What is Down syndrome?

What is Down syndrome?Avoid Down syndrome may be a inherited disease that causes physical issues and intellectual disabilities. it’s most frequently caused by the presence of an additional copy of body variety twenty one. This condition is named Down syndrome.

Each person born with Down’s syndrome is totally different. Some have health issues. These may embody cardiomyopathy, hearing issues, or issues with their intestines. several begin treatment for medical problems early and live full, healthy, productive lives.

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Symptoms of Down’s syndrome

There area unit several signs and symptoms of Down’s syndrome. Some folks have totally different symptoms than others. Some have {different|totally totally different|completely different} issues at different points in their lives. many folks with Down’s syndrome share a definite look. Common physical signs include:

upward, aslope eyes

flattened face expression

protruding tongue

short neck

small head, ears, and mouth

broad hands with short fingers

decreased muscular tonus.

Because of a number of these physical options, youngsters with Down’s syndrome usually develop at a slower rate. This includes once they learn to roll over, sit, stand, and walk. they are doing reach these milestones, however it takes them longer. Physical problems in areas like the center, brain and willal|alimentary tract|digestive tube|digestive tract|gastrointestinal tract|GI tract|duct|epithelial duct|canal|channel} can cause health issues.

In addition to physical signs, folks with Down’s syndrome usually have issues with thinking and learning. These issues include:

short span

poor judgment

impulsive behavior

slow learning

delayed language and speech.

While these types of issues area unit common, they’re seldom severe.

What causes Down syndrome?

Down syndrome is caused by a haul throughout cellular division. This leads to additional genetic material. the additional genetic abnormality the options and issues of Down’s syndrome. There area unit three styles of Down syndrome:

Trisomy 21. during this type, the cellular division issue happens throughout the event of the sperm cell or the egg. this provides the kid 3 copies of body twenty one rather than the traditional 2 copies. Up to ninety fifth of individuals with Down’s syndrome have Down syndrome.

Mosaic Down’s syndrome. Some cells have an additional copy of body twenty one owing to abnormal cellular division within the embryo. this type is rare. just one of Down’s syndrome cases area unit Mosaic.

Translocation Down’s syndrome. Translocation (or shift) happens before or at conception once a part of body twenty one attaches onto another body. it’s the sole variety of Down’s syndrome which will be passed down from parent to kid. this will happen notwithstanding the parent shows no symptoms of Down’s syndrome.

There area unit factors that increase your risk of getting a baby with Down syndrome:

Advanced maternal age. The older the lady is, the older her eggs area unit. Older eggs area unit a lot of possible to divide abnormally. At age 35, your risk of getting a baby with Down’s syndrome is regarding one in 350. At age 40, the chance is one in one hundred. By age 45, your risk is one in thirty.

Already having a baby with Down’s syndrome. If you’ve got a baby with Down’s syndrome, you’ve got a one in one hundred probability of getting another one.

Being a carrier of a body abnormality. each men and ladies will carry the translocation abnormality. If you’re a carrier, you risk passing it on to your kid.

How is Down’s syndrome diagnosed?

Screening for Down’s syndrome may be a traditional a part of antenatal care. Screening choices include:

A biopsy and ultrasound throughout the primary trimester. The biopsy appearance for markers of abnormalities that would indicate Down’s syndrome. The ultrasound appearance at “nuchal uncloudedness.” It detects fluid at the rear of the fetus’s neck. this might indicate associate degree abnormality, as well as Down’s syndrome.

A biopsy within the trimester. this is often referred to as the “triple screen” or “quad screen.” It conjointly appearance for markers within the mother’s blood.

Integrated (combined) take a look at. This approach uses the biopsy and ultrasound from the primary trimester and also the biopsy from the trimester. It comes up with associate degree overall risk rating of Down’s syndrome.

None of the screenings will diagnose Down’s syndrome. They solely indicate that your risk of getting a baby with Down’s syndrome is higher. Some ladies take a look at positive within the screen however have utterly healthy babies.

The only thanks to diagnose Down’s syndrome before birth is thru diagnostic testing. This involves checking the tissue and fluid within the female internal reproductive organ for the additional body. this will be done through:

Chorionic villus sampling (CVS). This takes a sample of the placenta throughout weeks ten and fourteen of physiological state.

Amniocentisis. This takes a sample of the waters throughout weeks fourteen to eighteen of physiological state.

Percutaneous point blood sampling (PUBS). this is often conjointly referred to as cordocentesis. It takes a sample of the foetal blood within the epithelial duct throughout weeks eighteen to twenty two of physiological state. it’s the foremost correct take a look at.

There is a small risk that these tests will cause a miscarriage. therefore these tests area unit used only if there’s the next probability of a genetic downside within the baby. this might be if the mother is thirty five or older or if you’ve got received associate degree abnormal screening result. when birth, your doctor will take a look at the baby’s blood for the additional body. this is often done if the baby has any of the physical signs or birth defects of Down’s syndrome.

Should I be tested?

This call is up to you. Some ladies feel higher if they recognize their risk. they will prepare themselves for the chance of getting a baby World Health Organization has Down’s syndrome. Your doctor will assist you perceive your risks and take into account the professionals and cons of obtaining tested.

Can Down’s syndrome be prevented or avoided?

There is nothing you’ll be able to do to stop or avoid your kid obtaining Down’s syndrome. However, your risk is lower if you’ve got youngsters at a younger age.

Down syndrome treatment

There isn’t one commonplace treatment for Down’s syndrome. A person’s treatment depends on their individual case. This includes their physical and intellectual desires, strengths, and limitations. Having Down’s syndrome puts your kid at augmented risk for variety of health issues. These would like totally different sorts of treatment. Treatments might be one-time (such as surgery) or womb-to-tomb (such as a special diet).

Treatment may begin once your kid may be a baby. this might happen if he or she is born with a haul, like a heart defect. they’ll be screened for alternative issues that unremarkably occur with Down’s syndrome. These embody gland disease, hearing disorder, vision issues, blood disorders, and biological process issues.

Your kid can presumably have a team of health professionals. This team can embody doctors, specialists, and therapists. they’re going to work along to relinquish your kid the treatment and medical care he or she desires. this can permit him or her to measure as productive a life as potential. These embody early intervention, therapies, and helpful devices.

Early intervention

Early intervention involves specialised programs and resources. These area unit provided to babies and toddlers with Down’s syndrome and their families. it always lasts till the kid turns three years previous. analysis has shown that early intervention improves outcomes for these youngsters later in life.

Therapies

There area unit a range of therapies which will facilitate a baby with Down’s syndrome. These include:

Physical therapy – exercises and activities that increase strength, improve posture and balance, and build motor skills. several youngsters with Down’s syndrome have low muscular tonus. physiatrics is notably useful for them.

Speech therapy – helps them communicate higher and improve their language skills. youngsters with Down’s syndrome usually speak later than alternative youngsters. This medical care will facilitate them develop those skills.

Occupational therapy – adjusts everyday activities to the child’s skills. This medical care teaches skills your kid can use a day. These embody uptake, obtaining dressed, and caring for themselves.

Behavioral medical care – helps your kid address his or her condition. sophisticated feelings and behaviors usually go at the side of it. youngsters with Down’s syndrome get pissed off and might develop compulsive behaviors. they’re a lot of possible to own minimal brain dysfunction or alternative mental state problems. medical care with a mental state skilled will facilitate.

Assistive devices

An helpful device is any tool, technology, or piece of apparatus that helps your kid perform a lot of simply. this might embody one thing as straightforward as a changed pencil that produces writing easier. Or it would be a special touchscreen pc that permits your kid to speak.

Living with Down’s syndrome

There area unit alternative health issues that always go at the side of having Down’s syndrome. one and all with Down’s syndrome is totally different. Your kid could or might not have or develop any of those alternative conditions.

Poor muscular tonus. This makes it more durable for them to find out to roll over, not blink and walk. physiatrics will facilitate with these issues.

Heart defects. regarding 1/2 babies World Health Organization have Down’s syndrome even have a heart downside. associate degree ultrasound examination of your baby’s heart can show any defects. Surgery could also be necessary to mend the center issues related to Down’s syndrome.

Digestive issues. Some babies World Health Organization have Down’s syndrome have issues swallowing. Others could have blockages in their intestines. Surgery could also be necessary to mend these issues. Once they’re fastened, they typically cause no additional damage. youngsters area unit a lot of possible to own disorder. This causes enteral issues once they eat protein, a macromolecule in wheat.

Hearing issues. Up to seventy fifth of kids with Down’s syndrome have issues with their hearing. they have regular hearing screenings and would possibly ought to have the issues corrected.

Vision issues. Some babies have eye issues, like cataracts(cloudy lenses) or crossed eyes. Corrective lenses or surgery could also be necessary to mend these issues.

Infections. Down’s syndrome causes issues with the system that produces it more durable to fight infection. Your kid could have colds, ear infections, and sinus infections a lot of usually than alternative youngsters. It’s vital for kids with Down’s syndrome to receive all of their suggested vaccines.

Blood disorders. Those with Down’s syndrome area unit a lot of possible to own blood issues. These may embody anemia (low iron) and blood disorder (high levels of red blood cells). youngsters with Down’s syndrome area unit a lot of possible to develop leukaemia (cancer of the white blood cells).

Premature aging. Adults with Down’s syndrome will develop health issues unremarkably caused by aging. These embody dementedness, blackout, high sterol, diabetes, cataracts, and early biological time.

Learning disabilities. At birth, it isn’t potential to inform however good a baby World Health Organization has Down’s syndrome are going to be. Intelligence ranges from low traditional to terribly slow to find out.

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