Literature DB >> 33130823

Estimation of the number of people with Down syndrome in Europe.

Gert de Graaf1, Frank Buckley2,3, Brian G Skotko4,5.   

Abstract

We aimed to estimate the nonselective live birth prevalence, actual live birth prevalence, reduction percentage because of selective terminations, and population prevalence for Down syndrome (DS) in European countries. The number of people with DS alive in a country was estimated by first modeling the number of live births of children with DS by year of birth. Subsequently, for these different years of birth, survival curves for people with DS were constructed and then applied to these yearly estimates of live births with DS. For Europe, 2011-2015, we estimate 8,031 annual live births of children with DS, which would have been around 17,331 births annually, absent selective terminations. The estimated reduction of live birth prevalence was, on average, 54%, varying between 0% in Malta and 83% in Spain. As of 2015, we estimate 417,000 people with DS are living in Europe; without elective terminations, there would have been about 572,000 people with DS, which corresponds to a population reduction rate of 27%. Such statistics can be important barometers for prenatal testing trends and resource allocation within countries. Disability awareness initiatives and public policy initiatives can also be better grounded with these more precise estimates.

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Year:  2020        PMID: 33130823      PMCID: PMC7940428          DOI: 10.1038/s41431-020-00748-y

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   5.351


  17 in total

1.  Non-invasive prenatal testing (NIPT) and pregnant women's views on good motherhood: a qualitative study.

Authors:  Elisa Garcia; Lidewij Henneman; Janneke T Gitsels-van der Wal; Linda Martin; Isabel Koopmanschap; Mireille N Bekker; Danielle R M Timmermans
Journal:  Eur J Hum Genet       Date:  2021-08-17       Impact factor: 5.351

2.  Safety, Tolerability, and Immunogenicity of the ACI-24 Vaccine in Adults With Down Syndrome: A Phase 1b Randomized Clinical Trial.

Authors:  Michael S Rafii; Olivier Sol; William C Mobley; Saskia Delpretti; Brian G Skotko; Anna D Burke; Marwan N Sabbagh; Shauna H Yuan; Robert A Rissman; Margaret Pulsifer; Casey Evans; A Carol Evans; Gregory Beth; Nicolas Fournier; Julian A Gray; Antonio Melo Dos Santos; Valerie Hliva; Marija Vukicevic; Marie Kosco-Vilbois; Johannes Streffer; Andrea Pfeifer; Howard H Feldman
Journal:  JAMA Neurol       Date:  2022-06-01       Impact factor: 29.907

Review 3.  Beyond amyloid: Immune, cerebrovascular, and metabolic contributions to Alzheimer disease in people with Down syndrome.

Authors:  Alessandra C Martini; Thomas J Gross; Elizabeth Head; Mark Mapstone
Journal:  Neuron       Date:  2022-04-25       Impact factor: 18.688

4.  Cross-Sectional Exploration of Plasma Biomarkers of Alzheimer's Disease in Down Syndrome: Early Data from the Longitudinal Investigation for Enhancing Down Syndrome Research (LIFE-DSR) Study.

Authors:  James A Hendrix; David C Airey; Angela Britton; Anna D Burke; George T Capone; Ronelyn Chavez; Jacqueline Chen; Brian Chicoine; Alberto C S Costa; Jeffrey L Dage; Eric Doran; Anna Esbensen; Casey L Evans; Kelley M Faber; Tatiana M Foroud; Sarah Hart; Kelsey Haugen; Elizabeth Head; Suzanne Hendrix; Hampus Hillerstrom; Priya S Kishnani; Kavita Krell; Duvia Lara Ledesma; Florence Lai; Ira Lott; Cesar Ochoa-Lubinoff; Jennifer Mason; Jessie Nicodemus-Johnson; Nicholas Kyle Proctor; Margaret B Pulsifer; Carolyn Revta; H Diana Rosas; Tracie C Rosser; Stephanie Santoro; Kim Schafer; Thomas Scheidemantel; Frederick Schmitt; Brian G Skotko; Melissa R Stasko; Amy Talboy; Amy Torres; Kristi Wilmes; Jason Woodward; Jennifer A Zimmer; Howard H Feldman; William Mobley
Journal:  J Clin Med       Date:  2021-04-28       Impact factor: 4.241

5.  What is so complicated about prenatal testing for Down syndrome? A personal view.

Authors:  Louise Bryant
Journal:  Hum Genet       Date:  2021-05-17       Impact factor: 5.881

Review 6.  Stress Responses in Down Syndrome Neurodegeneration: State of the Art and Therapeutic Molecules.

Authors:  Chiara Lanzillotta; Fabio Di Domenico
Journal:  Biomolecules       Date:  2021-02-11

Review 7.  Development of Down Syndrome Research Over the Last Decades-What Healthcare and Education Professionals Need to Know.

Authors:  Karin Windsperger; Stefanie Hoehl
Journal:  Front Psychiatry       Date:  2021-12-14       Impact factor: 4.157

8.  Case Report: Twin Pregnancy Gives Birth to a Girl with Partial Trisomy 21 Mosaicism after in vitro Fertilization and Embryo Transfer.

Authors:  Zhenglong Guo; Bing Kang; Dong Wu; Hai Xiao; Leilei Hao; Bingtao Hao; Shixiu Liao
Journal:  Front Genet       Date:  2022-02-03       Impact factor: 4.599

9.  A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABAA-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome.

Authors:  Celia Goeldner; Priya S Kishnani; Brian G Skotko; Julian Lirio Casero; Joerg F Hipp; Michael Derks; Maria-Clemencia Hernandez; Omar Khwaja; Sian Lennon-Chrimes; Jana Noeldeke; Sabine Pellicer; Lisa Squassante; Jeannie Visootsak; Christoph Wandel; Paulo Fontoura; Xavier Liogier d'Ardhuy
Journal:  J Neurodev Disord       Date:  2022-02-05       Impact factor: 4.025

10.  Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study.

Authors:  Maurike de Groot-van der Mooren; Gert de Graaf; Michel E Weijerman; Mariette J V Hoffer; Jeroen Knijnenburg; Anne-Marie M F van der Kevie-Kersemaekers; Angelique J A Kooper; Els Voorhoeve; Birgit Sikkema-Raddatz; Laura J C M van Zutven; Malgorzata Ilona Srebniak; Karin Huijsdens-van Amsterdam; John J M Engelen; Dominique Smeets; Anton H van Kaam; Martina C Cornel
Journal:  Prenat Diagn       Date:  2021-07-01       Impact factor: 3.050

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