Texas Scottish Rite Hospital for Children

Scoliosis is the most common developmental spinal deformity, but its genetic underpinnings remain only partially understood. To identify scoliosis-related loci, we utilized dual energy X-ray absorptiometry (DXA) scans from 57,588 individuals in the UK Biobank (UKB), and quantified spinal curvature using deep learning-based vertebral segmentation and landmarking to measure cumulative horizontal displacement. On a subset of 150 individuals, our automated image-derived curvature measurements showed a correlation of 0.83 with clinical Cobb angle assessments, supporting their validity as a proxy for scoliosis severity. To connect spinal curvature to genetics, we conducted a genome-wide association study (GWAS). Our quantitative imaging phenotype identified 2 novel loci associated with scoliosis in a European population. These loci are in SEM1/SHFM1 and on an lncRNA on chr 3 located between EDEM1 and GRM7. Genetic correlation analysis revealed significant overlap between our image-based GWAS and ICD-10-based GWAS in the UKB and the Biobank of Japan. We show that our quantitative GWAS identifies more genome-wide significant loci than a case-control scoliosis dataset with ten times the sample size. Our results illustrate the potential of quantitative imaging phenotypes to uncover genetic associations that are challenging to capture with medical records alone and identify new loci for functional follow-up.

Children with rheumatic diseases experience social determinants of health that influence access to care and outcomes, yet data in pediatric rheumatology are limited. We aimed to characterize caregiver-reported social determinants of health in juvenile idiopathic arthritis, systemic lupus erythematosus, and juvenile dermatomyositis and assess disparities by diagnosis, language, ethnicity, insurance, and neighborhood disadvantage. We conducted a cross-sectional study of 417 caregiver surveys administered in English or Spanish during routine clinic visits (February to May 2023). Surveys assessed education, health literacy, food security, housing stability, transportation, and social work needs. Neighborhood deprivation was quantified using the Area Deprivation Index. Associations between SDoH and sociodemographic factors, insurance, diagnosis, and area of deprivation index were analyzed using univariate and post-hoc tests with complete case analysis. Mean cohort age was 12.1 years; 74.1% were female, 77.0% White, and 36.1% Hispanic/Latino. Overall, 39.1% of caregivers reported ≥ 1 unmet social need, yet only 8.9% requested social work support. Unmet needs were highest among Spanish-speaking families (83%), Hispanic/Latino caregivers (56%), and publicly or uninsured households (59% and 45%). Systemic Lupus (44%) and Juvenile Dermatomyositis (34%) caregivers reported more food insecurity than Juvenile Arthritis (18%). Higher area of deprivation index was associated with lower caregiver education, limited health literacy, food insecurity, transportation barriers, and housing instability (all P < 0.05). Children with rheumatic disease experience substantial social determinants of health-related inequities, especially those with Systemic lupus or Juvenile dermatomyositis, Hispanic/Latino ethnicity, Spanish-speaking, or non/underinsurance. Incorporating area of deprivation index-informed social determinants of health screening into pediatric rheumatology may help identify high-risk families and guide targeted, equitable interventions.

The outcome of treatment for Perthes' disease has historically been assessed using the Stulberg classification, which is categorical and subjective, as reported in a large prospective multicentre study by the original Perthes' Study Group in 2004. The aim of this study was to reanalyze these outcomes and prognostic determinants using a quantitative outcome measure, the sphericity deviation score. We reanalyzed the demographic and radiological data, which included 319 patients followed up for a mean of 8.7 years (2.2 to 15.3), until skeletal maturity. The sphericity deviation scores of all 319 hips were measured by two independent observers. The forms of treatment included no treatment or range of motion (ROM) exercises, bracing, proximal femoral varus osteotomy, and Salter innominate osteotomy. We compared differences in the outcomes of treatment after stratification by significant patient characteristics determined by a multivariate linear regression. The patients were also analyzed using a regression tree model. Multivariate analysis identified age at the time of onset of the condition, sex, and the form of treatment as significant prognostic factors, with bone age at onset as the most significant factor, followed by chronological age and the form of treatment. In patients with a bone age of ≤ six years at the time of onset, the form of treatment did not affect the outcome. In patients with a bone age of > six years, femoral osteotomy or Salter osteotomy produced significantly better sphericity scores than no treatment or ROM exercises. The regression tree analysis corroborated these findings and found that those who had a femoral osteotomy had significantly better outcomes than those who did not, in patients with a chronological age of > 7.6 years. Analysis based on scores of the sphericity of the femoral head showed that age at the onset of Perthes' disease, sex, and the form of treatment were significant prognostic factors of outcome. Multivariate analysis with dichotomization of the bone age (≤ 6 yrs or > 6 yrs) revealed significantly better sphericity scores after proximal femoral osteotomy or Salter osteotomy than after no treatment or ROM exercises in patients with a bone age of > six years at the time of onset. The regression tree analysis without prior dichotomization showed that the patients who were treated with a femoral osteotomy had significantly better outcomes than those who did not, in patients with a chronological age of > 7.6 years.

Patellofemoral instability (PFI) is common in adolescents and may require surgical treatment. Patient-reported outcome scores (PROs) are frequently used to evaluate outcomes after treatment. Commonly used PROs for PFI include disease-specific Banff Patellofemoral Instability Instrument 2.0 (BPII 2.0) and region-specific measures such as the Kujala Anterior Knee Pain Scale (Kujala), Pediatric International Knee Documentation Committee Subjective Knee Form (Pedi-IKDC), and Knee injury and Osteoarthritis Outcome Score (KOOS). The study aimed to compare the performance of disease-specific and region-specific PROs in adolescents after PFI surgery, and to evaluate their sensitivity to change. It was hypothesized that disease-specific PROs would perform better than region-specific PROs. Case series; Level of evidence, 4. The JUPITER (Justifying Patellar Instability Treatment by Early Results) study database was used to evaluate PROs in 256 adolescents (263 knees) aged ≤18 years who underwent surgical treatment for PFI. Four commonly used PRO scores were analyzed at baseline and at least 1 year postoperatively. Statistical analysis included comparisons between pre- and postoperative scores, calculation of minimal clinically important difference (MCID), correlations among the 4 scores, and evaluation of their sensitivity to change, floor effects, and ceiling effects. The median age was 15 years. Isolated medial patellofemoral ligament reconstruction was the most common procedure. The mean BPII 2.0 scores were lower at baseline and postoperatively, and showed the most substantial change at 1-year follow-up. There was a moderate correlation between the BPII 2.0 and the Kujala, Pedi-IKDC, and KOOS scores, and a strong correlation among the latter 3 scores. All scores were more sensitive to change among those at the lower 50th percentile of baseline scores. The BPII 2.0 was the only PRO that did not exhibit ceiling effects at follow-up. When comparing the performance of disease-specific (BPII 2.0) and region-specific (Kujala, Pedi-IKDC, and KOOS) PROs, the BPII 2.0 was found to be the most sensitive to change after PFI surgery in adolescents, and the only scale that did not have a ceiling effect at baseline and 1-year follow-up. There was a moderate correlation-and thus limited interchangeability-between the BPII 2.0 and the Kujala, Pedi-IKDC, and KOOS scores, both at baseline and at 1-year follow-up, and a strong correlation among the latter 3 knee-specific PROs. The BPII 2.0 should be considered the PRO of choice when evaluating adolescent patients with PFI.

Cerebral arteriovenous malformations (AVMs) are congenital vascular abnormalities that can lead to neurological impairments following rupture. This proof-of-concept case report examines the integration of the Monitored Augmented Rehabilitation System (MARS), an immersive virtual gaming platform, into a multidisciplinary rehabilitation program for a 12-year-old female recovering from a ruptured AVM. MARS was used as an adjunct modality alongside conventional interventions over a 4-week period to target functional outcomes as assessed by the Neurocom Balance Manager®. Quantitative results demonstrated targeted functional gains: Directional Control during the Limits of Stability test increased from 66% to 73%, toes-up Adaptation Test scores improved from 104.2 to 116.2, and toes-down scores from 115.6 to 119.0. Clinically observed increases in engagement, motivation, and adherence were noted during therapy sessions. This report underscores the feasibility and clinical potential of MARS as a complementary tool for enhancing motor learning and functional outcomes in pediatric neurorehabilitation. Future research should focus on larger sample sizes and extended intervention periods to validate the efficacy of MARS in improving long-term recovery outcomes.

Background/Objectives: Although clinical practice guidelines and evidence-based practices for early cerebral palsy (CP) diagnosis and treatment are well established, their implementation remains inconsistent across care settings. This study sought to identify key research priorities related to early CP diagnosis and treatment and to develop an actionable framework through multi-collaborator consensus building. Methods: The 97 adult participants included 42 who have lived experience with CP. Before the conference, participants completed a survey rating the importance of research topics. During the conference, aggregated results were presented, followed by 16 focus group discussions to refine research priorities. A follow-up survey was conducted to validate the final priorities. Results: Six actionable items were identified: improving diagnosis communication, ensuring early referrals and interdisciplinary collaboration, creating inclusive education and training, scaling evidence-based therapies and researching new interventions, developing social support systems, and advocating for policy and cultural change. A research framework was developed that outlines how these priorities can be addressed through three main strategies: education and training, research expansion, and policy advocacy. Conclusions: This study highlights the critical need for comprehensive and compassionate care for families receiving a CP diagnosis. Key priorities include early detection, coordinated multidisciplinary teams, and well-trained professionals delivering evidence-based interventions. The comprehensive framework addressing these priorities lays the foundation for future patient-centered comparative clinical effectiveness research.

IntroductionDistal radius fractures are the most common fractures seen in the emergency department in children in the USA. However, no established or standardised guidelines exist for the optimal management of completely displaced fractures in younger children. The proposed multicentre randomised trial will compare functional outcomes between children treated with fracture reduction under sedation versus children treated with simple immobilisation.Methods and analysisParticipants aged 4–10 years presenting to the emergency department with 100% dorsally translated metaphyseal fractures of the radius less than 5 cm from the distal radial physis will be recruited for the study. Those patients with open fractures, other ipsilateral arm fractures (excluding ulna), pathologic fractures, bone diseases, or neuromuscular or metabolic conditions will be excluded. Participants who agree to enrol in the trial will be randomly assigned via a minimal sufficient balance algorithm to either sedated reduction or in situ immobilisation. A sample size of 167 participants per arm will provide at least 90% power to detect a difference in the primary outcome of Patient-Reported Outcomes Measurement Information System Upper Extremity computer adaptive test scores of 4 points at 1 year from treatment. Primary analyses will employ a linear mixed model to estimate the treatment effect at 1 year. Secondary outcomes include additional measures of perceived pain, complications, radiographic angulation, satisfaction and additional procedures (revisions, refractures, reductions and reoperations).Ethics and disseminationEthical approval was obtained from the following local Institutional Review Boards: Advarra, serving as the single Institutional Review Board, approved the study (Pro00062090) in April 2022. The Hospital for Sick Children (Toronto, ON, Canada) did not rely on Advarra and received separate approval from their local Research Ethics Board (REB; REB number: 1000079992) on 19 July 2023. Results will be disseminated through publication in peer-reviewed journals and presentations at international conference meetings.Trial registration numberNCT05131685.

Engaging community collaborators in research is crucial for enhancing health care outcomes, especially for cerebral palsy (CP). However, effective multi-collaborator involvement poses challenges. This study used an occupation-based approach to engage community collaborators in developing a CP Task Force to initiate patient-centered comparative clinical effectiveness research and evaluated member perspectives on roles and experiences. A repeated cross-sectional design was employed, with 18 CP Task Force members completing 39 surveys. Engagement activities focused on social participation, leisure, play, education, and work. Surveys assessed team culture, trust, and role satisfaction. Descriptive statistics analyzed survey data, while thematic analysis summarized qualitative responses. Participants reported high satisfaction and engagement. Key themes included inclusivity, effective communication, accessibility, and expanded engagement. Occupation-based engagement can enhance collaboration, build rapport, and create a shared sense of purpose among multi-collaborators when establishing a CP Task Force to support patient-centered comparative clinical effectiveness research.