Medicine and Health Sciences Commons^™

Terahertz Electromagnetic Effects And Chirality-Induced Spin Selectivity In Dna, F. Matthew Mihelic Md

Faculty Publications

The effects of terahertz electromagnetic stimulation of the DNA molecule can be understood through modeling of the quantum logical mechanics of the DNA molecule.  Coherent conduction of electron spin states along the aromatic nucleotide base pairs and chirality-induced spin selectivity are two characteristics of the DNA molecule that are involved in the precise separation of the double-stranded DNA molecule at a specific location.  Such modeling can inform predictions of DNA strand separation and has significant implications for understanding DNA transcription bubble formation.

What Drives Schoolchildren's Food Choices? Insights From A Gamified Stated-Preference Choice Experiment In Tunisia, Ali Chalak, Christelle Akl, Joanne Haddad, Nehmat El Helou, Sonia Sassi, Houda Ben Gharbia, Rawan Traboulsi, Marc Haber, Jalila El Ati, Hala Ghattas Ph.D.

Faculty Publications

This paper models the drivers of schoolchildren's food choices in urban Tunisia using a gamified Stated-Preference Choice Experiment (SPCE), which includes scenario attributes (food placement, preparation, and price) and contextual factors (parental/peer modeling eating behaviors). A representative sample of 2465 schoolchildren aged 8 to 12 years in Greater Tunis participated in a SPCE, which simulates real-life food choice scenarios on a typical school day. The game includes six nodes (breakfast, recess, lunch, snack on the road to/from school, afternoon snack, dinner) in various locations (home, school, neighborhood). Each choice task includes nine items to choose from (3 beverages, 3 side-meals, …

Perceived Effectiveness Of Cigar Warnings Among Young People In The U.S., Leah M. Ranney, Rime Jebai, Michael Jetsupphasuk, Sonia A. Clark, Kristen L. Jarman, Sarah D. Kowitt, Jim Thrasher Ph.D., Ma, Ms, Adam O. Goldstein, Jennifer Cornacchione Ross

Faculty Publications

Introduction: The effectiveness of warning size and format on cigar packaging in influencing youth and young adult smoking behaviors is not well understood. This study tested these cigar warning characteristics among youth and young adults who use or are susceptible to using little cigars or cigarillos.

Methods: The study recruited 506 U.S. youth and young adults, aged 15−20 years, between April and June 2023. Participants reported ever or past 30-day use of little cigars or cigarillos or were susceptible to using little cigars or cigarillos. A 2 £ 2 between-subjects online experiment was conducted where youth and young adults were …

Exploring Capacity For Future Sustainability Of Healthy Eating Policy, Systems, And Environmental Change Strategies Previously Implemented Through Snap-Ed Programming, Carrie L. Draper, Nicholas Younginer Ph.D.

Faculty Publications

Objective

Design

Setting

Participants

Phenomenon of Interest

Analysis

Results

Phenome-Wide Association Study Of P2rx7 Identifies Schizophrenia And Mood Disorders As Primary Associated Phenotypes, Ling Zhu, Qiao Mao, Zhixiong Luo, Bin Chen, Yong Zhang, Xiaowei Lu, Ping Liu, Jiawu Ji, Xiaoping Wang, Kesheng Wang Phd, Ma, Bs, Xinghua Pan, Yuping Cao, Na Liu, Jennifer Luo, Lingjun Zuo, Zhiren Wang, Xingguang Luo, Xiaoyun Guo

Faculty Publications

Objectives: P2RX7 has been implicated in bipolar disorder, major depressive disorder, schizophrenia, anxiety disorders, Alzheimer's disease, and Parkinson's disease. However, the specificity and comparability of these as sociations remain unclear. This study aimed to systematically evaluate multiple neuropsychiatric disorders to identify those most robustly associated with P2RX7.

Methods: We analyzed 1861 imputed SNPs spanning the P2RX7 gene in 1,087,925 individuals from 72 inde pendent cohorts across 18 neuropsychiatric disorders. SNP-disease associations were assessed within each cohort, followed by meta-analysis and false discovery rate (FDR) correction to identify significant disease-risk variants. P2RX7 mRNA and protein expression across tissues or cells …

Does Patient History Influence Capsular Contracture? An Exploratory Analysis With Machine Learning, Thomas M. Johnstone, Daniel Najafali, Jennifer K. Shaw, Justin M. Camacho, Chancellor Johnstone, Rahim S. Nazerali, Gordon K. Lee

Faculty Publications

Background: Capsular contracture (CC) is a frequent and distressing complication of breast augmentation and reconstruction. Although numerous patient-, surgical-, and implant-related risk factors have been proposed, reliable population-level predictors remain inconsistent across studies. This study evaluates whether administrative medical history, as encoded by ICD and CPT codes, contains sufficient predictive signal to identify patients at risk for CC using machine learning. Methods: Patients were queried from the MerativeTM MarketScan® Research Databases from 2003 to 2017 with CPT codes for implant-based breast reconstruction and augmentation. ICD codes were then used to identify all events and conditions of a patient’s history. Hyperparameter-tuned …

Panda-Plus-Bench: A Clinical Benchmark For Evaluating The Robustness Of Ai Foundation Models In Prostate Cancer Diagnosis, Joshua L. Ebbert, Dennis Della Corte

Faculty Publications

Artificial intelligence foundation models are increasingly deployed for prostate cancer Gleason grading, where GP3/GP4 distinction directly impacts treatment decisions (active surveillance vs. intervention). However, these models may achieve high validation accuracy by learning specimen-specific artifacts rather than generalizable biological features, limiting real-world clinical utility. We introduce PANDA-PLUS-Bench, a curated benchmark dataset derived from expertly annotated prostate biopsies designed specifically to quantify this failure mode. The benchmark comprises nine carefully selected whole slide images from nine unique patients containing diverse Gleason patterns, with non-overlapping tissue patches extracted at both 512 × 512 and 224 × 224-pixel resolutions across eight augmentation conditions. …

Modeling Individual Self-Protective Behavior During Epidemics, Geonsik Yu, Michael J. Garee, Mario Ventresca, Yuehwern Yih

Faculty Publications

Protecting public health from infectious diseases requires collective action, as individual behaviors—such as vaccination and mask-wearing—directly influence disease dynamics. During the COVID-19 pandemic, unexpected public responses often undermined the effectiveness of interventions, highlighting the need to understand collective behavioral patterns and motivations to design more effective mitigation strategies. This study presents an agent-based simulation model that captures how individuals adjust self-protective behaviors based on evolving opinions about disease risk and examines how these decisions interact with external factors, such as public health interventions, to shape collective outcomes. To improve the representativeness of the simulated population, multiple datasets were integrated to …

Association Between Cholinesterase Inhibitor-Overactive Bladder Antimuscarinic Prescribing Cascade And Risk Of Delirium And Falls Among Individuals Living With Dementia, Sarah Beth Tucker, Bryan L. Love Pharm D., Chijoke M. Okeke, Erin D. Zwick, Chengwen Teng Pharm.D., Ph.D., Jingkai Wei, Ibraheem M. Karaye, Saud Alsahali, Krithika Rajagopalan, Ismaeel Yunusa Ph.D.

Faculty Publications

Background

Prescribing cascades occur when cholinesterase inhibitor (ChEI)-induced urinary incontinence is misinterpreted as a new condition, leading to overactive bladder (OAB) antimuscarinic initiation. We evaluated whether the ChEI-OAB antimuscarinic prescribing cascade was associated with delirium or falls compared with mirabegron in older adults living with dementia.

Methods

We conducted a retrospective cohort study using the Anlitiks All-Payor Claims database (2015–2020). Participants were adults aged ≥ 65 years with dementia newly prescribed a ChEI with no prior ChEI or OAB therapy (180 days). A 60-day window identified OAB treatment initiation after ChEI therapy. Exposures were OAB antimuscarinics or mirabegron. Outcomes were …

Use Of Period- Or Fertility-Tracking Technologies Pre- And Post-Dobbs, Emily Neiman, Marta Bornstein Phd, Mph, Abigail Norris Turner, Megan L. Kavanaugh, Maria F. Gallo

Faculty Publications

Objectives

Study design

The Big Five Personality Traits And Perceptions Of Generative Ai In Higher Education: A Canonical Correlation Analysis For Sustainable Digital Education, Mei Jiang, Shifang Tang, Qingwei Wang

Faculty Publications

The purpose of this study was to examine the multivariate relationship between college students’ Big Five personality traits and their perceptions of generative artificial intelligence (AI). Guided by sustainable digital education and expectancy-value theory, this study investigated whether personality profiles were associated with students’ knowledge of AI, attainment value, intrinsic value, utility value, perceived cost, and intention to use AI. Using a cross-sectional survey design, data were collected from 375 students enrolled at a Southwestern doctoral-granting public university. Participants completed an adapted measure of generative AI perceptions and the Big Five Inventory, and canonical correlation analysis (CCA) was conducted to …

Planning For The Transition To Adulthood: Parent Perspectives On The Planning Process And Experiences Of Young Adults With Fragile X Syndrome, Leonard Abbeduto, Jessica Klusek, Julie Lounds Taylor, Angela John Thurman

Faculty Publications

Objectives Relatively few young adults with fragile X syndrome (FXS) meet the normative expectations of adulthood, although there is heterogeneity in this regard. The present study examined the preparation for the transition to adulthood experienced by young adults with FXS and their parents.

Methods Thirty-nine young adults with FXS and their primary caregiving parents participated. Those with FXS were in their last year of, or had recently left, high school or a formal transition program. Parents completed surveys about the formal transition planning process. We examined the role of the young adults’ adaptive behavior skills in transition planning.

Results Among …

Planning For The Transition To Adulthood: Parent Perspectives On The Planning Process And Experiences Of Young Adults With Fragile X Syndrome, Leonard Abbeduto, Jessica Klusek Ph.D., Ccc-Slp, Julie Lounds Taylor, Angela John Thurman

Faculty Publications

Objectives

Relatively few young adults with fragile X syndrome (FXS) meet the normative expectations of adulthood, although there is heterogeneity in this regard. The present study examined the preparation for the transition to adulthood experienced by young adults with FXS and their parents.

Methods

Thirty-nine young adults with FXS and their primary caregiving parents participated. Those with FXS were in their last year of, or had recently left, high school or a formal transition program. Parents completed surveys about the formal transition planning process. We examined the role of the young adults’ adaptive behavior skills in transition planning.

Results

Among …

Psychosocial Mediators Of A Physical Activity And Dietary Intervention In Pregnant Women With Overweight Or Obesity, Meghan Baruth, Sarah Wilcox, Jihong Liu, Rebecca Schlaff

Faculty Publications

Background

Mediation analyses provide insight into both ‘pieces’ of the mediation chain; they allow us to look into the ‘black box’ that is behavior change. They allow researchers to better understand the ‘how’ of an intervention’s effects and/or the ‘why’ behind why an intervention worked or did not work. The lack of publications in pregnant populations highlights the need for additional studies to be conducted and published. The purpose of this study is to examine the psychosocial mediators of physical activity and dietary outcomes in a sample of pregnant women with overweight or obesity participating in the Health in Pregnancy …

Single State Agency Licensure Requirements For Substance Use Disorder Treatment Programs In The United States: Results Of A National Survey, Brooks Yelton Ma, Lmsw, Melissa A. Westlake, Amanda J. Abraham, Colleen M. Grogan, Olivia Hinds, Christina M. Andrews

Faculty Publications

Background

Substance use disorder (SUD) remains a critical public health crisis in the United States, with high prevalence and overdose mortality rates. Despite the availability of effective treatments, including medications that significantly reduce overdose risk, fewer than 20% of Americans with active SUD receive treatment annually. Single State Agencies (SSAs), which oversee federal funding and regulate SUD treatment programs, hold significant authority to impose licensure and reporting requirements intended to promote treatment quality.

Methods

This study presents findings from a national survey of SSAs across 50 states and the District of Columbia (94% response rate) conducted between 2020 and 2021, …

Factors Associated With Lapses In Care Among People Living With Hiv In South Carolina, Xueying Yang Ph.D., Fanghui Shi, Shujie Chen, Gavi Samuel, Bankole Olatosi Ph.D., Sharon Weissman, Xiaoming Li Ph.D., Jiajia Zhang Ph.D.

Faculty Publications

Utilizing statewide electronic health records (EHR) data, this study aims to assess the factors determining the occurrence of lapses in HIV care among people with HIV (PWH) in South Carolina (SC). All adult (≥ 18 years old) PWH who were diagnosed with HIV between 2006 and 2018 with at least two HIV care encounters and at least 1-year follow-up record were included in the analysis. The outcome, a lapse in care, was defined as a repeated measure of HIV care encounter that occurs over a year following the previous visit. Generalized Estimation Equation models were employed. The study cohort had …

Implementation And Costs Of A Food Insecurity Resource Navigation Program For Primary Care Patients With Diabetes And Hypertension In South Carolina, Deeksha Gupta, Darin Thomas, Stella Coker Watson Self Ph.D., Ms, Edward A. Frongillo Jr. Ph.D., Alain H. Litwin, Joseph A. Ewing, Lynnette Ramos-Gonzalez, Lynnette Ramos-Gonzalez

Faculty Publications

Objective

To examine food insecurity resource navigation program costs and how navigation intensity relates to clinical outcomes, healthcare costs, and quality of life (QOL) for diabetes and/or hypertension patients.

Methods

This retrospective study included patients receiving resource navigation (July 12, 2021-December 31, 2022 with twelve-month follow-up) across three primary care practices in South Carolina's largest health system. Participants were 18+ years old (from electronic medical records/Epic), had food insecurity (from Hunger Vital Sign™), and diabetes and/or hypertension (from Epic registries). Matched controls came from food insecurity screening-only practices. Patients in each group (n= 219) had diabetes (9.13%), hypertension …

The Blurred Boundaries Of Care: A Qualitative Analysis Of Nurse-Doula Role Conflict, Curisa Mae Tucker Phd, Rn, Maria Mcclam, Kelly Russin Dnp, Rnc-Ob, Chse, Nansi Boghossian, Rachel Gulczinski, Lauren Workman

Faculty Publications

Introduction:

Methods:

Association Between The Dietary Index For Gut Microbiota (Di-Gm) And Colorectal Cancer In The Plco Cohort, Bezawit E. Kase, Angela D. Liese Ph.D., Jiajia Zhang Ph.D., Elizabeth Angela Murphy, Susan E. Steck Phd, Mph, Rd

Faculty Publications

Objectives: The study aimed to examine the association between a dietary index for gut microbiota (DI-GM) and the risk of incident colorectal cancer (CRC). Clarifying the role of diet-induced alterations in the composition and function of gut microbiota on the development of CRC can contribute to prevention efforts. Methods: Participants from the Prostate, Lung, Colorectal, and Ovarian Cancer Screening trial enrolled in the intervention arm and who completed baseline assessments were included in the analysis (n = 55,685). The DI-GM is a literature-derived index used to score diet quality in terms of maintaining healthy gut microbiota. A time-dependent Cox model …

Association Between The Dietary Index For Gut Microbiota (Di-Gm) And Colorectal Cancer In The Plco Cohort, Bezawit E. Kase, Angela D. Liese, Jiajia Zhang, Elizabeth Angela Murphy, Susan E. Steck

Faculty Publications

Objectives: The study aimed to examine the association between a dietary index for gut microbiota (DI-GM) and the risk of incident colorectal cancer (CRC). Clarifying the role of diet-induced alterations in the composition and function of gut microbiota on the development of CRC can contribute to prevention efforts. Methods: Participants from the Prostate, Lung, Colorectal, and Ovarian Cancer Screening trial enrolled in the intervention arm and who completed baseline assessments were included in the analysis (n = 55,685). The DI-GM is a literature-derived index used to score diet quality in terms of maintaining healthy gut microbiota. A time-dependent Cox model …

Dyadic Internalized Stigma, Resilience, And Psychological Distress Among People With Hiv And Their Family Members: An Actor-Partner Interdependence Mediation Model Analysis, Fanghui Shi, Xueying Yang, Shan Qiao Ph.D., Cheuk Chi Tam Ph.D., M.S., M.A., Shuaifeng Liu, Yuejiao Zhou, Xiaoming Li Ph.D.

Faculty Publications

Despite robust evidence showing the mediation role of psychological resilience in the impacts of HIV-related stigma on psychological distress, most studies were conducted from an intrapersonal perspective. Limited studies have examined the dyadic effects of HIV-related stigma and resilience on psychological distress for people with HIV (PWH) and their family members. This study aimed to explore the actor-partner effect and the mediation role of resilience in the relationship between internalized stigma and psychological distress among PWH and family members dyads. Between October 2023 and December 2023, a total of 800 PWH-family member dyads were recruited from two urban cities and …

A Livelihood Intervention Improved Nutritional, Mental Health And Sexual Health Outcomes Among Hiv-Affected Adolescents In Western Kenya: Results From The Shamba Maisha Randomised Controlled Trial, Sheri D. Weiser, Lila Aziz Sheira, Pauline Wekesa, Jennifer Monroe Zakaras, Edward A. Frongillo Jr. Ph.D., Elly Weke, Jason M. Nagata, Amy A. Conroy, Marguerita Lightfoot, Torsten B. Neilands, Lisa M. Butler, Elizabeth A. Bukusi, Craig R. Cohen, Maricianah Atieno Onono

Faculty Publications

Introduction Interventions that address household-level factors, including food insecurity (FI) and poverty, may reduce HIV risk and improve sexual and reproductive health (SRH) among adolescent girls and young women (AGYW).

Methods This cluster randomised controlled trial in Kenya assessed AGYW living in households of adults enrolled in Shamba Maisha (SM). SM was a multisectoral agricultural livelihood intervention designed to improve HIV health. At the trial end, we used linear and logistic regressions to compare differences between the intervention and control arms in FI, and mental health among AGYW-caregiver pairs and SRH outcomes among the AGYW, accounting for clusters with robust …

What Factors Influence Health Professions Trainees’ Preferences For Employment In Rural Appalachia? A Qualitative Study To Inform The Design Of A Discrete Choice Experiment, Chris Gillette, Jan Ostermann Ph.D., Aylin A. Aguillar, Sarah O'Neal, Chris Everett, Dawn Caviness, Esita Patel, Laiton Steele, Dawn Goel, Quazi Minhaz Tabassum

Faculty Publications

Optimizing the geographic allocation of health care providers has the potential to improve health care access and health outcomes for rural populations. To inform the design of a discrete choice experiment (DCE) survey to elicit health professions trainees' preferences for rural practice, this formative research aimed to: (1) elicit factors that influence job selection among health profession trainees, including medical residents physician assistant (PA) and nurse practitioner (NP) students, (2) identify how these trainees evaluate trade-offs for rural job placement and (3) inform attribute selection for inclusion into a future DCE to identify health professions trainees’ preferences for rural practice. …

Predictors Of Employment Attrition In Lebanon During Multifaceted Crises: The Role Of Chronic Diseases – A National Cross-Sectional Study, Myriam Dagher, Ali Abboud, Ghada E. Saad, Rita Itani, Rindala Fayyad, Hala Ghattas Ph.D., Stephen J. Mccall, Jocelyn Dejong, Malak Ghezzawi, Nisreen Salti, Sasha Fahme, Serena Canaan

Faculty Publications

The COVID-19 pandemic and Lebanon’s ongoing economic crisis exacerbated existing workforce and health disparities. This study explored the predictors of employment attrition during Lebanon’s concurrent crises and examined the association between chronic conditions and employment attrition. This cross-sectional study recruited adults aged 19–64 years residing in Lebanon through random digit dialing (January – July 2024). Data collected included socio-demographics, household characteristics, employment history and characteristics, and self-reported chronic conditions. The outcome was loss of paid employment (employment attrition) during the crises. Predictors were identified through a Least Absolute Shrinkage and Selection Operator (LASSO) regression, and model discrimination and calibration were …

“For Us, Drones Mean Health”: How Medical Drone Delivery Affects Healthcare Outcomes, Accessibility, And Trust In Remote Regions Of Madagascar, Brianne O'Sullivan, Christallin Lydovick Rakotoasy, Lorie Donelle Phd, Rn, Fcan, Nicole Haggerty, Elysée Nouvet

Faculty Publications

Medical drone delivery (MDD), defined as the use of uncrewed aerial vehicles to transport medical products, is an emerging technological innovation responding to persistent health supply chain challenges in rural and low-resource settings. Within sub-Saharan Africa, MDD systems have demonstrated large-scale success in improving key health outcomes, health supply chain efficiency, and reductions in medical product stockouts and wastage. However, the existing evidence base on the effectiveness of this technology is dominated by quantitative, performance-based evaluations, with limited emphasis on the community-driven mechanisms that shape such outcomes. Drawing on original qualitative research, this article presents a qualitative secondary analysis (QSA) …

Dietary Inflammatory Index And Objective Disease Activity In Ibd: No Association Found, Rúbia Moresi Vianna De Oliveira, Ana Carolina Junqueira Vasques, Stefhani Andrioli Romero, Nitin Shivappa Mbbs, Mph, Ph.D., Michael David Wirth, James Hébert Scd, Glaucia Fernanda Soares Ruppert Reis, Cristiane Kibune Nagasako

Faculty Publications

Background

Inflammatory Bowel Disease (IBD) involves genetic and environmental factors, but the relationship between disease activity, adiposity, and diet remains unclear.

Objective

To investigate the association between endoscopic/radiological activity of IBD, body adiposity, and the Dietary Inflammatory Index with or without adjustment for energy density (E-DII or DII).

Method

An observational, cross-sectional study was carried out. Endoscopic activity was defined by an endoscopic Mayo score >2, Crohn’s Disease Endoscopic Index of Severity (CDEIS) > 5, and/or the presence of a deep ulcer in any intestinal segment. Body adiposity was estimated using the body mass index, waist circumference, and waist-hip ratio (WHR). …

Transcranial Alternating Current Stimulation As An Adjuvant For Nonfluent Aphasia: A Proof-Of-Concept Study, Lynsey M. Keator, Lisa Johnson, Roger Newman-Norlund Ph.D., Kyler Spell, Samaneh Nemati, Leigh Ann Spell, Dirk B. Den Ouden, Chris Rorden, Julius Fridriksson Ph.D.

Faculty Publications

Effective rehabilitation tools are essential for improving language outcomes in chronic aphasia. Speech entrainment is a behavioral treatment that has shown promise in enhancing speech output in nonfluent aphasia, potentially by acting as an external mechanism to synchronize anterior and posterior language regions in the left hemisphere. Transcranial alternating current stimulation has been hypothesized to enhance functional connectivity between brain regions by amplifying endogenous oscillations. This proof-of-concept study explored whether high-definition tACS (HD-tACS) could improve speech fluency in nonfluent aphasia when paired with speech entrainment. In a double-blind, pseudorandomized study, 1 mA of HD-tACS at 7 Hz was applied to …

Circulating Levels Of Insulin-Like Growth Factor I (Igf-I) And Risk Of Multiple Myeloma: An Observational And Mendelian Randomisation Study, Yolanda Benavente, Sara Hermosa, Nikos Papadimitriou, Alyssa I. Clay-Gilmour Ph.D., Elizabeth E. Brown, Jonathan N. Hofmann, Nathaniel Rothman, Qin Lan, Sonja I. Berndt, Demetrius Albanes, Mark Purdue, Mitchell J. Machiela, Stephen J. Chanock, Parveen Bhatti, Wendy Cozen, Aaron Norman, Susan L. Slager, James R. Cerhan, Vincent Rajkumar, Et. Al.

Faculty Publications

No abstract provided.

Comprehensive, Multidisciplinary Care For Fragile X-Associated Tremor/Ataxia Syndrome, James A. Bourgeois, Andrea Schneider, Jessica Klusek Ph.D., Ccc-Slp, Thomas R. Christensen, Ellie Levin, Kendall Gardner, Ariel A. Jacobi, Randy J. Hagerman

Faculty Publications

Objective: 

The authors reviewed the pathophysiology, clinical genetics, phenotype, and comprehensive clinical management of Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), a neurodegenerative disorder affecting FMR1 premutation carriers (55–200 CCG repeats).

Participants: 

A multispecialty and multidisciplinary team of authors with backgrounds in psychiatry, pediatrics, clinical psychology, speech and language pathology, and neurosciences.

Evidence: 

Review of English language sources on the clinical phenomenology, genetics, pathophysiology, and clinical management of FXTAS from 2001 (the original report) through 2025, with emphasis on the general medical, psychiatric, and neurological features of FXTAS and its multispecialty and multidisciplinary clinical management.

Consensus process:

All authors contributed to the …

Remote Language Assessment In School-Age Children With Phelan–Mcdermid Syndrome And Genotype–Phenotype Correlation, Sarah Quadri-Valverde, Jessica Klusek Ph.D., Ccc-Slp, Linda D. Ward, Diana Ivankovic, Nancy Powers, Vijay Shankar, Rachel A. Lyman, Trudy F.C. Mackay, William Bridges, Katy Phelan, Chris Rogers, Luigi Boccuto, Sara M. Sarasua

Faculty Publications

People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school-aged children with PMS, identifying genetic contributions to language and communication abilities, and determining the feasibility of remote data collection for research purposes. A speech language pathologist used standardized assessments and direct evaluations by video conferencing to evaluate language and communication abilities. Sixteen children and adolescents were evaluated: 5 with SHANK3 pathogenic variants, 9 with 22q13 deletions including SHANK3 (PMS-SHANK3 related), and 2 …