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Full-Text Articles in Pediatrics

Diabetter Together: Outcomes Of A Randomized Controlled Trial Evaluating A Peer Mentor Behavioral Intervention For Young Adults With Type 1 Diabetes During The Transfer From Pediatric To Adult Care, Marisa E Hilliard, Charles G Minard, Samantha A Carreon, Wendy L Levy, Sarah K Lyons, Randi Streisand, Tricia S Tang, Siripoom V Mckay, Sridevi Devaraj, Barbara J Anderson Aug 2026

Diabetter Together: Outcomes Of A Randomized Controlled Trial Evaluating A Peer Mentor Behavioral Intervention For Young Adults With Type 1 Diabetes During The Transfer From Pediatric To Adult Care, Marisa E Hilliard, Charles G Minard, Samantha A Carreon, Wendy L Levy, Sarah K Lyons, Randi Streisand, Tricia S Tang, Siripoom V Mckay, Sridevi Devaraj, Barbara J Anderson

Faculty, Staff and Students Publications

Objective: Transition between pediatric and adult health care is complex, with high risk for loss to follow-up and suboptimal health outcomes for young adults with type 1 diabetes. This trial evaluated the efficacy of DiaBetter Together, a 12-month strengths-based behavioral intervention delivered by trained peer mentors. The intervention aimed to help young adults navigate the transfer process to promote optimal glycemic outcomes, shorten time to adult care follow-up, and improve psychosocial outcomes.

Research design and methods: Using a single-site randomized clinical trial design, we compared the 12-month intervention to usual care among n = 100 young adults aged 17-25 years …


The Legacy, Importance, & Impact Of Lend: Evidence And Personal Stories, Emily Zalimeni, Emma Stone, Alexa Fortier, Leia Getchell, Nataliya Kloyzner, Asha Abdullahi, Elizabeth Barkoudah, Meghan Chapman, Meredith Close, Heather Engholm, Melissa Levin, Aanchal Sharma, Sarah Sparks, Patricia Rissmiller, Amy Szarkowski, Jason M. Fogler Jul 2026

The Legacy, Importance, & Impact Of Lend: Evidence And Personal Stories, Emily Zalimeni, Emma Stone, Alexa Fortier, Leia Getchell, Nataliya Kloyzner, Asha Abdullahi, Elizabeth Barkoudah, Meghan Chapman, Meredith Close, Heather Engholm, Melissa Levin, Aanchal Sharma, Sarah Sparks, Patricia Rissmiller, Amy Szarkowski, Jason M. Fogler

Developmental Disabilities Network Journal

Leadership Education in Neurodevelopmental and related Disabilities (LEND) programs offer an interdisciplinary/interprofessional training opportunity for medical and allied health professionals, and individuals impacted by disability, including family members and self-advocates. Toward the aim of advocating for the enduring need of LEND and similar training programs, this article centers the voices of a subset of our alumni who have advanced the rights and improved the lives of persons with intellectual and developmental disabilities. These stories are intended to illustrate the key lessons and principles of LEND training, including attending to disability issues in education, growing skills within and between individuals working …


Determinants Of Corporal Punishment And Severe Physical Punishment In Egypt: A Mixed-Methods Analysis For Child Protection Policy, Marwa Moustafa Nassef Jun 2026

Determinants Of Corporal Punishment And Severe Physical Punishment In Egypt: A Mixed-Methods Analysis For Child Protection Policy, Marwa Moustafa Nassef

Theses and Dissertations

Corporal punishment (CP) and severe physical punishment (SPP) remain a major public health, child rights, and child protection policy concern. In Egypt, despite legislative reforms, survey-weighted analysis of the 2021 Egypt Family Health Survey (EFHS) 2021 (CAPMAS, 2022) reveals prevalence rates of 60.5% for CP and 27.4% for SPP among children aged 1–14 (author’s calculations using EFHS-2021, n=7623), yet evidence distinguishing the determinants of routine corporal punishment from escalation to severe physical punishment remains limited in low- and middle-income contexts. Guided by Bronfenbrenner’s ecological framework, this mixed-methods study identifies key drivers of CP and its escalation to SPP among Egyptian …


Cross-Cultural Differences Among Children And Youth With Special Health Care Needs: A Mixed-Methods Analysis Of Chinese, Spanish, And English-Speaking Families, Kathleen Mcgrath, Miriam Franco, Amy Morales-Lara, Karen Bonuck Phd, Joanne Siegel Jun 2026

Cross-Cultural Differences Among Children And Youth With Special Health Care Needs: A Mixed-Methods Analysis Of Chinese, Spanish, And English-Speaking Families, Kathleen Mcgrath, Miriam Franco, Amy Morales-Lara, Karen Bonuck Phd, Joanne Siegel

Developmental Disabilities Network Journal

One in five U.S. children has a special health care need, with prevalence rates rising each year. Children and youth with special health care needs (CYSHCN) from immigrant and/or non-English speaking families face heightened barriers to care, unmet health needs, and worsened health outcomes. This mixed-methods study explores cross-cultural similarities and differences among English-, Spanish-, and Chinese-speaking families of CYSHCN across four key domains – (1) the diagnostic process, (2) access to essential services, (3) community integration, and (4) social supports. As part of a statewide, New York State Department of Health funded initiative implemented across three University Centers for …


Navigating The Nicu Without Words: A Case Study Of A Spanish-Speaking Mother’S Healthcare Experience, Emma Norris May 2026

Navigating The Nicu Without Words: A Case Study Of A Spanish-Speaking Mother’S Healthcare Experience, Emma Norris

Poster Presentations

Research on NICU experiences largely focuses on majority-language families; non-English-speaking families are understudied (Cleveland, 2008). The Family Integrated Care model promotes parent-infant connection and shared decision-making to improve outcomes (Wreesmann et al., 2020). Language barriers impede parent-provider communication, increasing miscommunication and parental anxiety (Kynoe et al., 2020; Ardal et al., 2011). The purpose of this research is to explore communication experiences and barriers between English-speaking and bilingual NICU nurses and a Spanish-speaking NICU mother.


A Mild Case Of Pseudoachondroplasia In A Child: Lessons For Long-Term Primary Care, Alec J. Pupo D.O., Connor J. Stinson D.O., Autumn Dye D.O. Apr 2026

A Mild Case Of Pseudoachondroplasia In A Child: Lessons For Long-Term Primary Care, Alec J. Pupo D.O., Connor J. Stinson D.O., Autumn Dye D.O.

The Journal of Integrated Primary Care

Background: Pseudoachondroplasia (PSACH) is a rare autosomal dominant skeletal dysplasia caused by pathogenic variants in the cartilage oligomeric matrix protein (COMP) gene. It is classically characterized by early-onset growth failure, disproportionate short stature, progressive epiphyseal dysplasia, and premature degenerative joint disease. Although phenotypic variability has been reported, PSACH is often regarded as a uniformly severe condition with predictable orthopedic morbidity.

Case Presentation: We report an eleven-year-old female with genetically confirmed PSACH who demonstrates an unexpectedly mild clinical phenotype, despite a maternal history of severe disease requiring bilateral total hip replacement during adolescence. The patient exhibited mild hip dysplasia, evolving genu …


Evaluating Sensory Sensitivities Among Children With Autism Spectrum Disorder In An Adaptive Gymnastics Program, Aicha Kaouss, Bradley Eppinger, Austin Ebbrecht, Kailash Ram, Kaitlin P. Hardy Md Mar 2026

Evaluating Sensory Sensitivities Among Children With Autism Spectrum Disorder In An Adaptive Gymnastics Program, Aicha Kaouss, Bradley Eppinger, Austin Ebbrecht, Kailash Ram, Kaitlin P. Hardy Md

Knowledge and Creativity Expo

Introduction: Children with autism spectrum disorder (ASD) participate in physical activity at lower rates than their neurotypical peers1. Sensory sensitivities, reported in approximately 75–95% of children with ASD, may contribute to this disparity2. Gymnastics environments involve bright lighting and loud noise, which can precipitate sensory overload. The impact of specific sensory features on participation in adaptive gymnastics remains underexplored.

Methods: A cross-sectional study recruited caregivers of children aged 3–12 years with an ASD diagnosis enrolled in the EVMS Adaptive Gymnastics Program. Caregivers completed the Sensory Experiences Questionnaire–Third Edition (SEQ-3)3 and supplemental survey items on Redcap which assessed environmental triggers and …


Mom Is Developing Too: Preliminary Evidence For The Reciprocal Effects Of Infant Sensory Reactivity And Maternal Behavior, Emily C. Sweiss, Vincent Berardi, Elysia Poggi Davis, Curt A. Sandman, Laura M. Glynn Feb 2026

Mom Is Developing Too: Preliminary Evidence For The Reciprocal Effects Of Infant Sensory Reactivity And Maternal Behavior, Emily C. Sweiss, Vincent Berardi, Elysia Poggi Davis, Curt A. Sandman, Laura M. Glynn

Psychology Faculty Articles and Research

Caregiver sensitivity to infant cues is well-established as a predictor of child development. Infants also actively influence their social environment, especially their caregivers, even from their earliest days. Sensory reactivity, characterized as hypo- (under) and hyper- (over) responding to environmental stimuli, is one domain of development that is likely to influence caregiver-infant interaction, due to its role in regulating emotions and responses to both physical and social stimuli. Although sensory reactivity could be an important target for improving caregiver-child interaction, the longitudinal, reciprocal relations between infant sensory reactivity and caregiver behaviors are currently unknown. In the present proof-of-concept study, we …


Causal Effect Estimates Of Online E-Cigarette Marketing Exposure On Future E-Cigarette Harm Perception And Use, Paul T. Harrell, Nicholas T. Williams, Kara E. Rudolph, Rachel Ayala Guzman, Ateeqa Ijaz, Nicole Rychagov, Aaron Null, Silvia S. Martins Jan 2026

Causal Effect Estimates Of Online E-Cigarette Marketing Exposure On Future E-Cigarette Harm Perception And Use, Paul T. Harrell, Nicholas T. Williams, Kara E. Rudolph, Rachel Ayala Guzman, Ateeqa Ijaz, Nicole Rychagov, Aaron Null, Silvia S. Martins

Department of Pediatrics Faculty Publications

Background

Globally, over 10 million youth use e-cigarettes; United States use, in particular, dramatically rose in the late 2010's, exceeding year-over-year increases from any other substance in over four decades. This rise has been partially attributed to youth online e-cigarette marketing exposure, but has not been appropriately studied.

Methods

We examined youth data from the Population Assessment of Tobacco and Health (PATH) spanning the dramatic increase period (Waves 4, 4.5, and 5; 2016-2019). We estimated average risk differences (RD) for Wave 5 e-cigarette harmfulness perception and use comparing all youth versus no youth reporting past-month online e-cigarette marketing exposure in …


Mediating Effect Of Social Determinants Of Health Between Race And Phthalate Biomarkers In Pregnancy, Tetsuya Kawakita, Misa Hayasaka, Carole Barake, Trinity Soto, Jillian Fleming, Amir Lueth, Stevens Danielle, Alfred Abuhamad, Ann Pryzybylska, Elena Sinkovskaya, Kelly K. Ferguson, George Saade Jan 2026

Mediating Effect Of Social Determinants Of Health Between Race And Phthalate Biomarkers In Pregnancy, Tetsuya Kawakita, Misa Hayasaka, Carole Barake, Trinity Soto, Jillian Fleming, Amir Lueth, Stevens Danielle, Alfred Abuhamad, Ann Pryzybylska, Elena Sinkovskaya, Kelly K. Ferguson, George Saade

Department of Obstetrics & Gynecology Faculty Publications

Introduction

Prenatal phthalate exposure is linked to adverse reproductive and developmental outcomes and is consistently higher among non‐Hispanic Black compared to non‐Hispanic White pregnant individuals, yet the factors responsible for these disparities are poorly characterized. We sought to quantify Black–White differences in repeated urinary concentrations of phthalate biomarkers during pregnancy and to estimate the extent to which neighborhood‐level social determinants of health (SDoH) mediate these disparities.

Methods

This secondary analysis used data from the Human Placenta Project Study, a prospective observational cohort study conducted at two academic institutions between 2016 and 2018. Eligible participants had singleton pregnancies, were recruited before …


Assessing Education And Training Of Developmental Screening Tools Among Residents In A Southern Academic Medical Center, Paige Seabrook, Dustin E. Sarver, Susan Buttross Dec 2025

Assessing Education And Training Of Developmental Screening Tools Among Residents In A Southern Academic Medical Center, Paige Seabrook, Dustin E. Sarver, Susan Buttross

Journal of Public Health in the Deep South

Background: Developmental disabilities are highly common. Early identification of developmental disabilities is critical, but many practitioners, including those in Southern U.S. states like Mississippi, do not utilize developmental screening tools.

Purpose: We aimed to identify modifiable targets within resident training experiences and their correlates using a quality improvement approach to serve as a baseline for intervention efforts.

Methods: Medical residents (N = 57) in pediatrics (n = 26), combined medicine-pediatrics (n = 12), and family medicine (n = 19) completed a survey assessing training, attitudes, practices, and perceived barriers regarding using screening tools. Perceived barriers were …


Acceptability Of Corticosteroid Use In The Treatment Of Infant Bronchiolitis: Utilizing The Theoretical Framework Of Acceptability To Design Research Instruments, Caroline R. Smetanka Dec 2025

Acceptability Of Corticosteroid Use In The Treatment Of Infant Bronchiolitis: Utilizing The Theoretical Framework Of Acceptability To Design Research Instruments, Caroline R. Smetanka

Capstone Experience: Master of Public Health

Bronchiolitis is the leading cause of hospitalization among infants under six months, yet treatment remains largely supportive due to clinical guidelines that discourage pharmacologic intervention. Recent research suggests that bronchiolitis is not a uniform condition, and a subgroup of infants (those classified within “Profile A”) may benefit from targeted corticosteroid therapy. However, these treatments remain outside current clinical guidelines, and their successful adoption depends on stakeholder acceptability. This Capstone project developed and refined four data collection instruments- two questionnaires and two interview guides- designed to assess how healthcare providers and caregivers perceive the acceptability of corticosteroid treatment for Profile A …


Placement, Duration And Re-Entry Outcomes For Children In Foster Care With Disabilities, Jill Mcleigh, Alan Huang, Rong Huang, Gunjan Singh Nov 2025

Placement, Duration And Re-Entry Outcomes For Children In Foster Care With Disabilities, Jill Mcleigh, Alan Huang, Rong Huang, Gunjan Singh

Health Status, Outcomes, and Literacy and Healthcare Utilization

National, longitudinal studies exploring characteristics and outcomes of children in foster care (CFC) with disabilities are lacking. This study explores the prevalence, characteristics and relative risk of experiencing placement instability, staying in care for longer than 2 years, and returning to care within 3 years for CFC with a disability and by disability type.

For questions about this study or others, please email [email protected]

childrens.com/fostercare


Perspective: Restoring Rest-The Critical Role Of Sleep In Foster Care Well-Being, Jill Mcleigh, Anna Wani, Likhita Shaik Oct 2025

Perspective: Restoring Rest-The Critical Role Of Sleep In Foster Care Well-Being, Jill Mcleigh, Anna Wani, Likhita Shaik

Health Status, Outcomes, and Literacy and Healthcare Utilization

In 2023, approximately 400,000 children were in foster care in the United States, a population disproportionately affected by trauma, instability, and systemic inequities.1 These children face chronic disruptions in sleep—an essential physiological process that underpins physical development, learning, emotional regulation, and overall health.²⁻⁴ Adverse Childhood Experiences (ACEs), including abuse, neglect, and household dysfunction, are prevalent in this group and contribute to significant sleep disturbances through pathways of hyperarousal, stress dysregulation, and recurrent nightmares. 3,4 Understanding the interplay between foster care, social determinants of health (SDOH), and sleep health disparities highlights opportunities for targeted interventions to improve outcomes.

For questions about …


Educational Services And Language Congruency In Low-Income Children Who Are Deaf Of Hard-Of-Hearing, Courtney J. Austin, Dylan Chan, Jihyun Stephans Sep 2025

Educational Services And Language Congruency In Low-Income Children Who Are Deaf Of Hard-Of-Hearing, Courtney J. Austin, Dylan Chan, Jihyun Stephans

Research Colloquium

Background: Children who are deaf or hard-of-hearing (DHH) are required by United States law to have access to educational services through the Individuals with Disabilities in Education Act (IDEA). However, access to language-congruent providers, as well as supplemental services, varies considerably. Household income is associated with poorer hearing care access and outcomes in DHH children. We predict that access to supplemental, language-congruent DHH services is poorer in DHH children from lower-income homes.

Methods: This is a secondary, ad hoc exploratory study of DHH children aged 0-27 months enrolled in a randomized clinical trial (CT.gov: NCT04928209). Children were enrolled across all …


Parent Needs, Recommendations, And Systemic Challenges Affecting Pediatric Hypertension Detection, Abbas H. Zaidi, Erica D. Sood, Sarah De Ferranti, Samuel Gidding, Varsha Zadokar, Jonathan M. Miller, Anne E Kazak Sep 2025

Parent Needs, Recommendations, And Systemic Challenges Affecting Pediatric Hypertension Detection, Abbas H. Zaidi, Erica D. Sood, Sarah De Ferranti, Samuel Gidding, Varsha Zadokar, Jonathan M. Miller, Anne E Kazak

Department of Pediatrics Faculty Papers

Pediatric hypertension (HTN) affects 3%-5% of children in the United States, yet only 25% are diagnosed and 60% lack recommended follow-up care. Skepticism about elevated blood pressure (BP) readings and reluctance to use antihypertensive medications by parents and clinicians highlight the need for stakeholder-informed strategies to address these challenges. This study examined parents' perceived needs, their recommended strategies to improve HTN detection, and contextual health system challenges. Parents and clinicians from 10 pediatric primary care clinics participated in semi-structured qualitative interviews. Only parents of children with documented stage 2 BP readings and a HTN diagnosis, but with gaps in care …


Food Insecurity, Diet And Health Outcomes In Pediatric Inflammatory Bowel Disease: A Pilot Study, Nicole Zeky, Alysse Baudier, Colleen Leblanc, Elizabeth Mcdonough, Sarah A. Dumas, Dedrick Moulton Aug 2025

Food Insecurity, Diet And Health Outcomes In Pediatric Inflammatory Bowel Disease: A Pilot Study, Nicole Zeky, Alysse Baudier, Colleen Leblanc, Elizabeth Mcdonough, Sarah A. Dumas, Dedrick Moulton

School of Medicine Faculty Publications

Background/Objectives: Food insecurity (FI) is a well-defined factor in pediatric health outcomes and has been associated with lower diet quality. While poor diet quality has been linked to the rising prevalence of inflammatory bowel disease (IBD), little is known about the impact of FI on pediatric IBD. This pilot study explores the feasibility and potential impact of FI on dietary intake and clinical outcomes in children with newly diagnosed IBD. Methods: This pilot study included newly diagnosed IBD patients aged 5 to 18. FI screening was completed using the USDA 6-item and AAP 2-item screeners at diagnosis and 6 months. …


The Influence Of High Iq On Adhd Symptom Presentation And Outcomes In Children, David A. Lee Aug 2025

The Influence Of High Iq On Adhd Symptom Presentation And Outcomes In Children, David A. Lee

All-Inclusive List of Electronic Theses and Dissertations

Research suggests that a high intelligence quotient (IQ) may contribute to the underdiagnosis and misdiagnosis of Attention-Deficit/Hyperactivity Disorder (ADHD) in children. High IQ may allow children to compensate for executive functioning-related deficits inherent in ADHD and/or may influence behaviors such as high activity level or not following rules that mimic ADHD symptoms. To gain a better understanding of the relationship between IQ and ADHD, the present study aimed to investigate how high IQ impacts symptoms of inattention and hyperactivity as well as outcomes related to academic performance, emotional regulation, and peer relationships in children. The study utilized archival data from …


Resonant Disruptions: Understanding Canadian Nurses’ Practice With Youth Survivors Of Sexual Exploitation, Danielle E. Giebelhaus, Andrew Estefan Phd, Rpn Aug 2025

Resonant Disruptions: Understanding Canadian Nurses’ Practice With Youth Survivors Of Sexual Exploitation, Danielle E. Giebelhaus, Andrew Estefan Phd, Rpn

Dignity: A Journal of Analysis of Exploitation and Violence

The sexual exploitation of youth is a global concern. Youth survivors of sexual exploitation present to and require healthcare services, but most nurses do not feel effectively equipped to care for this population. There is currently little nursing literature to guide nurses in their practice with youth survivors. In this article, we report on a qualitative, hermeneutic study undertaken to explore nursing practice with youth survivors of sexual exploitation. Hermeneutics is concerned with understanding, and is a helpful way to conduct research when little is known about a topic. In this study, we asked the research question, “How might we …


Care Coordination In Pediatric Primary Care, Alyssa K. Durzo Jul 2025

Care Coordination In Pediatric Primary Care, Alyssa K. Durzo

Dissertations

No central documentation of care plans exists for children with special healthcare needs (CSHCN) in the electronic health record (EHR). Providers of a large pediatric primary care office in St. Louis Missouri were asked to identify CSHCN in the practice. Clinic nurses completed a comprehensive chart review of the patients identified and constructed care coordination documents using a pre-established smart-text phrase. Subsequently, these were documented centrally in the EHR under the Problem List.

Likert score data was obtained from providers on the acceptability, appropriateness, and feasibility of the intervention through the verified tools: Acceptability of Intervention Measure (AIM), Intervention Appropriateness …


Patient Information Needs During Ambulatory Medication Changes: A Qualitative Study, Elaine Giletta, Vanessa B. Hurley, Yushi Yang, Jessica L. Schwartz, Rabia Jalalzai, Nicole L. Mollenkopf, Raquel Mayne, Samantha I. Pitts Jul 2025

Patient Information Needs During Ambulatory Medication Changes: A Qualitative Study, Elaine Giletta, Vanessa B. Hurley, Yushi Yang, Jessica L. Schwartz, Rabia Jalalzai, Nicole L. Mollenkopf, Raquel Mayne, Samantha I. Pitts

Journal of Patient-Centered Research and Reviews

Purpose: We performed interviews with patients and caregivers to explore whole-person, whole-regimen information needs at times of routine outpatient medication changes. We categorized information needs in this relatively unstudied context and identified which needs were commonly recognized as insufficiently met.

Methods: We explored the content of the semi-structured interviews, which involved nine patients and two caregivers of pediatric patients, all of whom experienced a recent medication change in the outpatient setting of a large urban academic healthcare system. We used inductive thematic analysis to organize information needs into categories to identify key information gaps.

Results: We identified five categories of …


A Phase 2 Trial Of Short-Term Intravenous N-Acetylcysteine In Biliary Atresia After Kasai Portoenterostomy, Sanjiv Harpavat, Kristin A Borovsky, Michael E Scheurer, Laurel Cavallo, Franca E Erhiawarie, Sanjeev Vasudevan, Adam M Vogel, Dana Cerminara, Elizabeth M Tessier, Kalyani R Patel, Sridevi Devaraj, Benjamin L Shneider Jul 2025

A Phase 2 Trial Of Short-Term Intravenous N-Acetylcysteine In Biliary Atresia After Kasai Portoenterostomy, Sanjiv Harpavat, Kristin A Borovsky, Michael E Scheurer, Laurel Cavallo, Franca E Erhiawarie, Sanjeev Vasudevan, Adam M Vogel, Dana Cerminara, Elizabeth M Tessier, Kalyani R Patel, Sridevi Devaraj, Benjamin L Shneider

Center for Medical Ethics and Health Policy Staff Publications

Background: For infants with biliary atresia, the only treatment that can establish bile flow and delay need for liver transplant is the Kasai portoenterostomy (KP). Unfortunately, the KP has variable success. In this study, we hypothesized that intravenous N-acetylcysteine (IV NAC) treatment following KP would improve bile flow.

Methods: This was a phase 2 study following the two-stage "minimax" trial design. Participants received IV NAC (150 mg/kg/day) for 7 days after KP, and the primary endpoint was achieving total serum bile acids (TSBA) ≤10 μmol/L within 24 weeks of KP. Secondary endpoints were clinical markers and the occurrence of sentinel …


A Novel Cardiomyopathy Phenotype Linked To A Chd7 Missense Variant, In Young Park, Chih-Wei Hsu, Karim Bouazoune, Christina E Espindola, Madeline Hannah Mclaughlin Armond, Cristian Coarfa, Sandra L Grimm, James F Martin, Donna M Martin, Cheryl Lyn Walker Jun 2025

A Novel Cardiomyopathy Phenotype Linked To A Chd7 Missense Variant, In Young Park, Chih-Wei Hsu, Karim Bouazoune, Christina E Espindola, Madeline Hannah Mclaughlin Armond, Cristian Coarfa, Sandra L Grimm, James F Martin, Donna M Martin, Cheryl Lyn Walker

Center for Medical Ethics and Health Policy Staff Publications

Loss of function in the chromatin remodeler CHD7 causes CHARGE syndrome, characterized by variable penetrance and diverse abnormalities. However, establishing genotype-phenotype correlations has been challenging, as most CHD7 inactivating mutations are null alleles. Through CHD7 missense variant analysis at potential phosphorylation sites, we identified T730 (T720 in mice) as a critical residue associated with pathogenesis. Using a CHD7 T730 missense variant (Chd7T720A) and a frameshift null allele (Chd7fs) in a mouse model, we found that Chd7fs/fs mice were non-viable, while Chd7fs/+ mice exhibited haploinsufficiency-related circling behavior. Notably, Chd7fs/T720A mice died before postnatal …


Mechanisms Of Interventions Targeting Modifiable Factors For Dementia Risk Reduction, Anna Matton, Ruth Stephen, Makrina Daniilidou, Mariagnese Barbera, Vilma Alanko, Marcel Ballin, Jamie Ford, Katri Hemiö, Jenni Lehtisalo, Chinedu Momoh Jun 2025

Mechanisms Of Interventions Targeting Modifiable Factors For Dementia Risk Reduction, Anna Matton, Ruth Stephen, Makrina Daniilidou, Mariagnese Barbera, Vilma Alanko, Marcel Ballin, Jamie Ford, Katri Hemiö, Jenni Lehtisalo, Chinedu Momoh

Brain and Mind Institute

The global prevalence of dementia is increasing. With no widely available and accessible treatments to halt or reverse the progression of dementia, exploring preventative strategies is critical. Lifestyle-based interventions show promise in preventing or delaying dementia onset. However, understanding the complex and multifactorial mechanisms underlying dementia, and how interventions target these pathways, is essential for developing personalized and effective strategies. In this review, we examined the current evidence of the mediating pathways in dementia risk reduction. We focused on mechanisms investigated in single-domain interventions on physical exercise, cognitive training, diet, metabolic/cardiovascular or psycho-social risk factors in line with those combined …


Prenatal Substance Exposure And Positive Developmental Delay Screening Among Patients In Foster Care, Lauren Malthaner, Jill Mcleigh, Gregory Knell, Katelyn Jetelina, Folefac Atem, Sarah Messiah Jun 2025

Prenatal Substance Exposure And Positive Developmental Delay Screening Among Patients In Foster Care, Lauren Malthaner, Jill Mcleigh, Gregory Knell, Katelyn Jetelina, Folefac Atem, Sarah Messiah

Behavioral Health/Developmental Delay

Prenatal substance exposure (PSE) is a known risk factor for negative birth outcomes and long-term health outcomes like neurodevelopmental problems. Children in foster care have increased exposure to PSE and higher proportions of developmental delay compared with the general population. It is unclear whether differences still exist among developmental delay screening among children in foster care with and without PSE.

For questions about this study or others, please email [email protected]

childrens.com/fostercare


Surveying Management Strategies For Pediatric Autoimmune Hepatitis, Lillie Baca Jun 2025

Surveying Management Strategies For Pediatric Autoimmune Hepatitis, Lillie Baca

University Honors Theses

Pediatric autoimmune hepatitis (PAIH) is a long-term condition that requires ongoing treatment and regular monitoring. It is characterized by its elevation of liver enzymes, interface hepatitis, and the specific presence of circulating autoantibodies. There is a general lack of consensus on appropriate measures of diagnostic criteria, treatment medication, and beneficial practices for monitoring the disease. The existing literature contains several subtle discrepancies that challenge a practitioner's judgement for care management of children with autoimmune hepatitis. This study is a retrospective chart review aimed at understanding the current diagnostics, treatment, and long-term management strategies of PAIH at a single center. Also, …


Down Syndrome In Africa: Challenges, Opportunities, And Future Directions, Eimear Mcglinchey, Salina Tewolde, Amanda He, Juan Fortea, Lingani Mbakile-Mahlanza, Ayda Tefera, Emmanuel Epenge, Jason Hassenstab, Rachel Maina, Zul Merali Jun 2025

Down Syndrome In Africa: Challenges, Opportunities, And Future Directions, Eimear Mcglinchey, Salina Tewolde, Amanda He, Juan Fortea, Lingani Mbakile-Mahlanza, Ayda Tefera, Emmanuel Epenge, Jason Hassenstab, Rachel Maina, Zul Merali

Brain and Mind Institute

INTRODUCTION: As life expectancy improves for people with Down syndrome (DS) in Africa, the risk of developing DS-associated Alzheimer’s disease (DSAD) will rise. There is a pressing need to plan for this emerging challenge, particularly in the context of existing health and social disparities.

METHODS: This work emerged from a pan-African collaboration, including discussions at the Brain Ageing and Dementia in Low- and Middle-Income Countries conference held in Nairobi in 2024, where stakeholders identified regional priorities for DS and dementia care.

RESULTS: Limited epidemiological, cognitive, biomarker data, delayed diagnoses, and gaps in specialized services may impact access …


Misused And Misunderstood: Examining The Inappropriate Use Of Stimulant Medications, Connor Dains, Madilyn Paphanchith, Makayla Eversole, Chaehyeon Jin, Minhwan Yang, Joshua Honaker, Samantha Mccord, Kayla Petkus May 2025

Misused And Misunderstood: Examining The Inappropriate Use Of Stimulant Medications, Connor Dains, Madilyn Paphanchith, Makayla Eversole, Chaehyeon Jin, Minhwan Yang, Joshua Honaker, Samantha Mccord, Kayla Petkus

Pharmacy and Wellness Review

Attention Deficit Hyperactivity Disorder (ADHD) is a common neurodevelopmental disorder in children, characterized by inattention, hyperactivity, and impulsivity. The American Academy of Pediatrics (AAP) endorses stimulant medications as the first-line treatment option. When combined with behavioral therapy, this pharmacologic class can improve focus, executive functioning, and the overall quality of life. While stimulant prescriptions can have a positive effect when used as directed, there is concern for the potential of provider overprescription and patient misuse related to these medications. Consequently, the Food and Drug Administration (FDA) revised the boxed warning and prescribing information for stimulant medications. Healthcare providers must educate …


Food Insecurity In Adolescent Athletes, Andrew Donaldson, Shannon Margherio, Jay Roberson, Kevin Latz May 2025

Food Insecurity In Adolescent Athletes, Andrew Donaldson, Shannon Margherio, Jay Roberson, Kevin Latz

Research Days

Background: The prevalence of food insecurity among children in the United States is estimated at 21%. Food insecurity during childhood leads to worse school performance, more emotional and behavioral health concerns, and increased suicide attempts. Further, food insecurity has been noted to have multiple deleterious effects on the collegiate student athlete, including lower GPA, disordered eating, and substance use.

Hypothesis: Food insecurity is prevalent in the adolescent athlete population and exists across demographics.

Methods: Voluntary surveys were distributed to parents at all sports medicine clinics at our institution. Demographic data was collected including athlete age, race, school and school district, …


How Does Exposure To Early-Life Stressors Shape Eating Behaviors In Adulthood?, Surabhi Panda May 2025

How Does Exposure To Early-Life Stressors Shape Eating Behaviors In Adulthood?, Surabhi Panda

Rowan-Virtua Research Day

The objective of this literature review is to explore the relationship between early-life stress and the development of disordered or dysregulated eating in adulthood. A search was conducted across PubMed, CINAHL, Embase, and PsycINFO databases. Results from each study were compared and synthesized. Twelve studies were analyzed including case reports, systematic reviews, cohort studies, and cross-sectional studies. Research indicates that childhood emotional abuse, often more prevalent than other forms of maltreatment, is a significant risk factor for eating pathology, with studies investigating psychological mediators such as anger, anxiety, and dissociation in this relationship. Adverse Childhood Experiences (ACEs) and early life …