Down Syndrome
Although many theories have been developed, it is not known what actually causes Down syndrome. Some professionals believe that hormonal abnormalities, X-rays, viral infections, immunologic problems, or genetic predisposition may be the cause of the improper cell division resulting in Down syndrome.
It has been known for some time that the risk of having a child with Down syndrome increases with advancing age of the mother; i.e., the older the mother, the greater the possibility that she may have a child with Down syndrome. However, most babies with Down syndrome (more than 85 percent) are born to mothers younger than 35 years. Some investigators reported that older fathers may also be at an increased risk of having a child
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Instead of the normal number of 46 chromosomes in eachcell, the individual with Down syndrome has 47 chromosomes. This condition is called trisomy 21.
The second type is called translocation since the extra 21 chromosome is attached or translocated onto another chromosome, usually on chromosome 14, 21 or 22. If translocation is found in a child with Down syndrome, it is important to examine the parents’ chromosomes, since in at least one-third of the cases, a parent may be a carrier of the translocation. This form of chromosome error is found in 3 - 4 percent of the individuals with Down syndrome.
Diagnosis
The child with Down syndrome is in need of the same kind of medical care as any other child. The pediatrician or family physician should provide general health maintenance, immunizations, attend to medical emergencies, and offer support and counseling to the family. There are, however, situations when children with Down syndrome need special attention.
Sixty to 80 percent of children with Down syndrome have hearing deficits. Therefore, audiologic assessments at an early age and follow-up hearing tests are indicated. If there is a significant hearing loss, the child should be seen by an ear, nose and throat specialist.
Forty to 45 percent of children with Down syndrome have congenital heart disease. Many of these children will have to undergo cardiac surgery and often will need long term care by a pediatric
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
away and attach itself to another chromosome. The last 1% is made up of those
There are three types of types of Down syndrome, with the most prevalent one being Trisomy 21 (www.ndss.org). The other two are Translocation
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.
Down syndrome doesn’t just show up during your life, you’re not going to just start noticing you have Down syndrome in the middle of your life or be diagnosed with it later on. You’re born with it; you have no way to get rid of it at any time. You can’t change it. Down syndrome is a chromosomal condition that is linked to intellectual disability. Each human should have 46 chromosomes, 23 from the father, and 23 from the mother. But whenever you have a child with Down syndrome they are born
Babies can be screened for Down syndrome as part of prenatal care; however, these screenings don’t tell you if the baby has Down syndrome, it can only tell you how likely the baby is to have it. This first test is called the first trimester combined test. This includes blood tests and an ultrasound on the baby. Based on these two tests and age a doctor can try to estimate the likelihood of a baby having Down syndrome. If results come back positive and people think their kids has a great chance of having this genetic disorder they can try to have a few more tests done. Once the baby is born they first see if the baby has an visual symptoms. Appearance is a big key to knowing if a baby has Down syndrome right away when it is born. However, at times babies can have appearances that resemble Down syndrome even if they don’t have it so a test is done called a chromosomal karyotype which analyzes the child’s chromosomes. Once diagnosed a child should start treatment as soon as possible if they want to see more positive effects of the treatments. Usually doctors can refer patients to special early intervention programs in the area. These programs specialize in helping the diagnosed kids with developing different skills like: social, language and motor skills. Most kids will end up having a team of experts on their side. This would be a
Down Syndrome (otherwise called Trisomy 21) is the most widely recognized hereditary issues that causes a long lasting scholarly disability, formative postponements and different issues. Down Syndrome influences individuals of any age, races, and financial levels. It is a standout amongst the most as often as possible happening chromosomal variations from the norm, happening once in each 800 to 1000 live births. More than 350, 000 individuals in the United States alone have Down Syndrome. My objective for this paper is to discuss the three unique sorts of Down Syndrome and to discuss the contrasts between them.
There’s over 13,000 people in Australia that have down syndrome in our modern day. The quality of life for people that have down syndrome can be drastically improved by meeting special health care needs. People with Down Syndrome can achieve their optimal quality of life through parental care and government support, medical guidance and community support systems like inclusive education at all levels. Genetic testing is a medical test that identifies changes in chromosomes and genes. In this article I will be telling you why genetic screening is very important if you are wanting to know if your child has down syndrome. Over this article I will also mention genetic counselling, genetic counselling is a communication process which helps families,
One of the most common genetic birth defects is Down syndrome which is a congenital disorder caused from a chromosome defect. It causes impairments and physical abnormalities. This is a condition where a child is born with an extra copy of their 21st chromosome. According to the National Down Syndrome Society (NDSS), 1 in 700 babies are born with DS. There is not an exact cause of how DS happens but there is an explanation as to what happens. When there is any case of reproduction, genes from both parents are passed to the children. Within these genes there are chromosomes and the child is supposed to receive 23 pairs of chromosomes or 46 total. Children with DS end up with 3 copies or an extra partial copy of chromosome 21 instead of 2
With today’s technological advances people should look up a web site, www.ndss.org, specifically for information on people with Down syndrome. In today’s societies a person with Down syndrome still fall into common misconception about who or why they were born Down syndrome. Common misconceptions for a person with Down syndrome consists of them being contagious, they have three of every chromosome, and the umbilical cord wraps around their neck while in the womb. Everyone should mark their calendars for March twenty-first, national world Down syndrome
Down Syndrome is not commonly genetically passed down as opposed to what some may think, it happens by random. About 1% of the cases are heredity and 5% come from the father. Although, the risk of having a child diagnosed with down syndrome increase dramatically past the age of 35. “A 35-year-old woman has about a one in 350 chance of conceiving a child with Down syndrome, and this chance increases gradually to 1 in 100 by age 40.” (ndss)
There are specific things to look for in people who have Down syndrome. According to WebMD, things to look for are, “Distinctive facial features, such as a flat face, small ears, slanting eyes, and a small mouth. A short neck and short arms and legs. Low muscle tone (hypotonia) and loose joints. Muscle tone usually improves by late childhood. Below-average intelligence.” (WebMD, 2005.) They do not all look alike. Some may have different shaped features such as, different eye shape, nose shape, head shape, or mouth. Many children with Down syndrome tend to look like their mother or
Also, there is a greater risk of a child having Down syndrome if the mother is over 35 years old.