About all

First recorded case of down syndrome: Earliest Case of Down Syndrome Discovered in Medieval Cemetery

Goats and Soda : NPR


Andrew Curry

At a site called Poulnabrone, on the west coast of Ireland, archaeologists found the skeleton of a baby with Down syndrome who died nearly 4,000 years ago — the oldest confirmed case of Down syndrome.

Hoberman Collection/Universal Images Group via Getty

hide caption

toggle caption

Hoberman Collection/Universal Images Group via Getty

At a site called Poulnabrone, on the west coast of Ireland, archaeologists found the skeleton of a baby with Down syndrome who died nearly 4,000 years ago — the oldest confirmed case of Down syndrome.

Hoberman Collection/Universal Images Group via Getty

Geneticists have discovered that a baby buried almost 5,500 years ago had the extra chromosome that causes Down syndrome by analyzing DNA preserved in his skeleton. Researchers say the finding, published Wednesday in the journal Nature, is the oldest confirmed case of Down syndrome.

Babies born with Down syndrome typically have distinctively-shaped eyes and skulls, which the authors of the Nature paper suggest might have set him apart as an infant. Chemical analysis of his bones shows he was breastfed, and when he died at about six months old he was buried in a monumental tomb, along with other children and adults, at a site called Poulnabrone on the west coast of Ireland. “The visible difference of that infant didn’t preclude him being buried in a prestigious setting,” says Trinity College Dublin geneticist Daniel Bradley, who led the new study.

To Lorna Tilley, an Australian archaeologist who specializes in the way past societies cared for people who were sick or disabled, the the fact that the baby was buried in a monumental tomb with other children and adults should come as no surprise. “I’m not sure, unless it was a really dramatic case, it would have been thought of as strange,” she says. “Most babies, in most circumstances, are looked after.”

In fact, the evidence suggests that people in the past devoted significant time and scarce resources to caring for those in need. Scouring the archaeological literature, Tilley and others have turned up evidence that caring for the weak and sick is behavior that goes back as far as Neanderthals. “I take these cases for granted now,” Tilley says. “From the very earliest times, we can see evidence that people who were unable to function were helped, looked after and given what care was available.”

A skeleton found in Vietnam, dubbed Burial 9, was discovered in 2007. A closer look at his bones led to a diagnosis of rare genetic syndrome that often leads to paralysis. “From the bones alone, we can say this person lived with a disease that required help from others to survive,” says archaeologist Lorna Tilley, who helped uncover the 4,000-year-old remains.

Lorna Tilley

hide caption

toggle caption

Lorna Tilley

A skeleton found in Vietnam, dubbed Burial 9, was discovered in 2007. A closer look at his bones led to a diagnosis of rare genetic syndrome that often leads to paralysis. “From the bones alone, we can say this person lived with a disease that required help from others to survive,” says archaeologist Lorna Tilley, who helped uncover the 4,000-year-old remains.

Lorna Tilley

In 2007, for example, Tilley was working a site in Vietnam called Man Bac when she helped uncover the twisted, hunched skeleton of a man. Dubbed Burial 9, he was part of a small group of a few dozen Stone Age hunter-gatherers who lived about 4,000 years ago.

A closer look at his bones led to a diagnosis of Klippel-Feil syndrome, a rare, painful genetic disease that results in fused spinal bones and often leads to paralysis. Tilley estimated that his disease became crippling in his teens – and he died from its complications in his mid-20s. “He was at least a partial quadriplegic for the last ten years of his life,” Tilley says.

Tilley, who worked as a nurse and health care policy researcher before becoming an archaeologist, had an idea of what it must have taken to keep Burial 9 alive. Paralyzed from the waist down and with severely limited arm and neck movement, he depended on others to provide food and water, clean him and move him to prevent pressure sores. “From the bones alone, we can say this person lived with a disease that required help from others to survive,” she says.

Archaeologists at work on the site in Vietnam where the skeleton now known as Burial 9 was found.

Lorna Tilley

hide caption

toggle caption

Lorna Tilley

Archaeologists at work on the site in Vietnam where the skeleton now known as Burial 9 was found.

Lorna Tilley

The glimpse into one man’s struggle in the distant past led her to develop a concept she calls the “bioarchaeology of care. ” It’s a way for archaeologists to think about evidence for disease or disability in the past to better understand what kinds of care people needed – and what that says about the society that provided it.

It’s changing the way archaeologists and other scholars think about evidence for rare diseases and disabilities in the past. Rather than presenting unusual diagnoses and examples of rare diseases as curiosities, footnotes or isolated case studies, researchers are increasingly using them to better understand the societies that provided them with care.

The people who took care of Burial 9, for example, scratched out a precarious existence using stone tools to fish and raise pigs in prehistoric Vietnam. Signs of malnutrition in the bones of people buried nearby suggested famine was a constant threat. “In a small society which was very stressed, that means somebody who couldn’t contribute or go out hunting or undertake a lot of tasks was supported, accommodated, and adjusted to,” Tilley says. “That tells us people mattered. They were valued.”

Over the past few years, the approach has been applied to Peruvian mummies, medieval European skeletons and Oetzi, a Stone Age hunter recovered from an icy grave in the Italian Alps. Tilley says there’s ample evidence wounded or disabled Neanderthals were taken care of by members of their social groups, including a Neanderthal man who died more than 45,000 years ago. Known as Shanidar I, the man was missing his lower arm and hand, had a bad limp, and was partially blind and deaf – and lived well into his 40s, undoubtedly with daily help from others.

And in April, researchers in Brazil applied the bioarchaeology of care model to the skeleton of a baby born 6,000 years ago in what is now Brazil. The infant suffered from a severe disease that ravaged its bones. “It’s absolutely obvious this child had something systemically wrong with them,” Tilley says, yet the infant was evidently nurtured for months and buried surrounded by bone collars, bone earrings and dog’s-tooth beads – rich grave goods unlike any others uncovered in burials in the cemetery.

Tilley says the archaeological record – from the Poulnabrone tomb to the jungles of Brazil – shows that global response to the coronavirus crisis is the rule, not an exception, in humanity’s long story. “The most important thing we can learn from the past is the consistency of care,” she says. “The last few months have reinforced that the behavior of care is something that has a continuing timeline from the Neanderthal times right through.”

Andrew Curry (@spoke32) is a journalist based in Berlin, Germany.

Earliest Case of Down Syndrome Discovered in Medieval Cemetery

When you purchase through links on our site, we may earn an affiliate commission. Here’s how it works.

The skeleton of a 5- to 7-year-old child (shown here) who lived in medieval France shows signs of having Down syndrome, the earliest such case in the archaeological record.
(Image credit: Rivollat et al./Elsevier.)

The earliest probable case of Down syndrome in the archaeological record comes from a 5- to 7-year-old child who lived in medieval France some 1,500 years ago, new research shows.

The child, who is also the youngest example of the condition in the archaeological record, likely was not stigmatized in life, given that the body was treated in a similar way to others buried at the site, researchers say.

Archaeologists originally discovered the skeleton of the child in 1989, when they excavated it along with 93 other skeletons from a fifth- to sixth-century necropolis located just south of the Abbey of Saint-Jean-des-Vignes in northeastern France. Researchers had suspected the child may have had Down syndrome, but they hadn’t performed a rigorous analysis to confirm the diagnosis. [See Photos of the Remains of an Ancient Plague Epidemic]

So Maïté Rivollat, an archaeologist at the University of Bordeaux, and her colleagues studied the skull of the child, and took a computed tomography (CT) scan of it to understand its internal features.

“Two earlier publications just mentioned the possibility of Down syndrome without [conducting] a detailed study,” Rivollat told Live Science in an email. “The [CT] scan was a new possibility to approach the intracranial aspect of that skull.”

An ancient disorder

Down syndrome is a genetic disorder in which a person has an extra copy of chromosome 21. People born with Down syndrome typically have intellectual disabilities, physical growth delays and certain facial features, including a flat nasal bridge and almond-shaped eyes that slant upward.

British physician John Langdon Down first described Down syndrome as a unique disorder in 1866. Despite this relatively recent identification of the condition, paintings and sculptures have depicted Down syndrome for centuries.

For instance, the earliest depiction of Down syndrome may come from Olmec figurines from Mesoamerica that date as far back as 1500 B.C., according to a 2011 study on the history of Down syndrome published in the Journal of Contemporary Anthropology.

In the archaeological record, the oldest probable case of Down syndrome came from a 9-year-old child who lived in England sometime between A. D. 700 and 900. (A skeleton from a Native American cemetery in California, dating to 5200 B.C., may, in fact, be the earliest archaeological case of Down syndrome, but the evidence is less conclusive, the 2011 study notes.)

A normal life?

The skull of a 5- to 7-year-old child (shown here) who lived in medieval France shows signs of Down syndrome; for instance, the skull was short and broad, and flattened at the base. (Image credit: Rivollat et al./Elsevier.)

To see if the Saint-Jean-des-Vignes child really had Down syndrome, Rivollat and her team studied the dimensions and structure of the child’s skull and compared it with the skulls of 78 other children of similar ages. Their analysis showed the French child had numerous features indicative of Down syndrome, which the other skulls lacked.

For example, the skull was short and broad, and flattened at the base. In addition, it contained thin cranial bones and certain extra bone pieces. The child also had some sinus and dental abnormalities, which aren’t diagnostic of Down syndrome on their own, but are indicative of the disorder when considered along with the other characteristics, the researchers point out in their study, published online last month in the International Journal of Paleopathology.

The archaeologists also studied the way in which the child was buried to obtain clues about how he or she was treated in life, something scientists weren’t able to do with other ancient cases of Down syndrome. Just like other skeletons in the cemetery, the child was placed face-up in its tomb, with its head pointing west and feet pointing east, and its hands situated under its pelvis. That is, the child’s burial treatment was no different from that of other people in the cemetery, Rivollat said.

“We interpret this as meaning that the child was maybe not stigmatized during life, the first time a Down syndrome individual has been so viewed in the context of the ancient community,” the researchers write in their study.

 Follow Joseph Castro on Twitter. Follow us @livescience, Facebook & Google+. Original article published on Live Science.

Stay up to date on the latest science news by signing up for our Essentials newsletter.

Contact me with news and offers from other Future brandsReceive email from us on behalf of our trusted partners or sponsors

Joseph Bennington-Castro is a Hawaii-based contributing writer for Live Science and Space.com. He holds a master’s degree in science journalism from New York University, and a bachelor’s degree in physics from the University of Hawaii. His work covers all areas of science, from the quirky mating behaviors of different animals, to the drug and alcohol habits of ancient cultures, to new advances in solar cell technology. On a more personal note, Joseph has had a near-obsession with video games for as long as he can remember, and is probably playing a game at this very moment.

  1. 1

    Kentucky man finds over 700 Civil War-era coins buried in his cornfield

  2. 2

    Scientists discover huge, heat-emitting blob on the far side of the moon

  3. 3

    ‘Giant’ 300,000-year-old hand ax found in England may have been used for prehistoric butchery

  4. 4

    Viking sword from warrior’s grave unearthed in family’s yard in Norway

  5. 5

    Zapotec ‘entrance to underworld’ discovered under Catholic church in Mexico

  1. 1

    $500,000 chunk of ‘floating gold’ found in dead whale

  2. 2

    Elite Bronze Age tombs laden with gold and precious stones are ‘among the richest ever found in the Mediterranean’

  3. 3

    Elite Roman man buried with sword may have been ‘restrained’ in death

  4. 4

    Zapotec ‘entrance to underworld’ discovered under Catholic church in Mexico

  5. 5

    Humans were in South America at least 25,000 years ago, giant sloth bone pendants reveal

Down’s syndrome and cardiovascular pathology: clinical observation and literature review | Reznik E.

V., Nguyen T.L., Ilyina T.S., Tokmakova E.S., Jobava E.M., Golukhov G.N.


Down syndrome is one of the most common chromosomal anomalies resulting from the mutation of the 21st pair of chromosomes with the formation of its additional copy in the human genome. This syndrome was first described by D. Down in 1866. The 21st chromosome is the smallest human chromosome, which contains 200-300 genes (127 known genes, 98 predicted and 59 pseudogenes) [1]. Patients with Down syndrome have more copies of genes on chromosome 21. The genes themselves are normal, the anomaly lies in the fact that an increased amount of gene products is produced on a given chromosome as a result of overexpression in cells and tissues, which leads to the formation of phenotypic anomalies [2].

The frequency of occurrence is 1 case per 800 newborns [3]. The prevalence of the syndrome does not depend on race, nationality and socioeconomic status. In Russia, the overall incidence of Down syndrome increased from 15. 53 per 10,000 in 2011 to 19.93 per 10,000 in 2017. At the same time, the incidence of Down syndrome only among newborns over this period of time decreased from 9.91 to 7.54 per 10,000 births [4].

Recently, due to improved care and early treatment of complications, the overall life expectancy of patients with Down syndrome has increased significantly, they are beginning to come to the attention of therapists, cardiologists. This article presents a clinical observation of a 59-year-old patient with Down syndrome, who developed acquired heart disease, severe conduction disorders, which led to death.

Clinical observation

A 59-year-old patient was admitted to the cardio intensive care unit of a multidisciplinary hospital with a critical depletion of the power source of the pacemaker (pacer). Complaints at admission did not show the severity of the condition.

According to the medical records, the patient has had hypertension, coronary heart disease, exertional angina complicated by chronic heart failure for more than 10 years. In 2013, pacemaker implantation was performed for atrioventricular blockade of the 3rd degree. Also history of chronic pyelonephritis, C4 chronic kidney disease, Child-Pugh class B cirrhosis (9points), metal osteosynthesis for a closed fracture of the left femur.

At the prehospital stage, depletion of the power source was revealed, in connection with which the patient was hospitalized by an ambulance team in the intensive care unit.

Upon admission, the general condition was severe. Coma I. The skin is pale. Swelling of legs and feet. The number of breaths is 5 in 1 min, the rhythm is wrong. Percussion sound clear pulmonary. Auscultatory breathing is weakened over the lower parts of the lungs, there are no wheezing. Tracheal intubation with an 8 mm tube was performed, artificial ventilation of the lungs was started using the Drager apparatus in the Bipap mode. Heart sounds are muffled, a systolic murmur is heard over the projection point of the aortic valve, which is carried out to the vessels of the neck. The rhythm is wrong. Heart rate (HR) 12–20 in 1 min with pauses up to 15 s (Morgagni-Adams-Stokes attacks). There is no pulse deficit. Arterial pressure is not determined. The tongue is clean and enlarged. The abdomen is of normal shape, soft, painless. There are no symptoms of peritoneal irritation. The liver is painless on palpation, enlarged by 3 cm, a symptom of “jellyfish head”. The spleen is not enlarged percussion, not palpable, painless. Urination is free.

The electrocardiogram (see figure) revealed a complete atrioventricular block with pauses on the monitor for up to 15 seconds. Setting up a temporary pacemaker was unsuccessful. According to emergency indications, a permanent pacemaker was replaced.

A general blood test revealed moderate normochromic normocytic anemia: hemoglobin concentration 84 g/l (normal 112–153 g/l), erythrocyte count 2.94×10 12 /l (normal 3.8–5.15×10 12 /l), hematocrit 30% (norm 34.9–45. 6%), average volume of erythrocytes 86 fl (norm 82–98 fl), average hemoglobin content in erythrocyte 28.0 pg (norm 26.7–33 pg ), the average concentration of hemoglobin in an erythrocyte is 325 g/l (norm 314–349 g/l), color index 0.86 (norm 0.82–1.1), leukocytes 12 × 10 9 / l (norm 4, 5–11×10 9 /l), neutrophils 10.84×10 9 /l (norm 1.8–6.98×10 9 /l). The data of the biochemical blood test and coagulogram upon admission and in dynamics are presented in Table 1.

Computed tomography of the brain showed no evidence of acute cerebrovascular accident. Chest radiography revealed congestion, bilateral hydrothorax.

According to echocardiography (EchoCG), the aortic root is compacted, calcified, the aortic pulsation is rhythmic, the diameter of the aorta at the level of the sinuses of Valsalva is 26 mm. Calcification of the aortic valve with mild aortic stenosis (gradient 33/17 mm Hg, blood flow through the aortic valve 2. 91 m/s) [5] and mild insufficiency (small central regurgitation flow, low density, regurgitation jet width 2 mm) [6], the number of valves is not reliably determined. Mitral valve prolapse: systolic prolapse of the anterior leaflet up to 2 mm, opening is not impaired. Hypertrophy of the myocardium of the left ventricle (144 g/m 2 ): thickness of the interventricular septum (IVS) in diastole 11 mm, thickness of the posterior wall of the left ventricle (LV) in diastole 11 mm. Expansion of the cavity of the left atrium: the maximum anteroposterior size of the left atrium is 43 mm, the volume is 74 ml. The left ventricle is not dilated: the LV end-diastolic size is 38 mm, the LV end-diastolic volume is 60 ml. LV ejection fraction 50%. Local contractility is not broken. IVS dyssynchrony. The right ventricle is not dilated: end-diastolic size 34 mm, right atrial area 16 cm 2 . The divergence of the sheets of the pericardium up to 6 mm behind the posterior and lateral walls of the left ventricle. In the right departments, the EX-electrode. Estimated systolic pressure in the pulmonary artery 30 mm Hg. Art.

Despite the therapy (including inotropic and respiratory support, change of pacemaker for emergency indications), on the 8th day of hospitalization, ineffective pacing, asystole were registered, resuscitation was carried out without effect, and biological death was stated.

The pathoanatomical diagnosis coincided with the clinical one:

“Main disease: valvular aortic stenosis: aortic valve perimeter 6.5 cm, orifice diameter 0.8 cm, calcification of the aortic valve cusps, myocardial hypertrophy (heart weighing 381 g, left ventricular wall thickness 1.7 cm).

Background disease: Down’s syndrome: hydronephrosis of the kidneys on both sides, hypoplasia of the left kidney.

Complications: violation of the conduction of the heart: atrioventricular blockade of the 2nd or 3rd degree. Implantation of a two-chamber pacemaker “EX-460-DR” from 2013. Critical depletion of the power source of the pacemaker. Change of EX-460-DR to EX-460-DR from 10/15/2020. Pulmonary edema. Bilateral hydrothorax (left 300 ml, right 800 ml). Ascites 200 ml. Acute venous congestion. Necrosis of the epithelium of the convoluted tubules of the kidneys. Cerebral edema.

Resuscitation and intensive care: puncture and catheterization of the right jugular vein from 10/15/2020. Orotracheal intubation from 10/15/2020. Artificial lung ventilation from 10/15/2020 to 10/23/2020.

Concomitant diseases: aortic atherosclerosis (grade 1, stage II). Chronic pyelonephritis. Chronic simple bronchitis. Diffuse pneumosclerosis. Adhesions of the pleural cavities on both sides. Child-Pugh class B cirrhosis of the liver (9 points). Moderate normochromic normocytic anemia.

Down syndrome

Down syndrome is caused by a mutation of the 21st pair of chromosomes with the formation of its additional copy in the human genome. Factors that increase the risk of having a child with trisomy 21 include the age of the mother. Thus, a woman has a risk of 1:1925 at the age of 20, 1:885 at 30, 1:365 at 35, 1:110 at 40, and 1:50 at 45. Heredity and disruption of gamete formation also play a role [7].

There are 3 forms of Down syndrome: simple trisomy on the 21st chromosome, translocation trisomy and mosaic variant. In the case of simple trisomy, the cell genome is represented by 47 chromosomes and includes 3 chromosomes in the 21st pair. Most often, this type occurs during the formation of reproductive cells (in 95% of cases – oocytes, less often – spermatozoa) and is associated with a violation of chromosome separation during the first or second meiotic cell division, which leads to the appearance of an additional copy of the 21st chromosome. Karyotypes of children: females — 47, XX, +21, males — 47, XY, +21. Occurs in 90-95% of cases. The translocation variant involves the transfer of a fragment of a chromosome to another (more often between the 14th and 21st, 21st and 22nd, 22nd and 21st chromosomes) and accounts for 5–6% of all cases of Down syndrome. Karyotypes for girls – 46, XX, der (21, 21) +21 or 46, XX, der (14, 21) +21, for boys – 46, XY, der (21, 21) +21 or 46, XY, der (14, 21) +21. The mosaic form affects only some cells of the body, therefore it is the most difficult to diagnose. The frequency of occurrence is 2–3% of all cases of Down syndrome [8]. There are several types of mosaic trisomy: cellular, tissue and chimerism. In the first case, it is represented by an alternation of normal and trisomic cells, in the second case, by tissues affected by trisomy, the latter variant is formed by the fusion of two fertilized eggs, one or both of which are affected by mosaicism, with the formation of one embryo [4, 5].

In Down syndrome, birth weight is usually reduced, height, weight, and head circumference are below normal due to hypotension, a small oral cavity, and concomitant diseases of the gastrointestinal tract and cardiovascular system. Patients tend to gain weight with age due to hypothyroidism, high leptin levels, and low basal metabolic rate. There is also a variable degree of mental retardation in patients. Intelligence Quotient ranges from moderate (50–70) to low (35–50). Such children are worse adapted to life and slowly adapt. The typical behavior model of such patients implies an affectionate, caring and rather sociable person, but autistic character traits are becoming more common among them, observed already at the age of 2–3 years [6, 7].

The “gold standard” for diagnosing the disease is chromosomal analysis, which allows you to detect an additional copy of the chromosome. Molecular genetic methods such as quantitative fluorescent polymerase chain reaction and in situ interfacial hybridization provide rapid diagnosis and can be used in preterm infants [9].

Antenatal screening for Down syndrome allows you to determine the likelihood of having a child with this pathology, it is recommended for women of all age groups in the I and II trimesters of pregnancy. Screening in the first trimester is carried out using statistical programs (Astraia, etc. ) and includes an assessment of three components: parental age risk, biochemical risk (serum human gonadotropin + PAPP protein + PIGF) and ultrasound risk (according to the thickness of the collar space), then the total risk is calculated. The detection rate of the syndrome during screening is 80–82%, with a false positive rate of 3% [10]. Currently, only ultrasound screening is performed in the second trimester – at 19-21 weeks more than 10 markers of Down syndrome are evaluated during pregnancy. Second trimester screening, which was previously performed in the form of a triple or quadrotest (included the determination of the level of serum human gonadotropin, unconjugated estriol, alpha-fetoprotein and inhibin A or 17-hydroxyprogesterone at a period of 15–19 weeks), is now canceled due to low economic and clinical efficiency. Down syndrome was detected in 80% of cases [11]. If the threshold level of the total risk according to the results of the first screening is more than 1:250, a chorionic villus biopsy is used at 11–12 weeks or a safer and no less reliable amniocentesis at 16–18 weeks of pregnancy [10] for accurate verification of the diagnosis.

Children with Down syndrome often have malformations of the cardiovascular, respiratory, nervous, immune, endocrine, genitourinary, and musculoskeletal systems. Of greatest interest are congenital heart defects (CHD) and blood vessels due to the fact that they are the main cause of death for people with Down syndrome. According to statistics, among such patients, 13% of children and 24% of adults die from cardiac causes [12]. In addition to CHD, respiratory infections and leukemia reduce the survival of patients. Recently, due to improved care and early treatment of complications, the overall life expectancy of patients with Down syndrome has increased significantly [12].

Congenital heart defects in Down syndrome

40–50% of newborns with Down syndrome have CHD [9, 10, 13–15]. They are the main cause of death in patients in the first 2 years of life [16]. The most common CHDs are a complete or incomplete atrioventricular canal (or the so-called atrioventricular septal defect (AVSD)), ventricular septal defect (VSD), atrial septal defect (ASD), patent ductus arteriosus (Botall’s) and tetralogy of Fallot [10, 15] . AVSD and VSD are typical malformations in Down syndrome [17]. The most common malformation in newborns is AVSD, accounting for 40% of all CHD cases. VSD is the second most common — 35% of all CHD cases [9, 13].

The mutation that contributes to the development of AVSD in Down syndrome is located on the 21st chromosome [18]. To date, two specific genetic loci for AVSD have been identified. One of them is the AVSD1 locus present on chromosome 1p31-p21 [19]. Another locus is present on chromosome 3p25 and the corresponding cysteine-rich gene, EGF-like domain 1 (CRELD1) [20, 21]. AVSD is a CHD in which the VSD and ASD merge and there is a pathology of the atrioventricular valves [22]. Allocate complete or incomplete AVSD [23]. Incomplete AVSD is characterized by the presence of separate atrioventricular valves, an ostium primum ASD, an inlet VSD, and a cleft mitral valve. It is caused by incomplete fusion of the endocardial cushions [24].

Complete AVSD is characterized by a common atrioventricular valve, an ostium primum ASD, and an inlet type VSD. It is caused by complete non-fusion of endocardial cushions [25]. In complete AVSD, the common atrioventricular valve has 5 large cusps: 3 lateral (adjacent to the free walls) and 2 bridging (septal) [26]. With AVSD, there is a disproportion between the output and input sizes of the left ventricle, the first of which is larger than the second compared to the normal heart, where they are the same.

On routine antenatal ultrasound scanning, AVSD is best seen in the four-chamber position of the heart as a common atrioventricular valve [27]. However, the sensitivity of antenatal ultrasound in AVSD is very low [28]. Postpartum diagnosis of AVSD is carried out using electrocardiography, chest x-ray, echocardiography. Echocardiographic findings include abnormal configuration of the atrioventricular valve, loss of normal displacement of the atrioventricular valve, abnormal papillary muscle position, left ventricular inlet/outlet disproportion, ostium primum ASD, inlet VSD, and other concomitant CHD [19, 22].

This is usually a severe, hemodynamically significant malformation, but it is compatible with life, and with mild impairment, patients can live up to 20 years or more [22]. AVSD is subject to surgical correction. Its purpose is to close the VSD, ASD and restore the atrioventricular valves [27]. Patients who undergo surgery have a 15-year survival rate of about 90%. From 9% to 10% of them need reoperation within 15 years [29].

VSD is a congenital heart disorder in which there is a communication (hole) between the left and right ventricles with blood shunting from left to right and the development of pulmonary hypertension [22, 30]. Color Doppler imaging with transthoracic echocardiography is the most highly sensitive diagnostic method. Approximately 85% to 90% of small isolated VSDs spontaneously close within the first year of life. Surgical closure of the VSD is indicated for moderate to large defects with left ventricular dysfunction, in cases of progressive aortic insufficiency, or after an episode of endocarditis [31].

ASD is a CHD in which there is a communication (hole) between the left and right atrium, through which blood is discharged [22, 32]. ASD often does not lead to the appearance of clinical symptoms [33]. Diagnostic imaging is important in determining defect size and is critical in determining management. Transthoracic echocardiography is the “gold standard” for imaging [32]. ASDs smaller than 5 mm often close spontaneously during the first year of life. ASDs larger than 1 cm most often require surgical closure of the defect [34].

In addition, it is necessary to note the possibility of developing cardiovascular complications of CHD in patients with Down syndrome, including pulmonary hypertension, arrhythmia, and conduction disturbance, the presence of which is a predictor of an unfavorable prognosis for the patient [35].

Acquired CVD in patients with Down syndrome

The anatomy of the heart in people with trisomy 21 without overt congenital heart disease is not completely normal. Shortening of the IVS and an increase in its membranous portion have been reported in neonates with Down syndrome without congenital heart disease [36]. In addition, valvular dysplasia was detected in 64% of cases. Also, when assessing the state of the heart in a random group of adults with Down syndrome, a large number of patients with mitral valve prolapse or aortic regurgitation were identified [37-39]. Systolic function in adolescents with Down’s syndrome without congenital heart disease [40] and the results of cardiorespiratory test (treadmill test with assessment of respiratory function) [41] were adequate, suggesting the possibility of normal physical activity, although reduced performance was noted [42] .

In patients with Down’s syndrome, premature aging and a tendency to obesity have been described. Not only do they develop degenerative changes in appearance, such as skin and hair, earlier than mentally retarded people without Down syndrome, but they also develop symptoms of Alzheimer’s disease earlier than the general population. By the age of 45, almost all people with Down syndrome develop senile plaques, neurofibrillary tangles, and granulovacuolar degeneration of nerve cells. People with Down syndrome have a shorter life expectancy than the general population [43]. Also, people with Down syndrome have a higher probability of overweight and obesity than people without this disease, more frequent development of diseases of the thyroid and parathyroid glands, osteoporosis, metabolic syndrome, and type 2 diabetes [44-46]. Obesity is more common among women with Down syndrome than among men. Probable determinants of obesity included elevated leptin levels, decreased resting energy expenditure, comorbidities, poor diet, and low levels of physical activity. Obesity was positively associated with obstructive sleep apnea, dyslipidemia, hyperinsulinemia, and gait disturbance [47, 48].

According to E. Vianello et al. [49], adults with Down syndrome rarely develop atherosclerosis, arterial hypertension, and coronary heart disease (Table 2). A study [50] found that adults with Down syndrome had lower carotid intima-media thickness, systolic and diastolic blood pressure, and higher levels of C-reactive protein, triglycerides, and total body fat than controls. . Adults with Down syndrome may be protected from atherosclerosis despite increased levels of total body fat and increased risk factors for CVD. This trend is explained by overexpression of protective antiatherosclerotic factors due to genes located on the 21st chromosome [51]. Moreover, it has been suggested that higher levels of adiponectin [52] and fatty acid binding proteins [49], may play a role in protecting adults with Down syndrome from atherosclerosis.

It is also reported that the cardiovascular system of patients with Down syndrome is characterized by altered autonomic control of cardiac activity and autonomic dysfunction. Down syndrome patients without congenital heart disease demonstrate a decrease in heart rate and blood pressure in response to isometric grip exercises, tilt testing, and cold press testing [54, 55]. Patients with Down syndrome show less parasympathetic inhibition and sympathetic excitation in response to passive vertical tilt. These effects may be mediated by a lesser change in baroreflex sensitivity in people with Down syndrome [55]. Autonomic dysfunction may also partially explain the insufficient increase in heart rate during the maximum exercise treadmill test in these patients [54].

There are no statistics on the life expectancy of patients with Down syndrome in our country. According to foreign data [3], the average life expectancy in this disease has increased in recent years from 25 to 53–58 years. In the presented observation, the patient lived to be 59 years old and died of multiple organ failure due to untimely replacement of the pacemaker, acute decompensation of heart failure.


In the clinical observation presented by us, a patient with a diagnosis of Down syndrome confirmed in childhood had no data for the presence of congenital heart disease;years, was diagnosed with mild degenerative aortic stenosis and aortic valve insufficiency.

Thus, due to the increase in the life expectancy of patients with Down syndrome, they are beginning to fall into the field of view of therapists, cardiologists, resuscitators who provide assistance to the adult population. Currently, the management of such patients is carried out from the standpoint of general recommendations. It is necessary to study the characteristics of the course of CVD in this category of patients in order to provide them with adequate medical care. In the future, it is possible to develop separate clinical recommendations or include separate sections in general recommendations on the management of such patients.

Down syndrome – causes, symptoms, diagnosis and treatment

I confirm


  • org/ListItem”> INVITRO
  • Library
  • Disease Handbook
  • Down Syndrome



Mental retardation

Speech development


21st of June

Down syndrome: causes, symptoms, diagnosis and treatment.


Down’s syndrome is a congenital chromosomal anomaly, consisting in the presence of an extra chromosome in the 21st pair (trisomy of the 21st pair of chromosomes). A person has 23 pairs of chromosomes, so an ordinary child has 46 chromosomes, and a child with Down syndrome has 47. Down syndrome is characterized by a special appearance of the patient and a decrease in intellectual abilities. The frequency of this chromosomal anomaly in the population is 1:800 and does not depend on gender, race, family standard of living, or the presence or absence of bad habits in parents.

In Russia, 2,500 children with Down syndrome are born annually.

Causes of Down syndrome

The risk of having a child with Down syndrome for a woman increases from the age of 35 and reaches 1% by the age of 39. Of the total number of newborns with Down’s disease, more than 20% are born to mothers over 35 years of age. In addition, risk factors are the presence of hepatitis B or C in the mother, tuberculosis, rubella, Botkin’s disease, the father’s age is over 45 years, the mother’s age is too young (up to 18 years), and closely related marriages.

Classification of Down syndrome

There are three types of Down syndrome:

  • Trisomy is the most common form of Down syndrome, which is characterized by complete tripling of 21 chromosomes in all cells of the body; this form accounts for 94-95% of all cases of the disease;
  • displacement (translocation) of 21 pairs of chromosomes to other chromosomes – occurs in 4% of cases;
  • mosaic Down’s syndrome (about 2% of cases), when only some cells of the body contain tripled chromosome 21. Patients themselves, as a rule, are no different from healthy ones, but have a high risk of having a child with Down syndrome.

Symptoms of Down’s syndrome

A child with Down’s syndrome has widely spaced eyes with a Mongoloid incision, light pigment spots can be observed on the iris, epicanthus is often present – a vertical fold located between the upper and lower eyelids, partially covering the inner canthus. In addition, the distinguishing features are a short nose, a flat bridge of the nose, small auricles, brachycephaly (short and wide, almost round, head), a flat nape, an arched palate. Children often have anomalies of the dentition, underdevelopment of the lower jaw.

The body and limbs are disproportionately formed – the figure is squat, the shoulders are lowered, the limbs are short, there is a skin fold on the neck, the fingers can be shortened due to underdevelopment of the middle phalanges. Children with Down syndrome have a unique pattern of fingers and palms, this does not affect development in any way, but is a diagnostic feature. The feet are normal, but with an increased gap between the first and second toes, the sole often has a deep crease in this place. Most people with Down syndrome have flat feet. Muscle tone is significantly reduced, which affects movements.

Malformations of various organs and systems are diagnosed – the heart, the gastrointestinal tract, hypoplasia of the genital organs, keeled (the sternum protrudes) or funnel-shaped (the sternum is depressed) deformity of the chest.

Children with Down syndrome have mental retardation of varying severity. All children with Down syndrome lag behind in psychomotor development – they have reduced emotional activity, they begin to sit, walk, talk later than their peers, their speech is underdeveloped, their vocabulary is poor.

Speech disorders are associated not only with insufficiency of intelligence, but also with frequent hearing impairments and reduced muscle tone.

Despite the lag in intellectual and psycho-emotional development, children with Down syndrome are teachable, although they need more time to master certain knowledge than their peers. They can attend pre-school and school institutions, receive vocational education, be creative, lead a normal life and start families.

Such patients may show affection, benevolence, and curiosity.

Diagnosis of Down’s syndrome

During pregnancy, a woman can be diagnosed with Down’s syndrome. Primary (screening) diagnosis includes ultrasound and markers such as free beta hCG and PAPP-A (pregnancy-associated protein A) between the 11th and 13th weeks of pregnancy.

Screening ultrasound 1st trimester of pregnancy (11-13 weeks 6 days)

Research necessary to control the growth and development of the fetus in the first trimester of pregnancy.

RUB 3,090

Sign up

2 040 RUB

Add to cart

If, according to the results of the research, there is a suspicion of Down’s syndrome in the fetus, an invasive procedure is possible – a chorionic villus biopsy, or amniocentesis, when a sample of amniotic fluid is taken.

The decision to conduct an invasive study is made individually in each case, since the procedure is uncomfortable for the mother and has a risk of spontaneous abortion.

There is another screening diagnostic method – non-invasive prenatal testing (NIPT), which allows you to determine the chromosomal abnormalities of the fetus by the mother’s blood, due to the detection of DNA fragments of her child in the woman’s blood. If a fetus is at high risk of having Down syndrome after NIPT, an invasive examination is still required to confirm the diagnosis.

The second screening is done at 18-20 weeks of gestation and includes an ultrasound and a blood test if not previously done.

Screening ultrasound of the 2nd trimester of pregnancy (18-21 weeks) with Doppler evaluation of blood flow parameters

Study to monitor the course of multiple pregnancies, growth and development of fetuses and viability of blood circulation.

RUB 3,890

Sign up

2 120 RUB

Add to cart

Third ultrasound screening performed at 30-34 weeks.

Screening ultrasound of the 3rd trimester of pregnancy (30-34 weeks) with Doppler evaluation of blood flow parameters

Ultrasound examination for functional assessment of intrauterine development of the fetus, its estimated height and weight, as well as blood circulation.

RUB 3 890

Sign up

Which doctors to contact


Child is watching
pediatrician, if necessary, genetic testing is carried out with a consultation of a geneticist. Further, a patient with Down syndrome should be observed by an ophthalmologist,
neurologist, dentist, orthopedist-traumatologist, gynecologist,
ENT doctor.

Treatment for Down syndrome

There is no cure for Down syndrome. Patients with Down syndrome usually have a sufficient number of medical problems and conditions that may require care immediately after birth, intermittent treatment, or long-term treatment throughout life. Concomitant malformations are often an indication for surgical treatment.

Children need constant attention and care, physical (exercise) and psychological rehabilitation. Physiotherapy is prescribed to increase muscle strength, improve posture and balance. Speech therapist helps to solve problems with speech. Many patients are forced to resort to the use of hearing aids, glasses for vision correction, orthodontic constructions, bandages that help move, wear orthopedic shoes. Patients with Down syndrome are prone to obesity, so great attention should be paid to sufficient physical activity and a balanced diet.

Nootropic drugs are used to correct speech development disorders and related learning difficulties. Hyperactivity, impulsivity problems, and irritability may be indications for the prescription of psychotropic drugs. In addition, drugs are used to improve metabolic processes and motor activity.

In each age period, the attention of parents and doctors should be directed to the correction of certain conditions.

In the neonatal period (up to 1 month) and in the first year of life, the presence of malformations of the cardiovascular system and the gastrointestinal tract, as well as thyroid function, is assessed. At the age of 1-5 years, control requires sleep disturbances, constipation, instability of the cervical spine, delayed development of motor skills due to reduced muscle tone. At an older age (5-13 years), sleep disorders, constipation, skin lesions, behavioral disorders, learning difficulties, memory development, communication need correction, the period of sexual development begins. Puberty is accompanied by behavioral problems, deficits or delays in cognitive skills and communication, sexual behavior issues, and behavioral changes. In adulthood, sleep problems, constipation, visual and hearing impairments also persist.


Approximately half of children with Down’s syndrome are diagnosed with heart defects, the most common are ventricular septal defect, open common atrioventricular canal, tetralogy of Fallot and fibroelastosis. Narrowing of the nasopharynx and oropharynx, Eustachian tube, external auditory canal due to the underdevelopment of the middle part of the face leads to the fact that many children with Down syndrome experience apnea – episodes of complete or partial cessation of breathing during sleep, accompanied by impaired ventilation and a decrease in oxygen levels in blood.

Digestive organs are characterized by regurgitation, bloating, constipation.

Very high risk of infections, especially of the respiratory tract. The syndrome is often accompanied by eye diseases – congenital cataracts, nystagmus, strabismus, glaucoma, keratoconus, blepharitis and insufficiency of the nasolacrimal ducts. Insufficiency or obstruction of the nasolacrimal canal increases the risk of developing conjunctivitis, lacrimation. Due to frequent otitis media, the outflow of fluid from the middle ear is difficult, which increases the risk of hearing loss. Repeated otitis causes conductive hearing loss and, as a result, impaired speech function.

Children with Down syndrome may develop scoliosis, hip dysplasia, subluxation or dislocation of the hip, and instability of the patella. Due to the abnormal structure of collagen fibers, weakness of the ligamentous apparatus is observed, leading to hypermobility, instability of the joints, and their excessive mobility.

Down syndrome prevention

Down syndrome prevention does not exist. Couples planning to have a child are advised not to delay pregnancy until a later age, to undergo prenatal screening and genetic counseling.


  1. Grigoriev K.I. Down syndrome: comorbidity and program goals in the work of a pediatrician with such children // Difficult patient. – 2017. – No. 1–2. – T 15.
  2. Sapozhnikova T.V. Psychological and pedagogical support for children with Down syndrome and their families in a rehabilitation center: a teaching aid / T.V. Sapozhnikova, N.A. Pershina, N.A. Shchigreva. – Biysk, 2019. – 311 p.


The information in this section should not be used for self-diagnosis or self-treatment. In case of pain or other exacerbation of the disease, only the attending physician should prescribe diagnostic tests. For diagnosis and proper treatment, you should contact your doctor.
For a correct assessment of the results of your analyzes in dynamics, it is preferable to do studies in the same laboratory, since different laboratories may use different research methods and units of measurement to perform the same analyzes.


  • Tuberculosis of the spine


    July 13

  • Chronic cerebral ischemia


    July, 12

  • Hemoblastoses (malignant diseases of the hematopoietic system, blood cancer)


    08 July

Show more


Late pregnancy

Underdevelopment of the brain


Cleft lip

Cleft palate

Patau syndrome

9000 6 Patau syndrome: causes, symptoms, diagnosis and treatment.




Mental retardation


Phenylketonuria: causes, symptoms, diagnosis and treatment.


Mental retardation


Muscular ataxia



Rett syndrome

Rett syndrome: causes, symptoms, diagnosis and treatment.




Scarlet fever



Stomatitis: causes, symptoms, diagnosis and treatment.










Hemorrhagic rash


Radiation sickness

Radiation sickness: causes, symptoms, diagnosis and treatment.