DOCSLIB.ORG

The National Institutes of Health Research Plan on Down Syndrome

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
The National Institutes of Health Research Plan on Down Syndrome Down Syndrome Directions The National Institutes of Health Research Plan on Down Syndrome Down Syndrome Directions National Institutes of Health Research Plan on Down Syndrome U.S. Department of Health and Human Services National Institutes of Health Developed by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and the NIH Down Syndrome Working Group Table of Contents EXECUTIVE SUMMARY ........................................................................................................................................... 1 INTRODUCTION ..................................................................................................................................................... 2 RESEARCH GOALS AND OBJECTIVES ....................................................................................................................... 3 A: PATHOPHYSIOLOGY OF DOWN SYNDROME AND DISEASE PROGRESSION ................................................................................ 3 Shorter Term Objectives ....................................................................................................................................... 3 Longer Term Objectives ........................................................................................................................................ 5 B: DOWN SYNDROME-RELATED CONDITIONS: SCREENING, DIAGNOSIS, AND FUNCTIONAL MEASURES ........................................... 5 Shorter Term Objectives ....................................................................................................................................... 6 Longer Term Objectives ........................................................................................................................................ 7 C: TREATMENT AND MANAGEMENT .................................................................................................................................. 7 Shorter Term Objectives ....................................................................................................................................... 8 Longer Term Objectives ...................................................................................................................................... 10 D: DOWN SYNDROME AND AGING (NEW) ........................................................................................................................ 11 Shorter Term Objectives ..................................................................................................................................... 11 E: RESEARCH INFRASTRUCTURE....................................................................................................................................... 12 Shorter Term Objectives ..................................................................................................................................... 12 Longer Term Objectives ...................................................................................................................................... 14 CONCLUSION ....................................................................................................................................................... 16 APPENDIX A: BIBLIOGRAPHY OF NIH-SUPPORTED PUBLICATIONS SINCE 2007 ..................................................... 18 A: PATHOGENESIS AND DISEASE PROGRESSION .................................................................................................................. 18 Highlights of Progress Since the 2007 Plan ........................................................................................................ 18 B: DOWN SYNDROME-RELATED CONDITIONS: SCREENING, DIAGNOSIS, AND FUNCTIONAL MEASURES ......................................... 28 Highlights of Progress Since the 2007 Plan ........................................................................................................ 28 C: TREATMENT AND MANAGEMENT ................................................................................................................................ 33 Highlights of Progress Since 2007 Plan .............................................................................................................. 33 D: DOWN SYNDROME AND AGING (FORMERLY, LIVING WITH DOWN SYNDROME) .................................................................... 39 Highlights of Progress Since 2007 Plan .............................................................................................................. 39 E: RESEARCH INFRASTRUCTURE....................................................................................................................................... 44 Highlights of Progress Since 2007 Plan .............................................................................................................. 44 APPENDIX B: INPUT INTO DEVELOPMENT OF THE REVISED PLAN ........................................................................ 47 REQUEST FOR INFORMATION (RFI): INVITATION TO COMMENT ON THE DOWN SYNDROME RESEARCH PLAN RELEASED IN 2007 (ISSUED IN 2012) ............................................................................................................................................ 47 SUMMARY OF RESPONSES TO RFI .................................................................................................................................... 50 Pathophysiology of Down Syndrome and Disease Progression .......................................................................... 50 Down Syndrome-Related Conditions: Screening, Diagnosis, and Functional Measures .................................... 51 Treatment and Management ............................................................................................................................. 51 Down Syndrome and Aging ................................................................................................................................ 52 Research Infrastructure ...................................................................................................................................... 52 SUMMARY OF RESPONSES TO PUBLIC COMMENTS ON DRAFT PLAN – SEPTEMBER 2014 ............................................................ 53 Pathophysiology of Down Syndrome and Disease Progression.......................................................................... 54 Down Syndrome-Related Condition: Screening, Diagnosis, and Functional Measures ...................................... 55 Treatment and Management ............................................................................................................................. 55 Down Syndrome and Aging ................................................................................................................................ 56 i Research Infrastructure ...................................................................................................................................... 57 Other Comments ................................................................................................................................................ 57 APPENDIX C: RESEARCH-RELATED MEETINGS SINCE 2007 .................................................................................... 59 DOWN SYNDROME: NATIONAL CONFERENCE ON PATIENT REGISTRIES, RESEARCH DATABASES, AND BIOBANKS ............................. 59 WORKSHOP ON COGNITION IN DOWN SYNDROME: MOLECULAR, CELLULAR, AND BEHAVIORAL FEATURES AND THE PROMISE OF PHARMACOTHERAPIES .................................................................................................................... 59 WORKSHOP: ADVANCING TREATMENTS FOR ALZHEIMER’S DISEASE IN INDIVIDUALS WITH DOWN SYNDROME ............................... 59 Executive Summary ............................................................................................................................................ 59 Strengths of Current Strategies .......................................................................................................................... 60 Weaknesses of Current Strategies ...................................................................................................................... 61 Things To Be Done Right Now ............................................................................................................................ 61 Longer Term Objectives ...................................................................................................................................... 62 APPENDIX D: RELEVANT WEBSITES ...................................................................................................................... 63 APPENDIX E: CONGRESSIONAL DIRECTIVES ON DOWN SYNDROME SINCE 2007 .................................................. 65 FISCAL YEAR 2014 (SENATE REPORT 113-071) ................................................................................................................ 65 FISCAL YEAR 2013 (SENATE REPORT 112-176) ................................................................................................................ 65 FISCAL YEAR 2012 (SENATE REPORT 112-084) ................................................................................................................ 65 FISCAL YEAR 2011 (SENATE REPORT 111-243) ................................................................................................................ 65 FISCAL YEAR 2010 (SENATE REPORT 111-066) ...............................................................................................................
Load more

Recommended publications
  • Dynamics of Plasma Biomarkers in Down Syndrome: the Relative Levels of Aβ42 Decrease with Age, Whereas NT1 Tau and Nfl Increase
    Dynamics of plasma biomarkers in Down syndrome: the relative levels of Aβ42 decrease with age, whereas NT1 tau and NfL increase David Mengel University of Tuebingen Wen Liu Brigham and Women's Hospital Robert J. Glynn Brigham and Women's Hospital Dennis J. Selkoe Brigham and Women's Hospital Andre Strydom King's College London Florence Lai Massachusetts General Hospital H. Diana Rosas Massachusetts General Hospital Amy Torres Massachusetts General Hospital Vasiliki Patsiogiannis Massachusetts General Hospital Brian Skotko Massachusetts General Hospital Dominic Walsh ( [email protected] ) Brigham and Women's Hospital and Harvard Medical School Research Keywords: Alzheimer’s disease, amyloid, Down syndrome, dementia, neurolament light, Simoa Posted Date: January 29th, 2020 DOI: https://doi.org/10.21203/rs.2.18106/v2 Page 1/23 License: This work is licensed under a Creative Commons Attribution 4.0 International License. Read Full License Version of Record: A version of this preprint was published at Alzheimer's Research and Therapy on March 19th, 2020. See the published version at https://doi.org/10.1186/s13195-020-00593-7. Page 2/23 Abstract Background Down syndrome (DS) is the most common genetic cause of Alzheimer’s Disease (AD), but diagnosis of AD in DS is challenging due to the intellectual disability which accompanies DS. When disease-modifying agents for AD are approved, reliable biomarkers will be required to identify when and how long people with DS should undergo treatment. Three cardinal neuropathological features characterize AD, and AD in DS – Aβ amyloid plaques, tau neurobrillary tangles, and neuronal loss. Here, we quantied plasma biomarkers of all 3 neuropathological features in a large cohort of people with DS aged from 3 months to 68 years.
    [Show full text]
  • Modelling Down Syndrome
    UPDATES GENetICS AND COGNITIVE NeuROSCIENCE Modelling Down syndrome Frank Buckley Animal models are extensively used in genetics, neuroscience and biomedical research. Recent studies illustrate the usefulness and the challenges of research utilising genetically engineered mice to explore the developmental biology of Down syndrome. These studies highlight many of the issues at the centre of what we understand about Down syndrome, and may one day point to useful ways to improve quality of life for people living with Down syndrome. All people diagnosed with Down syn- drome have an extra copy of at least part of chromosome 21 in at least some of their cells. Most have a complete additional copy of chromosome 21 in every cell (BOX 1). These extra copies of genes, present from the point of conception, begin a complex cascade of consequences that depend (among other things) on the addi- tional genes from chromosome 21, other genes on other chromosomes, anatomical location, developmental progress and the environment. The precise details of how these processes work and interact are not clearly understood. Such questions lie at the heart of modern genetics and cogni- tive neuroscience research. Complex systems The organism of choice for much of modern biomedical research is The molecular biology of just a single cell the mouse. Several genetically engineered strains have been made to is complicated (FIGURE 1) and modelling complex systems is difficult[1,2]. Describing study the biology of Down syndrome. how disruptions in gene ‘doses’ at the cel- lular level in people with Down syndrome Box 1 | The genetics of Down syndrome contribute to (for example) particular dif- ficulties in verbal short-term memory[3] or Approximately 95% of people with Down syndrome have an additional copy of comparatively slower progress in language a whole chromosome 21 in every cell [4] development than reading development (trisomy 21).
    [Show full text]
  • Evaluation of Antioxidant Activity in the Erythrocytes in Patients with Down Syndrome
    PRACA ORYGINALNA/ORIGINAL ARTICLE Evaluation of antioxidant activity in the erythrocytes in patients with Down syndrome Ocena aktywności antyoksydacyjnej w erytocytach u pacjentów z zespołem Downa Magdalena Cholewa, Joanna Śmigielska-Kuzia, Krzysztof Sendrowski, Beata Olchowik, Anna Jakubiuk-Tomaszuk, Marta Nędzi Klinika Neurologii i Rehabilitacji Dziecięcej Uniwersytetu Medycznego w Białymstoku, STRESZCZENIE ABSTRACT Celem pracy byla ocena aktywności enzymów antyoksyda- The aim of this study was to evaluate the activity of antioxi- cyjnch: dysmutazy ponadtlenkowej (SOD), peroksydazy glu- dant enzymes: superoxide dismutase (SOD), glutathione per- tationowej (GSH-Px), reduktazy glutationowej (GSSG-R) oraz oxidase (GSH-Px), glutathione reductase (GSSG-R) and serum stężenia dialdehydu malonowego (MDA) w erytrocytach osób malondialdehyde (MDA) levels in the erythrocytes in patients z zespołem Downa (ZD). Materiał i metody. Badaniem objęto with Down syndrome (DS). Materials and methods. The study grupę 66 pacjentów (24 dzieci i 42 dorosłych )z trisomią 21 pary included 66 patients (24 children and 42 adults) with Trisomy chromosomów. Grupę kontrolną stanowiło 59 osób zdrowych 21. The control group consisted of 59 healthy individuals (24 (24 dzieci i 35 dorosłych). Aktywność SOD, GSH-Px, GSSG-R children and 35 adults). The activity of SOD, GSH-Px, GSSG-R oraz stężenie MDA w erytrocytach oznaczono metodami spek- and MDA levels in erythrocytes were determined spectro- trofotometrycznymi. Wyniki. Wykazano wyższą aktywność photometrically. Results. We found a greater activity, which enzymów antyoksydacyjnych: SOD, GSH-Px, GSSG-R u osób decreased with age, of antioxidant enzymes: SOD, GSH-Px, z ZD w porównaniu do grupy kontrolnej, która malała wraz GSSG-R in patients with DS compared with the control group.
    [Show full text]
  • S41598-021-85062-3.Pdf
    www.nature.com/scientificreports OPEN Genetic dissection of down syndrome‑associated alterations in APP/amyloid‑β biology using mouse models Justin L. Tosh1,2, Elena R. Rhymes1, Paige Mumford3, Heather T. Whittaker1, Laura J. Pulford1, Sue J. Noy1, Karen Cleverley1, LonDownS Consortium*, Matthew C. Walker4, Victor L. J. Tybulewicz2,5, Rob C. Wykes4,6, Elizabeth M. C. Fisher1* & Frances K. Wiseman3* Individuals who have Down syndrome (caused by trisomy of chromosome 21), have a greatly elevated risk of early‑onset Alzheimer’s disease, in which amyloid‑β accumulates in the brain. Amyloid‑β is a product of the chromosome 21 gene APP (amyloid precursor protein) and the extra copy or ‘dose’ of APP is thought to be the cause of this early‑onset Alzheimer’s disease. However, other chromosome 21 genes likely modulate disease when in three‑copies in people with Down syndrome. Here we show that an extra copy of chromosome 21 genes, other than APP, infuences APP/Aβ biology. We crossed Down syndrome mouse models with partial trisomies, to an APP transgenic model and found that extra copies of subgroups of chromosome 21 gene(s) modulate amyloid‑β aggregation and APP transgene‑associated mortality, independently of changing amyloid precursor protein abundance. Thus, genes on chromosome 21, other than APP, likely modulate Alzheimer’s disease in people who have Down syndrome. Down syndrome (DS), which occurs in approximately 1 in 1000 births, is the most common cause of early-onset Alzheimer’s disease-dementia (AD-DS)1. Approximately 6 million people have DS world-wide and by the age of 65 two-thirds of these individuals will have a clinical dementia diagnosis.
    [Show full text]
  • Oxidative Stress in Portuguese Children with Down Syndrome
    Down Syndrome Research and Practice 8(2), 79-82 79 Oxidative stress in Portuguese children with Down syndrome Monica Pinto1, 2, 3, Joaquim Neves2, Miguel Palha1,3 and Manuel Bicho2 1 Unidade de Desenvolvimento, Serviço de Pediatria, Hospital de Santa Maria, Lisboa, Portugal 2 Laboratório de Genética da Faculdade de Medicina de Lisboa, Hospital de Santa Maria, Lisboa, Portugal 3 Associação Portuguesa de Portadores de Trissomia 21 (APPT21), Portugal Abstract - Background - Individuals with Down syndrome have an accelerated process of ageing which is thought to be associated with oxidative stress. Aim - Since Zn/Cu superoxide dismutase is increased by about 50% in children with Down syndrome, glutathione and other less known antioxidant mechanisms were studied to determine whether there were changes in reactive oxygen species. Methods - Plasma reduced and oxidised glutathione and red blood cells enzymes including acid phosphatase, methemoglobin reductase and transmembrane reductase were evaluated in Portu- guese children with Down syndrome and their siblings, who were used as a control group. Results - No significant differences were found between the study and control groups. A nega- tive correlation was noted between total glutathione and acid phosphatase in the siblings without Down syndrome, but not in the children with Down syndrome. Conclusion - Although it is claimed that the production of hydrogen peroxide is enhanced in children with Down syndrome, their antioxidant mechanisms do not seem to be significantly dif- ferent compared with their siblings. This may result in an excess of reactive oxygen species that could help to explain accelerated ageing in children with Down syndrome. Further studies will be needed to shed light on these mechanisms.
    [Show full text]
  • A Curative Perspective on Down Syndrome
    Journal of Intellectual Disability - Diagnosis and Treatment, 2019, 7, 77-85 77 A Curative Perspective on Down Syndrome Jean A. Rondal* University of Liège, Department of Cognitive Sciences, Building 32, Sart Tilman, Liège 4000, Belgium Abstract: A curative perspective on Down syndrome is pointing out. Experimental work regarding chromosome correction and corrective action on genes and proteins is yielding positive results. They open the way to advances in dealing with aneuploidies and may end up markedly changing the life of the individuals affected with these conditions At the same time, several molecules are in the research pipeline of cognitive pharmacotherapy. The paper summarizes these advances and set them into perspective for the future of Down syndrome. Research on the effects of the amyloid cascade in the etiology of Alzheimer disease, which is more frequent in aging persons with Down syndrome, is also analyzed. Its potential for improving early diagnosis and paving the way for stabilizing the condition at least in the first stages is also discussed. Keywords: Aneuploidies, Down syndrome, genetic therapy, cognitive pharmacotherapy, Alzheimer disease. INTRODUCTION The paper discusses current experimental work in molecular genetics and cognitive pharmacology with a Human trisomies constitute a significant health direct bearing on the biology of the condition. These problem. Down syndrome (DS) is the most common studies open the way to a genuine curative perspective autosomal trisomy (chromosome 21) occurring in for people affected with Down syndrome approximately 1 in 700 live births. Increased protein levels due to gene triplication determine a constellation In recent years medical research has made possible of developmental abnormalities involving the nervous to alleviate and in many cases remedy to several of the system, the heart, and the intestinal system.
    [Show full text]
  • (12) United States Patent (10) Patent N0.: US 7,285,526 B2 Maroun (45) Date of Patent: Oct
    US007285526B2 (12) United States Patent (10) Patent N0.: US 7,285,526 B2 Maroun (45) Date of Patent: Oct. 23, 2007 (54) INTERFERON ANTAGONISTS USEFUL FOR Le Page, C. et al., (2000), “Interferon activation and innate immu THE TREATMENT OF INTERFERON nity”, Reviews in Immunogenetics, 2:374-386. RELATED DISEASES Blasko, I. et al., (1999), “TNFot plus IFNy induce the production of Alzheimer [5-amyloid peptides and decrease the secretion of APPS”, (75) Inventor: Leonard E. Maroun, Lawrence, MA The FASEB Journal, 13:63-68. Gringeri, A. et al., (1999), “Active Anti-Interferon-ot Immunization: (Us) A European-Israeli, Randomized, Double-Blind, Placebo-Con trolled Clinical Trial in 242 HIV-l-Infected Patients (the EURIS (73) Assignee: Meiogen Biotechnology Corporation, Study)”, Journal of Acquired Immune De?ciency Syndrome and Beverly, MA (U S) Human Retrovirology, 20(4):358-370. Akwa, Y. et al., (1998), “Transgenic Expression of IFN-OL in the ( * ) Notice: Subject to any disclaimer, the term of this Central Nervous System of Mice Protects Against Lethal patent is extended or adjusted under 35 Neurotropic Viral Infection but Induces In?ammation and U.S.C. 154(b) by 0 days. Neurodegeneration”, The Journal ofImmunology, 161:5016-5026. Maroun, L.E. et al., (1998), “The Untoward Side Effects of Inter (21) Appl. No.: 10/284,740 feron Therapy Correlate Well with the Spectrum of Symptoms that Make Up the Down Syndrome”, Down Syndrome Research and (22) Filed: Oct. 31, 2002 Practice, 5(3): 143-147. Wiseman, B.F. et al., (1997), “Interferon and trisomy 16 mouse fetal (65) Prior Publication Data heart development and function”, Cytogenet Cell Genet, 77(Suppl.
    [Show full text]
  • Rodent Models in Down Syndrome Research: Impact and Future Opportunities Yann Herault1,2,3,4,5,*, Jean M
    © 2017. Published by The Company of Biologists Ltd | Disease Models & Mechanisms (2017) 10, 1165-1186 doi:10.1242/dmm.029728 REVIEW Rodent models in Down syndrome research: impact and future opportunities Yann Herault1,2,3,4,5,*, Jean M. Delabar5,6,7,8, Elizabeth M. C. Fisher5,9,10, Victor L. J. Tybulewicz5,10,11,12, Eugene Yu5,13,14 and Veronique Brault1,2,3,4 ABSTRACT significantly impairs health and autonomy of affected individuals Down syndrome is caused by trisomy of chromosome 21. To date, a (Khoshnood et al., 2011; Parker et al., 2010). Despite the wide multiplicity of mouse models with Down-syndrome-related features availability of prenatal diagnosis since the mid-1960s (Summers has been developed to understand this complex human et al., 2007) and the introduction of maternal serum screening in chromosomal disorder. These mouse models have been important 1984 (Inglis et al., 2012), the incidence of DS has not necessarily for determining genotype-phenotype relationships and identification decreased (Natoli et al., 2012; Loane et al., 2013; de Graaf et al., of dosage-sensitive genes involved in the pathophysiology of the 2016); in fact, prevalence is going up, largely because of increased condition, and in exploring the impact of the additional chromosome lifespan and maternal age (which is the single biggest risk factor) on the whole genome. Mouse models of Down syndrome have (Sherman et al., 2007; Loane et al., 2013). also been used to test therapeutic strategies. Here, we provide an A core set of features characterises most cases of DS, including overview of research in the last 15 years dedicated to the specific cognitive disabilities, hypotonia (Box 1) at birth and development and application of rodent models for Down syndrome.
    [Show full text]
  • National Institutes of Health Research Plan on Down Syndrome
    A revised plan was published in 2014; this archived document is provided for reference only. National Institutes of Health Research Plan on Down Syndrome October 2007 U.S. DEPARTMENT OF HEALTH AND HUMAN SERVICES (HHS) National Institutes of Health (NIH) Plan Developed by the NIH Down Syndrome Working Group A revised plan was published in 2014; this archived document is provided for reference only. A revised plan was published in 2014; this archived document is provided for reference only. TABLE OF CONTENTS EXECUTIVE SUMMARY .......................................................................................................... 1 SELECTED NIH RESEARCH OBJECTIVES ...................................................................................... 1 INTRODUCTION AND BACKGROUND................................................................................. 2 BACKGROUND ON DOWN SYNDROME .......................................................................................... 2 HIGHLIGHTS OF ONGOING RESEARCH ON DOWN SYNDROME AT THE NIH...... 3 NATIONAL CANCER INSTITUTE (NCI).......................................................................................... 3 NATIONAL HEART, LUNG, AND BLOOD INSTITUTE (NHLBI)....................................................... 4 NATIONAL INSTITUTE ON AGING (NIA)....................................................................................... 5 NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES (NIAID) ................................... 6 NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT
    [Show full text]
  • The Draft of the NIH INCLUDE Down Syndrome Research Plan
    NIH INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE (INCLUDE) Down Syndrome Research Plan 2021 Draft: 02/10/2021 National Institutes of Health (NIH) U.S. Department of Health and Human Services (HHS) Table of Contents EXECUTIVE SUMMARY ......................................................................................................................................... 1 INTRODUCTION ....................................................................................................................................................... 2 PORTFOLIO ANALYSIS .......................................................................................................................................... 3 GOALS AND OBJECTIVES: 2021 NIH INCLUDE DOWN SYNDROME RESEARCH PLAN...................... 4 A. BASIC RESEARCH ................................................................................................................................................. 4 Expand Basic Research Approaches .................................................................................................................... 4 Expand Basic Research on Down Syndrome-Alzheimer’s Disease (DS-AD)....................................................... 5 Develop Model Systems for DS-AD Research ...................................................................................................... 6 Program Portrait 1: Basic Research ................................................................................................................................
    [Show full text]
  • Paving the Way for Therapy
    Paving the Way for Therapy 2nd International Conference of the Trisomy 21 Research Society June 7-11, 2017 Feinberg Conference Center, Northwestern Memorial Hospital Chicago, IL USA Founding Sponsors of T21RS 1 Paving the Way for Therapy 2nd International Conference of the Trisomy 21 Research Society June 7-11, 2017 Feinberg Conference Center, Northwestern Memorial Hospital Chicago, IL USA Conference Organizers Roger Reeves, PhD Mara Dierssen, MD, PhD Johns Hopkins University School of CRG – Center for Genomic Medicine Regulation Jean Delabar, PhD John O’Bryan, PhD CNRS-ICM University of Illinois Chicago Scientific Program Committee Mara Dierssen, MD, PhD - Chair Anita Bhattacharyya, PhD CRG-Center for Genomic Regulation University of Wisconsin-Madison Cynthia Lemere, PhD Jean Delabar, PhD Harvard Medical School CNRS-ICM Dean Nizetic, MD, PhD Jorge Busciglio, PhD Nanyang Technological University University of California-Irvine Singapore Nicole Schupf, PhD, DrPH Pablo Caviedes, MD, PhD Columbia University Medical Center University of Chile Deny Menghini, PhD Bambino Gesu Children's Hospital 2 3 Annette Karmiloff-Smith Thesis Award Program COMPETITION FOR OUTSTANDING PH.D. THESIS Application Deadline: June 30, 2018 Prizes will be awarded for up to 2 outstanding doctoral dissertations. Each recipient will receive an honorarium of 1,000 Euros. The topic of the dissertation must be in the field of Down syndrome Eligibility Participation in the 2017 competition is limited to candidates who obtained the Ph.D. title during the period January 1, 2016-December 31, 2017. Applicants must be members of T21RS (www.t21rs.org/register). Required Documentation Documentation accompanying the application must be submitted exclusively in an email to [email protected] in PDF format and must be written in English.
    [Show full text]
  • Alzheimer's Disease in Individuals with Down Syndrome
    Alzheimer’s disease in Individuals with Down Syndrome Janis McGillick, MSW, LNHA Dolan Memory Care Homes Director of Community Engagements Formerly with the Alzheimer’s Association – St. Louis Board Member- Association on Aging with Developmental Disabilities Dementia • Umbrella term: Not a single disease- wide range of medical conditions • Changes thinking, memory, judgment, behavior and feelings • Can be temporary but often permanent • Affects learning and language • Results in significant difficulty in daily function • Develops most commonly in persons over 80 • Caused by plaques and tangles in brain • Varies from person to person • Describes the “what”. Diagnosis gets to the “why”. • Wellness and Strengths = new Understanding dementia Dementia Reversible dementias Frontotemporal dementia Vascular dementia Lewy body disease Alzheimer's disease 3 Alcohol, drugs, medication interactions Depression, delirium Emotional disorders Metabolic disorders (e.g., hypothyroidism) Eye and ear impairments Nutritional (e.g., B12 deficiency) Tumors Infections Alcohol, drugs, medication interactions Down Syndrome • Trisomy 21 • 30,000 genes code biological blueprint • 400 or more genes on chromosome 21 • Affects learning, language, and memory • Varies person to person • Gains in well-being and longevity • By 40 plaques and tangles- role of beta-amyloid fragments • Increased risk of dementia • Few with DS would have DIAN Early Warning Signs of Alzheimer’s disease in persons with Down Syndrome Change from Baseline Reduced Sociability Decreased enthusiasm Decline in attention Sad, fearful, anxious Irritable., uncooperative, aggressive Restless Sleep disturbed New seizures Decreased coordination and mobility How the brain works . There are 100 billion nerve cells, or neurons, creating a branching network . Signals traveling through the neuron forest form memories, thoughts and feelings .
    [Show full text]