Famous People With Angelman Syndrome:
Angelman syndrome is a rare genetic disorder that affects the development of the nervous system. Many famous people are afflicted with this condition and can inspire others not to give up, no matter how difficult life may seem. Whether they were born with this disorder or contracted it later in life, they all found success by never giving up on their dreams.
What is Angelman Syndrome?
A genetic disorder, Angelman Syndrome is characterized by intellectual disability, seizures, jerky movements, and laughter. The disease is caused by a problem with the genes that produce the protein called UBE3A. It can be passed down from either parent. Angelman syndrome is a genetic disorder characterized by intellectual disability, seizures, jerky movements, and laughter. It’s caused by a problem with the genes that produce the protein called UBE3A. The mutation interferes with the production of this protein and is passed down from parents to their children.
Because the mutation is a change in a single letter (A for one copy of a gene, G for another), it is considered “simple.” It is thought that about 90% of people with Down syndrome have two such mutations — one from each parent. The other 10% have three or more simple modifications.
Symptoms of Angelman syndrome
The symptoms of Angelman syndrome are difficulty maintaining balance, trouble initiating movements, jerky muscle contractions, frequent seizures, and intellectual disability. Symptoms of Angelman syndrome include difficulty maintaining balance, difficulty initiating activities, irregular muscle contractions, frequent seizures, and intellectual disability. Some children with Angelman syndrome are developmentally delayed, while others have average or near-normal intelligence.
Children with Angelman syndrome may have many physical traits, including large head size, thin arms and legs, small hands and feet, an upward-slanting eye (esotropia), a flat face with a broad nose, thick lips, and sparse hair. The condition is typically detected during childhood, although a small number of children are born with it. The body does not produce enough growth hormone, or the pituitary gland does not respond appropriately to growth hormone (or a combination of both). This can happen when a person has a pituitary tumor, which secures growth hormone production beyond what is needed for average growth.
The Positive Side of Angelman Syndrome
Possible positive outcomes of Angelman Syndrome are that people with the disorder often have average intelligence, and there is sometimes an increase in creativity. The Positive Side of Angelman Syndrome is that people with the disease often have average intelligence, sometimes increasing creativity. In addition, it is a manageable condition to live in.
The Negative Side of Angelman Syndrome is that people with the disorder often have learning disabilities and behavioral problems. Also, they can be socially isolated and have limited career options because they have language deficits.
What are the different subtypes of Angelman Syndrome?
There are two subtypes of Angelman Syndrome: classic and non-classic. In the traditional form, a genetic mutation causes part of the DNA on chromosome 15 to be deleted. This deletion disrupts the arrangement of genes in the long arm of chromosome 15 and affects how genes are expressed during fetal development. As a result, some or all of the genes on the short arm of chromosome 15 do not get switched on properly. The result is a severe loss of function of these genes.
Treatment of Angelman syndrome
Treatment for this syndrome is often complex. There are few effective treatments for the symptoms, and while some have been found to alleviate symptoms in some cases, there is no treatment that will fully correct the condition. Many signs of Angelman syndrome can be treated with occupational therapy or physical therapy. The cure for this condition aims to improve communication, increase strength, and increase independence. Treatment of Angelman syndrome can be complex. The main medications used are antipsychotic medications. Such drugs are not effective in treating the problems caused by seizures.
Breathing problems may be treated with continuous positive airway pressure (CPAP) to keep the upper airway open at night. If a device is not available, a respirator can be used. Other interventions include deep breathing exercises and pacing. Some families give their children medications to control seizure activity. Neurofeedback is a form of behavioral therapy that helps prevent the child’s brainwaves through technology that detects changes in brain activity.
Even with effective treatment, some kids will have occasional seizures. Children who have frequent episodes can develop a condition called epilepsy. This can be treated effectively with medication and sometimes surgery.
Famous people with Angelman syndrome
Many famous people have Angelman syndrome. Among them are Sam, the son of actor David Arquette and actress Courteney Cox; James Caviezel, an American actor who played Jesus in the movie The Passion of the Christ; Andy Warhol, an American artist whose work has been used in all aspects of modern life; Larry King, an American television personality; Antonio Banderas, a Spanish actor; and Johnny Depp, an American actor. Many famous people have credited their success to the time spent in a wilderness environment.
In many cases, an individuals’ love for nature has been instrumental in shaping their careers. For example, Jeff Bridges, who starred in The Big Lebowski, credits his love of the outdoors for his role as Huckleberry Finn. Many scientists have also credited their love of the natural world with helping them make breakthroughs in research and discovery.
An associate professor of neuroscience at New York University, Steven Kotler, believes that getting lost in nature can be just as valuable to society as a Ph.D. “There’s this myth that we need more credentialed scientists and engineers,” he said. “But so much innovation has come from creative, un-credentialed individuals.”
Kotler spent many of his formative years hiking with his family.
Famous people who have died with Angelman syndrome
Individuals with Angelman syndrome have a typically happy demeanor and may fall due to the lack of balance. They also have a broad smile and may swing their arms about.
About half of individuals with Angelman syndrome do not develop the physical features commonly associated with the disorder, including seizures, speech problems, poor coordination, intellectual disability, or unusual behavior (psychomotor development). These individuals are referred to as having “mild” or “late-onset” Angelman syndrome. The mild form of the disease occurs in 1% to 2% of affected individuals. Patients may or may not have gastrointestinal symptoms.
Symptoms improve after a few weeks and then disappear in a mild form. About 10% of patients have symptoms that last for months or years without resolving. When the disease progresses to the severe form, symptoms tend to be more powerful and include diarrhea, weight loss, poor growth in children, and sepsis (a severe blood infection).