Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.

Dravet syndrome is an archetypal rare severe epilepsy, considered 'monogenic', typically caused by loss-of-function SCN1A variants. Despite a recognizable core phenotype, its marked phenotypic heterogeneity is incompletely explained by differences in the causal SCN1A variant or clinical factors. In 34 adults with SCN1A-related Dravet syndrome, we show additional genomic variation beyond SCN1A contributes to phenotype and its diversity, with an excess of rare variants in epilepsy-related genes as a set and examples of blended phenotypes, including one individual with an ultra-rare DEPDC5 variant and focal cortical dysplasia. The polygenic risk score for intelligence was lower, and for longevity, higher, in Dravet syndrome than in epilepsy controls. The causal, major-effect, SCN1A variant may need to act against a broadly compromised genomic background to generate the full Dravet syndrome phenotype, whilst genomic resilience may help to ameliorate the risk of premature mortality in adult Dravet syndrome survivors.

Lack of patient and primary care physician follow-up in geriatric emergency department patients with head trauma from a fall.

STUDY OBJECTIVE: Falls are the leading cause of injuries in the US for older adults. Follow-up after an ED-related fall visit is essential to initiate preventive strategies in these patients who are at very high risk for recurrent falls. It is currently unclear how frequently follow-up occurs and whether preventive strategies are implemented. Our objective is to determine the rate of follow-up by older adults who sustain a fall related head injury resulting in an ED visit, the rate and type of risk assessment and adoption of preventive strategies. METHODS: This 1-year prospective observational study was conducted at two South Florida hospitals. All older ED patients with an acute head injury due to a fall were identified. Telephone surveys were conducted 14 days after ED presentation asking about PCP follow-up and adoption of fall prevention strategies. Clinical and demographic characteristics were compared between patients with and without follow up. RESULTS: Of 4951 patients with a head injury from a fall, 1527 met inclusion criteria. 905 reported follow-up with their PCP. Of these, 72% reported receiving a fall assessment and 56% adopted a fall prevention strategy. Participants with PCP follow-up were significantly more likely to have a history of cancer or hypertension. CONCLUSION: Only 60% of ED patients with fall-related head injury follow-up with their PCP. Further, 72% received a fall assessment and only 56% adopted a fall prevention strategy. These data indicate an urgent need to promote PCP fall assessment and adoption of prevention strategies in these patients.

Sudden Decompensation of Patients Admitted to Non-ICU Settings Within 24 h of Emergency Department Admission.

BACKGROUND: Patients admitted to the hospital floor (non-intensive care (ICU) settings) from the emergency department (ED) are generally stable. Unfortunately, some will unexpectedly decompensate rapidly. This study explores these patients and their characteristics. METHODS: This retrospective, observational study examined patients admitted to non-ICU settings at a community hospital. Patients were identified by rapid response team (RRT) activation, triggered by acute decompensation. ED chief complaint, reason for activation, and vital signs were compared between patients transferred to a higher level of care versus those who were not. RESULTS: Throughout 2019, 424 episodes of acute decompensation were identified, 118 occurring within 24 h of admission. A higher rate of ICU transfers was seen in patients with initial ED chief complaints of general malaise (87.5% vs 12.5%, p = 0.023) and dyspnea (70.6% vs 29.4%, p = 0.050). Patients with sudden decompensation were more likely to need ICU transfer if the RRT reason was respiratory issues (47% vs 24%, p = 0.010) or hypertension (9.1% vs 0%, p = 0.019). Patients with syncope as a reason for decompensation were less likely to need transfer (0% vs 10.3%, p = 0.014). Patients requiring ICU transfer were significantly older (74.4 vs 71.8 years, p = 0.016). No differences in admission vital signs, APACHE score, or qSOFA score were found. CONCLUSIONS: Patients admitted to the floor with chief complaint of general malaise or dyspnea should be considered at higher risk of having a sudden decompensation requiring transfer to a higher level of care. Therefore, greater attention should be taken with disposition of these patients at the time of admission.

Comparing rates of skull fractures in female versus male geriatric patients who sustain head injuries.

BACKGROUND: Head trauma is the leading cause of serious injury in the older adult population with skull fractures as a serious reported outcome. This study aims to evaluate the role of sex in the risk of skull fracture in patients over the age of 65. METHODS: A prospective cohort study was conducted at two level-one trauma centers, serving a population of 360,000 geriatric residents. Over a year-long period, consecutive patients aged 65 years and older who presented with blunt head injury were included. Patients who did not receive head CT imaging were excluded. The primary outcome was rate of skull fracture due to the acute trauma, compared by sex. Additional factors examined included patient race/ethnicity and mechanism of injury. RESULTS: Among 5402 patients enrolled, 3010 (56%) were female and 2392 (44%) were male. 4612 (85%) of the head injuries sustained were due to falls, and 4536 (90%) of all subjects were Caucasian. Overall, 199 patients (3.7%) sustained skull fractures. Males had a significantly greater rate of skull fracture when compared to females (4.6% vs 3.0%, OR 1.5, 95% CI: 1.2-2.1, p = 0.002). This trend was also seen across race/ethnicity and mechanism of injury. CONCLUSIONS: Older males were found to have a higher rate of skull fractures compared to females after sustaining blunt head trauma, mostly due to falls.

Computed Tomography Imaging of Geriatric Patients with Uncertain Head Trauma.

BACKGROUND: Although clinical decision rules exist for patients with head injuries, no tool assesses patients with unknown trauma events. Patients with uncertain trauma may have unnecessary brain imaging. OBJECTIVE: This study evaluated risk factors and outcomes of geriatric patients with uncertain head injury. METHODS: This prospective cohort study included geriatric patients with definite or uncertain head injury presenting to two emergency departments (EDs). Patients were grouped as definite or uncertain head trauma based on history and physical examination. Outcomes were intracranial hemorrhage (ICH) on head computed tomography (CT), need for neurosurgical intervention, and mortality. Risk factors assessed included gender, alcohol use, tobacco use, history of dementia, anticoagulant use, antiplatelet use, and Glasgow Coma Scale (GCS) score < 15. RESULTS: We enrolled 2905 patients with definite head trauma and 950 with uncertain head trauma. Rates of acute ICH (10.7% vs. 1.5%; odds ratio [OR] 8.02; 95% confidence interval [CI] 4.67-13.76), delayed ICH (0.7% vs. 0.1%; OR 6.58; 95% CI 4.67-13.76), and neurosurgical intervention (1.2% vs. 0.3%; OR 3.74; 95% CI 1.15-12.20) were all higher in definite vs. uncertain head injuries. There were no differences in mortality. Patients with definite trauma had higher rates of ICH with male gender (OR 1.58; 95% CI 1.24-1.99), alcohol use (OR 1.62; 95% CI 1.25-2.09), antiplatelet use (OR 1.84; 95% CI 1.46-2.31), and GCS score < 15 (OR 3.24; 95% CI 2.54-4.13). Patients with uncertain trauma had no characteristics associated with increased ICH. CONCLUSIONS: Although ICH rates among patients with uncertain head trauma was eight times lower than those with definite head trauma, the risk of ICH is high enough to warrant CT imaging of all geriatric patients with uncertain head injury.

Epidemiological and cohort study finds no association between COVID-19 and Guillain-Barré syndrome.

Reports of Guillain-Barré syndrome (GBS) have emerged during the Coronavirus disease 2019 (COVID-19) pandemic. This epidemiological and cohort study sought to investigate any causative association between COVID-19 infection and GBS. The epidemiology of GBS cases reported to the UK National Immunoglobulin Database was studied from 2016 to 2019 and compared to cases reported during the COVID-19 pandemic. Data were stratified by hospital trust and region, with numbers of reported cases per month. UK population data for COVID-19 infection were collated from UK public health bodies. In parallel, but separately, members of the British Peripheral Nerve Society prospectively reported incident cases of GBS during the pandemic at their hospitals to a central register. The clinical features, investigation findings and outcomes of COVID-19 (definite or probable) and non-COVID-19 associated GBS cases in this cohort were compared. The incidence of GBS treated in UK hospitals from 2016 to 2019 was 1.65-1.88 per 100 000 individuals per year. GBS incidence fell between March and May 2020 compared to the same months of 2016-19. GBS and COVID-19 incidences during the pandemic also varied between regions and did not correlate with one another (r = 0.06, 95% confidence interval: -0.56 to 0.63, P = 0.86). In the independent cohort study, 47 GBS cases were reported (COVID-19 status: 13 definite, 12 probable, 22 non-COVID-19). There were no significant differences in the pattern of weakness, time to nadir, neurophysiology, CSF findings or outcome between these groups. Intubation was more frequent in the COVID-19 affected cohort (7/13, 54% versus 5/22, 23% in COVID-19-negative) attributed to COVID-19 pulmonary involvement. Although it is not possible to entirely rule out the possibility of a link, this study finds no epidemiological or phenotypic clues of SARS-CoV-2 being causative of GBS. GBS incidence has fallen during the pandemic, which may be the influence of lockdown measures reducing transmission of GBS inducing pathogens such as Campylobacter jejuni and respiratory viruses.

Age adjusted D-dimer cutoffs for pulmonary embolism in a geriatric population utilizing a D-dimer unit assay.

BACKGROUND: Age adjusted serum d-dimer (AADD) with clinical decision rules have been utilized to rule out pulmonary embolism (PE) in low-risk patients; however, its use in the geriatric population has been questioned and the use of d-dimer unit (DDU) assay is uncommon. OBJECTIVE: The present study aims to compare the test characteristics of the AADD (age × 5) measured in DDU with the standard cutoff (DDU < 250) and study hospital laboratory's d-dimer cutoff (DDU < 600) in geriatric patients presenting with suspected PE. METHODS: This retrospective study enrolled patients ≥65 years old with suspected PE and d-dimer performed between January 1, 2019 and December 31, 2019 who presented to the emergency department (ED). Charts were reviewed for CTA chest and ventilation perfusion imaging results for PE. Diagnostic parameters for each cutoff were calculated for the primary outcome. RESULTS: 510 patients were included, 20 with PE. There was no significant difference between the sensitivities of AADD (100%, 95% CI: 80-100), standard cutoff (100%, 95% CI: 80-100), and hospital cutoff (90%, 95% CI: 66.9-98.2). The hospital cutoff specificity (22.7%, 95% CI: 17.1-29.3) was significantly greater than the AADD (13.4%, 95% CI: 9.1-19.2) and standard cutoff (10.8%, 95% CI: 7.0-16.3) specificities. CONCLUSIONS: In geriatric patients presenting to the ED with suspected PE, the AADD measured in DDUs maintained sensitivity with improved specificity compared to standard cutoff. In this population, the AADD would have safely reduced imaging by 19% without missing any PEs. AADD remains a valid tool with high sensitivity and negative predictive value in ruling out PE in geriatric patients.

Time from hospital presentation to head imaging in White, Black, and Hispanic geriatric trauma patients.

BACKGROUND: Health care disparities have been shown to negatively affect non-White people sustaining traumas, leading to increased morbidity and mortality. One possible explanation could be delays in emergent medical care. This study aims to assess if a disparity between races exists amongst acutely head-injured geriatric patients, as evidenced by the time it takes from emergency department (ED) presentation to performance of head computerized tomography (CT) imaging. METHODS: A prospective cohort study was conducted from August 15, 2019 to August 14, 2020 at the two trauma centers in a south Florida county covering 1.5 million residents. Patients aged ≥ 65 years who sustained a head injury were identified daily. Patients who had a head injury >24 h prior, sustained penetrating trauma, or were transferred from another hospital were excluded. The primary outcome was time measured between ED presentation and CT head performance. Patients were grouped by race as selected from White, Black, Hispanic, and other. Comparisons were made using ANOVA analysis. RESULTS: 4878 patients were included. 90% were White. The mean times to CT head were 90.3 min for White patients, 98.1 min for Black patients, and 86.6 min for Hispanic patients. There was a significant difference comparing time to CT between the three groups (F = 2.892, p = 0.034). Comparing each group to a combined others, there were no significant differences for White vs non-White (90.3 vs 91.3, F = 0.154, p = 0.695) or Hispanic vs non-Hispanic (86.6 vs 90.5, F = 0.918, p = 0.338); however Black vs non-Black (98.1 vs 89.9, F = 4.828, p = 0.028) was significant. CONCLUSIONS: Geriatric Black patients who sustained head trauma were found to have a longer time from ED presentation to performance of head CT than their non-Black counterparts.

Pelvic Exam Laws in the United States: A Systematic Review.

Laws regulating patient care are an essential component of protecting patients and doctors alike. No studies have previously examined what laws exist regarding pelvic examinations in the United States (US). This study systematically reviews and compares regulation and legislation of pelvic examinations in the U.S. and provides a comprehensive resource to educate clinicians, patients, and lawmakers. Each of the fifty States in the U.S. was included. The primary outcome was existence of any pelvic or rectal exam laws. Data was obtained for the type of examination defined within the law, exceptions to the law, to whom the law applied to, the type of consent required, and to whom the consent applied to. Laws were identified from each of the individual state legislative websites. All sections of each law pertaining to pelvic examination were reviewed and organized by state. Descriptive statistics were performed for each of the variables, including frequencies of each amongst the fifty states. State regulation for pelvic examinations varied from no law or regulation to laws pertaining to pelvic, rectal, prostate, and breast examination performed in any context. As of November 22, 2022, there are twenty states (40%) with pelvic examination laws applying to anesthetized or unconscious patients. Thirteen additional states (26%) have proposed pelvic exam laws. Seventeen states (34%) do not have any laws regarding pelvic examinations. Regulation of pelvic examinations has become an increasingly important issue over the past few years in response to growing concerns of patient autonomy and the ethical issues raised by such sensitive examinations. While pelvic examination laws that balance protection for patient autonomy and the needs of caregivers and educators exist in much of the U.S., more work needs to continue in consultation with physicians and health care providers to ensure that all states have reasonable laws protecting the autonomy of patients while also maintaining quality of care.

The impact of SARS-CoV-2 vaccination in Dravet syndrome: A UK survey.

BACKGROUND: The COVID-19 pandemic led to the urgent need for accelerated vaccine development. Approved vaccines have proved to be safe and well tolerated across millions of people in the general population. Dravet syndrome (DS) is a severe, early onset, developmental and epileptic encephalopathy. Vaccination is a precipitating factor for seizures. While there is no evidence that vaccine-precipitated seizures lead to adverse outcomes in people with DS, fear surrounding vaccination can remain for caregivers of people with DS, in some cases resulting in rejection of recommended vaccinations, leaving individuals more vulnerable to the relevant infections. A greater understanding of the safety profile of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccination in this vulnerable group will help provide guidance for caregivers and clinicians when considering vaccination. METHODS: A cross-sectional survey regarding COVID-19 and SARS-CoV-2 vaccine, in people with DS, was conducted by Dravet Syndrome UK (DSUK). Concomitantly, a review of individuals with DS who had recently received the SARS-CoV-2 vaccine, and who are resident at the Chalfont Centre for Epilepsy (CCE), or attend epilepsy clinics at the National Hospital for Neurology and Neurosurgery (NHNN), was undertaken. RESULTS: Thirty-eight people completed the DSUK survey. Thirty-seven percent of caregivers reported being concerned about someone with DS receiving the SARS-CoV-2 vaccine; with some reporting that they would decline a vaccine when offered. Seventy-seven percent had not received any advice from a healthcare professional about the SARS-CoV-2 vaccination. 18/38 were eligible for SARS-CoV-2 vaccination, of whom nine had received their first vaccine dose. Combining the results of the DSUK survey and the review of individuals monitored at CCE or NHNN, fifteen people with DS had received their first dose of the SARS-CoV-2 vaccine. 11/15 (73%) reported at least one side effect, the most common being fatigue (6/15; 40%) and fever (6/15; 40%). Three individuals (20%) reported an increase in seizure frequency after the first vaccine dose. No increase in seizure frequency or duration was reported after the second dose. CONCLUSION: Overall, these results suggest that SARS-CoV-2 vaccines are safe and well tolerated in individuals with DS, as they are in most people without DS. In most people with DS, SARS-CoV-2 vaccine does not appear to be associated with an increase in the frequency or duration of seizures, even in those who develop fever post-vaccination. Many caregivers are concerned about a person with DS receiving a SARS-CoV-2 vaccine, with some reporting that they would decline a SARS-CoV-2 vaccine when offered. It is crucial that healthcare professionals are proactive in providing accurate information regarding the risks and benefits of vaccination in this population, given the potential for serious outcomes from infection.

Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare neurodegenerative disorder caused by mutations in the SACS gene. Thickened retinal nerve fibres visible on fundoscopy have previously been described in these patients; however, thickening of the retinal nerve fibre layer as demonstrated by optical coherence tomography appears to be a more sensitive and specific feature. To test this observation, we assessed 292 individuals (191 patients with ataxia and 101 control subjects) by peripapillary time-domain optical coherence tomography. The patients included 146 with a genetic diagnosis of ataxia (17 autosomal spastic ataxia of Charlevoix-Saguenay, 59 Friedreich's ataxia, 53 spinocerebellar ataxias, 17 other genetically confirmed ataxias) and 45 with cerebellar ataxia of unknown cause. The controls included 13 asymptomatic heterozygotes for SACS mutations and 88 unaffected controls. The cases with autosomal recessive spastic ataxia of Charlevoix-Saguenay included 11 previously unpublished SACS mutations, of which seven were nonsense and four missense mutations. Most patients were visually asymptomatic and had no previous history of ophthalmic complaints and normal or near normal visual test results. None had visual symptoms directly attributable to the retinal changes. Twelve of the 17 cases (70.6%) had thickened retinal nerve fibres visible on fundoscopy. All patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay had thickening of the peripapillary retinal nerve fibre layer on optical coherence tomography, whereas all the remaining cases and controls except one showed normal or reduced average peripapillary retinal nerve fibre layer thickness on optical coherence tomography. We propose a cut-off value of 119 µm in average peripapillary retinal nerve fibre layer thickness, which provides a sensitivity of 100% and specificity of 99.4% amongst patients affected with ataxia. This is the largest cohort of patients with this condition to undergo systematic evaluation by optical coherence tomography. This is a useful tool in identifying cases of autosomal recessive spastic ataxia of Charlevoix-Saguenay from other causes of ataxia. Visualization of thickened retinal fibres by direct fundoscopy is less sensitive. We therefore advocate the use of this technique in the assessment of possible cases of this condition.

Intubation of prehospital patients with curved laryngoscope blade is more successful than with straight blade.

OBJECTIVE: Direct laryngoscopy can be performed using curved or straight blades, and providers usually choose the blade they are most comfortable with. However, curved blades are anecdotally thought of as easier to use than straight blades. We seek to compare intubation success rates of paramedics using curved versus straight blades. METHODS: Design: retrospective chart review. SETTING: hospital-based suburban ALS service with 20,000 annual calls. SUBJECTS: prehospital patients with any direct laryngoscopy intubation attempt over almost 9years. First attempt and overall success rates were calculated for attempts with curved and straight blades. Differences between the groups were calculated. RESULTS: 2299 patients were intubated by direct laryngoscopy. 1865 had attempts with a curved blade, 367 had attempts with a straight blade, and 67 had attempts with both. Baseline characteristics were similar between groups. First attempt success was 86% with a curved blade and 73% with a straight blade: a difference of 13% (95% CI: 9-17). Overall success was 96% with a curved blade and 81% with a straight blade: a difference of 15% (95% CI: 12-18). There was an average of 1.11 intubation attempts per patient with a curved blade and 1.13 attempts per patient with a straight blade (2% difference, 95% CI: -3-7). CONCLUSIONS: Our study found a significant difference in intubation success rates between laryngoscope blade types. Curved blades had higher first attempt and overall success rates when compared to straight blades. Paramedics should consider selecting a curved blade as their tool of choice to potentially improve intubation success.

Repeat acute abdomen and hemoperitoneum during the same pregnancy due to a ruptured ectopic treated by salpingostomy.

A leading cause of maternal mortality in the first trimester is hemorrhage due to a ruptured ectopic pregnancy. With the advent of tube salvage surgery, ectopic pregnancies can be removed while ensuring hemostasis and preserving the integrity of the fallopian tube. A major drawback of tube salvage surgery is the significant risk of persistent trophoblastic tissue being left behind. We report a case of a 30year old female who presented to the ED with acute abdomen and hemoperitoneum due to a ruptured ectopic pregnancy. She was treated with salpingostomy and the pathologic report confirmed removal of the ectopic pregnancy. After an initially uneventful post-operative recovery, she presented to the ED 27days later with signs of acute abdomen and hemoperitoneum. Surgical intervention confirmed a ruptured ectopic pregnancy in the same site as previous, and salpingectomy was performed, after which the patient recovered without complications. The increased risk of persistent trophoblastic tissue associated with tube salvage surgery can lead to subsequent reoperation for tubal rupture. Patients undergoing these procedures should be closely monitored in the following weeks and undergo serial ß-hCG testing in order to confirm successful removal of the ectopic.

Standardized Physician-Administered Patient-Centered Discharge Protocol Improves Patients' Comprehension.

OBJECTIVES: Patients are 30% less likely to be readmitted or visit the emergency department if they have a clear understanding of their discharge instructions. A standardized approach to a hospital discharge plan has not been universally implemented, however. Our goal was to increase patients' comprehension of discharge instructions by implementing a standardized patient-centered discharge planning protocol that uses a physician team member to explain these plans. METHODS: This was a prospective study that included all of the patients discharged from an inpatient medical teaching service in a community-based hospital during the study period. We used two 4-week periods separated by 4 months in which training and practice with the study intervention took place. Patients' understanding of discharge instructions was assessed via a follow-up telephone call from a physician co-investigator within 1 week of each patient's discharge. Differences in patients' understanding between groups were analyzed. RESULTS: A total of 181 patients were enrolled, with 9 lost to follow-up. After implementation of the discharge planning protocol, a statistically significant improvement in patients' understanding was found in study subjects' knowledge of their diagnosis, the adverse effects of their medications, whom to call after discharge, and follow-up appointments. CONCLUSIONS: Institution of a standardized patient-centered discharge planning protocol can improve patients' understanding of several key components of their discharge process, which may lead to improved compliance with instructions and outcomes.

Retinal nerve fibre layer thinning is associated with drug resistance in epilepsy.

OBJECTIVE: Retinal nerve fibre layer (RNFL) thickness is related to the axonal anterior visual pathway and is considered a marker of overall white matter 'integrity'. We hypothesised that RNFL changes would occur in people with epilepsy, independently of vigabatrin exposure, and be related to clinical characteristics of epilepsy. METHODS: Three hundred people with epilepsy attending specialist clinics and 90 healthy controls were included in this cross-sectional cohort study. RNFL imaging was performed using spectral-domain optical coherence tomography (OCT). Drug resistance was defined as failure of adequate trials of two antiepileptic drugs to achieve sustained seizure freedom. RESULTS: The average RNFL thickness and the thickness of each of the 90° quadrants were significantly thinner in people with epilepsy than healthy controls (p<0.001, t test). In a multivariate logistic regression model, drug resistance was the only significant predictor of abnormal RNFL thinning (OR=2.09, 95% CI 1.09 to 4.01, p=0.03). Duration of epilepsy (coefficient -0.16, p=0.004) and presence of intellectual disability (coefficient -4.0, p=0.044) also showed a significant relationship with RNFL thinning in a multivariate linear regression model. CONCLUSIONS: Our results suggest that people with epilepsy with no previous exposure to vigabatrin have a significantly thinner RNFL than healthy participants. Drug resistance emerged as a significant independent predictor of RNFL borderline attenuation or abnormal thinning in a logistic regression model. As this is easily assessed by OCT, RNFL thickness might be used to better understand the mechanisms underlying drug resistance, and possibly severity. Longitudinal studies are needed to confirm our findings.

Feeding Difficulties and Gastrostomy in Dravet Syndrome: A UK-Wide Survey and 2-Center Experience.

Background and Objectives: Dravet syndrome (DS) is one of the most common monogenic epilepsies. Alongside the core seizure and developmental phenotypes, problems with appetite, swallowing, and weight loss are frequently reported, necessitating gastrostomy in some. We explored the burden of feeding difficulties and need for gastrostomy across 3 DS populations in the United Kingdom. We document caregiver opinion and postgastrostomy outcomes, and provide guidance regarding feeding issues and gastrostomy in DS. Methods: A retrospective, observational study was conducted; data were collected from medical records of 124 individuals with DS attending clinics at the National Hospital for Neurology and Neurosurgery, and Great Ormond Street Hospital, and from 65 DS caregiver responses to a UK-wide survey. Results: In total, 64 of 124 (52%) had at least 1 feeding difficulty; 21 of 124 (17%) had a gastrostomy, and gastrostomy was being considered in 5%; the most common reasons for gastrostomy were poor appetite (81%) and weight loss/failure to gain weight (71%). Median age at gastrostomy was 17 years (range 2.5-59). Multivariate analyses identified several factors that in combination contributed to risk of feeding difficulties and gastrostomy, including treatment with several antiseizure medications (ASMs), of which stiripentol made a unique contribution to risk of gastrostomy (p = 0.048, odds ratio 3.20, 95% CI 1.01-10.16). Preinsertion, 88% of caregivers were worried about the gastrostomy, with concerns across a range of issues. Postgastrostomy, 88% of caregivers were happy that their child had the gastrostomy, and >90% agreed that the gastrostomy ensured medication compliance, that their child's overall health was better, and that quality of life improved. Discussion: Feeding difficulties are common in DS, and 17% require a gastrostomy to address these. Risk factors for feeding difficulties in DS are unknown, but ASMs may play a role. There is a high level of caregiver concern regarding gastrostomy preprocedure; however, postgastrostomy caregiver opinion is positive. Feeding difficulties should be proactively sought during review of people with DS, and the potential need for gastrostomy should be discussed.

The Florida Geriatric Head Trauma CT Clinical Decision Rule.

BACKGROUND: Several clinical decision rules have been devised to guide head computed tomography (CT) use in patients with minor head injuries, but none have been validated in patients 65 years or older. We aimed to derive and validate a head injury clinical decision rule for older adults. METHODS: We conducted a secondary analysis of an existing dataset of consecutive emergency department (ED) patients >65 years old with blunt head trauma. The main predictive outcomes were significant intracranial injury and Need for Neurosurgical Intervention on CT. The secondary outcomes also considered in the model development and validation were All Injuries and All Intracranial Injuries. Predictor variables were identified using multiple variable logistic regression, and clinical decision rule models were developed in a split-sample derivation cohort and then tested in an independent validation cohort. RESULTS: Of 5776 patients, 233 (4.0%) had significant intracranial injury and an additional 104 (1.8%) met CT criteria for Need for Neurosurgical Intervention. The best performing model, the Florida Geriatric Head Trauma CT Clinical Decision Rule, assigns points based on several clinical variables. If the points totaled 25 or more, a CT scan is indicated. The included predictors were arrival via Emergency Medical Services (+30 points), Glasgow Coma Scale (GCS) <15 (+20 points), GCS <14 (+50 points), antiplatelet medications (+17 points), loss of consciousness (+16 points), signs of basilar skull fracture (+50 points), and headache (+20 points). Utilizing this clinical decision rule in the validation cohort, a point total ≥25 had a sensitivity and specificity of 100.0% (95% CI: 96.0-100) and 12.3% (95% CI: 10.9-13.8), respectively, for significant intracranial injury and Need for Neurosurgical Intervention. CONCLUSIONS: The Florida Geriatric Head Trauma CT Clinical Decision Rule has the potential to reduce unnecessary CT scans in older adults, without compromising safe emergency medicine practice.

COVID-19 response in a long-term care facility for people with epilepsy.

OBJECTIVE: To assess asymptomatic rates and severity of SARS-CoV-2 infection in people with epilepsy and their healthcare workers in a long-term care facility which had implemented weekly surveillance testing between April 2020 and June 2022. METHODS: Questionnaires focused on objective and subjective COVID-19 symptoms for people with epilepsy residing in and their healthcare workers at the Chalfont Centre for Epilepsy in June 2022. Demographic information, comorbidities, and seizure frequency were gathered from medical records. We also collected responses on objective and subjective COVID-19 symptoms from healthcare workers who participated in a prospective study assessing the reaction to COVID-19 vaccinations (SAFER). RESULTS: Fifty-five out of 89 (62%) residents tested positive at least once on weekly PCR testing for SARS-CoV-2 during the period of interest; 20 of those (37%) were asymptomatic. In comparison, of those 63 healthcare workers who tested positive at least once on weekly testing during the same period, only four (6%) were asymptomatic. Of the 159 healthcare workers who also participated in the SAFER study, 41 tested positive at least once, and seven (17%) were completely asymptomatic during infection with SARS-CoV-2. SIGNIFICANCE: People with epilepsy living in a long-term care facility were more likely to present with asymptomatic SARS-CoV-2 infections than healthcare workers at the same facility. Despite possible bias in the reporting of subjective symptoms due to management-by-proxy, there is no evidence that vulnerable people living in an epilepsy long-term care facility showed reduced resilience towards infections. PLAIN LANGUAGE SUMMARY: People with epilepsy living in care home facilities had a surprisingly high degree of asymptomatic infections with SARS-CoV-2. Very few residents had severe or fatal outcomes. This is in stark contrast to the widely reported bad outcomes for people without epilepsy in other care homes. People with epilepsy reported significantly less symptoms than their healthcare workers. No changes in seizure frequency during or after infection were observed.