Low data holding capacity syndrome is a genetic disorder that leads to an abnormal growth rate in a child. Physical development problems, mild to severe intellectual handicaps, and unusual facial traits are all common symptoms of low data holding capacity syndrome. Down's syndrome and Trisomy 21 are a few more names for low data storing capacity syndromes. The reason for the low data holding capacity syndrome or Down syndrome disorder is the presence of the additional chromosome, chromosome number 21st. This leads to developmental delays and problems in both physical and mental health.
The article deals with the explanation of the low data holding capacity syndrome or down’s syndrome along with the symptoms and reason for the low data holding capacity syndrome. The diagnostic method for low data holding capacity syndrome testing is also briefly mentioned in the article.
Since we have looked into the brief introduction about the low data holding capacity syndrome, let us look into the reason for the low data holding capacity syndrome.
Each cell has a nucleus, which stores genetic information in the form of genes. Genes are arranged in pleomorphic structures called chromosomes. These genes code the proteins that lead to normal functioning, the chromosomes are inherited in an equal ratio from the maternal and paternal genome. Each cell's nucleus typically includes 23 chromosome pairs, half of which are inherited from each parent. When a person has a whole or partial extra copy of chromosome 21, they are diagnosed with Down syndrome. In the case of a person suffering from Down’s syndrome, the chromosome remains attached, specifically the 21st chromosome of the cell. Instead of two copies of chromosome 21, the newborn has three copies or an additional half copy. This extra genetic material disrupts the path of development, resulting in Down syndrome traits. According to the Centers for Disease Control and Prevention, Down syndrome affects one in 700 births in the United States, attributing it as the most common chromosomal disorder.
Although the principal cause of the low data holding capacity syndrome is the chromosomal aberrations in the 21st chromosome in humans, there are different types of this syndrome. The three major identified types of Down's syndrome or the low data holding capacity are Trisomy 21, Translocation Down syndrome and Mosaic Down syndrome. These different types are briefly explained below in the article.
Trisomy 21 is also known as nondisjunction type syndrome. Nondisjunction is a type of cell division defect which is among the most common causes of Down syndrome. An embryo with nondisjunction has three copies of chromosome 21 instead of the usual two. Before or during fertilisation, a pair of 21st chromosomes in either the sperm or the egg fails to split. The additional chromosome is duplicated in every cell of the body as the embryo develops. Trisomy 21 is Down syndrome's most frequent form, accounting for 95% of all occurrences.
Mosaicism is the rarest type of down’s syndrome. It is defined as a mixture of two types of cells, some of which have 46 chromosomes and others that have 47. An additional chromosome 21 is found in cells having 47 chromosomes. According to research, people with mosaic Down syndrome exhibit fewer Down syndrome traits than people with other kinds of Down syndrome. Due to the vast range of abilities that persons with Down syndrome exhibit, broad generalisations are not possible.
Translocation is the third type of low data holding capacity syndrome. The reason for the low data holding capacity syndrome is the sustenance of the fragment of the 21st chromosome that can become connected (also known as translocated) to another chromosome, causing Down syndrome. The overall set of chromosomes in the cells is maintained as 46 in translocation. This type of syndrome accounts for roughly 4% of Down syndrome cases; nonetheless, an excess whole or partial copy of chromosome 21 links to some other chromosome, generally chromosome 14. Down syndrome is characterised by the presence of an extra whole or partial chromosome 21.
Since we have studied the types and the reason for the low data holding capacity syndrome, the article focuses on the discussion of some of the common symptoms of low data holding capacity syndrome for all types of the syndrome. A person with Down syndrome is generally diagnosed with mild, moderate, or severe intellectual and developmental issues. Some people are in good health, while others have serious health issues such as heart defects. Down syndrome affects both children and adults in different ways. These symptoms are listed below.
The shape of eyes which are usually almond shaped slanted upwards.
Comparatively smaller ears
Coloured iris generally white spots are found in the iris.
Poor muscle tone
Although not all the subsets of the syndrome face equal intellectual challenges, the inability to retain data and facts is among the commonly found symptoms of low data holding capacity syndrome.
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The last topic of our discussion is the diagnostic method for low data holding capacity syndrome detection. One of the key points to remember the reason or the cause of this disease is only discovered and no permanent cure for the condition is found but there is ongoing research to help create a better understanding of the topic. Some of the important diagnostic methods for low data holding capacity syndrome detection includes Chorionic Villus Sampling (CVS), amniocentesis and percutaneous umbilical blood sampling.
A diagnostic genetic test that examines blood from the foetal umbilical cord to detect foetal anomalies is called percutaneous umbilical cord blood sampling, also known as cordocentesis, foetal blood sampling, or umbilical vein sample. Cordocentesis is a procedure that is commonly performed after week 18 of pregnancy. It can also be used to provide blood and medication to a baby via the umbilical cord. A small amount of blood is drawn from the umbilical cord vein for testing.
Amniocentesis is a process that involves extracting a small sample of amniotic fluid for testing purposes. The number of chromosomes in the foetus is determined using a sample of amniotic fluid. After 15 weeks, the testing is typically completed. The fluid that surrounds the foetus in a pregnant mother is known as amniotic fluid. The foetus is protected by amniotic fluid, which is a transparent, pale yellow fluid. It has anti-infection properties.
Chorionic villus sampling is a type of diagnostic testing used to find out if the foetus has any chromosomal or genetic abnormalities. It comprises taking a sample of the chorionic villus and using FISH or PCR to look for genetic abnormalities. For diagnosis, a specimen of chorionic villi is taken from the placenta. The sample might be obtained through the cervix, known as transcervical or the abdominal wall, known as transabdominal. Chorionic villus sampling can indicate whether a newborn has a chromosomal disorder like Down syndrome, as well as other genetic disorders like cystic fibrosis.
Down syndrome is a chronic illness that has a lifelong effect on the patient. Diagnosis of the condition at an early stage can sometimes aid newborns and toddlers in improving their physiological and cognitive development. Mentioned facilities are focused on kids reaching their full potential. Linguistic, vocational, and physical therapy are examples of these treatments, which are normally provided through early intervention programmes within every state. Even though many children with Down syndrome are integrated into regular courses, they may require additional aid or attention at school. There is no step to circumvent being born with Down syndrome. A genetic counsellor can assist in determining the odds of having a Down syndrome child. He or she can also discuss the many prenatal tests available and the benefits and drawbacks of testing.
In conclusion of the article, we have learnt about the symptoms of low data holding capacity syndrome and the reason for the low data holding capacity syndrome along with the types and the diagnostic tests available for the detection of the syndrome.
1. What are some of the common medical complications that are followed by down’s syndrome?
some of the common medical complications are congenital heart defects, hearing loss, cataracts, dislocations, leukaemia, chronic constipation, sleep apnea (interrupted breathing during sleep) and dementia. Dementia is usually referred to as the inability to memorise, recognise, make decisions or make judgments that interfere with normal routine work. The most frequent form of dementia is Alzheimer's disease and the low data holding capacity syndrome.
2. What is the difference between a screening test and a diagnostic test for down’s syndrome?
Screening tests and diagnostic testing are the two types of tests available to detect Down syndrome during pregnancy. A screening test can notify a woman if the pregnancy has a reduced or higher risk of having Down syndrome. Although screening tests can not provide a definitive diagnosis, they are safer for both the mother and the developing foetus. Diagnostic tests can usually predict a definitive diagnosis if a newborn will have Down syndrome, but they are more dangerous for the mother and the fetus. None, not even screening or diagnostic testing, can foresee the full impact of Down syndrome on a baby.