Long-term Medical Outcomes Research Articles

Rationale and design of CHD PULSE: Congenital Heart Disease Project to Understand Lifelong Survivor Experience

BackgroundWith improved survival of adults with congenital heart disease (CHD) comes a need to understand the lifelong outcomes of this population. The aim of this paper is to describe the rationale and design of Congenital Heart Disease Project to Understand Lifelong Survivor Experience (CHD PULSE), a study to determine long-term medical, neurocognitive, and psychosocial outcomes among adults with a history of intervention for CHD and to identify factors associated with those outcomes. MethodsCHD PULSE is a cross-sectional survey conducted from September 2021 to April 2023 among adults aged 18 and older with a history of at least one intervention for CHD at one of 11 participating U.S. centers in the Pediatric Cardiac Care Consortium. Participants with CHD were asked to complete a 99-question survey on a variety of topics including: demographics, surgeries, health insurance, health care, heart doctors, general health, height and weight, education and work history, reproductive health (for women only), and COVID-19. To construct a control group for the study, siblings of survey respondents were invited to complete a similar survey. Descriptive statistics for demographics, disease severity, center, and method of survey completion were computed for participants and controls. Comparisons were made between participants and non-participants to assess for response bias and between CHD participants and sibling controls to assess for baseline differences. ResultsAmong the 14,322 eligible participants, there were 3133 respondents (21.9%) from 48 U.S. states with surveys returned for inclusion in the study. Sibling contact information was provided by 691 respondents, with surveys returned by 326 siblings (47.2%). The median age of participants was 32.8 years at time of survey completion, with an interquartile range of 27.2 years to 39.7 years and an overall range of 20.1 to 82.9 years. Participants were predominantly female (55.1%) and of non-Hispanic White race/ethnicity (87.1%). There were no differences between participants and non-participants regarding severity of CHD. Compared to non-participants, participants were more likely to be female, of older age, and be of non-Hispanic White race/ethnicity. Enrolled siblings were more likely to be female and slightly younger than participants. ConclusionsWith surveys from 3133 participants from across the U.S., CHD PULSE is poised to provide keen insights into the lifelong journey of those living with CHD, extending beyond mere survival. These insights will offer opportunities for informing strategies to enhance and improve future outcomes for this population of patients.

Patients Experience Significant Long-Term Social and Health Challenges After Major Lower Extremity Amputation

Major lower extremity amputation is a significant life-changing event that can have long-term implications. The goal of this study was to assess long-term medical outcomes and social determinants of health (SDH) challenges in this population. A retrospective review of major lower extremity (previously mentioned ankle) amputations (2018-2022) was performed at a safety-net tertiary care center. Patients who participated in an SDH survey between 6 months and 1.5years postoperatively were included for survey analysis. Patient demographics, comorbidities, and perioperative and long-term outcomes were analyzed. There were 100 patients included. Mean age was 61.5years and 23% were of female gender. The majority (57%) were Black race, 20% White race, and 21% Hispanic ethnicity. Comorbidities included diabetes (78%), chronic kidney disease (51%), coronary artery disease (31%), congestive heart failure (23%), previous cerebrovascular events (19%), and 37% used opioids preadmission. At baseline, the majority (62%) lived at home. Guillotine amputation was performed in 24%, with definitive amputation in the following and previously mentioned knee in 67% and 33%, respectively. Median length of stay was 7days. Readmission at 30 days, 90days, and 1 year was 13%, 30%, and 43% respectively. The average follow up was 839days. At long-term follow up, 55% lived at home, 25% used opioids, and only 25% were independently ambulatory. In the SDH survey at follow up, 32% identified at least one SDH challenge, with younger patients more often affected (58 vs. 63years, P=0.031). SDH challenges consisted of food insecurity (17%), housing insecurity (13%), transportation challenges (13%), seeking employment (8%), difficulty paying for utilities (5%) and medications (4%), seeking further education (5%), and difficulty caring for family/friends (4%). On multivariable analysis, having at least one SDH challenge was independently associated with 1-year readmission (odds ratio 6.7, 95% confidence interval 1.3-35.8, P<0.001). Older age was associated with lower long-term independent ambulation (odds ratio 0.92, 95% confidence interval 0.85-0.99, P=0.025). After major lower extremity amputation, patients have significant medical and social challenges with fewer living at home, the majority were not independently ambulatory, and one-third having at least one SDH challenge. Improvements in long-term support including medical, social, and rehabilitation services are required for this vulnerable population.

Neurocognitive Profile in Pediatric Kidney Transplant Candidates: Effects of Medical and Sociodemographic Factors.

We evaluated the effects of kidney failure etiology, dialysis, and sociodemographic factors on the subdomains of intellectual functioning in pediatric kidney transplant candidates. This retrospective study included 78 pediatric kidney transplant candidates who completed a Wechsler Intelligence Scale assessment during pre-transplant neuropsychological evaluation between 1/1/2010 and 10/31/2022. Linear regression models were employed to examine the effects of kidney failure etiology, dialysis status, neighborhood area deprivation, and race on subdomains of intellectual functioning. The mean scores of various intellectual functioning domains in pediatric kidney transplant candidates were significantly lower than in the general population (ps <0.001). After adjusting for covariates, patients with congenital anomalies of the kidney and urinary tract had significantly lower processing speed (M=85; 95% CI: 79-91) compared to patients with nephrotic syndrome (M=99; 95% CI: 90-107) and other etiologies (M=84; 95% CI: 78-90) (p=0.003). Patients living in high-level deprivation neighborhoods showed lower working memory performance (M=84, 95% CI: 77-91) than patients living in median-level (M=91, 95% CI: 87-95) and low-level (M=98, 95% CI: 92-104) neighborhood area deprivation (p=0.03). Patients from marginalized racial groups demonstrated lower verbal skills (M=80, 95% CI: 74-87) than White patients (M=92, 95% CI: 88-97) (p=0.02). Additionally, patients receiving dialysis showed higher reasoning skills (M=98, 95% CI: 90-104) than patients without dialysis (M= 90, 95% CI: 86-95) (p=0.04). Neurocognitive development in pediatric kidney transplant candidates is associated with medical and sociodemographic factors. Strategies to monitor, treat, and accommodate neurocognitive concerns need to be considered to optimize long-term medical and social outcomes.

Improving the care of children with GENetic Rare disease: Observational Cohort study (GenROC)—a study protocol

IntroductionAround 2000 children are born in the UK per year with a neurodevelopmental genetic syndrome with significantly increased morbidity and mortality. Often little is known about expected growth and phenotypes...

Dual-Teacher Feature Distillation: A Transfer Learning Method for Insomniac PSG Staging.

Insomnia is the most common sleep disorder linked with adverse long-term medical and psychiatric outcomes. Automatic sleep staging plays a crucial role in aiding doctors to diagnose insomnia disorder. Only a few studies have been conducted to develop automatic sleep staging methods for insomniacs, and most of them have utilized transfer learning methods, which involve pre-training models on healthy individuals and then fine-tuning them on insomniacs. Unfortunately, significant differences in feature distribution between the two subject groups impede the transfer performance, highlighting the need to effectively integrate the features of healthy subjects and insomniacs. In this paper, we propose a dual-teacher cross-domain knowledge transfer method based on the feature-based knowledge distillation to improve the performance of sleep staging for insomniacs. Specifically, the insomnia teacher directly learns from insomniacs and feeds the corresponding domain-specific features into the student network, while the health domain teacher guide the student network to learn domain-generic features. During the training process, we adopt the OFD (Overhaul of Feature Distillation) method to build the health domain teacher. We conducted the experiments to validate the proposed method, using the Sleep-EDF database as the source domain and the CAP-Database as the target domain. The results demonstrate that our method surpasses advanced techniques, achieving an average sleep staging accuracy of 80.56% on the CAP-Database. Furthermore, our method exhibits promising performance on the private dataset.

Long-term medical and quality of life outcomes among voluntary liver donors

BackgroundLong-term medical and quality of life outcomes in voluntary liver donors remain under investigated. The objective of the current study was to report long-term medical outcomes and re-evaluate quality of life in living liver donors. MethodsThis was a single center retrospective cohort study of donors who underwent donor hepatectomy between 2012 and 2018. We investigated long-term outcomes in seven domains. These include medical problems, surgical procedures, work related issues, pregnancy outcomes, psychiatric interventions, willingness to donate again, and long-term mortality. Quality of life was evaluated using short-form 36. ResultsThe median follow-up time was 61.4(53.3-83.7) months. Among 698 donors, 80 (11.5%) experienced medical problems, four (0.6%) had work related issues, and 20(2.9%) needed psychiatric assistance. Surgery was performed in 49(7%) donors, and females were more likely to have undergone incisional hernia repair (5.8% vs. 1.9%, P=0.006). There were 79 post-donation pregnancies including 41(51.9%) normal vaginal deliveries, 35(44.3%) cesarean sections, and three (3.8%) miscarriages. Willingness to donate again was reported by 658(94.3%) donors. Donors whose recipients were alive were more likely to donate again (95.5% vs. 90.5%, P=0.01). There were three (0.4%) deaths in the long-term. The mean physical composite score at initial and follow-up evaluation was 86.7±13.9 and 76.5± 20.9(P=0.001), and the mean mental composite score at initial and follow-up evaluation was 92.1± 13.5 and 80.7 ±16 (P=0.001). ConclusionThe overall long-term outlook in living liver donors looks promising. Quality of life parameters might deteriorate over time and frequent re-evaluation might be considered.

Shapely additive values can effectively visualize pertinent covariates in machine learning when predicting hypertension.

Machine learning methods are widely used within the medical field to enhance prediction. However, little is known about the reliability and efficacy of these models to predict long-term medical outcomes such as blood pressure using lifestyle factors, such as diet. The authors assessed whether machine-learning techniques could accurately predict hypertension risk using nutritional information. A cross-sectional study using data from the National Health and Nutrition Examination Survey (NHANES) between January 2017 and March 2020. XGBoost was used as the machine-learning model of choice in this study due to its increased performance relative to other common methods within medical studies. Model prediction metrics (e.g., AUROC, Balanced Accuracy) were used to measure overall model efficacy, covariate Gain statistics (percentage each covariate contributes to the overall prediction) and SHapely Additive exPlanations (SHAP, method to visualize each covariate) were used to provide explanations to machine-learning output and increase the transparency of this otherwise cryptic method. Of a total of 9650 eligible patients, the mean age was 41.02 (SD=22.16), 4792 (50%) males, 4858 (50%) female, 3407 (35%) White patients, 2567 (27%) Black patients, 2108 (22%) Hispanic patients, and 981 (10%) Asian patients. From evaluation of model gain statistics, age was found to be the single strongest predictor of hypertension, with a gain of 53.1%. Additionally, demographic factors such as poverty and Black race were also strong predictors of hypertension, with gain of 4.33% and 4.18%, respectively. Nutritional Covariates contributed 37% to the overall prediction: Sodium, Caffeine, Potassium, and Alcohol intake being significantly represented within the model. Machine Learning can be used to predict hypertension.

The impact of health literacy on adolescent and young adult pediatric liver transplant recipients.

Pediatric liver transplant recipients have increased rates of morbidity and mortality following transfer to adult health care providers. The role of health literacy (HL) has not been adequately assessed in this population and may be an unrecognized barrier to successful health care transition. We sought to determine the impact of HL for patients and their caregivers on measures of transition readiness (TR), adherence, health-related quality of life, and medical outcomes following pediatric liver transplant. This is a single-center study of pediatric liver transplant recipients transplanted between the ages of 12 and 26 from October 2016 through August 2020. Patients and caregivers completed 4 surveys to evaluate TR, health-related quality of life, and HL. Clinical outcomes were stratified based on the presence or absence of adequate HL. Limited HL was identified in 57.0% of recipients and 47.4% of caregivers. Patients with limited HL were more likely to be younger in age ( p = 0.004), Hispanic ( p = 0.003), and less likely to have obtained a high school diploma or equivalent ( p < 0.001). Patients with adequate HL demonstrated significantly higher levels of TR ( p < 0.001). Patient HL did not impact health-related quality of life, adherence, or medical outcomes. Caregiver HL did not impact patient outcomes or adherence, though higher levels of caregiver education were associated with adequate patient HL ( p = 0.049). This study demonstrates that limited HL is associated with decreased measures of TR. Inadequate HL may be an unrecognized barrier to a successful health care transition. Regular assessment of HL may provide an opportunity for intervention prior to transfer of care. Future studies should investigate the impact of these interventions on long-term medical outcomes.

Oral 41 - Long-term medical and functional outcomes in adults with a childhood history of vesico-ureteric reflux

Oral 41 - Long-term medical and functional outcomes in adults with a childhood history of vesico-ureteric reflux

Key Competencies of Pediatric Disaster Medicine as Determined by a Systematic Review of Gray Literature

Introduction:Children are often disproportionately impacted by disasters, and yet pediatric specific considerations are not properly emphasized during disaster planning and training, resulting in the desperate needs of children falling through the cracks during disasters. Children differ from adults developmentally, physiologically, and psychologically, and are more vulnerable to negative long-term medical, social, and behavioral outcomes. Additionally, children lack autonomy and rely on adults to gain access to the healthcare system and other resources. Despite the distinctions between adults and children, time and curricula for pediatric disaster training is insufficient, and workforce capacity and competency to plan for and respond to the disaster related needs of children are inadequate; this is especially true for both physicians and other healthcare responders who do not complete a specific pediatric residency. Our study seeks to determine the key core competencies of pediatric disaster medicine that should be included in the training of responders.Method:A systematic gray literature review of existing pediatric disaster medicine curricula was performed, from which a list of the most commonly present key core competencies was created.Results:Data collection and analysis is expected to be completed by April 2023 and will yield a ranked list of core competencies.Conclusion:There is a need for improved pediatric disaster training that addresses the specific considerations of children; this is especially true for non-pediatricians who may be treating children following a disaster. The gray literature review will identify key components of pediatric disaster medicine, which should be applied to all such training curricula to ensure that the care of children who suffer during and after disasters is equitable across the globe.

Salt diet Induces Neuroinflammatory Response, Microbiome Dysregulation and Associated with Long-term Anxiety Following Repetitive Closed Head Injury. (S28.003)

<h3>Objective:</h3> Investigate the effects of salt diet on neuroinflammatory response, behavior, and microbiome dysregulation following repetitive closed head injury model. <h3>Background:</h3> Concussions continue to be a prominent public health concern, with an estimated 1.6–3.8 million incidences annually in the United States. Younger populations are experiencing the highest rates of concussion and nearly all athletic endeavors have some risk of concussive injury. Concerns surrounding the potential risks of long-term cognitive and medical outcomes made adolescent traumatic brain injury (TBI) a central focus of public attention. Coupled to these events, recent clinical studies have shown that lifestyle factors, including salt diet, constitute additional risk affecting TBI consequences and neuropathophysiological outcomes. However, the impact of salt diet on the pathophysiology of TBI and whether it exacerbates post-injury outcomes is still largely unknown. <h3>Design/Methods:</h3> We investigated if the exposure to a high salt diet (HSD) would alter hemodynamics, behavior, innate immune response and microbiome diversity after repetitive mild closed head injury in adolescent mice. Mice were injured with a three hit model (3HD) and then maintained on a HSD or standard diet (STD) for 12 weeks. <h3>Results:</h3> We found that HSD didn’t change systolic and diastolic blood pressure, and heart rate compared with STD group. HSD group was associated with worsening anxiety-like behavior at 12 weeks post diet administration. HSD induced microgliosis and proinflammatory microglial transcriptomic signature including upregulation in interferon gamma, Interferon beta, T cells proliferation pathways. Consistently, we found upregulation of proinflammatory Tumor necrotic factor (TNF) in brain compared to Sham-HSD and TBI-STD groups. HSD was the main driver of microbiome dysregulation in both TBI and Sham groups. We found that Eubacterium xylanophilum and Lachnospiraceae bacterium associated with an anxiety phenotype following injury at 12 weeks post diet administration. <h3>Conclusions:</h3> Salt diet associated with increasing risk of worsening anxiety and exacerbating chronic neuroinflammation post repetitive head injury. <b>Disclosure:</b> Dr. Izzy has received publishing royalties from a publication relating to health care. Taha Yahya has nothing to disclose. Dr. Cao has nothing to disclose. Mr. Albastaki has nothing to disclose. Dr. Waed has nothing to disclose. Ms. Chopra has nothing to disclose. Miss EKWUDO has nothing to disclose. Miss Kurdeikaite has nothing to disclose. Ms. Moraes Verissimo has received personal compensation for serving as an employee of Brigham and Women’s Hospital. Ms. Moraes Verissimo has received personal compensation for serving as an employee of Brigham and Women’s Hospital and Harvard Medical School. Ms. Moraes Verissimo has received personal compensation for serving as an employee of Von Medical, Inc.. Ms. Moraes Verissimo has received personal compensation for serving as an employee of Nova Southeastern University. Ms. Moraes Verissimo has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Montachem Company. Dr. Cox has received personal compensation for serving as an employee of Anaerobe Systems. The institution of Dr. Cox has received research support from Infectious Disease Society. The institution of Dr. Cox has received research support from BrightFocus Foundation. Dr. Cox has received intellectual property interests from a discovery or technology relating to health care. Dr. Zafonte has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for MYOMO. Dr. Zafonte has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Kisbee. Dr. Zafonte has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Frontiers in Neurology. The institution of Dr. Zafonte has received research support from NIDILRR. The institution of Dr. Zafonte has received research support from NIH. The institution of Dr. Zafonte has received research support from FPHS study. Dr. Zafonte has received publishing royalties from a publication relating to health care. Michael J. Whalen has nothing to disclose.

Managing Survivorship after Hematopoietic Cell Transplantation.

With improvement in survival after hematopoietic cell transplantation (HCT), it has become important to focus on the late complications experienced by the survivors that may lead to late mortality and morbidity to be able to provide patient-centered care across the transplant continuum. The goals of this article are to describe the status of literature on late complications in HCT survivors; offer a brief overview of the status of the screening, prevention, and management of these complications; and identify opportunities for future practice and research. This is an exciting time for the field with increasing awareness about survivorship issues. Studies are moving beyond description to examining pathogenesis of these late complications and identifying biomarkers. The eventual goal is to promote changes in our transplant techniques to decrease the incidence of these complications as well as help develop interventions targeting these late effects. There is also an emphasis on improving health care delivery models to provide optimal post-HCT management for medical and psychosocial complications through close coordination between multiple stakeholders and leveraging technology to help address the barriers in delivery of care to fulfill the unmet needs in this area. The increasing population of HCT survivors with their burden of late effects underscores the need for concerted efforts to improve long-term medical and psychosocial outcomes for this group.

Diagnostic Utility of Spinal Ultrasounds in Neonates.

Ultrasound (US) is a common imaging modality used to evaluate spinal anomalies in newborns. However, many indications for the use of spinal US are associated with low diagnostic yield. The purpose of this study is to evaluate the indications and the diagnostic utility of spinal USs performed in newborns at our institution. We also review patient presentations for caudal regression syndrome (CRS) that was identified from the USs performed. This study is a retrospective review of spinal USs performed between January 1, 2006, and December 31, 2021, in newborns at a single institution. Indications for each US and any associated abnormalities were noted. Infants with abnormal USs showing CRS are described with their long-term medical outcomes. A total of 592 USs were performed during the specified time period of which 72 (12%) were abnormal. The presence of a sacral dimple was the most common indication for performing a spinal US, although only 14 (4%) were identified as abnormal. Of these 14, 6 (43%) were further evaluated by spinal magnetic resonance imaging (MRI) at the recommendations of a pediatric radiologist and of these, only 2 (14%) had abnormal MRI findings. The two newborns with abnormal MRI findings had mothers with diabetes mellitus in their pregnancies. Of note, one additional newborn had abnormalities on spinal US that was never confirmed on MRI due to being lost to follow-up. Among the other indications, anorectal anomalies (odds ratio [OR], 7.55; 95% confidence interval [CI], 3.01-18.91), spinal mass (OR, 17.99; 95% CI, 7.86-41.2), and meningocele were most associated with abnormal findings. Overall, spinal US has a low diagnostic yield. Sacral dimple was the most common indication for performing a spinal US but had a low yield with few long-term sequelae. Anorectal anomalies had a strong association with abnormal US findings. · Sacral dimple is a common indication for spinal ultrasound.. · Spinal ultrasound has low diagnostic yield when performed for sacral dimple.. · Caudal regression syndrome is associated with maternal diabetes and numerous long-term comorbidities..

Impact of Spina Bifida on Sleep Quality: Current Insights.

Spina bifida (SB) is one of the most common birth defects in children. The care for patients with SB continues to evolve, and there has been notable improvement in survival outcomes, degree of disability and quality of life for these children. However, patients with SB continue to remain at higher risk for sleep-related breathing disorders (SRBD), unexplained sudden death, and potential alterations in their sleep chronotype. Previous studies report on abnormalities in the spinal cord, brainstem function, and dysfunction of upper airway maintenance as the likely mechanisms behind SRBD that is commonly seen in SB. Most studies looking at prevalence of SRBD in SB have been retrospective studies. A recent prospective study identified a prevalence as high as 42% when a polysomnography (PSG) was completed on all patients regardless of symptomatology. Treatment options vary depending on the type and severity of SRBD and can range widely. Despite advances in care for patients with SB and SRBD, a subset of these patients with myelomeningocele (MMC) continue to experience sudden unexplained death. Studies continue to evaluate ways to stratify which of these patients may be at higher risk of this devastating outcome. Given that SRBD is potentially treatable, early assessment and intervention could become an integral part of a multidisciplinary treatment strategy to optimize long-term medical and neurodevelopmental outcomes for this patient population. By understanding the impact that SB may have on a patient's sleep quality, their biological chronotype and their potential of developing SRBD, a provider may help to optimize the care a patient with SB receives from birth into adulthood.

A Primer on How to Critically Read an Observational Study on Adverse Medical Outcomes Associated With Long-Term Antidepressant Drug Use

Whether long-term antidepressant use predisposes to or protects against adverse medical outcomes is unclear. In this context, a recent retrospective cohort study found that, for example, at a 10-year follow-up, selective serotonin reuptake inhibitors lowered the risk of diabetes mellitus and hypertension but raised the risk of cerebrovascular disease, cardiovascular mortality, and all-cause mortality. The findings of this study were widely and uncritically covered in the lay and medical media with potential to adversely impact opinions about antidepressant treatment among patients, caregivers, and health care professionals. This article critically evaluates the study with a view to discuss its limitations and, more importantly, to arm the reader with skills to critically appraise other, similar studies. Concepts explained include confounding by indication, regression, and approaches to deal with confounding. Problems with the study identified and explained are incomplete adjustment for confounding, failure to correct for multiple hypothesis testing, the use of backward stepwise regression as a method of analysis, failure to consider reverse causation, and failure to remove death by suicide from analyses of all-cause mortality. Other limitations of the study are also discussed. A take-home message is that it is well established that depression is associated with substantial disability and risk of suicide and that antidepressant drugs treat depression and prevent relapse and recurrence; in contrast, no causal role for antidepressants in long-term adverse medical outcomes is established. Therefore, known long-term benefits with antidepressants must be weighed against unproven predispositions to long-term medical adverse effects in shared decision-making processes.

MEDB-07. Long-term medical and functional outcomes of medulloblastoma survivors: a population-based, matched cohort study

BACKGROUND: Most medulloblastoma survivors suffer from late treatment-related sequelae. There are no population-based studies examining such late effects in a dedicated cohort of medulloblastoma survivors. METHODS: Using a provincial pediatric cancer registry, all 5+ year medulloblastoma survivors diagnosed between 1987-2015 in Ontario, Canada were identified and matched to cancer-free population controls based on age, sex, and geographical location. Cases were followed from the index date (five years from latest of diagnosis, or relapse or subsequent malignancy prior to age 18 years) until December 31, 2020 or censorship (death, or relapse or new cancer after age 18 years). Clinical data were linked to administrative health databases to estimate cumulative incidences and cause-specific hazard ratios (HR) of mortality, hospitalizations, strokes, hearing loss requiring a hearing aid, and receipt of homecare services between cohorts, accounting for matching and competing risks. RESULTS: We identified 230 cases [65.7% female; median diagnostic age: 7y, interquartile range (IQR) 4-10; median attained age: 24y, IQR 18-31] and 1150 controls. One hundred eighty-seven (81.3%) received craniospinal irradiation. Ten-year survival probability after index was 92.4% in cases and 99.4% in controls (HR 21.5, 95% CI 9.8-54.0). Cases were at higher risk for hospitalizations (HR 3.4, 95% CI 2.7-4.3), stroke (HR 45.6, 95% CI 12.8-289.8), hearing loss (HR 96.3, 95% CI 39.7-317.3), and requiring homecare services (HR 7.9, 95% CI 5.8-10.9). By 10 years after index, 4.8% (95% CI 2.2-9.0) of survivors had experienced a stroke compared to 0.1% (95% CI 0.01-0.7) of controls. CONCLUSIONS: Survivors of childhood medulloblastoma experienced an increased risk of mortality and serious morbidity compared to population controls. Consideration for mitigation strategies or early interventions in preventing neurovascular sequelae and hearing loss is warranted, as are dedicated supports for survivors.

Long-term medical and functional outcomes of ependymoma survivors: A population-based, matched cohort study.

10054 Background: Ependymoma is the third most common pediatric central nervous system tumour. Treatment approaches are intensive and may include surgery, radiation, and chemotherapy. There are no longitudinal population-based cohort studies evaluating the long-term medical and functional outcomes of survivors of childhood ependymoma. Methods: Using a provincial pediatric cancer registry, all 5+ year ependymoma survivors diagnosed between 1987-2015 in Ontario, Canada were identified and matched to cancer-free population controls based on age, sex, and geographical location. Cases were followed from the index date (5 years from latest of diagnosis, or relapse/subsequent malignancy prior to age 18 years) until December 31, 2020 or censorship (death, or relapse/ new cancer after age 18 years). Clinical data were linked to administrative health databases to estimate the cumulative incidences and cause-specific hazard ratios (HR) of mortality, hospitalizations, strokes, hearing loss requiring a hearing aid, receipt of homecare services, and subsequent malignant neoplasms (SMNs) between cohorts, accounting for matching and competing risks. Results: Of 166 ependymoma diagnoses in the study period, 70 (42.2%) were excluded, most commonly due to early death prior to the index date. Ninety-six cases were matched to 480 controls (Table). The 10-year survival probability after the index date was 92.8% in cases and 99.6% in controls (HR 9.3, 95% CI 2.3-45.2, p=0.002). Compared to controls, cases were at higher risk of hospitalization (HR 3.2, 95% CI 2.2-4.6, p&lt;0.0001), stroke (HR 33.3, 95% CI 5.7-629.1, p&lt;0.0001), and receiving homecare services (HR 4.1, 95% CI 2.5-6.5, p&lt;0.0001). Cases were at high risk of hospitalizations, strokes, hearing loss, and SMNs, with cumulative incidences of 64.7% (95% CI 46.6-78.0), 9.7% (95% CI 3.4-19.9), 13.5% (95% CI 5.3-25.5), and 12.8% (95% CI 4.7-24.9) at 20-years post index date, respectively. Conclusions: As survival of pediatric ependymoma improves, establishing the burden of late morbidity is critical. Dedicated screening programs for late sensory and neurovascular sequelae are warranted, as are interventions during and following treatment to mitigate the risk of developing such complications. [Table: see text]

Long-term medical and functional outcomes of medulloblastoma survivors: A population-based, matched cohort study.

10053 Background: Most medulloblastoma survivors suffer from late treatment-related sequelae. There are no population-based studies examining such late effects in a dedicated cohort of medulloblastoma survivors. Methods: Using a provincial pediatric cancer registry, all 5+ year medulloblastoma survivors diagnosed between 1987-2015 at &lt;18 years of age in Ontario, Canada were identified and matched to cancer-free population controls based on age, sex, and geographical location. Cases were followed from the index date (five years from latest of diagnosis, or relapse/subsequent malignancy prior to age 18 years) until December 31, 2020 or censorship (death, or relapse/new cancer after age 18 years). Clinical data were linked to administrative health databases to estimate the cumulative incidences and cause-specific hazard ratios (HR) of mortality, hospitalizations, strokes, hearing loss requiring a hearing aid, and receipt of homecare services between cohorts, accounting for matching and competing risks. We evaluated demographic, disease, and treatment predictors of mortality using Cox proportional hazards models. Results: Of 389 medulloblastoma diagnoses in the study period, 159 (40.9%) were excluded, most commonly due to early death prior to the index date. Two hundred thirty cases were matched to 1150 controls (Table). Ten-year survival probability after index was 92.4% in cases and 99.4% in controls (HR 21.5, 95% CI 9.8-54.0). Cases were at higher risk for hospitalizations (HR 3.4, 95% CI 2.7-4.3), stroke (HR 45.6, 95% CI 12.8-289.8), hearing loss (HR 96.3, 95% CI 39.7-317.3), and requiring homecare services (HR 7.9, 95% CI 5.8-10.9). By 10 years after index, 4.8% (95% CI 2.2-9.0) of survivors had experienced a stroke compared to 0.1% (95% CI 0.01-0.7) of controls. None of the candidate predictors were significantly associated with mortality on univariate analyses. Conclusions: Survivors of childhood medulloblastoma experienced an increased risk of mortality and serious morbidity compared to population controls. Consideration for mitigation strategies or early interventions for preventing neurovascular sequelae and hearing loss is warranted, as is dedicated supports for survivors. [Table: see text]

Is departure from genetically predicted fetal birth weight associated with evidence of adult metabolic dysfunction?

Abnormal fetal growth is associated with long-term medical outcomes, but genetic factors impacting growth are usually not considered. Birth weight (BW) is not driven by a single genetic locus, but rather by many individual single nucleotide polymorphisms (SNPs). These SNPs can be used to derived a genetic risk score (GRS) for BW. We hypothesized that a fetal GRS could be used to calculate an individualized ideal BW and that the discrepancy between actual and ideal BW is associated with evidence of metabolic syndrome in adulthood.

Long-term medical and social outcomes of patients with Lennox-Gastaut syndrome

ObjectiveThe aim of the current study was to investigate the long-term outcome in a large cohort of patients with Lennox-Gastaut syndrome (LGS). MethodsThis was a longitudinal study (a retrospective database review with a telephone follow-up interview). All patients 18 years of age and older, with a diagnosis of LGS were studied at the outpatient epilepsy clinic at Shiraz University of Medical Sciences, Shiraz, Iran, from 2008 until 2020. The inclusion criteria were: multiple seizure types, characteristic electroencephalographic patterns [either bursts of slow spike-waves or generalized paroxysmal fast activity], with or without intellectual disability. Being lost on follow-up was the only exclusion criterion. Results78 patients fulfilled the inclusion criteria. All the patients were followed for one to 12 years (9.3 ± 2.8 years). In the last follow-up (call), 14 patients (17.9%) were seizure-free for at least 12 months. Tonic seizure at diagnosis was associated with a poor seizure outcome (not seizure-free) (p = 0.045). Four patients (5.1%) reported having high school degree (diploma), four patients (5.1%) were married, and one person (1.3%) reported driving a motor vehicle; none of the patients were employed. ConclusionA minority of patients with LGS (almost one in six patients) may enjoy a seizure-free state in their adulthood. However, very few of them could enjoy a healthy social life. While intellectual dysfunction may not be evident at the onset of the disease, cognitive impairment usually becomes apparent over time, and almost all patients would suffer from poor social outcomes in their adulthood.