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Down syndrome : Causes, Types, Symptoms, Diagnosis ,Treatment , Risk factors , Complications , Prevention

What Is Down Syndrome?

Down syndrome is a circumstance wherein a person has an additional chromosome. Chromosomes are small “programs” of genes in the frame. They decide how a child’s body functions and capabilities because it grows during being pregnant and after beginning. Typically, an infant is born with forty six chromosomes. Babies with Down syndrome have an additional copy of this kind of chromosome, chromosome 21. A medical term for having a further reproduction of a chromosome is ‘trisomy.’ Down syndrome is likewise referred to as Trisomy 21. This greater copy changes how the baby’s frame and brain develop, which may cause each mental and bodily demanding situation for the baby.

Even though humans with Down syndrome might act and appear comparable, everyone has exclusive competencies. People with Down syndrome normally have an IQ (a measure of intelligence) within the mildly-to-fairly low variety and are slower to talk than other children.

Down syndrome is a genetic situation that causes mild to extreme bodily and developmental issues.

People with Down syndrome are born with a further chromosome. Chromosomes are bundles of genes, and your body is based on having just the proper number of them. With Down syndrome, this greater chromosome ends in a number of troubles that have an effect on you each mentally and physically.

Down syndrome is a lifelong circumstance. Although it couldn't be cured, docs know more about it now than ever. If your toddler has it, getting the proper care early on could make a massive difference in supporting them to stay a complete and significant existence.

What Is Down Syndrome

Explanation of medical terms and concept Down syndrome

Down syndrome is a genetic sickness caused by strange cellular division outcomes in an additional complete or partial replica of chromosome 21. This extra genetic material causes the developmental changes and bodily features of Down syndrome.

Down syndrome varies in severity among individuals, inflicting lifelong intellectual incapacity and developmental delays. It's the maximum commonplace genetic chromosomal sickness and purpose of getting to know disabilities in kids. It additionally normally causes different scientific abnormalities, together with coronary heart and gastrointestinal disorders.

Better know-how of Down syndrome and early interventions can substantially boost the excellent lifestyles for kids and adults with this disease and assist them stay pleasing lives.

signs and symptoms Down syndrome is a genetic disorder that causes both physical and mental issues Physical signs can include small stature an upward slant to the eyes a single deep crease across the center of the palm of the hand and an abnormal-looking tongue Mental issues associated with Down syndrome include learning disabilities delayed development in speech and language skills and mild to moderate intellectual disability.

is a genetic disorder that Down syndrome is a genetic disorder that affects development and can cause medical complications Someone with Down syndrome has an extra copy of chromosome 21 which causes developmental delays and certain health issues in infants and children With proper treatment and care most people with Down syndrome lead active healthy lives People with Down syndrome may have some or all of the following characteristics: Small stature Facial features such as a flat nose small mouth and almond-shaped eyes Intellectual disability or mild to moderate learning difficulties Unusual sleep patterns or seizures A life expectancy of about 50 years.

Types of Down Syndrome

There are 3 sorts of Down syndrome. People regularly can’t tell the distinction between every type without searching on the chromosomes due to the fact that bodily features and behaviors are comparable.

  • Trisomy 21: About 95% of humans with Down syndrome have Trisomy 21.2 With this form of Down syndrome, each mobile inside the body has 3 separate copies of chromosome 21 in place of the usual 2 copies.

  • Translocation Down syndrome: This kind debts for a small percent of people with Down syndrome (approximately three%).2 This happens while a further component or an entire more chromosome 21 is gift, but it is connected or “trans-placed” to a one of a kind chromosome in preference to being a separate chromosome 21.

  • Mosaic Down syndrome: This type impacts approximately 2% of the humans with Down syndrome.2 Mosaic manner aggregate or aggregate. For kids with mosaic Down syndrome, a number of their cells have three copies of chromosome 21, however different cells have the everyday two copies of chromosome 21. Children with mosaic Down syndrome may additionally have the equal functions as different children with Down syndrome. However, they'll have fewer capabilities due to the presence of a few (or many) cells with an ordinary range of chromosomes.

Symptoms Down syndrome

Down syndrome can have many consequences, and it’s one of a kind for anyone. Some will develop up to live nearly totally on their own, even as others will want greater help taking care of themselves.

Mental talents range, but most of the people with Down syndrome have moderate to mild problems with thinking, reasoning, and expertise. They’ll examine and choose new capabilities in their complete lives, however they will take longer to attain important desires like walking, speakme, and growing social capabilities.

Each individual with Down syndrome is an individual — highbrow and developmental troubles may be mild, slight or severe. Some humans are healthful at the same time as others have good sized fitness problems including extreme coronary heart defects.

Children and adults with Down syndrome have awesome facial features. Though no longer all people with Down syndrome have the identical capabilities, some of the extra 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

Infants with Down syndrome can be common length, but generally they grow slowly and remain shorter than other children the identical age.

Intellectual disabilities

Most children with Down syndrome have slight to mild cognitive impairment. Language is behind schedule, and each short and long-time period memory is affected.

When to see a doctor

Children with Down syndrome generally are recognized before or at delivery. However, if you have any questions regarding your pregnancy or your baby's growth and improvement, talk with your medical doctor.

Causes Down syndrome

Most cases of Down syndrome end result from trisomy 21, which means that every cell inside the frame has 3 copies of chromosome 21 as opposed to the usual two copies.

Less usually, Down syndrome occurs when a part of chromosome 21 turns into connected (translocated) to every other chromosome all through the formation of reproductive cells (eggs and sperm) in a discern or very early in fetal improvement. Affected people have  everyday copies of chromosome 21 plus greater material from chromosome 21 connected to some other chromosome, ensuing in 3 copies of genetic fabric from chromosome 21. Affected people with this genetic trade are stated to have translocation Down syndrome.

A very small percentage of human beings with Down syndrome have an extra copy of chromosome 21 in only a few of the frame's cells. In these human beings, the condition is called mosaic Down syndrome.

Researchers consider that having greater copies of genes on chromosome 21 disrupts the course of ordinary improvement, inflicting the feature functions of Down syndrome and the elevated risk of health troubles associated with this condition.

Human cells typically comprise 23 pairs of chromosomes. One chromosome in each pair comes out of your father, the other out of your mom.

Down syndrome outcomes whilst abnormal mobile division related to chromosome 21 occurs. These mobile division abnormalities bring about an extra partial or full chromosome 21. This greater genetic material is answerable for the characteristic functions and developmental problems of Down syndrome. Any certainly one of three genetic variations can motive Down syndrome:

  • Trisomy 21. About 95 percent of the time, Down syndrome is as a result of trisomy 21 — the person has three copies of chromosome 21, as opposed to the usual  copies, in all cells. This is because of odd cellular division throughout the development of the sperm mobile or the egg cell.

  • Mosaic Down syndrome. In this rare shape of Down syndrome, someone has only some cells with a further reproduction of chromosome 21. This mosaic of ordinary and strange cells is as a result of abnormal cell department after fertilization.

  • Translocation Down syndrome. Down syndrome also can arise when a portion of chromosome 21 turns connected (translocated) onto another chromosome, before or at conception. These kids have the standard  copies of chromosome 21, however in addition they have extra genetic fabric from chromosome 21 connected to another chromosome.

There are not any acknowledged behavioral or environmental elements that purpose Down syndrome.

Is it inherited?

Most of the time, Down syndrome is not inherited. It's resulting from a mistake in cell division at some point of early development of the fetus.

Translocation Down syndrome may be handed from figure to child. However, approximately three to 4 percent of children with Down syndrome have translocation and only some of them inherited it from considered one of their parents.

When balanced translocations are inherited, the mum or dad has a few rearranged genetic fabric from chromosome 21 on any other chromosome, however no more genetic material. This approach has no signs and symptoms or symptoms of Down syndrome, however can bypass an unbalanced translocation directly to children, causing Down syndrome in the youngsters.

Risk factors Down syndrome

Some mothers and fathers have a greater chance of having a baby with Down syndrome. Risk elements encompass:

  • Advancing maternal age. A female's chances of giving birth to a toddler with Down syndrome grow with age due to the fact older eggs have an extra hazard of flawed chromosome division. A girl's risk of conceiving an infant with Down syndrome will increase after 35 years of age. However, maximum youngsters with Down syndrome are born to ladies under age 35 due to the fact younger ladies have a long way more babies.

  • Being carriers of the genetic translocation for Down syndrome. Both ladies and men can pass the genetic translocation for Down syndrome directly to their youngsters.

  • Having had one child with Down syndrome. Parents who have one baby with Down syndrome and parents who've a translocation themselves are at an improved chance of having any other toddler with Down syndrome. A genetic counselor can help dad and mom check the danger of getting a 2d child with Down syndrome.

Complications

People with Down syndrome will have a variety of headaches, a number of which end up extra distinguished as they become old. These complications can include:

  • Heart defects. About half of the kids with Down syndrome are born with a few forms of congenital heart illness. These coronary heart issues can be life-threatening and may require surgical treatment in early infancy.

  • Gastrointestinal (GI) defects. GI abnormalities occur in some children with Down syndrome and can encompass abnormalities of the intestines, esophagus, trachea and anus. The danger of developing digestive troubles, along with GI blockage, heartburn (gastroesophageal reflux) or celiac ailment, may be extended.

  • Immune disorders. Because of abnormalities in their immune systems, people with Down syndrome are at extended threat of growing autoimmune issues, a few kinds of cancer, and infectious diseases, which include pneumonia.

  • Sleep apnea. Because of tender tissue and skeletal adjustments that cause the obstruction in their airlines, kids and adults with Down syndrome are at greater threat of obstructive sleep apnea.

  • Obesity. People with Down syndrome have a more tendency to be obese in comparison with the overall populace.

  • Spinal problems. Some people with Down syndrome can also have a misalignment of the pinnacle two vertebrae inside the neck (atlantoaxial instability). This condition places them vulnerable to extreme injury to the spinal twine from overextension of the neck.

  • Leukemia. Young kids with Down syndrome have an increased threat of leukemia.

  • Dementia. People with Down syndrome have a significantly extended threat of dementia — signs and symptoms and signs may additionally start around age 50. Having Down syndrome also increases the hazard of growing Alzheimer's disease.

  • Other problems. Down syndrome may also be associated with other fitness situations, consisting of endocrine problems, dental troubles, seizures, ear infections, and listening to and imaginative and prescient problems.

For people with Down syndrome, getting recurring hospital therapy and treating problems while needed can assist with retaining a healthy lifestyle.

Life expectancy

Life spans have improved dramatically for people with Down syndrome. Today, a person with Down syndrome can expect to live extra than 60 years, depending on the severity of health troubles.

Prevention

There's no way to save you from Down syndrome. If you're at excessive danger of getting a toddler with Down syndrome or you already have one child with Down syndrome, you may want to consult a genetic counselor earlier than becoming pregnant.

A genetic counselor assists you to apprehend your probabilities of having a child with Down syndrome. He or she can also provide an explanation for the prenatal tests which might be to be had and assist explain the pros and cons of trying out.

Diagnosis Down syndrome

People with a higher risk of getting a baby with Down syndrome might get hold of screeningTrusted Source and diagnostic tests.

There are  classes of screening checks that docs can perform.

Prenatal monitors can estimate the probability of someone having a toddler with Down syndrome and justify similar checks, however they do not now diagnose Down syndrome.

Diagnostic tests can definitively inform whether or not a fetus can have the situation and discover certain abnormalities.

The American College of Obstetricians and Gynecologists recommends imparting the choice of screening checks and diagnostic tests for Down syndrome to all pregnant ladies, no matter age.

  • Screening tests Can suggest the likelihood or probabilities that a mom is wearing a child with Down syndrome. But those tests cannot tell for certain or diagnose whether or not the toddler has Down syndrome.

  • Diagnostic tests Can identify or diagnose whether or not your toddler has Down syndrome.

Your health care issuer can discuss the sorts of tests, advantages and disadvantages, benefits and risks, and the which means of your consequences. If appropriate, your issuer may also advocate which you communicate to a genetics counselor.

Screening tests during pregnancy

Screening for Down syndrome is obtainable as a habitual part of prenatal care. Although screening checks can most effectively become aware of your danger of wearing a toddler with Down syndrome, they permit you to make decisions about greater-particular diagnostic tests.

Screening exams encompass the primary trimester blended take a look at and the included screening test.

The first trimester combined test

The first trimester mixed take a look at, that's done in  steps, consists of:

  • Blood test. This blood takes a look at measures the levels of being pregnant-associated plasma protein-A (PAPP-A) and the pregnancy hormone called human chorionic gonadotropin (HCG). Abnormal ranges of PAPP-A and HCG may additionally suggest a problem with the child.

  • Nuchal translucency test. During this test, an ultrasound is used to grade a selected area on the back of your child's neck. This is known as a nuchal translucency screening check. When abnormalities are present, greater fluid than normal tends to accumulate in this neck tissue.

Using your age and the consequences of the blood take a look at and the ultrasound, your doctor or genetic counselor can estimate your chance of having a baby with Down syndrome.

Integrated screening test

The incorporated screening take a look at is executed in two components all through the first and second trimesters of being pregnant. The consequences are combined to estimate the risk that your toddler has Down syndrome.

  • First trimester. Part one consists of a blood test to measure PAPP-A and an ultrasound to measure nuchal translucency.

  • Second trimester. The quad display screen measures your blood level of four pregnancy-associated materials: alpha fetoprotein, estriol, HCG and inhibin A.

Diagnostic tests during pregnancy

If your screening check results are wonderful or worrisome, or you are at high hazard of having a baby with Down syndrome, you might keep in mind more checking to affirm the prognosis. Your health care provider will let you weigh the pros and cons of these exams.

Diagnostic checks that could discover Down syndrome consist of:

  • Chorionic villus sampling (CVS). In CVS, cells are taken from the placenta and used to research the fetal chromosomes. This test is generally finished in the first trimester, among 10 and 13 weeks of pregnancy. The hazard of pregnancy loss (miscarriage) from a CVS could be very low.

  • Amniocentesis. A sample of the amniotic fluid surrounding the fetus is withdrawn via a needle inserted into the mom's uterus. This pattern is then used to investigate the chromosomes of the fetus. Doctors normally perform this test within the 2d trimester, after 15 weeks of being pregnant. This test also includes a very low risk of miscarriage.

Preimplantation genetic diagnosis is a choice for couples present in vitro fertilization who're at extended threat of passing alongside positive genetic conditions. The embryo is examined for genetic abnormalities before it is implanted inside the womb.

Diagnostic tests for newborns

After delivery, the preliminary prognosis of Down syndrome is regularly based on the child's look. But the features associated with Down syndrome can be located in infants without Down syndrome, so your fitness care issuer will probably order a take a look at a chromosomal karyotype to verify diagnosis. Using a pattern of blood, this takes a look at analyzing your baby's chromosomes. If there may be a further chromosome 21 in all or some cells, the diagnosis is Down syndrome.

Treatment Down syndrome

Down syndrome is a lifelong situation. Services early in lifestyles will frequently assist babies and youngsters with Down syndrome to enhance their physical and intellectual talents. Most of these services' recognition of assisting children with Down syndrome broaden to their complete capability. These services consist of speech, occupational, and physical therapy, and they may be usually offered via early intervention programs in each country. Children with Down syndrome may want greater assistance or interest in college, although many children are blanketed in regular lessons.

Early intervention for toddlers and children with Down syndrome can make a primary difference in enhancing their nice lifestyles. Because every child with Down syndrome is particular, treatment will rely on a person 's needs. Also, unique tiers of life might also require one-of-a-kind services.

Team care

If your infant has Down syndrome, you may probably depend on a group of professionals that can offer medical care and help her or him expand their talents as completely as feasible. Depending to your baby's particular wishes, your crew might also include some of those experts:

  • Primary care pediatrician to coordinate and provide routine childhood care

  • Pediatric cardiologist

  • Pediatric gastroenterologist

  • Pediatric endocrinologist

  • Developmental pediatrician

  • Pediatric neurologist

  • Pediatric ear, nose and throat (ENT) specialist

  • Pediatric eye doctor (ophthalmologist)

  • Audiologist

  • Speech pathologist

  • Physical therapist

  • Occupational therapist

You'll want to make critical choices about your child's remedy and education. Build a group of healthcare companies, instructors and therapists you accept as true with. These professionals can help compare the assets to your location and give an explanation for kingdom and federal applications for youngsters and adults with disabilities.

Coping and support

When you analyze your toddler has Down syndrome, you can enjoy various emotions, including anger, fear, fear and sorrow. You may not understand what to expect, and you could worry about your ability to care for a toddler with a disability. The best antidote for worry and fear is records and aid.

Consider these steps to put together yourself and to care for your child:

  • Ask your health care provider about early intervention programs in your area. Available in most states, those special programs offer infants and younger youngsters with Down syndrome stimulation at an early age (typically until age 3) to broaden motor, language, social and self-assist talents.

  • Learn about educational options for school. Depending on your toddler's desires, which can mean attending everyday classes (mainstreaming), unique training instructions or each. With your health care group's guidelines, work with the faculty to understand and select suitable options.

  • Seek out other families who are dealing with the same issues. Most communities have support companies for mothers and fathers of kids with Down syndrome. You also can find net guide companies. Family and friends can also be a supply of information and guidance.

  • Participate in social and leisure activities. Take time for a circle of relatives outings and look for your network for social sports inclusive of park district packages, sports teams or ballet training. Although a few adaptations can be required, kids and adults with Down syndrome can revel in social and amusement activities.

  • Encourage independence. Your baby's abilities may be exceptional from different kid's capabilities, however with your assistance and a little practice your child may be capable of carrying out duties including packing lunch, dealing with hygiene and dressing, and doing mild cooking and laundry.

  • Prepare for the transition to adulthood. Opportunities for residing, running, and social and entertainment sports may be explored before your toddler leaves college. Community residing or institution houses, and network employment, day packages or workshops after excessive faculty require a few strengthened planning. Ask for opportunities and help in your place.

Expect a shiny future. Most people with Down syndrome live with their families or independently, visit mainstream colleges, study and write, participate in the community, and feature jobs. People with Down syndrome can live pleasant lives.

General summary

Down syndrome is one of the most common chromosome abnormalities occurring in about 1 in 800 live births The syndrome was named for John Langdon Down who first described it in 1866. Down's syndrome results from an extra copy of chromosome 21. Of the three copies (genes) on chromosome 21 two are duplicated and one is lost or altered The extra genetic material alters the course of development and causes the characteristics associated with Down syndrome.

Is there any treatment and cures for Down syndrome?

There is no cure for Down syndrome but it can be treated with physical therapy to help with mobility issues and speech therapy to improve social skills and language development Children with Down syndrome will need special education throughout their school years in order to learn to read write and communicate effectively They will also require regular health check-ups for common ailments like respiratory problems thyroid issues and heart disease.

Can Down syndrome be treated or prevented?

Down syndrome can be treated but it is not preventable. Treatments for Down syndrome include occupational therapy, speech therapy, physical therapy and surgery. Many children with Down syndrome learn to speak, walk and feed themselves. They often enjoy an active social life and have strong family support systems. Research continues toward a cure for this condition.

Can Down syndrome go away?

This is a common question asked by people who have children with Down syndrome or are considering having a child The answer is no Down syndrome can not go away In order to avoid any confusion we need to be clear about what "go away" means It does not mean that the child will get better or that he/she will grow out of it What it means is that the child may lose some of the characteristics that make him/her look different from other children.

Is there a cure for Down syndrome during pregnancy?

One of the most frequent questions is whether there is a cure for Down syndrome during pregnancy. The answer is no Down syndrome cannot be prevented or cured but in some cases it can be treated. Research and development works towards finding ways to treat the complications that often result from Down syndrome.

Can folic acid prevent Down syndrome?

The only well-documented risk factor for Down syndrome is the mother's age. The older a woman is when she becomes pregnant the greater her chances of bearing a child with Down syndrome.

What vitamins prevent Down syndrome?

Besides taking care of her health in general, a pregnant woman can also take care of her baby's health by eating healthy food and taking vitamins. Taking prenatal vitamins during pregnancy has been shown to reduce the risk of Down syndrome by up to 40 percent.

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Down syndrome  : Causes, Types, Symptoms, Diagnosis ,Treatment , Risk factors  , Complications , Prevention

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