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Down syndrome (DS) is one of the most common birth defects in the United States, the most common genomic disorder of intellectual disability, and results from trisomy 21. This chromosome disorder causes an extensive, heterogenous phenotype that results in a broad presentation of symptoms that includes atlantoaxial instability, congenital heart defects, muscle hypotonia, hypothyroidism, hematologic disorders, recurrent infections, and autoimmune diseases. The autoimmune diseases are caused by immune system dysregulation that results in increased pro-inflammatory cytokines, along with other innate and adaptive immune system dysregulation. This is the likely cause of the increased risk of inflammatory arthritis or Down syndrome-associated arthritis (DA) seen in individuals with DS. Most individuals with DA present with polyarticular (five or more joints with arthritis at presentation of disease), rheumatoid factor and anti-nuclear antibody negative disease that is aggressive with bone and joint damage at presentation. There is notable delay in diagnosis of DA as there are no formal guidelines on screening or monitoring for inflammatory arthritis in individuals with DS. Once diagnosed, and despite aggressive therapy with disease modifying antirheumatic drugs, disease burden is high for those with DA. Therapy can also be challenging for those with DA as many require second and third-line disease modifying therapies. Many also struggle with medication toxicity and ineffectiveness that further causes challenges with management and outcomes. The purpose of this current review is to provide an up-to-date summary of the literature related to DA in children and adolescents with focus on presentation, diagnosis, and management considerations, along with current barriers that inhibit optimal care.

Methotrexate is used to treat autoimmune and oncologic diseases in children with Down syndrome. However, increased methotrexate-related toxicity is reported in this population. We evaluated differences in the concentrations and distribution of erythrocyte folates in children with Down syndrome as a potential basis for this enhanced toxicity.

Arthropathy of Down syndrome (DA) is largely under-recognized, with an average 2-year delay in diagnosis. Most patients present with polyarthritis, and treatment has historically been challenging. Our objective was to investigate the clinical features and treatment of DA in the largest cohort reported to date. In a retrospective chart review at two tertiary care hospitals, International Classification of Diseases, ninth revision, clinical modification (ICD-9-CM) codes for Down syndrome (DS) and juvenile idiopathic arthritis (JIA), between 1 January 1995 and 31 December 2015, were identified and charts reviewed. In total, 43 patients were identified, with an average (± standard deviation [SD]) follow-up period of 6 ± 4.4 years. The average age of symptom onset was 7.4 ± 3.9 years, with a mean delay of 19 ± 17 months from symptom onset to diagnosis. At diagnosis, 77% of patients had morning stiffness and 72% had abnormal laboratory values; there was an average of 15 ± 13 active joints (range 1–56). Treatment approaches varied, and there was a significant decrease in joints with active arthritis (p

BACKGROUND AND OBJECTIVES: The American Academy of Pediatrics recommends periodic oral health risk assessments (OHRAs) for young children to prevent early childhood caries and promote oral health. The objective of this quality improvement project was to incorporate OHRAs, including documentation of the oral screening examination, into well-child visits for patients aged 12 to 47 months to drive (1) improved rates of preventive fluoride varnish (FV) application and (2) improved dental referrals for children at high risk for caries. METHODS: We identified a quality gap in our OHRAs, oral examination completion, FV application rates, and dental referral rates via retrospective data collection. Plan-Do-Study-Act cycles targeted modification of electronic medical record templates, oral health education, and standardization of work processes. Process and outcome measures were analyzed with statistical process control charts. RESULTS: At baseline, OHRAs and oral screening examinations were documented in CONCLUSIONS: A systematic, evidence-based approach to improving oral health, including electronic medical record–based interventions, resulted in improved documentation of oral health risks and oral screening, improved rates of FV application in young children, and increased identification and referral of high-risk patients.

Tools to examine the effects of teaching interventions across a variety of studies are needed. The authors perform a meta-analysis of 24 randomized controlled trials evaluating the effects of teaching on medical students’ patient communication skills. Study quality is rated using a modified Jadad score, and standardized mean difference effect size ( d) measures are calculated. Fifteen of 24 studies have sufficient data for analysis. Students’ ability to establish rapport improves after teaching. The effects are large when the teaching intervention was small group discussion ( n = 5) or giving structured feedback on a student-patient interview ( n = 6). A similar effect of teaching is seen on student data gathering skills ( n = 5). Teaching medical students patient communication skills using small group discussion or providing feedback on a student-patient interview results in improvement in student performance.

Objective. Significant attention has been paid to weight estimation in settings where scales are impractical or unavailable; however, no studies have evaluated the performance of published weight estimation methods in children with Down syndrome. This study was designed to evaluate the predictive performance of various methods in this population with well-established differences in height and weight for age. Methods. This was a prospective study of children aged 0 to 18 years with Down syndrome. Anthropometric measurements including height, weight, humeral length, and mid-upper arm circumference were collected and applied to 4 distinct weight estimation strategies based on age (APLS), length (Broselow), habitus (Cattermole), and length plus habitus (Mercy). Predictive performance was evaluated by examining residual error (RE), percentage error (PE), root mean square error (RMSE), limits of agreement, and intraclass correlation coefficients. Results. A total of 318 children distributed across age, gender, and body mass index percentile were enrolled. APLS and Mercy showed the smallest degree of bias (PE = 7.8 ± 24.5% and −3.9 ± 12.4%, respectively). Broselow suffered the most extreme underestimation (−63%), whereas the APLS suffered the greatest degree of overestimation (107%). Mercy demonstrated the highest intraclass correlation coefficient (0.987 vs 0.867-0.885) and predicted weight within 20% of actual in the largest proportion of participants (88% vs 40% to 76%). All methods were less robust in children with Down syndrome than reported for unaffected children. Conclusions. Mercy offered the best option for weight estimation in children with Down syndrome. Additional anthropometric data collected in this special population would allow investigators to refine existing weight estimation strategies specifically for these children.

PURPOSE After incorporating medical students into pediatric resident night-float teams, the authors studied the effects of the new schedule on (1) cognitive performance, (2) number of new admissions, (3) clerkship satisfaction, and (4) amount and quality of resident teaching. METHOD Part 1 was a retrospective historical controls study. The intervention was a schedule change that eliminated inpatient call. The historical control group had a four-week inpatient schedule of daytime hours plus five calls (DT+C). The comparison group had a schedule of three weeks of daytime hours plus five consecutive overnight shifts (DT+OS). National Board of Medical Examiners (NBME) Pediatrics Subject Exam scores, number of admission history and physicals (HPEs), and clerkship satisfaction data from both groups were compared. Part 2 was a two-item survey with open-ended comments that measured perceptions of resident teaching time and quality of resident teaching (QRT) from students on the DT+OS schedule. RESULTS DT+OS students had a significantly increased number of HPEs (t=2.17; P=.03) compared with the DT+C group (mean=7.49, standard deviation [SD]=3.34 in DT+OS versus mean=6.11, SD=2.95 in DT+C). The paired samples t test showed that students rated QRT significantly higher when on overnights than when they were on daytime hours (t=2.47; P=.02). There were no differences in satisfaction or NBME scores. CONCLUSION Overnight work hours for medical students increased clerkship capacity while maintaining student satisfaction and cognitive performance. Added benefits included increased clinical experience and improved QRT.

OBJECTIVE: To assess the effect of Web-based training (WBT) on resident knowledge of preventive oral health and compare the addition of hands-on training (HOT) to WBT on resident skills, confidence opinions, and practice. METHODS: Pediatric residents participated in a WBT on preventive oral health. After the WBT, subjects were randomly assigned to receive HOT by a dentist (WBT + HOT) or WBT alone. All subjects were assessed on knowledge by a pretest/posttest questionnaire and assessed on skills in the performance of an oral examination by direct observation. Residents' confidence regarding oral health counseling and their opinions about the importance of the incorporation of oral health into the well-child visit were measured by surveys that used a Likert scale. Residents' change in practice was assessed by a retrospective chart audit. RESULTS: Fifty-six residents were included in the analysis (WBT + HOT: 29; WBT: 27). Resident knowledge improved after the WBT from 69% to 81% (95% confidence interval [CI]: 9%–15%). Overall skills improved in the WBT + HOT group participants compared with those in the WBT group (87% vs 73%; difference: 14% [95% CI: 1.2%–26.6%]). Seventy-nine percent of participants in the WBT + HOT group compared with 44% of those in the WBT provided follow-up instructions (relative risk: 0.56 [95% CI: 0.35–0.89]). Resident opinions regarding incorporating preventive oral health into the well-child visit decreased by 33% in the WBT + HOT group compared with 11% in the WBT group (95% CI: 2%–43%). There were no significant differences in confidence regarding preventive oral health and practice between the groups. CONCLUSIONS: Both instructional methods resulted in increases in knowledge, efficacy, and practice of preventive oral health. The addition of hands-on training by a dental provider increased the overall skills of oral examination, but this increase was largely a result of the provision of follow-up instruction.

Trichophyton tonsurans infections occur in various host populations, on various body sites and with varying degrees of inflammation. This investigation was undertaken to determine whether fungal factors could explain the degree of severity in clinical symptomatology among infected children. Otherwise healthy children (n=54) presenting with tinea capitis were enrolled in this study. A thorough history was performed, the extent and severity of infection graded and a fungal specimen collected from each child. Strain type was determined by genotyping for 11 sequence variations in the rDNA and ALP1 loci. Secreted protease activity was quantitated after 5 days of growth in aqueous medium. Forty participants were evaluable. Infection duration ranged from 1 day to 3 years and clinical severity score (CSS) from 4-19. Seventeen unique fungal genotypes were present. Keratinase, collagenase and elastase activity varied 32.7-fold, 64.9-fold and 303.3-fold, respectively. A significant association was observed between genotype and disease severity with the rDNA sequence variations accounting for over 50% of the variation observed in CSS (r2=0.539; P

Background The passage of tissue per vaginam in a young girl raises several diagnostic considerations that include aborted pregnancy, benign polyp, rhabdomyosarcoma, and rarely decidual cast. Case A 9-yr-old girl who was receiving depot medroxy-progesterone acetate to suppress menstruation passed tissue per vaginam. Pathological examination of the tissue showed a decidual cast with no chorionic villi, while a serum hCG test was also negative. Conclusions Decidual cast formation is a rare side effect of progestogen use and should be considered in the differential diagnosis of passage of tissue per vaginam.

Purpose Patients with Down syndrome (DS) have an increased prevalence of arthritis compared to the general population, and often the arthritis is severe and debilitating. In light of the concern for folate deficiency in this patient population, and a clinically observed increased risk for methotrexate (MTX) toxicity, we investigated intracellular folate concentrations in DS patients on methotrexate therapy.