Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons^™

Medical Providers’ Perspective On Barriers Faced By Intellectual And Developmental Disabled (Idd) Patients From Medically Underserved Backgrounds, Mayra A. Flores

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•Complexities of obtaining healthcare access can be difficult for all patients across the board, so much so that it’s viewed as a maze. Studies have shown that these challenges are added on for medically underserved communities.2-3 Some of these challenges include insurance, language barriers, appointment availability, stigma, financial limitations and lack of transportation.2 •Identify the barriers that patients with intellectual and developmental disabilities (IDD) from medically underserved backgrounds face in healthcare access. •Intellectually and developmentally disabled patients from medically underserved communities face exacerbated barriers in healthcare access. •Participating medical providers from the Regional Integrated Special Needs Center (RISN) – Sewell …

Lactate-Induced Mitochondrial Magnesium Uptake And Its Metabolic Implications In The Mcardle’S Disease Model, Thiruvelselvan Ponnusamy, Jeremy Mehta, Haris Waseem, Marianne Assogba, Dianne Langford, Natarajaseenivasan Kalimuthusamy, Shanmughapriya Santhanam

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McArdle disease, caused by mutations in the PYGM gene, impairs glycogenolysis in skeletal muscle, reducing lactate production and leading to energy deficits, fatigue, and risk of rhabdomyolysis. Using a CRISPR/Cas9-generated PYGM knockout (KO) rat model, we investigated whether reduced lactate production disrupts mitochondrial magnesium (Mg²⁺) homeostasis. KO rats failed to elevate lactate during static muscle contraction and showed diminished mitochondrial Mg²⁺ uptake, disrupted ATP synthesis, and impaired mitochondrial respiration. In vitro, caffeine-stimulated KO myotubes lacked lactate production and mitochondrial Mg²⁺ uptake despite preserved Ca²⁺ oscillations. Raising glucose concentration restored lactate levels, rescued mitochondrial Mg²⁺ transport, and improved metabolic output in …

Comparative Efficacy Of Intravenous Ketamine And Lidocaine Infusions For Pain Management In Sickle Cell Vaso-Occlusive Crisis (Voc), Akhil Tumpudi Md

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Sickle cell disease (SCD) is a hereditary hemoglobin disorder characterized by vaso-occlusion and recurrent acute painful crises, which are the leading cause of hospitalization in affected individuals (1,2). Opioids remain the primary treatment for vaso-occlusive crisis (VOC) pain but are associated with adverse effects, tolerance, and risk of dependence, prompting investigation into opioid-sparing adjuncts (1,2). Intravenous ketamine, an NMDA receptor antagonist, has shown modest opioid reduction in randomized and observational studies, though pain score improvements are inconsistent (3–6). Intravenous lidocaine, a sodium channel blocker, has also demonstrated potential opioid-sparing effects in retrospective cohorts with limited evidence of analgesic superiority (7–9). …

Acute Ischemic Stroke In Hemoglobin Sc Sickle Disease Requiring Emergent Exchange Transfusion And Neurocritical Transfer, Julian Coz, Trent Malcolm, Andrew Iskandar, James Espinosa, Alan Lucerna

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Acute ischemic stroke is a well-recognized complication of sickle cell disease (SCD), with historical estimates suggesting that up to 11% of patients experience an overt stroke by early adulthood. Stroke represents a hematologic and neurologic emergency requiring rapid reduction of the circulating hemoglobin S (HbS) fraction to prevent infarct progression. The American Society of Hematology recommends emergent exchange transfusion within two hours of presentation for patients with acute neurologic deficits [1,3].

Management is particularly nuanced in hemoglobin SC (HbSC) disease. Compared with hemoglobin SS disease, patients with HbSC typically have higher baseline hemoglobin concentrations, increasing blood viscosity and the risk …

Ketamine With Opioids Vs. Ketamine With Non-Opioid Analgesics For Vaso-Occlusive Crisis In Sickle Cell Disease: A Prisma-Style Scoping Review, Akhil Tumpudi

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Vaso-occlusive crises (VOCs) are the hallmark of Sickle Cell Disease (SCD) and a leading cause of hospitalization. Pain management relies heavily on opioids, but repeated exposure carries risks including tolerance, hyperalgesia, and adverse effects. Ketamine, an NMDA receptor antagonist, has emerged as an adjunctive agent with potential opioid-sparing effects (1–3,7). Systematic reviews suggest ketamine may reduce pain scores and possibly opioid requirements, though pooled results remain inconsistent (5,6,8). While ketamine + opioid regimens have been studied, the feasibility, efficacy, and safety of ketamine combined with non-opioid analgesics for VOC remain largely unknown. Understanding the comparative effectiveness of these approaches is …

Case Report: Dandy-Walker Malformation In An Adolescent Presenting With Aggressive Behavior, Kristen Arulsamy, Wayne Tamaska, James Espinosa, Alan Lucerna

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We report a case of a 15-year-old male who presented to the Emergency Department(ED) for agitation and was subsequently diagnosed with Dandy-Walker malformation (DWM). DWM is a rare congenital abnormality of the posterior fossa characterized by hypoplasia of the cerebellar vermis, cystic dilation of the fourth ventricle, and enlargement of the posterior fossa. It is typically diagnosed during infancy due to hydrocephalus, developmental delay, or neurologic abnormalities. Late presentations in adolescence are uncommon and may occur incidentally during evaluation for unrelated conditions.

Arrhythmic Syncope And Brugada Syndrome: Critical Identification Of High-Risk Patterns At The Ed Frontline, Kristine Rubi, Brittany Fera, Kelsey Murray, James Espinosa, Alan Lucerna

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Brugada Syndrome (BrS) is a premier cause of sudden cardiac death (SCD) in structurally normal hearts, particularly in Southeast Asia (SEA) where it is historically recognized as Sudden Unexplained Nocturnal Death Syndrome (SUNDS). We report the case of a 55-year-old male of Vietnamese descent who presented to the emergency department (ED) after a sudden, non-prodromal syncopal episode at rest. The event was significant for urinary incontinence and diaphoresis, classic red flags for arrhythmic syncope. Bedside electrocardiogram (EKG) demonstrated the pathognomonic Type 1 coved ST-segment elevation in leads V1 and V2. This symptomatic presentation following a six-year "follow-up gap" since a …

Gut Microbiota Dysbiosis In Down Syndrome: Implications For Gastrointestinal And Neurological Health, Ashlyn Mcclelland, Jennifer Lecomte, Wendy Aita, Andrea Iannuzzelli

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Down syndrome (DS) is the most common autosomal aneuploidy and has strong associations with increased gastrointestinal, neurological, and immune disorders. Emerging evidence suggests that gut microbiota dysbiosis may play a prominent role in disorders of gut-brain interaction, including constipation and irritable bowel syndrome affecting over half of individuals with DS. This review examines how gut microbiota alterations can contribute to chronic systemic inflammation and neurological manifestations in DS. Included articles were published between 2014 and 2025 and evaluated microbiota composition, inflammatory markers, and gastrointestinal or neurological outcomes in human or animal models of DS.

Across seven studies, characteristic microbiome shifts …

Designing For Difference: A Systems Approach To Sensory-Adaptive Care In The Emergency Department, James Espinosa, Alan Lucerna, Henry Schuitema

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Children with genetic syndromes and other neurodevelopmental conditions frequently present to the Emergency Department (ED) with sensory vulnerabilities that complicate evaluation and treatment in high-stimulus environments. While experienced clinicians often adapt instinctively to meet these needs, such adaptations may be inconsistently applied and may also be highly individual provider dependent. We present a case involving a child with a genetic syndrome affecting auditory and visual systems to illustrate how small environmental, relational, temporal, and cognitive adjustments can prevent escalation and enable routine care delivery without specialized resources.

We propose reframing sensory-adaptive care not as an exceptional accommodation but as a …

Ultrasonographic Appearance Of Suspected Zinner Syndrome, Wen Hao Luo, Jared Garfinkle, Jack Hennen, Robert Martin, Kathleen Deiling

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Zinner syndrome (ZS) is a rare congenital condition characterized by the triad of unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ipsilateral ejaculatory duct obstruction. ZS is suspected to be caused by the malformation of the mesonephric duct during embryogenesis. The incomplete migration of the ureteric bud results in ipsilateral renal agenesis and ejaculatory duct obstruction. The remaining gonad develops with inadequate seminal fluid drainage, leading to the formation of seminal vesicle cysts. ZS is often asymptomatic, leading to challenges in diagnosis, particularly in adolescents. Symptoms can include pain, dysuria, pollakisuria, perineal pain, epididymitis, and pain after ejaculation. Imaging plays …

Volatile Anesthetic Exposure During Organogenesis (Weeks 6-9): Implications For Fetal Brain Development, Cheryce Daniel, Kylon Coombs

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Organogenesis, particularly during gestational weeks 6 through 9, represent a critical window for fetal brain development. During this period, neurogenesis, neural tube closure and synaptic organization are actively occurring. Disruption of these processes, especially from exogenous agents, can result in lasting developmental consequences.

The U.S Food and Drug Administration has issued warnings regarding the use of anesthetic agents such as isoflurane, sevoflurane, and desflurane. Noting the potential risk of neurotoxic effects on the developing brain. This warning is particularly highlighted when administered drugs are present for long periods of time or during repeated procedures. The goal of this literature review …

Adherence To Follow-Up Among High-Risk Nicu Patients, Iryna Muryn, Susan Mbullah Ndimah, Lisa Renee Eiland, Tara Lozy

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Background:

Preterm infants, especially those ≤32 weeks' gestational age (GA) are at increased risk of vision and hearing loss. Risks of both vision and hearing loss can be ameliorated and in some cases prevented by conscientious screening, follow up and treatment. Universally, infants ≤32 weeks are cared for in neonatal intensive care units and there is considerable confidence that screenings and treatment occur according to established guidelines. At hospital discharge, follow up responsibility shifts to infant caretakers likely resulting in reduced compliance.

Objective:

We aimed to determine if preterm infants at risk for vision and hearing loss, attended follow up …

Chemical Exposures In Utero: Phthalates And Congenital Heart Defects, Demi Poulathas

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Background: Congenital heart defects (CHDs) are the most common type of birth defect. Approximately 80% of CHDs have unknown causes, and phthalates may play a contributing role. Phthalates are ubiquitous environmental chemicals used as plasticizers in a wide range of products, including cosmetics and electronic devices. After entering the body, phthalates bind to the progesterone receptor, which is necessary for fetal development. While multiple studies have explored environmental factors in CHD development, few have examined the effects of phthalates on CHDs in humans. Methods: A literature review was conducted to investigate the relationship between parental occupational phthalate exposure and the …

Assessing The Safety And Effectiveness Of Endovascular Treatment Vs. Surgical Repair Of Aortic Aneurysms In Patients With Marfan Syndrome: A Literature Review, Noor Baig, Zainab Mubasher, Nassos Tziviskos, Joseph Pernini, Marcus Fariello, Ryan Hickey

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Background: This review compares the safety and effectiveness of thoracic endovascular aortic repair (TEVAR) versus open surgical repair in patients with Marfan Syndrome (MFS) and thoracic aortic aneurysms. We assessed differences in mortality, length of hospital stay, renal impairment, and stroke incidence between the two techniques. Currently, open surgical repair is the gold standard treatment.

Hypothesis: As the gold standard treatment, we expect open surgical repair to have more favorable outcomes than TEVAR.

Methods: A systematic literature search was performed using studies from 2000-2024 across PubMed, Scopus, Embase, Cochrane, and Web of Science. Studies were included if they involved adult …

Effects Of Exercise On The Cardiovascular Health Of Adolescents And Young Adults With Down Syndrome, Samarth Gupta

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Introduction: It is known that the incidence of Down Syndrome has increased over time and that this condition is associated with congenital heart defects, lower cardiorespiratory capacity, and increased rates of obesity and type 2 diabetes. It has been shown that individuals who have congenital heart defects but not Down Syndrome have increased cardiorespiratory function after engaging in exercise. Unfortunately, the role of exercise in improving cardiovascular health outcomes among individuals with DS is not yet fully understood.

Results: Exercise has been found to improve several health outcomes among individuals with Down Syndrome. For example, moderate to vigorous treadmill exercises …

Brief Review: Regional Anesthesia For Vaso-Occlusive Pain Crises, Oluwatomi Alade

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Vaso-occlusive pain crisis occurs with obstruction of blood vessels from sickled red blood cells. This results in ischemic injury causing in pain. Acute vasoocclusive pain crisis is one of the most common reasons for patients with sickle cell disease to present to the hospital for medical attention. Acute treatment involves IV opioid therapy, non-opioid therapy, and IV hydration. There is a known lack of trust between a patient in acute pain and a provider in the emergency department (ED) and hospital secondary to stereotypes regarding pain seeking behavior. Here we discuss a case of vasoocclusive pain crisis refractory to opioid …

Case Report: A Case Of Ttp In The Ed, Brian F. Lim, Andrew Caravello, James A. Espinosa, Alan Lucerna

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We report a case of a 54-year-old female who presented with mild shortness of breath, lower chest discomfort, fatigue, and weakness ongoing for several days and was diagnosed with thrombotic thrombocytopenic purpura (TTP). TTP is characterized by microangiopathic hemolytic anemia and thrombocytopenia due to either an inherited or immune-mediated reduction in von Willebrand Factor (VWF) cleaving protease ADAMTS13.

Patients presenting with non-specific symptoms is becoming increasingly common and initial bias could be to attribute symptoms to viral syndrome or upper respiratory tract infection. However, the differential for non-specific complaints is extensive and thorough review of labs and re-evaluations of patients …

Gut Microbiome And Nutrition Interplay In Regulating And Improving Autism Spectrum Disorder Related Social Symptoms, Irenonsen Juliet Eigbe, Christian Moya Gamboa, Jana Gjini, Jaydeep Mukherjee, Susrut Dube

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The composition of the gut microbiome has been shown to play a role in the onset of neurological disorders, including Autism Spectrum Disorder(ASD). A small variety of recent research articles identify a possible link between onset and severity of ASD related behaviors and the composition of the gut microbiome. The purpose of this review is to identify gaps in the current understanding of the role that nutrition plays in changing the gut microbiome and subsequently altering the onset and severity of behavioral phenotypes in children with ASD. Inclusion criteria comprises peer-reviewed publications relating to children with autism. Exclusion criteria consists …

Factors Affecting Caregiver Burden In Informal Caregivers Of Patients With Autism Spectrum Disorder, Brian Joseph Mathew, Maduka Gunasinghe, Usmaan Al-Shehab, Samrat Gollapudi, Prince Patel, Maithri Goud

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Individuals with Autism Spectrum Disorder (ASD) often require lifelong care to meet their daily needs, which is typically provided by informal sources like family members as well as formal caregivers from home health agencies. The persistent stress of raising a child with ASD can potentially lead to parental burnout, highlighting the importance of understanding the struggles faced by these caregivers. Clinicians must prioritize the well-being of both the individuals with ASD and their dedicated caregivers by gaining a comprehensive understanding of the challenges they encounter.

Our research aims to investigate and comprehend the specific challenges faced by caregivers of individuals …

Ultrasound Versus Radiography For Evaluating Surgical Necrotizing Enterocolitis, Sayed H. Aftab, Santiago Martinez-Correa, Minh-Huy Huynh, Wondwossen T. Lerebo, Jorge Delgado, Rebecca Denis, Misun Hwang

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Purpose:

Necrotizing enterocolitis (NEC) is an abdominal inflammatory condition that is common in premature neonates. Although abdominal radiograph (AR) remains the imaging standard for NEC, it may miss up to 50% of early signs of NEC and has been described to have a sensitivity as low as 15.4% for detecting pneumoperitoneum. Abdominal ultrasound (US) is portable, non-invasive, and allows real-time bowel integrity, movement, and perfusion assessment. We aim to evaluate the concordance between US and AR in detecting NEC features and the diagnostic performance of both modalities in detecting pneumoperitoneum.

Methods and materials:

We conducted an IRB-approved retrospective, cross-sectional, single-center …

The Impact Of Vitamin Supplementation (D, B12, B9) On Behaviors Associated With Autism Spectrum Disorder, Rohan Mehra

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Background: One in 36 children in the United States are diagnosed with Autism Spectrum Disorder (ASD). Although heritability of the condition ranges from 40 to 80%, other factors such as vitamin levels, may have a significant impact on the risk of development. These vitamins include D, B12, and B9.

Purpose: To assess the impact vitamin supplementation has on behaviors associated with ASD, and to determine which specific aspects of ASD may be improved with vitamin supplementation.

Methods: A literature review was performed. The search was utilized PubMed, JSTOR and Web of Science. Keyword strings included: “Vitamin D B12 B9 folate …

Vitamin Level Differences Across The Asd Spectrum, Rohan Mehra, Wendy F. Aita, Andrea Iannuzzelli

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Background: In the United States, 2.7% of children are diagnosed with Autism Spectrum Disorder (ASD). Environmental factors such as vitamin levels, including D, B9, and B12, may have a significant impact on the risk of development. Children conceived in winter months, with low sunlight and Vitamin D levels, have a higher risk of developing ASD. Vitamin B12 deficiency is generally linked with an increased risk of neurodevelopmental disorders. Additionally, vitamin B9 deficiency of a mother during gestation is linked to a higher risk of her child developing ASD.

Purpose: To assess potential differences in vitamin levels between patients of differing …

Complications Following Hemivertebrectomy For Congenital Scoliosis, Sanjana Davuluri, Taemin Oh, Kyrillos Akhnoukh, Zachary Weingrad, Michael Lesgart, Terrence Ishmael, Joshua Pahys, Amer Samdani, Steven Hwang

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Introduction:

Hemivertebrae are rare congenital anomalies that can cause severe scoliosis requiring surgical correction. We aimed to determine whether severity of deformities is associated with more long-term surgical complications following surgical correction.

Methods:

We performed a retrospective, single-institution review on patients who underwent hemivertebrectomy and spinal fusion for congenital scoliosis between 2008-2020. We extracted pertinent data on demographics, radiographic parameters, operative details, and complication rates. Subgroup analyses were also done by complication severity, deformity complexity, and construct length.

Results:

In our series, 30 patients underwent hemivertebrectomy and fusion. Mean age was 9±4.2 years and there was 2:1 male preponderance, with …

Investigating The Link Between Preeclampsia/Eclampsia In Mothers And Cardiovascular Risk Among Their Neurodivergent Children, Jasmine Emanuel, Andrea Iannuzzelli, Venkateswar Venkataraman

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Preeclampsia/Eclampsia are common gestational conditions among pregnant women. These individuals have hypertension after 20 weeks of gestation, proteinuria/end-stage organ disease, and may have seizures. These conditions can put the mother and fetus at risk.^1,2 A review of literature investigates whether an association exists between congenital heart defects (CHD), and maternal preeclampsia/eclampsia in the neurotypical and neurodivergent population. The Rowan-Virtua Regional Integrated Special Needs (RISN) Center patient population was used to investigate whether maternal preeclampsia/eclampsia is indicative of higher congenital heart disease (CHD) in their neurodivergent children to achieve better quality of care. As a first step towards exploring the …

A Literature Review Of Current Treatments For The Hypermobility Subtype Of Ehlers-Danlos Syndrome, John Gericke, Mary Zsolway, Chelsea Reyes, Pooja Patel, Saad Ahmed, Julia Hwang, Venkateswar Venkataraman

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Purpose: The purpose of this study is to compare pharmacologic intervention, neurocognitive therapy, physical therapy, and orthotics in treating the hypermobility subtype of Ehlers-Danlos Syndrome (hEDS) and determine which has the most positive effect on symptoms.

Introduction: Ehlers-Danlos Syndrome is an inheritable connective tissue disorder which results from a genetic mutation that alters the body’s ability to produce collagen. The most common subtype of Ehlers-Danlos Syndrome is hEDS, which leads to hypermobility and hyperextensibility and can cause frequent joint dislocations.

Methods: A review of literature was performed to compare each treatment based on reported results. The types of studies reviewed …

The Effects Of Prenatal Buprenorphine Exposure On The Neurobehavioral Development Of The Child, Zaineb Zubair, Maryam Zubair, Juan Alonso, Abdullah Zubair

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Background: Current guidelines for pregnant women with substance use disorder advise prenatal maintenance of opioid agonist therapy with either buprenorphine or methadone. Despite this rise in prenatal opioid agonist therapy, little is known about the effect of prenatal buprenorphine on the neurobehavioral development of the child. This poses the question: does buprenorphine have a long-lasting effect on the central and peripheral nervous system development and behavior of children who were exposed prenatally?

Methods: A comprehensive literature review identified articles relating to prenatal buprenorphine and neurobehavioral outcomes. Article searches were conducted on PubMed and Dynamed. Publications from 2002 through November 2021 …

Inflammatory Marker Levels Among Patients Diagnosed With Autism Spectrum Disorder And Congenital Heart Defects, Patrick Pearce, Venkateswar Venkataraman, Andrea Iannuzzelli, Jennifer Lecomte

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Autism Spectrum Disorder (ASD) and congenital heart defects (CHD) are conditions that both confer an immense increase in standard of care, and utilization of medical resources addressing comorbidities. One shared symptom that has been consistently cited is inflammation. This review sought to explore the levels of Tumor Necrosis Factor-�� (TNF-��) and Interleukin-6 (IL-6) between patients diagnosed as having either ASD or CHD. By compiling published data containing the mean values of these two inflammatory markers within these populations, it was shown that while both have significantly elevated levels compared to a phenotypically normal demographic, there is no significant difference between …

Is There An Association Between Preeclampsia/Eclampsia And Congenital Heart Disease Among The Neurodivergent Population?, Jasmine Emanuel, Venkateswar Venkataraman, Jennifer Lecomte, Andrea Iannuzzelli

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Preeclampsia and eclampsia are very common gestational conditions among pregnant individuals worldwide. These individuals are diagnosed with high blood pressure (after 20 weeks of gestation), proteinuria/end-stage organ disease, and may include seizures. These conditions can put the mother and fetus at risk. A review of literature has shown that there is an association between cardiovascular defects among the neurodivergent population, where these individuals have a higher risk of developing atrial septal defects and ventricular septal defects. The Rowan-Virtua Integrated Special Needs (RISN) Center patient population will be used to investigate whether preeclampsia/eclampsia in mothers is indicative of higher congenital heart …

Case Report: Uterine Torsion – A Rare Cause Of Right Lower Quadrant Pain, David Ho, James Jung Lee, James Espinosa

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Uterine torsions are very rare. In an article by Matsumoto et al published in 2021, only 25 cases have been documented on PubMed in non-gravid females in the past 20 years. Uterine torsion is defined as rotation of the uterus greater than 45 degrees in the long axis. Rotation can occur anywhere between 45 degrees to 180 degrees. The torsion can be due to a congenital anomaly or an obstetrics emergency such as with an ovarian torsion. Uterine torsions presenting as an obstetrics emergency carries the potential for irreversible ischemic damage to the uterus, and just as in ovarian torsion, …

Association Of Prematurity And Urogenital Comorbidities With Postoperative Outcomes Of Ureteroneocystostomy For Vesicoureteral Reflux, Raeann Dalton, Young Son, Edward Wu, Leah Anderton, Matthew Eximond, Lance Earnshaw, Katelyn Klimowich, Gregory Dean

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Background: It is estimated that 20-30% of congenital anomalies involve the kidney and ureter, and these rates are even higher in infants with low birth weights. Vesicoureteral reflux (VUR) occurs when there is a backflow of urine from the bladder to the kidney. Depending on severity, this condition may require surgical correction with ureteroneocystostomy (UNC). The impact of premature birth and presence of urogenital comorbidities on outcomes of UNC is not known. The objective of this study is to determine the relationship between premature birth and urogenital comorbidities with operative outcomes of UNC for VUR.

Methods: The 2020 American College …