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Down syndrome is a serious and common disease that occurs in children from birth and can last up to sixty years. Down syndrome was not one of the examples on the list for this assignment yet it was important enough to me to mention it and research it. Down syndrome is not just a random disease that I heard of through years of health classes, it is a problem that affects me semi-directly. My dad’s cousin’s son, or my second cousin, suffers from an extreme case of down syndrome.

Most children who have down syndrome are very loving and their brain is as mature as it can be with this handicap. My little cousin has an extremely rare case of down syndrome where the extra chromosome is delaying communication between his brain and his body controls, specifically five senses. He is five years old but still needs twenty-four-hour watch and care. Like most children with down syndrome, his tongue is misguided and uncontrolled since that brain function has been delayed by many milestones. Most children have a prolongated tongue that sticks out all the time but in my little cousin’s mind, he sees this as the ability to lick anything, including public streets. After he is brought away from the street he would throw a tantrum because he doesn’t have the capability to think why it was wrong. My little cousin is still a very loving person like most kids who deal with down syndrome, except he has to deal with the effects times one hundred.

Throughout this experience, I have learned a lot about down syndrome that I didn’t know before. It started out as two words that I was familiar with and had heard before since it was extremely popular; then it turned to be well acquainted with since someone in my family is directly involved in it. Now it feels like I could have studied this as my research project in college. I knew a lot about the disease before I researched it but some key points I learned were: the extra chromosome is called the trisomy 21, that it originated in the 1800’s, and that there are two main different types of the condition (further detail in padlet). Learning more about Down syndrome is really important in general whether it affects you directly or not, but for me, it was important personally.

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There is no single, standard treatment for Down syndrome. Treatments are based on each individual's physical and intellectual needs as well as his or her personal strengths and limitations. People with Down syndrome can receive proper care while living at home and in the community. A child with Down syndrome likely will receive care from a team of health professionals, including, but not limited to, physicians, special educators, speech therapists, occupational therapists, physical therapists, and social workers. All professionals who interact with children with Down syndrome should provide stimulation and encouragement. Studies suggest Early Intervention and Educational Therapy, Drugs and Supplements, and Assertive Devices.

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Symptoms and Treatment of Down Syndrome will i have a down syndrome baby 21 down syndrome down syndrome trisomy down syndrome symbol down syndrome eyes prenatal testing for down syndrome down syndrome toddler down syndrome ultrasound ultrasound down syndrome down syndrome screening results down syndrome test results down syndrome in

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sensitivity in children with down syndrome

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sensitivity in children with down syndrome

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Hearing loss, visual defects and motor delay may be having a significantly delaying effect on the progress of many of the children from infancy. The ability of babies with Down syndrome to learn to talk may be adversely effected in the first year of life by their tendency to have less well-developed conversational skills and to be less efficient at setting up language learning situations with adults. This means they experience less opportunities for beginning to understand a vocabulary. While toddlers with Down syndrome learn word meanings in the just the same way as other children, they are learning new words and expanding their total vocabulary at a slower rate than ordinary children. They are not increasing their vocabulary as fast as they should in relation to their own mental-age progress. There may be some differences in the way that mothers interact with and talk to their children with Down syndrome, prompted by differences in their babies' skills and speech, which could be adversely affecting their progress.

Intervention including the use of signing reduces the differences in lexical acquisition between children with Down syndrome and ordinary children and brings most children with Down syndrome within the normal range at this stage.

Most children with Down syndrome seem to have considerably more difficulty in learning the grammar and syntax of the language than with learning lexical items.

Most children with Down syndrome show specific productive delays, first in being able to say single words and then in being able to produce sequences of words. Their comprehension for vocabulary, grammar and syntax is is usually greater than their productive skill suggests. Adults need to continue to be sensitive to the child's efforts to communicate throughout childhood in order to encourage them to keep trying at a task which is likely to be difficult.

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Are you a visual kind of person? Me too.

Here is a simplified version of What is Down Syndrome in just one minute.

What is Down Syndrome?

Down Syndrome is the name given to a genetic abnormality in which a person has a triplicate of the 21st chromosome. Trisomy 21 is another name for Down Syndrome. Down Syndrome was first identified by the English Physician, John Langdon Down in 1866.

Down Syndrome occurs when a person receives an extra chromosome at conception. This happens in approximately 1 in 700 pregnancies in the United States. Down Syndrome is also the most common genetic anomaly known.

How Does Down Syndrome Happen?

People usually receive 23 chromosome pairs from their mom and 23 chromosome pairs from their dad.

Sometimes there is an error in cell division and when the chromosomes are doing their thing, one parent shares a bit too much genetic material and there you go, baby, gets a little extra chromosomal piece or strand. Nothing can prevent this. Down Syndrome is not as a result of the parent's lifestyle, drug use, diet, or any other factors that the parents can control.

Trisomy 21, the most common form of Down Syndrome, is completely random. This anomaly can happen to anyone of any race, any age, any background, and in any geographic location.

Trisomy 21, Down Syndrome, can happen for first time moms, it can happen to young moms, and it has a higher statistical chance of happening to older moms.

There are 3 types of Down Syndrome:

Trisomy 21: All copies of the 21st chromosome are in triplicate (95% of cases)

Mosaic Down Syndrome: Only some of the person's 21st set of chromosomes are in triplicate and others are completely unaffected These cases have a tendency to exhibit fewer of the physical characteristics of Down Syndrome and often it can be difficult to tell, at first glance, that they have Down Syndrome. (1-2% of cases)

Translocation: Extra genetic material is attached to the 21st chromosome but it may not be a full and separate chromosomal piece, it is kind of like a small hitchiker. This type can be hereditary but is the only type that is.

Down Syndrome is NOT a spectrum disorder, you either have extra genetic material on the 21 st chromosome, or you do not.

The ABILITIES of those with Down Syndrome ARE on a wide spectrum and can be greatly improved with Early Intervention.

Children born with soft markers (physical characteristics) for Down Syndrome will have a blood test to confirm the extra genetic material.

My Baby has Down Syndrome, now what?

Congratulations, first of all, you are having a baby and that my friend, is awesome. Down Syndrome is not scary, there are so many opportunities right now and perceptions are changing. The world is becoming a better place for families and individuals with Down Syndrome.

A few things that you should know. Babies born with Down Syndrome will have a number of screens performed at birth, or shortly thereafter. The life expectancy of someone born with Down Syndrome now is much the same as anyone else born. Often individuals with Trisomy 21, Down Syndrome, will live well past 60 years ....or more. Much is based on lifestyle choices and self care, like any of us.

Children who have Down Syndrome are more likely to have heart issues (40-60%). Some of these heart issues can lead to a need for surgery, the good news is, so many children born today thrive after their heart defects are medically repaired.

Children born with Down Syndrome should be screened for Heart Defects, Hearing difficulties, Vision problems, and sometimes other tests as deemed necessary by a Pediatrician.

When a child has Down Syndrome they are also at increased risk of infection due to a lowered immune system, this does not mean that you need to keep children with Down Syndrome in a bubble, but they do need to be monitored closely when they contract a virus or respiratory infection.

Having a child with Down Syndrome is a joy and children with Down Syndrome can learn to do all the things that typical children do.

Children with Down syndrome can learn to walk, talk, sign, read, write, and perform basic math skills. Some children with Down Syndrome will have the ability to go to college and live independently.

What about the heart?

Down Syndrome is an anomaly that carries with it the increased risk of heart defects. The heart defects commonly associated with Down Syndrome are:

ASD- Atrial Septal Defect

"In this defect there is a hole between the top chambers (receiving chambers or atria). Because of the higher pressure in the left side of the heart, oxygenated blood flows through the hole from the left to the right side of the heart, and back to the lungs, in addition to the normal flow.

There are three types of Atrial Septal Defect; the most common is when there is a hole in the middle of the central heart wall. Holes in the lower part of the septum, called the primum defect (partial atrioventricular septal defect), are often associated with a problem of the mitral valve that often results in a leak. Less common are sinus venosus defects or holes in the top of the septum. These are associated with an abnormality of the right upper lung vein." -Congenital Heart Disease in Children with Down Syndrome. (n.d.). Retrieved May 13, 2017, from http://downsyndrome.nacd.org/heart_disease.php

VSD- Ventricular Septal Defect

"In this defect there is a hole between the bottom chambers (pumping chambers or ventricles). Because of the higher pressure in the left side of the heart, this allows oxygenated blood to flow through the hole from the left to the right side of the heart, and back to the lungs, in addition to the normal flow." Congenital Heart Disease in Children with Down Syndrome. (n.d.). Retrieved May 13, 2017, from http://downsyndrome.nacd.org/heart_disease.php

PDA- Patent Ductus Artetiosis

"This defect is the continuance of a direct connection between the aorta and the lung (pulmonary) artery, which normally closes shortly after birth." Congenital Heart Disease in Children with Down Syndrome. (n.d.). Retrieved May 13, 2017, from http://downsyndrome.nacd.org/heart_disease.php

Tetralogy of Fallot
"This anomaly includes four different heart problems:

a hole between the top chambers and a hole between the bottom chambers

combined mitral and tricuspid valves (common atrioventricular valve)

narrowed pulmonary artery (from heart to lungs) or the area under or above the valve, or all three

thickening of the right bottom chamber (ventricle)" Congenital Heart Disease in Children with Down Syndrome. (n.d.). Retrieved May 13, 2017, from http://downsyndrome.nacd.org/heart_disease.php

Are there other health issues?

Children born with Down Syndrome do have a higher incidence of risk for other health issues that may not be as common in the general public. It does not mean that each child born with Down Syndrome will experience all, or even any of these health problems, but there is a higher incidence in the Down Syndrome population so they are monitored more closely. There is something about that extra genetic material that makes these children susceptible to health problems. A few of these can be:

Hypothyroidism - a condition in which the thyroid is doing its job and producing enough of the thyroid hormone. This can result in complications with weight gain, constipation, feeding issues and can manifest itself in other ways as well. This is a treatable condition and is often tested for in infants with confirmed Trisomy 21.

Leukemia- Children born with Down Syndrome have a 10-15% higher risk of developing the blood disorder, leukemia (white blood cell cancer).

Cervical Malformation - In approximately 10-20% of children with Down Syndrome there can be a slight malformation in the upper part of the spine which may not cause any issues unless surgery is needed or contact sports are engaged in. It is something that children should be checked for.

Hypotonia - This is the hallmark of Down Syndrome. One of the first signs that a practitioner looks for at birth is hypotonia, a fancy word for poor muscle tone. At birth often children with Down Syndrome have a "floppy" tone and will exhibit a lack of definition. This means that the babies are fantastic snugglers but also contributes to the delays in gross and fine motor skills that are associated with Down Syndrome.

It is important for parents to find a pediatrician who is very familiar with Down Syndrome, or find a children's hospital which has a Down Syndrome clinic so that the child with this condition can receive the most astute care possible. Some children with Down Syndrome have many health complications, other children have very few.

What Else Do I Need to Know?

There are many supports and sources of information from the national level to the state level, here are just a few:

NDSS - National Down Syndrome Society

DSDN - Down Syndrome Diagnosis Network
Global Down Syndrome Foundation
NADS - National Association for Down Syndrome

You also will likely find a local chapter of organized families by doing a google search using your county, state, and "Down Syndrome group"

Want to hear from other mamas? Download this free ebook of letters written to you from other mamas on this path when you sign up below for the email list.

"Hypothyroidism in Infants, Children, and Teens - Topic Overview." WebMD. WebMD, n.d. Web. 17 May 2017.

"What Conditions or Disorders Are Commonly Associated with Down Syndrome?"National Institutes of Health. U.S. Department of Health and Human Services, n.d. Web. 17 May 2017.

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Down Syndrome 101- Everything you need to Know

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Down Syndrome is the name given to a genetic abnormality in which a person has a triplicate of the 21st chromosome. Trisomy 21 is another name for Down Syndrome. Down Syndrome was first identified by the English Physician, John Langdon Down in 1866. Down Syndrome occurs when a person receives an extra chromosome at conception.

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the children generally seem keen to communicate and to interact, perhaps showing continuation of their interest in people in the first year of life. The social skills and behavior of the majority of children with Down syndrome are good for their developmental age, as is their understanding of other people and what they are thinking and feeling. Parents often comment on the empathy and social sensitivity of teenagers with Down syndrome.  However as they get older, the experience of often not being understood when talking may deter the young people in social situations. Bray & Woolongong (1988) reported that the teenagers were much less likely to initiate conversations or to attempt to repair them than their conversational partners. Sometimes teenagers do not have the skills, language or confidence to enable them to introduce themselves to strangers or engage in general everyday social conversations.  Many teenagers and young adults experience social isolation, in the sense of not having close friends to chat to and share worries with. This is in part the result of the lack of adequate vocabulary and language skill to make friends and talk about their experiences. This can lead to the creation of fantasy friends and the need to engage in fantasy play to deal with worries even into adult life. Buckley & Sacks (1987) found half the teenagers in their study either had fantasy friends, engaged in fantasy play or talked aloud to themselves when alone.

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Memory in Children with Down Syndrome - Social Ecology Research Spotlight

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Angela Lukowski, associate professor of psychology and social behavior in the UCI School of Social Ecology, studies memory development in infants and children with Down syndrome. She wants to understand how early memory abilities impact the extent to which children benefit from intervention efforts, with the ultimate goal of identifying the complex conditions under which children with Down syndrome best remember and apply learned information.

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importance of language and communication

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importance of language and communication

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This difficulty with learning to talk adequately has several potentially serious consequences for the children's development from the end of the first year of life. Learning to talk enables a child to communicate in more effective and complex ways, to gain ever-increasing amounts of information about the world and to use language for mental processes such as thinking and remembering.  Using speech, we are able to have control over our lives. We can ask for what we want or need, tell people how we feel, ask for information, share our pleasures and our worries, make friends and enjoy our social lives. If we have only limited ability to talk we will be more isolated from others and our social and emotional lives impoverished.  Babies have experience of communicating in the first months of life and they soon learn that they can control their parent's behavior, for example, by smiling and crying. They begin to understand people, their behavior, and moods and to know when someone is happy, sad or angry from the clues provided by the tone of voice, facial expression, and behavior. This is the first step on the pathway of social and emotional development.  Research has shown that babies with Down syndrome, while a little later to smile and enter into these conversations, are as interested as ordinary babies in these social games and spend the same amount of time engaging adults in this kind of activity in the middle of the first year of life. However, the studies have shown that when ordinary babies begin to spend proportionately more time exploring their visual world the babies with Down syndrome do not do this to the same extent. They are still more interested in people. Nor do they move on to use eye-contact to engage the adult in their activities at the end of the first year of development, in a way which has been described as referential eye-contact.

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Inservice video for SLHS 555 at the University of Arizona, by Ciera Yates.

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This video explains what the most importance cognitive skills and landmarks for children who aren't affected with down syndrome. Cognitive developmental skills in children involves the progressive building of learning skills, such as attention, memory and thinking. These crucial skills enable children to process sensory information and eventually learn to evaluate, analyze, remember, make comparisons and understand cause and effect. Although some cognitive skill development is related to a child's genetic makeup, most cognitive skills are learned. That means thinking and learning skills can be improved with practice and the right training. Psychologists have also drawn attention to the way in which language and speech are used for cognitive functions. Once we have begun to master a language, we think in terms of words, we reason, recall and do mental arithmetic in words either silently or aloud. For example, according to our current understanding of short-term memory functioning, (which is essential for most mental processes), it is based on silent speech and develops as children's speech facility increases. Storage and recall from long term memory is also dependent on organizing the information on the basis of meanings conveyed by language i.e. grouping items into similar classes such as fruit or clothes. Currently there is considerable interest in the inter-relationships between the development of speech, language and memory abilities.  Children with Down syndrome are expected to show cognitive delay, to be slower in developing their awareness and understanding of the world and to think reason and remember. This cognitive delay may be in part the consequence of the language learning difficulties. Any serious language delay will inevitably result in increasing cognitive delay as language is such a powerful tool for gaining knowledge and for understanding, thinking, reasoning and remembering. Conversely the more we can do to overcome the children's language learning and speech difficulties then the better equipped they will be to learn and improve their cognitive abilities.

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What Are Cognitive Skills in Children? - Development, Definition & Training - Video & Lesson Transcript | Study.com

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Children learning how to process sensory information in a progressive manner is called Cognitive skill development. Examine the definition and...

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The importance of language and communication is vital for the human brain and cognitive skills.  This difficulty with learning to talk adequately has several potentially serious consequences for the children's development from the end of the first year of life. Learning to talk enables a child to communicate in more effective and complex ways, to gain ever increasing amounts of information about the world and to use language for mental processes such as thinking and remembering. Language for children with down syndrome is normally delayed: Descriptive accounts of the development of children with Down syndrome almost always draw attention to the delays to be expected in their speech and language development . Despite a wide range of individual differences, most children are late in saying their first words, their vocabulary grows more slowly than in ordinary children and although they use the same range of two- word phrases as all children, they have difficulty in mastering the many rules for talking in grammatically correct sentences.

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Speech and Language Development and Down Syndrome

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I made this for a group presentation for one of my classes. Every time words are written in red on the screen, they were an answer to a question on a sheet that we gave the class to fill in during the presentation. Most of this presentation came from a pdf and an article I found online.

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Down syndrome is usually caused by an error in cell division called “distinction.” 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 is replicated in every cell of the body. This type of Down syndrome, which accounts for 95% of cases, is called trisomy 21.Mosaic-ism (or mosaic Down syndrome) is diagnosed when there is 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 and accounts for only about 1% of all cases of Down syndrome. Research has indicated 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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Two types of procedures are available to pregnant women: screening tests and diagnostic tests. The screening tests estimate the risk of the baby having Down syndrome. Diagnostic tests tell whether or not the baby actually has Down syndrome.
Screenings tests:

Maternal serum tests, such as the triple screen or quad screen, measure quantities of various substances in the blood. These tests are usually done between 15 and 20 weeks gestation.

Newer non-invasive tests have been developed which look for genetic material from the baby in the mother’s blood.  They can be done earlier in the pregnancy and are more accurate than other screening tests, but they are currently recommended only for “high risk” pregnancies.

Sonograms (ultrasounds) are usually performed in conjunction with other screenings. These can show some physical traits that are helpful in calculating the risk of Down syndrome.

Screening tests do not accurately confirm the diagnosis of Down syndrome. In fact, false positives and false negatives frequently occur.

Diagnostic tests:
Three diagnostic tests are currently available:

Chronic Villus Sampling (CVS) is conducted between 10 and 12 weeks.  In this test, a small piece of the placenta (chronic villus) will be taken and analyzed.

Amniocentesis is performed between 14 and 20 weeks.  A small sample of amniotic fluid is drawn, and cells in the fluid are tested.

Per-cutaneous Umbilical Blood Sampling (PUBS) is performed after 18 weeks.  This test examines blood from the umbilical cord.

(to watch the video, must click listen)

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Blood Test Provides More Accurate Prenatal Testing For Down Syndrome

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A pregnant woman's blood contains enough fetal DNA for doctors to check whether the baby would be born with Down syndrome. A new blood test is safe and accurate, but it raises ethical concerns.

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Many children with Down syndrome have health complications beyond the usual childhood illnesses. Approximately 40% of the children have congenital heart defects. It is very important that an echo cardiogram be performed on all newborns with Down syndrome in order to identify any serious cardiac problems that might be present. Some of the heart conditions require surgery while others only require careful monitoring. Children with Down syndrome have a higher incidence of infection, respiratory, vision and hearing problems as well as thyroid and other medical conditions. However, with appropriate medical care most children and adults with Down syndrome can lead healthy lives. The average life expectancy of individuals with Down syndrome is 60 years, with many living into their sixties and seventies.

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Adult Down Syndrome Center: 25 Years of Holistic Care

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The Adult Down Syndrome Center has provided care to a group of individuals that, 25 years ago, was underserved-and in some cases, not served at all. Over the years, research has expanded, lives have been saved and friends have been made.

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It is important to remember that while children and adults with Down syndrome experience developmental delays, they also have many talents and gifts and should be given the opportunity and encouragement to develop them. Most children with Down syndrome have mild to moderate impairments but it is important to note that they are more like other children than they are different. Early Intervention services should be provided shortly after birth. These services should include physical, speech and developmental therapies. Most children attend their neighborhood schools, some in regular classes and others in special education classes. Some children have more significant needs and require a more specialized program. Some high school graduates with Down syndrome participate in post-secondary education. Many adults with Down syndrome are capable of working in the community, but some require a more structured environment.

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Development Milestones in Children with Down Syndrome

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The text of this brief can be found at http://ahs.uic.edu/dhd/facultyresearch/publications/#accessible -Video Upload powered by https://www.TunesToTube.com

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In 1866, Doctor John Langdon Down first described down syndrome as a disorder, but he misunderstood how down syndrome arises. The cause of down syndrome was discovered rather recently in 1959. Down syndrome is a genetic disorder and the most common cause of cognitive impairment. Down syndrome was named after him and saw him as the person who discovered down syndrome and was the first one (known) susceptible of it.

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In this video, the narrator explains how abnormal births can occur using ultra sound. Down syndrome is usually caused by an error in cell division called distinction. It is not known why this occurs. However, it is known that the error occurs at conception and is not related to anything the mother did during pregnancy. It has been known for some time that the incidence of Down syndrome increases with advancing maternal age. However, 80% of children with Down syndrome are born to women under 35 years of age.

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Ultrasound of Normal and Abnormal early pregnancy

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There are three types of chromosomes and down syndromes that a child could have.

1. Trisomy 21 is caused by a faulty cell division that results in the baby having three #21 chromosomes instead of two.  Prior to or at conception, a pair of #21 chromosomes in either the egg or the sperm fails to separate properly.  The extra chromosome is replicated in every cell of the body.  Ninety-five percent of all people with Down syndrome have Trisomy 21.

2. Translocation accounts for only 3% to 4% of all cases.  In translocation a part of chromosome #21 breaks off during cell division and attaches to another chromosome.  The presence of an extra piece of the 21st chromosome causes the characteristics of Down syndrome.  Unlike Trisomy 21, which is the result of random error in the early cell division, translocation may indicate that one of the parents is carrying chromosomal material that is arranged in an unusual manner. Genetic counseling can be sought to ascertain more information when these circumstances occur.

3. Mosaic ism occurs when distinction of chromosome #21 takes place in one of the initial cell divisions after fertilization.  When this happens, there is a mixture of two types of cells, some containing 46 chromosomes and some 47.  The cells with 47 chromosomes contain an extra 21st chromosome.  Because of the “mosaic” pattern of the cells, the term mosaic ism is used.  This type of Down syndrome occurs in only one to two percent of all cases of Down syndrome

Regardless of the type of Down syndrome a person may have, a critical portion of the 21st chromosome is present in some or all of their cells.  This additional genetic material alters the course of development and causes the characteristics associated with the syndrome.

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Down syndrome is usually identified at birth or shortly thereafter. Initially the diagnosis is based on physical characteristics that are commonly seen in babies with Down syndrome. These include low muscle tone, a single crease across the palm of the hand, a slightly flattened facial profile and an upward slant to the eyes. The diagnosis must be confirmed by a chromosome study (prokaryotic). A prokaryotic provides a visual display of the chromosomes grouped by their size, number and shape. Chromosomes may be studied by examining blood or tissue cells. Multiple tests can be used to discover down syndrome. The mother can take a diagnostics and screening test while she's pregnant with the baby. If the doctors catch it before the child is born, then it can be removed or prevented.

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Down syndrome is a genetic condition that causes delays in physical and intellectual development. It occurs in 1 and every 792 live births. Individuals with Down syndrome have 47 chromosomes instead of the usual 46. It is the most frequently occurring chromosomal disorder. Down syndrome is not related to race, nationality, religion or socioeconomic status. The most important fact to know about individuals with Down syndrome is that they are more like others than they are different. People with down syndrome are normally born with it and can last up to 60 years. Down syndrome is much more common when you're a child than adult because as the body matures, the extra chromosome is no longer needed.