Retrospective Analysis of the Outcomes of Genetic Testing in Patients Suspected to Have Hereditary Hearing Loss or Deafness.

PURPOSE: Uncorrected hearing loss can result in detrimental sequelae. Research addressing clinical presentation and genetic testing would inform clinical decision making. METHOD: A retrospective chart review of 96 patients aged 1 month to 46 years (median age = 6 years) diagnosed with hearing loss or deafness and who underwent genetic testing at University of Rochester Medical Center from 2011 to 2021. Chi-square and Fisher's exact tests examined the relationship between a diagnostic positive genetic test result and various characteristics of hearing loss, including congenital (n = 52), noncongenital (n = 34), prelingual (n = 53), postlingual (n = 33), progressive (n = 13), not progressive (n = 47), bilateral (n = 67), unilateral (n = 26), sensorineural (n = 68), conductive (n = 14), mixed (n = 5), syndromic (n = 10), and nonsyndromic (n = 87) hearing loss. We also examined the number of patients with presence of developmental disabilities (n = 35), having a first-degree relative with hearing loss (n = 19), having hearing aids or cochlear implants (n = 45), and having a multisystem presentation prior to diagnosis (n = 45). RESULTS: Patients with sensorineural hearing loss (44.1%) had significantly more diagnostic positive results than those with mixed (0%) or conductive hearing loss (21.4%), p = .004. However, significantly fewer patients with disabilities (19.4%) had diagnostic positive tests than those without disabilities (43.3%), p < .05. More patients with a multisystem presentation were also found to have syndromic causes of hearing loss (23.3%) than patients who did not have a multisystem presentation, p < .05. CONCLUSIONS: Our study suggests a significant association between sensorineural type of hearing loss and a diagnostic positive genetic test result, while the presence of disabilities was significantly associated with a nondiagnostic genetic test result. Knowledge of these findings is critical for understanding the cause of the hearing loss, identifying other associated symptoms, and determining risk to family members.

Neurodevelopment in the Congenital Heart Disease Population as Framed by the Life Course Health Development Framework.

BACKGROUND: Adverse neurodevelopment is a common comorbidity associated with congenital heart disease (CHD). The consequences of adverse neurodevelopment are seen across the life course. The cause of adverse neurodevelopment is multifactorial, and use of a life course perspective can assist with understanding and enhancing neurodevelopment in individuals with CHD. PURPOSE: The purposes of this article are to (1) apply the Life Course Health Development framework to neurodevelopment in the population with CHD and (2) discuss how exposure to the pediatric cardiac intensive care unit (PCICU) environment during infancy is a point of intervention for improving neurodevelopmental outcomes. CONCLUSION: Individuals with CHD are at an increased risk for adverse neurodevelopment across the life course. The PCICU environment is a point of intervention for improving neurodevelopmental outcomes. Stress can lead to changes in brain structure and function that are associated with negative outcomes in terms of outward behavioral and functional capacity, and the PCICU environment is a source of stressful stimuli. Infancy is a period of rapid brain growth, and the brain is more susceptible to stress during this period of the life course, putting infants receiving care in the PCICU at an increased risk of adverse neurodevelopment. CLINICAL IMPLICATIONS: Interventions to support optimal neurodevelopment should focus on the PCICU environment during infancy. Developmentally supportive care models should be explored as a means of modifying the PCICU environment. In addition, more research is needed on the relationship between the PCICU and neurodevelopment. The conceptual model introduced can serve as a starting point for this research.

Intersections of phenomenology, voice beliefs and distress in bipolar disorder: a comparison with schizophrenia.

BACKGROUND: Auditory verbal hallucinations (AVH), or voice-hearing, can be a prominent symptom during fluctuating mood states in bipolar disorder (BD). AIMS: The current study aimed to: (i) compare AVH-related distress in BD relative to schizophrenia (SCZ), (ii) examine correlations between phenomenology and voice beliefs across each group, and (iii) explore how voice beliefs may uniquely contribute to distress in BD and SCZ. METHOD: Participants were recruited from two international sites in Australia (BD=31; SCZ=50) and the UK (BD=17). Basic demographic-clinical information was collected, and mood symptoms were assessed. To document AVH characteristics, a 4-factor model of the Psychotic Symptoms Rating Scale and the Beliefs about Voices Questionnaire-Revised were used. Statistical analyses consisted of group-wise comparisons, Pearson's correlations and multiple hierarchical regressions. RESULTS: It was found that AVH-related distress was not significantly higher in BD than SCZ, but those with BD made significantly more internal attributions for their voices. In the BD group, AVH-related distress was significantly positively correlated with malevolence, omnipotence and resistance, However, only resistance, alongside mania and depressive symptoms, significantly contributed to AVH-related distress in BD. DISCUSSION: Our findings have several clinical implications, including identification of voice resistance as a potential therapeutic target to prioritise in BD. Factoring in the influence of mood symptoms on AVH-related distress as well as adopting more acceptance-oriented therapies may also be of benefit.

Equity, diversity, and inclusion at the Global Alliance for Genomics and Health.

A lack of diversity in genomics for health continues to hinder equitable leadership and access to precision medicine approaches for underrepresented populations. To avoid perpetuating biases within the genomics workforce and genomic data collection practices, equity, diversity, and inclusion (EDI) must be addressed. This paper documents the journey taken by the Global Alliance for Genomics and Health (a genomics-based standard-setting and policy-framing organization) to create a more equitable, diverse, and inclusive environment for its standards and members. Initial steps include the creation of two groups: the Equity, Diversity, and Inclusion Advisory Group and the Regulatory and Ethics Diversity Group. Following a framework that we call "Reflected in our Teams, Reflected in our Standards," both groups address EDI at different stages in their policy development process.

Viewing Then Doing?: Problem-Solving Court Coordinators' Perceptions of Medications for Opioid Use Disorders from a Nationally Representative Survey in the United States.

Background. Overdose deaths in the United States (U.S.) surpassed 100,000 in 2021. Problem-solving courts (PSCs), which originally began as drug courts, divert people with nonviolent felonies and underlying social issues (e.g. opioid use disorders (OUDs)) from the carceral system to a community-based treatment court program. PSCs are operated by a collaborative court staff team including a judge that supervises PSC clients, local court coordinators that manage PSC operations, among other staff. Based on staff recommendations, medications for opioid use disorders (MOUDs) can be integrated into court clients' treatment plans. MOUDs are an evidence-based treatment option. However, MOUDs remain widely underutilized within criminal justice settings partially due to negative perceptions of MOUDs held by staff. Objective. PSCs are an understudied justice setting where MOUD usage would be beneficial. This study sought to understand how court coordinators' perceptions and attitudes about MOUDs influenced their uptake and utilization in PSCs. Methods. A nationally representative survey of 849 local and 42 state PSC coordinators in the U.S. was conducted to understand how coordinators' perceptions influenced MOUD utilization. Results. Generally, court coordinators hold positive views of MOUDs, especially naltrexone. While state and local coordinators' views do not differ greatly, their stronger attitudes align with different aspects of and issues in PSCs such as medication diversion (i.e. misuse). Conclusions. This study has implications for PSCs and their staff, treatment providers, and other community supervision staff (e.g. probation/parole officers, court staff) who can promote and encourage the use of MOUDs by clients.

Parent and Carer Skills Groups in Dialectical Behaviour Therapy for High-Risk Adolescents with Severe Emotion Dysregulation: A Mixed-Methods Evaluation of Participants' Outcomes and Experiences.

BACKGROUND: There is an established evidence-base for dialectical behaviour therapy for adolescents (DBT-A) in the treatment of young people with severe emotion dysregulation and related problems, including repeated self-harm and suicidal behaviours. However, few studies have reported on parental involvement in such treatments. This study aims to explore the outcomes and experiences of participants of a dedicated skills group for parents and carers embedded within an adapted DBT-A programme in the United Kingdom. METHOD: This study was conducted within a specialist outpatient Child and Adolescent Mental Health Services (CAMHS) DBT programme in the National Health Service (NHS) in London. Participants were parents and carers of adolescents engaged in the DBT-A programme. Participants attended a 6-month parent and carer skills group intervention and completed self-report measures relating to carer distress, communication and family functioning, at pre-intervention and post-intervention. Following the intervention, semi-structured interviews were also completed with a subgroup of participants to explore their experiences of the skills group and how they perceived its effectiveness. Quantitative and qualitative methods were used to analyse the data collected from participants. RESULTS: Forty-one parents and carers completed the intervention. Participants reported a number of statistically significant changes from pre- to post-intervention: general levels of distress and problems in family communication decreased, while perceived openness of family communication and strengths and adaptability in family functioning increased. A thematic analysis of post-intervention interviews examining participant experiences identified six themes: (1) experiences prior to DBT; (2) safety in DBT; (3) experiences with other parents and carers; (4) new understandings; (5) changes in behaviours; and (6) future suggestions. DISCUSSION: Parents and carers who attended a dedicated DBT skills groups, adapted for local needs, reported improvements in their wellbeing, as well as interactions with their adolescents and more general family functioning, by the end of the intervention. Further studies are needed which report on caregiver involvement in DBT.

Using Nail Salons, Beauty Spas, and Hair Salons for Health Education with Black Women.

A historical lack of access to healthcare and the mistreatment of Black women among those in the medical field have contributed to the health disparities against this group today. Based on existing health disparities affecting Black women, this study examined the feasibility of using nail salons, beauty salons, and hair salons as an avenue for health education efforts for Black women. An online survey was used to reach Black-owned salon workers. A total of 20 female participants completed the survey. Most participants preferred sharing health information with their clients through one-on-one conversations. Eighty percent of participants were willing to receive training on health topics so they could educate their clients. Findings suggest that it is feasible to utilize beauty stylists as lay health workers to promote positive health education among Black women. Further studies are needed to address health topics that clients would be willing to discuss with their stylists.

Did stopping ultrasound surveillance during COVID-19 result in an increase of the dialysis access thrombosis rate?

PURPOSE: The COVID-19 pandemic resulted in cessation and subsequent reduction of routine care including the outpatient ultrasound surveillance of AVF. This un-planned service disruption allowed evaluation of effectiveness of US surveillance in reducing AVF/AVG thrombosis. METHODS: This study was a secondary data analysis of monthly access patency for all in-centre patients receiving haemodialysis using an AVF or AVG over a 2-year period (April 2019-March 2021). The study included 298 patients with age, access type, patency and COVID status measured as variables. Thrombosis rates for the 12 months prior to COVID-19 and then during the first 12 months of the pandemic were also measured. Statistical analysis to assess mean and standard deviation for relevant variables was used. A p-value of <0.05 was deemed significant. RESULTS: At the end of the study an increase in thrombosis rate (%) in the non-surveillance year was observed ((1.20) thrombosis/patient/year in the surveillance group vs (1.68) thrombosis/patient/year in the non-surveillance group). Monthly mean of thrombosed access during surveillance (M = 3.58, 95% CI 2.19-4.98, SD = 2.193) and non-surveillance (M = 4.92, 95% CI 3.52-6.31, SD = 2.19); t(7148) = 2.051, p = 0.038. CONCLUSION: Reduction in routine Ultrasound surveillance following the COVID-19 pandemic was associated with a significant increase in access thrombosis rate. Further research is needed to unpick whether the associations seen were directly due to service changes, associated with COVID-19 or other factors during the pandemic. This association was independent of SARS-CoV-2 infection status. Clinical teams should consider alternative service delivery options including out-reach, bedside surveillance to balance risks of access thrombosis versus reducing the risk of nosocomial infection with hospital visits.

Network analysis reveals a major role for 14q32 cluster miRNAs in determining transcriptional differences between IGHV-mutated and unmutated CLL.

Chronic lymphocytic leukaemia (CLL) cells can express unmutated (U-CLL) or mutated (M-CLL) immunoglobulin heavy chain (IGHV) genes with differing clinical behaviours, variable B cell receptor (BCR) signalling capacity and distinct transcriptional profiles. As it remains unclear how these differences reflect the tumour cells' innate pre/post germinal centre origin or their BCR signalling competence, we applied mRNA/miRNA sequencing to 38 CLL cases categorised into three subsets by IGHV mutational status and BCR signalling capacity. We identified 492 mRNAs and 38 miRNAs differentially expressed between U-CLL and M-CLL, but only 9 mRNAs and 0 miRNAs associated with BCR competence within M-CLL. Of the IGHV-associated miRNAs, (14/38 (37%)) derived from chr14q32 clusters where all miRNAs were co-expressed with the MEG3 lncRNA from a cancer associated imprinted locus. Integrative analysis of miRNA/mRNA data revealed pronounced regulatory potential for the 14q32 miRNAs, potentially accounting for up to 25% of the IGHV-related transcriptome signature. GAB1, a positive regulator of BCR signalling, was potentially regulated by five 14q32 miRNAs and we confirmed that two of these (miR-409-3p and miR-411-3p) significantly repressed activity of the GAB1 3'UTR. Our analysis demonstrates a potential key role of the 14q32 miRNA locus in the regulation of CLL-related gene regulation.

Mid- to late-term follow-up of primary hip and knee arthroplasty: the UK SAFE evidence-based recommendations.

To review the evidence and reach consensus on recommendations for follow-up after total hip and knee arthroplasty. A programme of work was conducted, including: a systematic review of the clinical and cost-effectiveness literature; analysis of routine national datasets to identify pre-, peri-, and postoperative predictors of mid-to-late term revision; prospective data analyses from 560 patients to understand how patients present for revision surgery; qualitative interviews with NHS managers and orthopaedic surgeons; and health economic modelling. Finally, a consensus meeting considered all the work and agreed the final recommendations and research areas. The UK poSt Arthroplasty Follow-up rEcommendations (UK SAFE) recommendations apply to post-primary hip and knee arthroplasty follow-up. The ten-year time point is based on a lack of robust evidence beyond ten years. The term 'complex cases' refers to individual patient and surgical factors that may increase the risk for arthroplasty failure. For Orthopaedic Data Evaluation Panel (ODEP) 10A* minimum implants, it is safe to disinvest in routine follow-up from one to years post-non-complex hip and knee arthroplasty provided there is rapid access to orthopaedic review. For ODEP 10A* minimum implants in complex cases, or non-ODEP 10A* minimum implants, periodic follow-up post-hip and knee arthroplasty may be required from one to ten years. At ten years post-hip and knee arthroplasty, clinical and radiological evaluation is recommended. After ten years post-hip and knee arthroplasty, frequency of further follow-up should be based on the ten-year assessment; ongoing rapid access to orthopaedic review is still required. Complex cases, implants not meeting the ODEP 10A* criteria, and follow-up after revision surgery are not covered by this recommendation.

GA4GH Phenopackets: A Practical Introduction.

The Global Alliance for Genomics and Health (GA4GH) is developing a suite of coordinated standards for genomics for healthcare. The Phenopacket is a new GA4GH standard for sharing disease and phenotype information that characterizes an individual person, linking that individual to detailed phenotypic descriptions, genetic information, diagnoses, and treatments. A detailed example is presented that illustrates how to use the schema to represent the clinical course of a patient with retinoblastoma, including demographic information, the clinical diagnosis, phenotypic features and clinical measurements, an examination of the extirpated tumor, therapies, and the results of genomic analysis. The Phenopacket Schema, together with other GA4GH data and technical standards, will enable data exchange and provide a foundation for the computational analysis of disease and phenotype information to improve our ability to diagnose and conduct research on all types of disorders, including cancer and rare diseases.

A study of disparities in access to genetic care pre- and post-pandemic.

We aimed to explore the delivery of pediatric genetic care before and during the COVID-19 pandemic and assess if disparities in care existed or emerged. We retrospectively reviewed the electronic medical record for patients 18 years old or younger seen in the Division of Pediatric Genetics between September 2019-March 2020 and April-October 2020. Outcomes included time between referral and new visit, recommendation and completion of genetic testing and/or follow-up visit within 6 months, and telemedicine versus in-person format. Outcomes were compared pre- and post-COVID-19 emergence across ethnicity, race, age, health insurance, socioeconomic status (SES), and use of medical interpretation services. Three hundred thirteen total records were reviewed with comparable demographics between cohorts. Cohort 2 had shorter times between referral and new visit, greater telemedicine utilization, and a greater proportion of testing completed. Younger patients tended to have shorter times between referral and initial visit. In Cohort 1, those with Medicaid insurance or no coverage had longer referral-initial visit times. In Cohort 2, there were differences in testing recommendation based on age. For all outcomes, no disparities were observed across ethnicity, race, SES, or use of medical interpretation services. This study characterizes the impact of the pandemic on pediatric genetics care delivery at our center and may have wider implications.

Fathers' Experiences of Caring for a Child with a Chronic Illness: A Systematic Review.

The prevalence of children living with chronic health conditions is increasing worldwide and can disrupt family roles, relationships, function, and parental involvement in family caregiving. The purpose of this systematic review was to explore fathers' experiences and involvement in caring for a child with a chronic condition. Systematic searches using seven databases were conducted. Study criteria included (1) peer-reviewed original research in English, Spanish, French, or Portuguese, (2) children less than 19 years of age with a chronic condition, (3) fathers (biological or guardian) as direct informants, and (4) outcomes addressing fathers' experience, perceptions, and/or involvement in the child's care. Data were synthesized from ten articles reflecting eight separate studies that utilized quantitative designs. Three areas of focus were identified: Family Functioning, Father's Psychological Health, and Need for Support. Data suggested increased involvement from the father in caring for their child with a chronic condition was associated with improved family functioning, increased anxiety and distress, decreased self-esteem, and increased need for support. This review revealed a paucity of data regarding fathers' experiences and involvement when caring for a child with a chronic condition, with that available primarily from developed countries. Rigorous empirical studies are needed to deepen understanding of how fathers are involved in the care of their child with a chronic condition.

Association between outpatient follow-up and incidence of revision after knee and hip replacements: a population-based cohort study.

BACKGROUND: Follow-up visits 5 or 7 years after surgery were recommended for people having primary hip or knee replacement. The benefits of this practice to patients and the healthcare system, however, have not yet been specifically examined. The aim of this study was to investigate the association between long-term follow-up outpatient hospital visits and revision rates for patients who undergo primary knee or hip replacement surgery. METHODS: Cohorts were identified for patients undergoing knee or hip replacement surgery using medical records from primary care practices within the UK Clinical Practice Research Datalink (CPRD) GOLD dataset linked to hospital records from the English Hospital Episodes Statistics (HES) data. Two groups of patients were compared in terms of revision and mortality rates: those with at least one long-term (between five and 10 years since primary surgery) follow-up visit at the orthopaedic department ('Follow-up' group), and those without ('No follow-up' group). RESULTS: A total of 9856 (4349 in the Follow-up group) patients with knee replacement and 10,837 (4870 in the Follow-up group) with hip replacement were included in the analysis. For knee replacement, the incidence of revision was 3.6% for those followed-up and 0.6% for those not followed-up. An adjusted regression model confirmed the difference in the hazard ratio (HR) for revision was statistically significant (HR: 5.65 [95% CI 3.62 to 8.81]). Mortality at 4 years was lower for the Follow-up (17%) compared to the No follow-up group (21%), but this difference was not statistically significant (HR: 0.95 [0.84 to 1.07]). For hip replacement, the incidence of revision rates were 3.2 and 1.4% for the follow-up and not follow-up groups, respectively, the difference being statistically significant (HR: 2.34 [1.71 to 3.20]). Mortality was lower for the Follow-up (15%) compared to the No follow-up group (21%), but the difference was not statistically significant (HR: 0.91 [0.81 to 1.02]). CONCLUSION: Patients attending follow-up orthopaedic consultations show a higher risk of revision surgery compared to those who are not followed-up. A cause for this difference could not be identified in this study but a likely explanation is that surgeons play an effective role as ultimate arbitrators when identifying patients to be included in long-term follow-up lists.

The phenomenology of auditory verbal hallucinations in bipolar disorder.

OBJECTIVES: At least one in four persons with bipolar disorder (BD) are estimated to have experienced auditory verbal hallucinations (AVH) or heard voices at some point. Yet few studies have investigated AVH in detail in this population. This preliminary study examined the phenomenology of AVH in BD to identify commonalities and differences relative to other psychiatric disorders where AVH are commonly reported. METHOD: Twenty-one participants diagnosed with BD were recruited across two international sites in the UK and Australia. All participants underwent a structured clinical interview to verify psychiatric diagnosis and completed standardised measures of symptomatology, including mood states. Phenomenological information of AVH was gathered using select questions from the comprehensive Mental Health Research Institute Unusual Perceptual Schedule (MUPS). RESULTS: AVH experienced by this BD sample were broadly similar in form and content to characterisations reported in the schizophrenia spectrum disorders (SSD) in prior literature, with some exceptions including frequency, duration and the changeability of tone and content. CONCLUSIONS: The study highlights possibly subtle differences in the experience of AVH in BD, including the potential influence of mood congruence as a pertinent clinical feature. Further research into these differences might inform adaptations to existing AVH interventions to ensure they are relevant for BD.

Pandemic Procedures: Adapting Problem-Solving Court (PSC) Operations and Treatment Protocols During COVID-19.

With an ongoing pandemic claiming hundreds of lives a day, it is unclear how COVID-19 has affected court operations, particularly problem-solving courts (PSCs) which have goals rooted in rehabilitation for participants in their programs. Even with practical recommendations from national organizations directing courts on how to manage COVID-19, whether and how PSCs met the needs of PSC participants during this time is underexplored. This study, drawn from a larger national study using a survey of PSC coordinators, examines the COVID-19 responses of PSCs to remain safely operational for participants. A sub-sample of survey respondents (n = 82 PSC coordinators) detailed how the COVID-19 pandemic led to changes to their court and treatment operations amidst the constraints of the pandemic. The courts' shifts in policy and practice have important impacts for court participants' treatment retention and success in the PSC program, and these shifts need more in-depth research in the future.

Medication-Assisted Treatment in Problem-solving Courts: A National Survey of State and Local Court Coordinators.

Problem-solving courts (PSCs) are a critical part of a societal effort to mitigate the opioid epidemic's devastating consequences. This paper reports on a national survey of PSCs (N = 42 state-wide court coordinators; N = 849 local court coordinators) and examines the structural factors that could explain the likelihood of a local PSC authorizing medication-assisted treatment (MAT) and MAT utilization. Results of the analyses indicate that MAT availability at the county level was a significant predictor of the likelihood of local courts authorizing MAT. The court's location in a Medicaid expansion state was also a significant predictor of local courts allowing buprenorphine and methadone, but not naltrexone. Problem-solving courts are in the early stages of supporting the use of medications, even when funding is available through Medicaid expansion policies. Adoption and use of treatment innovations like MAT are affected by coordinators' perceptions of MAT as well as structural factors such as the availability of the medications in the community and funding resources. The study has important implications for researchers, policymakers, and practitioners.