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World Down Syndrome Day 2022: Down syndrome, a genetic condition, was first described by British physician John Langdon Haydon Down in the year 1862, but it was only in 1959, the French physician Jérôme Lejeune identified Down syndrome as a chromosomal condition. In Down syndrome, a person is born with an extra chromosome which can cause physical and mental challenges in the infant. A child with down syndrome is usually shorter than the rest, with flattened face, slender neck, protruding tongue, muscle tone issues etc. (Also read: Sofía Jirau becomes first model with Down Syndrome to pose for Victoria’s Secret)
World Down Syndrome Day is observed annually on March 21 to raise public awareness of the genetic condition. 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, according to United Nations.
What is Down syndrome
“Down syndrome is a genetic condition produced by an additional whole or partial copy of chromosome 21 due to faulty cell division and is characterized by developmental delays and physical characteristics caused by excess genetic material, Dr. Yogesh Kumar Gupta, Head of Pediatric Intensive Care Unit, Fortis Hospitals, Bannerghatta Road, Bengaluru told HT Digital.
People with Down syndrome suffer from developmental delays and cognitive impairment and is a leading cause of learning impairments in children. It can also create other health issues, such as cardiac and gastrointestinal problems.
Symptoms of Down syndrome
“Individual Down syndrome symptoms can range from mild to severe intellectual and developmental impairments, with some people arriving in normal health and others presenting with catastrophic health problems such as heart defects,” says Dr Gupta.
“Although Down syndrome infants are normally of ordinary size, they grow slowly and remain shorter than other children their age. The majority of Down syndrome children have mild to moderate cognitive impairment, with both short and long-term memory compromised as well as delayed language,” he added.
Diagnosis
Down syndrome is commonly discovered during the course of a pregnancy. If not detected, the infant’s appearance can usually be used to diagnose the condition.
“In such circumstances, a blood test examining the child’s chromosomes should be used to confirm the diagnosis (karyotype). This is critical for both significant and minor issues. Children, for example, may require corrective surgery to address a cardiac abnormality, require eyeglasses or hearing aids not only to improve their vision or hearing but also their learning and comprehension abilities,” says Dr Gupta.
Risk factors
Some parents are more likely to have a child with Down syndrome. Some of the risk factors include:
* Because older eggs have a higher risk of incorrect chromosomal division, a woman’s odds of having a kid with Down syndrome grow post 35 years of age. However, since younger women have considerably more infants, most Down syndrome children are born to women under the age of 35.
* Parents with a Down syndrome child or a translocation are more likely to have another child with the same condition. A genetic counsellor can help parents figure out how likely it is that they will have another child with Down syndrome.
* In general, Down syndrome is not hereditary. It’s triggered by an abnormality in cell division during the foetus’s early development. However, Translocation Down syndrome can be passed down through generations, with only around 3 to 4% of Down syndrome children acquiring it from one of their parents.
Average life expectancy
“Life expectancy for people with Down syndrome has grown considerably, people with Down syndrome can now expect to live for more than 60 years, depending on their health concerns,” says the expert.
Treatment
“Although there is no specific treatment for Down syndrome, there are a number of therapies that can help with the condition’s problems. As a result, screening children for these disorders at frequent intervals during their childhood is crucial,” concludes Dr Gupta.
(With inputs from Dr Yogesh Kumar Gupta, Head of Pediatric Intensive Care Unit, Fortis Hospitals, Bannerghatta Road, Bengaluru)
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