Prader Willi Syndrome Essay

Asperger’s syndrome is becoming more and more common as time goes by. Each year, more children are being diagnosed. This paper focuses on Asperger’s Syndrome and developing social skills in various social settings. By looking at the etiology, diagnostic procedures, how the condition effects development, daily challenges, current social/cultural views, and relevant social interventions, a better understanding on how to develop social skills for children with Asperger’s Syndrome can ensue. The world revolves around social situations. This is how people are hired for jobs, ask for things, make new friends, meet their future spouse, etc. At the moment, social skills training and social support is minimal compared to where it potentially

"Williams Syndrome - Genetics Home Reference." U.S. National Library of Medicine. National Institutes of Health, 212 Mar. 2017. Web. 21 Mar.

Asperger’s syndrome, which is also referred to as Asperger's disorder, is a type of Persuasive Developmental Disorder. Persuasive Developmental Disorder or PDD are a group of conditions that involve delays in the development of basic skills, the most recognizable of these skills is the ability to communicate and socialize with others as well as use their own imagination. Although Asperger's syndrome is similar in some ways to autism, there are important differences between the two. Children with Asperger's syndrome typically function higher than those children with autism. In addition to them being higher functioning; children with Asperger's syndrome generally have normal intelligence and slightly less than normal language development.

and a special feeding method called a gavage is used.A gavage the placing of a

Duane’s Syndrome is a rare genetic disorder. A Genetic disorder is usually a irregularity in the genes or in the chromosome, these irregularities can be anything from not fully developed, not being there at all, or even having an extra unneeded set. These When someone thinks of a genetic disorder they may think of the very well known disorder of Down's Syndrome, but what people may not know about is the rare disorder called Duane’s syndrome. This syndrome is eye movement limitation syndrome that is usually involved with restricting the eye(s) from moving to the left or right. Moving the eye towards the nose could result in the eye restricting, and/or the eye shooting up or down (Duane syndrome). The simple reason that it is a lesser known

This syndrome is not very common, because it is a rare condition. Its prevalence is not certain, but the proximate amount is 5 to 10 individuals per million newborns. Research workers appraise that there are approximately 200 to 300 individuals around the world who have this disorder. It is observed with equivalent recurrence in both males and females over all ethnic groups.

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

Prader-Willi and Angelman Syndrome are two genetic disorders with vastly differing phenotypes linked by missing genetic imprints on the 15th chromosome’s q arm between regions 11 and 13 . While both orders result in mental deficits, their symptoms are otherwise segregated from the other in their entirety. The differences in the disorders are the result of differing DNA methylation patterns present in maternally and paternally inherited DNA. If the deletion occurs in the mother’s DNA, then Prader-Willi Syndrome appears. When the deletion occurs in the father’s DNA, Angelman Syndrome is the result.

Five other gene disorder that contributes to autism are (1) "EN2 (Engrailed 2) involved in cerebellum development. (2) GABR (Gamma Amino Butyric Acid Receptor) regulates brain cell migration. (3) OXTR (Oxytocin Receptor) participating in the response to stress and social skills. (4) RELN (Reelin) involved in neuronal migration in the developing brain. (5) SLC6A4, a serotonin transporter gene” (Johnson, Giarelli, Lewis, & Rice, 2013). As a result of all the researches done several chromosomal loci have been shown to be linked to Autistic Spectrum disorder including those at 2q24-2q31, 7q22-7q31, 7q34-7q36, and 17q11-17q21. Structural chromosomal changes involving deletions and duplication at 7q11, 15q11-15q13, 17p11.2, 22q11.2, and 22q13 have also been associated with forms of autism. However, the most common chromosomal abnormalities currently associated with autism include the fragile X mutation, other sex chromosome abnormalities, and abnormalities of 15q11-q13. “Evidence has shown that duplications of 15q11–q13 have led to higher risks of Autism Spectrum Disorder and developmental and cognitive deficits” (Flashner, Russo, Boileau, Leong, & Gallicano, 2013). Chromosome 15q11-q13.1 region is subject to genomic imprinting, which is an epigenetic process that results in monoallelic gene expression. Duplications lead to autism and are usually maternal in origin. Deletion of the maternal allele of chromosome 15q11-q13 cause Angelman syndrome (AS) a neurodevelopmental disorder

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.

This case study describes the difficult decisions and agony that Frank and Anita had to face in August of 2000 when their daughter Chanou was born with an extremely rare, incurable metabolic disorder. Because of the disorder, Chanou had an abnormal bone development that brought about a constant pain that prevented her parents from even touching her without causing increased pain.

A 17 year old boy diagnosed with Prader Willi was brought in by his mother. (IQ= 75)

Living with disabilities on a daily basis can be more difficult then some realize. Many people who are born with developmental disabilities start their education and therapy at a very young age and there are also those people who have been diagnosed with a disability sometime during their lifetime. But what is there for them to do once they have graduated from high school or are told they are too old to continue in a regular school or they are simply told they aren’t accepted in the “normal” community? In all reality there really

The human brain is utterly baffling. A small organ weighing merely three pounds as an adult has the ability to control and shape a human’s life. Without it there would be nothing. There are so many different functions… and with that there are so many things that can go horribly wrong. It is amazing the capacities and that it possesses and we do not even realize it. That is why studying neurology and working on the treatment of neurological disorders is so critically important. Through the examination of Huntington’s disease, Bell’s Palsy, and Aphasia, neurologists can work to better the human mind and cure the diseases that attack it, which will infinitely enhance the lives of humans and create a brighter future for us all.

known risk factor is advanced maternal age-at age 35, a woman has 1 chance in