucopolysaccharidoses (MPS) I and MPS II. METHODOLOGY: This is a retrospective radiographic analysis of 88 hips in 44 children with MPS I and II. Radiographs were examined to determine hip migration, femoral head sphericity, and acetabular dysplasia at different ages throughout childhood. In individual hips, change in morphology and rate of change were analyzed. RESULTS: There was a high rate of hip migration and femoral head dysplasia in both MPS I and MPS II. Progressive migration was seen in three quarters of hips and progressive femoral head deformity in over half of hips. Acetabular dysplasia was variable, ranging from normal to severely dysplastic, but did not change with time. Overall, hips were more dysplastic in MPS I than MPS II. CONCLUSIONS: Hip morphology is variable in MPS I and MPS II ranging from almost normal to severely dysplastic. Some hips do not deteriorate with time and thus surgical intervention may not be necessary in all cases. Deterioration is slow allowing time to plan a holistic approach to treatment. LEVEL OF EVIDENCE: Level IV-case series.

Diagnostic yield of sonography in infants with suspected hip dysplasia: diagnostic thinking efficiency and therapeutic efficiency.

OBJECTIVE: The purpose of this study is to determine the impact of sonographic information on surgeons' diagnostic thinking and decision making in the management of infants with a possible diagnosis of developmental dysplasia of the hip (DDH). SUBJECTS AND METHODS: Five experienced orthopedic surgeons examined 66 hips of infants who were referred for a possible diagnosis of DDH and reported for each hip a confidence level about the diagnosis of DDH using a visual analog scale (VAS) before and after hip sonography was obtained. In addition, they reported a management plan. We determined the efficiency in diagnostic thinking by calculating the mean gain in diagnostic confidence as the percentage change in VAS scores and the impact of sonography on the management plan (therapeutic efficiency). RESULTS: Sonography led to a change in diagnosis in 52% (34/66) of hips. The management plan changed in 32% (21/66) of hips. The mean gain in reported diagnostic confidence was 19.4% (95% CI, 17.3-21.5%), but it was 46.0% (95% CI, 30.5-60.8%) in cases where the management changed as a result of sonography (difference, 37.7%; p < 0.0001). The greatest yield of sonography was found in hips showing limited abduction. Sonography obviated further follow-up in 23% (15/66) of cases. CONCLUSION: Sonography refined the diagnostic thinking of clinicians and led to a change in diagnosis in 52% of cases. Management plans changed in 32% of cases.

The Core outcome Clubfoot (CoCo) study: relapse, with poorer clinical and quality of life outcomes, affects 37% of idiopathic clubfoot patients.

Aims: There is a lack of high-quality research investigating outcomes of Ponseti-treated idiopathic clubfeet and correlation with relapse. This study assessed clinical and quality of life (QoL) outcomes using a standardized core outcome set (COS), comparing children with and without relapse. Methods: A total of 11 international centres participated in this institutional review board-approved observational study. Data including demographics, information regarding presentation, treatment, and details of subsequent relapse and management were collected between 1 June 2022 and 30 June 2023 from consecutive clinic patients who had a minimum five-year follow-up. The clubfoot COS incorporating 31 parameters was used. A regression model assessed relationships between baseline variables and outcomes (clinical/QoL). Results: Overall, 293 patients (432 feet) with a median age of 89 months (interquartile range 72 to 113) were included. The relapse rate was 37%, with repeated relapse in 14%. Treatment considered a standard part of the Ponseti journey (recasting, repeat tenotomy, and tibialis anterior tendon transfer) was performed in 35% of cases, with soft-tissue release and osteotomies in 5% and 2% of cases, respectively. Predictors of relapse included duration of follow-up, higher initial Pirani score, and poor Evertor muscle activity. Relapse was associated with poorer outcomes. Conclusion: This is the first multicentre study using a standardized COS following clubfoot treatment. It distinguishes patients with and without relapse in terms of clinical outcomes and QoL, with poorer outcomes in the relapse group. This tool allows comparison of treatment methods and outcomes, facilitates information sharing, and sets family expectations. Predictors of relapse encourage us to create appropriate treatment pathways to reduce relapse and improve outcome.

Late Presentation of Tricho-Rhino-Phalangeal Syndrome (TRPS1 Affected) Associated Hip Pathology.

Perthes disease typically presents between the ages of 4 and 9 years and is characterized by unilateral or bilateral avascular necrosis of the femoral head. Clinically it presents with pain and decreased range of motion and has a disease course of up to 5 years. We report the clinical and radiological findings of a female in early adolescence who was referred to pediatric physiotherapy and found to have Perthes-like changes of the hip, on a background of tricho-rhino-phalangeal syndrome type 1 (TRPS1). The patient's first symptoms of hip pain were reported at age 10, but there was no radiographic evidence until 2.5 years later when a diagnosis of Perthe's disease was made. This uniquely late presentation may have been due to the altered skeletal maturation seen in TRPS1, whereby skeletal age lags behind chronological age. This case highlights the importance of identifying relevant past medical history on initial assessment, and having rapid access to radiology and orthopedic support to enable timely diagnosis, as prognosis becomes poorer as age increases. Perthes-like changes should be considered as a differential diagnosis in patients presenting with non-traumatic hip pain, regardless of age of onset.

Clubfoot: an overview and the latest UK guidelines.

Clubfoot is one of the most common congenital anomalies, affecting every 1 of 1000 live births in the UK. Historically, clubfeet have been managed with a variety of conservative and operative techniques. Over the last two decades, the Ponseti serial casting method has become the gold standard of treatment. In July 2021, the British Society of Children's Orthopaedic Surgery (Gelfer et al, 2022) published a consensus statement that outlines the optimal management for clubfoot. This article provides an overview of clubfoot and a summary of the latest management guidelines.