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History of Down Syndrome

History of Down Syndrome

Down syndrome is a birth defect that occurs due to the presence of an extra chromosome in the cells of the body. The children born with this genetic disorder are characterized by flat facial features, small mouth, protruding tongue, etc.
Priya Johnson
Down syndrome, also known as trisomy 21, is a congenital disorder that affects one in every 700 newborns in the US alone (according to National Down Syndrome Society). In the UK, it is estimated that for every 1000 babies, one child is born with this condition.

Every cell in a normal human body consists of 46 chromosomes, out of which 23 are inherited from the father and 23 from the mother. However, cells in the body of a person suffering from this syndrome possess an extra 21st chromosome, thereby taking the total chromosomes in their body cells to 47. Children born with 47 chromosomes are said to have Down syndrome.

The History of Down Syndrome

Down syndrome is a common birth defect and has been existing since centuries, although it was identified only in 1866, when John Langdon Haydon Down, an English physician managed to describe this condition. John Down was a superintendent at an asylum where he observed that many of his patients had similar distinguishing characteristics. He wrote an essay and referred to them as 'Mongoloids'. People from Mongolia were offended and hence this disorder was named after John Down himself.

Dr. Down and his wife were two committed individuals, who dedicated their entire lives caring for people with this syndrome. They opened an asylum called 'Normansfield' and employed teachers, occupational therapists (who taught craft), physical therapists (who conducted sports activities), and even hired musicians and dancers to provide entertainment to their patients. In 1958, a geneticist in Paris, Professor Jerome Lejeune researched and discovered that this disorder was caused due to the presence of an extra 21st chromosome. He called this disorder trisomy 21 due to the presence of three 21 chromosomes. Professor Jerome was also dedicated to his work and spent his entire life researching on this disorder and trying to find a cure.


It has been observed that majority of the cases of Down syndrome are not hereditary. It is very difficult to predict if the parent's egg or sperm will produce an extra chromosome. It is not related to any activity the parents do, or environmental factors in which they live. The extra chromosome can come either from the father or the mother, however, the latter is more common. The saddest part about this disorder is that it cannot be prevented.

It is believed that older women are more prone to give birth to children with this disorder. This is because as age progresses, the chances of a duplicate 21st chromosome is higher. However, most of the women delivering children with 47 chromosomes are below the age of 35, because the number of women bearing children above this age are fewer. The probability of the next child also being born with this defect is 1% irrespective of the age of the mother.

Symptoms and Physical Characteristics

Immediately after the child is born, the doctor can diagnose the syndrome by the physical characteristics of the child. Children born with this disorder have a small abnormally-shaped head, flat face, flat nasal bridge, tiny nose, eyes slanting upwards and outwards, protruding tongue, thick short neck, fine sparse hair, poor muscle tone, broad short hands, a large gap between the first and second toe, and a single crease in the hand. However, it is not necessary that all these symptoms are present in every child. The doctor carries out a blood test called chromosomal karyotype to confirm the disorder.

Besides these physical characteristics, these children are seen to suffer from slow physical and mental development. During the initial diagnosis, the doctor will not be able to identify the extent of the disorder. Each affected child is unique and possesses different disabilities. Hence, generalizations cannot be made. However, it is commonly noticed that these children find it difficult to perform routine daily activities and have slow motor development. Walking, talking, throwing, and other similar activities are delayed in these children.

Down syndrome children are also seen to suffer from other health conditions such as congenital heart disease, skeletal problems, intestinal problems, hearing loss, thyroid malfunctions, eye problems (cataract), celiac disease, and dementia. Children with this disorder are 10-15 times more prone to developing leukemia, early mortality, or even defective development of the spinal cord. Due to mental retardation, not all affected children can live independent lives. However, it should also be noted that not all of these children suffer from such health issues.


There is no treatment available to cure Down syndrome or even prevent it (treatment to cure the secondary health ailments are available). However, early intervention programs which provide professional assistance can be quite helpful to the child. Special educators, occupational therapists, and speech therapists help provide professional healthcare to these children, enabling them to develop their motor and speech skills.

Caring for a child with Down syndrome requires time, patience, diligence, and a good support system. Living at home and in a loving community helps them interact with people and benefit from the surroundings. These children have the same feelings and moods like any other children and require constant encouragement, love, and care. Often parents of these children get together to share their experiences and challenges for moral strength and support.

Disclaimer: This HealthHearty article is for informative purposes only, and should not be used as a replacement for expert medical advice.