Down Syndrome Project by Jelena Sypher https://padlet.com/18sypherj/8gk9jb9ffb5w Child development 1 period 2 en-us 2017-11-10 16:07:57 UTC 2017-11-21 13:23:13 UTC hello@padlet.com Down Syndrome with children 18sypherj https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208691023
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.]]> 2017-11-20 13:25:55 UTC https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208691023 Diagnosis 18sypherj https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208696012
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.
]]> 2017-11-20 13:37:03 UTC https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208696012 Trisomy 21 18sypherj https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208699169 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.
]]> 2017-11-20 13:42:59 UTC https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208699169 Causes and discoveries 18sypherj https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208701679 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. ]]> 2017-11-20 13:48:03 UTC https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208701679 Origin 18sypherj https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208703539
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.
]]> 2017-11-20 13:52:13 UTC https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208703539 Developmental stages and delays 18sypherj https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208706405 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. ]]> 2017-11-20 13:58:17 UTC https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208706405 health demands and issues 18sypherj https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208709091 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.]]> 2017-11-20 14:04:03 UTC https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208709091 Prenatal diagnosis 18sypherj https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208750816 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)
]]> 2017-11-20 15:23:23 UTC https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208750816 Down Syndrome brain diagram 18sypherj https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208753616
]]> 2017-11-20 15:27:45 UTC https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208753616 types of down syndrome: 18sypherj https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208754623
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.
]]> 2017-11-20 15:29:34 UTC https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208754623 delays with down syndrome 18sypherj https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208758088 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.]]> 2017-11-20 15:35:32 UTC https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208758088 cognitive and language skills. 18sypherj https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208763630 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.]]> 2017-11-20 15:45:44 UTC https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208763630 importance of language and communication 18sypherj https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208958742 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.]]> 2017-11-21 04:31:46 UTC https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208958742 social and emotional sensitivity 18sypherj https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208959307 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.]]> 2017-11-21 04:37:56 UTC https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208959307 sensitivity in children with down syndrome 18sypherj https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208959564  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. 
]]> 2017-11-21 04:40:40 UTC https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/208959564 Treatments 18sypherj https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/209069844 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.]]> 2017-11-21 13:13:23 UTC https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/209069844 Reflection 18sypherj https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/209070925 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.
]]> 2017-11-21 13:16:44 UTC https://padlet.com/18sypherj/8gk9jb9ffb5w/wish/209070925