Rett syndrome

Williams Syndrome (WS) is a rare genetic disorder that affects approximately 20,000 people in the United States. This condition is present at birth. The causes of Williams syndrome is due to the deletion of 26 plus genes on one of an individual’s chromosome #7. Individuals born with Williams syndrome share a number of common neurological, medical, and behavioral characteristics as well as common facial…

Autism is possibly one of the most well known disorders due to its nature. By this I am talking of many things, the range that it can affect people, the diagnosis rates, and the unique symptoms that can occur. In most peoples minds, Autism is an extremely damaging disease when talking of the quality of life for the one affected, but this isn 't necessarily true. Along with quality of life, the reasons for autism are also misunderstood and possibly incorrect. With diagnosis of Autism Spectrum…

Angelman Syndrome Description of the Disease An extremely rare and uncommon disease known as Angelman Syndrome is a very complex neurodevelopmental and monogenic disorder (Bailus, 2014). The term neurodevelopmental refers to the shape, reshape, state and generation of the nervous system during the embryonic stages of life, while the term monogenic can be explained as a disease, which is controlled and inherited, by a single pair of genes (Gentile, 2009). It is estimated that Angelman Syndrome…

Fragile X is a syndrome that I had little to no knowledge about before the presentation that Denise Devine gave us. From the presentation, I learned an array of information that will be helpful in my future. Denise touched upon a few topics that are important when understanding Fragile X syndrome. Fragile X the most common forms of mental impairment and is an inherited syndrome that is one of the leading developmental disabilities. One significant fact that is surprising is that Fragile X became…

appreciate. The complete tender point exam was performed and he is positive in 12 of the 18 classic tender points. He also has some induration over the right trapezius tender point that is more classic for the trigger points of a myofascial pain syndrome than the tender point of fibromyalgia. Other interesting historical…

I think that the author R.J. Palacio chose the song Beautiful Things for the Miranda section because Miranda alway say that Auggie is beautiful and is like a brother to her. I think that because on page 165 it says “ I've known Auggie since I was six years old. I've watched him grow up. I've played with him. I've watched all six episodes of Star Wars for his sake, so I could talk to him about the aliens and bounty hunters and all that. I'm the one that gave him the astronaut helmet he wouldn't…

Often described as “oddballs” or “loners”, people with Asperger’s have distinct qualities and characteristics. While there are many negative aspects of having Asperger’s Syndrome, there are a few positive notes. People with Asperger’s can be very loyal and caring friends. They say exactly what is on their minds with no filter. Those with Asperger’s tend to be more accepting and like people for who they are, and are easily…

that creates an extra portion or copy of the 21st chromosome. This disorder is called Down syndrome. It is the most commonly occurring chromosomal condition. People who are born with Down syndrome usually have a flat face ,Protruding tongue, Upward slanting eyes, Unusually shaped or small ears, Poor muscle tone, Broad, short hands with a single…

Down syndrome is one of the most common genetic disorders. Down syndrome is a genetic disorder where a person is born with an extra copy of chromosome 21. Down syndrome is a form of mental retardation. In the United States about 4,000 children are being born with this condition annually. One in about every 900 births is effected, making it the most common birth defect. There are three genetic variations that cause this disorder: trisomy 21, Mosaic Trisomy 21, or Translocation Trisomy 21. There…

When Ruth designed Barbie, she almost wanted her to be perfect, both physically and in lifestyle. In Barbie 's days of development and character production there were factors that affected how the doll was going to look to portray a certain life. Although they are seen as little things, Ruth wanted the doll to be an image to guide girls to adulthood. Those factors were that “the doll would be pretty, but not to the point the girl feels insecure. [Ruth] thought of the doll as a teen fashion model…