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Several American Academy of Neurology (AAN) epilepsy practice guidelines recommend conversations that neurologists should have with patients and their parents. We sought to determine whether parents of pediatric patients with epilepsy had knowledge of epilepsy quality measures (EQMs) and whether they recalled having discussions with their child's neurologist about each of the EQM. Surveys were distributed to parents at five clinic sites associated with epilepsy centers in Washington, DC and Charlottesville, Virginia. Key questions on the parent survey included whether neurologists had discussed, or parents had knowledge of, EQM topics which included medication side effects, safety, reproductive health, transition to adult care, learning and attention problems, bone health, sudden unexpected death in epilepsy (SUDEP), and risk of epilepsy-related death. No data were collected from the neurologist or the medical record about EQM discussions. Among 233 completed surveys, parental knowledge and neurologist discussion of EQM were highly correlated (p .00001). Epilepsy quality measures most discussed with high parental knowledge were medication side effects, safety, learning and attention problems, and bone health. Sudden unexpected death in epilepsy was least discussed and known. We found consistent care practices in adherence to EQM across settings from urban to rural communities, with patients of all ages and epilepsy severities and staffed by neurologists with various levels of epilepsy expertise. Despite reported high rates of adherence on several measures, we identified opportunities for improvement. Querying and counseling about EQM should be an ongoing conversation which evolves with the child's age and epilepsy-associated risks.

Introduction To assess parental perspectives of the impact of epilepsy and seizures on siblings of children in the Seizures and Outcomes Study. Methods Parents completed surveys about their child with epilepsy, their own health and well-being, and the impact of epilepsy on unaffected siblings. Results The most common parental responses about the sibling were witnessing a seizure, protectiveness of the child with epilepsy, worry about seizures, belief that seizures cause pain, and pride toward the child with epilepsy. Embarrassment and keeping epilepsy a secret were rare. Parent reports supported that siblings that worried were more likely to have witnessed a seizure, feel sad or angry, think seizures cause pain, and have a parent with anxiety disorder. Discussion Some siblings of children with epilepsy are at risk for psychosocial problems. Primary and specialty care providers are well positioned to identify and monitor these children through evaluations and referrals as necessary.

Introduction We evaluated a multi-parametric approach to seizure detection using cardiac and activity features to detect a wide range of seizures across different people using the same model. Methods Electrocardiogram (ECG) and accelerometer data were collected from a chest-worn sensor from 62 children aged 2–17 years undergoing video-electroencephalogram monitoring for clinical care. ECG data from 5 adults aged 31–48 years who experienced focal seizures were also analyzed from the PhysioNet database. A detection algorithm was developed based on a combination of multiple heart rhythm and motion parameters. Results Excluding patients with multiple seizures per hour and myoclonic jerks, 25 seizures were captured from 18 children. Using cardiac parameters only, 11/12 generalized seizures with clonic or tonic activity were detected as well as 7/13 focal seizures without generalization. Separately, cardiac parameters were evaluated using electrocardiogram data from 10 complex partial seizures in the PhysioNet database of which 7 were detected. False alarms averaged one per day. Movement-based parameters did not identify any seizures missed by cardiac parameters, but did improve detection time for 4 of the generalized seizures. Conclusion Our data suggest that cardiac measures can detect seizures with bilateral motor features with high sensitivity, while detection of focal seizures depends on seizure duration and localization and may require customization of parameter thresholds.

Background Previous small studies suggested reduced quality of life (QOL) for people with Marfan syndrome (MFS) compared with those without MFS. The national registry of GenTAC (Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) is a longitudinal observational cohort study of patients with conditions that predispose to thoracic aortic aneurysms and dissections, including MFS. At the time of registry enrollment, GenTAC study participants are asked to complete questionnaires about demographics, medical history, health habits, and QOL. Objectives This study assessed QOL in GenTAC participants with MFS and identify associated factors using self-reported data. Methods QOL was assessed using the 4 subscales of the Physical Component Summary (PCS) of the Medical Outcomes Study 36-Item Short-Form Health Survey (SF-36): physical functioning; role limitations due to physical health; bodily pain; and general health. We studied the association of QOL with self-reported demographics, health behaviors, physical impairments, surgeries, comorbid medical conditions, medications, and MFS severity. Results In the GenTAC registry, 389 adults with MFS completed the SF-36. Mean age was 41 years, 51% were men, 92% were white, and 65% were college graduates. The mean PCS composite score was 42.3. In bivariate analysis, predictors of better QOL included college education, marital status, higher household income, private health insurance, full-time employment, moderate alcohol use, fewer prior surgeries, fewer comorbid conditions, absence of depression, and less severe MFS manifestations. In a multivariable analysis, insurance status and employment remained significant predictors of QOL. Conclusions In a large cohort of patients with MFS in the GenTAC registry, health-related QOL was below the population norm. Better QOL was independently associated with socioeconomic factors, not factors related to general health or MFS severity.

The Seizures and Outcomes Study in Children (SOS-KIDS) identifies risk factors, etiologies, and comorbidities in a pediatric epilepsy population in a major city with diversity in socioeconomic levels. A thorough understanding of the range of issues impacting children with epilepsy is critical to establishing treatment that will produce better health outcomes. SOS-KIDS is a cross-sectional cohort study of pediatric epilepsy patients who live in Washington D.C. and are evaluated at Children’s National Hospital. Families were recruited at the time of the child’s routine clinic appointment or inpatient visit. Information was extracted from participants’ electronic medical records (EMR) and parent reports; participants were screened for comorbidities using standardized screening measures. Data were collected from 289 participants (47% female, 53% male), and mean age was 7.9 years (2 months to 17 years). Twenty-nine percent of participants had primary generalized epilepsy, 63% focal epilepsy, 0.3% combined generalized and focal epilepsy, and 8% could not be distinguished. There were a variety of epilepsy risk factors including prematurity (10%), intraventricular hemorrhage (7%), neonatal seizures (8%), and febrile seizures (17%). The most common etiologies were cerebral malformations (13%) and genetic disorders (25%). Numerous participants had documented comorbidities including developmental delay (56%), intellectual disability (20%), headaches (16%), attention-deficit hyperactivity disorder (23%), and autism (7%). Of participants aged six years and older, depression, and anxiety were reported in 5% and 6% within the EMR, 14% and 19% in parent surveys, and 22% and 33% with standardized screening measures. We identified a wide variety of risk factors and etiologies among urban pediatric epilepsy patients, with genetic and structural being the most common. Neurologic and psychiatric comorbidities were common, but the prevalence of several psychiatric disorders reported within the EMR was substantially lower compared to that found when using parent surveys and standardized screening measures.

Objectives This study sought to evaluate variability in aortic measurements with multiple imaging modalities in clinical centers by comparing with a standardized measuring protocol implemented in a core laboratory. Background In patients with aortic disease, imaging of thoracic aorta plays a major role in risk stratifying individuals for life-threatening complications and in determining timing of surgical intervention. However, standardization of the procedures for performance of aortic measurements is lacking. Methods To characterize the diversity of methods used in clinical practice, we compared aortic measurements performed by echocardiography, computed tomography (CT), and magnetic resonance imaging (MRI) at the 6 GenTAC (National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) clinical centers to those performed at the imaging core laboratory in 965 studies. Each center acquired and analyzed their images according to local protocols. The same images were subsequently analyzed blindly by the core laboratory, on the basis of a standardized protocol for all imaging modalities. Paired measurements from clinical centers and core laboratory were compared by mean of differences and intraclass correlation coefficient (ICC). Results For all segments of the ascending aorta, echocardiography showed a higher ICC (0.84 to 0.93) than CT (0.84) and MRI (0.82 to 0.90), with smaller mean of differences. MRI showed higher ICC for the arch and descending aorta (0.91 and 0.93). In a mixed adjusted model, the different imaging modalities and clinical centers were identified as sources of variability between clinical and core laboratory measurements, whereas age groups or diagnosis at enrollment were not. Conclusions By comparing core laboratory with measurements from clinical centers, our study identified important sources of variability in aortic measurements. Furthermore, our findings with regard to CT and MRI suggest a need for imaging societies to work toward the development of unifying acquisition protocols and common measuring methods.

Objective To evaluate the impact of pediatric sleep disturbances and night-time seizure monitoring of children with rare epilepsy syndromes on the sleep quality and mental health of caregivers. Study design A cross-sectional study was conducted using caregiver entered data from the Rare Epilepsy Network on pediatric sleep disturbances and Patient Reported Outcomes Measurement Information System measures for caregiver fatigue, sleep disturbance, sleep-related impairment, depression, anxiety, companionship, and cognition. Logistic regression was used to examine associations between risk factors and caregiver sleep quality. Results Non-Hispanic white mothers comprised 83% of the 742 respondents in this study. After adjusting for covariates, difficulty falling asleep, excessive daytime sleepiness, frequent night-time awakenings, and very restless sleep in children were associated with fatigue (aOR 95% CI, 1.5-2.2), sleep-related disturbance (aOR 95% CI, 1.7-2.6) and sleep impairment (aOR 95% CI, 1.5-2.4) in caregivers. Caregiver anxiety (aOR 95% CI, 3.6-6.0) and depression (aOR 95% CI, 2.8-6.0) were also highly associated with their fatigue and sleep quality, whereas companionship (aOR 95% CI, 0.3-0.4) and higher caregiver cognition (aOR 95% CI, 0.1-0.2) were protective. In addition, sharing a room or bed or using methods that require listening for seizures were significantly related to sleep disturbance and fatigue in the caregivers. Conclusions In rare epilepsies, pediatric sleep disturbances and night-time seizure monitoring are significantly associated with caregiver fatigue and poor sleep quality. In addition to the intense caregiving needs of children with rare epilepsies, fatigue and poor sleep quality in caregivers may contribute to or result from mental health problems.

Background For patients with thoracic aortic aneurysms (TAA), aortic size on imaging is widely used to guide clinical decision making. This study examined the impact of methodological variance on aortic quantification. Methods We studied enrollees in the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions. Aortic size on computed tomography was quantified by 2 linear methods; cross-sectional dimensions in axial (AX) and double oblique (DO) plane. Calculated area was compared to planimetry. Established cutoffs (area/height >10 cm 2 /m, diameter ≥ 5cm) for prophylactic TAA repair were used to compare surgical eligibility by each method. Results Fifty subjects were studied. Aortic size differed between AX and DO at all locations ( p ≤ 0.001), with magnitude greatest at the sinotubular junction (4.8 ± 1.1 vs 4.0 ± 1.0 cm, p p p p p = 0.006). Using a linear cutoff, AX yielded over a twofold greater prevalence of surgically eligible subjects (56%) than did DO (24%; p Conclusions Established linear methods for aortic measurement yield different results that impact surgical eligibility. DO yielded improved agreement with planimetry and differed with AX in proportion to aortic geometric obliquity. Findings support DO measurements for imaging evaluation of subjects with TAA.

To describe the prevalence and characteristics of comorbidities in persons with rare epilepsies.Persons with rare epilepsies and caregivers of those affected were recruited through the Epilepsy Foundation and more than 30 rare epilepsy advocacy organizations affiliated with the Rare Epilepsy Network (REN). A web-based survey was conducted using a questionnaire consisting of core sections to collect data from affected persons on various aspects, including comorbidities. Comorbidity information was grouped into 15 classes, 12 of which had a stem question followed by detailed branch questions and 3 that were created from a combination of related questions.Of 795 persons with more than 30 different rare epilepsy diagnosis groups, one-half had ≥5 comorbidity classes and 97% were classified as complex chronic disease (C-CD). The highest number of comorbidity classes reported per person were persons with Aicardi syndrome, Phelan-McDermid syndrome (median, 7.0; IQR, 5.0-9.0), and tuberous sclerosis complex (median, 6.0; IQR, 4.0-8.0). The most common comorbidity classes were learning/developmental disability (71%), mental health issues (71%), sleep disorders (60%), brain abnormalities (52%), oral issues (49%), bone-joint issues (42%), hyper/hypotonia (42%), and eye-vision disorders (38%). The prevalence of brain abnormalities, hyper/hypotonia, eye, and cardiac disorders was significantly higher in persons first diagnosed with epilepsy at a younger age (9 months) than in those first diagnosed at an older age (P .05 for trend).Nearly all persons with rare epilepsies are medically complex, with a high prevalence of multiple comorbidities, especially those who were diagnosed with epilepsy in the first year of life. Comorbidities should be carefully considered in the diagnosis and management of persons with rare epilepsies.

A survey of 146 pediatric care providers (PCPs) revealed that 75.3% were unaware that children with epilepsy were at risk of death, specifically from sudden unexpected (or unexplained) death in epilepsy (SUDEP). PCPs assume that the treating neurologist discusses these risks. Increasing PCPs' knowledge of SUDEP will help address the care gap related to informing families about SUDEP.

Genetically triggered thoracic aortic conditions (GenTACs) represent an important problem for patients and their families. Accordingly, the National Heart, Lung, and Blood Institute established the first phase of its national GenTAC Registry in 2006.Between 2007 and 2010, 6 enrolling centers established the GenTAC I Registry consisting of 2,046 patients (Marfan syndrome 576 [28.2%], bicuspid aortic valve disease 504 [24.6%], aneurysm or dissection age50 years 369 [18%], and others). Biologic samples for DNA analyses (white blood cells or saliva) are available in 97%, and stored plasma is available in 60% of enrollees.Initial scientific inquiry using the GenTAC Registry has included validation studies of genetic causes for aortic syndromes, potential usefulness of transforming growth factor beta (TGFB) blood levels in Marfan subjects, and current surgical approaches to ascending aortic conditions.The second phase of GenTAC will allow biannual follow-up of GenTAC I enrollees for up to 9 years, enrollment of an additional 1,500 subjects, further integration of imaging findings with clinical and genetic data through utilization of an imaging core laboratory, important validation of phenotype-genotype correlations through a phenotyping core laboratory, and integration of a scientific advisory committee to help define the full range and depth of the Registry's scientific capabilities. The registry resources are available to the external scientific community through an application process accessible at https://gentac.rti.org.