Why Do All Babies With Down Syndrome Look the Same

Down's syndrome is a genetic disorder in which there is an actress total or partial chromosome 21. For most people with Down's syndrome, this anomaly causes a host of distinctive concrete characteristics likewise as potential health and medical problems. The exception are those who take the relatively rare grade of Downward syndrome called mosaic Down syndrome, in which not all cells have an extra chromosome 21. A person with this type of Downward syndrome may have all the features of total trisomy 21, a few of them, or none at all.

Many characteristics of full trisomy 21 are quite noticeable—a round confront and upturned eyes, and a short, stocky build, for instance. People with Down syndrome sometimes move awkwardly, usually due to low musculus tone (hypotonia) at nativity that can interfere with concrete development.

Downwardly syndrome also is associated with developmental delays and intellectual challenges, though it'due south important to remember that the extent of these varies widely.

Technically speaking, parents and doctors look for signs of Down's syndrome, rather than symptoms. These may be seen one time a child is born or, in some cases, in utero.

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Physical Characteristics

The kickoff indication a child might have Down's syndrome tin can announced during routine prenatal testing. In a maternal blood test called the quadruple screen, elevated levels of certain substances tin can be a carmine flag for Down syndrome just exercise non mean a baby definitely has the disorder.

Visible Signs

On an ultrasound (an image of a developing fetus, also called a sonogram), visible signs a baby may accept Down syndrome include:

Excess pare in the back of the neck (nuchal translucency)
A shorter-than-normal femur (thigh) bone
A missing olfactory organ bone

These signs prompt wellness providers to recommend an amniocentesis or chorionic villi sampling (CVS), both prenatal tests that examine cells taken from the amniotic fluid or the placenta, respectively and that can confirm a diagnosis of Down syndrome. Some parents opt for these tests, while others do not.

Features

People with Down syndrome share a host of recognizable facial and physical features. These are most credible at birth and can become more pronounced with time. The obvious characteristics of Down's syndrome include:

A round face up with a flat profile and pocket-size nose and oral cavity
A large tongue that may protrude from the mouth
Almond-shaped eyes with skin that covers the inner eye (epicanthus folds)
White flecks in the colored office of the eyes (Brushfield spots)
Small ears
A modest caput that's somewhat flat in the back (brachycephaly)
Short neck
Clinodactyly: A unmarried crease beyond the palm of each hand (normally there are 2), short stubby fingers, and a pinky finger that curves inward
Small anxiety with a larger than normal infinite betwixt the big and 2d toes
Short, stocky build: At nascence, children with Down's syndrome unremarkably are average size, merely tend to grow at a slower rate and remain smaller than other kids their age. It's also common for people with Down's syndrome to be overweight.
Depression muscle tone: Infants with Down syndrome often appear "floppy" due to a status called hypotonia. Though hypotonia tin and oft does improve with age and physical therapy, nearly children with Down syndrome typically achieve developmental milestones—sitting up, crawling, and walking—afterward than other kids. Low muscle tone may contribute to feeding problems and motor delays. Toddlers and older kids may have delays in speech and in learning skills such as feeding, dressing, and toilet training.

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Intellect and Development

All people with Down's syndrome have some degree of intellectual disability or developmental delay, which means they tend to acquire slowly and may struggle with complex reasoning and judgment.

There's a mutual misconception that children with Down syndrome have predetermined limits in their ability to learn, but this is entirely fake. It's incommunicable to predict the degree to which a baby born with Down syndrome will be intellectually disadvantaged.

Co-ordinate to the international advancement system Down Syndrome Pedagogy (DSE), related challenges tin be bucketed as follows:

Slow development of motor skills:Delays in reaching milestones that allow a child to move well-nigh, walk, and use their hands and oral cavity tin can lower their opportunities to explore and acquire about the world, which in turn tin can affect cognitive development and impact the linguistic communication skills development.
Expressive language, grammar, and speech clarity:Considering of delays in developing linguistic communication comprehension, almost children with Down syndrome are boring to master right judgement structure and grammer, according to the DSE. They're besides probable to have problems with speaking clearly, even when they know exactly what they're trying to say. This can be frustrating and sometimes lead to behavior issues. It tin can even crusade a child's cognitive abilities to exist underestimated.
Number skills:Most children with Down syndrome notice it harder to master number skills than reading skills. In fact, the DSE says that the one-time are typically around two years behind the latter.
Verbal short-term memory:Short-term memory is the firsthand retentiveness system that hangs on to just-learned information for brusque periods of time. It supports all learning and cerebral activeness and has separate components for processing visual or verbal information. Kids who have Down syndrome aren't equally able to concord and procedure data that comes to them verbally as they are to call up what'due south presented to them visually. This can put them at a special disadvantage in classrooms where most new info is taught through spoken linguistic communication.

What is certain is that people with Down syndrome have the potential to acquire throughout their lifetimes and that their potential can be maximized through early intervention, good education, loftier expectations, and encouragement from family, caregivers, and teachers. Children with Down's syndrome tin and practice learn, and are capable of developing skills throughout their lives. They simply reach goals at a different pace.

Psychological Characteristics

People with Down syndrome often are regarded as particularly happy, sociable, and approachable. While in general, this may be true, it'south important to non stereotype them, even when information technology comes to labeling them with such positive characteristics.

People who have Down syndrome feel a full range of emotions and have their ain characteristics, strengths, weaknesses, and styles—merely like anyone else.

There are some behaviors associated with Down syndrome that are largely due to the unique challenges the condition presents. For example, nearly people with Down's syndrome tend to demand club and routine when dealing with the complexities of daily life. They thrive on routine and will often insist on sameness. This tin can be interpreted as innate stubbornness, but that'due south rarely what's going on.

Another beliefs often seen in people with Down syndrome is self-talk—something anybody does sometimes. It's thought that people with Down's syndrome frequently use self-talk as a fashion of processing information and thinking things through.

Complications

As yous tin can see, information technology's hard to separate out some of the signs of Down's syndrome from its potential complications. Keep in mind, though, that while many of the higher up issues pose undeniable business organisation, others but chart a course for an individual that is out of "the norm." Individuals with Down syndrome and their families embrace all of this in their own ways.

That said, people with Downwardly syndrome are more likely than otherwise healthy people to take sure physical and mental wellness issues. Care throughout ane's life can be complicated by these boosted concerns.

Hearing Loss and Ear Infections

Co-ordinate to the Centers for Disease Command and Prevention, upward to 75 percent of children with Down syndrome will have some form of hearing loss. In many cases, this may be because of abnormalities in the bones of the inner ear.

It's important to detect hearing problems as early on as possible, since existence unable to hear well can exist a factor in spoken language and language delays.

Children with Down syndrome are also at an increased risk of ear infections. Chronic ear infections can contribute to hearing loss.

Bug with Vision or Eye Health

Every bit many as 60 percent of children with Down syndrome volition have some type of vision problem, such equally nearsightedness, farsightedness, crossed eyes, cataracts, or blocked tear ducts, co-ordinate to the CDC. Half volition need to wear glasses.

Infections

The National Institutes of Health (NIH) states, "Down syndrome often causes problems in the allowed system that tin can make information technology difficult for the body to fight off infections." Infants with the disorder have a 62 percent college rate of pneumonia in the first yr of life than do other new babies, for example.

Obstructive Sleep Apnea

The National Down's syndrome Order (NSDD) reports that at that place is a 50 to 100% take chances that a person with Down syndrome volition develop this slumber disorder, in which breathing stops temporarily during sleep. The status is particularly common in Down syndrome considering of physical anomalies such as low musculus tone in the mouth and upper airway, narrow air passages, enlarged tonsils and adenoids, and a relatively large tongue. Often, the start attempt at treating sleep apnea in a child with Down syndrome is the removal of the adenoids and/or the tonsils.

Musculoskeletal Problems

The American Academy of Orthopaedic Surgeons lists a number of issues affecting the muscles, basic, and joints of people with Down syndrome. One of the almost common is an upper neck aberration chosen atlantoaxial instability (AAI), in which vertebrae in the neck become misaligned. It doesn't e'er cause symptoms, but when it does it tin can atomic number 82 to neurological symptoms such every bit clumsiness, difficulty walking or an aberrant gait (due east.g. limping), nerve pain in the cervix, and muscle tightness or contractions.

Down's syndrome too is associated with joint instability, leading to hips and knees that may easily go dislocated.

Centre Defects

Nigh half of all babies with Downwardly syndrome are born with heart defects, reports the CDC. These can range from balmy problems that are likely to right themselves over time to serious defects that will require medication or surgeries.

The nigh mutual center defect seen in infants with Down syndrome is an atrioventricular septal defect (AVSD)—holes in the eye that interfere with the normal flow of claret. An AVSD may need to be surgically treated.

Children with Down syndrome who aren't born with center problems will not develop them subsequently in life.

Gastrointestinal Issues

People with Down syndrome tend to be at an increased risk for a variety of GI bug. One of these, a condition called duodenal atresia, is a deformity of the small-scale tube-similar construction (the duodenum) that allows digested material from the stomach to pass into the small bowel. In a newborn, this condition causes a bloated upper belly, excessive airsickness, and lack of urination and bowel movements (after the starting time few meconium stools). Duodenal atresia can be successfully treated with surgery soon afterward birth.

Another gastrointestinal condition of note in Down's syndrome isHirschsprung disease—an absence of fretfulness in the colon, which can cause constipation.

Celiac disease, in which intestinal problems develop when someone eats gluten, a protein constitute in wheat, barley, and rye, is more common in people with Down syndrome too.

Hypothyroidism

In this condition, the thyroid gland makes trivial or no thyroid hormone, which regulates bodily functions such as temperature and free energy. Hypothyroidism tin can be present at nascence or develop subsequently in life, and then regular testing for the condition should be washed kickoff when a baby with Down syndrome is born. Hypothyroidism can be managed by taking thyroid hormone by mouth.

Blood Disorders

These include anemia, in which scarlet blood cells don't have enough atomic number 26 to bear oxygen to the torso, and polycythemia (higher-than-normal levels of red claret cells). Childhood leukemia, a type of cancer that affects the white blood cells, occurs in about ii to 3% of children with Down's syndrome.

Epilepsy

Co-ordinate to the NIH, this seizure disorder is nearly likely to occur during the showtime two years of the life of a person with Down syndrome or to develop after the third decade.

About one-half of the people with Down syndrome develop epilepsy later on age fifty.

Mental Health Disorders

It'southward likewise vital to sympathise that, despite what may appear to be innately unshakeable cheeriness, higher rates of anxiety disorders, low, and obsessive-compulsive disorder have all been reported in Down's syndrome. These psychological problems can be successfully treated with behavior modification, counseling, and sometimes medication.

Frequently Asked Questions

Why do people with Down syndrome look the same?

They have an actress chromosome or part of an extra chromosome. Researchers believe that this actress genetic fabric affects growth of the maxilla (part of the skull) and the bone, cartilage, and connective tissue in the caput, known as the cranial neural crest. Information technology creates common Down syndrome features such equally upturned, almond-shaped eyes and a smaller caput.
Why do people with Downwards syndrome stick out their natural language?

The tongue is unusually big in many people with Down's syndrome. In this condition, chosen macroglossia, the tongue is too big for the mouth so it protrudes out. Since babies born with Down syndrome besides have dumb muscle control (and the natural language is a muscle), the condition may be especially noticeable and problematic.
Why are people with Downward syndrome and so happy?

People who have Down syndrome experience a full range of emotions and aren't always happy. Overall, the vast majority of people who have Down's syndrome written report being happy with life and liking who they are.

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Source: https://www.verywellhealth.com/symptoms-of-down-syndrome-1120463