35 results on '"Bergner, Amanda"'
Search Results
2. Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort.
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Martin, Bree E., Sands, Tristan, Bier, Louise, Bergner, Amanda, Boehme, Amelia K., and Lippa, Natalie
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Background Studies indicate that variants of uncertain significance are more common in non-European populations due to lack of a diversity in population databases. This difference has not been explored in epilepsy, which is increasingly found to be genetic in paediatric populations, and has precision medicine applications. This study examines the differences in the frequency of uncertain next-generation sequencing (NGS) results among a paediatric epilepsy cohort between ancestral groups historically under-represented in biomedical research (UBR) and represented in biomedical research (RBR). Methods A retrospective chart review of patients with epilepsy seen at Columbia University Irving Medical Center (CUIMC). One hundred seventy-eight cases met the following criteria: (1) visited any provider within the Pediatric Neurology Clinic at CUIMC, (2) had an ICD code indicating a diagnosis of epilepsy, (3) underwent NGS testing after March 2015 and (4) had self-reported ancestry that fit into a single dichotomous category of either historically represented or under-represented in biomedical research. Results UBR cases had significantly higher rates of uncertain results when compared with RBR cases (79.2% UBR, 20.8% RBR; p value=0.002). This finding remained true after controlling for potential confounding factors, including sex, intellectual disability or developmental delay, epilepsy type, age of onset, number of genes tested and year of testing. Conclusion Our results add to the literature that individuals who are of ancestries historically underrepresented in genetics research are more likely to receive uncertain genetic results than those of represented majority ancestral groups and establishes this finding in an epilepsy cohort. [ABSTRACT FROM AUTHOR]
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- 2024
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3. Patient-reported outcomes of pain and physical functioning in neurofibromatosis clinical trials
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Wolters, Pamela L, Martin, Staci, Merker, Vanessa L, Tonsgard, James H, Solomon, Sondra E, Baldwin, Andrea, Bergner, Amanda L, Walsh, Karin, Thompson, Heather L, Gardner, Kathy L, Hingtgen, Cynthia M, Schorry, Elizabeth, Dudley, William N, and Franklin, Barbara
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Biomedical and Clinical Sciences ,Clinical Sciences ,Clinical Research ,Chronic Pain ,Neurosciences ,Pain Research ,Clinical Trials and Supportive Activities ,Good Health and Well Being ,Clinical Trials as Topic ,Disability Evaluation ,Humans ,Neurofibromatoses ,Pain ,Pain Measurement ,Patient Reported Outcome Measures ,Self Report ,REiNS International Collaboration ,Cognitive Sciences ,Neurology & Neurosurgery ,Clinical sciences - Abstract
ObjectiveTumors and other disease complications of neurofibromatosis (NF) can cause pain and negatively affect physical functioning. To document the clinical benefit of treatment in NF trials targeting these manifestations, patient-reported outcomes (PROs) assessing pain and physical functioning should be included as study endpoints. Currently, there is no consensus on the selection and use of such measures in the NF population. This article presents the recommendations of the PRO group of the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration for assessing the domains of pain and physical functioning for NF clinical trials.MethodsThe REiNS PRO group reviewed and rated existing PRO measures assessing pain intensity, pain interference, and physical functioning using their systematic method. Final recommendations are based primarily on 4 main criteria: patient characteristics, item content, psychometric properties, and feasibility for clinical trials.ResultsThe REiNS PRO group chose the Numeric Rating Scale-11 (≥8 years) to assess pain intensity, the Pain Interference Index (6-24 years) and the Patient-Reported Outcome Measurement Information System (PROMIS) Pain Interference Scale (≥18 years) to evaluate pain interference, and the PROMIS Physical Functioning Scale to measure upper extremity function and mobility (≥5 years) for NF clinical trials.ConclusionsThe REiNS Collaboration currently recommends these PRO measures to assess the domains of pain and physical functioning for NF clinical trials; however, further research is needed to evaluate their use in individuals with NF. A final consensus recommendation for the pain interference measure will be disseminated in a future publication based on findings from additional published research.
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- 2016
4. Exploring the evolving roles of clinical geneticists and genetic counselors in the era of genomic medicine.
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Freiman, Andrew, Rekab, Aisha, Bergner, Amanda L., Pereira, Elaine M., Lin, Yuhuan, and Ahimaz, Priyanka
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The increased utilization of clinical genomic sequencing in the past decade has ushered in the era of genomic medicine, requiring genetics providers to acquire new skills and adapt their practices. The change in workplace responsibilities of clinical/medical geneticists (CMGs) and genetic counselors (GCs) in North America, due to the evolution of genetic testing, has not been studied. We surveyed CMGs (n = 80) and GCs (n = 127) with experience in general/pediatric genetics to describe their current practice of clinical tasks and the change in regularity of performing these tasks over the past 5–10 years. Currently, complementarity of responsibilities between CMGs and GCs clearly exists but providers who have been in the field for longer have noted role changes. Trends indicate that fewer experienced CMGs perform physical exams and select genetic tests than before and fewer experienced GCs complete requisitions and write result letters. The frequency of CMGs and GCs who investigate genetic test results, however, has increased. This study provides insight into the changing landscape of clinical genetics practice. Our findings suggest that the roles and responsibilities of CMGs and GCs have shifted in the past decade. [ABSTRACT FROM AUTHOR]
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- 2024
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5. Genetic counselors' utilization of ChatGPT in professional practice: A cross‐sectional study.
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Ahimaz, Priyanka, Bergner, Amanda L., Florido, Michelle E., Harkavy, Nina, and Bhattacharyya, Sriya
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Purpose: The precision medicine era has seen increased utilization of artificial intelligence (AI) in the field of genetics. We sought to explore the ways that genetic counselors (GCs) currently use the publicly accessible AI tool Chat Generative Pre‐trained Transformer (ChatGPT) in their work. Methods: GCs in North America were surveyed about how ChatGPT is used in different aspects of their work. Descriptive statistics were reported through frequencies and means. Results: Of 118 GCs who completed the survey, 33.8% (40) reported using ChatGPT in their work; 47.5% (19) use it in clinical practice, 35% (14) use it in education, and 32.5% (13) use it in research. Most GCs (62.7%; 74) felt that it saves time on administrative tasks but the majority (82.2%; 97) felt that a paramount challenge was the risk of obtaining incorrect information. The majority of GCs not using ChatGPT (58.9%; 46) felt it was not necessary for their work. Conclusion: A considerable number of GCs in the field are using ChatGPT in different ways, but it is primarily helpful with tasks that involve writing. It has potential to streamline workflow issues encountered in clinical genetics, but practitioners need to be informed and uniformly trained about its limitations. [ABSTRACT FROM AUTHOR]
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- 2024
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6. Knowledge and beliefs about epilepsy genetics among Hispanic and non‐Hispanic patients.
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Trujillo, Shannon, Wetmore, John B., Camarillo, Itzel A., Misiewicz, Sylwia, May, Halie, Choi, Hyunmi, Siegel, Karolynn, Chung, Wendy K., Phelan, Jo C., Yang, Lawrence H., Leu, Cheng‐Shiun, Bergner, Amanda L., and Ottman, Ruth
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EPILEPSY ,GENETICS ,PEOPLE with epilepsy ,MEDICAL care ,GENETIC counseling ,GENETIC testing ,LINCRNA - Abstract
Objective: Hispanics continue to face challenges when trying to access health care, including epilepsy care and genetic‐related health care services. This study examined epilepsy genetic knowledge and beliefs in this historically underserved population. Methods: Questionnaires were completed by 641 adults with epilepsy without identified cause, of whom 122 self‐identified as Hispanic or Latino and 519 as non‐Hispanic. Participants were asked about their views on the contribution of genetics to the cause of their epilepsy ("genetic attribution"), optimism for advancements in epilepsy genetic research ("genetic optimism"), basic genetic knowledge, and epilepsy‐specific genetic knowledge. Generalized linear models were used to compare the two groups in the means of quantitative measures and percents answered correctly for individual genetic knowledge items. Analyses were adjusted for age, sex, education, religion, family history of epilepsy, and time since last seizure. Results: Hispanics did not differ from non‐Hispanics in genetic attribution, genetic optimism, or number of six basic genetic knowledge items answered correctly. The number of nine epilepsy‐specific genetic knowledge items answered correctly was significantly lower for Hispanics than non‐Hispanics (adjusted mean = 6.0 vs. 6.7, p <.001). After adjustment for education and other potential mediators, the proportion answered correctly was significantly lower for Hispanics than non‐Hispanics for only two items related to family history and penetrance of epilepsy‐related genes. Only 54% of Hispanics and 61% of non‐Hispanics answered correctly that "If a person has epilepsy, his or her relatives have an increased chance of getting epilepsy." Significance: Despite large differences in sociodemographic variables including education, most attitudes and beliefs about genetics were similar in Hispanics and non‐Hispanics. Epilepsy‐specific genetic knowledge was lower among Hispanics than non‐Hispanics, and this difference was mostly mediated by differences in demographic variables. Genetic counseling should address key concepts related to epilepsy genetics to ensure they are well understood by both Hispanic and non‐Hispanic patients. [ABSTRACT FROM AUTHOR]
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- 2023
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7. Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research Results
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Berrios, Courtney, James, Cynthia A., Raraigh, Karen, Bollinger, Juli, Murray, Brittney, Tichnell, Crystal, Applegate, Carolyn D., and Bergner, Amanda L.
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- 2017
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8. The Dynamics of a Genetic Counseling Peer Supervision Group
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Lewis, Katie L., Erby, Lori A. H., Bergner, Amanda L., Reed, E. Kate, Johnson, Maria R., Adcock, Jessica Y., and Weaver, Meredith A.
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- 2017
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9. P395: Assessing the collaborative relationships among diverse stakeholders working to expand access to genetic services in Puerto Rico
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Kutsa, Oksana, Terry, Alissa, Bodurtha, Joann, Caggana, Michele, Gonzalez, Carlos, Lopez, Enrique, Frangenberg, Maria, Burgos, Coralaidee, Arciniegas-Medina, Norma, Bergner, Amanda, and Raspa, Melissa
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- 2023
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10. The utility of limited Spanish proficiency in interpreted genetic counseling sessions.
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Waggoner, Rebecca M., Harkavy, Nina, Way, Lorraine, Florido, Michelle E., Sánchez, Adriana, and Bergner, Amanda L.
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Professional interpreters are an integral component of healthcare for Spanish‐speaking individuals with limited English proficiency (LEP). Research has demonstrated that errors in interpretation are common and can contribute to poor outcomes for Spanish‐speaking clients. Providers with some Spanish proficiency may be able to detect clinically significant interpretation errors, potentially limiting negative clinical outcomes and helping to reduce health disparities for clients with LEP. This study aimed to identify the level of Spanish proficiency necessary for genetic counselors to be able to detect a majority of clinically significant errors made by a professional interpreter during a reproductive genetic counseling session. Practicing genetic counselors and genetic counseling graduate students were surveyed regarding their Spanish language background, experience working with interpreters, and self‐rated Spanish proficiency. Participants then watched short video clips from three simulated reproductive genetic counseling sessions conducted with a professional interpreter and were tasked with identifying clinically significant interpretation errors. Survey responses were analyzed from 118 participants who met eligibility criteria. Participants who reported "basic" and "fair" Spanish proficiency detected an average of 36.5% and 67% of clinically significant errors, respectively. Those reporting "good" proficiency or higher detected more than 80% of errors. Overall self‐rated Spanish proficiency was positively correlated with years of Spanish language education and individual measures of speaking, listening, and reading proficiency, indicating that self‐report may be a reasonable measure of proficiency when the goal is error detection in an interpreted session. Genetic counselors with even minimal Spanish proficiency can detect clinically significant interpretation errors, allowing for the correction of these errors during the session. Genetic counselors with "basic" and "fair" may consider genetic counseling‐specific Spanish language classes to increase their proficiency to be able to detect a majority of interpretation errors and thereby improve the quality of care and reduce health disparities for Spanish‐speaking clients. [ABSTRACT FROM AUTHOR]
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- 2023
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11. 2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling
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Doyle, Debra Lochner, Awwad, Rawan I., Austin, Jehannine C., Baty, Bonnie J., Bergner, Amanda L., Brewster, Stephanie J., Erby, Lori A. H., Franklin, Cathi Rubin, Greb, Anne E., Grubs, Robin E., Hooker, Gillian W., Noblin, Sarah Jane, Ormond, Kelly E., Palmer, Christina G., Petty, Elizabeth M., Singletary, Claire N., Thomas, Matthew J., Toriello, Helga, Walton, Carol S., and Uhlmann, Wendy R.
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- 2016
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12. Clinical utility of exome sequencing in a pediatric epilepsy cohort.
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Graifman, Jordana L., Lippa, Natalie C., Mulhern, Maureen S., Bergner, Amanda L., and Sands, Tristan T.
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EPILEPSY ,MEDICAL specialties & specialists ,TERTIARY care ,GENETIC counseling ,MEDICAL research ,CHILD patients - Abstract
Objective: Exome sequencing (ES) has played an important role in the identification of causative variants for individuals with epilepsy and has proven to be a valuable diagnostic tool. Less is known about its clinical utility once a diagnosis is received. This study systematically reviewed the impact of ES results on clinical decision‐making and patient care in a pediatric epilepsy cohort at a tertiary care medical center. Methods: Pediatric patients with unexplained epilepsy were referred by their neurologist, and informed consent was obtained through an institutional review board–approved research ES protocol. For patients who received a genetic diagnosis, a retrospective chart review was completed of the probands and their relatives' medical records prior to and after genetic diagnosis. The following outcomes were explored: provider management recommendations, changes in care actually implemented, and anticipatory guidance provided regarding the proband's condition. Results: Fifty‐three probands met the inclusion criteria. Genetic diagnosis led to at least one provider recommendation in 41.5% families (22/53). Recommendations were observed in the following categories: medication, screening for non‐neurological comorbidities/referrals to specialists, referrals to clinical research/trials, and cascade testing. Anticipatory guidance including information about molecular diagnosis, prognosis, and relevant foundations/advocacy groups was also observed. Significance: Results demonstrate the clinical utility of ES for individuals with epilepsy across multiple aspects of patient care, including anti‐seizure medication (ASM) selection; screening for non‐neurological comorbidities and referrals to appropriate medical specialists; referral to reproductive genetic counseling; and access to research, information, and support resources. To our knowledge, this is the first study to evaluate the clinical utility of ES for a pediatric epilepsy cohort with broad epilepsy phenotypes. This work supports the implementation of ES as part of clinical care in this population. [ABSTRACT FROM AUTHOR]
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- 2023
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13. Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas
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Piotrowski, Arkadiusz, Xie, Jing, Liu, Ying F, Poplawski, Andrzej B, Gomes, Alicia R, Madanecki, Piotr, Fu, Chuanhua, Crowley, Michael R, Crossman, David K, Armstrong, Linlea, Babovic-Vuksanovic, Dusica, Bergner, Amanda, Blakeley, Jaishri O, Blumenthal, Andrea L, Daniels, Molly S, Feit, Howard, Gardner, Kathy, Hurst, Stephanie, Kobelka, Christine, Lee, Chung, Nagy, Rebecca, Rauen, Katherine A, Slopis, John M, Suwannarat, Pim, Westman, Judith A, Zanko, Andrea, Korf, Bruce R, and Messiaen, Ludwine M
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- 2014
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14. Informed consent for exome sequencing research in families with genetic disease: The emerging issue of incidental findings
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Bergner, Amanda L., Bollinger, Juli, Raraigh, Karen S., Tichnell, Crystal, Murray, Brittney, Blout, Carrie Lynn, Telegrafi, Aida Bytyci, and James, Cynthia A.
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- 2014
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15. Increased risk of breast cancer in women with NF1
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Madanikia, Sara Aileen, Bergner, Amanda, Ye, Xiaobu, and Blakeley, Jaishri OʼNeill
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- 2012
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16. A report of the AGCPD task force to evaluate associations between select admissions requirements, demographics, and performance on ABGC certification examination.
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Myers, Melanie F., Bergner, Amanda, Conway, Laura, Duquette, Debra, Durst, Andrea L., Yashar, Beverly M., Zhang, Xue, and Campion, MaryAnn
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Graduation from a genetic counseling graduate program accredited by the Accreditation Council of Genetic Counseling and certification obtained by passing the American Board of Genetic Counseling (ABGC) certification examination are increasingly required to practice as a genetic counselor in the USA. Despite the ABGC certification examination serving as a gateway to the genetic counseling career, there have been no research studies to date that have examined what variables are associated with examination performance. Therefore, the Association of Genetic Counseling Program Directors established a Task Force to assess whether trainee demographics, Grade point average (GPA) and Graduate Record Exam (GRE®) percentile scores are associated with passing the ABGC certification examination on the first attempt. We surveyed accredited genetic counseling graduate programs in North America and gathered demographic data, admissions variables, and certification examination outcome data for 1,494 trainees from 24 training programs, representing approximately 60.5% of matriculants between 2007 and 2016. Univariable analysis was performed to assess associations between admissions variables and categorical outcome (pass vs. fail) on the certification examination using Wilcoxon rank‐sum or Fisher's exact test. Variables significantly associated with the categorical board outcome were then entered in a stepwise model selection procedure. In stepwise logistic regression, trainees with higher GPA (OR = 3.41; 95% CI = 1.99, 5.83), higher verbal (OR = 1.02; 95% CI = 1.01, 1.03) and quantitative (OR = 1.02; 95% CI = 1.01, 1.03) GRE® scores, female trainees (OR = 2.95; 95% CI = 1.70, 5.12), and White trainees (OR 3.37; 95% CI = 2.14, 5.30) had higher odds of passing the certification examination on the first attempt. As programs move to a holistic approach to graduate admissions in order to improve access to the genetic counseling profession, our results may influence programs to provide additional preparation for the certification examination for all trainees. In addition, genetic counseling professional organizations should continue to work together to assess and eliminate outcome disparities in admissions, training, and certification processes. [ABSTRACT FROM AUTHOR]
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- 2022
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17. Metanephric Stromal Tumor Arising in a Patient With Neurofibromatosis Type I Syndrome
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McDonald, Oliver G., Rodriguez, Ron, Bergner, Amanda, and Argani, Pedram
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- 2011
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18. Genetic testing for the epilepsies: A systematic review.
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Sheidley, Beth R., Malinowski, Jennifer, Bergner, Amanda L., Bier, Louise, Gloss, David S., Mu, Weiyi, Mulhern, Maureen M., Partack, Emily J., and Poduri, Annapurna
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GENETIC testing ,COMPARATIVE genomic hybridization ,EPILEPSY ,PEOPLE with epilepsy ,GENETIC counseling - Abstract
Objective: Numerous genetic testing options for individuals with epilepsy have emerged over the past decade without clear guidelines regarding optimal testing strategies. We performed a systematic evidence review (SER) and conducted meta‐analyses of the diagnostic yield of genetic tests commonly utilized for patients with epilepsy. We also assessed nonyield outcomes (NYOs) such as changes in treatment and/or management, prognostic information, recurrence risk determination, and genetic counseling. Methods: We performed an SER, in accordance with PRISMA (Preferred Reporting Items for Systematic Reviews and Meta‐Analyses), using PubMed, Embase, CINAHL, and Cochrane Central through December of 2020. We included studies that utilized genome sequencing (GS), exome sequencing (ES), multigene panel (MGP), and/or genome‐wide comparative genomic hybridization/chromosomal microarray (CGH/CMA) in cohorts (n ≥ 10) ascertained for epilepsy. Quality assessment was undertaken using ROBINS‐I (Risk of Bias in Non‐Randomized Studies of Interventions). We estimated diagnostic yields and 95% confidence intervals with random effects meta‐analyses and narratively synthesized NYOs. Results: From 5985 nonduplicated articles published through 2020, 154 met inclusion criteria and were included in meta‐analyses of diagnostic yield; 43 of those were included in the NYO synthesis. The overall diagnostic yield across all test modalities was 17%, with the highest yield for GS (48%), followed by ES (24%), MGP (19%), and CGH/CMA (9%). The only phenotypic factors that were significantly associated with increased yield were (1) the presence of developmental and epileptic encephalopathy and/or (2) the presence of neurodevelopmental comorbidities. Studies reporting NYOs addressed clinical and personal utility of testing. Significance: This comprehensive SER, focused specifically on the literature regarding patients with epilepsy, provides a comparative assessment of the yield of clinically available tests, which will help shape clinician decision‐making and policy regarding insurance coverage for genetic testing. We highlight the need for prospective assessment of the clinical and personal utility of genetic testing for patients with epilepsy and for standardization in reporting patient characteristics. [ABSTRACT FROM AUTHOR]
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- 2022
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19. Mutation analysis of B3GALTL in Peters Plus syndrome
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Reis, Linda M., Tyler, Rebecca C., Abdul-Rahman, Omar, Trapane, Pamela, Wallerstein, Robert, Broome, Diane, Hoffman, Jodi, Khan, Aneal, Paradiso, Christina, Ron, Nitin, Bergner, Amanda, and Semina, Elena V.
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- 2008
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20. The evolution of genetic counseling graduate education in New York City during the COVID‐19 pandemic: In the eye of the storm.
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Bergner, Amanda L., Ecker, Lindsey Alico, Ernst, Michelle E., Goelz, Monika Zak, Habermann, Kristina, Karger, Lisa, and Zinberg, Randi E.
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The COVID‐19 pandemic has ravaged the globe in the past year, demanding shifts in all aspects of life including health profession education. The New York City area was the first major United States epicenter and is home to four genetic counseling graduate programs. We set out to explore the multifaceted programmatic changes required from the four institutions in an early pandemic epicenter, providing the longest time horizon available for assessing the implications of this restructuring on graduate education in the profession. Using practitioner‐based enquiry, our iterative reflections identified three phases of COVID‐19 response within our programs from March through December 2020. The spring months were marked by significant upheaval and reactivity, with a focus on stabilizing our programs in an unstable environment that included a significant medical response required in our area. By summer, we were reinvesting time and energy into our programs and prioritizing best practices in online learning. Relative predictability returned in the fall with noticeable improvements in flexibility and proactive problem‐solving within our new environment. We have begun to identify changes in both curricula and operations that are likely to become more permanent. Telehealth fieldwork, remote supervision, simulated cases with standardized clients, and virtual recruitment and admission events are some key examples. We explored early outcome measures, such as enrollment, retention, course evaluations, and student academic and fieldwork progress, all indicating little change from prior to the pandemic to date. Overall, we found our programs, and genetic counseling graduate education more broadly, to be much more resilient and flexible than we would ever have realized. The COVID‐19 pandemic has awakened in us a desire to move ahead with reduced barriers to educational innovation. [ABSTRACT FROM AUTHOR]
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- 2021
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21. Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis—Practice Resource of the National Society of Genetic Counselors.
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Radtke, Heather B., Bergner, Amanda L., Goetsch, Allison L., McGowan, Caroline, Panzer, Karin, and Cannon, Ashley
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The goal of this practice resource is to provide genetic counselors and other healthcare professionals with a resource to reference when providing genetic counseling services to individuals and families undergoing evaluation for neurofibromatosis (NF) or who have received a diagnosis of NF, including NF1, NF2, and schwannomatosis. This resource represents the opinions of a multi‐center working group of Certified Genetic Counselors with experience in the care of individuals with NF, providing topics to be considered for the incorporation into a clinical genetic counseling session. [ABSTRACT FROM AUTHOR]
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- 2020
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22. Reflections on diversity, equity, and inclusion in genetic counseling education.
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Bao, Annie K., Bergner, Amanda L., Chan‐Smutko, Gayun, and Villiers, Janelle
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Through self‐reflection, self‐education, and with a learning mindset each of us has embarked on a personal path to understand the impact of racism in our personal and professional lives. This personal work is ongoing, though it was through our individual paths that led us to engage in dialogue on race and racism at the 38th National Society of Genetic Counselors Annual Conference. We initially did not know each other; however, we were drawn by a mutual desire to further the conversation and sought connection with each other after the Conversations Around Diversity Platform Presentations. Through sustained, open dialogue we created a brave space for sharing our emotional and intellectual responses to the conference. Through this dialogue and through written reflections, we recognized an emboldened urgency to author a joint reflection on our shared responsibility as genetic counseling training program leaders to use our privilege in service to our students and future students. We have the evidence that we are not a diverse profession. We have more evidence now than we did before that our profession performs poorly with regards to inclusivity. Our inability to acknowledge, address, and discuss racism and other forms of oppression is damaging to each of us individually and as a group of professionals. We owe it to ourselves, our students, our patients, and colleagues to name our learned biases and behaviors, own them and interrupt them. [ABSTRACT FROM AUTHOR]
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- 2020
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23. Improvement in Patient-reported Hearing After Treatment With Bevacizumab in People With Neurofibromatosis Type 2.
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Huang, Victoria, Bergner, Amanda L., Halpin, Chris, Merker, Vanessa L., Sheridan, Monica R., Widemann, Brigitte C., Blakeley, Jaishri O., and Plotkin, Scott R.
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- 2018
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24. Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research Results.
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Berrios, Courtney, James, Cynthia A., Raraigh, Karen, Bollinger, Juli, Murray, Brittney, Tichnell, Crystal, Applegate, Carolyn D., and Bergner, Amanda L.
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Genetic counselors working in a clinical setting may find themselves recruiting, enrolling, and returning results for genomic research, and existing clinical relationships with study participants may impact these research interactions. We present a qualitative study using semi-structured interviews of participants enrolled in a genome sequencing/exome sequencing (GS/ES) study at the same institution where they receive clinical care. Interviews were coded for motivations to participate and expectations of this research. The interviews revealed common motivations for participation, including altruism and hope for benefit for themselves, family members, and/or others with their condition. Additionally, themes emerged related to unintentional influence based on trust of the clinical provider that recruited them to the study. Participant trust in the enrolling provider at times appeared to extend to the study team to decide which research results to return and to do so in an appropriate format. Participants also based expectations for research results return on previous clinical genetic testing experiences, which may or may not be realistic depending on study design. It is imperative that genetic counselors enrolling patients into research studies be aware of the potential influence of their clinical relationship on potential subjects, be transparent about their role on the study team, and help set expectations about the study process, including results return. [ABSTRACT FROM AUTHOR]
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- 2018
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25. Health-related Quality of Life of Individuals With Neurofibromatosis Type 2: Results From the NF2 Natural History Study.
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Merker, Vanessa L., Bergner, Amanda L., Vranceanu, Ana-Maria, Muzikansky, Alona, Slattery III, William, Plotkin, Scott R., and Slattery, William 3rd
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- 2016
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26. Efficacy and Biomarker Study of Bevacizumab for Hearing Loss Resulting From Neurofibromatosis Type 2-Associated Vestibular Schwannomas.
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Blakeley, Jaishri O., Xiaobu Ye, Duda, Dan G., Halpin, Chris F., Bergner, Amanda L., Muzikansky, Alona, Merker, Vanessa L., Gerstner, Elizabeth R., Fayad, Laura M., Ahlawat, Shivani, Jacobs, Michael A., Jain, Rakesh K., Zalewski, Christopher, Dombi, Eva, Widemann, Brigitte C., Plotkin, Scott R., and Ye, Xiaobu
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- 2016
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27. Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation
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Cohn, Ronald D., Eklund, Erik, Bergner, Amanda L., Casella, James F., Woods, S. Lee, Althaus, Janyne, Blakemore, Karin J., Fox, Harold E., Hoover-Fong, Julie E., Hamosh, Ada, Braverman, Nancy E., Freeze, Hudson H., and Boyadjiev, Simeon A.
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Genetic disorders -- Diagnosis ,Genetic disorders -- Case studies ,Brain -- Hemorrhage ,Brain -- Diagnosis ,Brain -- Case studies - Abstract
Intracranial hemorrhage in a term neonate is a rare event in the absence of an identifiable precipitating factor such as severe thrombocytopenia, mechanical trauma, asphyxia, infections, or congenital vascular malformations. Congenital disorders of glycosylation are a genetically and clinically heterogeneous group of multisystem disorders characterized by the abnormal glycosylation of a number of glycoproteins. Although bleeding caused by abnormal glycosylation of various coagulation factors is a well-known clinical complication of several types of congenital disorders of glycosylation, intracranial hemorrhage has not been reported as an initial manifestation of this entity. Here we report the detailed history of a family with 2 consecutive male infants, both born at term with intracranial hemorrhage diagnosed within the first 24 hours of life. The diagnosis of a congenital disorder of glycosylation was established in the second infant by an abnormal glycosylation of serum transferrin detected by electrospray-ionization mass spectrometry. Both infants showed significant neurologic deterioration during the first month of life, and both died at 5 months of age. Intracranial hemorrhage in a term neonate without a potential precipitating factor represents yet another clinical feature that should raise the suspicion for a congenital disorder of glycosylation. KEY WORDS. intracranial hemorrhage, congenital, glycosylation disorder., URL: www.pediatrics.org/cgi/doi/10.1542/peds.2005-1307 Ronald D. Cohn, MD, Erik Eklund, MD, PhD, Amanda L. Bergner, MS, CGC, James F. Casella, MD, S. Lee Woods, MD, Janyne Althaus, MD, Karin J. Blakemore, MD, [...]
- Published
- 2006
28. Dystrophic Spinal Deformities in a Neurofibromatosis Type 1 Murine Model.
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Rhodes, Steven D., Zhang, Wei, Yang, Dalong, Yang, Hao, Chen, Shi, Wu, Xiaohua, Li, Xiaohong, Yang, Xianlin, Mohammad, Khalid S., Guise, Theresa A., Bergner, Amanda L., Stevenson, David A., and Yang, Feng-Chun
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SPINE abnormalities ,NEUROFIBROMATOSIS ,HISTOMORPHOMETRY ,SCOLIOSIS ,INTERVERTEBRAL disk diseases ,ACQUISITION of data - Abstract
Despite the high prevalence and significant morbidity of spinal anomalies in neurofibromatosis type 1 (NF1), the pathogenesis of these defects remains largely unknown. Here, we present two murine models: Nf1
flox/− ;PeriCre and Nf1flox/− ;Col.2.3Cre mice, which recapitulate spinal deformities seen in the human disease. Dynamic histomorphometry and microtomographic studies show recalcitrant bone remodeling and distorted bone microarchitecture within the vertebral spine of Nf1flox/− ;PeriCre and Nf1flox/− ;Col2.3Cre mice, with analogous histological features present in a human patient with dystrophic scoliosis. Intriguingly, 36–60% of Nf1flox/− ;PeriCre and Nf1flox/− ;Col2.3Cre mice exhibit segmental vertebral fusion anomalies with boney obliteration of the intervertebral disc (IVD). While analogous findings have not yet been reported in the NF1 patient population, we herein present two case reports of IVD defects and interarticular vertebral fusion in patients with NF1. Collectively, these data provide novel insights regarding the pathophysiology of dystrophic spinal anomalies in NF1, and provide impetus for future radiographic analyses of larger patient cohorts to determine whether IVD and vertebral fusion defects may have been previously overlooked or underreported in the NF1 patient population. [ABSTRACT FROM AUTHOR]- Published
- 2015
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29. Spectrum and Prevalence of Vasculopathy in Pediatric Neurofibromatosis Type 1.
- Author
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Kaas, Bonnie, Huisman, Thierry A. G. M., Tekes, Aylin, Bergner, Amanda, Blakeley, Jaishri O., and Jordan, Lori C.
- Subjects
NEUROFIBROMATOSIS ,PHAKOMATOSES ,MOYAMOYA disease ,PEDIATRICS ,PERIPHERAL vascular diseases ,NEUROFIBROMA ,GLIOMAS ,PATIENTS ,DIAGNOSIS - Abstract
To describe the spectrum and associated clinical features of peripheral and cerebral vasculopathy in pediatric patients with neurofibromatosis type 1, children seen at a single center from 2000 to 2010 with appropriate imaging studies were identified. Scans were assessed for vascular disease by 2 pediatric neuroradiologists. Of 181 children, 80 had pertinent imaging studies: 77 had brain imaging, 6 had peripheral imaging, and 3 had both. Vasculopathy was identified in 14/80 children (18%, minimum prevalence of 14/181; 8%). Of those with vascular abnormalities, 2/14 had peripheral vasculopathy (1% minimum prevalence) and 12/14 had cerebrovascular abnormalities (7% minimum prevalence). No associations were found between vasculopathy and common clinical features of neurofibromatosis type 1, including optic pathway glioma, plexiform neurofibroma, skeletal abnormalities, attention-deficit hyperactivity disorder (ADHD), or suspected learning disability. Both peripheral and cerebral vasculopathy are important complications of pediatric neurofibromatosis type 1 and should be considered in the management of this complex disease. [ABSTRACT FROM AUTHOR]
- Published
- 2013
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30. Metanephric Stromal Tumor Arising in a Patient With Neurofibromatosis Type 1 Syndrome.
- Author
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McDonald, Oliver G., Rodriguez, Ron, Bergner, Amanda, and Argani, Pedram
- Subjects
TUMORS ,NEUROFIBROMATOSIS ,BLOOD-vessel abnormalities ,HYPERTENSION ,EPITHELIAL cells - Abstract
Metanephric stromal tumor (MST) is a recently recognized benign renal stromal tumor. MST is thought to be part of a spectrum of benign metanephric renal lesions, which also includes the epithelial lesion metanephric adenoma and the mixed stromal–epithelial lesion metanephric adenofibroma. Metanephric lesions may represent hyperdifferentiated counterparts to Wilms’ tumor (WT). MST characteristically shows renovascular angiodysplasia and juxtaglomerular (JG) cell hyperplasia. This is remarkably similar to the renal pathology described in neurofibromatosis-1 (NF-1) syndrome, a condition which is also associated with WT. Here, we report the first case of MST arising in a patient with NF-1. The patient presented with hypertension, and the MST was associated with florid angiodysplasia and JG cell hyperplasia. This case tightens the link between NF-1, WT, and MST. [ABSTRACT FROM PUBLISHER]
- Published
- 2011
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31. Clinical response to bevacizumab in schwannomatosis.
- Author
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Blakeley, Jaishri, Schreck, Karisa C, Evans, D Gareth, Korf, Bruce R, Zagzag, David, Karajannis, Matthias A, Bergner, Amanda L, and Belzberg, Allan J
- Published
- 2014
- Full Text
- View/download PDF
32. Individuals' experiences in genetic counseling and predictive testing for familial amyotrophic lateral sclerosis.
- Author
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Steigerwald CG, Bertolini C, McElhiney M, Bergner AL, Harms MB, and Harrington EA
- Abstract
As clinical genetic testing in the amyotrophic lateral sclerosis (ALS) diagnostic setting increases, the identification of at-risk family members has also expanded. No practice guidelines specifically for predictive genetic testing exist, and few studies about the psychological impacts of testing in this subgroup have occurred, limiting the ability to tailor recommendations and counseling in this community. We surveyed asymptomatic individuals at risk for inheriting an ALS-associated gene mutation. The 80-question survey was designed using a combination of validated measures (General Anxiety Disorder; FACToR; Decision Regret Scale) and original items. Ninety participants completed the survey, including those who completed predictive genetic testing (N = 42) and those who did not (N = 48). Gene positive individuals experienced greater negativity, uncertainty, and overall psychological impairment (p = 0.002; p < 0.001; p = 0.001). Individuals who had not undergone testing reported thinking about their risk multiple times per day and experiencing more decisional regret than those who tested (p = 0.006). In terms of decision-making, being prepared for potential clinical drug trials was a more important potential benefit among those who underwent testing (p = 0.026). Participants valuing preparedness for clinical drug trials supports the concept that genetic testing for ALS will increase as research in gene-targeted therapeutics progresses. This study describes factors relevant to the genetic testing decision-making process and adaptation to results from the perspective of at-risk individuals, which can ultimately guide genetic counseling practice in this population., (© 2024 National Society of Genetic Counselors.)
- Published
- 2024
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33. Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian disease.
- Author
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Fiallos K, Applegate C, Mathews DJ, Bollinger J, Bergner AL, and James CA
- Subjects
- Female, Genetic Diseases, Inborn epidemiology, Genome, Human, Genome-Wide Association Study methods, Humans, Male, Pedigree, Databases, Genetic standards, Genetic Diseases, Inborn genetics, Genome-Wide Association Study standards, Research Subjects
- Abstract
Although consensus is building that primary (PR) and secondary findings (SF) from genomic research should be offered to participants under some circumstances, data describing (1) actual choices of study participants and (2) factors associated with these choices are limited, hampering study planning. We conducted a cross-sectional analysis of choices made for return of PR and SF during informed consent by members of the first 247 families (790 individuals) enrolled in the Baylor-Hopkins Center for Mendelian Genomics, a genome sequencing study. Most (619; 78.3%) chose to receive SF and PR, 66 (8.4%) chose PR only, 65 (8.2%) wanted no results, and 40 (5.1%) chose SF only. Choosing SF was associated with an established clinical diagnosis in the proband (87.8 vs 79%, P=0.009) and European ancestry (EA) (87.7 vs 73%, P<0.008). Participants of non-European ancestry (NEA) were as likely as those of EA to choose SF when consented by a genetic counselor (GC) (82% NEA vs 88.3% EA, P=0.09) but significantly less likely when consented by a physician (67.4% NEA vs 85.4% EA, P=0.001). Controlling for proband diagnosis, individuals of NEA were 2.13-fold (95% CI: 1.11-4.08) more likely to choose SF when consented by a GC rather than a physician. Participants of NEA were 3-fold more likely than those of EA to decline all study results (14.7% NEA vs 5.4% EA, P<0.008). In this ethnically diverse population, whereas most participants desired PR and SF, more than 20% declined some or all results, highlighting the importance of research participant choice.
- Published
- 2017
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34. Improving the molecular diagnosis and treatment of epilepsy with complex genetic testing.
- Author
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Elliott A and Bergner A
- Subjects
- Epilepsy diagnosis, Humans, Epilepsy genetics, Genetic Techniques
- Published
- 2016
35. Incidental parenchymal magnetic resonance imaging findings in the brains of patients with neurofibromatosis type 2.
- Author
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Vargas WS, Heier LA, Rodriguez F, Bergner A, and Yohay K
- Subjects
- Adolescent, Adult, Aged, Child, Female, Humans, Incidental Findings, Male, Middle Aged, Reproducibility of Results, Sensitivity and Specificity, Young Adult, Brain pathology, Brain Neoplasms pathology, Diffusion Magnetic Resonance Imaging methods, Neurofibromatosis 2 pathology
- Abstract
Purpose: Whereas T2 hyperintensities known as NF-associated bright spots are well described in patients with neurofibromatosis type I (NF-1), there is a paucity of data on incidental findings in patients with neurofibromatosis type II (NF-2). We aim to characterize unexplained imaging findings in the brains of patients with NF-2., Materials and Methods: This study is retrospective, HIPAA-compliant and approved by the institutional review board. 34 patients with NF-2 underwent brain magnetic resonance imaging (MRI) between January 2000 and December 2012. T2 and T1-weighted imaging characteristics, diffusion weighted imaging (DWI) characteristics, and enhancement patterns were analyzed by visual inspection. Clinical information at time of imaging was available for all patients. Neuropathologic data was available for one patient., Results: We found unexplained T2 hyperintensities present on initial imaging in 23/34 patients (67%). Of the 23 patients with unexplained MRI findings, 15 (65%) had wedge-shaped T2 hyperintensities in the subcortical white matter extending to the cortex suggestive of a cortical dysplasia. 3 additional cases (17%) had a lesion within the cerebellum suggestive of a neuronal migration anomaly. In one patient where the MRI was suggestive of focal cortical dysplasia, histopathologic analysis revealed dysplastic glial foci without other alterations of cortical architecture or other cytologic abnormalities., Conclusion: Unexplained T2 hyperintensities occur frequently in patients with NF-2. While they may not be the NF-2 equivalent of NF-associated bright spots seen in NF-1, some of these T2 hyperintensities in patients with NF-2 may represent underlying disorders of neuronal migration. Further studies are needed to validate our findings.
- Published
- 2014
- Full Text
- View/download PDF
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