Williams Syndrome Essay

David Williams Funeral Service INC. No other dba were reported. Risk is a full funeral home service company. The risk has been in business since May 1991 at this current location. The risk operates year-round and David Williams is the President. Hours are 10. 00 AM-6.00 PM, Monday thru Sunday and service hours are 9.00 AM-5.00 PM, Monday thru Saturday. The risk is an own funeral limousine / hearse services providing limo services to his funeral homes service when they need it.

A person’s current life can be greatly influenced by past experiences, especially when those experiences involve heartbreak and tragedy. In the book Hotel On the Corner of Bitter and Sweet, Henry contends with the communication flaws with his father and his best friend Keiko who who was separated from him due to World war 2. His father’s racial bias towards Keiko and Japanese people in general affects Henry in a very profound way. Racial tension and victimization between two different cultures can have a great impact on family relations and love.

AS is caused by a deletion or mutation on the maternal chromosome 15, alteration in UBE3A gene, paternal uniparental disomy, translocation, or mutation in the gene that activates UBE3A gene. PWS is a deletion or mutation on the paternal chromosome 15, uniparental disomy, or translocation. The loss of the SNORD116 gene on chromosome

In the Article Common Genetic Disease Linked to Father’s Age scientist from the University of Southern California observed new cases involving the Noonan Syndrome. In their study, they noticed that more cases of this disease are becoming more common in older men. Noonan Syndrome, formally heard of as the Turner-like Syndrome is a genetic mutation that affects many areas of the body. According to the article, “The disease can cause facial abnormalities, short stature, heart defects, intellectual disability and sometimes blood cancers.” More importantly, What is the cause of this disease? And, Why is it becoming more common? In some cases, an affected person inherits the mutation from its parent. However, scientist have found that in other

About 10% of those who encounter it experience it from a pattern through their family(Duane’s Syndrome). When the syndrome does transmit through family patterns there have been cases in which duane’s syndrome has skipped generations and different family members have encountered individual levels of asperity. These genes can be found as both recessive and dominant although dominant is the most common form of the syndrome. While experiencing this disorder you can experience 3 types of symptoms all varying in the eyes ability to move inward or outward, also including the eyes retraction, closing of the eye opening, and downshoot or upshoot when looking inward (Duane’s

For a student with Williams Syndrome they continue to fall behind with development and maturity behind their peers. Students begin to struggle with fitting in because their social skills are less appropriate. Their interests are not as varied as their peers which makes it a greater challenge socially. Students can have increased anxiety and depression and they “don’t understand why they’re different” (fact sheet). Students with Williams Syndrome have decreasing activity levels, but they continue to acquire new skills.

For the purpose of this case study a focus will be placed upon the PRS and associated chromosomal deletions, which have caused global developmental delays, learning delays and present Jane with social and emotional challenges. Also considered will be the Duanes Syndrome and resulting visual impairment.

Williams Syndrome(WS) is considered as a neurodevelopmental disorder, caused by a contiguous gene deletion of about 26 genes from the long arm of chromosome 7(Peoples et al., 2000). Since it had been first aware by J.C.P. Williams in 1961(Lenhoff, Wang, Greenberg & Bellugi, 1997), Williams Syndrome has drawn more attention in last 40 years. the incidence rate is approximately 1 in 2000 and diagnosed generally at 6.4 years old (Morris, Demsey, Leonard, Dilts & Blackburn, 1988). People with WS usually show a developmental delay at the early age and are affected all life long. Williams Syndrome is characterised by some abnormalities in physical, behavioural, and cognitive.

Noonan Syndrome is the most common syndrome you’ve never heard of. Noonan Syndrome is a genetic disorder that affects normal growth in different parts of the body. It is caused by a genetic mutation that is attained when a child inherits a copy of an affected gene from a parent. It affects a large amount of people all over the world.

scoliosis, cataracts , scars, overweight, Chrohn diseasChromosome Patterns The normal female has 46 chromosomes, of

Smith-Magenis Syndrome (SMS) is a chromosomal disorder due to the deletion of genetic material on chromosome 17, more specifically 17p11.2 (PEDNEUR). It is estimated that SMS occurs in about 1 in every 25,000 births, affects boys and girls equally, and is underdiagnosed because there’s not as much awareness about it compared to other disorders and syndromes (PRISMS). Therefore, the prevalence may be 1 in every 15,000 births, and most of the people with SMS have been identified in the last 5 to 10 years due to improved cytogenetic testing (PEDNEUR). SMS was first discovered by Ann C.M. Smith a genetic counselor, and Dr. R. Ellen Magenis a physician and chromosome expert in 1986 (PEDNEUR).

In conclusion, genetic disorders mutate the DNA and in some cases, delete portions of it. Williams Syndrome is a genetic disorder that affects the genetic material on the seventh chromosome. The locus of 7q11.23 has over 25 genes deleted, which is why Williams Syndrome has so many implications and symptoms. Distinct facial features and facial structure characterize Williams Syndrome. It can also be marked by severe cardiovascular difficulties and other issues that make life quite difficult for the person suffering from this disorder. Williams Syndrome also affects the mental capacity and logical thinking of the brain. This implies that daily tasks and schoolwork can be greatly affected and require special care. Williams Syndrome is also considered

Being a new parent to a child with a disability can be challenging but with the right knowledge, anyone can develop a positive mindset. A child with a rare genetic disorder like Williams Syndrome is unique like any other child. Besides every child with Williams Syndrome having a developmental and/or learning disability, they are susceptible to heart problems as well. There is a shorter life expectancy that comes along with this condition but managing symptoms may help. Along with weaknesses, Williams Syndrome also comes with many strengths as you will find out, strengths such as good social skills, great verbal abilities, and many times children respond well to music-related hobbies.

Thank you for giving me the additional resources and other tools that I need to be successful in your class. Although, I did not come out directly and say what was going on with me from a personal perspective, this was an uphill battle for me. Over the past year I have been in and out of work quite frequently secondary to a back surgery that had gone wrong and constantly hurt 24/7. When all is said and done, it was not the easiest thing to concentrate while hurting, however, my family, friends and you gave me the courage to keep pressing. Most times when I tried to grasp the material during multiple episodes of pain, the end result was not what I expected, but I reamin positive.

Most children with the disorder have extreme developmental and intellectual delays. According to an article from the National Organization of Rare Disorders, as children age, they “experience poor growth and exhibit short stature” (NORD 1). The organization also states that most children experience developmental milestones, like crawling and expressive speech, later than normal. Children also experience behavioral issues, including the inability to pay attention, sensitivity to varying sounds, and spontaneous moods. Congenital heart defects, abnormal lungs, spinal deformities, and various malignancies are common among individuals diagnosed with RSTS. Many physical features are also affected. The American Association for Pediatric Ophthalmology and Strabismus describes the ocular symptoms of RSTS as downward “slanting… eyes, widely spaced eyes, strabismus (eye misalignment), ptosis (droopy eyelid),… frequent eye infections… [and] congenital glaucoma” (AAPOS 1). Diagnosed individuals may also have a beak-like nose, small head, small mouth or jaw, overly broad fingers (mainly thumbs) and toes, or warped or duplicated foot