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.

Heparan sulfate modified proteins affect cellular processes central to neurodegeneration and modulate presenilin function.

Mutations in presenilin-1 (PSEN1) are the most common cause of familial, early-onset Alzheimer's disease (AD), typically producing cognitive deficits in the fourth decade. A variant of APOE, APOE3 Christchurch (APOE3ch) , was found associated with protection from both cognitive decline and Tau accumulation in a 70-year-old bearing the disease-causing PSEN1-E280A mutation. The amino acid change in ApoE3ch is within the heparan sulfate (HS) binding domain of APOE, and purified APOEch showed dramatically reduced affinity for heparin, a highly sulfated form of HS. The physiological significance of ApoE3ch is supported by studies of a mouse bearing a knock-in of this human variant and its effects on microglia reactivity and Aß-induced Tau deposition. The studies reported here examine the function of heparan sulfate-modified proteoglycans (HSPGs) in cellular and molecular pathways affecting AD-related cell pathology in human cell lines and mouse astrocytes. The mechanisms of HSPG influences on presenilin- dependent cell loss and pathology were evaluated in Drosophila using knockdown of the presenilin homolog, Psn , together with partial loss of function of sulfateless (sfl) , a homolog of NDST1 , a gene specifically affecting HS sulfation. HSPG modulation of autophagy, mitochondrial function, and lipid metabolism were shown to be conserved in cultured human cell lines, Drosophila , and mouse astrocytes. RNAi of Ndst1 reduced intracellular lipid levels in wild-type mouse astrocytes or those expressing humanized variants of APOE, APOE3 , and APOE4 . RNA-sequence analysis of human cells deficient in HS synthesis demonstrated effects on the transcriptome governing lipid metabolism, autophagy, and mitochondrial biogenesis and showed significant enrichment in AD susceptibility genes identified by GWAS. Neuron-directed knockdown of Psn in Drosophila produced cell loss in the brain and behavioral phenotypes, both suppressed by simultaneous reductions in sfl mRNA levels. Abnormalities in mitochondria, liposome morphology, and autophagosome-derived structures in animals with Psn knockdown were also rescued by simultaneous reduction of sfl. sfl knockdown reversed Psn- dependent transcript changes in genes affecting lipid transport, metabolism, and monocarboxylate carriers. These findings support the direct involvement of HSPGs in AD pathogenesis.

Qualitative Study Assessing Factors for 30-day Readmissions: A Head and Neck Oncology Cohort.

OBJECTIVES: There is a paucity of literature on what contributes to 30-day readmission rates from the patient's perspective in head and neck cancer patients. Post-operatively, these patients are often discharged with multiple surgical sites and home equipment requiring education and a large responsibility upon arriving home. Patients have a unique understanding of the discharge process and rationale behind presenting for care following initial discharge. Understanding the experience of the readmitted patient may be critical in finding effective methods to prevent unnecessary readmissions. METHODS: Through key-informant interviews, we assessed factors that impact readmission rates from the patient perspective. Patients were eligible if they were discharged within the last 30 days and subsequently readmitted following an admission for a head and neck cancer surgery. Inductive coding was used to analyze interview transcripts and develop themes. RESULTS: Thirteen respondents were interviewed. 46% (n = 6) did not feel ready for discharge after the index admission. Out of these 6 patients, 83% (n = 5) felt their readmission could have been avoided. Patients often encountered unexpected events after returning home from the index admission and felt their readmissions were potentially avoidable with more information regarding what to expect at home, prior to discharge. Although medically stable upon discharge, these findings indicate some patients might be discharged sooner than they should be due to factors outside of medical indications. CONCLUSIONS: To address the various biopsychosocial components of patient care in addition to medical aspects, an otolaryngology-specific, prior-to-discharge checklist could aid in lowering 30-day readmissions. Since the amount of education each patient requires to feel competent managing their health at home varies, more work is needed to craft post-education assessments of patient/caregiver competencies for home equipment, prior to discharge to reduce avoidable readmissions.

The impact of primary care access on autism spectrum disorder awareness in an underserved population.

American Academy of Pediatrics (AAP) recommendations for Autism Spectrum Disorder (ASD) screening do not specifically address safety-net clinics, which provide multidisciplinary healthcare services to underserved patients. This project explored the potential for ASD screening in safety-net clinics by assessing parental perceived knowledge of ASD at JayDoc Free Clinic, a student-run safety-net clinic in Wyandotte County, Kansas. May through December 2022, patients who reported to be the parent of a minor received a demographic survey and a Likert-style questionnaire assessing perceived knowledge of ASD, including understanding the importance of ASD screening and ASD signs and symptoms. Responses were categorized into positive, negative, and unsure. Demographic variables included the minor's primary care provider (PCP) status. Results were analyzed using bivariate analysis, with chi-square tests for significance (p-value ≤ 0.05). Of the 52 participants who completed at least one Likert response, 55.8% reported their child had a PCP. Responses were somewhat balanced with 44.2% positive for understanding the importance of ASD screening and 53.8% positive for understanding ASD signs and symptoms. For understanding the signs and symptoms of ASD, an unsure response (32.7% of responses) was statistically associated with a lack of PCP (p = 0.017). The balance of positive with negative and unsure responses could reflect lack of ASD knowledge and may relate to healthcare inaccessibility. This is consistent with the significant association between lack of PCP and unsure responses for understanding ASD signs and symptoms. ASD screening and education in safety-net clinics like JayDoc could be valuable, particularly for children without a PCP.