Down Syndrome is a chromosomal condition related to chromosome 21. It affects 1 in 800 to 1 in 1000 born infants. People who have Down Syndrome have learning difficulties, mental retardation, a different facial appearance, and poor muscle tone (hypotonia) in infancy.
Individuals with Down Syndrome also have an increased risk for having heart defects, digestive problems such as “gastroesophageal reflux or celiac disease”, and hearing loss. Some people who have Down Syndrome have “low activity of the thyroid gland (hypothyroidism)” - an organ in the lower neck that produces hormones.
Down Syndrome can be diagnosed in infancy based on the characteristic medical findings. When Down Syndrome is assumed in a person, a genetic test called a
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When there is a heart defect currently in an infant with Down syndrome, the infant is referred to a “pediatric cardiologist” for medical attention or to a “pediatric cardiac surgeon for early surgical repair.” Some infants with Down Syndrome have difficulties with swallowing or they may have blockages in their bowels. Surgery can be performed to correct these problems. After they are corrected, they usually cause no further health issues. Children with Down syndrome may have “frequent colds and sinus and ear infections.” These are treated early and aggressively to prevent hearing loss and chronic infections. Low thyroid levels are more common in infants who have Down syndrome. It is recommended that “thyroid level testing” be performed at least yearly. Some infants with Down syndrome have eye problems such as cataracts (cloudy lenses) or crossed eyes (strabismus). Surgery can help with these problems. Sucking problems related to low muscle tone or heart problems may make breast feeding difficult to begin with. “Occupational therapists, speech therapists, breast feeding consultants and support groups usually have exact sources for the mothers of infants with Down syndrome.” Intelligence in individuals with Down syndrome ranges from low normal to very slow to learn. At birth it is not possible to tell the level of intelligence a baby with Down syndrome will have. All areas of development including “motor
Down Syndrome, also known as trisomy 21, is a genetic disorder in which a baby is born with an extra chromosome. A baby is usually identified at birth through observation of a set of common physical characteristics. They include having slanted eyes, a pushed in face, and “Brushfield spots” [white/gray spots that appear in the iris of people with down syndrome]. In the 1930’s down syndrome was not treated very well, however many changes in the medical field has led to a better treatment of those who have this illness.
Though not all children with Down syndrome have the same features, some of the more common features are small head , short neck , flattened facial features, protruding tongue, unusually small ears, poor muscle tone, relatively short fingers and small hands and feet and short height just to name a few.
Jane O'Brien: (In a comforting voice) First, calm down, Miss Anderson. I know it’s hard for you to hear your baby has Down syndrome but please take a deep breath, I will explain everything you need to know. First of all, Down Syndrome is a genetic disorder that involves birth defects, intellectual disabilities, and characteristic facial features. Additionally, it often involves heart defects, visual and hearing impairments, and other health problems. if you thinking what is genetic disorder is. Genetic disorder is altered or faulty gene or set of genes. The four broad groups of genetic disorders are single gene disorders, chromosome abnormalities, mitochondrial
. Down syndrome is not a disease that someone catches and is not caused by difficulties during the pregnancy, it is a genetic condition. This condition is caused by the presence of an extra chromosome in the body’s cells and causes a redundant amount of proteins to be formed. All cells of the body derive from a single cell formed by the fusion of a father’s sperm and a mother’s egg. Each cell carries a nucleus full of genetic material known as genes. These genes are inherited from both the mother and father. Each cell normally contains 46 pairs of chromosomes. 23 chromosomes come from one parent and 23 from the other, hence the 46 pairs. When it comes to children with down syndrome, one of the chromosomes does not separate properly and so the
Down syndrome occurs in people who were born with three, rather than two, copies of the 21st chromosome. This extra genetic material is what brings about the effects of Down’s syndrome. It is often characterized by an impairment of cognitive (process of thought) ability. Most people with Down syndrome have lower than average, mild to moderate, cognitive ability and this cannot be predicted at birth. A smaller number fall into the severe impairment range. Physically, people with Down’s syndrome are smaller in stature, have less muscle tone, and have noticeably different facial features. The number of these births occurs approximately in one out of every one thousand (ndss.org). As of 2007, the number of people in the United States with Down syndrome stood at about 350,000. These numbers will shrink because now (most) potential parents can know the condition of the fetus early. This information is included to let the reader relate to the struggles that some with Down syndrome goes through.
Down Syndrome is the most common genetic form of mental retardation and occurs in about 1 out of every 800 births. It has distinctive characteristics that allow it to be easily distinguished from other forms of mental retardation (3). Factors such as maternal age, hormonal abnormalities, x-rays, viral infection, immunologic problems, and genetic predisposition can cause the improper
If the case of Down syndrome being accompanied by a health complication which is a common happening since the CDC stated that “About 50% of all babies born with Down syndrome are also born with a congenital heart defect.” (Center for Disease Control and Prevention) other medical procedures such as surgery and medication are needed. Additionally they also mentioned, that babies with Down syndrome have a far larger risk of experiencing different disabilities and added risks, thus it is important to maintain the health of a person experiencing Down
Conclusion I. Thesis Restatement: Down syndrome is the most common genetic disorder in the United States and it accounts for much of the learning disabilities found in children today. Every person with down syndrome can display different characteristics, including physical, intellectual, and emotional characteristics. There is no cure for down syndrome but its symptoms are treatable and much can be done to improve the lives of those with the disorder. II. Review: There are three forms of Down syndrome, with three different variations of having an extra chromosome 21. Although there are three different types, they all portray the same characteristics and all individuals with the disorder should receive individualized care based on their disorder.
After trying for many years, a woman was successful in becoming pregnant. As a component of one of her routine pre-natal appointments, she was tested for fetal abnormalities. A blood test confirmed that her baby has Down syndrome and her physician recommended aborting the fetus. Down syndrome is a chromosomal abnormality that leads to intellectual disability, weak muscle tone and a unique facial characteristic. Down syndrome children often have increased risks for heart defects and other medical conditions such as gastric reflux. Taking care of a child with Down syndrome can be both mentally and physically exhausting. Taking care of a child with Down syndrome can be equally rewarding.
Babies are born with poor muscle tone causing weak muscles and making it harder for them to develop motor skills such as using their arms and legs. It is harder for them to grasp objects, crawl, and walk. Children with Down syndrome have difficulty with their cognitive (thinking) abilities, problem solving, memory retention, social, language, and motor skills. This is one reason why people with Down syndrome become frustrated very easily.
a child who doesn´t. When a child has down syndrome there are very noticeable symptoms like: flattened facial features, short neck, small head or poor muscle tone . Some other symptoms that could be present are: more flexibility than a healthy person would have, brushfield spots which are tiny dots on the iris of the eye or unusually shaped ears. Although babies with Down syndrome seem to be the same size as normal babies, they end up growing slower causing some of the unusual formalities. Also things like walking or sitting can happen at a later age than usual for kids with this genetic disorder (3). Not only are there physical symptoms that are easier for us to notice but there are also health problems that can occur with this disorder as well. Babies who have Down syndrome are likely to have health problems like: mild to moderate cognitive disabilities, heart defects, depression or behavior problems and many others
There are no standard medical problem or physical defect that is linked with all patients with Down Syndrome. The symptoms can differ from one child to another, which is why some child patients require a lot of medical help, whereas many others live healthily (Girod, 2001).
Babies with Down syndrome seem to be extremely quiet, less responsive, with weak muscles. Many physical signs of Down syndrome may be present including: flat face, small head, flat bridge of the nose, small mouth causing the tongue to stick out and to appear large, upward slanting eyes, extra folds of skin located at the inside corner of each eye, rounded cheeks, small ears, small wide hands, a malformed fifth finger, a wide space between the big and the second toes, and they appear to be shorter than normal
Down Syndrome is also known as Trisomy 21, is a disorder that occurs when an extra chromosome is present on the 21st chromosome. There
A person that has Down syndrome may have some physical problems or disabilities. Some common physical problems are: short necks, poor muscle tone, a small head and an overall smaller body. Approximately one third of babies born with Down syndrome have heart defects, most of which are now