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Proteomic profiles for Alzheimer's disease and mild cognitive impairment among adults with Down syndrome spanning serum and plasma
Melissa E Petersen, Fan Zhang, Nicole Schupf, Sharon J Krinsky-McHale, James Hall, Mark Mapstone, Amrita Cheema, Wayne Silverman, Ira Lott, Michael S Rafii, Benjamin Handen, William Klunk, Elizabeth Head, Brad Christian, Tatiana Foroud, Florence Lai, H Diana Rosas, Shahid Zaman, Beau M Ances, Mei-Cheng Wang, Benjamin Tycko, Joseph H Lee, Sid O'Bryant, Alzheimer's Biomarker Consortium – Down Syndrome (ABC‐DS)
May 26, 2021
INTRODUCTION: Previously generated serum and plasma proteomic profiles were examined among adults with Down syndrome (DS) to determine whether these profiles could discriminate those with mild cognitive impairment (MCI-DS) and...
The Alzheimer's Biomarker Consortium-Down Syndrome
Benjamin L Handen, Ira T Lott, Bradley T Christian, Nicole Schupf, Sid OBryant, Mark Mapstone, Anne M Fagan, Joseph H Lee, Dana Tudorascu, Mei-Cheng Wang, Elizabeth Head, William Klunk, Beau Ances, Florence Lai, Shahid Zaman, Sharon Krinsky-McHale, Adam M Brickman, H Diana Rosas, Annie Cohen, Howard Andrews, Sigan Hartley, Wayne Silverman, Alzheimer's Biomarker Consortium‐Down Syndrome (ABC‐DS)
Aug 28, 2020
INTRODUCTION: Adults with Down syndrome (DS) are at exceptionally high risk for Alzheimer's disease (AD), with virtually all individuals developing key neuropathological features by age 40. Identifying biomarkers of AD...
A modified Cued Recall Test for detecting prodromal AD in adults with Down syndrome.
Sharon J Krinsky-McHale, Sigan Hartley, Christy Hom, Margaret Pulsifer, Isabel CH Clare, Benjamin L Handen, Ira T Lott, Nicole Schupf, Wayne Silverman, Alzheimer's Biomarker Consortium—Down Syndrome (ABC‐DS) Investigators
Oct 03, 2022
INTRODUCTION: The development of valid methods to diagnose prodromal Alzheimer's disease (AD) in adults with Down syndrome (DS) is one of the many goals of the Alzheimer's Biomarkers Consortium-Down Syndrome (ABC-DS). METHODS...
Impact of the COVID-19 pandemic on daily life, mood, and behavior of adults with Down syndrome.
Sigan L Hartley, Victoria Fleming, Brianna Piro-Gambetti, Annie Cohen, Beau M Ances, Michael A Yassa, Adam M Brickman, Benjamin L Handen, Elizabeth Head, Mark Mapstone, Bradley T Christian, Ira T Lott, Eric Doran, Shahid Zaman, Sharon Krinsky-McHale, Fredrick A Schmitt, Christy Hom, Nicole Schupf, ABC-DS Group
Apr 08, 2022
BACKGROUND: The Down syndrome population has been disproportionately affected by Coronavirus 2019 (COVID-19) in terms of experiencing severe illness and death. Societal efforts to curb the spread of COVID-19 may also have taken...
Clinical and biomarker changes of Alzheimer's disease in adults with Down syndrome
Juan Fortea, Eduard Vilaplana, Maria Carmona-Iragui, Bessy Benejam, Laura Videla, Isabel Barroeta, Susana Fernández, Miren Altuna, Jordi Pegueroles, Víctor Montal, Silvia Valldeneu, Sandra Giménez, Sofía González-Ortiz, Laia Muñoz, Teresa Estellés, Ignacio Illán-Gala, Olivia Belbin, Valle Camacho, Liam Reese Wilson, Tiina Annus, Ricardo S Osorio, Sebastián Videla, Sylvain Lehmann, Anthony J Holland, Daniel Alcolea, Jordi Clarimón, Shahid H Zaman, Rafael Blesa, Alberto Lleó
Jul 06, 2020
BACKGROUND: Alzheimer's disease and its complications are the leading cause of death in adults with Down syndrome. Studies have assessed Alzheimer's disease in individuals with Down syndrome, but the natural history of biomarker...
Adult Alzheimer Disease Amyloid beta-Peptides Amyloidosis Apolipoproteins E Biomarkers Case-Control Studies Cognitive Dysfunction Cross-Sectional Studies Down Syndrome Fluorodeoxyglucose F18 Humans Magnetic Resonance Imaging Middle Aged Neurofilament Proteins Positron-Emission Tomography prevalence Spain United Kingdom tau Proteins
Differential Associations of Apolipoprotein E ε4 Genotype With Attentional Abilities Across the Life Span of Individuals With Down Syndrome.
Hana D'Souza, Luke Mason, Kin Y Mok, Carla M Startin, Sarah Hamburg, Rosalyn Hithersay, R Asaad Baksh, John Hardy, Andre Strydom, Michael SC Thomas, London Down Syndrome (LonDownS) Consortium
Oct 05, 2020
IMPORTANCE: Risk of Alzheimer disease (AD) is particularly high for individuals with Down syndrome (DS). The ε4 allele of the apolipoprotein E gene (APOE ε4) is associated with an additional risk for AD. In typical development...
Acute Regression in Down Syndrome.
Benjamin Handen, Isabel Clare, Charles Laymon, Melissa Petersen, Shahid Zaman, Sid O'Bryant, Davneet Minhas, Dana Tudorascu, Stephanie Brown, Bradley Christian
Sep 27, 2021
Background
Acute regression has been reported in some individuals with Down syndrome (DS), typically occurring between the teenage years and mid to late 20s. Characterized by sudden, and often unexplained, reductions in...
Published by: Brain sciences
Acute Regression in Down Syndrome.
Benjamin Handen, Isabel Clare, Charles Laymon, Melissa Petersen, Shahid Zaman, Sid O'Bryant, Davneet Minhas, Dana Tudorascu, Stephanie Brown, Bradley Christian
Nov 09, 2021
BACKGROUND: Acute regression has been reported in some individuals with Down syndrome (DS), typically occurring between the teenage years and mid to late 20s. Characterized by sudden, and often unexplained, reductions in...
The validity and reliability of the CAMDEX-DS for assessing dementia in adults with Down syndrome in Brazil.
Luciana M Fonseca, Glenda G Haddad, Guilherme P Mattar, Melaine C de Oliveira, Sharon S Simon, Laura M Guilhoto, Geraldo F Busatto, Shahid Zaman, Anthony J Holland, Marcelo Q Hoexter, Cassio M Bottino
Jul 06, 2020
OBJECTIVE: Alzheimer's disease occurs at a higher prevalence and an earlier age in individuals with Down syndrome (DS) than typically developing individuals. However, diagnosing dementia in individuals with intellectual...
Increased choroidal thickness in adults with Down syndrome.
Lajos Csincsik, Rachel Nelson, Madeleine J Walpert, Tunde Peto, Anthony Holland, Imre Lengyel
Mar 30, 2021
INTRODUCTION: People with Down syndrome (DS) are particularly susceptible to Alzheimer's disease (AD) due to the triplication of the amyloid precursor protein (APP) gene. In this cross-sectional study, we hypothesized that...
Markers of early changes in cognition across cohorts of adults with Down syndrome at risk of Alzheimer's disease.
Andrew J Aschenbrenner, R Asaad Baksh, Bessy Benejam, Jessica A Beresford-Webb, Antonia Coppus, Juan Fortea, Benjamin L Handen, Sigan Hartley, Elizabeth Head, Judith Jaeger, Johannes Levin, Sandra V Loosli, Anne-Sophie Rebillat, Silvia Sacco, Frederick A Schmitt, Kate E Thurlow, Shahid Zaman, Jason Hassenstab, Andre Strydom
Jun 10, 2021
Introduction
Down syndrome (DS), a genetic variant of early onset Alzheimer's disease (AD), lacks a suitable outcome measure for prevention trials targeting pre-dementia stages.Methods
We used cognitive test data...
Role of tau deposition in early cognitive decline in Down syndrome.
Sigan L Hartley, Benjamin L Handen, Dana Tudorascu, Laise Lee, Annie Cohen, Brianna Piro-Gambetti, Matthew Zammit, William Klunk, Charles Laymon, Shahid Zaman, Beau M Ances, Marwan Sabbagh, Bradley T Christian
Apr 02, 2022
INTRODUCTION: Drawing on the amyloid/tau/neurodegeneration (AT[N]) model, the study examined whether the tau positron emission tomography (PET) biomarker [18F]AV-1451 was associated with episodic memory problems beyond what was...
Acute Regression in Down Syndrome
Benjamin Handen, Isabel Clare, Charles Laymon, Melissa Petersen, Shahid Zaman, Sid O'Bryant, Davneet Minhas, Dana Tudorascu, Stephanie Brown, Bradley Christian
Aug 26, 2021
Background: Acute regression has been reported in some individuals with Down syndrome (DS), typically occurring between the teenage years and mid to late 20s. Characterized by sudden, and often unexplained, reductions in...
Markers of early changes in cognition across cohorts of adults with Down syndrome at risk of Alzheimer's disease.
Andrew J Aschenbrenner, R Asaad Baksh, Bessy Benejam, Jessica A Beresford-Webb, Antonia Coppus, Juan Fortea, Benjamin L Handen, Sigan Hartley, Elizabeth Head, Judith Jaeger, Johannes Levin, Sandra V Loosli, Anne-Sophie Rebillat, Silvia Sacco, Frederick A Schmitt, Kate E Thurlow, Shahid Zaman, Jason Hassenstab, Andre Strydom
Jun 07, 2021
INTRODUCTION: Down syndrome (DS), a genetic variant of early onset Alzheimer's disease (AD), lacks a suitable outcome measure for prevention trials targeting pre-dementia stages. METHODS: We used cognitive test data collected in...
Frontal-subcortical behaviors during Alzheimer's disease in individuals with Down syndrome.
Luciana Mascarenhas Fonseca, Guilherme Prado Mattar, Glenda Guerra Haddad, Aline Souza Gonçalves, André de Queiroz Constantino Miguel, Laura Maria Guilhoto, Shahid Zaman, Anthony J Holland, Cassio Machado de Campos Bottino, Marcelo Queiroz Hoexter
Apr 03, 2019
There is evidence that frontal-subcortical circuits play an important role in the initial presentation of dementia in Down syndrome (DS), including changes in behavior, a decline in working memory and executive dysfunction. We...
Interplay of Ferritin Accumulation and Ferroportin Loss in Ageing Brain
Animesh Alexander Raha, Anwesha Biswas, James Henderson, Subhojit Chakraborty, Anthony Holland, Robert P Friedland, Elizabeta Mukaetova-Ladinska, Shahid Zaman, Ruma Raha-Chowdhury
Mar 18, 2022
Iron accumulates in the ageing brain and in brains with neurodegenerative diseases such as Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD), and Down syndrome (DS) dementia. However, the mechanisms...
Alzheimer’s disease (AD) Down syndrome (DS) Parkinson’s disease (PD) basal ganglia ferritin Hepcidin Locus Coeruleus neurodegeneration Substantia Nigra Alzheimer Disease Brain Cation Transport Proteins Down Syndrome Ferritins Hepcidins Humans Iron Neurodegenerative Diseases Parkinson Disease Protein Aggregates
Pharmacotherapeutic Considerations for Individuals with Down Syndrome
Erik Hefti
Jan 01, 0001
Down syndrome (DS; trisomy 21) is the most common survivable disorder due to aneuploidy. Individuals with DS may experience multiple comorbid health problems including congenital heart defects, endocrine abnormalities, skin and...
Down Syndrome trisomy 21 pharmacotherapeutics Medication Adherence gene dosage effect seizure disorder Leukemia adverse drug reactions Congenital, Hereditary, and Neonatal Diseases and Abnormalities Medicinal and Pharmaceutical Chemistry
Published by: Harrisburg University of Science and Technology
A multi-level developmental approach to exploring individual differences in Down syndrome
Michael SC Thomas, Olatz Ojinaga Alfageme, Hana D'Souza, Prachi A Patkee, Mary A Rutherford, Kin Y Mok, John Hardy, Annette Karmiloff-Smith, LonDownS Consortium
Oct 05, 2020
In this article, we focus on the causes of individual differences in Down syndrome (DS), exemplifying the multi-level, multi-method, lifespan developmental approach advocated by Karmiloff-Smith (1998, 2009, 2012, 2016). We...
Interplay of Ferritin Accumulation and Ferroportin Loss in Ageing Brain
Animesh Alexander Raha, Anwesha Biswas, James Henderson, Subhojit Chakraborty, Anthony Holland, Robert P Friedland, Elizabeta Mukaetova-Ladinska, Shahid Zaman, Ruma Raha-Chowdhury
Jan 28, 2022
Iron accumulates in the ageing brain and in brains with neurodegenerative diseases such as Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD), and Down syndrome (DS) dementia. However, the mechanisms...
Diagnostic and prognostic performance and longitudinal changes in plasma neurofilament light chain concentrations in adults with Down syndrome
Maria Carmona-Iragui, Daniel Alcolea, Isabel Barroeta, Laura Videla, Laia Muñoz, Kathyrn L Van Pelt, Frederick A Schmitt, Donita D Lightner, Lisa M Koehl, Gregory Jicha, Silvia Sacco, Clotilde Mircher, Sarah E Pape, Rosalyn Hithersay, Isabel CH Clare, Anthony J Holland, Georg Nübling, Johannes Levin, Shahid H Zaman, Andre Strydom, Anne-Sophie Rebillat, Elizabeth Head, Rafael Blesa, Alberto Lleó, Juan Fortea
Nov 03, 2021
BACKGROUND: Adults with Down syndrome are at an ultra-high risk of Alzheimer's disease, but diagnosis of Alzheimer's disease in this population is challenging. We aimed to validate the clinical utility of plasma neurofilament...
Impaired Iron Homeostasis and Haematopoiesis Impacts Inflammation in the Ageing Process in Down Syndrome Dementia.
Ruma Raha-Chowdhury, Animesh Alexander Raha, James Henderson, Seyedeh Deniz Ghaffari, Monika Grigorova, Jessica Beresford-Webb, Kieren Allinson, Subhojit Chakraborty, Anthony Holland, Shahid H Zaman
Sep 20, 2021
Down syndrome (DS) subjects are more likely to develop the clinical features of Alzheimer's disease (AD) very early in the disease process due to the additional impact of neuroinflammation and because of activation of innate...
Health comorbidities and cognitive abilities across the lifespan in Down syndrome.
Carla M Startin, Hana D'Souza, George Ball, Sarah Hamburg, Rosalyn Hithersay, Kate MO Hughes, Esha Massand, Annette Karmiloff-Smith, Michael SC Thomas, LonDownS Consortium, Andre Strydom
Oct 05, 2020
BACKGROUND: Down syndrome (DS) is associated with variable intellectual disability and multiple health and psychiatric comorbidities. The impact of such comorbidities on cognitive outcomes is unknown. We aimed to describe...
Cognitive outcomes Down Syndrome Health comorbidities Intellectual Disability Psychiatric comorbidities Receptive language ability Adolescent Adult Aged Aged 80 and over Child Child Preschool Cognition Comorbidity Down Syndrome Female Humans Infant Language Development Disorders longevity Male Mental Disorders Middle Aged Sex Characteristics United Kingdom Young Adult
Visuo-attentional correlates of Autism Spectrum Disorder (ASD) in children with Down syndrome
Jennifer M Glennon, Hana D'Souza, Luke Mason, Annette Karmiloff-Smith, Michael SC Thomas
Oct 05, 2020
BACKGROUND: Children with Down syndrome (DS) are at increased likelihood of Autism Spectrum Disorder (ASD) relative to the general population. To better understand the nature of this comorbidity, we examined the...
Measuring cerebral perfusion with [11C]-PiB R1 in Down syndrome
Elijah Mak, Monika Grigorova, Jessica Beresford-Webb, Maura Malpetti, Madeline Walpert, Stephanie Brown, Elizabeth Jones, Isabel Clare, Young T Hong, Tim D Fryer, Jonathan P Coles, Franklin I Aigbirhio, David K Menon, Peter J Nestor, Anthony J Holland, Shahid H Zaman
Oct 26, 2020
Positron emission tomography imaging of glucose hypometabolism and amyloid deposition are two well-established methods to evaluate preclinical changes in Alzheimer's disease and people with Down syndrome. However, the use of...
PET measurement of longitudinal amyloid load identifies the earliest stages of amyloid-beta accumulation during Alzheimer's disease progression in Down syndrome.
Matthew D Zammit, Dana L Tudorascu, Charles M Laymon, Sigan L Hartley, Shahid H Zaman, Beau M Ances, Sterling C Johnson, Charles K Stone, Chester A Mathis, William E Klunk, Ann D Cohen, Benjamin L Handen, Bradley T Christian
Mar 30, 2021
INTRODUCTION: Adults with Down syndrome (DS) are predisposed to Alzheimer's disease (AD) and reveal early amyloid beta (Aβ) pathology in the brain. Positron emission tomography (PET) provides an in vivo measure of Aβ throughout...
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