The use of hearing tests to assess otitis media with effusion in children with Down syndrome.

BACKGROUND: Down syndrome is associated with an increased risk for otitis media with effusion (OME), a childhood condition in which fluid accumulates in the middle ear, potentially leading to hearing loss. The American Academy of Pediatrics Down syndrome guidelines and the American Academy of Otolaryngology - Head and Neck Surgery OME guidelines recommend hearing testing to assess the hearing status of children with Down syndrome diagnosed with OME. METHODS: Through an Institutional Review Board approved retrospective chart review at Children's Mercy, this project assessed how clinical factors affect the frequency in which children with Down syndrome receive hearing testing after diagnosis of OME. The study included data from all children with Down syndrome between 1 and 8 years old diagnosed with OME in the Down syndrome, general pediatrics, and otolaryngology clinics between 2018 and 2020. Demographics and clinical factors, including clinic setting, were collected. RESULTS: Of the 124 patients identified, 91.1 % were diagnosed with OME in the otolaryngology clinic and 33.1 % received hearing testing. While most diagnoses occurred in the otolaryngology clinic, a higher proportion of hearing testing at the time of diagnosis occurred in the Down syndrome clinic. This could be explained by the fact that the Down syndrome clinic is a multidisciplinary clinic, where yearly visits include hearing screening. Bivariate analysis using chi-square or Fisher's tests showed that clinic setting had a significant association (p-value <0.001) with hearing testing. However, logistic regression depicted all clinical factors had an insignificant effect on hearing testing at 5 % significance. CONCLUSION: While results indicate hearing testing is largely not performed to assess OME early in otolaryngology clinics, they may be used to assess intervention efficacy post-diagnosis. Results point to the importance of Down syndrome clinics in early diagnosis of hearing loss leading to timely referrals to otolaryngology clinics which diagnose and manage OME in children with Down syndrome.

Normal joint range of motion in children with Down syndrome.

Down syndrome (DS) is one of the most common chromosomal conditions that results in intellectual disability. Children with DS have many different inflammatory and noninflammatory conditions that can affect joint mobility leading to arthralgia and altered joint range of motion (ROM), and it is important to have normal reference values for comparison to determine the degree of impairment. The objective of this study was to establish normative joint ROM values, using a standardized measurement approach, for upper and lower joints of healthy children of both genders with DS. This study evaluated joint ROM in healthy males and females with DS who had no previous musculoskeletal pathology. Younger males have more ROM than females at the same age and both genders lose ROM with age but continue to have increased ROM in the ankles compared to children without DS. This study establishes optimal estimates of joint ROM in children with DS, and this information should be helpful to clinicians when assessment requires evaluation of joint ROM to know if evaluation falls within the normal ROM. This reference should be helpful to track joint disease progression over time or as part of a musculoskeletal screen for abnormal joint ROM in children with DS.

Pneumonia vaccine response in individuals with Down syndrome at three specialty clinics.

Individuals with Down syndrome (DS) have been particularly impacted by respiratory conditions, such as pneumonia. However, the description of co-occurring recurrent infections, the response to pneumococcal immunization, and the association of these was previously unknown. We screened individuals with DS using an 11-item screener and prospectively collected pneumococcal titers and laboratory results. We found that the screener did not successfully predict which individuals with DS who would have inadequate pneumococcal titers. Thirty four of the 55 individuals with DS (62%) had abnormal pneumococcal titers demonstrating an inadequate response to routine immunization. In the absence of a valid screener, clinicians should consider screening all individuals with DS through the use of pneumococcal titers to 23 serotypes to assess vaccine response.

Down Syndrome-Associated Arthritis (DA): Diagnostic and Management Challenges.

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.

Opportunities, barriers, and recommendations in down syndrome research.

BACKGROUND: Recent advances in medical care have increased life expectancy and improved the quality of life for people with Down syndrome (DS). These advances are the result of both pre-clinical and clinical research but much about DS is still poorly understood. In 2020, the NIH announced their plan to update their DS research plan and requested input from the scientific and advocacy community. OBJECTIVE: The National Down Syndrome Society (NDSS) and the LuMind IDSC Foundation worked together with scientific and medical experts to develop recommendations for the NIH research plan. METHODS: NDSS and LuMind IDSC assembled over 50 experts across multiple disciplines and organized them in eleven working groups focused on specific issues for people with DS. RESULTS: This review article summarizes the research gaps and recommendations that have the potential to improve the health and quality of life for people with DS within the next decade. CONCLUSIONS: This review highlights many of the scientific gaps that exist in DS research. Based on these gaps, a multidisciplinary group of DS experts has made recommendations to advance DS research. This paper may also aid policymakers and the DS community to build a comprehensive national DS research strategy.

Assessment and treatment of Down syndrome-associated arthritis: a survey of pediatric rheumatologists.

BACKGROUND: Inflammatory arthritis in children with Down syndrome (DS) was first described in 1984 and is now termed Down syndrome-associated arthritis (DA). Studies have shown that DA is under-recognized with a 19-month average delay in diagnosis. Additionally, most patients present with polyarticular, rheumatoid factor (RF) and anti-nuclear antibody (ANA) negative disease. Current therapies for juvenile idiopathic arthritis (JIA) have been used, but appear to be poorly tolerated, more toxic and less effective in patients with DA. There is currently no standardized approach to the assessment or management of DA. The objective of this study was to describe provider perspectives toward diagnostic and treatment approach of DA, to provide baseline information upon which to design future studies. METHODS: An electronic survey, organized into sections regarding individual practices of assessment and treatment approach of DA, was sent to the Pediatric Rheumatology electronic list-serv. Survey responses were voluntary and results were analyzed by descriptive statistics. RESULTS: Of 90 survey responses received, 89 were included in the analysis (one was a duplicate response). The respondents were mostly pediatric rheumatologist (94%), with greater than 10 years of experience (55%). The majority (64%) currently see 1-3 patients with DA. Most view DA as the same disease as JIA (73%), and the majority (63%) use a combination of history, exam and imaging to diagnose DA. The most ordered diagnostic tests are CBC (97%) and ESR (96%). The most used treatments include NSAIDs (94%) and methotrexate (91%) followed by anti-TNF agents (90%). Methotrexate is most administered by subcutaneous route (84%) at a dose of 15 mg/m2 (56%). Oral corticosteroids were only used in 19% of the patients with DA. CONCLUSION: This is the first study to evaluate provider perspectives towards the diagnostic and treatment approach of DA. Most pediatric rheumatologists feel that DA and JIA are synonymous, and similar approaches to diagnosis are employed, utilizing history, physical exam, laboratory tests, and imaging modalities. DA is treated similarly to JIA with initiation of NSAIDs, disease-modifying anti-rheumatic drugs and biologic therapy. More research is needed to determine optimal screening and therapeutic approach specific to DA.

Altered Folate Homeostasis in Children with Down Syndrome: A Potential Basis for Enhanced Methotrexate Toxicity.

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.

Clinical Features and Treatment of Down Syndrome Arthropathy: Experience from Two US Tertiary Hospitals.

BACKGROUND: 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. OBJECTIVES: Our objective was to investigate the clinical features and treatment of DA in the largest cohort reported to date. METHODS: 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. RESULTS: 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 < 0.001), with 25% and 39% having at least one change in disease-modifying antirheumatic drug (DMARD) and biologic therapy, respectively. DMARD therapy was discontinued in 60% because of side effects, and 39% had inadequate response to first-line biologic therapy. CONCLUSIONS: DA remains under-recognized, with delays in diagnosis and extensive musculoskeletal symptoms at presentation. While DA can improve with current therapy for JIA (corticosteroids, DMARDs, biologics), barriers include medication toxicity, intolerance, and ineffectiveness. Earlier diagnosis through improved screening and more targeted treatment may allow for earlier disease control and better outcomes.

Promoting Oral Health in Childhood: A Quality Improvement Project.

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 <2% of patients. Of eligible children, 42% had FV applied. Routine dental referrals before age 3 years were uncommon. After multiple Plan-Do-Study-Act cycles, documentation of OHRAs and oral screening examinations (process measures) improved to 45% and 73%, respectively. The primary outcome measure, FV rates, improved to 86%. Referral of high-risk patients to a dentist improved to 54%. 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.

Estimating Weight in Children With Down Syndrome.

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.

Can incorporating inpatient overnight work hours into a pediatric clerkship improve the clerkship experience for students?

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.

Effective educational instruction in preventive oral health: hands-on training versus web-based training.

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.

Examining Trichophyton tonsurans genotype and biochemical phenotype as determinants of disease severity in tinea capitis.

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<0.001). Phylogenetic analyses appear to suggest that the ancestral strain types of T. tonsurans cause more severe disease. These observations are consistent with reports that recently diverge anthropophilies are associated with diminished inflammatory involvement.

Decidual cast in a girl receiving depot medroxyprogesterone acetate--a case report.

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.

Teaching patient communication skills to medical students: a review of randomized controlled trials.

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.