Visual Acuity Prediction Based on Different Refraction Types For Patients With Down Syndrome.

Purpose: The purpose of this study was to determine if control observers can be used as surrogates to predict visual acuity (VA) of patients with Down syndrome (DS). Methods: Thirty adults with DS were enrolled in a clinical trial testing three refraction types: clinical refraction and two using wavefront aberration measures to optimize the metrics pupil fraction tessellated (PFSt) and visual Strehl ratio (VSX). Monocular VA was obtained through habitual refractions and each experimental refraction type. Five controls without DS viewed acuity charts simulating the retinal image produced when the corrections for each DS eye are worn, performing VA and scoring image quality of each chart. Group median VA (DS versus controls) were compared for each refraction type, and control image quality scores were compared to corresponding VA across refraction types. Results: Median VA for participants with DS ranged from 0.46 logMAR (interquartile range [IQR] = 0.32 to 0.54) with habitual correction to 0.36 logMAR (IQR = 0.28 to 0.54) with VSX, whereas controls ranged from 0.37 logMAR (IQR = 0.29 to 0.42) with habitual correction to 0.01 logMAR (IQR = -0.02 to 0.05) with VSX. Overall image quality scores were best for PFSt and VSX and showed a strong linear relationship with control VA (r = -0.91, P < 0.001), and a lesser correlation with DS VA (r = -0.33, P < 0.001). Conclusions: Using surrogate observers to judge image quality simulations of eyes with DS did not predict actual VA, suggesting additional, non-optical factors may be limiting VA in individuals with DS. Translational Relevance: Findings may guide clinical refraction practices for patients with DS.

Identifying predictive factors for bowel control in patients with spina bifida and spinal cord injuries.

PURPOSE: This study aimed to assess our bowel management program (BMP) and identify predictive factors for bowel control in patients with Spina Bifida (SB) and Spinal Cord Injuries (SCI). Additionally, in patients with SB, we examined the impact of fetal repair (FRG) on bowel control. METHODS: We included all patients with SB and SCI seen in the Multidisciplinary Spinal Defects Clinic at Children's Hospital Colorado from 2020 to 2023. RESULTS: 336 patients included. Fecal incontinence was present in 70% and bowel control in 30%. All patients with urinary control also had bowel control. Fecal incontinence prevalence was higher in patients with ventriculoperitoneal (VP) shunt (84%), urinary incontinence (82%), and wheelchair users (79%) compared to those who did not need a VP shunt (56%), had urinary continence (0%) and non-wheelchair users (52%), respectively (p = < 0.001 in all three scenarios). After completing BMP, 90% remained clean for stool. There was no statistical significance when comparing bowel control in FRG with non-fetal repair group. CONCLUSIONS: Urinary continence predicts bowel control in patients with SB and SCI. Risk factors for fecal incontinence were the need for a VP shunt, urinary incontinence, and wheelchair usage. We did not find any positive impact of fetal repair on bowel and urinary control.

Radiologically supervised bowel management program outcome in patients with chronic idiopathic constipation.

PURPOSE: This study aimed to analyze our radiologically supervised bowel management program (RS-BMP) outcomes in patients with chronic idiopathic constipation (CIC). METHODS: A retrospective study was conducted. We included all patients with CIC who participated in our RS-BMP at Children´s Hospital Colorado from July 2016 to October 2022. RESULTS: Eighty patients were included. The average time with constipation was 5.6 years. Before our RS-BMP, 95% had received non-radiologically supervised treatments, and 71% had attempted two or more treatments. Overall, 90% had tried Polyethylene Glycol and 43% Senna. Nine patients had a history of Botox injections. Five underwent anterograde continence procedure, and one a sigmoidectomy. Behavioral disorders (BD) were found in 23%. At the end of the RS-BMP, 96% of patients had successful outcomes, 73% were on Senna, and 27% were on enemas. Megarectum was detected in 93% of patients with successful outcomes and 100% with unsuccessful outcomes (p = 0.210). Of the patients with BD, 89% had successful outcomes, and 11% had unsuccessful. CONCLUSION: Our RS-BMP has been proven to be effective in treating CIC. The radiologically supervised use of Senna and enemas was the appropriate treatment in 96% of the patients. BD and megarectum were associated with unsuccessful outcomes.

Design and rationale of re-energize fontan: Randomized exercise intervention designed to maximize fitness in fontan patients.

In this manuscript, we describe the design and rationale of a randomized controlled trial in pediatric Fontan patients to test the hypothesis that a live-video-supervised exercise (aerobic+resistance) intervention will improve cardiac and physical capacity; muscle mass, strength, and function; and endothelial function. Survival of children with single ventricles beyond the neonatal period has increased dramatically with the staged Fontan palliation. Yet, long-term morbidity remains high. By age 40, 50% of Fontan patients will have died or undergone heart transplantation. Factors that contribute to onset and progression of heart failure in Fontan patients remain incompletely understood. However, it is established that Fontan patients have poor exercise capacity which is associated with a greater risk of morbidity and mortality. Furthermore, decreased muscle mass, abnormal muscle function, and endothelial dysfunction in this patient population is known to contribute to disease progression. In adult patients with 2 ventricles and heart failure, reduced exercise capacity, muscle mass, and muscle strength are powerful predictors of poor outcomes, and exercise interventions can not only improve exercise capacity and muscle mass, but also reverse endothelial dysfunction. Despite these known benefits of exercise, pediatric Fontan patients do not exercise routinely due to their chronic condition, perceived restrictions to exercise, and parental overprotection. Limited exercise interventions in children with congenital heart disease have demonstrated that exercise is safe and effective; however, these studies have been conducted in small, heterogeneous groups, and most had few Fontan patients. Critically, adherence is a major limitation in pediatric exercise interventions delivered on-site, with adherence rates as low as 10%, due to distance from site, transportation difficulties, and missed school or workdays. To overcome these challenges, we utilize live-video conferencing to deliver the supervised exercise sessions. Our multidisciplinary team of experts will assess the effectiveness of a live-video-supervised exercise intervention, rigorously designed to maximize adherence, and improve key and novel measures of health in pediatric Fontan patients associated with poor long-term outcomes. Our ultimate goal is the translation of this model to clinical application as an "exercise prescription" to intervene early in pediatric Fontan patients and decrease long-term morbidity and mortality.

A systematic review of social determinants of health in pediatric organ transplant outcomes.

BACKGROUND: Equitable access to pediatric organ transplantation is critical, although risk factors negatively impacting pre- and post-transplant outcomes remain. No synthesis of the literature on SDoH within the pediatric organ transplant population has been conducted; thus, the current systematic review summarizes findings to date assessing SDoH in the evaluation, listing, and post-transplant periods. METHODS: Literature searches were conducted in Web of Science, Embase, PubMed, and Cumulative Index to Nursing and Allied Health Literature databases. RESULTS: Ninety-three studies were included based on pre-established criteria and were reviewed for main findings and study quality. Findings consistently demonstrated disparities in key transplant outcomes based on racial or ethnic identity, including timing and likelihood of transplant, and rates of rejection, graft failure, and mortality. Although less frequently assessed, variations in outcomes based on geography were also noted, while findings related to insurance or SES were inconsistent. CONCLUSION: This review underscores the persistence of SDoH and disparity in equitable transplant outcomes and discusses the importance of individual and systems-level change to reduce such disparities.

Bereaved Caregiver Perspectives on the End of Life in Pediatric Patients With Ventricular Assist Devices.

OBJECTIVES: Ventricular assist devices (VADs) are increasingly used in pediatric heart failure as bridges to heart transplantation, although 25% will die with VADs. Family experiences in this population are not well-described. The objective is to understand bereaved families' perspectives on VAD and end-of-life decision-making. DESIGN: Semistructured interviews with bereaved caregivers of pediatric VAD patients. SETTING: Tertiary children's hospital. PATIENTS: Families of six pediatric VAD patients who died from 2014 to 2020. INTERVENTIONS: Not available. MEASUREMENTS AND MAIN RESULTS: Applying a grounded theory framework, interviews were coded by two independent readers using qualitative software. Themes were discussed in iterative multidisciplinary meetings. Participants were interviewed at a median 2.4 years after their child died. Three major themes emerged: 1) "lack of regret" for VAD implantation despite the outcome; 2) "caregiver-child accord" (via patient's verbal assent or physical cues) at implantation and end-of-life was important in family decision-making; and 3) development of a "local surrogate family" (medical team and peer families) provided powerful support. CONCLUSIONS: Bereaved families' perspectives provide insight into quality decision-making for major interventions and end-of-life care in pediatric patients with chronic illness who face decisions regarding technology dependence.

Interpersonal Family Dynamics Relate to Hippocampal CA Subfield Structure.

Social environments that are extremely enriched or adverse can influence hippocampal volume. Though most individuals experience social environments that fall somewhere in between these extremes, substantially less is known about the influence of normative variation in social environments on hippocampal structure. Here, we examined whether hippocampal volume tracks normative variation in interpersonal family dynamics in 7- to 12-year-olds and adults recruited from the general population. We focused on interpersonal family dynamics as a prominent feature of one's social world. Given evidence that CA1 and CA2 play a key role in tracking social information, we related individual hippocampal subfield volumes to interpersonal family dynamics. More positive perceptions of interpersonal family dynamics were associated with greater CA1 and CA2/3 volume regardless of age and controlling for socioeconomic status. These data suggest that CA subfields are sensitive to normative variation in social environments and identify interpersonal family dynamics as an impactful environmental feature.

Posttraumatic stress disorder in pediatric patients with implantable cardioverter-defibrillators and their parents.

BACKGROUND: An implantable cardioverter-defibrillator (ICD) in the pediatric patient (and the precipitating events that led to ICD placement) can be traumatic for patients and their families and may lead to posttraumatic stress disorder (PTSD). OBJECTIVES: This study aimed to estimate the prevalence of PTSD in pediatric patients with an ICD and their parents and identify the factors associated with PTSD incidence. METHODS: Pediatric participants with an ICD aged 8-21 years and parents of children aged 0-21 years completed surveys that included demographic characteristics and PTSD measures. Pediatric participants completed additional psychosocial measures, such as anxiety and depression self-report questionnaires. RESULTS: Fifty youth (30% female) and 43 parents (70% female) completed the measures. Six of 50 youth (12%) met the screening criteria for a likely PTSD diagnosis, while 20 of 43 parents (47%) met the cutoff for PTSD on the screening measure. Children with PTSD were more likely to have had a secondary prevention ICD (83% vs 17%; P = .021), meet the clinical cutoff for depression (67% vs 16%; P = .005), and had higher shock anxiety scores (31.7 vs 17.9; P = .003) than children without PTSD. Female gender (57% vs 23%; P = .043) and patient depression (31% vs 5%; P = .042) were associated with PTSD in parents. CONCLUSION: Parents were found to be more likely to meet the criteria for PTSD than youth. In youth, PTSD was associated with medical and psychosocial factors, whereas PTSD in parents was associated with being female and child depression. Clinic-based screenings and management planning of emotional functioning are warranted to address psychological distress in patients and parents.

Feasibility of Assessing Adolescent and Young Adult Heart Transplant Recipient Mental Health and Resilience Using Patient-Reported Outcome Measures.

BACKGROUND: Although adolescents and young adults may be particularly prone to mental health symptoms after heart transplant, screening practices are variable. OBJECTIVE: To assess the feasibility of using patient-reported outcome (PRO) measures to assess mental health, functional status, and resiliency in posttransplant adolescents and young adult patients. METHODS: Patients transplanted between ages 15 and 25 years at 3 centers completed 6 PRO instruments via web-based platforms: PROMIS instruments for anxiety, depression, satisfaction with social roles, and physical functioning; the Posttraumatic Stress Diagnostic Scale for Diagnostic and Statistical Manual of Mental Disorders, version 5; and the Connor-Davidson Resilience Scale-10. Feasibility (completion, time to completion, and measure missingness) and PRO results were described and compared between patients with congenital heart disease and cardiomyopathy. RESULTS: Nineteen patients (median age at transplant 17.7 y [interquartile range 16.3, 19.2 y], 84% male) were enrolled at an average of 3 ± 1.8 years after transplant. Enrollment was 90% among eligible patients. Measure missingness was zero. The average completion time was 12 ± 15 minutes for all instruments. Timely PRO completion was facilitated by in-clinic application. The PRO results indicated that 9 patients (47%) had at least mild posttraumatic stress disorder symptoms (≥11 points on Posttraumatic Stress Diagnostic Scale for Diagnostic and Statistical Manual of Mental Disorders, version 5). Among them, 4 patients had scores >28 suggestive of probable posttraumatic stress disorder. Two (11%) and 6 (32%) patients had anxious and depressive symptoms, respectively. The cardiomyopathy cohort had a higher median Posttraumatic Stress Diagnostic Scale for Diagnostic and Statistical Manual of Mental Disorders, version 5 score than that of the congenital heart disease subgroup (11.0 vs 6.0; P = 0.015). Twelve (63%) had resiliency scores that were lower than the population average. No significant differences were found in PRO results between patients with cardiomyopathy and congenital heart disease apart from the posttraumatic stress disorder assessment. CONCLUSIONS: This novel PRO-based approach to psychiatric screening of adolescents and young adult patients after transplant appears feasible for assessing mental health, functional status, and resiliency, with excellent enrollment and completion rates. These instruments characterized the burden of mental health symptoms within this adolescents and young adult heart transplant cohort, with a high prevalence of posttraumatic stress disorder symptoms. Resiliency scores were lower than in a comparison population. Electronically-administered PRO administration could facilitate more consistent mental health screening in this at-risk group.

A Case of Abulia From Left Middle Cerebral Artery Stroke in an Adolescent Treated Successfully With Short Duration Olanzapine.

INTRODUCTION: Abulia is defined as a pathological state of amotivation, apathy, and global absence of willpower. It presents with a challenging array of overlapping symptoms, making effective identification and treatment difficult. CASE PRESENTATION: We describe the first known report of an adolescent with a ventricular assist device who developed abulia following a left middle cerebral artery (MCA) stroke who responded successfully to treatment with olanzapine. DISCUSSION: The neurobiological etiology of abulia is still unclear but is postulated to be related to deficits in the dopaminergic reward circuitry in the frontal-subcortical-mesolimbic regions. There have been reports of poststroke patients with abulia being treated by modulating this dopamine circuitry and in some cases with short-term low-dose olanzapine. CONCLUSION: Further research is needed to develop a better understanding of the pathophysiology of abulia leading to more effective treatment algorithms including more specific diagnostic tools and effective pharmacological interventions.

An exploratory assessment of pediatric patient and parent needs after implantable cardioverter defibrillator implant.

BACKGROUND: Placement of an implantable cardioverter defibrillator (ICD) is often accompanied by psychological adjustment issues in pediatric patients and their parents. Although anxiety, depression, and lowered quality of life have been seen in these patients, no studies have investigated patient or parent reported needs. This exploratory study describes the needs of pediatric ICD patients and parents and assesses whether patient factors of age, gender, depression, and anxiety are associated with specific needs. METHODS: ICD patients ages 8-21 years and their parents completed a needs analysis survey assessing various domains of functioning. Patients also completed self-reported measures of depression and anxiety. RESULTS: Thirty-two patients (28% female) and their parents (72% mothers) completed the survey. Patients' most frequently endorsed needs involved educational issues: understanding their cardiac event/diagnosis (34%), medications (34%), and how the ICD would change their lifestyle (31%). Parents' most frequently endorsed needs involved family issues; almost half of parents (47%) were concerned about their children's frustration with their overprotectiveness and 28% were concerned with their child feeling depressed or anxious. Patients who reported feeling overprotected (12.1 ± 3.4 vs 17.4 ± 3.5 years; P = .001) were significantly younger than those who did not. Experiencing peer issues was more frequently endorsed by females than males (33% of females vs 4% of males; P = .026). CONCLUSIONS: ICD patients and parents endorsed markedly different needs. Patients focused on understanding their ICD, whereas parents were more focused on their children's emotional needs. Novel ways of educating patients about their device and clinic-based screenings of emotional functioning may serve to meet these needs.

Capture of sandhill cranes using alpha-chloralose: a 10-year follow-up.

Seasonal adjustment of alpha-chloralose captures of sandhill cranes was associated with a modest increase in capture efficacy (+13%), decreased morbidity from exertional myopathy (-1.4%), and overall mortality (-1.7%) rates despite little change in sedation scores. Postcapture fluid administration also decreased confinement times by several hours over most sedation scores.

"Who can help me fix this toy?" The distinction between causal knowledge and word knowledge guides preschoolers' selective requests for information.

Preschoolers use outcomes of actions to infer causal properties of objects. We asked whether they also use them to infer others' causal abilities and knowledge. In Experiment 1, preschoolers saw 2 informants, 2 tools, and 2 broken toys. One informant (the labeler) knew the names of the tools, but his actions failed to activate the toys. The other (the fixer) was ignorant about the names of the tools, but his actions succeeded in activating the toys. Four-year-olds (and to a lesser extent, 3-year-olds) selectively directed requests for new labels to the labeler and directed requests to fix new broken toys to the fixer. In a second experiment, 4-year-olds also endorsed a fixer's (over a nonfixer's) causal explanations for mechanical failures. They did not, however, ask the fixer about new words (Experiments 1 and 2) or artifact functions (Experiment 1). Thus, preschoolers take demonstrated causal ability as a sign of specialized causal knowledge, which suggests a basis for developing ideas about causal expertise.

Intramedullary lumbosacral teratoma in a domestic ferret (Mustela putorius furo).

An 18-month-old, female, spayed domestic ferret (Mustela putorius furo) was presented for progressive hind limb paresis of 1 week duration. The ferret was mentally appropriate but cachexic and ataxic with neurological deficits, which localized the lesion to the lumbosacral region. A depression in the lumbosacral spine was associated with discomfort on palpation. Results of whole body radiographs were consistent with an abnormal angle between vertebrae L6 and S1, which resulted in hyperflexion of the spine. The ferret was euthanized, and histopathological examination revealed an intramedullary lumbosacral teratoma effacing much of the spine in the region of the mass.

Differential modulation of synaptic strength and timing regulate synaptic efficacy in a motor network.

Neuromodulators modify network output by altering neuronal firing properties and synaptic strength at multiple sites; however, the functional importance of each site is often unclear. We determined the importance of monoamine modulation of a single synapse for regulation of network cycle frequency in the oscillatory pyloric network of the lobster. The pacemaker kernel of the pyloric network receives only one chemical synaptic feedback, an inhibitory synapse from the lateral pyloric (LP) neuron to the pyloric dilator (PD) neurons, which can limit cycle frequency. We measured the effects of dopamine (DA), octopamine (Oct), and serotonin (5HT) on the strength of the LP→PD synapse and the ability of the modified synapse to regulate pyloric cycle frequency. DA and Oct strengthened, whereas 5HT weakened, LP→PD inhibition. Surprisingly, the DA-strengthened LP→PD synapse lost its ability to slow the pyloric oscillations, whereas the 5HT-weakened LP→PD synapse gained a greater influence on the oscillations. These results are explained by monoamine modulation of factors that determine the firing phase of the LP neuron in each cycle. DA acts via multiple mechanisms to phase-advance the LP neuron into the pacemaker's refractory period, where the strengthened synapse has little effect. In contrast, 5HT phase-delays LP activity into a region of greater pacemaker sensitivity to LP synaptic input. Only Oct enhanced LP regulation of cycle period simply by enhancing LP→PD synaptic strength. These results show that modulation of the strength and timing of a synaptic input can differentially affect the synapse's efficacy in the network.

Dopamine modulation of phasing of activity in a rhythmic motor network: contribution of synaptic and intrinsic modulatory actions.

The phasing of neuronal activity in a rhythmic motor network is determined by a neuron's intrinsic firing properties and synaptic inputs; these could vary in their relative importance under different modulatory conditions. In the lobster pyloric network, the firing of eight follower pyloric (PY) neurons is shaped by their intrinsic rebound after pacemaker inhibition and by synaptic input from the lateral pyloric (LP) neuron, which inhibits all PY neurons and is electrically coupled to a subset of them. Under control conditions, LP inhibition is weak and has little influence on PY firing. We examined modulation that could theoretically enhance the LP's synaptic contribution to PY firing. We measured the effects of dopamine (DA) on LP-->PY synapses, driving the LP neuron with trains of realistic waveforms constructed from prerecorded control and DA LP oscillations, which differed in shape and duration. Under control conditions, chemical inhibition underwent severe depression and disappeared; in the mixed synapses, electrical coupling dominated. Switching between control and DA LP waveforms (with or without DA present) caused only subtle changes in synaptic transmission. DA markedly enhanced synaptic inhibition, reduced synaptic depression and weakened electrical coupling, reversing the sign of the mixed synapses. Despite this, removal of the LP from the intact network still had only weak effects on PY firing. DA also enhances PY intrinsic rebound properties, which still control the onset of PY firing. Thus in a rhythmic network, the functional importance of synaptic modulation can only be understood in the context of parallel modulation of intrinsic properties.