Materiały źródłowe

• #1 Epidemiology of Down syndrome – PubMed

  https://pubmed.ncbi.nlm.nih.gov/17910090/

  Down syndrome (DS) is the most commonly identified genetic form of mental retardation and the leading cause of specific birth defects and medical conditions. Traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. DS has been estimated to occur in approximately 1 in 732 infants in the United States, although there is some evidence that variability in prevalence of estimates exist among racial/ethnic groups. […] Studies to examine the variability of the presence of specific DS-associated birth defects and medical conditions provide evidence for genetic and environmental modifiers. Here, we provide a brief survey of studies that address the current state of the field and suggest gaps in research that can soon be filled with new multidisciplinary approaches and technological advances.

• #2

  https://benthamscience.com/public/chapter/8017

  Down syndrome (DS) is the commonest chromosomal disorders in the world; affecting all countries, all races, and both sexes. […] The prevalence of DS could be affected by different factors including distribution of maternal age in the population, adequacy and completeness of ascertainment, accurateness of diagnosis, level of selective prenatal termination of affected pregnancies, as well as different unrecognized genetic and environmental factors. […] Incidence of DS is expected to be significantly high in the developing countries, probably due to the higher death rate from comorbidities in DS such as congenital cardiovascular defects. […] According to World Health Organization; the predictable incidence of DS is between 1 in 1,000 to 1 in 1,100 live births all over the world. […] The difference in prevalence among populations or countries or in the same population over time will depend on the potential risk factors in common for that community.

• #3 World Down Syndrome Day | United Nations

  https://www.un.org/en/observances/down-syndrome-day

  Down syndrome occurs when an individual has an extra partial (or whole) copy of chromosome 21. […] The estimated incidence of Down syndrome is between 1 in 1,000 to 1 in 1,100 live births worldwide. Each year, approximately 3,000 to 5,000 children are born with this chromosome disorder. […] The quality of life of people with Down syndrome can be improved by meeting their health care needs, including regular check-ups with health professionals to monitor mental and physical condition and to provide timely intervention be it physiotherapy, occupational therapy, speech therapy, counselling or special education. […] Individuals with Down syndrome can achieve optimal quality of life through parental care and support, medical guidance, and community based support systems such as inclusive education at all levels.

• #4 Down Syndrome | Birth Defects | CDC

  https://www.cdc.gov/birth-defects/about/down-syndrome.html

  Down syndrome is the most common chromosomal condition diagnosed in the United States. Each year, about 5,700 babies born in the US have Down syndrome. […] We do not know for sure why Down syndrome occurs or how many different factors play a role. […] There are two types of tests available to detect Down syndrome during pregnancy: screening tests and diagnostic tests. A screening test can tell you if your pregnancy has a higher chance of being affected Down syndrome. Screening tests do not provide an absolute diagnosis. […] Diagnostic tests can typically detect if a baby will have Down syndrome, but they carry more risk. Neither screening nor diagnostic tests can predict the full impact of Down syndrome on a baby.

• #5 Down Syndrome: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/943216-overview

  Down syndrome is the most common autosomal abnormality. Approximately 1 in 700 newborns in the United States has Down syndrome, or about 5300 babies annually. Down syndrome accounts for about one third of all moderate and severe mental handicaps in school-aged children. The prevalence of Down syndrome worldwide has increased because of increases in life span. […] Down syndrome can be diagnosed prenatally with amniocentesis, percutaneous umbilical blood sampling (PUBS), chorionic villus sampling (CVS), and extraction of fetal cells from the maternal circulation. It is often diagnosed shortly after birth by recognizing dysmorphic features and the distinctive phenotype. The characteristic morphologic features will be obvious in children older than 1 year. Some dermatologic features increase with advancing age.

• #6 Living with Down Syndrome | Birth Defects | CDC

  https://www.cdc.gov/birth-defects/living-with-down-syndrome/index.html

  Down syndrome is the most common chromosomal condition diagnosed in the United States. […] Each year, about 5,700 babies born in the United States have Down syndrome. This means that Down syndrome occurs in about 1 in every 640 babies. […] The life expectancy of people with Down syndrome increased dramatically between 1960 and 2007. In 1960, on average, persons with Down syndrome lived to be about 10 years old. In 2007, on average, persons with Down syndrome lived to be about 47 years old. […] Between 50 and 65% of all babies born with Down syndrome are also born with a congenital heart defect. […] Compared with children without Down syndrome, children with Down syndrome are at higher risk for certain other medical conditions. Some of the most common conditions include: Hearing loss (up to 75% may be affected), Obstructive sleep apnea, where a person’s breathing temporarily stops while asleep (between 50 and 75%), Ear infections (between 50 and 70% may be affected), Eye diseases, like cataracts (up to 60%), Eye issues requiring glasses (50%), Heart defects present at birth (between 50 and 65%).

• #7 About Down Syndrome | National Down Syndrome Society (NDSS)

  https://ndss.org/about

  According to the Centers for Disease Control and Prevention, approximately one in every 775 babies in the United States is born with Down syndrome, making Down syndrome the most common chromosomal condition. About 5,000 babies with Down syndrome are born in the United States each year. […] Down syndrome occurs in people of all races and economic levels, though older women have an increased chance of having a child with Down syndrome. A 35-year-old woman has about a one in 350 chance of conceiving a child with Down syndrome, and this chance increases gradually to 1 in 100 by age 40. At age 45 the incidence becomes approximately 1 in 30. […] All three types of Down syndrome are genetic conditions (relating to the genes), but only 1% of all cases of Down syndrome have a hereditary component (passed from parent to child through the genes).

• #8 Down Syndrome Market Report 2032: Epidemiology Data, Pipeline Therapies, Latest FDA, EMA, PDMA Approvals by DelveInsight

  https://www.einpresswire.com/article/698367719/down-syndrome-market-report-2032-epidemiology-data-pipeline-therapies-latest-fda-ema-pdma-approvals-by-delveinsight

  According to the DSAGSL organization, approximately 400,000 Americans were diagnosed with Down syndrome in 2022, with around 6,000 babies born with the condition annually in the US. […] As stated by the Minnesota Health Department in 2023, Down syndrome occurs in approximately 1 out of 800 to 1,000 live births in the US and stands as the most prevalent genetic cause of developmental delay. It further delineated three types of Down syndrome: trisomy 21 (nondisjunction), which comprises 95% of cases, translocation, making up about 4%, and mosaicism, accounting for roughly 1%. […] Graaf et al. (2016) reported that in 2015, there were 419,000 individuals with Down syndrome residing in Europe. Additionally, between 2011 and 2015, there were 8,031 annual live births of children with Down syndrome, with a live birth prevalence of 10.1 per 10,000 live births.

• #9 Down Syndrome Surveillance in Canada 2005-2013 – Canada.ca

  https://www.canada.ca/en/public-health/services/publications/healthy-living/down-syndrome-surveillance-2005-2013.html

  The birth prevalence of Down syndrome in Canada (excluding Quebec) has been stable in the last decade, averaging 15.8 per 10,000 total births, between 2005 and 2013. […] The rate of Down syndrome among stillbirths remained relatively stable around 31.2 per 1,000 stillbirths, except for a slight decrease from 2010 to 2012, while the rate among live births remained stable at approximately 13.5 per 10,000 live births between 2005 and 2013. […] The rates of Down syndrome vary among Canadian provinces and territories. Variations in maternal age distributions as well as disparities in access to and utilization of prenatal screening and diagnosis (to ascertain Down syndrome, which may lead to subsequent terminations of pregnancy) likely impact the observed regional differences in rates of Down syndrome.

• #10 Down Syndrome Surveillance in Canada 2005-2013 – Canada.ca

  https://www.canada.ca/en/public-health/services/publications/healthy-living/down-syndrome-surveillance-2005-2013.html

  The birth prevalence of Down syndrome in Canada from 2005 to 2013 has been stable, averaging 15.8 per 10,000 total births. […] Down syndrome rates among stillbirths remained relatively stable, averaging 31.2 per 1,000 stillbirths, except for a slight decrease from 2010 to 2012. […] The rate among live births remained stable at approximately 13.5 per 10,000 live births between 2005 and 2013. […] There are variations in the rates of Down syndrome within Canada. […] Variations observed among provinces and territories between the two rates are likely a reflection of differences in the awareness, availability and utilisation of services for pregnant women, the uptake of prenatal diagnosis for Down syndrome and the proportion of affected pregnancies that are terminated. […] These registered stillbirths account for some of the difference between the expected and observed rates of Down syndrome.

• #11 Down syndrome (also called Trisomy 21) – MN Dept. of Health

  https://www.health.state.mn.us/diseases/cy/downsyndrome.html

  Down syndrome occurs in 1 of 700 live births and is the most common genetic cause of developmental delay. […] Our program has been tracking Down Syndrome among live births in select counties since 2005 and are gradually expanding statewide. […] Using data from Minnesota births between 2014-2018, we found 518 babies were born with Down syndrome, resulting in a rate of 15.6 babies per 10,000 births. Annually, about 104 babies were born with Down syndrome.

• #12 Statistics – Down Syndrome Australia

  https://www.downsyndrome.org.au/about-down-syndrome/statistics/

  Down syndrome is the most commonly occurring chromosomal condition. […] This page presents a range of the latest statistics relevant to Down syndrome in Australia. […] Between 2016 and 2020, there were an estimated 265 births of babies with Down syndrome per year. This means around 1 in every 1,158 babies born in Australia will have Down syndrome. […] However there is no national data collection on the number of people with Down syndrome in Australia. […] The best estimate available is that there are between 13,000-15,000 individuals with Down syndrome in Australia as of 2019. […] These population figures mean that for every 10,000 people there are 5.14 people with Down syndrome. […] For every 1100 babies born in Australia, 1 will have Down syndrome. […] This means there are about 290 babies with Down syndrome born in Australia each year. […] People with Down syndrome live longer, lives than ever. This has gone up a lot in the past 50 years. […] The average Australian with Down syndrome can now expect to live to 60 or more years old. […] In 2019, there were over 10,000 people with Down syndrome in the NDIS.

• #13 Down syndrome | Information & Support | Contact

  https://contact.org.uk/conditions/down-syndrome/

  In the UK, around one in every 1,000 babies is born with Down syndrome. […] Prenatal diagnosis In the UK screening for Down syndrome is routinely offered to all women during pregnancy to identify those who have a higher chance of having a child with the syndrome. […] The schedule of health checks suggested by the Down Syndrome Medical Interest Group can be followed to ensure that problems are identified and treated early.

• #14

  https://www.granthaalayahpublication.org/journals/granthaalayah/article/view/4515

  Downs syndrome and Beta () Thalassemia are commonly prevalent genetic diseases worldwide. […] Maternal age above 35 years significantly increases the chances of a Downs syndrome birth. […] In India, there are approximately 21,000 Downs syndrome births every year. […] Results of the study indicated that prevalence of Downs syndrome is low in India while that of -thalassemia is moderate. […] The correlation between the maternal and paternal ages at the time of birth of a Downs syndrome affected person was determined and the analyses showed that there was a positive correlation. […] Epidemiology of Down syndrome.

• #15 Down Syndrome | Texas DSHS

  https://www.dshs.texas.gov/texas-birth-defects-epidemiology-surveillance/down-syndrome

  About 250,000 people in the United States have Down syndrome. […] Down syndrome does not usually run in families. […] The mental, behavioral and developmental progress of people with Down syndrome varies widely and cannot be predicted before a person is born. […] Currently, the average life expectancy for people with Down syndrome is about 60 years.

• #16 Using an epidemiological approach to examine outcomes affecting young children with Down syndrome and their families

  https://www.down-syndrome.org/en-us/library/research-practice/10/2/using-epidemiological-approach-examine-outcomes-affecting-young-down-syndrome-families

  In considering the epidemiology of Down syndrome, we note that most studies to date have focused on prevalence, mortality-life expectancy, and rates of diseases and syndrome-related health-physical problems, while neglecting many other important issues. […] Currently in the United States, approximately 350,000 people are thought to have Down syndrome. […] Even within the context of a 140-year research history, then, we continue to lack data about many of the basic demographic, health, family, and other characteristics that are associated with having Down syndrome. […] This article presents one approach that may help to fill such gaps. This approach involves using large-scale, epidemiological databases to attain basic information about individuals with Down syndrome. […] Down syndrome is a condition that occurs fairly frequently, is generally diagnosed at or shortly after birth, and involves a condition familiar to professionals and laypersons alike.

• #17 Using an epidemiological approach to examine outcomes affecting young children with Down syndrome and their families

  https://www.down-syndrome.org/en-us/library/research-practice/10/2/using-epidemiological-approach-examine-outcomes-affecting-young-down-syndrome-families

  Although Down syndrome has long been thought to occur once in every 800 to 1,000 births, many studies examining these rates have appeared in recent years. […] Although a complete review is beyond the scope of this article, prevalence rates of Down syndrome continue to hover in the 1/800 to 1/1000 range. […] Considered in the aggregate, however, epidemiological studies document how often Down syndrome occurs, how long these individuals live, and how often they experience many medical and physical problems. […] The time seems ripe to extend this basic information.

• #18 Statistics – Down Syndrome Australia

  https://www.downsyndrome.org.au/about-down-syndrome/statistics/

  Down syndrome is the most commonly occurring chromosomal condition. […] This page presents a range of the latest statistics relevant to Down syndrome in Australia. […] Between 2016 and 2020, there were an estimated 265 births of babies with Down syndrome per year. This means around 1 in every 1,158 babies born in Australia will have Down syndrome. […] However there is no national data collection on the number of people with Down syndrome in Australia. […] The best estimate available is that there are between 13,000-15,000 individuals with Down syndrome in Australia as of 2019. […] These population figures mean that for every 10,000 people there are 5.14 people with Down syndrome. […] For every 1100 babies born in Australia, 1 will have Down syndrome. […] This means there are about 290 babies with Down syndrome born in Australia each year. […] People with Down syndrome live longer, lives than ever. This has gone up a lot in the past 50 years. […] The average Australian with Down syndrome can now expect to live to 60 or more years old. […] In 2019, there were over 10,000 people with Down syndrome in the NDIS.

• #19 Down Syndrome: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/943216-overview

  Occurrence is strongly dependent on maternal age. The incidence of this syndrome at various maternal ages is as follows: 15-29 years – 1 case in 1500 live births; 30-34 years – 1 case in 800 live births; 35-39 years – 1 case in 270 live births; 40-44 years – 1 case in 100 live births; Older than 45 years – 1 case in 50 live births. […] Down syndrome has been reported in people of all races; no racial predilection is known. African American patients with Down syndrome have substantially shorter life spans than White patients with trisomy 21.

• #20 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Down-Syndrome-Epidemiology.aspx

  Down syndrome or Down’s syndrome is a genetic disorder that affects hundreds of babies worldwide. […] Worldwide, the incidence of Down syndrome is estimated to be about one in every 1000 births. In the United States, it is estimated that about 6000 babies are born each year with Down syndrome, which means around one in every 700 babies has the condition. […] Down syndrome can affect individuals of any races or ethnicity and is the most common genetic cause of learning disability. Research has shown a link between advancing maternal age and the risk of Down syndrome developing in babies. […] Women who are aged 35 years or older when they become pregnant have a greater likelihood of giving birth to a baby with Down syndrome than women who are younger than 35 when they become pregnant. However, most babies with Down syndrome are born to women under the age of 35, due to the higher rate of births among women below this age. […] Studies have also shown that older age of the father also increases the risk of Down syndrome in offspring when the mother is aged over 35 (but not in women aged under 35) when she becomes pregnant.

• #21 Down Syndrome: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/943216-overview

  Occurrence is strongly dependent on maternal age. The incidence of this syndrome at various maternal ages is as follows: 15-29 years – 1 case in 1500 live births; 30-34 years – 1 case in 800 live births; 35-39 years – 1 case in 270 live births; 40-44 years – 1 case in 100 live births; Older than 45 years – 1 case in 50 live births. […] Down syndrome has been reported in people of all races; no racial predilection is known. African American patients with Down syndrome have substantially shorter life spans than White patients with trisomy 21.

• #22 Down’s Syndrome (Trisomy 21)

  https://patient.info/doctor/downs-syndrome-trisomy-21

  Down’s syndrome is one of the most common genetic disorders, affecting 1 in 650-1,000. […] The underlying genetic defect is trisomy 21 in 94% of cases. […] Mosaicism (2.4%) and translocations (3.3%) also occur. […] Maternal age is the strongest risk factor for Down’s syndrome and the maternal age-specific risk of having a baby with Down’s syndrome. […] The average maternal age-specific risk was calculated from live births in England and Wales between 1938 and 2010 for each age group and found to be: 0.66 per 1,000 for maternal age under 20 years of age, 0.70 per 1,000 for ages 20-24, 0.84 per 1,000 for ages 25-29, 1.48 per 1,000 for ages 30-34, 4.72 per 1,000 for ages 35-39, 15.22 per 1,000 for ages 40-44, and 30.71 per 1,000 for 45 years and older.

• #23 Down syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Down_syndrome

  Down syndrome is the most common chromosomal abnormality in humans. Globally, as of 2010, Down syndrome occurs in about 1 per 1,000 births and results in about 17,000 deaths. More children are born with Down syndrome in countries where abortion is not allowed and in countries where pregnancy more commonly occurs at a later age. About 1.4 per 1,000 live births in the United States and 1.1 per 1,000 live births in Norway are affected. In the 1950s, in the United States, it occurred in 2 per 1,000 live births with the decrease since then due to prenatal screening and abortions. The number of pregnancies with Down syndrome is more than two times greater with many spontaneously aborting. It is the cause of 8% of all congenital disorders. […] Maternal age affects the chances of having a pregnancy with Down syndrome. At age 20, the chance is 1 in 1,441; at age 30, it is 1 in 959; at age 40, it is 1 in 84; and at age 50 it is 1 in 44. Although the probability increases with maternal age, 70% of children with Down syndrome are born to women 35 years of age and younger, because younger people have more children. The father’s older age is also a risk factor in women older than 35, but not in women younger than 35, and may partly explain the increase in risk as women age.

• #24 About Down Syndrome | National Down Syndrome Society (NDSS)

  https://ndss.org/about

  According to the Centers for Disease Control and Prevention, approximately one in every 775 babies in the United States is born with Down syndrome, making Down syndrome the most common chromosomal condition. About 5,000 babies with Down syndrome are born in the United States each year. […] Down syndrome occurs in people of all races and economic levels, though older women have an increased chance of having a child with Down syndrome. A 35-year-old woman has about a one in 350 chance of conceiving a child with Down syndrome, and this chance increases gradually to 1 in 100 by age 40. At age 45 the incidence becomes approximately 1 in 30. […] All three types of Down syndrome are genetic conditions (relating to the genes), but only 1% of all cases of Down syndrome have a hereditary component (passed from parent to child through the genes).

• #25 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Down-Syndrome-Epidemiology.aspx

  Down syndrome or Down’s syndrome is a genetic disorder that affects hundreds of babies worldwide. […] Worldwide, the incidence of Down syndrome is estimated to be about one in every 1000 births. In the United States, it is estimated that about 6000 babies are born each year with Down syndrome, which means around one in every 700 babies has the condition. […] Down syndrome can affect individuals of any races or ethnicity and is the most common genetic cause of learning disability. Research has shown a link between advancing maternal age and the risk of Down syndrome developing in babies. […] Women who are aged 35 years or older when they become pregnant have a greater likelihood of giving birth to a baby with Down syndrome than women who are younger than 35 when they become pregnant. However, most babies with Down syndrome are born to women under the age of 35, due to the higher rate of births among women below this age. […] Studies have also shown that older age of the father also increases the risk of Down syndrome in offspring when the mother is aged over 35 (but not in women aged under 35) when she becomes pregnant.

• #26 Down syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Down_syndrome

  Down syndrome is the most common chromosomal abnormality in humans. Globally, as of 2010, Down syndrome occurs in about 1 per 1,000 births and results in about 17,000 deaths. More children are born with Down syndrome in countries where abortion is not allowed and in countries where pregnancy more commonly occurs at a later age. About 1.4 per 1,000 live births in the United States and 1.1 per 1,000 live births in Norway are affected. In the 1950s, in the United States, it occurred in 2 per 1,000 live births with the decrease since then due to prenatal screening and abortions. The number of pregnancies with Down syndrome is more than two times greater with many spontaneously aborting. It is the cause of 8% of all congenital disorders. […] Maternal age affects the chances of having a pregnancy with Down syndrome. At age 20, the chance is 1 in 1,441; at age 30, it is 1 in 959; at age 40, it is 1 in 84; and at age 50 it is 1 in 44. Although the probability increases with maternal age, 70% of children with Down syndrome are born to women 35 years of age and younger, because younger people have more children. The father’s older age is also a risk factor in women older than 35, but not in women younger than 35, and may partly explain the increase in risk as women age.

• #27 Introductory Chapter: Down Syndrome and Other Chromosome Abnormalities | IntechOpen

  https://www.intechopen.com/chapters/79575

  Down syndrome (DS) is one of the most frequent autosomal disorders in humans and is also known as trisomy 21. Its incidence at birth is approximately 1 in 700. […] Investigation on DS karyotype revealed a diploid chromosome number of 2n = 47, XX/XY, +21 in 95% cases, while mosaicism was found in approximately 2% of cases. On the other hand, Robertsonian translocations involving 13q21q or 14q21q or 21q21q account for approximately 3% of all DS cases. […] Two established risk factors for the birth of DS babies are advanced maternal age and altered recombination. […] Study of parental origin of extra chromosome 21, stage of meiotic nondisjunction, and recombination pattern revealed the overall reduction in meiotic recombination irrespective of maternal age. […] Besides advanced maternal age, environmental risk factors for the birth of DS babies have also been identified, which include smokeless chewing tobacco, oral contraceptives, and cigarette smoking.

• #28 Introductory Chapter: Down Syndrome and Other Chromosome Abnormalities | IntechOpen

  https://www.intechopen.com/chapters/79575

  Though advanced maternal age is one of the most important risk factors for the meiotic nondisjunction of chromosome 21 in DS individuals, investigation of this association at the genetic level, involving telomere length measurement, is still limited. […] Recent studies on the infection with COVID-19 virus show that DS patients are at increased risk for death from infection with the virus since the DS patients are associated with dysfunction of immune system, congenital heart disease, and pulmonary pathology.

• #29 Down Syndrome Market Report 2032: Epidemiology Data, Pipeline Therapies, Latest FDA, EMA, PDMA Approvals by DelveInsight

  https://www.einpresswire.com/article/698367719/down-syndrome-market-report-2032-epidemiology-data-pipeline-therapies-latest-fda-ema-pdma-approvals-by-delveinsight

  According to the DSAGSL organization, approximately 400,000 Americans were diagnosed with Down syndrome in 2022, with around 6,000 babies born with the condition annually in the US. […] As stated by the Minnesota Health Department in 2023, Down syndrome occurs in approximately 1 out of 800 to 1,000 live births in the US and stands as the most prevalent genetic cause of developmental delay. It further delineated three types of Down syndrome: trisomy 21 (nondisjunction), which comprises 95% of cases, translocation, making up about 4%, and mosaicism, accounting for roughly 1%. […] Graaf et al. (2016) reported that in 2015, there were 419,000 individuals with Down syndrome residing in Europe. Additionally, between 2011 and 2015, there were 8,031 annual live births of children with Down syndrome, with a live birth prevalence of 10.1 per 10,000 live births.

• #30 Down’s Syndrome (Trisomy 21)

  https://patient.info/doctor/downs-syndrome-trisomy-21

  Down’s syndrome is one of the most common genetic disorders, affecting 1 in 650-1,000. […] The underlying genetic defect is trisomy 21 in 94% of cases. […] Mosaicism (2.4%) and translocations (3.3%) also occur. […] Maternal age is the strongest risk factor for Down’s syndrome and the maternal age-specific risk of having a baby with Down’s syndrome. […] The average maternal age-specific risk was calculated from live births in England and Wales between 1938 and 2010 for each age group and found to be: 0.66 per 1,000 for maternal age under 20 years of age, 0.70 per 1,000 for ages 20-24, 0.84 per 1,000 for ages 25-29, 1.48 per 1,000 for ages 30-34, 4.72 per 1,000 for ages 35-39, 15.22 per 1,000 for ages 40-44, and 30.71 per 1,000 for 45 years and older.

• #31 Introductory Chapter: Down Syndrome and Other Chromosome Abnormalities | IntechOpen

  https://www.intechopen.com/chapters/79575

  Down syndrome (DS) is one of the most frequent autosomal disorders in humans and is also known as trisomy 21. Its incidence at birth is approximately 1 in 700. […] Investigation on DS karyotype revealed a diploid chromosome number of 2n = 47, XX/XY, +21 in 95% cases, while mosaicism was found in approximately 2% of cases. On the other hand, Robertsonian translocations involving 13q21q or 14q21q or 21q21q account for approximately 3% of all DS cases. […] Two established risk factors for the birth of DS babies are advanced maternal age and altered recombination. […] Study of parental origin of extra chromosome 21, stage of meiotic nondisjunction, and recombination pattern revealed the overall reduction in meiotic recombination irrespective of maternal age. […] Besides advanced maternal age, environmental risk factors for the birth of DS babies have also been identified, which include smokeless chewing tobacco, oral contraceptives, and cigarette smoking.

• #32 About Down Syndrome | National Down Syndrome Society (NDSS)

  https://ndss.org/about

  According to the Centers for Disease Control and Prevention, approximately one in every 775 babies in the United States is born with Down syndrome, making Down syndrome the most common chromosomal condition. About 5,000 babies with Down syndrome are born in the United States each year. […] Down syndrome occurs in people of all races and economic levels, though older women have an increased chance of having a child with Down syndrome. A 35-year-old woman has about a one in 350 chance of conceiving a child with Down syndrome, and this chance increases gradually to 1 in 100 by age 40. At age 45 the incidence becomes approximately 1 in 30. […] All three types of Down syndrome are genetic conditions (relating to the genes), but only 1% of all cases of Down syndrome have a hereditary component (passed from parent to child through the genes).

• #33 Down syndrome in Europe – has the disorder epidemiology changed over the last quarter-century? – European Commission

  https://joint-research-centre.ec.europa.eu/jrc-news-and-updates/down-syndrome-europe-has-disorder-epidemiology-changed-over-last-quarter-century-2019-03-21_en

  Of the 5.2 million births in the European Union (EU) each year, approximately 104,000 (2.5%) will be born with congenital anomalies. […] Down syndrome, a disorder caused by trisomy of chromosome 21, accounts for approximately 8 % of all congenital anomalies. […] To mark the occasion of World Down Syndrome Day, the JRC publishes a report describing the epidemiology of Down syndrome in Europe over the last 25 years. […] With many couples postponing parenting until later in life, the report confirms that there is a rise in the prevalence of Down syndrome, from an average of 16 (for 10 000 births) in 1990 to 23 in 2015. […] National prenatal screening programmes for Down syndrome have been established in many European countries and their respective methodologies have changed significantly in the last two decades.

• #34 Down syndrome in Europe – has the disorder epidemiology changed over the last quarter-century? – European Commission

  https://joint-research-centre.ec.europa.eu/jrc-news-and-updates/down-syndrome-europe-has-disorder-epidemiology-changed-over-last-quarter-century-2019-03-21_en

  As a consequence, the prenatal detection of Down syndrome has increased from 49 % in 2005 to about 70 % in 2015. […] In the framework of the European Platform on Rare Diseases Registration, the JRC operates the Central Registry of EUROCAT, a network of population-based registries for the epidemiological surveillance of congenital anomalies covering about 1/3 of all European births (approx. 1.7 million births/year). […] Prevalence of Down syndrome in live born children is an important public health indicator which has been developed by EUROCAT and which has both socio-economic and policy implications on health service requirements. […] The information presented in the report contributes to understanding the epidemiology of Down syndrome across Europe, including prevalence, trends and prenatal detection.

• #35 Down syndrome in Europe – has the disorder epidemiology changed over the last quarter-century? – European Commission

  https://joint-research-centre.ec.europa.eu/jrc-news-and-updates/down-syndrome-europe-has-disorder-epidemiology-changed-over-last-quarter-century-2019-03-21_en

  Of the 5.2 million births in the European Union (EU) each year, approximately 104,000 (2.5%) will be born with congenital anomalies. […] Down syndrome, a disorder caused by trisomy of chromosome 21, accounts for approximately 8 % of all congenital anomalies. […] To mark the occasion of World Down Syndrome Day, the JRC publishes a report describing the epidemiology of Down syndrome in Europe over the last 25 years. […] With many couples postponing parenting until later in life, the report confirms that there is a rise in the prevalence of Down syndrome, from an average of 16 (for 10 000 births) in 1990 to 23 in 2015. […] National prenatal screening programmes for Down syndrome have been established in many European countries and their respective methodologies have changed significantly in the last two decades.

• #36 Down syndrome in Europe – has the disorder epidemiology changed over the last quarter-century? – European Commission

  https://joint-research-centre.ec.europa.eu/jrc-news-and-updates/down-syndrome-europe-has-disorder-epidemiology-changed-over-last-quarter-century-2019-03-21_en

  As a consequence, the prenatal detection of Down syndrome has increased from 49 % in 2005 to about 70 % in 2015. […] In the framework of the European Platform on Rare Diseases Registration, the JRC operates the Central Registry of EUROCAT, a network of population-based registries for the epidemiological surveillance of congenital anomalies covering about 1/3 of all European births (approx. 1.7 million births/year). […] Prevalence of Down syndrome in live born children is an important public health indicator which has been developed by EUROCAT and which has both socio-economic and policy implications on health service requirements. […] The information presented in the report contributes to understanding the epidemiology of Down syndrome across Europe, including prevalence, trends and prenatal detection.

• #37 Frontiers | Global, Regional, and National Burden and Trends of Down Syndrome From 1990 to 2019

  https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.908482/full

  Global, Regional, and National Burden and Trends of Down Syndrome From 1990 to 2019 […] 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. […] In this study, we aim to show the global burden and epidemiology trend of DS stratified by age, SDI, regions, and countries from 1990 to 2019. […] 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. […] 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. […] The findings may provide valuable information to the development or implementation of more effective measures.

• #38 Down Syndrome Surveillance in Canada 2005-2013 – Canada.ca

  https://www.canada.ca/en/public-health/services/publications/healthy-living/down-syndrome-surveillance-2005-2013.html

  The birth prevalence of Down syndrome in Canada (excluding Quebec) has been stable in the last decade, averaging 15.8 per 10,000 total births, between 2005 and 2013. […] The rate of Down syndrome among stillbirths remained relatively stable around 31.2 per 1,000 stillbirths, except for a slight decrease from 2010 to 2012, while the rate among live births remained stable at approximately 13.5 per 10,000 live births between 2005 and 2013. […] The rates of Down syndrome vary among Canadian provinces and territories. Variations in maternal age distributions as well as disparities in access to and utilization of prenatal screening and diagnosis (to ascertain Down syndrome, which may lead to subsequent terminations of pregnancy) likely impact the observed regional differences in rates of Down syndrome.

• #39 Twenty-year trends in prevalence and survival of Down syndrome | European Journal of Human Genetics

  https://www.nature.com/articles/ejhg2008122

  The aims of this study were (1) to determine trends in total prevalence and live birth prevalence of Down syndrome, (2) to analyse trends in factors likely to influence this prevalence and (3) to determine 1-year survival in Down syndrome. […] Down syndrome affected 1188 pregnancies among 690215 live births (1.72 per 1000 total births). The proportion increased over 20 years from 1.3 to 2.5 per 1000 total births (P0.0001). […] The prevalence of pregnancies affected by Down syndrome has increased significantly, but there has been no overall change in live birth prevalence. […] This study was performed to assess trends in the prevalence at live birth of Down syndrome in 19852004 in one health region of the United Kingdom. […] We also looked at trends in survival to 1 year in infants with Down syndrome with and without cardiac defects.

• #40 Twenty-year trends in prevalence and survival of Down syndrome | European Journal of Human Genetics

  https://www.nature.com/articles/ejhg2008122

  The live birth prevalence of Down syndrome declined from 1.16 in 19851989 to 0.94 per 1000 live births in 19901994 and increased from 1.03 in 19951999 to 1.21 per 1000 live births in 20002004 (P=0.01) with no overall change over 20 years. […] Overall 1-year survival was 90% (87% in 19851994 and 94% in 19952004: P=0.003). […] Survival of infants with Down syndrome continues to improve. […] The current increasing number of children with Down syndrome will require adequate provision of health care throughout childhood and adult life.

• #41 Down syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Down_syndrome

  Down syndrome is the most common chromosomal abnormality in humans. Globally, as of 2010, Down syndrome occurs in about 1 per 1,000 births and results in about 17,000 deaths. More children are born with Down syndrome in countries where abortion is not allowed and in countries where pregnancy more commonly occurs at a later age. About 1.4 per 1,000 live births in the United States and 1.1 per 1,000 live births in Norway are affected. In the 1950s, in the United States, it occurred in 2 per 1,000 live births with the decrease since then due to prenatal screening and abortions. The number of pregnancies with Down syndrome is more than two times greater with many spontaneously aborting. It is the cause of 8% of all congenital disorders. […] Maternal age affects the chances of having a pregnancy with Down syndrome. At age 20, the chance is 1 in 1,441; at age 30, it is 1 in 959; at age 40, it is 1 in 84; and at age 50 it is 1 in 44. Although the probability increases with maternal age, 70% of children with Down syndrome are born to women 35 years of age and younger, because younger people have more children. The father’s older age is also a risk factor in women older than 35, but not in women younger than 35, and may partly explain the increase in risk as women age.

• #42 Down Syndrome Surveillance in Canada 2005-2013 – Canada.ca

  https://www.canada.ca/en/public-health/services/publications/healthy-living/down-syndrome-surveillance-2005-2013.html

  Despite the trend in delayed childbearing and advanced maternal age at delivery in the last several decades, rates of Down syndrome in Canada have not increased proportionately. […] Rates for terminations due to Down syndrome vary widely across Canada, potentially due to differences in access to prenatal screening/pregnancy termination and attitudes of women towards terminating the pregnancy once the diagnosis has been made. […] Surveillance for Down syndrome based on hospitalization data is limited by the exclusion of Down syndrome cases that end in pregnancy termination outside hospital (e.g., out-patient pregnancy termination at 20 weeks gestation) which limits the complete ascertainment of Down syndrome cases.

• #43

  https://benthamscience.com/public/chapter/8017

  Down syndrome (DS) is the commonest chromosomal disorders in the world; affecting all countries, all races, and both sexes. […] The prevalence of DS could be affected by different factors including distribution of maternal age in the population, adequacy and completeness of ascertainment, accurateness of diagnosis, level of selective prenatal termination of affected pregnancies, as well as different unrecognized genetic and environmental factors. […] Incidence of DS is expected to be significantly high in the developing countries, probably due to the higher death rate from comorbidities in DS such as congenital cardiovascular defects. […] According to World Health Organization; the predictable incidence of DS is between 1 in 1,000 to 1 in 1,100 live births all over the world. […] The difference in prevalence among populations or countries or in the same population over time will depend on the potential risk factors in common for that community.

• #44 Down Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK526016/

  The incidence of Down syndrome increases with maternal age, and its occurrence varies in different populations (1 in 319 to 1 in 1000 live births). […] It is also known that the frequency of Down syndrome fetuses is quite high at the time of conception, but about 50% to 75% of these fetuses are lost before term. […] The occurrence of other autosomal trisomy is much more common than the 21, but the postnatal survival is very poor as compared to Down syndrome. […] This high percentage of survival of patients with trisomy 21 is thought to be a function of a small number of genes on chromosome 21 called Hsa21, which is the smallest and least dense of the autosomes.

• #45 About Down Syndrome | National Down Syndrome Society (NDSS)

  https://ndss.org/about

  Individuals with Down syndrome are becoming increasingly integrated into society and community organizations, such as schools, health care systems, work forces, and social and recreational activities. […] Due to advances in medical technology, individuals with Down syndrome are living longer than ever before. In 1910, children with Down syndrome were expected to survive to age nine. With the discovery of antibiotics, the average survival age increased to 19 or 20. Now, with recent advancements in clinical treatment, most particularly corrective heart surgeries, as many as 80% of adults with Down syndrome reach age 60, and many live even longer.

• #46 Living with Down Syndrome | Birth Defects | CDC

  https://www.cdc.gov/birth-defects/living-with-down-syndrome/index.html

  Down syndrome is the most common chromosomal condition diagnosed in the United States. […] Each year, about 5,700 babies born in the United States have Down syndrome. This means that Down syndrome occurs in about 1 in every 640 babies. […] The life expectancy of people with Down syndrome increased dramatically between 1960 and 2007. In 1960, on average, persons with Down syndrome lived to be about 10 years old. In 2007, on average, persons with Down syndrome lived to be about 47 years old. […] Between 50 and 65% of all babies born with Down syndrome are also born with a congenital heart defect. […] Compared with children without Down syndrome, children with Down syndrome are at higher risk for certain other medical conditions. Some of the most common conditions include: Hearing loss (up to 75% may be affected), Obstructive sleep apnea, where a person’s breathing temporarily stops while asleep (between 50 and 75%), Ear infections (between 50 and 70% may be affected), Eye diseases, like cataracts (up to 60%), Eye issues requiring glasses (50%), Heart defects present at birth (between 50 and 65%).

• #47 About Down Syndrome | National Down Syndrome Society (NDSS)

  https://ndss.org/about

  Individuals with Down syndrome are becoming increasingly integrated into society and community organizations, such as schools, health care systems, work forces, and social and recreational activities. […] Due to advances in medical technology, individuals with Down syndrome are living longer than ever before. In 1910, children with Down syndrome were expected to survive to age nine. With the discovery of antibiotics, the average survival age increased to 19 or 20. Now, with recent advancements in clinical treatment, most particularly corrective heart surgeries, as many as 80% of adults with Down syndrome reach age 60, and many live even longer.

• #48 Down syndrome | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/down-syndrome?lang=us

  The approximate worldwide incidence is approximately 1 in 800 live births. The individual risk is strongly dependent on maternal risk, and therefore incidence varies with regional and temporal variation in maternal age distribution and the implementation of antenatal screening. […] Increased incidence with increasing maternal age. […] Previous pregnancy with Down syndrome. […] Life expectancy for individuals with Down Syndrome has increased significantly due to a reduction in rates of institutionalisation and improved medical care. In the United States, in 1960, individuals with Down syndrome lived on average about 10 years, while in 2007 individuals with Down syndrome lived to approximately 47 years of age. […] A 2003 study found that 78% of patients with Down syndrome and a congenital cardiac defect survived their first year of life, compared to 98% of those without a congenital cardiac defect. […] Respiratory infections stay considerably predominant cause of death. Moreover, other causes of early mortality, include congenital heart defects and dementia.

• #49 Living with Down Syndrome | Birth Defects | CDC

  https://www.cdc.gov/birth-defects/living-with-down-syndrome/index.html

  Down syndrome is the most common chromosomal condition diagnosed in the United States. […] Each year, about 5,700 babies born in the United States have Down syndrome. This means that Down syndrome occurs in about 1 in every 640 babies. […] The life expectancy of people with Down syndrome increased dramatically between 1960 and 2007. In 1960, on average, persons with Down syndrome lived to be about 10 years old. In 2007, on average, persons with Down syndrome lived to be about 47 years old. […] Between 50 and 65% of all babies born with Down syndrome are also born with a congenital heart defect. […] Compared with children without Down syndrome, children with Down syndrome are at higher risk for certain other medical conditions. Some of the most common conditions include: Hearing loss (up to 75% may be affected), Obstructive sleep apnea, where a person’s breathing temporarily stops while asleep (between 50 and 75%), Ear infections (between 50 and 70% may be affected), Eye diseases, like cataracts (up to 60%), Eye issues requiring glasses (50%), Heart defects present at birth (between 50 and 65%).

• #50 FAQ and Facts about Down Syndrome – Global Down Syndrome Foundation

  https://www.globaldownsyndrome.org/about-down-syndrome/facts-about-down-syndrome/

  1. In the U.S., Down syndrome is the least funded major genetic condition by our National Institutes of Health despite being the most frequent chromosomal disorder. […] 3. Down syndrome is the most frequently occurring chromosomal disorder and the leading cause of intellectual and developmental delay in the U.S. and in the world. […] 1. The Centers for Disease Control (CDC) in 2011 estimated the frequency of Down syndrome in the US is 1 in 700 live births (up from 1 in 1087 in 1990) […] 3. Surprisingly, The population of people in the US with Down syndrome is currently unknown. […] 1. Today the average lifespan of a person with Down syndrome is approximately 60 years. […] 1. People with Down syndrome are significantly predisposed to certain medical conditions including congenital heart defects, sleep apnea, and Alzheimers disease.

• #51 Alzheimer Disease in Down Syndrome: Overview, Pathophysiology/Risk Factors, Epidemiology

  https://emedicine.medscape.com/article/1136117-overview

  Several studies document that most individuals with Down syndrome (DS) develop Alzheimer Disease (AD). […] The prevalence of AD in DS is estimated to be about 13.3%, with 55 years at disease onset. […] Age and trisomy 21 are the most important factors in disease development. Neuropathologic findings related to AD are described in all DS individuals older than 35 years. […] The percentage of people with DS and AD varies in some epidemiologic studies presented. A review of these studies showed that 10-25% of patients had AD when aged 40-49 years, 20-50% had AD when aged 50-59 years, and 60-75% had AD when older than 60 years. […] In summary, these and other epidemiological studies indicate that the high frequency of AD in persons with DS is unique, not related to the developmental disability but related to the cause of the DS, and most likely associated with the presence of an extra chromosome 21.

• #52 Epidemiology of Acute Leukemia among Children with Down Syndrome in Korea

  https://www.e-crt.org/journal/view.php?doi=10.4143/crt.2021.368

  Children with Down syndrome (DS) show a higher risk of acute leukemia than those without DS. […] Our findings support the fact that the incidence of acute leukemia is higher among patients with DS than among those without DS in Korea. […] The risk of acute leukemia for patients with DS has been reported to be 10 to 20 times higher than that for patients without DS. […] The relative risk of acute leukemia, ALL, and AML was 49.25, 20.75, and 163.38 times higher in the DS group than in the non-DS group, respectively. […] In this study, acute leukemia with DS accounted for 1.1% of all acute leukemia cases, DS AML accounted for 2.3% of all the AML cases, and DS ALL accounted for 0.6% of all the ALL cases. […] The incidence of acute leukemia was higher in the DS group than in the general population, a finding that is in accordance with those of previous studies.

• #53 Down syndrome | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/down-syndrome?lang=us

  The approximate worldwide incidence is approximately 1 in 800 live births. The individual risk is strongly dependent on maternal risk, and therefore incidence varies with regional and temporal variation in maternal age distribution and the implementation of antenatal screening. […] Increased incidence with increasing maternal age. […] Previous pregnancy with Down syndrome. […] Life expectancy for individuals with Down Syndrome has increased significantly due to a reduction in rates of institutionalisation and improved medical care. In the United States, in 1960, individuals with Down syndrome lived on average about 10 years, while in 2007 individuals with Down syndrome lived to approximately 47 years of age. […] A 2003 study found that 78% of patients with Down syndrome and a congenital cardiac defect survived their first year of life, compared to 98% of those without a congenital cardiac defect. […] Respiratory infections stay considerably predominant cause of death. Moreover, other causes of early mortality, include congenital heart defects and dementia.

• #54 Guidance for Essential Medical Surveillance – DSMIG

  https://www.dsmig.org.uk/information-resources/guidance-for-essential-medical-surveillance/

  People with Down syndrome on the whole do not have medical problems that differ from those in the general population. However some medical conditions are overrepresented. Most of these are treatable disorders which, if undiagnosed, impose an additional but preventable burden of secondary handicap. […] The DSMIG surveillance guidelines have been developed on the basis of available evidence by a group of clinicians with a special interest in Down syndrome. They are updated as new research and audit evidence becomes available. […] Their purpose is to set out a minimum safe standard of basic medical surveillance which we consider essential for all those with the syndrome in the UK and Republic of Ireland. […] This we consider to be the identification of: cardiac disease, thyroid, hearing, ophthalmic problems, and the appropriate monitoring of growth.

• #55 Healthcare Guidelines | National Down Syndrome Society (NDSS)

  https://ndss.org/resources/healthcare-guidelines

  The healthcare guidelines mentioned below help define the standards of quality care for individuals with Down syndrome. […] The American Academy of Pediatrics publishes a guideline for families and physicians to navigate the health needs of children with Down syndrome. […] The GLOBAL Medical Care Guidelines for Adults with Down Syndrome provide first-of-kind, evidence-based medical recommendations to support clinicians in their care of adults with Down syndrome.

• #56 Down syndrome in Europe – has the disorder epidemiology changed over the last quarter-century? – European Commission

  https://joint-research-centre.ec.europa.eu/jrc-news-and-updates/down-syndrome-europe-has-disorder-epidemiology-changed-over-last-quarter-century-2019-03-21_en

  As a consequence, the prenatal detection of Down syndrome has increased from 49 % in 2005 to about 70 % in 2015. […] In the framework of the European Platform on Rare Diseases Registration, the JRC operates the Central Registry of EUROCAT, a network of population-based registries for the epidemiological surveillance of congenital anomalies covering about 1/3 of all European births (approx. 1.7 million births/year). […] Prevalence of Down syndrome in live born children is an important public health indicator which has been developed by EUROCAT and which has both socio-economic and policy implications on health service requirements. […] The information presented in the report contributes to understanding the epidemiology of Down syndrome across Europe, including prevalence, trends and prenatal detection.

• #57 Trisomy 21 (Down syndrome) by race/ethnicity: Texas, 2014-2017 Average | PeriStats | March of Dimes

  https://www.marchofdimes.org/peristats/data/old?reg=48&top=16&stop=561&lev=1&slev=4&obj=1

  During 2014-2017 (average) in Texas, 14.0 in 10,000 live births were born with Trisomy 21 (Down syndrome). […] It is important to track birth defects and trends so that research can be done to understand possible causes and methods of prevention. […] The majority of states (44 states and Puerto Rico) have a type of birth defects surveillance system.

• #58 Down Syndrome Market Report 2032: Epidemiology Data, Pipeline Therapies, Latest FDA, EMA, PDMA Approvals by DelveInsight

  https://www.einpresswire.com/article/698367719/down-syndrome-market-report-2032-epidemiology-data-pipeline-therapies-latest-fda-ema-pdma-approvals-by-delveinsight

  According to Graaf et al. (2016), the estimated population prevalence of Down syndrome in the US is 1 in 1,499, encompassing approximately 206,366 individuals with the condition. […] Antonarakis (2020) highlighted a significant increase in the lifetime prevalence of Down syndrome due to the global population growth. For instance, in the US, the population prevalence of Down syndrome surged from approximately 50,000 in 1950 (3.3 per 10,000 individuals) to around 212,000 in 2013 (6.7 per 10,000 individuals). […] The epidemiology section provides insights into the historical, current, and forecasted epidemiology trends in the seven major countries (7MM) from 2019 to 2032. It helps to recognize the causes of current and forecasted trends by exploring numerous studies and views of key opinion leaders. The epidemiology section also provides a detailed analysis of the diagnosed patient pool and future trends.

• #59 Down Syndrome Market Report 2032: Epidemiology Data, Pipeline Therapies, Latest FDA, EMA, PDMA Approvals by DelveInsight

  https://www.einpresswire.com/article/698367719/down-syndrome-market-report-2032-epidemiology-data-pipeline-therapies-latest-fda-ema-pdma-approvals-by-delveinsight

  The Down Syndrome market report proffers epidemiological analysis for the study period 2019-2032 in the 7MM segmented into: Total Prevalence of Down Syndrome, Prevalent Cases of Down Syndrome by severity, Gender-specific Prevalence of Down Syndrome, Diagnosed Cases of Episodic and Chronic Down Syndrome.

• #60 General Medical /Health – DSMIG

  https://www.dsmig.org.uk/information-resources/by-topic/general-medical-health/

  Many people with Down syndrome are fit and healthy. However, there are a number of medical problems that occur more frequently in Down syndrome. […] If not detected early and treated, illness can affect physical health and development. Knowledge of the different patterns of disease is important therefore to help to reduce medically associated complications and so that prompt treatment can be offered. […] All children and young people with Down syndrome should be under the care of a paediatrician. They should coordinate care between other healthcare professionals, and provide expert advice to carers. Regular health surveillance should be undertaken, with healthcare staff and families working together to prevent avoidable health issues, and spot any which are arising before they cause major issues. […] In the UK, all those with an intellectual disability are entitled to an annual health check, usually arranged with the GP practice. […] DSMIG evidence-based guidelines for basic essential medical surveillance.

• #61 Screening for children with Down Syndrome

  https://www.rch.org.au/genmed/clinical_resources/Screening_for_children_with_Down_Syndrome/

  Children with Down syndrome may have a number of associated medical problems including: […] Awareness of and routine screening for potential comorbidities is required to optimise the health of these children. Health surveillance and screening should be coordinated by a paediatrician familiar with the care of a child with Down syndrome. […] The timing of routine visits should ideally be: during the neonatal period; 3 months; 6 months; 12 months then annually. At each visit, assessment should focus on the associated medical problems listed above as well as parental concerns, family support and education.

• #62 Screening for children with Down Syndrome

  https://www.rch.org.au/genmed/clinical_resources/Screening_for_children_with_Down_Syndrome/

  Children with Down syndrome may have a number of associated medical problems including: […] Awareness of and routine screening for potential comorbidities is required to optimise the health of these children. Health surveillance and screening should be coordinated by a paediatrician familiar with the care of a child with Down syndrome. […] The timing of routine visits should ideally be: during the neonatal period; 3 months; 6 months; 12 months then annually. At each visit, assessment should focus on the associated medical problems listed above as well as parental concerns, family support and education.

• #63 Fifteen-minute consultation: The review of a child with trisomy 21 (Down’s syndrome) | ADC Education & Practice Edition

  https://ep.bmj.com/content/107/2/88

  Downs syndrome (DS) is the most common chromosomal abnormality seen in live born children and it is the most common genetic cause of intellectual disability. […] Downs syndrome (DS) occurs in 1 in every 1000 live births and is the most frequent chromosomal abnormality seen in liveborn infants. It is caused by having an extra full or partial copy of chromosome 21 in some or all of the bodys cells. DS is associated with a wide range of health conditions affecting multiple body systems. It is important that the care of children with DS is standardised so that complications are not missed. The Down Syndrome Medical Interest Group (DSMIG) has very useful guidelines for when and what type of screening should occur. […] The DSMIG recommends yearly cardiac auscultation to identify emerging cardiac problems.

• #64 Fifteen-minute consultation: The review of a child with trisomy 21 (Down’s syndrome) | ADC Education & Practice Edition

  https://ep.bmj.com/content/107/2/88

  The DSMIG recommend yearly screening with overnight oximetry until 5 years of age, but this will be guided by local availability. […] Coeliac disease is present in around 5% of the DS population; there are some advocates of including regular screening in the surveillance programme, using either regular coeliac serology or human leukocyte antigen (HLA) screening. This is not currently recommended by the DSMIG and testing should be guided by clinical symptoms and risk (eg, positive family history).

• #65 General Medical /Health – DSMIG

  https://www.dsmig.org.uk/information-resources/by-topic/general-medical-health/

  Many people with Down syndrome are fit and healthy. However, there are a number of medical problems that occur more frequently in Down syndrome. […] If not detected early and treated, illness can affect physical health and development. Knowledge of the different patterns of disease is important therefore to help to reduce medically associated complications and so that prompt treatment can be offered. […] All children and young people with Down syndrome should be under the care of a paediatrician. They should coordinate care between other healthcare professionals, and provide expert advice to carers. Regular health surveillance should be undertaken, with healthcare staff and families working together to prevent avoidable health issues, and spot any which are arising before they cause major issues. […] In the UK, all those with an intellectual disability are entitled to an annual health check, usually arranged with the GP practice. […] DSMIG evidence-based guidelines for basic essential medical surveillance.

• #66 G154(P) Heath Surveillance for children with Down Syndrome | Archives of Disease in Childhood

  https://adc.bmj.com/content/99/Suppl_1/A68.2

  Children with Down Syndrome are a higher risk of developing potentially treatable conditions. The Down Syndrome medical interest group (DSMIG) have set out a minimum standard of basic medical surveillance. A guideline for health surveillance had been developed within the health board to improve awareness and compliance to health surveillance. The aim of this study was to audit current practice for surveillance of Down Syndrome across the trust and compare to guidelines from DSMIG. […] A total of 86 patients with Down Syndrome were identified with 38 females aged up to 18 years. 70% of cases were diagnosed postnatally. 86% of these patients were being followed up by community Paediatricians with 88% having regular follow. The guideline for health surveillance was in 15% of case notes. […] Minimal standards for medical surveillance are not being met despite the guideline for Down Syndrome being an excellent prompt. It is our responsibility to ensure that children with Down Syndrome are monitored regularly to ensure that clinical problems are diagnosed early enabling prompt diagnosis and treatment.

• #67 Health care utilisation among older people with Down syndrome compared to specific medical guidelines for health surveillance: a Swedish national register study | BMC Health Services Research | Full Text

  https://bmchealthservres.biomedcentral.com/articles/10.1186/s12913-020-05800-7

  Specific medical guidelines for health surveillance exist for people with Down syndrome (DS) since 25 years but knowledge of adherence to the guidelines is lacking. […] The aims of the study were to investigate 1) planned health care visits in relation to the co-morbidities described in specific medical guidelines as a measure of adherence, 2) unplanned health care visits as a measure of potentially unmet health care needs and 3) gender differences in health care utilisation among older people with DS. […] The relatively few planned health care visits according to the medical guidelines together with a high number of unplanned visits caused by conditions which potentially can be prevented suggest a need of improved adherence to medical guidelines. […] National health care guidelines or recommendations for health surveillance of co-morbidities of DS, including planned health care visits, have been developed in many countries, for children as well as for adults.

• #68 Health care utilisation among older people with Down syndrome compared to specific medical guidelines for health surveillance: a Swedish national register study | BMC Health Services Research | Full Text

  https://bmchealthservres.biomedcentral.com/articles/10.1186/s12913-020-05800-7

  Even if Swedish specific medical guidelines for health surveillance of people with DS have existed for 25 years, adherence to the guidelines have not yet been investigated. […] The most common cause for a planned visit was cataract, followed by epilepsy, arthrosis and dementia. […] The most common cause for an unplanned visit, on the ICD-10 block level, was influenza and pneumonia, followed by general symptoms and signs. […] A large proportion of these older people with DS had at least one unplanned visit caused by fractures, pain, pneumonia and epilepsy. […] The high number of unplanned visits due to preventable conditions may represent potentially unmet health care needs within primary health care.

• #69 New study spotlights radiation exposure from medical imaging for children with Down syndrome

  https://health.ucdavis.edu/news/headlines/new-study-spotlights-radiation-exposure-from-medical-imaging-for-children-with-down-syndrome/2023/09

  Children with Down syndrome often undergo extensive medical tests, including imaging, that may use ionizing radiation. […] A recent study by UC Davis Health researchers quantifies those rates of exposure. […] This is the first study of its kind to utilize a large, comprehensive data set to measure radiation exposure from medical imaging in children with Down syndrome. […] The researchers saw cause for concern for children with Down syndrome, though, who may have increased susceptibility to radiation because they already have an increased risk of developing cancer. […] For children with Down syndrome, specifically, we’re seeing an increase in CT imaging and angiography, both of which have a relatively high dose of radiation many times more than standard radiographs. […] They found that children with Down syndrome were exposed to ionizing radiation at significantly higher rates than other children. […] On average, they received imaging at 9.5 times the rate of other children before reaching one year of age, and at 2.3 times the rate of other children between 1 18 years of age. […] The message we want to convey is that medical imaging should be used judiciously.

• #70 The importance of adequate health surveillance for children with Down syndrome – News & Events | Trinity College Dublin

  https://www.tcd.ie/news_events/articles/the-importance-of-adequate-health-surveillance-for-children-with-down-syndrome/

  Down syndrome (or Trisomy 21) is the most common chromosomal abnormality, making up 8% of all registered such cases Europe-wide. In Ireland, one baby with Down syndrome is born out of 444 live births, that is about 110 babies each year. […] Researchers at CHI, Tallaght had an ambitious aim; for 100% of children with Down syndrome at CHI Tallaght to receive care that was in accordance with the detailed Irish and UK guidelines. […] The Trinity and CHI Tallaght research team undertook a research audit of the service and found that compliance to guidelines improved with each iteration of the clinic. […] As well as showing significant improvements to the adherence to guidelines, there was also considerable improvement in implementing health promotion strategies, such as providing information on immunisations. […] This approach to meeting the healthcare needs of children with Down syndrome is clearly working, and we will continue to lobby for additional clinics to be set up in other parts of the country to meet the medical needs of people with Down syndrome across their lifespan.

• #71 Frontiers | Global, Regional, and National Burden and Trends of Down Syndrome From 1990 to 2019

  https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.908482/full

  Global, Regional, and National Burden and Trends of Down Syndrome From 1990 to 2019 […] 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. […] In this study, we aim to show the global burden and epidemiology trend of DS stratified by age, SDI, regions, and countries from 1990 to 2019. […] 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. […] 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. […] The findings may provide valuable information to the development or implementation of more effective measures.

• #72 Down Syndrome

  https://dph.illinois.gov/topics-services/life-stages-populations/genomics/down-syndrome.html

  Down syndrome is a genetic condition that is usually caused by an extra copy of the twenty-first chromosome. According to current data, about 250,000 people in the United States have Down syndrome. Studies show that about 1 in 800 babies are born with Down syndrome, and the chance of having a baby with the genetic condition increases with the age of the expectant mother. […] Because of advances in health care, education, and public attitudes, the outlook for people with Down syndrome has improved significantly over the past few decades. […] Currently, the average life expectancy for people with Down syndrome is about 60 years. […] As a result of improved public attitudes and acceptance, many people with Down syndrome are thriving as active and valued members of the community. This includes children who are involved in social and school programs with their peers and many adults who are employed and live independently or with some support. Research shows that the majority of adults with Down syndrome report that they are happy with their lives.

• #73 FAQ and Facts about Down Syndrome – Global Down Syndrome Foundation

  https://www.globaldownsyndrome.org/about-down-syndrome/facts-about-down-syndrome/

  1. In the U.S., Down syndrome is the least funded major genetic condition by our National Institutes of Health despite being the most frequent chromosomal disorder. […] 3. Down syndrome is the most frequently occurring chromosomal disorder and the leading cause of intellectual and developmental delay in the U.S. and in the world. […] 1. The Centers for Disease Control (CDC) in 2011 estimated the frequency of Down syndrome in the US is 1 in 700 live births (up from 1 in 1087 in 1990) […] 3. Surprisingly, The population of people in the US with Down syndrome is currently unknown. […] 1. Today the average lifespan of a person with Down syndrome is approximately 60 years. […] 1. People with Down syndrome are significantly predisposed to certain medical conditions including congenital heart defects, sleep apnea, and Alzheimers disease.

• #74 FAQ and Facts about Down Syndrome – Global Down Syndrome Foundation

  https://www.globaldownsyndrome.org/about-down-syndrome/facts-about-down-syndrome/

  3. There is a major lack of funding for research benefitting people with Down syndrome, even compared to other conditions and diseases. […] The funding for Down syndrome research at the National Institutes of Health (NIH) started a continual and precipitous decline in the year 2001 as a result today Down syndrome is the least-funded major genetic condition in the U.S.;

• #75 World Down Syndrome Day | United Nations

  https://www.un.org/en/observances/down-syndrome-day

  Many people with Down syndrome around the world dont get the support they need. Many countries do not have support systems that meet the needs of people with disabilities and their families. […] Governments must make sure there is a support system, so people with disabilities are included in the community.

• #76 About Down Syndrome | National Down Syndrome Society (NDSS)

  https://ndss.org/about

  Individuals with Down syndrome are becoming increasingly integrated into society and community organizations, such as schools, health care systems, work forces, and social and recreational activities. […] Due to advances in medical technology, individuals with Down syndrome are living longer than ever before. In 1910, children with Down syndrome were expected to survive to age nine. With the discovery of antibiotics, the average survival age increased to 19 or 20. Now, with recent advancements in clinical treatment, most particularly corrective heart surgeries, as many as 80% of adults with Down syndrome reach age 60, and many live even longer.

• #77 World Down Syndrome Day | United Nations

  https://www.un.org/en/observances/down-syndrome-day

  Down syndrome occurs when an individual has an extra partial (or whole) copy of chromosome 21. […] The estimated incidence of Down syndrome is between 1 in 1,000 to 1 in 1,100 live births worldwide. Each year, approximately 3,000 to 5,000 children are born with this chromosome disorder. […] The quality of life of people with Down syndrome can be improved by meeting their health care needs, including regular check-ups with health professionals to monitor mental and physical condition and to provide timely intervention be it physiotherapy, occupational therapy, speech therapy, counselling or special education. […] Individuals with Down syndrome can achieve optimal quality of life through parental care and support, medical guidance, and community based support systems such as inclusive education at all levels.

• #78 Down Syndrome

  https://dph.illinois.gov/topics-services/life-stages-populations/genomics/down-syndrome.html

  Down syndrome is a genetic condition that is usually caused by an extra copy of the twenty-first chromosome. According to current data, about 250,000 people in the United States have Down syndrome. Studies show that about 1 in 800 babies are born with Down syndrome, and the chance of having a baby with the genetic condition increases with the age of the expectant mother. […] Because of advances in health care, education, and public attitudes, the outlook for people with Down syndrome has improved significantly over the past few decades. […] Currently, the average life expectancy for people with Down syndrome is about 60 years. […] As a result of improved public attitudes and acceptance, many people with Down syndrome are thriving as active and valued members of the community. This includes children who are involved in social and school programs with their peers and many adults who are employed and live independently or with some support. Research shows that the majority of adults with Down syndrome report that they are happy with their lives.

• #79 Statistics – Down Syndrome Australia

  https://www.downsyndrome.org.au/about-down-syndrome/statistics/

  Down syndrome is the most commonly occurring chromosomal condition. […] This page presents a range of the latest statistics relevant to Down syndrome in Australia. […] Between 2016 and 2020, there were an estimated 265 births of babies with Down syndrome per year. This means around 1 in every 1,158 babies born in Australia will have Down syndrome. […] However there is no national data collection on the number of people with Down syndrome in Australia. […] The best estimate available is that there are between 13,000-15,000 individuals with Down syndrome in Australia as of 2019. […] These population figures mean that for every 10,000 people there are 5.14 people with Down syndrome. […] For every 1100 babies born in Australia, 1 will have Down syndrome. […] This means there are about 290 babies with Down syndrome born in Australia each year. […] People with Down syndrome live longer, lives than ever. This has gone up a lot in the past 50 years. […] The average Australian with Down syndrome can now expect to live to 60 or more years old. […] In 2019, there were over 10,000 people with Down syndrome in the NDIS.

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