Faculty Bibliography
Searched for:
school:SOM
Department/Unit:Neurology
Total Results:
23248
Measuring long-term psychiatric outcomes in post-acute autoimmune encephalitis
PURPOSE/OBJECTIVE:To compare the performance of different measures of long-term psychiatric outcomes in patients with post-acute autoimmune encephalitis (AE) who may require comprehensive psychiatric evaluation. METHODS:The sensitivity of three self-reported measures of mood and anxiety symptoms (Patient Health Questionnaire [PHQ-9]; Profiles of Mood States-2 [POMS-2]; Generalized Anxiety Disorder 7-item [GAD7]) was compared with a structured clinician-administered tool (Mini Neuropsychiatric Inventory 7.0.2 [MINI 7.0.2]). New cutoff scores that optimized accuracy were then identified by Youden Index Method. RESULTS:Thirty-five patients with post-acute AE completed testing a median of 3 years after symptomatic onset (range = 1-22 years). The median PHQ9 score was 5 (range = 0-18), median POMS2 Total Mood Disturbance T-Score was 52 (range = 37-93), and median GAD7 score was 3 (range = 0-17). Twenty-five patients (71 %) met criteria for a psychiatric diagnosis on the MINI. When compared with the MINI, the sensitivity and specificity of the self-reported psychiatric symptom tools using standard cutoffs were 25 % and 80 % for the PHQ9, 50 % and 87 % for the POMS-2, 23 % and 91 % for the GAD7. Accuracy was improved when cutoffs of ≥5 for the PHQ9, ≥50 for the POMS2, and ≥ 3 for the GAD7 were used, at the cost of lower specificity. CONCLUSIONS:Patients with post-acute AE with psychiatric sequalae may be underrecognized if self-reported measures of psychiatric symptoms are used instead of clinician-administered structured interviews. If self-reported measures are used in AE, consideration should be given into using tools with higher validity in this patient population, such as the POMS-2.
PMID: 40730287
ISSN: 1573-2517
CID: 5903332
Risk of neuropsychiatric and related conditions associated with SARS-CoV-2 infection: a difference-in-differences analysis
The COVID-19 pandemic has been associated with increased neuropsychiatric conditions in children and youths, with evidence suggesting that SARS-CoV-2 infection may contribute additional risks beyond pandemic stressors. This study aims to assess the full spectrum of neuropsychiatric conditions in COVID-19 positive children (ages 5-12) and youths (ages 12-20) compared to a matched COVID-19 negative cohort, accounting for factors influencing infection risk. Using EHR data from 25 institutions in the RECOVER program, we conduct a retrospective analysis of 326,074 COVID-19 positive and 887,314 negative participants matched for risk factors and stratified by age. Neuropsychiatric outcomes are examined 28 to 179 days post-infection or negative test between March 2020 and December 2022. SARS-CoV-2 positivity is confirmed via PCR, serology, or antigen tests, while negativity requires negative test results and no related diagnoses. Risk differences reveal higher frequencies of neuropsychiatric conditions in the COVID-19 positive cohort. Children face increased risks for anxiety, OCD, ADHD, autism, and other conditions, while youths exhibit elevated risks for anxiety, suicidality, depression, and related symptoms. These findings highlight SARS-CoV-2 infection as a potential contributor to neuropsychiatric risks, emphasizing the importance of research into tailored treatments and preventive strategies for affected individuals.
PMID: 40707478
ISSN: 2041-1723
CID: 5901892
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society. 2025.DOI: 10.1097/WNO.0000000000002364
Causes of Diplopia, Strabismus Patterns, and Ocular Motor Features in Patients With Spinocerebellar Ataxia Type 27B
BACKGROUND:Spinocerebellar ataxia type 27 B (SCA27B) caused by GAA trinucleotide repeats in the fibroblast growth factor 14 gene is emerging as a common cause of late-onset ataxia. Oscillopsia due to downbeat nystagmus (DBN) and diplopia are common symptoms, yet the causes of diplopia and strabismus patterns are poorly defined. METHODS:Retrospective chart review of 18 patients diagnosed with SCA27B over the past year. RESULTS:Ten of 18 patients had episodic or persistent oscillopsia or diplopia at disease onset, neurologically isolated in 4. Seventeen had detectable DBN, although it was often delayed in onset and was clinically obvious in only 5. Diplopia was present in 14 patients: vertical due to skew deviation (static and or alternating on lateral gaze) (n = 8) and/or horizontal due to vergence dysfunction (n = 11). Symptomatic vergence dysfunction included convergence insufficiency (CI) (n = 4) and divergence insufficiency (n = 5). Thirteen of 16 patients experienced improvement in oscillopsia or imbalance on 4-aminopyridine (4-AP). CONCLUSIONS:Strabismus patterns causing diplopia in patients with SCA27B are, not unexpectedly, largely attributable to cerebellar dysfunction and are not unique to SCA27B. The exceptions to cerebellar localization were CI, sixth nerve palsy, and slow saccades. Careful assessment for DBN in patients presenting with episodic or persistent diplopia from skew deviation or vergence disorders is important, as this may be key to confirming a cerebellar localization, subtle on examination, and guide toward genetic testing and 4-AP treatment.
PMID: 40693779
ISSN: 1536-5166
CID: 5901412
Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies known and novel cross-population and ancestry-specific associations as novel risk loci for Alzheimer's disease
BACKGROUND:Limited ancestral diversity has impaired our ability to detect risk variants more prevalent in ancestry groups of predominantly non-European ancestral background in genome-wide association studies (GWAS). We construct and analyze a multi-ancestry GWAS dataset in the Alzheimer's Disease Genetics Consortium (ADGC) to test for novel shared and population-specific late-onset Alzheimer's disease (LOAD) susceptibility loci and evaluate underlying genetic architecture in 37,382 non-Hispanic White (NHW), 6728 African American, 8899 Hispanic (HIS), and 3232 East Asian individuals, performing within ancestry fixed-effects meta-analysis followed by a cross-ancestry random-effects meta-analysis. RESULTS:We identify 13 loci with cross-population associations including known loci at/near CR1, BIN1, TREM2, CD2AP, PTK2B, CLU, SHARPIN, MS4A6A, PICALM, ABCA7, APOE, and two novel loci not previously reported at 11p12 (LRRC4C) and 12q24.13 (LHX5-AS1). We additionally identify three population-specific loci with genome-wide significance at/near PTPRK and GRB14 in HIS and KIAA0825 in NHW. Pathway analysis implicates multiple amyloid regulation pathways and the classical complement pathway. Genes at/near our novel loci have known roles in neuronal development (LRRC4C, LHX5-AS1, and PTPRK) and insulin receptor activity regulation (GRB14). CONCLUSIONS:Using cross-population GWAS meta-analyses, we identify novel LOAD susceptibility loci in/near LRRC4C and LHX5-AS1, both with known roles in neuronal development, as well as several novel population-unique loci. Reflecting the power of diverse ancestry in GWAS, we detect the SHARPIN locus with only 13.7% of the sample size of the NHW GWAS study (n = 409,589) in which this locus was first observed. Continued expansion into larger multi-ancestry studies will provide even more power for further elucidating the genomics of late-onset Alzheimer's disease.
PMCID:12273372
PMID: 40676597
ISSN: 1474-760x
CID: 5897492
Efficacy and safety of preoperative embolization in surgical treatment of brain arteriovenous malformations: a multicentre study with propensity score matching
BACKGROUND:Brain arteriovenous malformations (AVMs) are abnormal connections between feeding arteries and draining veins, associated with significant risks of haemorrhage, seizures and other neurological deficits. Preoperative embolization is commonly used as an adjunct to microsurgical resection, with the aim of reducing intraoperative complications and improving outcomes. However, the efficacy and safety of this approach remain controversial. METHODS:This study is a subanalysis of the Multicenter International Study for Treatment of Brain AVMs consortium. We retrospectively analysed 486 patients with brain AVMs treated with microsurgical resection between January 2010 and December 2023. Patients were divided into two groups: those who underwent microsurgery alone (n=245) and those who received preoperative embolization, followed by microsurgery (n=241). Propensity score matching was employed, resulting in 288 matched patients (144 in each group). The primary outcomes were rates of complete AVM obliteration and functional outcomes (measured by the modified Rankin Scale (mRS)). Secondary outcomes included complication rates, mortality, hospital length of stay and postsurgical rupture. RESULTS:After matching, the complete obliteration rate was 97% with no significant difference between the microsurgery-only group and the preoperative embolization group (p=0.12). The proportion of patients with an mRS score of 0-2 at the last follow-up was similar in both groups (83% vs 84%; p=0.67). The median hospital stay was significantly longer for the embolisation group (9 days vs 7 days; p=0.017). Complication rates (24% vs 22%; p=0.57) and mortality rates (4.9% vs 2.1%; p=0.20) were comparable between the two groups. No significant differences were observed in postsurgical rupture, recurrence or retreatment rates. CONCLUSIONS:In this large multicentre study, preoperative embolization did not significantly improve AVM obliteration rates, functional outcomes or reduce complications compared with microsurgery alone.
PMID: 39915091
ISSN: 1468-330x
CID: 5784312
Neuroanatomy of the vertebrobasilar perforators: implications for aneurysm treatment
The anatomy of vertebrobasilar perforators has been widely studied in human cadavers, with most reports found in the neurosurgical literature. These arterial perforators are extremely hard to visualize consistently with traditional two-dimensional digital subtraction angiography, but are reliably visible with cross sectional cone beam CT techniques. A clear understanding of this specific neurovascular anatomy and pathology is essential for informed treatment decisions. This review analyzes the anatomy of vertebrobasilar perforators with a focus on practical implications for aneurysm treatment, particularly flow diversion.
PMID: 39488337
ISSN: 1759-8486
CID: 5747422
Femoral versus radial access for middle meningeal artery embolization for chronic subdural hematomas: multicenter propensity score matched study
BACKGROUND:With transradial access (TRA) being more progressively used in neuroendovascular procedures, we compared TRA with transfemoral access (TFA) in middle meningeal artery embolization (MMAE) for chronic subdural hematoma (cSDH). METHODS:Consecutive patients undergoing MMAE for cSDH at 14 North American centers (2018-23) were included. TRA and TFA groups were compared using propensity score matching (PSM) controlling for: age, sex, concurrent surgery, previous surgery, hematoma thickness and side, midline shift, and pretreatment antithrombotics. The primary outcome was access site and overall complications, and procedure duration; secondary endpoints were surgical rescue, radiographic improvement, and technical success and length of stay. RESULTS:872 patients (median age 73 years, 72.9% men) underwent 1070 MMAE procedures (54% TFA vs 46% TRA). Access site hematoma occurred in three TFA cases (0.5%; none required operative intervention) versus 0% in TRA (P=0.23), and radial-to-femoral conversion occurred in 1% of TRA cases. TRA was more used in right sided cSDH (58.4% vs 44.8%; P<0.001). Particle embolics were significantly higher in TFA while Onyx was higher in TRA (P<0.001). Following PSM, 150 matched pairs were generated. Particles were more utilized in the TFA group (53% vs 29.7%) and Onyx was more utilized in the TRA group (56.1% vs 31.5%) (P=0.001). Procedural duration was longer in the TRA group (median 68.5 min (IQR 43.1-95) vs 59 (42-84); P=0.038), and radiographic success was higher in the TFA group (87.3% vs 77.4%; P=0.036). No differences were noted in surgical rescue (8.4% vs 10.1%, P=0.35) or technical failures (2.4% vs 2%; P=0.67) between TFA and TRA. Sensitivity analysis in the standalone MMAE retained all associations but differences in procedural duration. CONCLUSIONS:In this study, TRA offered comparable outcomes to TFA in MMAE for cSDH in terms of access related and overall complications, technical feasibility, and functional outcomes. Procedural duration was slightly longer in the TRA group, and radiographic success was higher in the TFA group, with no differences in surgical rescue rates.
PMID: 38991734
ISSN: 1759-8486
CID: 5699122
Association between concussion-reporting intention and reporting behavior in a simulated game setting
BACKGROUND:Efforts to assess concussion-reporting efficacy face logistical challenges relying on behavioral intentions. Self-report surveys often lack correlation with actual behavior. Simulated in-game behavioral observation may offer a better evaluation method when data on actual behavior are not feasibly collected. OBJECTIVE:To examine the association between concussion-reporting intentions and concussion-reporting behavior in a novel simulated in-game experience. DESIGN/METHODS:This study was performed as a secondary analysis of a larger study that assessed the efficacy of concussion education in concussion-reporting intention among high school athletes. High school football players (n = 313) from seven Colorado high schools completed reporting intention questionnaires. Athletes were randomized to either receive standard concussion education from the Centers for Disease Control and Prevention (n = 167) or not (n = 146). Subsequently, all participants were given a baseline assessment in which they were asked to assess concussion-reporting intention. To test concussion-reporting behavior, all participants watched a novel first-person, 2-minute video in which a simulated concussion occurred. When the simulated concussion occurs, participants are then asked whether they would like to seek evaluation or continue playing. Logistic regression assessed the relationship between concussion-reporting intention and concussion-reporting behavior during the simulated game experience. RESULTS:Athletes who reported their concussion in the simulated game had higher baseline concussion-reporting intention (U = 8669.5, p < .001). Across both the educated and noneducated groups, each one-point increase in baseline reporting intention was associated with 1.99× (95% confidence interval [CI]: 1.11-3.60, p = .02) and 1.53× (95% CI: 1.07-2.30, p = .026) increased odds of reporting the simulated concussion, respectively. CONCLUSIONS:Concussion-reporting behavior in a novel, first-person simulated in-game experience is higher among individuals with higher baseline concussion-reporting intention. This approach may offer promise for evaluating concussion-reporting intention and concussion-reporting behavior via interactive video simulation.
PMID: 40641417
ISSN: 1934-1563
CID: 5891172
SUDEP risk is influenced by longevity genomics: a polygenic risk score study
BACKGROUND:Sudden Unexpected Death in Epilepsy (SUDEP) is a rare and tragic outcome in epilepsy, identified by those with the condition as their most serious concern. Although several clinical factors are associated with elevated SUDEP risk, mechanisms underlying SUDEP are poorly understood, making individual risk prediction challenging, especially early in the disease course. We hypothesised that common genetic variation contributes to SUDEP risk. METHODS:Genetic data from people who had succumbed to SUDEP was compared to data from people with epilepsy who had not succumbed to SUDEP and from healthy controls. Polygenic risk scores (PRSs) for longevity, intelligence and epilepsy were compared across cohorts. Reactome pathways and gene ontology terms implicated by the contributing single nucleotide polymorphisms (SNPs) were explored. In the subset of SUDEP cases with the necessary data available, a risk score was calculated using an existing risk prediction tool (SUDEP-3); the added value to this prediction of SNP-based genomic information was evaluated. FINDINGS/RESULTS:Only European-ancestry participants were included. 161 SUDEP cases were compared to 768 cases with epilepsy and 1153 healthy controls. PRS for longevity was significantly reduced in SUDEP cases compared to disease (P = 0·0096) and healthy controls (P = 0·0016), as was PRS for intelligence (SUDEP cases compared to disease (P = 0·0073) and healthy controls (P = 0·00024)). The PRS for epilepsy did not differ between SUDEP cases and disease controls (P = 0·76). SNP-determined pathway and gene ontology analysis highlighted those related to inter-neuronal communication as amongst the most enriched in SUDEP. Addition of PRS for longevity and intelligence to SUDEP-3 scores improved risk prediction in a subset of cases (38) and controls (703), raising the area-under-the-curve in a receiver-operator characteristic from 0·699 using SUDEP-3 alone to 0·913 when PRSs were added. INTERPRETATION/CONCLUSIONS:Common genetic variation contributes to SUDEP risk, offering new approaches to improve risk prediction and to understand underlying mechanisms. FUNDING/BACKGROUND:The Amelia Roberts Fund; CURE Epilepsy; Epilepsy Society, UK; Finding A Cure for Epilepsy and Seizures (FACES).
PMID: 40731221
ISSN: 2352-3964
CID: 5903342
The Silk Vista Baby Study: A Multicenter Aneurysm Report From North America and Europe
BACKGROUND AND OBJECTIVES/OBJECTIVE:The Silk Vista Baby (SVB) flow diverter (FD) stent (Balt SAS) is the first device designed for treating distally located brain aneurysms. It can be delivered through a 0.017-inch ID microcatheter, enabling access to small, distal vessels. The aim of this study was to evaluate the effectiveness, safety, technical success, occlusion rate, and clinical outcomes of the SVB device. METHODS:This retrospective, multicenter study included data from 18 centers from November 2023 to September 2024. Procedures were performed by experienced neurointerventionalists following institutional standards of care. Outcomes analyzed included effectiveness, safety, and aneurysm occlusion rates. Descriptive analyses and Pearson χ2 or Independent t-Test were used for statistical evaluation. RESULTS:A total of 95 patients, mean age 55.4 years, were included. A total of 31% of aneurysms were ruptured at admission. Most (58.3%) were located in the anterior circulation, and 45% had previous treatment, mainly coiling (69.4%). Complication rates were higher for ruptured aneurysms (24.1%) compared with unruptured ones (9.2%). Two deaths occurred, 1 (1.1%) related to the procedure. At discharge, 87% of patients had modified Rankin Scale ≤2. The latest follow-up showed overall complete/near-complete occlusion rates of 76.1%, with 81.14% for ruptured and 73.43% for unruptured aneurysms. Technical success was higher in unruptured cases (100% vs 93.1%). CONCLUSION/CONCLUSIONS:Our case series demonstrated the efficacy of the SVB with a high rate of technical success. The occlusion rates for ruptured cases are comparable with those of other FDs. However, the rates are lower for unruptured cases. This discrepancy is likely due to the characteristics of the aneurysms, particularly in the presence of side branches in bifurcation lesions. The SVB safety profile is similar to other FDs in unruptured cases, while the ruptured group presented more complications.
PMID: 40637427
ISSN: 1524-4040
CID: 5891022
