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Angelman syndrome is named after a British pediatrician, Dr.
Harry Angelman, who first gave a description for the syndrome in An older, term for Angelman syndrome, "Puppet Children" is considered offensive and Angelman syndrome research paper so it is no longer the accepted term. Angelman explained his choice of the title "Puppet Children. Angelman said that the term was related to an oil painting he had seen while vacationing in Italy: In view of this I hesitated to write about them in the medical journals.
However, when on holiday in Italy I happened to see an oil painting in the Castelvecchio Museum in Verona called. The boy's laughing face and the fact that my patients exhibited jerky movements gave me the idea of writing an article about the three children with a title of Puppet Children.
It was not a name that pleased all parents but it served as a means of combining the three little patients into a single group.
Later the name was changed to Angelman syndrome. Individuals with Angelman syndrome are sometimes known as "Angels", both because of the syndrome's name and because of their youthful, happy appearance.
Angelman syndrome is a neuro-genetic disorder an illness that affects or is centered in the brain, caused by abnormalities in genes or chromosomes.
We all inherit two copies of every autosomal gene, An autosome is a chromosome that is not a sex chromosome. There are an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, X and Y.
So, humans have 23 pairs of chromosomes, one copy from our mother and one from our father. Both copies are functional fo r the majority of these genes; however, in a small subset one copy is turned off. Angelman syndrome, is caused by the deletion or inactivation of genes on the maternally inherited mother given chromosome 15 while the paternal copy father givenwhich may be normal, is imprinted stamped and therefore silenced.
Characteristics of Angelman syndrome There are many characteristics of this syndrome, some occurring all of the time some are per individual case. These can be, but are not limited to; Sleep disturbance, Seizures, jerky movements especially hand-flappingfrequent laughter or smiling, and usually a happy demeanor, Tongue thrusting, Sucking and swallowing disorders, frequent drooling and protruding tongue.
These include the following: Delayed, growth in head circumference, usually resulting in microcephaly by age 2.
This means that the circumference of the head is two times smaller than the average person. Some will have a flat back of the head. Seizures, usually starting at 3 years of age can be earlier. Eyes are not properly aligned. Hypopigmented skin and eyes loss of color.
Feeding problems during infancy due to swallowing issues.
Uplifted, flexed arms during walking. Increased sensitivity to heat. Wide mouth, wide-spaced teeth. Individuals with AS exhibit a deep desire for personal interaction.
Communication can be difficult at first, but as a child with AS develops, there is definite character and ability to make themselves understood. They tend to develop strong non-verbal skills to compensate for their limited use of speech.
It is widely accepted that their understanding of communication directed to them is much larger than their ability to return conversation.
Most will not develop more than words, if any at all. However, there are difficulties in determining the levels and types of anti-seizure medications needed to establish control, because AS is usually associated with having multiple varieties of seizures, rather than just the one as in other cases of epilepsy.
Seizures are a consequence, but so is excessive laughter, which is a major hindrance to early diagnosis. Many families use melatonin to promote sleep.
Many individuals with Angelman syndrome sleep for a maximum of 5 hours at any one time. Mild laxatives are also used frequently to encourage regular bowel movements and early intervention with physiotherapy is important to encourage joint mobility and prevent stiffening of the joints. Children with Angelman syndrome qualify for special education under a few of the above mentioned categories.
They can qualify as soon as a diagnosis is made which is usually before 2 years old. There are early intervention programs that take place that open up the special education process for these children and their families.Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system.
Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, speaking problems, balance and movement problems, seizures, and sleep problems.
Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe learning difficulties, ataxia, a seizure disorder with a characteristic EEG, subtle dysmorphic facial features, and a happy, sociable disposition. Most children present with delay in developmental milestones and slowing of head growth during the first year of life.
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In Angelman syndrome, the maternal chromosome is damaged, damaging the paternal leads to Prader-Willi syndrome. According to the results of several independent studies, the cause of Angelman syndrome may be a mutation in the gene UBE3A. Angelman syndrome research paper quellenangabe dissertationen george orwell setting essays research paper about cancer the working poor shipler essay help vegetarianism essay thesis on pearl essay education for future development big.