Angelman Syndrome: Angels on Earth
Angelman syndrome (AS), first described by Dr. Harry Angelman in 1965 is a neuro-genetic disorder that arises in one of 15,000 live births in the nation. This syndrome most commonly presents developmental delays, minimal speech, and the inability to walk; these are very common symptoms of many other more frequently diagnosed disorders. It is often misdiagnosed as cerebral palsy or autism due to the similar characteristics it possesses and its lack of identification. However, the characteristic possessed by the individual who has Angelman is the expression of happiness. This kind of expression is associated with general exuberance and profuse smiling and laughing, as well as an elated personality. Due to the name and the joyful demeanor, carriers of this syndrome are called Angels.
The normal human karyotype comprises 22 chromosomes from the mother, and 22 from the father. AS is caused by the loss of the normal maternal contribution to a region of chromosome 15, most commonly by deletion of a segment of that chromosome. However, if the paternal contribution to a region of chromosome 15 took place, it would be called Prader-Willi syndrome, the sister disorder of AS. Both disorders can result from deletion, uni-parental disomy, single gene mutation, and imprinting defects of chromosome 15. These two conditions contain both complex similarities and clinical distinctions. They both feature neurological, developmental, and behavioral phenotypes as well as other structural and functional abnormalities. However, symptoms of AS include seizures and ataxia, while PWS includes obsessive-compulsive symptoms and hypothalamic insufficiency.
Angelman syndrome is most often detected at six years old but become...
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...ample would be the PODD system (Pragmatic Organization Dynamic Display). This tool has been proven effective for children with disabilities ranging on the autism spectrum and I believe could be beneficial to an Angel.
Angelman Syndrome is a neuro-genetic disorder, brought upon the body through the mutilation or deletion of the maternal 15th chromosome. The prevalence of this disorder is still constantly debated because of the common symptoms it shares with other disorders, making it difficult to recognize and differentiate. More specific studies of behavior are needed to increase the range of knowledge on such a complex disorder. In 2007 Dr. Weeber relieved a mouse model of many symptoms of Angelman Syndrome. Studies of this disease are crucial for finding the cure. Even though this is a difficult challenge, there are signs of hope to cure this disease for humans.
I chose not to use any of the prompts provided, but instead connect the article to what I learned in my sociology class lass quarter. In class we watched part one of film series of Unnatural causes, titled Unnatural Causes: Is Inequality Making us Sick "In Sickness and in Wealth". While reading the article this reminded me about the cases studied in the film to see whether wealth inequality contributes to making people sick. In the film they focused on the social determinants of health, wealth and education. In both the article and part one of the film Unnatural Causes they focused on three different individuals and how their health are affected by they choices they make and the access they have to care.
Holland, A., Treasure, J., Coskeran, P., & Dallow, J. (1995). Characteristics of the eating disorder in Prader-Willi syndrome: implications for treatment. Journal Of Intellectual Disability Research, 39(5), 373-381.
(Calendar 2013) Waardenburg Syndrome is a rare genetic disorder meaning that is caused by a mutation of genes. The disorder is classified as type I, II, III, or IV based on inheritance pattern and symptoms (Genetics 2013). Waardenburg Syndrome is an incurable disorder that is inherited from either one or both parents. If it came from one parent, it is an autosomal dominant pattern and if it came from both, it is known as an autosomal recessive pattern (Calendar 2013).
Asperger syndrome belongs to a group of childhood disorders commonly known as pervasive developmental disorders or PDD's. The disorder is recognized as a less severe case of autism. Children who have the disorder have a difficult time in social settings but excel in other areas of inteligence. The disorder is usually a lifelong struggle but has few cases where the patent recovers in adulthood. The disorder is not widely understood by the population but it is becoming a more well known disorder. There is currently no cure for this disorder.
The cause of AS is still very much unknown.Children with Asperger syndrome start to show signs as early as one to two years old; however a diagnosis is rarely given until later, usually around the ages of th...
Barriers to Progress: Possible barriers to progress include a diagnosis of Angelman syndrome, Epilepsy, and physical barriers attributed to these diagnoses.
In the brain, the Angelman gene is primarily expressed from the maternally inherited chromosome 15. There are four known genetic mechanisms that cause Angelman syndrome. The most common way of getting Angelman syndrome is through chromosome deletion. This is responsible for about 68% of all cases of this syndrome. The chromosome deletion removes the area where 15q12 is found and its surrounding area.
To be more specific, this disorder is referred to as Autism or ASD, Autism Spectrum Disorder.
PWS occurs in about l in 10,000 births. It occurs in both males and females
There is no known single cause of autism. Researchers are investigating a number of possible theories including genetics, heredity, medical problems, problems during pregnancy or delivery, as well as environmental influences. It is widely accepted that it is caused by abnormalities in the brain structure or function. There is evidence from neuropathological studies that autism has its origins in abnormal brain development early in prenatal life which continues postnatally, showing acceleration in brain growth measured by head circumference (Zwaigenbaum, L., Bryson, S., Rogers, T., Roberts, W., Brian, J., & Szatmari, P., 2005). The disorder also seems to have a genetic basis, although researchers have yet to find the specific genes that link to the onset of autism. There could be a cluster of genes that have somehow interfered with normal brain development and function. Studies show that twins of children with autism were more likely to be autistic themselves than the regular population, demonstrating there is a heredity lin...
Dr. Hans Asperger was the first to describe Asperger’s Syndrome, also known as AS, in 1944. He explained that AS causes clumsiness, poor motor skills, and an inability to walk or run smoothly (Miyahara, Tsujii, ...
Autism is directly linked to five chromosomes. The five that are linked to it are chromosome 2, chromosome 3, chromosome 7, chromosome 15 and chromosome X. chromosome is defined as an organized package of DNA found in the nucleus of the cell. different organisms have different numbers of chromosomes. humans have twenty-three pairs of chromosomes. twenty-two of them are numbers chromosomes which are called autosomes, and one pair of sex chromosomes which are x and Y.
Understanding autism, which is professionally known as Autism Spectrum Disorder, otherwise known as (ADS) can be a difficult task, especially for someone who is not trained in helping persons with disabilities. The first person to discover autism was a child psychiatrist, Dr. Leo Kanner in 1943. He names the spectrum disorder after the Greek word autos, meaning of or for oneself, due to the way the child display social avoidance. Many doctors’ believed in the past that autism was caused by the way the mother not caring for her child properly or ignoring him or her. There was also a time when it was thought to be caused by certain environmental stresses that cause neurological issues within the brain. Autism is one of the most misunderstood
Autism is a developmental disorder which affects many small aspects of the person's life and can sometimes affect major parts. Autism affects 1 in 68 children and for most it’s a lifelong
Wilson disease is caused by a mutation in the ATP7B gene. The ATP7B gene is responsible for the metabolism of coper in our bodies. ATP7B gives instructions for making copper-transporting ATPase proteins. These proteins help with the transport of metals into and out of cells. (U.S. National Library of Medicine, 2016).