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18 citation(s) found for "Head, Elizabeth".

Disparities in Hearing Screening Practices in Minnesota Elementary Schools
Sajjadi, Autefeh , Kim, E S, Marcus, Kathryn S. , Todatry, Soorya, Hable, Nicholas, Roby, Brianne, Meyer, Abby C., Redmann, Andrew, Herd, Hannah, Maher, Rebecca, Chinnadurai, Siva, Nickel, Amanda , Jayawardena, Asitha , Kim, Elizabeth , Roby, Brianne , Todatry, Soorya , Hable, Nicholas, Roby, Brianne Barnett , Redmann, Andrew J. , Herd, Hannah

Mayo Clinic

The Laryngoscope | April 29, 2026 | Volume: 136 | Issue: 9 | Pages: 4064-4071

10.1002/lary.70566 | PMID 42049482 Get It

ABSTRACT Objective Identifying and addressing pediatric hearing loss is critical to supporting a child's development. School‐based hearing screening is a mainstay of timely identification of hearing loss. The objectives of this study were to characterize the current hearing screening practices in public, charter, and private elementary schools in Minnesota. Methods This was a cross‐sectional survey with data collected between March and June 2023. Surveys assessed the presence of standardized hearing screening processes and compliance with American Academy of Audiology (AAA) or Minnesota Department of Health (MDH) guidelines. Results About 146 public schools, 43 charter schools, and 60 private schools met inclusion criteria and responded to the survey. There was a statistically significant difference in the rate of standardized screening between school types ( χ 2 = 18.06; p < 0.001). Only 10.44% ( n = 26) of schools completed hearing screenings per AAA guidelines, and even fewer, 4.82% ( n = 12), completed hearing screenings according to MDH guidelines. The odds of screening per AAA or MDH guidelines were 3.50 times higher in charter schools compared to public schools (95% CI: 1.14, 10.73) and 4.61 times higher in private schools compared to public schools (95% CI: 1.73, 12.26). Conclusion There is a lack of standardization in hearing screening processes in Minnesota elementary schools. Adherence to screening per AAA or MDH recommendations is low in all types of elementary schools. Charter and private schools were more likely than public schools to screen per AAA or MDH guidelines. Overall, our data demonstrate an opportunity for improvement in school‐based hearing screening. Level of Evidence N/A.
Celebrating neuropathology's contributions to Alzheimer's Disease Research Centers
Fischer, D. Luke , Beach, Thomas G., Bieniek, Kevin F. , Chkheidze, Rati , Cohen, Mark L. , Crary, John F. , Dugger, Brittany N. , Dunlop, Sara , Haeri, Mohammad , Harrison, William , Head, Elizabeth, Hiniker, Annie , Huang, Eric J. , Kofler, Julia , Latimer, Caitlin S. , McKee, Ann C. , Mente, Karin , Miller, Michael B. , Montine, Thomas J., Nelson, Peter T. , Newell, Kathy L. , Perrin, Richard J., Ramani, Biswarathan , Reichard, R. Ross , Roy, Subhojit , Schlachetzki, Johannes C. M. , Wısnıewskı, Thomas , Lee, Edward B. , Head, Elizabeth , Dunlop, Sara R, Dugger, Brittany N , Lee, Edward B , Head, Elizabeth , Grinberg, Lea T. , Ahrendsen, Jared T. , Beach, Thomas G., Castellani, Rudolph J. , Cobos, Inma , Dickson, Dennis W. , Farrell, Kurt , Ghetti, Bernardino , Hüttner, Anita , Jamshidi, Pouya , Kapasi, Alifiya , Keene, C. Dirk , Miller, Michael B., Montine, Thomas J., Morris, Meaghan , Murray, Melissa E. , Seeley, William W. , Serrano, Geidy E. , Spina, Salvatore , Teich, Andrew F. , Wang, Shih‐Hsiu J.

Mayo Clinic

Alzheimer's & Dementia | October 14, 2025 | Volume: 21 | Issue: 10 | Pages: No page available

10.1002/alz.70734 | PMID 41085158 Get It

Abstract Our understanding of Alzheimer's disease (AD) and related dementias (ADRD) has grown exponentially, thanks to significant investments by the National Institute on Aging (NIA). This article celebrates the 40th anniversary of the NIA's Alzheimer's Disease Research Centers, highlighting the pivotal role of neuropathology as the bedrock for neurodegeneration research. Neuropathology has championed the key principles of proteinopathy, selective vulnerability, and stereotypic spread. Furthermore, neuropathologic studies advanced our understanding of ADRD prevalence, heterogeneity, clinical–pathological correlations, and genetic underpinnings, spurring biomarker development for target engagement and disease monitoring. Disease‐modifying therapies for AD were inspired and informed by neuropathology. The neuropathology community is poised to refine diagnostics, leveraging digital pathology and integrating genetics and pathomics to enhance subtyping for novel precision medicine approaches. Despite some common misconceptions and logistical challenges, neuropathology continues to be a critical component of the ADRD research infrastructure, serving as a key bridge between allied basic and clinical sciences. Highlights We celebrate 40 years of NIA‐funded ADRCs and their contributions through neuropathology studies that have significantly advanced our understanding and treatment of ADRD. Neuropathology uncovers principles of neurodegenerative disease: proteinopathy, selective vulnerability, and stereotypic spread, informing diagnostics and therapies. Development of AD biomarkers with reference to neuropathology enhances accuracy in diagnosis and monitoring, paving the way for targeted disease‐modifying therapies. Integration of digital pathology, genetics, and novel tools in neurodegeneration research promises advanced precision medicine approaches and refined diagnostics. Misconceptions and logistical challenges to neuropathological research are addressed to improve understanding and collaboration.
Cross‐Sectional FDG in Down Syndrome and Autosomal Dominant Alzheimer's Disease
Abdelmoity, Omar , Wisch, Julie K. , Kennedy, James T. , Vlassenko, Andrei G. , Handen, Benjamin L. , Head, Elizabeth , Lai, Florence , Rosas, H. Diana , Hartley, Sigan L. , Tudorascu, Dana , Keefe, Sarah , Ikeuchi, Takeshi, Morris, John C., Roh, Jee Hoon , Day, Gregory S. , Xiong, Chengjie , Head, Elizabeth , Lao, Patrick , Keefe, Sarah , Roh, Jee Hoon , Day, Gregory S , Gordon, Brian A , Xiong, Chengjie , Wisch, Julie K , Goyal, Manu S. , Flores, Shaney , Keator, David B. , Rafii, Michael S. , Zaman, Shahid H. , Brickman, Adam M. , Lee, Joseph H. , Allegri, Ricardo , Fougère, Christian la , Llibre‐Guerra, Jorge J. , Ikeuchi, Takeshi , Morris, John C. , Schofield, Peter R. , Gordon, Brian A. , Benzinger, Tammie L.S. , Ances, Beau M.

Mayo Clinic

Annals of Neurology | September 22, 2025 | Volume: 98 | Issue: 6 | Pages: 1237-1248

10.1002/ana.78002 | PMID 40977577 Get It

Objectives Directly compare the brain glucose patterns seen with [F‐18] fluorodeoxyglucose (FDG) positron emission tomography (PET) between 2 genetically determined forms of Alzheimer's disease: Down syndrome (DS) and autosomal dominant Alzheimer's disease (ADAD). Methods Cross‐sectional analyses of FDG were performed in individuals with DS (n = 76) from the Alzheimer Biomarker Consortium‐Down Syndrome (ABC‐DS), ADAD (n = 297), and neurotypical familial controls (n = 188) from the Dominantly Inherited Alzheimer Network (DIAN). Within‐group linear regression models and generalized additive models were performed for select regional FDG uptake measures (isthmus cingulate and inferior parietal, precuneus, middle temporal gyrus, and precentral gyrus). Age, sex, apolipoprotein (APOE) ε4 carrier status, and cortical amyloid burden were included within these analyses. Results Even 20 years before expected onset of clinical symptoms, FDG uptake was lower for DS compared to neurotypical familial controls ( p < 0.01). ADAD baseline FDG was similar to neurotypical familial controls until 7 years before expected symptom onset. Both symptomatic individuals with DS and ADAD had lower FDG compared to neurotypical familial controls ( p < 0.01). A higher amyloid burden was associated with lower FDG for both genetic forms, with similar rates of decline in FDG uptake for DS and ADAD who were amyloid positive. Interpretation Brain glucose metabolism is substantially lower for people with DS, even in individuals who are cognitively stable. The patterns of FDG decline are distinct in these 2 genetically determined forms of AD. The diagnostic utility of FDG‐PET is specific to the genetic form of AD. ANN NEUROL 2025;98:1237–1248
Laryngeal Sensory Neuropathic Cough Is Not Associated With Membranous Vocal Fold Lesions
Razura, Diego E. , Khachikyan, Nyree, Johns, Michael M. , Shuman, Elizabeth A. , Shuman, Elizabeth , Gallagher, Tyler J.

Mayo Clinic

The Laryngoscope | July 5, 2025 | Volume: 135 | Issue: 11 | Pages: 4296-4302

10.1002/lary.32391 | PMID 40616414 Get It

ABSTRACT Objectives Examine the association between laryngeal sensory neuropathic cough (LSNC) and membranous vocal fold (VF) lesions. Understand the clinical presentation and challenges in diagnosing this idiopathic condition. Methods A retrospective review was conducted of adult patients with chronic cough (> 8 weeks) seen at a tertiary academic laryngology center from 2015 to 2020. Laryngeal videostroboscopy exams were reviewed. Demographics, cough severity index (CSI), and chronic cough duration were collected. Descriptive statistics, chi‐square tests, and multivariable logistic regression (adjusting for age, sex, race, and cough duration) were performed. Results Among 119 patients with LSNC (44.2%), the mean age was 59.8 (SD = 16.5) and they were primarily female (66.4%) and white (39.5%). The mean cough duration was 5.8 years (SD = 9.1), and the mean CSI was 20.8 (SD = 9.4). Most patients (88.2%) had a normal age‐appropriate laryngeal exam. On chi‐square analysis, cough duration was not associated with VF lesion presence ( p = 0.698). In univariable (OR: 1.00 [95% CI: 0.94–1.08]) and multivariable logistic regression (OR: 0.99 [95% CI: 0.93–1.07]), cough duration was not significantly associated with VF lesions. Conclusion LSNC was rarely associated with membranous VF lesions in this cohort. These findings suggest that chronic cough may not be a risk factor for developing VF lesions. Level of Evidence: 4.
Brain Volumetric Trajectories in Down Syndrome and Autosomal Dominant Alzheimer Disease
Kennedy, James Tyler, Boerwinkle, Anna H. , Price, Julie C. , Sathishkumar, Mithra , McMillan, Liv , Laymon, Charles M. , Krinsky‐McHale, Sharon J. , Lai, Florence , Rosas, H. Diana , Lott, Ira T. , Chhatwal, Jasmeer P. , Chui, Helena C., Farlow, Martin R. , Mori, Hiroshi , Perrin, Richard J. , Salloway, Stephen , Xiong, Chengjie , Schupf, Nicole , Mapstone, Mark , Christian, Bradley T. , Wisch, Julie K. , Gordon, Brian A. , Benzinger, Tammie L.S. , Klunk, William E. , Rafii, Michael S. , O’Bryant, Sid E. , Yassa, Michael A. , Brickman, Adam M. , Lao, Patrick , Hartley, Sigan L. , Zaman, Shahid H. , Lee, Joseph H. , Allegri, Ricardo , Berman, Sarah , Chui, Helena C. , Cruchaga, Carlos , Day, Gregory S. , Lee, Jae‐Hong , Xiong, Chengjie , Martins, Ralph N. , Sánchez‐Valle, Raquel , Schofield, Peter William , Hassenstab, Jason , McDade, Eric , Bateman, Randall J. , Handen, Benjamin L. , Head, Elizabeth , Ances, Beau M.

Mayo Clinic

Alzheimer's & Dementia | January 9, 2025 | Volume: 20 | Issue: S2 | Pages: No page available

10.1002/alz.089313 Get It

AbstractBackgroundAlzheimer disease (AD) related cognitive decline occurs at relatively young ages in individuals with Down syndrome (DS, early‐mid 50s) and in those with autosomal dominant mutations (ADAD, 40‐50s). Both groups show similar patterns of amyloid accumulation. We examined if brain volumes are similarly affected by AD pathology in individuals with DS and ADAD.MethodData for cognitively stable and declining participants was obtained from the Alzheimer Biomarker Consortium‐Down Syndrome (ABC‐DS) and the Dominantly Inherited Alzheimer Network (DIAN). Stability/decline was identified based on cognitive testing and interview of individuals and caregivers by trained assessors. Cognitively stable family members without DS/ADAD mutations were recruited as controls from both studies. Participants underwent MRI and amyloid positron emission tomography (PET) scans from which brain volumes and amyloid (centiloids) were derived, respectively. Participants from DIAN had Pittsburgh Compound‐B (PIB) scans, ABC‐DS had PIB or florbetapir. Nonlinear cross‐sectional associations between regional brain volumes and estimated years to onset of cognitive decline (EYO, negative values before onset, positive after) and centiloid were evaluated using generalized additive models while controlling for sex and random effects of family. EYO was set to 52 for all participants with DS and based on parental decline/mutation type for participants with ADAD. EYO for controls was based on the EYO of their family member.ResultData from 239 participants with DS (47 declining), and 340 participants with ADAD (122 declining), and 263 familial controls were included. Higher EYO and centiloid values were associated with lower brain volumes in almost all regions. At earlier EYOs, individuals with DS typically had smaller regional volumes than ADAD or sibling controls, with volume declining linearly across the EYO range. By contrast, ADAD mutation carriers had similar volumes to non‐carriers at early EYOs, with volumes diverging as early as 10 years before decline. Brain volumes and centiloid values were inversely related in ADAD and DSAD. Volume in key cortical regions were similar by the expected year of onset in both groups.ConclusionADAD and DSAD demonstrated different temporal patterns of regional neurodegeneration prior to cognitive change despite being similarly affected by early onset amyloid.
Workforce Analysis of Laryngologists in the United States Between 1993 and 2022
Parikh, Neil U. , Zheng, Melissa , Meratı, Albert L., Johns, Michael M. , Shuman, Elizabeth A. , Shuman, Elizabeth

Mayo Clinic

The Laryngoscope | December 18, 2024 | Volume: 135 | Issue: 5 | Pages: 1759-1766

10.1002/lary.31944 | PMID 39692290 Get It

Introduction This study queries the US laryngology workforce geographic distribution and density and models laryngology workforce trends through 2050. Methods A national database of fellowship‐trained laryngologists (FTLs) and nonfellowship‐trained laryngologists (nFTLs) practicing primarily laryngology was formed by identifying laryngologists via internet search, with validation by regional laryngologists and senior laryngologists on this manuscript. Demographic variables included residency and/or fellowship graduation year, institutional affiliation, and practice zip code. US Census Bureau population data and projections were grouped by hospital referral region (HRR), as defined by the Dartmouth Healthcare Atlas. The National Resident Matching Program (NRMP) provided annual fellowship match data from 2012 to 2022. Results As of May 2023, there were 349 active laryngologists in the United States, including 303 FTLs. The median practice length for all laryngologists was 11 years. HRRs with the largest number of laryngologists were Manhattan, Boston, and Los Angeles, with 23, 16, and 14 respectively. One hundred and ninety‐four of 306 (63%) HRRs did not have an active, primary laryngologist. The national median density of people per laryngologist including HRRs with at least one laryngologist was 645,160. Assuming a 35‐year practice horizon prior to workforce exit and holding the 2018–2022 NRMP average of 18 fellows constant, the number of forecasted laryngologists by 2040 would be 568—an increase of 66%. Conclusions To date, no comprehensive database of practicing US laryngologists nor laryngology workforce forecast exists. Based on current benchmarks, the laryngology workforce would increase by 66% by 2040, ideally addressing the current dearth of laryngologists in low‐density areas. Level of Evidence NA Laryngoscope , 135:1759–1766, 2025
How Does Deep Neural Network-Based Noise Reduction in Hearing Aids Impact Cochlear Implant Candidacy?
Saoji, Aniket A. , Bertsch, Natasha J., Goulson, Kayla R., Graham, Madison K., McDonald, Elizabeth , Bross, Abigail E., Vaisberg, Jonathan M. , Kühnel, Volker, Voss, Solveig C., Qian, Jinyu, Hogan, Cynthia A. , DeJong, Melissa D., McDonald, Elizabeth A, Kühnel, Volker , Hogan, Cynthia H , Sheikh, Bilal A, McDonald, Elizabeth A

Mayo Clinic

Audiology Research | December 13, 2024 | Volume: 14 | Issue: 6 | Pages: 1114-1125

10.3390/audiolres14060092 | PMID 39727615 Get It

Background/Objectives: Adult hearing-impaired patients qualifying for cochlear implants typically exhibit less than 60% sentence recognition under the best hearing aid conditions, either in quiet or noisy environments, with speech and noise presented through a single speaker. This study examines the influence of deep neural network-based (DNN-based) noise reduction on cochlear implant evaluation. Methods: Speech perception was assessed using AzBio sentences in both quiet and noisy conditions (multi-talker babble) at 5 and 10 dB signal-to-noise ratios (SNRs) through one loudspeaker. Sentence recognition scores were measured for 10 hearing-impaired patients using three hearing aid programs: calm situation, speech in noise, and spheric speech in loud noise (DNN-based noise reduction). Speech perception results were compared to bench analyses comprising the phase inversion technique, employed to predict SNR improvement, and the Hearing-Aid Speech Perception Index (HASPI v2), utilized to predict speech intelligibility. Results: The spheric speech in loud noise program improved speech perception by 20 to 32% points as compared to the calm situation program. Thus, DNN-based noise reduction can improve speech perception in noisy environments, potentially reducing the need for cochlear implants in some cases. The phase inversion method showed a 4–5 dB SNR improvement for the DNN-based noise reduction program compared to the other two programs. HASPI v2 predicted slightly better speech intelligibility than was measured in this study. Conclusions: DNN-based noise reduction might make it difficult for some patients with significant residual hearing to qualify for cochlear implantation, potentially delaying its adoption or eliminating the need for it entirely.
Gender and Racial Demographic Trends in the US Laryngology Workforce (1993–2022)
Parikh, Neil U. , Shuman, Elizabeth A. , Johns, Michael M. , Meratı, Albert L., Zheng, Melissa , Parikh, Neil , Shuman, Elizabeth

Mayo Clinic

The Laryngoscope | October 9, 2024 | Volume: 135 | Issue: 2 | Pages: 794-800

10.1002/lary.31819 | PMID 39381931 Get It

ObjectivesTo analyze demographic trends in laryngology fellowship training in the United States from 1993 to 2022, comparing periods before and after formalization of the fellowship within the National Resident Matching Program (NRMP) in 2012.MethodsA national database of fellowship‐trained laryngologists (FTLs) and non‐fellowship‐trained laryngologists (nFTLs) practicing primarily laryngology was created by methodically compiling laryngologists via Internet search, with corroboration by regional laryngologists and vetting by senior laryngologists on this manuscript. Demographic variables included residency and/or fellowship graduation year, gender, race and ethnicity inferred through individuals' photos and surnames. NRMP match data from 2012 to 2022 were obtained from the American Laryngological Association.ResultsAn average of 21 programs offered 23 positions in the NRMP match, with 14 programs (66.4%) filling 16 positions (68.8%) from 2012 to 2022. The 10‐year FTL growth rate decreased from 25.4% (1993–2002) to 10.5% and 6.6% in subsequent periods. In May 2023, there were 349 active laryngologists, including 303 FTLs, in the United States. A total of 189 (62.4%) FTLs were men, 114 (37.6%) were women; 201 (66.2%) were White, 102 (33.8%) were non‐White. Between the pre‐NRMP and post‐NRMP periods, the percentage of male FTLs decreased from 71.5% to 55.5%, female FTLs increased from 28.5% to 44.5%, and White FTLs decreased from 69.2% to 64.2%. Chi‐squared analysis yielded a statistically significant association between gender and training period for FTLs (p = 0.004), but no statistically significant difference between race and training period.ConclusionsThe post‐NRMP period saw an expansion of laryngology fellowships and workforce diversification, reflecting trends observed in otolaryngology and medicine overall.Level of EvidenceNA Laryngoscope, 135:794–800, 2025
Changes in cortical thickness along the Alzheimer disease continuum in people with Down syndrome
Kennedy, James Tyler, Dincer, Aylin , Thippabhotla, Sharmila, Roman, June, Boerwinkle, Anna H. , Chen, Charles D., Price, Julie C. , Sathishkumar, Mithra , McMillan, Liv , Laymon, Charles M. , Krinsky‐McHale, Sharon J. , Lai, Florence , Rosas, H. Diana , Lott, Ira T. , Silverman, Wayne , Chhatwal, Jasmeer P. , Chui, Helena C., Farlow, Martin R. , Graff‐Radford, Neill R. , Mori, Hiroshi , Perrin, Richard J. , Salloway, Stephen , Xiong, Chengjie , Mapstone, Mark , Christian, Bradley T. , Network, Dominantly Inherited Alzheimer, Wisch, Julie K. , Gordon, Brian A. , Flores, Shaney , Benzinger, Tammie L.S. , Klunk, William E. , Rafii, Michael S. , O’Bryant, Sid E. , Yassa, Michael A. , Brickman, Adam M. , Lao, Patrick , Hartley, Sigan L. , Zaman, Shahid H. , Lee, Joseph H. , Allegri, Ricardo , Berman, Sarah , Chui, Helena C. , Cruchaga, Carlos , Goate, Alison , Day, Gregory S. , Jucker, Mathias , Lee, Jae‐Hong , Xiong, Chengjie , Martins, Ralph N. , Sánchez‐Valle, Raquel , Karch, Celeste M. , Hassenstab, Jason , McDade, Eric , Bateman, Randall J. , Handen, Benjamin L. , Head, Elizabeth , Ances, Beau M. , Schofield, Peter R.

Mayo Clinic

Alzheimer's & Dementia | December 25, 2023 | Volume: 19 | Issue: S17 | Pages: No page available

10.1002/alz.079932 Get It

AbstractBackgroundTriplication of the APP allele in Down syndrome (DS) leads to excess amyloid production and Alzheimer’s disease (AD) related cognitive decline. Key biomarkers (amyloid, tau, neurodegeneration) can identify pathological processes that occur before clinical symptoms and more precisely stage adults with DS along the AD continuum. Previous research has used changes in cortical thickness (CT) as an indicator of neurodegeneration in autosomal‐dominant AD1, but not DS‐related AD. It is unclear when and where cortical thinning occurs along the AD continuum in DS and if these differences are associated with increasing AD pathology.MethodCross‐sectional analysis compared DS participants from the Alzheimer Biomarkers Consortium‐Down Syndrome (106 amyloid‐/cognitively unimpaired, nonclinical, 20% reserved for receiver‐operating characteristic, ROC, analyses; 45 amyloid+/cognitively unimpaired, preclinical; 27 amyloid+/cognitively impaired, clinical) who had amyloid positron emission tomography and magnetic resonance imaging (MRI). Amyloid positivity was defined using standardized uptake value ratio (partial volume corrected) cortical mean values (1.42/1.19 for PIB/AV452) and impairment was based on consensus diagnosis. CT differences between nonclinical and clinical groups were calculated in FreeSurfer v5.3 for multiple thresholds (p<.05/.01/.005/.001/.0005/.0001) using a cluster‐wise false discovery rate of .001, corrected across hemispheres, after controlling for age and sex. CT values were extracted for each threshold and used in ROC analyses (nonclinical reserved participants compared against preclinical and preclinical compared against clinical) to identify key cortical regions that best discriminated amyloid positivity and between unimpaired and impaired.ResultSignificant decreases in parietal and inferior temporal CT were observed between nonclinical and clinical (Figures 1 and 2). ROC analyses identified regions in the left (threshold .05) and right (threshold .005) hemispheres that best differentiated nonclinical from preclinical. Observed area under the curves (AUCs) of .772 and .830 exceeded those previously reported for autosomal‐dominant AD (.547/.540)1. Analyses differentiating preclinical from clinical observed AUCs of .786 for left (threshold .0005) and .770 for right (threshold .0005) hemispheres.ConclusionCT differences primarily within posterior cortical regions differentiated adults with DS by amyloid status and cognitive impairment. CT differences were more diffuse for amyloid positivity but more focal for impairment.1. Dincer (2020). NeuroImage: Clinical, 28, 102491.2. Su (2019). Alzheimer’s Dement, 11, 180‐190.
Cross‐sectional comparison of the role of tau burden among Down Syndrome Alzheimer disease and autosomal‐dominant Alzheimer disease
Boerwinkle, Anna H. , Henson, Rachel L. , Thippabhotla, Sharmila, Kennedy, James Tyler, Butt, Omar H. , Chen, Charles D., Christian, Bradley T. , Mapstone, Mark , Tudorascu, Dana , Cohen, Annie , Fagan, Anne M. , Price, Julie C. , Schupf, Nicole , Laymon, Charles M. , Krinsky‐McHale, Sharon J. , Lai, Florence , Rosas, H. Diana , Lott, Ira T. , Silverman, Wayne , Chhatwal, Jasmeer P. , Chui, Helena C., Farlow, Martin R. , Graff‐Radford, Neill R. , Mori, Hiroshi , Perrin, Richard J. , Salloway, Stephen , Xiong, Chengjie , Wisch, Julie K. , Gordon, Brian A. , Flores, Shaney , McKay, Nicole S. , Handen, Benjamin L. , Head, Elizabeth , Zammit, Matthew D. , Johnson, Sterling C. , Klunk, William E. , Rafii, Michael S. , O’Bryant, Sid E. , Yassa, Michael A. , Keator, David B. , Hartley, Sigan L. , Zaman, Shahid H. , Lao, Patrick , Brickman, Adam M. , Lee, Joseph H. , Allegri, Ricardo , Berman, Sarah , Chui, Helena C. , Cruchaga, Carlos , Fox, Nick C. , Goate, Alison , Day, Gregory S. , Jucker, Mathias , Lee, Jae‐Hong , Xiong, Chengjie , Martins, Ralph N. , Sánchez‐Valle, Raquel , Schofield, Peter William , Xiong, Chengjie , Schindler, Suzanne E. , Morris, John C. , Karch, Celeste M. , Hassenstab, Jason , Benzinger, Tammie L.S. , McDade, Eric , Bateman, Randall J. , Ances, Beau M.

Mayo Clinic

Alzheimer's & Dementia | December 25, 2023 | Volume: 19 | Issue: S14 | Pages: No page available

10.1002/alz.079102 Get It

AbstractBackgroundAdults with Down Syndrome (DS) develop Alzheimer disease (AD)‐like pathology and dementia as they age. This is attributed to triplication of the amyloid precursor protein gene. Recent work demonstrated that amyloid is elevated in DS and accumulates in a similar topography to autosomal dominant AD (ADAD). Tau accumulation is the second hallmark of AD and may be measured using tau positron emission tomography (PET) imaging. The pattern of tau accumulation remains unknown in DS.MethodIn a cross‐sectional analysis we evaluated amyloid and tau positron emission tomography (PET) in 124 participants with DS (109 cognitively stable, 8 symptomatic, 7 no consensus), 29 ADAD mutation carriers (26 asymptomatic, 3 symptomatic), and 201 cognitively normal non‐mutation carriers (CN). Regional cortical standard uptake value ratios (SUVR) for tau imaging were obtained and compared by cognitive status. Similarly, regional cortical amyloid SUVR were obtained and converted to centiloids. We then compared the magnitude of tau burden as well as spatial spread of tau across groups relative to amyloid burden.ResultCompared to CN, tau PET binding was elevated in participants with (µDS = 2.12 ± 0.22 SUVR, µADAD = 2.52 ± 0.37 SUVR) and without (µDS = 1.24 ± 0.15 SUVR, µADAD = 1.16 ± 0.19 SUVR) cognitive changes. For both groups, tau increased with increasing amyloid (centiloids). In some regions, DS had greater tau burden for a given amyloid level (centiloids) (Figure 1). There was increased spatial distribution of tau throughout the brain for participants with DS compared to CN. In contrast, tau burden was more focal in participants with ADAD with tau primarily elevated in posterior regions (Figure 2).ConclusionWhile tau burden was higher with symptomatic disease for both groups, significant differences existed in the overall amount and spatial spread. Tau spread was greatest in participants with DS and more diffuse compared to ADAD. These results indicate a substantial tau burden is present in DS, and suggest not only anti‐amyloid but also tau‐reducing agents should be considered for treating cognitive decline in adults with DS.