62 datasets found
  1. Incidence of Down syndrome in the United States as of 2024, by age

    • statista.com
    Updated Oct 11, 2024
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    Statista (2024). Incidence of Down syndrome in the United States as of 2024, by age [Dataset]. https://www.statista.com/statistics/1497382/down-syndrome-incidence-by-age-us/
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    Dataset updated
    Oct 11, 2024
    Dataset authored and provided by
    Statistahttp://statista.com/
    Area covered
    United States
    Description

    Older women are at an increased risk of having a child with Down syndrome. For example, among women aged 20 years, the chances of conceiving a child with Down syndrome is about one in 2,000. In comparison, among women aged 49 years, the chances of conceiving a child with Down syndrome is about one in 10. This statistic shows the incidence of Down syndrome in the United States as of 2024, by maternal age.

  2. d

    Compendium - Chromosomal abnormalities/congenital malformations

    • digital.nhs.uk
    csv, xlsx
    Updated Jul 29, 2015
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    (2015). Compendium - Chromosomal abnormalities/congenital malformations [Dataset]. https://digital.nhs.uk/data-and-information/publications/statistical/compendium-public-health/current/chromosomal-abormalities-congential-malformations
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    csv(2.5 kB), xlsx(32.8 kB)Available download formats
    Dataset updated
    Jul 29, 2015
    License

    https://digital.nhs.uk/about-nhs-digital/terms-and-conditionshttps://digital.nhs.uk/about-nhs-digital/terms-and-conditions

    Time period covered
    Jan 1, 2011 - Dec 31, 2013
    Area covered
    Wales, England
    Description

    Percent of terminations with Down's syndrome by maternal age. This is based on data supplied by the National Down's Syndrome Cytogenetic Register (NDSCR). Screening for fetal anomaly is offered to all eligible pregnant women in England to check the baby for fetal anomalies, Down’s syndrome, Edwards’ syndrome and Patau’s syndrome. This publication supports further understanding of incidence rates of Down’s syndrome in England. Legacy unique identifier: P00444

  3. Global Down syndrome prevalence rate in 1990 and 2019, by gender

    • statista.com
    Updated Oct 15, 2024
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    Statista (2024). Global Down syndrome prevalence rate in 1990 and 2019, by gender [Dataset]. https://www.statista.com/statistics/1498090/global-down-syndrome-prevalence-rate-by-gender/
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    Dataset updated
    Oct 15, 2024
    Dataset authored and provided by
    Statistahttp://statista.com/
    Area covered
    Worldwide
    Description

    In 2019, the global age-standardized prevalence rate of Down syndrome was around 21.51 per 100,000 population. The prevalence rate of Down syndrome is slightly higher among males than females. This statistic shows the age-standardized prevalence rate of Down syndrome worldwide in 1990 and 2019, by gender.

  4. Global Down syndrome prevalence rate in 1990 and 2019, by region

    • statista.com
    Updated Oct 15, 2024
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    Statista (2024). Global Down syndrome prevalence rate in 1990 and 2019, by region [Dataset]. https://www.statista.com/statistics/1498089/global-down-syndrome-prevalence-rate-by-region/
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    Dataset updated
    Oct 15, 2024
    Dataset authored and provided by
    Statistahttp://statista.com/
    Area covered
    Worldwide
    Description

    In 2019, the global age-standardized prevalence rate of Down syndrome was around 21.51 per 100,000 population. At that time, the prevalence rate of Down syndrome was highest in Southern Latin America and Western Europe, with around 65 cases per 100,000 population. This statistic shows the age-standardized prevalence rate of Down syndrome worldwide in 1990 and 2019, by region.

  5. f

    Table3_Global, Regional, and National Burden and Trends of Down Syndrome...

    • frontiersin.figshare.com
    xlsx
    Updated Jun 16, 2023
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    Liyuan Chen; Lifei Wang; Yi Wang; Haishan Hu; Yuan Zhan; Zhilin Zeng; Lidan Liu (2023). Table3_Global, Regional, and National Burden and Trends of Down Syndrome From 1990 to 2019.XLSX [Dataset]. http://doi.org/10.3389/fgene.2022.908482.s004
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    xlsxAvailable download formats
    Dataset updated
    Jun 16, 2023
    Dataset provided by
    Frontiers
    Authors
    Liyuan Chen; Lifei Wang; Yi Wang; Haishan Hu; Yuan Zhan; Zhilin Zeng; Lidan Liu
    License

    Attribution 4.0 (CC BY 4.0)https://creativecommons.org/licenses/by/4.0/
    License information was derived automatically

    Description

    Introduction: Down syndrome (DS) is the leading cause of genetically defined intellectual disability and congenital birth defects worldwide. A large population of people diagnosed with DS globally is posing an enormous socioeconomic burden. However, the global burden and trends of DS have not been reported.Methods: Based on the data from the Global Burden of Disease database in 2019, we analyzed the incidence, prevalence, disability-adjusted life years (DALYs), and death of DS from 1990 to 2019 according to sex, age, regions, and social-demographic index (SDI). Then, age-standardized rates (ASRs) and estimated annual percentage change (EAPC) of these aforementioned indexes were calculated to evaluate the temporal trend of DS. Finally, the association of SDI with DS epidemiological parameters was assessed.Results: In the past 30 years, the incident cases, age-standardized incident rate (ASIR), and age-standardized prevalent rate (ASPR) of DS first decreased slightly and subsequently increased globally. The number of prevalent cases increased steadily, while the number and age-standardized rate (ASRs) of DALYs and deaths decreased gradually from 1990 to 2019. In the meantime, disease burdens were different across various SDI regions. The prevalent cases and ASPR for both sexes were increasing in all SDI regions except for the high-middle SDI region. At the national level, Brunei Darussalam, Ireland, and Haiti were the top three countries with the highest ASIR in 2019. Georgia was in the top three with the highest increase in ASRs of four parameters, while Serbia was consistently ranked in the top three with fastest declining. Furthermore, we found that ASIR and ASPR were positively correlated with SDI, yet the age-standardized DALYs and age-standardized death rate (ASDR) were negatively correlated with SDI.Conclusion: In the past 30 years, the burden and trends of DS were heterogeneous across different regions and countries with different sociodemographic characteristics. Great improvements had been achieved in reducing DALYs and deaths globally. However, the increased number and ASRs of incident and prevalent cases in some regions, especially in low SDI regions, were contributing to numerous challenges to public health. The findings may provide valuable information to the development or implementation of more effective measures.

  6. Rate of chromosome (gene) malformation birth defects in the U.S. 2016-2020,...

    • statista.com
    Updated Oct 14, 2024
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    Statista (2024). Rate of chromosome (gene) malformation birth defects in the U.S. 2016-2020, by age [Dataset]. https://www.statista.com/statistics/1497838/chromosome-gene-malformation-birth-defects-rate-by-age/
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    Dataset updated
    Oct 14, 2024
    Dataset authored and provided by
    Statistahttp://statista.com/
    Area covered
    United States
    Description

    In the period 2016-2020, babies born to women aged 40 years and older in the United States had the highest rates of Down syndrome, with around 121 babies born with this defect per 10,000 live births. Down syndrome is a genetic condition that can affect how the brain and body develop and is the most common chromosomal condition in the United States. This statistic shows the rate of select chromosome (gene) malformation birth defects in the United States from 2016 to 2020, by age.

  7. d

    Compendium - Chromosomal abnormalities/congenital malformations

    • digital.nhs.uk
    xls
    Updated Jul 30, 2014
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    (2014). Compendium - Chromosomal abnormalities/congenital malformations [Dataset]. https://digital.nhs.uk/data-and-information/publications/statistical/compendium-public-health/current/chromosomal-abormalities-congential-malformations
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    xls(49.2 kB), xls(29.7 kB), xls(44.5 kB)Available download formats
    Dataset updated
    Jul 30, 2014
    License

    https://digital.nhs.uk/about-nhs-digital/terms-and-conditionshttps://digital.nhs.uk/about-nhs-digital/terms-and-conditions

    Time period covered
    Jan 1, 2009 - Dec 31, 2011
    Area covered
    England
    Description

    Notifications of live and still born babies with Down's syndrome.This is based on data supplied by the British Isles Network of Congenital Anomaly Registers (BINOCAR). Screening for fetal anomaly is offered to all eligible pregnant women in England to check the baby for fetal anomalies, Down’s syndrome, Edwards’ syndrome and Patau’s syndrome. This publication supports further understanding of incidence rates of Down’s syndrome in England. Legacy unique identifier: P00440

  8. f

    Additional file 1: of Disentangling the roles of maternal and paternal age...

    • springernature.figshare.com
    txt
    Updated Feb 12, 2024
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    James Thompson (2024). Additional file 1: of Disentangling the roles of maternal and paternal age on birth prevalence of Down syndrome and other chromosomal disorders using a Bayesian modeling approach [Dataset]. http://doi.org/10.6084/m9.figshare.8032247.v2
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    txtAvailable download formats
    Dataset updated
    Feb 12, 2024
    Dataset provided by
    figshare
    Authors
    James Thompson
    License

    Attribution 4.0 (CC BY 4.0)https://creativecommons.org/licenses/by/4.0/
    License information was derived automatically

    Description

    Model 1. Maternal Age Random-walk (CAR). OpenBUGS code and data that can be used to repeat the analyses for Model 1. (TXT 1 kb)

  9. d

    Incidence of Down syndrome: percent (%) cases diagnosed prenatally by...

    • digital.nhs.uk
    Updated Jul 29, 2015
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    (2015). Incidence of Down syndrome: percent (%) cases diagnosed prenatally by maternal age, 3-year average, P [Dataset]. https://digital.nhs.uk/data-and-information/publications/statistical/compendium-public-health/current/chromosomal-abormalities-congential-malformations
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    Dataset updated
    Jul 29, 2015
    License

    https://digital.nhs.uk/about-nhs-digital/terms-and-conditionshttps://digital.nhs.uk/about-nhs-digital/terms-and-conditions

    Description

    Legacy unique identifier: P00443

  10. d

    Incidence of Down syndrome: percent (%) of known outcomes in which pregnancy...

    • digital.nhs.uk
    Updated Jul 29, 2015
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    (2015). Incidence of Down syndrome: percent (%) of known outcomes in which pregnancy was terminated by maternal age, 3-year average, P [Dataset]. https://digital.nhs.uk/data-and-information/publications/statistical/compendium-public-health/current/chromosomal-abormalities-congential-malformations
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    Dataset updated
    Jul 29, 2015
    License

    https://digital.nhs.uk/about-nhs-digital/terms-and-conditionshttps://digital.nhs.uk/about-nhs-digital/terms-and-conditions

    Description

    Legacy unique identifier: P00444

  11. f

    Additional file 5: of Disentangling the roles of maternal and paternal age...

    • springernature.figshare.com
    txt
    Updated Feb 12, 2024
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    James Thompson (2024). Additional file 5: of Disentangling the roles of maternal and paternal age on birth prevalence of Down syndrome and other chromosomal disorders using a Bayesian modeling approach [Dataset]. http://doi.org/10.6084/m9.figshare.8032280.v2
    Explore at:
    txtAvailable download formats
    Dataset updated
    Feb 12, 2024
    Dataset provided by
    figshare
    Authors
    James Thompson
    License

    Attribution 4.0 (CC BY 4.0)https://creativecommons.org/licenses/by/4.0/
    License information was derived automatically

    Description

    Linear. Fully conditional modeling of maternal and paternal ages as linear. OpenBUGS code and data that can be used to repeat the analyses for maternal and paternal ages as linear. (TXT 65 kb)

  12. Global Down syndrome death rate in 1990 and 2019, by region

    • statista.com
    Updated Oct 15, 2024
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    Statista (2024). Global Down syndrome death rate in 1990 and 2019, by region [Dataset]. https://www.statista.com/statistics/1498107/global-down-syndrome-death-rate-by-region/
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    Dataset updated
    Oct 15, 2024
    Dataset authored and provided by
    Statistahttp://statista.com/
    Area covered
    Worldwide
    Description

    In 2019, the global age-standardized death rate for Down syndrome was around 0.3 per 100,000 population. At that time, the death rate for Down syndrome was highest in Tropical Latin America, with around 0.7 deaths per 100,000 population. The most common cause of death for adults and children with Down syndrome is respiratory infection. This statistic shows the age-standardized death rate for Down syndrome worldwide in 1990 and 2019, by region.

  13. f

    Table 1_Global, regional, and national impact of Down syndrome on child and...

    • frontiersin.figshare.com
    csv
    Updated Apr 24, 2025
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    Erdengqieqieke Ye; Erman Wu; Rui Han (2025). Table 1_Global, regional, and national impact of Down syndrome on child and adolescent mortality from 1980 to 2021, with projections to 2050: a cross-sectional study.csv [Dataset]. http://doi.org/10.3389/fpubh.2025.1554589.s001
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    csvAvailable download formats
    Dataset updated
    Apr 24, 2025
    Dataset provided by
    Frontiers
    Authors
    Erdengqieqieke Ye; Erman Wu; Rui Han
    License

    Attribution 4.0 (CC BY 4.0)https://creativecommons.org/licenses/by/4.0/
    License information was derived automatically

    Description

    IntroductionDown syndrome, resulting from trisomy 21, is a prevalent genetic disorder. Despite improvements in life expectancy and quality of life due to medical progress, children and adolescents (under the age of 20 years) with Down syndrome still face higher mortality rates. Future research is essential to elucidate the epidemiological patterns and trends in Down syndrome among children and adolescents, enabling the development of effective prevention and intervention strategies to improve survival and health outcomes.MethodsThis study draws on Global Burden of Disease (GBD) 2021 mortality data for children and adolescents with Down syndrome. Pearson’s correlation coefficient was leveraged to assess the relationship between Down syndrome mortality and the Socio-demographic Index (SDI). The estimated annual percentage change (EAPC) in mortality was calculated to track temporal trends, and the Bayesian age-period-cohort (BAPC) model was employed to forecast future mortality.ResultsOver the past 42 years, there have been fluctuations in mortality among children and adolescents with Down syndrome. Globally, deaths have decreased by 22.8% from 26.95 thousand (95% uncertainty interval [UI], 10.10–74.66 thousand) in 1980 to 20.81 thousand (95% UI, 14.18–36.49 thousand) in 2021. Furthermore, BAPC model projections indicate a sustained reduction in mortality for children and adolescents with Down syndrome. Predominantly, deaths occur in 0–4 age group, with higher death rates in Low SDI regions, and notably, the number and rate of female patients exceed those of male patients. Intriguingly, a negative correlation was observed between death rates and higher SDI.ConclusionMost countries have seen a decline in Down syndrome deaths among children and adolescents over the last 42 years, but a few high SDI countries are witnessing an increase. Future health interventions should prioritize these countries, focusing on resource allocation, infrastructure, and health education. Continued efforts on care for the 0–4 age group with Down syndrome are crucial to further reducing deaths in this age group.

  14. l

    Data from: Data-set for "A community-based strength training program...

    • opal.latrobe.edu.au
    • researchdata.edu.au
    xlsx
    Updated May 15, 2024
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    Nora Shields; Nicholas Taylor; Bo Fernhall (2024). Data-set for "A community-based strength training program increases muscle strength and physical activity in young people with Down syndrome: a randomized controlled trial" [Dataset]. http://doi.org/10.26181/5f0bc43db3927
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    xlsxAvailable download formats
    Dataset updated
    May 15, 2024
    Dataset provided by
    La Trobe
    Authors
    Nora Shields; Nicholas Taylor; Bo Fernhall
    License

    Attribution 4.0 (CC BY 4.0)https://creativecommons.org/licenses/by/4.0/
    License information was derived automatically

    Description

    This dataset contains observational data recorded during a student-led progressive resistance training (PRT) program in adolescents and young adults with Down syndrome. Sixty-eight young people with Down syndrome (30 female, 38 male; mean age 17.9±2.6 years) and mild to moderate intellectual disability were randomly allocated to a PRT program (n=34) or a social group (n=34). Participants in the PRT group trained twice a week for 10 weeks at a community gymnasium with a physiotherapy student mentor using pin-loaded weight machines. Participants in the social group completed a 10-week program of social activities also with a student mentor once a week for 90 minutes. Work performance, muscle strength and physical activity levels were assessed at weeks 0, 11 and 24 by an assessor blind to group allocation. Data were analysed using ANCOVA with baseline measures as covariate. Participants attended 92% of their scheduled sessions. There was no difference between the groups on work task performance. The PRT group increased their upper and lower limb strength at week 11 compared to the control group, but only their lower limb muscle strength at week 24. There was a significant difference in physical activity levels in favour of the PRT group at week 24 but not at week 11. PRT using a student mentor model helps young people with Down syndrome become stronger and more physically active but its effect on work task performance is unclear.

  15. Global Down syndrome death rate in 1990 and 2019, by gender

    • statista.com
    Updated Oct 15, 2024
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    Statista (2024). Global Down syndrome death rate in 1990 and 2019, by gender [Dataset]. https://www.statista.com/statistics/1498105/global-down-syndrome-death-rate-by-gender/
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    Dataset updated
    Oct 15, 2024
    Dataset authored and provided by
    Statistahttp://statista.com/
    Area covered
    Worldwide
    Description

    In 2019, the global age-standardized death rate for Down syndrome was around 0.3 per 100,000 population. The most common cause of death for adults and children with Down syndrome is respiratory infection. This statistic shows the age-standardized death rate for Down syndrome worldwide in 1990 and 2019, by gender.

  16. f

    Additional file 6: of Disentangling the roles of maternal and paternal age...

    • springernature.figshare.com
    txt
    Updated Feb 12, 2024
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    James Thompson (2024). Additional file 6: of Disentangling the roles of maternal and paternal age on birth prevalence of Down syndrome and other chromosomal disorders using a Bayesian modeling approach [Dataset]. http://doi.org/10.6084/m9.figshare.8032286.v2
    Explore at:
    txtAvailable download formats
    Dataset updated
    Feb 12, 2024
    Dataset provided by
    figshare
    Authors
    James Thompson
    License

    Attribution 4.0 (CC BY 4.0)https://creativecommons.org/licenses/by/4.0/
    License information was derived automatically

    Description

    Curvilinear. Fully conditional modeling of maternal and paternal ages as curvilinear. OpenBUGS code and data that can be used to repeat the analyses for maternal and paternal ages as curvilinear. (TXT 66 kb)

  17. Northern Ireland Census 2021 - MS-D09: Type of long-term condition:...

    • statistics.ukdataservice.ac.uk
    pdf, xlsx
    Updated Feb 23, 2023
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    Office for National Statistics; National Records of Scotland; Northern Ireland Statistics and Research Agency; UK Data Service. (2023). Northern Ireland Census 2021 - MS-D09: Type of long-term condition: Intellectual or learning disability (for example Down syndrome) by broad age bands [Dataset]. https://statistics.ukdataservice.ac.uk/dataset/northern-ireland-census-2021-ms-d09-long-term-condition-intellectual-disability-by-broad-age-bands
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    pdf, xlsxAvailable download formats
    Dataset updated
    Feb 23, 2023
    Dataset provided by
    Office for National Statisticshttp://www.ons.gov.uk/
    UK Data Servicehttps://ukdataservice.ac.uk/
    Northern Ireland Statistics and Research Agency
    Authors
    Office for National Statistics; National Records of Scotland; Northern Ireland Statistics and Research Agency; UK Data Service.
    License

    Open Government Licence 3.0http://www.nationalarchives.gov.uk/doc/open-government-licence/version/3/
    License information was derived automatically

    Area covered
    Northern Ireland, Ireland
    Description

    This dataset provides Census 2021 estimates that classify usual residents in Northern Ireland by long-term condition: intellectual or learning disability, and by broad age bands. The estimates are as at census day, 21 March 2021.

    The census collected information on the usually resident population of Northern Ireland on census day (21 March 2021). Initial contact letters or questionnaire packs were delivered to every household and communal establishment, and residents were asked to complete online or return the questionnaire with information as correct on census day. Special arrangements were made to enumerate special groups such as students, members of the Travellers Community, HM Forces personnel etc. The Census Coverage Survey (an independent doorstep survey) followed between 12 May and 29 June 2021 and was used to adjust the census counts for under-enumeration.

    Data are available for Northern Ireland and the 11 Local Government Districts.

  18. r

    Data from: Socioeconomic, ethnocultural, substance- and cannabinoid- related...

    • researchdata.edu.au
    Updated Aug 15, 2023
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    UWA Medical School; Albert Stuart Reece; Albert Reece (2023). Socioeconomic, ethnocultural, substance- and cannabinoid- related epidemiology of Down syndrome USA 1986-2016 dataset: An ecological geotemporospatial and causal inference investigation [Dataset]. http://doi.org/10.17632/TN46TDHC4C.2
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    Dataset updated
    Aug 15, 2023
    Dataset provided by
    Edith Cowan University
    Authors
    UWA Medical School; Albert Stuart Reece; Albert Reece
    License

    Attribution 4.0 (CC BY 4.0)https://creativecommons.org/licenses/by/4.0/
    License information was derived automatically

    Area covered
    United States
    Description

    Background. Downs syndrome (DS) is the commonest of the congenital genetic defects. Its incidence has been rising in recent years for unknown reasons. Objective. Investigate the relationship of DS to substance- and cannabinoid- exposure; and causality.

    Methods. Observational ecological population-based epidemiological study 1986-2016. Analysis performed January 2020. Geotemporospatial and causal inference analysis.

    Participants: Patients were diagnosed with DS and reported to state based registries; collated nationally. Data source: annual reports of National Birth Defects Prevention Network of Centres for Disease Control.

    Exposures: Drug exposure was taken from the National Survey of Drug Use and Health (NSDUH) conducted annually by Substance Abuse and Mental Health Services Administration. Nationally representative sample 67,000 participants annually. Drug exposures: cigarette consumption, alcohol abuse, analgesic/opioid abuse, cocaine use and last month cannabis use. Ethnicity and median household income: US Census Bureau. Maternal age of childbearing: CDC births registries. Cannabinoid concentrations: Drug Enforcement Agency seizures.

    Results. NSDUH report 74.1% mean annual response rate. All other data was population-wide. DS rate (DSR) was noted to be rising over time, cannabis use, and cannabis-use quintile. In the optimal geospatial model lagged to four years terms including Δ9-tetrahydrocannabinol and cannabigerol were significant (from β-est.=4189.96 (95%C.I. 1924.74, 6455.17), P=2.9x10-4). Ethnicity, income, and maternal age covariates were not significant. DSR in states where cannabis was not illegal was higher than elsewhere (β-est.=2.160 (1.5, 2.82), R.R.=1.81 (1.51, 2.16), P=4.7x10-10). In inverse probability-weighted mixed models terms including cannabinoids were significant (from β-estimate=18.82 (16.82, 20.82), P

    Conclusions. Our data show that the association between DSR and substance- and cannabinoid- exposure is robust to multivariable geotemporospatial adjustment, implicate particularly cannabigerol and Δ9-tetrahydrocannabinol, and fulfil causal crietria. Cannabis legalization was associated with elevated DSR’s. These findings are consistent with those from Hawaii, Colorado, Canada and Australia and concordant with several cellular mechanisms. Given that the cannabis industry is presently in a rapid growth-commercialization phase the present findings linking cannabis use with megabase scale genotoxicity suggest unrecognized DS risk factors, are of public health importance and suggest that re-focussing the cannabis debate on multigenerational and intergenerational health concerns is prudent.

  19. o

    Data from: Widespread domain-like perturbations of DNA methylation in whole...

    • omicsdi.org
    Updated Apr 5, 2018
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    (2018). Widespread domain-like perturbations of DNA methylation in whole blood of Down syndrome neonates. [Dataset]. https://www.omicsdi.org/dataset/biostudies/S-EPMC5877863
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    Dataset updated
    Apr 5, 2018
    Variables measured
    Unknown
    Description

    Down syndrome (DS) is the most frequent genetic cause of intellectual disability. Despite the fact that more than 50 years have passed since the discovery of its genetic aberrations, the exact pathogenesis of the DS phenotype has remained largely unexplained. It was recently hypothesized that the DS pathogenesis involves complex (epi)genetic, molecular and cellular determinants. To date, many reports have addressed epigenetic aberrations associated with DS at different developmental stages/ages and tissue types, but to our best knowledge not in DS newborns. This study aimed to investigate genome-wide methylation patterns in DS newborns compared to non-trisomic newborns.We analyzed blood samples obtained from ten newborns with DS and five age-matched non-trisomic newborns. Epigenetic profiles were obtained from extracted DNA using the Illumina Infinium 450K array. Since aberrant blood cell distribution is known to be present in DS, we applied two distinct models: with and without correction for estimated blood cell distribution.Differentially methylated position (DMP) analysis of the uncorrected model detected 19525 significant hits (51,2% hypomethylated). In the corrected model, we found 121953 significant DMPs (49,8% hypomethylated). Independent of the used model we observed a chromosome 21 dosage effect. Moreover, we detected 46 and 145 differentially methylated regions in the uncorrected and corrected model respectively, both showing hypomethylation overrepresentation. Replication analyses of DMPs and DMRs found by Bacalini et al. (2015) showed a large overlap.In this study, we found methylation profile differences between DS newborns and controls reflecting a systematically affected epigenetic profile. The observed chromosome 21 dosage effect suggests the involvement of affected essential regulatory factors/regions or altered expression of chromatin modeling enzymes located on chromosome 21. Additional research is necessary to substantiate these hypotheses.

  20. c

    Social Implications of One-Stop First Trimester Prenatal Screening,...

    • datacatalogue.cessda.eu
    • beta.ukdataservice.ac.uk
    Updated Nov 28, 2024
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    Hundt, G., University of Warwick, School of Health and Social Studies (2024). Social Implications of One-Stop First Trimester Prenatal Screening, 2002-2003 [Dataset]. http://doi.org/10.5255/UKDA-SN-5180-1
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    Dataset updated
    Nov 28, 2024
    Dataset provided by
    Institute of Health
    Authors
    Hundt, G., University of Warwick, School of Health and Social Studies
    Area covered
    England
    Variables measured
    Individuals, Subnational
    Measurement technique
    Postal survey
    Description

    Abstract copyright UK Data Service and data collection copyright owner.


    In 2003, the offer of screening for foetal abnormality and particularly Down’s syndrome became a routine part of antenatal care in the UK for the first time. The 2003 NICE antenatal care guidelines state that 'all pregnant women should be offered screening for Down’s syndrome with a policy that provides a minimum detection rate of 75% with a false-positive rate no greater than 3% by 2007', indicating a move to first trimester screening technologies which achieve this greater level of accuracy.

    Thus the findings of this study of the only NHS site in England offering combined first trimester screening in a one-stop clinic setting are of particular relevance at this time and has provided the opportunity to look at the implications of an IHT (Innovative Health Technology) prior to wide-scale implementation in the UK. The study findings raise questions about the implications for non-directiveness and informed decision-making of the resulting routinisation of screening, and the shift from an ‘opt-in’ to an ‘opt-out’ service.

    The implications of the introduction of a routine offer of screening for Down’s syndrome in the first trimester of pregnancy raises new issues for women and their partners, for the organisation and management of screening and for society. The development of prenatal screening technologies is a contested and politically charged arena with ethical and public policy considerations.

    In the light of the above concerns, the study aimed to explore:
  21. the impact of new screening technologies on the social management of pregnancy, service delivery and professional roles

  22. participants’ broader responses to the new reproductive technologies, and views about routinisation of screening

  23. perceptions of self, the foetus, and the management of reproductive risk


  24. The qualitative aspect of this study has not been deposited along with the quantitative data, as the staff interviewed could be identified as the NHS unit was the only place in the country which conducted this type of work at the time of the study.
    Main Topics:

    This study contains data from childbearing women over the age of 18 who completed a prenatal and postnatal questionnaire, with additional questions about amniocentesis for those who were offered the test.

    The data cover: details of pregnancy; information, decisions and facts about screening; having the screening test; scans; feelings and worries pre- and postnatal; views pre- and postnatal; previous pregnancies; demographic information; information about the baby and the birth.

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Statista (2024). Incidence of Down syndrome in the United States as of 2024, by age [Dataset]. https://www.statista.com/statistics/1497382/down-syndrome-incidence-by-age-us/
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Incidence of Down syndrome in the United States as of 2024, by age

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Dataset updated
Oct 11, 2024
Dataset authored and provided by
Statistahttp://statista.com/
Area covered
United States
Description

Older women are at an increased risk of having a child with Down syndrome. For example, among women aged 20 years, the chances of conceiving a child with Down syndrome is about one in 2,000. In comparison, among women aged 49 years, the chances of conceiving a child with Down syndrome is about one in 10. This statistic shows the incidence of Down syndrome in the United States as of 2024, by maternal age.

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