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What is Down Syndrome?  Ritansha Rajgarhia

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What is Down Syndrome?  Ritansha Rajgarhia

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Down Syndrome is a condition in which a person has an extra chromosome. Chromosome are small packages of genes in the body. They determine how a baby's body forms and functions as it grows during pregnancy and after birth. This extra genetic material causes the developmental changes and physical features of Down Syndrome.

- It is also known as 'trisomy 21'.
- People with this condition have a flat, wide face and lower than average intelligence.
- A genetic chromosome 21 disorder causes developmental and intellectual changes.

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Down syndrome is a chromosomal disorder. The occurrence of Down syndrome is 1:800 live births. Down syndrome is caused due to abnormal cell division. During cell division the chromosome pair separate so that each cell gets a copy of each chromosome. In down syndrome, the chromosomes are not able to separate, giving rise to cells with an unequal number of chromosomes. This phenomenon is called nondisjunction. Any one of three genetic variations can cause Down syndrome:

Trisomy 21. About 95 percent of the time, Down syndrome is caused by trisomy 21 — the person has three copies of chromosome 21, instead of the usual two copies, in all cells. This is caused by abnormal cell division during the development of the sperm cell or the egg cell.

Mosaic Down syndrome. In this rare form of Down syndrome, a person has only some cells with an extra copy of chromosome 21. This mosaic of normal and abnormal cells is caused by abnormal cell division after fertilization.

Translocation Down syndrome. Down syndrome can also occur when a portion of chromosome 21 becomes attached (translocated) onto another chromosome, before or at conception. These children have the usual two copies of chromosome 21, but they also have additional genetic material from chromosome 21 attached to another chromosome.

There are no known behavioral or environmental factors that cause Down syndrome.

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Sachi

Children and adults with Down syndrome have distinct facial features. Though not all people with Down syndrome have the same features, some of the more common features include:

Flattened face

Small head

Short neck

Protruding tongue

Upward slanting eye lids (palpebral fissures)

Unusually shaped or small ears

Poor muscle tone

Broad, short hands with a single crease in the palm

Relatively short fingers and small hands and feet

Excessive flexibility

Tiny white spots on the colored part (iris) of the eye called Brushfield's spots

Short height

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By Vaani Somani

Aside from its effects on appearance, Down syndrome can cause a number of medical complications. Some of these complications are more serious than others, but most of them can be treated.

Potentially serious complications — The most serious complications of Down syndrome include heart defects, blood disorders that can include leukemia (cancer of the blood), and immune system problems.

Heart defects — Approximately half of all babies with Down syndrome are born with (often repairable) heart defects. Usually, these defects affect the walls separating the four chambers of the heart.

Blood disorders — Down syndrome can cause blood cell abnormalities, including a form of blood cancer called leukemia.

Height and weight — Babies with Down syndrome are usually smaller than other babies, and they have smaller heads. They may also grow more slowly and may never reach the same heights that typical children do. Although children with Down syndrome grow less than usual, they tend to gain more weight, possibly from a slower metabolism. As a result, parents need to guard against obesity by encouraging exercise and, if necessary, limiting the amount of food the child eats.

Vision — Most children with Down syndrome have some sort of vision problem, such as nearsightedness, farsightedness, or astigmatism (an abnormal curvature of the eye that causes blurred vision). They may also have weak eye muscles (cross-eyed) or have abnormal eye movements that impair vision. Glasses can often correct these problems.

Intellectual disability — Almost all babies born with Down syndrome are intellectually disabled, but the degree of impairment can vary a lot. Despite the disability, most children with Down syndrome can learn basic tasks; they just take a little longer than other babies to do so.

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There are three types of Down syndrome: Trisomy 21 (nondisjunction), Mosaicism, and Translocation. Listed below are two of them.

Trisomy 21 (Nondisjunction)

Down syndrome is usually caused by an error in cell division called “nondisjunction.” Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual two. Prior to or at conception, a pair of 21st chromosomes in either the sperm or the egg fails to separate. As the embryo develops, the extra chromosome replicates in every cell of the body. This type of Down syndrome, Trisomy 21, accounts for 95% of cases.

Mosaicism

Mosaicism (or mosaic Down syndrome) exists when there are a mixture of two types of cells, some containing the usual 46 chromosomes and some containing 47. Those cells with 47 chromosomes contain an extra chromosome 21. Mosaicism is the least common form of Down syndrome. It accounts for only about 1% of all cases of Down syndrome. Research indicates that individuals with mosaic Down syndrome may have fewer characteristics of Down syndrome than those with other types of Down syndrome. However, broad generalizations are not possible due to the wide range of abilities people with Down syndrome possess.

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By Riya Samdhani

While there is no cure for Down Syndrome, there are therapies, treatments, and educational support available to improve the quality of life of those affected. The exact course of treatment will depend on the individual, taking into account the person’s age, overall health, environment, and personal strengths and limitations.

SPEECH LANGUAGE THERAPY : Speech language therapy addresses communication and language skills by focusing on articulation, cognitive skills, and strengthening the oral muscles (tongue, lips). Speech language therapy can be employed at the infant and toddler stages. The overall goal is to improve the child’s ability to communicate.
PHYSICAL THERAPY : Physical therapy focuses on improving how a person moves. Because children and adults with Down Syndrome commonly have poor muscle tone and smaller hands, physical therapy can allay any difficulties caused by these traits. A physical therapy regimen will likely include strengthening and toning muscles, improving overall coordination and balance, and correcting posture.
OCCUPATIONAL THERAPY : Like the name suggests, occupational therapy is designed to improve the day-to-day skills necessary for living a healthy life and successfully navigating society. Unlike physical therapists, occupational therapists work on improving fine motor skills and the performance of daily tasks like getting dressed, brushing one’s teeth, and eating. As the child gets older, the focus will shift to skills like writing and using a computer.
ASSISTIVE TECHNOLOGY : Assistive technology is a term used to describe devices that help a person with a disability function better. These devices can be anything from hearing aids, pencil/pen grips, seat cushions and walking aids to large-button mobile phones and large-letter keyboards. Touchscreen tablets and computers are useful for children with Down Syndrome who struggle with performing fine motor movements. Educational software approaches learning via interaction and implementing sight, sound, and touch, which can make lessons more accessible and appealing.
SPECIAL EDUCATION : Children with Down Syndrome qualify for special education under the U.S. Individuals with Disabilities Education Act (IDEA). This means that educational services and accommodations should be made available to these children until they either finish high school or reach the age of 21. These services and accommodations will be delineated through an Individualized Education Plan (IEP) drawn up by the school, parents, and health professionals.

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How to detect down syndrome after birth?

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How to detect down syndrome after birth?

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After birth, your baby’s provider gives your baby a physical exam and checks for common physical characteristics of Down syndrome. To confirm your baby has Down syndrome, she sends a sample of your baby’s blood to a lab for testing.
A person with Down syndrome may have distinct physical characteristics, including:

Facial features. Most babies with Down syndrome have some of these characteristics:

A flattened face, with a flat nose

Almond-shaped eyes that slant up

A small mouth

A tongue that may stick out of the mouth

Tiny white spots on the iris (colored part) of the eye

Other physical characteristics. Babies and children with Down syndrome may have some of these characteristics:

A short neck

Small hands and feet. They also may have small pinky fingers that sometimes curve towards the thumb.

A single line across the center of the palm of the hand (also called a palmar crease)

Small ears

Low muscle tone (also called hypotonia) or loose joints

Short height

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Translocation

Translocation Down syndrome refers to the type of Down syndrome that is caused by rearranged chromosome material. In this case, there are three # 21 chromosomes, just like there are in trisomy 21, but one of the 21 chromosomes is attached to another chromosome, instead of being separate. The extra copy of the # 21 chromosome is what causes the health problems that are associated with Down syndrome. 3 - 4% of babies born with Down syndrome have translocation Down syndrome. Whenever a translocation is found in a child, the parents' chromosomes are studied to determine whether the translocation was inherited or not.

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How to detect down syndrome before birth?

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How to detect down syndrome before birth?

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By Eshani Roy Barman

1) Prenatal tests- these tests are optional tests which can be done by a pregnant woman. The test identifies the fetus's sex, age, size and placement in the uterus. It also detect chromosomal conditions such as Down syndrome.

2) Screening tests -they determine the likelihood of Down syndrome and other medical conditions without providing a definite diagnosis.

The different types of screening tests include:
a)blood tests -that measure protein and hormone levels in pregnant women. Abnormal levels, whether high or low, can indicate a genetic condition.
b)ultrasound- a non-invasive imaging technique that uses sound waves to generate an image of the fetus. An ultrasound can identify structural changes such as extra skin at the base of the neck that may indicate Down syndrome.

3) Diagnostic tests- Diagnostic tests can determine whether a fetus has Down syndrome with nearly 100 percent accuracy. However, because these tests require using a needle to obtain a sample from within the uterus, they carry a small increased risk of miscarriage and other complications.
Diagnostic test options include:
a)chorionic villus sampling (CVS)- a prenatal diagnosis method in which a small biopsy of the placenta is taken for specific genetic testing. CVS is used to detect any condition that involves specific chromosomal abnormalities, like Down syndrome. This test is usually performed during the first trimester between 10-14 weeks of gestation.
b)amniocentesis- a prenatal diagnosis method in which a needle is inserted into the amniotic sac that surrounds the fetus. Amniocentesis is most often used to detect Down syndrome and other chromosomal abnormalities. This test is usually done in the second trimester, after 15 weeks of gestation.

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BY KUSHANS:
RIYA SAMDHANI
VAANI SOMANI
PARIDHI DALMIA
PREKSHA AGARWALA
ESHANI ROY BARMAN
SACHI SARAF
RITANSHA RAJGARHIA
NAVYAA GUPTA