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Bridging The Gap In Science Research: Preparing Students For College- Level Research In The Sciences, Victoria Helwig, Yaoguang Li Jul 2026

Bridging The Gap In Science Research: Preparing Students For College- Level Research In The Sciences, Victoria Helwig, Yaoguang Li

UConn Library Presentations

Many first-year students enter college unprepared to fully engage with scientific literature and academic library resources. Drawing on experiences from academic librarians working with STEM students, this session explores common gaps in science research skills, including navigating databases, identifying scholarly sources, and understanding the structure of scientific literature. Participants will be introduced to practical strategies and classroom-ready activities to better prepare students for college-level research. Discussion questions: What science research skills do students struggle with most when entering college? How can high school instruction better support these skills? Where can librarians and educators collaborate to support student success?


Rural Youth Activism Amid Multi-Arena Contestations Of Infrastructure, Industry, And Conservation Landscapes, Rajib Gandi, Lala M. Kolopaking, Didin S. Damanhuri, Sofyan Sjaf Jul 2026

Rural Youth Activism Amid Multi-Arena Contestations Of Infrastructure, Industry, And Conservation Landscapes, Rajib Gandi, Lala M. Kolopaking, Didin S. Damanhuri, Sofyan Sjaf

Forest and Society

Rural youth in Indonesia are increasingly entangled in overlapping pressures of industrial expansion and ecological conservation that redefine local livelihoods and participation. In Cigombong, Bogor, West Java, where the Lido Special Economic Zone borders Gunung Gede Pangrango National Park, youth confront intertwined political-economic and ecological exclusions that marginalize them from both development and conservation benefits. While state narratives portray youth as agents of rural transformation, many remain symbolically included but materially excluded from decision-making. This study examines how rural youth activists exercise agency and negotiate structural power within these contested arenas, analyzing how such interactions shape their livelihoods, participation, and …


Supporting Recovery: Intersections Of Health, Belonging, And Help Seeking After A Campus Mass Casualty Event, Sharon Jalene, Jason A. Ciccotelli, Lauren Gatto, Christian Ison, James Carbajal, Andrew Hooyman Jul 2026

Supporting Recovery: Intersections Of Health, Belonging, And Help Seeking After A Campus Mass Casualty Event, Sharon Jalene, Jason A. Ciccotelli, Lauren Gatto, Christian Ison, James Carbajal, Andrew Hooyman

Physical Therapy Faculty Articles and Research

Mass casualty events (MCE), such as campus shootings, can severely impact the mental health of students, faculty, and staff. This study examined the psychological effects of an MCE at a minority-serving institution and explored how sense of belonging, cardiorespiratory fitness, and treatment preferences influenced recovery. To measure the impact of the MCE on mental health an anonymous survey was administered four to five months post-MCE to university students, faculty and staff. Within the survey, participants were asked to retrospectively report their depression (PHQ-9) and anxiety (GAD-7) symptoms as they recalled them two weeks prior to the MCE, and as they …


Temporal Dynamics Of Sleep Value: How Momentary States And Individual Differences Shape The Valuation Of Sleep, Brandon Pattillo Jul 2026

Temporal Dynamics Of Sleep Value: How Momentary States And Individual Differences Shape The Valuation Of Sleep, Brandon Pattillo

Undergraduate Honors Theses

Objectives Sleep value is the relative worth individuals place on sleep. Although previous work has validated trait-level measures of sleep value, little is known about the valuation process that determines sleep’s value over time. This study examined hourly fluctuations in sleep value and identified predictors of these changes.

Methods Ninety undergraduates completed baseline questionnaires assessing demographic, sleep, and health variables, including the Pittsburgh Sleep Quality Index (PSQI), Values Inventory (VI), and Monetary Sleep Value Questionnaire (MSVQ). Participants completed hourly 24-hour surveys assessing activity, activity value/pleasure, sleepiness, sleep ability, sleep/wake desires and intentions, and willingness-to-pay (WTP) for sleep. Confirmatory factor analyses …


Karen Cornish-Adebiyi V. Caesars Entertainment Inc Jul 2026

Karen Cornish-Adebiyi V. Caesars Entertainment Inc

2026 Decisions

USDC for the District of New Jersey


Kantilal Patel V. Attorney General United States Of America Jul 2026

Kantilal Patel V. Attorney General United States Of America

2026 Decisions

Agency


Erik Yarmey V. University Of Pennsylvania Jul 2026

Erik Yarmey V. University Of Pennsylvania

2026 Decisions

USDC for the Eastern District of Pennsylvania


Usa V. Paul Marone Jul 2026

Usa V. Paul Marone

2026 Decisions

USDC for the Western District of Pennsylvania


Examining Variations In Non-Conventional Health Care Utilization Among Students At A Hispanic-Serving Institution, Monideepa B. Becerra, Karina E. Corral Jul 2026

Examining Variations In Non-Conventional Health Care Utilization Among Students At A Hispanic-Serving Institution, Monideepa B. Becerra, Karina E. Corral

Journal of Social, Behavioral, and Health Sciences

The use of non-conventional health care, such as complementary and alternative medicine (CAM) and traditional healing practices, is increasing in the United States. Little is known, however, about its prevalence and influencing factors among college students—especially of varied racial/ethnic background. This study examined these patterns among college students using a cross-sectional survey conducted at a Hispanic-serving institution. Participants reported their use of non-conventional care, and demographic and motivational factors were analyzed using descriptive and bivariate analyses. Of the 641 participants, a majority reported CAM use (96%) and visits to a traditional healer (83%), with higher prevalence among Hispanic and female …


Comment On: Managing Sickle Cell Disease And Related Complications In Pregnancy: Results Of An International Delphi Panel, Deva Sharma, Ilknur Pamuk, Kenneth I. Ataga, Alexandra Benachi, Selim Büyükkurt, Sophie Lanzkron, Hakan Ozdogu, Shivan Pancham, Lydia H. Pecker, Susan E. Robinson, Safak Yilmaz Baran Jul 2026

Comment On: Managing Sickle Cell Disease And Related Complications In Pregnancy: Results Of An International Delphi Panel, Deva Sharma, Ilknur Pamuk, Kenneth I. Ataga, Alexandra Benachi, Selim Büyükkurt, Sophie Lanzkron, Hakan Ozdogu, Shivan Pancham, Lydia H. Pecker, Susan E. Robinson, Safak Yilmaz Baran

Cardeza Foundation for Hematologic Research

Consensus-based recommendations on managing sickle cell disease in pregnancy were recently published in a hematology journal. As this topic is also of great interest to obstetricians and gynecologists, we summarize some of these recommendations, while highlighting the challenges of providing evidence-based medical care to pregnant individuals with sickle cell disease.


From Fields To Flu: Mapping H5n1 Zoonotic Risk In California Rice Fields, Mariati Messinger Jul 2026

From Fields To Flu: Mapping H5n1 Zoonotic Risk In California Rice Fields, Mariati Messinger

Walden Dissertations and Doctoral Studies

Highly Pathogenic Avian Influenza (HPAI) H5N1 threatens agriculture, wildlife, and public health in California, where flooded rice fields in the Central Valley provide surrogate wetland habitat for migratory waterfowl and may create ecological interfaces for viral spillover into poultry systems. This quantitative ecological study examined whether county-level rice acreage, Lesser Snow Goose activity, and their interaction were associated with poultry HPAI H5N1 outbreak incidence during complete winter seasons available for analysis. Guided by One Health and disease ecology frameworks, secondary data from USDA, eBird, PRISM, and public surveillance sources were analyzed for 36 county-winter observations using negative binomial regression, logistic …


Staff Education To Improve Nurse Competency In Phq-9 And Gad-7 Screening Using A Standardized Behavioral Assessment In An Outpatient Mental Health Setting, Ernest Ogbeide Jul 2026

Staff Education To Improve Nurse Competency In Phq-9 And Gad-7 Screening Using A Standardized Behavioral Assessment In An Outpatient Mental Health Setting, Ernest Ogbeide

Walden Dissertations and Doctoral Studies

Evidence-based practice was the basis for this quality improvement project, which involved developing and implementing a staff education program to enhance nurses' competency in administering, scoring, and interpreting behavioral health screening tools (PHQ-9 and GAD-7) for outpatient mental health services. Variability in competency amongst clinical staff to use these standardized screening tools for evaluating anxiety and depression was identified as a problem, as there was no structured, evidence-based education and competency validation process for clinical staff to use, which has the potential to decrease early identification of anxiety and depression among patients and impact clinical assessment and decision-making. The practice …


Incretin-Based Medications In Women And Reproduction: A Systematic Scoping Review And Consensus Guidelines For Clinical Practice, Kate Maslin, Jill Shawe, Sinead Blowers, Michael Ceulemans, Kathryn Hart, Sam Schoenmakers, Amihai Rottenstreich, Heather Hopper, Mojca Jensterle, Angela C. Flynn Jul 2026

Incretin-Based Medications In Women And Reproduction: A Systematic Scoping Review And Consensus Guidelines For Clinical Practice, Kate Maslin, Jill Shawe, Sinead Blowers, Michael Ceulemans, Kathryn Hart, Sam Schoenmakers, Amihai Rottenstreich, Heather Hopper, Mojca Jensterle, Angela C. Flynn

School of Nursing and Midwifery

Introduction: Pregnancy concurrent with incretin-based medications is contraindicated due to unknown risk of teratogenicity, as is breastfeeding. The aim of this systematic scoping review was to investigate potential risks and benefits of incretin-based medications in relation to preconception, pregnancy, and postnatal health, and to propose expert guidelines for clinical practice.Methods: An international expert multidisciplinary group was formed. Research questions relevant to women's reproductive health and incretin-based medications were refined collaboratively, utilizing a lifecourse approach. A systematic search was undertaken on July 23, 2025, across several databases and grey literature sources. Primary data from human studies were prioritized above animal studies. …


Implementation Science Intervention Adaptation To Address Maternal And Neonatal Health In Cameroon, Hanne Sybil Harbison, Henna Budhwani, Comfort Enah, Alan Tita, Eric Wallace, Waldemar Carlo, Mary Glory Ngong, Pius M. Tih, Rahel Mbah Kyeng Jul 2026

Implementation Science Intervention Adaptation To Address Maternal And Neonatal Health In Cameroon, Hanne Sybil Harbison, Henna Budhwani, Comfort Enah, Alan Tita, Eric Wallace, Waldemar Carlo, Mary Glory Ngong, Pius M. Tih, Rahel Mbah Kyeng

International Nursing Research Congress (INRC)

Background: The World Health Organization aims to reduce the global maternal mortality rate (MMR) to less than 70 per 100,000 live births by 2030. Mobile health interventions, particularly those adapted from high income settings, are increasingly recognized for their potential usefulness in addressing gaps to quality maternal and neonatal care in low-income countries. However, few studies protocolize the adaptation process, including stakeholder feedback and side-by-side adjustments required to ensure contextualize relevance.

Design: We used the 8 sequential phases of the ADAPT-ITT framework to iteratively transform the medical intervention service via Telephone (MIST) to mobile phone-based solution (mMIST) intervention, incorporating qualitative …


Trajectories Of Compassion Competence Among Clinical Nurses: A Longitudinal Study, Eunkyo Lee, Sunghee Park, Youngjin Lee Jul 2026

Trajectories Of Compassion Competence Among Clinical Nurses: A Longitudinal Study, Eunkyo Lee, Sunghee Park, Youngjin Lee

International Nursing Research Congress (INRC)

Purpose: This study aimed to identify distinct trajectories of compassion competence among clinical nurses and to examine demographic and psychosocial characteristics associated with each trajectory.

Background: Compassion competence is a vital attribute in nursing practice, encompassing cognitive, emotional, and behavioral capacities that enable empathetic, patient-centered care. Although compassion competence is recognized as essential to both care quality and nurse well-being, limited longitudinal evidence exists on how it develops over time. Identifying its trajectories and influencing factors is crucial for designing interventions that sustain compassionate care and workforce resilience.

Methods: A longitudinal cohort study was conducted with clinical nurses in South …


Determinants Of Patient Health Engagement In Post-Surgery Oral Cancer Patients, Tao-Wen Hsiao, Yu-Chi Chen, Shiow-Ching Shun, Hui-Ying Yang Jul 2026

Determinants Of Patient Health Engagement In Post-Surgery Oral Cancer Patients, Tao-Wen Hsiao, Yu-Chi Chen, Shiow-Ching Shun, Hui-Ying Yang

International Nursing Research Congress (INRC)

Introduction: Patients with oral cancer often face persistent physical and psychological challenges after surgery, which may hinder their engagement in care. Identifying the determinants of patient health engagement (PHE) is essential for guiding targeted, supportive care interventions throughout the treatment trajectory. This study aimed to examine key determinants of PHE among post-surgery oral cancer patients.

Method: A cross-sectional study was conducted at a medical center in northern Taiwan. Postoperative patients were recruited using purposive sampling. Data were collected from medical records and structured questionnaires, including demographics, disease and treatment characteristics, communication ability, psychological distress, and PHE. Descriptive statistics, bivariate analyses …


Marginalized Youths Pathways Into Healthcare: Hands-On Workshops As A Catalyst For Empowerment, James Ehiagwina Jul 2026

Marginalized Youths Pathways Into Healthcare: Hands-On Workshops As A Catalyst For Empowerment, James Ehiagwina

International Nursing Research Congress (INRC)

Background: There is a disparity in the representation of individuals from marginalized and racialized backgrounds across healthcare professions (Keisha et. al, 2022). These disparities reflect ongoing barriers to access and a lack of relatable representation. Engaging workshops in healthcare professions have the ability to foster identification and inspiration for marginalized youths (Kendrick et. al, 2020).

Objective: To address these gaps, the CBNA-YorkU, a student-led organization, developed a summer workshop for marginalized youth to introduce nursing as an achievable career, promote a sense of possibility, and spark interest in post-secondary education.

Description: Building on the success of the 2024 inaugural workshop, …


More Than A Voice: Interpreters As Cultural Brokers In Serious Illness Conversations, Katherine Doyon, Sadia Abdulkadir, Sarah Darney, Sunny Smart, Hannya Ornelas, Alice Mwamba, Adebusola Oluwatoba-Adeyemi Jul 2026

More Than A Voice: Interpreters As Cultural Brokers In Serious Illness Conversations, Katherine Doyon, Sadia Abdulkadir, Sarah Darney, Sunny Smart, Hannya Ornelas, Alice Mwamba, Adebusola Oluwatoba-Adeyemi

International Nursing Research Congress (INRC)

Background: In serious illness and end-of-life care, effective communication is critical to honoring patients’ values and goals. For patients with refugee backgrounds, healthcare encounters may also evoke distress or (re)traumatization due to past experiences of displacement, persecution, or medical mistrust. Interpreters are essential in facilitating understanding and emotional safety. Yet, their role often extends beyond that of neutral language conduits, they act as cultural brokers, bridging cultural and religious divides, buffering emotions, and fostering trust between refugees and the healthcare team.

Objective: To explore how medical interpreters experience their role as cultural brokers in serious illness conversations.

Methods: A 126-minute …


Exploring Adherence Barriers To Nutrition Intervention: A Qualitative Study Of The Pro-Heart Trial, Andrew Thomas Reyes, Angelina Nguyen, Alona D. Angosta, Rebecca Meraz, Kelly L. Wierenga, Jennifer Kawi, Lorraine S. Evangelista Jul 2026

Exploring Adherence Barriers To Nutrition Intervention: A Qualitative Study Of The Pro-Heart Trial, Andrew Thomas Reyes, Angelina Nguyen, Alona D. Angosta, Rebecca Meraz, Kelly L. Wierenga, Jennifer Kawi, Lorraine S. Evangelista

International Nursing Research Congress (INRC)

Altering the dietary habits of individuals with obesity, heart failure, and cardiometabolic comorbidities can enhance their health outcomes (Gjermeni et al., 2025). Adhering to these interventions remains challenging, leading to higher dropout and lower retention rates in clinical nutrition trials (Chao et al., 2021). To develop enduring, patient-focused interventions, it is essential to understand participants' experiences. Therefore, this qualitative sub-study explored participant-reported barriers to dietary adherence within the Pro-HEART randomized controlled trial, which evaluated the effects of high-protein versus standard-protein diets in individuals with heart failure and metabolic syndrome or Type 2 diabetes mellitus. The intervention in the Pro-HEART trial …


A Mathematical Decision-Making Framework For Athlete Development In A Collegiate Taekwondo Community: Prioritizing Coaching Interventions Using Statistical Analysis And The Analytic Hierarchy Process, King Harold A. Recto, Hazel Jade L. Antonio, Jhyrald Anthony P. Dalida Jul 2026

A Mathematical Decision-Making Framework For Athlete Development In A Collegiate Taekwondo Community: Prioritizing Coaching Interventions Using Statistical Analysis And The Analytic Hierarchy Process, King Harold A. Recto, Hazel Jade L. Antonio, Jhyrald Anthony P. Dalida

Electronics, Computer, and Communications Engineering Faculty Publications

Athlete development within collegiate sports communities requires informed decisions regarding the prioritization of coaching interventions and allocation of developmental resources. However, such decisions are frequently guided by experience and intuition, limiting opportunities for systematic and evidence-based decision-making. This study develops a mathematical decision-making framework for athlete development by integrating statistical analysis and the Analytic Hierarchy Process (AHP) within a collegiate taekwondo community. Data were collected from 25 collegiate taekwondo athletes who satisfied established eligibility criteria, including participation in University Athletic Association of the Philippines (UAAP) competitions during the previous three seasons. Athletes evaluated coaching practices across five dimensions: Training and …


The Role Of Media And The Digital World In The Formation Of Digital Identity And First Impressions, Author Information Removed Jul 2026

The Role Of Media And The Digital World In The Formation Of Digital Identity And First Impressions, Author Information Removed

JMLE Submissions Open for Review

This study investigates the relationship between media literacy, identity structures, and social perception among Georgian higher education students and explores how Media Literacy affects the Formation of First Impressions through the mediating roles of Social Identity and Digital Identity. The results demonstrate a strong positive correlation between Media Literacy and both Social Identity and Digital Identity. While the direct link between literacy and impression formation was non-significant. The mediation model revealed a psychological mechanism: Media Literacy significantly reduces superficial reliance on digital profiles only by strengthening a conscious and reflective Digital Identity. In the Georgian context, these findings suggest that …


Accessible Media Literacy Education: A Universal Design For Learning Framework For Including Disabled And Deaf Learners, Author Information Removed Jul 2026

Accessible Media Literacy Education: A Universal Design For Learning Framework For Including Disabled And Deaf Learners, Author Information Removed

JMLE Submissions Open for Review

Media literacy education has built a robust evidence base for interventions that strengthen resilience to misinformation, yet its pedagogies presuppose a nondisabled learner: participants with disabilities are rarely reported, materials are rarely accessible by design, and disability is absent from the field's equity turn. Disabled and deaf learners consequently face a double exclusion, from the media environment by inaccessibility and from media education by protectionist safeguarding. This conceptual article develops the Accessible Media Literacy Education (AMLE) framework through a four-step synthesis of three literatures: media literacy education, research on disabled and deaf people's media practices, and Universal Design for Learning. …


Integration Of Media Pedagogy In Teacher Education Classrooms, Author Information Removed Jul 2026

Integration Of Media Pedagogy In Teacher Education Classrooms, Author Information Removed

JMLE Submissions Open for Review

In an era where classrooms are increasingly influenced by media and socio-cultural dynamics, teacher education must evolve to incorporate critical dimensions like gender sensitization and media literacy. This study explores the role of media pedagogy in developing gender awareness among pre-service teachers in India. The study focuses on conceptualization of media pedagogy, intersectionality and teacher education classrooms and adopts an interdisciplinary approach for media and gender. A module was developed and then implemented with 30 preservice teachers, followed by focus group discussions and semi-structured interviews with 10 teacher educators. The research study is guided by Methodology for Interdisciplinary Research (MIR) …


What Counts As Data? Empirical Legal Research With India’S Ecourts Portal, Lubhyathi Rangarajan, Sakshi Rai, Nikita Bansal Jul 2026

What Counts As Data? Empirical Legal Research With India’S Ecourts Portal, Lubhyathi Rangarajan, Sakshi Rai, Nikita Bansal

Socio-Legal Review

This Notes from the Field (‘NFF’) studies an attempt to build a nationwide dataset of cases instituted under the Unlawful Activities (Prevention) Act, 1967 using the eCourts portal, an open access state-led digital repository of all judicial records across India. It uses this experimental attempt to create new methodological and epistemological ways of thinking about data when undertaking socio-legal research. The paper argues that the appearance of judiciary-led digital transparency and visibility masks deeper concerns with data integrity. Through a process of manual data extraction across than 3,647 court complexes on the eCourts portal, the study reimagines technical failures and …


Solvent-Dependent Cytotoxicity Of Peperomia Pellucida Leaf Extracts Against Mcf-7 Breast Cancer Cells, Ade Arsianti, Rafael Erlangga Bagas Pratama, Steven Gill, Diyah Kristanty Jul 2026

Solvent-Dependent Cytotoxicity Of Peperomia Pellucida Leaf Extracts Against Mcf-7 Breast Cancer Cells, Ade Arsianti, Rafael Erlangga Bagas Pratama, Steven Gill, Diyah Kristanty

Indonesian Journal of Medical Chemistry and Bioinformatics

Background: Breast cancer remains a major global health burden. Particularly in Indonesia, limitations of conventional chemotherapy, such as severe side effect, toxicity, and high cost, indicating the necessitate the development of alternative therapeutic agents. Peperomia pellucida, a medicinal plant rich in bioactive phytochemicals, has shown promising anticancer potential; however, its cytotoxic activity against MCF-7 breast cancer cells and the influence of solvent polarity remains underexplored. This study aimed to evaluate the cytotoxic effects of P. pellucida leaf extracts which are prepared using different polarity of solvents (ethanol, ethyl acetate, and n-hexane).

Method: Dried leaf powder of P. pellucida was …


Environmental Dna For Endangered Freshwater Mussel Monitoring: A Review On Global Synthesis Of Edna Methods, Challenges, And Innovative Strategies, Mizanur Rahman, Md. Saydur Rahman, Richard J. Kline Jul 2026

Environmental Dna For Endangered Freshwater Mussel Monitoring: A Review On Global Synthesis Of Edna Methods, Challenges, And Innovative Strategies, Mizanur Rahman, Md. Saydur Rahman, Richard J. Kline

School of Earth, Environmental, & Marine Sciences Faculty Publications

Freshwater mussels (family Unionidae) are among the most endangered aquatic species worldwide, making effective monitoring vital for their conservation. Traditional surveys are laborious, time-consuming, and often miss rare or low-density populations. Environmental DNA (eDNA) is a highly sensitive, non-invasive approach for freshwater mussel detection and monitoring; however, uncertainties in ecological interpretation continue to limit its broader application in freshwater biodiversity monitoring. We conducted a systematic review of 49 peer-reviewed studies, identified through an extensive literature search, to assess temporal research trends, methodological advancements, ecological contexts, and regulatory readiness of freshwater mussel eDNA monitoring. Findings show that freshwater mussel eDNA research …


Christopher Warman V. Local Yokels Fudge Llc Jul 2026

Christopher Warman V. Local Yokels Fudge Llc

2026 Decisions

USDC for the Western District of Pennsylvania


"It's Probably Like A Web": Complex Relationships Between Pain And Mental Health Among Bisexual+ Women With Chronic Pain, Aster Harrison, Mansha Mirza Jul 2026

"It's Probably Like A Web": Complex Relationships Between Pain And Mental Health Among Bisexual+ Women With Chronic Pain, Aster Harrison, Mansha Mirza

Department of Occupational Therapy Faculty Papers

INTRODUCTION: Bisexual+ women experience higher rates of both mental illness and chronic pain when compared to either straight or lesbian women. Their experiences of the relationship between their mental health and chronic pain remain underexplored. This article presents an intersectional Interpretive Phenomenological Analysis of the experiences of six bisexual+ women with chronic pain.

METHODS: Each woman completed two semi-structured interviews. Interviews were analyzed with Interpretive Phenomenological Analysis, beginning with in-depth case study analysis of each person's interviews before moving to comparison across cases.

RESULTS: Results indicated a complex web of multidirectional relationships between mental health and chronic pain. These relationships …


Lessons From A Medically Tailored Meals Program, Rachel Filippone, Evan England, Tyrus Parker, Harshita Sarup, Jess Carson Jul 2026

Lessons From A Medically Tailored Meals Program, Rachel Filippone, Evan England, Tyrus Parker, Harshita Sarup, Jess Carson

Carsey Publications

After a pilot program in 2021, the New Hampshire Food Bank launched a full medically tailored meals program in 2023, which is evaluated in this brief.


Clinical Phenotypes Associated With Nrxn1 Deletions In Five Children With Autism Spectrum Disorder In Oman, Samira Said Alhousni, Ahmed Idris, Watfa Al-Mamari, Abeer Al-Sayegh Jul 2026

Clinical Phenotypes Associated With Nrxn1 Deletions In Five Children With Autism Spectrum Disorder In Oman, Samira Said Alhousni, Ahmed Idris, Watfa Al-Mamari, Abeer Al-Sayegh

Sultan Qaboos University Medical Journal

NRXN1 (2p16.3) is essential for synaptic function and has been implicated in autism spectrum disorder (ASD) and other neurodevelopmental disorders. However, the phenotypic features associated with NRXN1 copy number variants remains incompletely characterised, which complicates risk assessment in genetic counselling. This case series describes five children, who were evaluated at the Genetics and Developmental Pediatrics Clinic of a tertiary care hospital in Muscat, Oman, from 2011 to 2023, with rare NRXN1 deletions (57–150 kb). All met DSM-5 criteria for ASD and had speech and language delays with cognitive impairment. Consanguinity was reported in three of the families and two had …