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Causes and effects of Down syndrome
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Genetic Disorder: Down Syndrome Down syndrome is different in every patient from mild to severe but the most common physical signs are low muscle tone, extra skin around the neck, a flattened nose, a single crease in the palm, small ears, small mouth, eyes that are slanted upward, hands that are wide but short fingers, and have brushfield spots (PubMed Health). The National Down Syndrome Society has listed many complications that can occur with Down syndrome patients, for example, individuals with the disorder and are diagnosed with attention deficit hyperactivity disorder have not been proven enough to be said it is very common for children to have ADHD while diagnosed with Down syndrome, but they do show symptoms. The most common complications …show more content…
Down Syndrome Soc.). The National Down Syndrome Society says that, “Stenotic ear canals (narrow ear canals) can occur in up to 40-50% of infants with Down syndrome.” Infants with narrow ear canals have a higher risk of getting more chronic ear infections than usual. Children and adults with Down syndrome are at risk of hearing loss and should get tests done; therefore, from birth up to three years of age should get tested every six months, after age three patients should get tested annually, and adults are mainly the ones who have a higher risk of hearing loss and should have frequent ear wax impactions. The most common throat problems for children is airway obstruction and about all people with Down syndrome have a complication with sleep related obstruction ; meanwhile, obstructive sleep-apnea, airway is blocked during sleep, is often overlooked (Natl. Down Syndrome Soc.). Another common problem listed by the National Down Syndrome Society for patients with the disorder is heart problems and about half the infants diagnosed with …show more content…
The four most common heart defects are Atrioventricular Septal used to call Endocardial Cushion, Ventricular Septal, Persistent Ductus Arteriosus, and Tetralogy of Fallot. Children who are diagnosed with Down syndrome only about half of them struggle with mental health problems. The most common mental health problems for the people with the disorder consist of oppositional, impulsive and inattentive behaviors; general anxiety, repetitive and obsessive-compulsive behaviors; autism spectrum conditions; neuropsychological problem characterized by progressive loss of cognitive skills; sleep related difficulties and depression (Natl. Down Syndrome Soc.). Another common complication that has been listed by the National Down Syndrome Society is dental issues. When a child is diagnosed with Down syndrome their baby and permanent teeth may come in later than their peers; thus, the person’s teeth are smaller, have shorter roots and have some teeth missing than the average usual. The Global Down Syndrome Foundation states the importance of the continuous learning of the disorder is important because it gives the scientists a better understanding of the process of the three copies of chromosome 21, and helps update the medical guidelines so that doctors or an individual’s guardian can
OME is a highly concurrent disease in young children with adenoid hypertrophy. However, young children are not capable of voicing their symptoms of hearing loss or the parents pay less attention of the child’s hearing change; some of them with adenoid hypertrophy have ME in spite of no complaint of the hearing loss, which may be neglected if no accurate procedures for the assessment of the middle ear function are done.
"Down syndrome." South African Medical Journal 101.1 (2011): 6. Health Reference Center Academic. Web. 16 Apr. 2014.
...ve Achondroplasia. Clinical laboratories have available testing for the FGFR3 gene. When a child is diagnosed with Achondroplasia, parents should look for changes in bowel or bladder function, muscle weakness, and asymmetrical reflexes or respiratory problems. Many babies with Achondroplasia have troubles with repeating ear infections. Some may need ear tubes, which are placed into the ear to allow air in the middle ear to help lower the chances of ear infections. Without these tubes, the baby could lose its hearing. The spinal cord can also get compressed, making the upper airway obstructed, and increasing the risk of death for the baby. People with Achondroplasia also have breathing problems, during this breathing either stops or slows down for short amounts of time. ("GeneFacts")
Uyanik M, Kayihan H. 2010. Down syndrome: Sensory Integration, Vestibular Stimulation and Neurodevelopmental Therapy Approaches for Children. In: JH Stone, M Blouin, editors. International Encyclopedia of Rehabilitation. Available online: http://cirrie.buffalo.edu/encyclopedia/en/article/48/
“About 13 of every 10,000 babies born in the United States each year is born with Down syndrome. It affects an equal number of male and female babies” (Johnson P. A. 2014). Down syndrome is a genetic disorder that found across the world, however it is more prevalent in the United States. The cause of the disorder roots to the paring of the human chromosomes. A normal human receives 23 pairs of chromosomes, each pair coming from mother and father. In Down syndrome most people affected have an abnormal cell division of the chromosome. Both parents are carriers of the There are three types of variations that includes trisomy 21, mosaic, and translocation.
There is no actual behavior or environmental factor that could cause Down syndrome. Down syndrome is mainly caused by three different disorders. Trisomy 21, Mosaic Down Syndrome, or Translocation Down Syndrome, are three different types of causes. “Trisomy 21. About 95 percent of the time, Down syndrome is caused by trisomy 21 — the child has three copies of chromosome 21 (instead of the usual two copies) in all cells. This is caused by abnormal cell division during the development of the sperm cell or the egg cell.” Trisomy is the most common cause for the Down syndrome disorder. The Mosaic Down syndrome is a one of the rare causes that the disorder has. This happens when both normal and abnormal are caused by cell division after fertilization. Translocation Down Syndrome occurs when a part of the chromosome 21 attaches itself to another chromosomes and then it has two unusual copies of the chromosome. Children who have the disorder are different individuals and have different facial appearance. “Infants with Down syndrome may be average size, but typically they grow slowly and remain shorter than other children the same age. In general, developmental milestones, such as sitting and crawling, occur at about twice the age of children without impairment.” Knowing about all the causes or symptoms in Down syndrome can help to try to figure out a way to help the
It is well known that children have Down syndrome within physical features. They are not different than a person who does not have Down syndrome, but their physical features are quite different such as, facial appearance in the face, which is flatter. They also have a slant within their eyes, smaller ears and protruding tongue which is slightly bigger and suspends out a part from the mouth. (2)
A child who has Down Syndrome will have exclusive individual characteristics which they have inherited from their parents. The child may resemble their father, mother, grandmother, or aunt. This is true not only for their outward appearance but also for their temperament and physical and intellectual abilities. Children with Down Syndrome have different traits, for instance some can be easy-going while other are stubborn, some may like music while others show no interest. matter what, each of these children are unique and special in their own way.
Down syndrome is a genetic disorder, associated with the presence of an extra chromosome. Downs is characterized by mild to severe mental impairment, weak muscle tone, shorter stature, and a flattened face. Down syndrome is not a very common disease, one in every 691 children are born with Down syndrome. The disability is an illness that people are born with and is not contagious. Most people with Downs have a life expectancy of about 40 or 50 years of age. They only live for that short amount of time because they begin to develop a similar disease to Alzheimer’s. “100% of people with Down syndrome will develop some physiologic signs of Alzheimer’s when they are over 35 years old in the U.S” (Statistics about Down Syndrome). They also die earlier because having Down syndrome increases the risk of leukemia 15-20 times in the US. Therefore most people with Downs will die because of leukemia or heart problems before the age of 50.
Down syndrome also known as “trisomy 21” is a genetic condition in which a child is born with an extra chromosone which causes certain features and delays in development. In sexual reproduction (meiosis) the new cell will have half of the mothers chromosones 23 and half of the fathers chromosones 23 to make a total of 46 (23 pairs) in the new cell (zygote). In a child with Down Syndrome they will have an extra chromosone 21 making a total of 47 chromosones. There is no specific reason why this extra chromosone is present but the older the mother is when giving birth the more likely that her baby will have Down syndrome.
Down syndrome, a genetic disorder, is the most common cause for intellectual disabilities, occurring at an average of one out of every 700 births (CDS, 2006). This disorder is caused by the extra chromosome 21 (also known as Trisomy 21). According to Hassold and Sherman (2002), the probability of giving birth to a child with DS is not linked to any race, ethnicity, socioeconomic status or geographic location. Maternal age seems to be the only etiological factor that may cause DS.
As mentioned in the introduction, Down Syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 21. The extra genetic material is typically responsible for the alteration of physical development. Some of the most common physical traits of Down Syndrome are distinct facial features such as a upward slanting almond shaped eyes, a seemingly flattened face, a tongue that tends to stick out, and small ears. Some of the other physical traits that are sometimes present are short stature, poor muscle tone, and a crease across the palm of the hand (CDC). Due to the poor muscle tone in their bodies, people who have Down Syndrome are more susceptible to conditions such as obesity and sleep apnea...
crease, slightly flattened facial profile, an upward slant to the eyes, small mouth, and protruding
When a child is diagnosed with deafness, many parents often wonder what the exact cause of the child’s deafness is. In recent studies (Arnos K. &., 2007) 50-60% of hearing loss (moderate to profound, congenital, or early-onset) have shown genetics to be a large factor. Non genetic factors (i.e. maternal infection, prematurity or postnatal infection) may cause 40-50% of the remaining hearing loss. About one-third of children with hereditary deafness have features that are part of a genetic syndrome, and there are between 300-400 different forms of genetic deafness that are known. Most children benefit from a genetic evaluation as a dominant diagnostic tool in determining the exact cause of the deafness, and the role of the audiologist is pivotal in counseling parents of deaf children through this process.
Deafness is far more common than Down's Syndrome, yet you know more about the latter. We, as a society need to stop ignoring the voices of the voiceless. We need to learn to listen with our eyes and pay attention to our peers, regardless of differences, this is the only way we will be able to help the deaf community to gain independence and recognition as