Most cited papers in Down syndrome and intellectual disability research
What are the most cited papers in Down syndrome and intellectual disability research?
The most cited paper in Down syndrome and intellectual disability research is "Adult outcome for children with autism" (Patricia Howlin, Susan M. Goode, Jane Hutton et al., 2004), with 1,812 citations. Next come "Prevalence of intellectual disability: A meta-analysis of population-based studies" (1,804) and "Alzheimer's disease and Down's syndrome: Sharing of a unique cerebrovascular amyloid fibril protein" (1,696).
Showing 50 of 100 papers. Every paper with more than 411 citations is listed.
| # | Paper | ||
|---|---|---|---|
| 1 | Adult outcome for children with autism Patricia Howlin, Susan M. Goode, Jane Hutton et al. · Journal of Child Psychology and Psychiatry | 22 Jan 2004 | 1,812 |
| 2 | Prevalence of intellectual disability: A meta-analysis of population-based studies Pallab Kumar Maulik, Maya Nina Mascarenhas, Colin Douglas Mathers et al. · Research in Developmental Disabilities | 14 Jan 2011 | 1,804 |
| 3 | Alzheimer's disease and Down's syndrome: Sharing of a unique cerebrovascular amyloid fibril protein George G. Glenner, Caine W. Wong · Biochemical and Biophysical Research Communications | Aug 1984 | 1,696 |
| 4 | Mental ill-health in adults with intellectual disabilities: prevalence and associated factors Sally‐Ann Cooper, Elita Smiley, Jillian M. Morrison et al. · The British Journal of Psychiatry | 29 Dec 2006 | 1,336 |
| 5 | Down's syndrome Nancy Roizen, David W. Patterson · The Lancet | Apr 2003 | 1,335 |
| 6 | ICF linking rules: an update based on lessons learned Alarcos Cieza, Szilvia Geyh, Somnath Chatterji et al. · Journal of Rehabilitation Medicine | Jul 2005 | 1,320 |
| 7 | Costs of Autism Spectrum Disorders in the United Kingdom and the United States Ariane Buescher, Zuleyha Cidav, Martin Richard John Knapp et al. · Archives of Pediatrics and Adolescent Medicine | 9 Jun 2014 | 1,313 |
| 8 | Health Supervision for Children With Down Syndrome Marilyn J. Bull · PEDIATRICS | 26 Jul 2011 | 1,240 |
| 9 | Prevalence and risk of violence against children with disabilities: a systematic review and meta-analysis of observational studies Lisa Jones, Mark A Bellis, Sara K. Wood et al. · The Lancet | 12 Jul 2012 | 1,236 |
| 10 | The impact of behaviour problems on caregiver stress in young people with autism spectrum disorders Luc Lecavalier, Sarah L. Leone, James Wiltz · Journal of Intellectual Disability Research | 21 Sep 2005 | 1,173 |
| 11 | The Genetic Defect Causing Familial Alzheimer's Disease Maps on Chromosome 21 Peter St George‐Hyslop et al. · Science | 20 Feb 1987 | 1,163 |
| 12 | Premature mortality in autism spectrum disorder Tatja Hirvikoski, Ellenor Mittendorfer‐Rutz, Marcus Boman et al. · The British Journal of Psychiatry | 6 Nov 2015 | 1,026 |
| 13 | Assessing Psychiatric Impairment in Primary Care with the Sheehan Disability Scale Andrew C. Leon, Mark Olfson, Laura Portera et al. · The International Journal of Psychiatry in Medicine | Jun 1997 | 1,000 |
| 14 | Prevalence, comorbidity, disability and service utilisation Gavin Andrews, Scott Henderson, Wayne Hall · The British Journal of Psychiatry | Feb 2001 | 959 |
| 15 | DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study Glenn E. Palomaki, Edward M. Kloza, Geralyn M. Lambert-Messerlian et al. · Genetics in Medicine | 15 Oct 2011 | 946 |
| 16 | Down syndrome Stylianos E. Antonarakis, Brian G. Skotko, Michael S. Rafii et al. · Nature Reviews Disease Primers | 6 Feb 2020 | 932 |
| 17 | A mouse model for Down syndrome exhibits learning and behaviour deficits Roger H. Reeves, Nicholas G. Irving, Timothy H. Moran et al. · Nature Genetics | Oct 1995 | 929 |
| 18 | Epidemiology of Autism Spectrum Disorders in Adults in the Community in England Traolach Sean Brugha, Sally McManus, John Bankart et al. · Archives of General Psychiatry | 2 May 2011 | 911 |
| 19 | Risks of leukaemia and solid tumours in individuals with Down's syndrome Henrik Hasle, Inge Haunstrup Clemmensen, Margareta Mikkelsen · The Lancet | 2000 | 905 |
| 20 | Mortality associated with Down's syndrome in the USA from 1983 to 1997: a population-based study Quanhe Yang, Sonja A. Rasmussen, Jan M. Friedman · The Lancet | Mar 2002 | 851 |
| 21 | Down syndrome phenotypes: the consequences of chromosomal imbalance. Julie R. Korenberg, X N Chen, Roberton D. Schipper et al. · Proceedings of the National Academy of Sciences | 24 May 1994 | 801 |
| 22 | A cascade of disparities: Health and health care access for people with intellectual disabilities Gloria L. Krahn, Laura Louise Hammond, Anne M. Turner · Mental Retardation and Developmental Disabilities Research Reviews | 2006 | 779 |
| 23 | Chromosome 21 and Down syndrome: from genomics to pathophysiology Stylianos E. Antonarakis, Robert Lyle, Emmanouil T. Dermitzakis et al. · Nature Reviews Genetics | Oct 2004 | 725 |
| 24 | NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21 Joseph R. Arron, Monte M. Winslow, Alberto Polleri et al. · Nature | 22 Mar 2006 | 710 |
| 25 | The prevalence of challenging behaviors: a total population study Eric Emerson, Chris Kiernan, Alison Alborz et al. · Research in Developmental Disabilities | 2001 | 703 |
| 26 | Prevalence of psychiatric disorders in children and adolescents with and without intellectual disability Eric Emerson · Journal of Intellectual Disability Research | 2003 | 700 |
| 27 | Risk markers associated with challenging behaviours in people with intellectual disabilities: a meta‐analytic study Karen A. McClintock, Scott S. Hall, Chris Oliver · Journal of Intellectual Disability Research | 15 Aug 2003 | 676 |
| 28 | Behavioral phenotype of individuals with Down syndrome Robin S. Chapman, Linda J. Hesketh · Mental Retardation and Developmental Disabilities Research Reviews | 2000 | 663 |
| 29 | Down Syndrome Marilyn J. Bull · New England Journal of Medicine | 10 Jun 2020 | 659 |
| 30 | Prevalence and risk of violence against adults with disabilities: a systematic review and meta-analysis of observational studies Karen E Hughes, Mark A Bellis, Lisa Jones et al. · The Lancet | 28 Feb 2012 | 646 |
| 31 | Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation Francois Waldeck Rousseau, Dominique Heitz, Valérie Biancalana et al. · New England Journal of Medicine | 12 Dec 1991 | 643 |
| 32 | An Overview of Intellectual Disability: Definition, Diagnosis, Classification, and Systems of Supports (12th ed.) Robert L. Schalock, Ruth A. Luckasson, Marc J. Tassé · American Journal on Intellectual and Developmental Disabilities | 26 Oct 2021 | 621 |
| 33 | Toward a Common Language for Function, Disability, and Health Alan M. Jette · Physical Therapy | May 2006 | 621 |
| 34 | Parenting stress in mothers of children with an intellectual disability: the effects of parental cognitions in relation to child characteristics and family support Richard Hassall, John Rose, Jennifer N. McDonald · Journal of Intellectual Disability Research | 11 Apr 2005 | 614 |
| 35 | IQ in children with autism spectrum disorders: data from the Special Needs and Autism Project (SNAP) Tony Charman, Andrew R. Pickles, Emily A. Simonoff et al. · Psychological Medicine | 19 May 2010 | 607 |
| 36 | The Confidential Inquiry into premature deaths of people with intellectual disabilities in the UK: a population-based study Pauline Heslop, Peter Sinclair Blair, Peter Fleming et al. · The Lancet | 10 Dec 2013 | 607 |
| 37 | Sequence of Deposition of Heterogeneous Amyloid β-Peptides and APO E in Down Syndrome: Implications for Initial Events in Amyloid Plaque Formation Cynthia Ann Lemere, Jan Krzysztof Blusztajn, Hiroki Yamaguchi et al. · Neurobiology of Disease | Feb 1996 | 594 |
| 38 | A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome Frances K. Wiseman, Tamara Al‐Janabi, John Hardy et al. · Nature reviews. Neuroscience | 5 Aug 2015 | 587 |
| 39 | The concept of quality of life: what we know and do not know Robert L. Schalock · Journal of Intellectual Disability Research | Mar 2004 | 586 |
| 40 | Mental health of children and adolescents with intellectual disabilities in Britain Eric Emerson, Chris Hatton · The British Journal of Psychiatry | 30 Nov 2007 | 586 |
| 41 | A Prospective Study of Alzheimer Disease in Down Syndrome Fangfang Lai, Roger S. Williams · Archives of Neurology | Aug 1989 | 573 |
| 42 | The Co-Morbidity Burden of Children and Young Adults with Autism Spectrum Disorders Isaac S. Kohane, Andrew McMurry, Griffin M. Weber et al. · PLoS ONE | 12 Apr 2012 | 573 |
| 43 | Reliability and validity of the PAS‐ADD Checklist for detecting psychiatric disorders in adults with intellectual disability S Moss, Helen Prosser, Helen Costello et al. · Journal of Intellectual Disability Research | Apr 1998 | 563 |
| 44 | Emotional and behavioral problems in children and adolescents with and without intellectual disability Mariëlle C. Dekker, Hans M. Koot, Jan van der Ende et al. · Journal of Child Psychology and Psychiatry | 28 Oct 2002 | 562 |
| 45 | The Renaming of Mental Retardation : Understanding the Change to the Term Intellectual Disability Robert L. Schalock, Ruth A. Luckasson, Karrie A. Shogren · Intellectual and developmental disabilities | 19 Mar 2007 | 559 |
| 46 | Increased App Expression in a Mouse Model of Down's Syndrome Disrupts NGF Transport and Causes Cholinergic Neuron Degeneration Ahmad Reza Salehi, Jean‐Dominique Delcroix, Pavel V. Belichenko et al. · Neuron | Jul 2006 | 553 |
| 47 | Cognitive Impairments in Patients With Schizophrenia Displaying Preserved and Compromised Intellect Thomas Wesley Weickert, Terry E. Goldberg, James M. Gold et al. · Archives of General Psychiatry | Sep 2000 | 544 |
| 48 | The AASPIRE practice-based guidelines for the inclusion of autistic adults in research as co-researchers and study participants Christina Nicolaidis, Dora Raymaker, Steven K. Kapp et al. · Autism | 3 Apr 2019 | 543 |
| 49 | Epidemiology of Down syndrome Stephanie L. Sherman, Emily Graves Allen, Lora Bean et al. · Mental Retardation and Developmental Disabilities Research Reviews | 2007 | 535 |
| 50 | First and second trimester serum tests with and without first trimester ultrasound tests for Down's syndrome screening S Kate Alldred, Yemisi Takwoingi, Boliang Guo et al. · Cochrane Database of Systematic Reviews | 15 Mar 2017 | 529 |
Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for a field when OpenAlex files it under one of the field's topics; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.