Kirsten Smith
Dr. Susan Yeager
KINE 260: Online
April 30, 2010
Angelman Syndrome
Angelman Syndrome is a rare genetic disorder that only occurs about once in every 20,000 births. My nephew, Dylan Jefferson Walker, is a four year old child who was diagnosed with Angelman Syndrome when he was 11 months old. “Angelman syndrome is most often caused by problems with a gene located on chromosome 15 called the ubiquitin-protein ligase E3A (UBE3A) gene. Most cases of Angelman Syndrome occur when part of the maternal chromosome 15, which contains the UBE3A gene, is missing or damaged”. (3)
“Characteristics of Angelman Syndrome include; developmental delay, lack of speech, walking and balance disorders, and seizures. Individuals with Angelman Syndrome will require life-long care”. (4) Other symptoms include lack of or minimal speech, frequent smiling and laughter, happy excitable personality, stiff jerky movements, crossing of the eyes, flatness in the back of the head, and light pigmentation.
History of Angelman Syndrome
Angelman syndrome was first described by an English pediatrician, Dr. Harry Angelman, in 1965. He noticed similar developmental problems in three children that were under his care; they all had a very happy demeanor and tended to flap their hands when excited. Dr. Harry Angelman described these three children in his paper called “Puppet Children”. "It was purely by chance that nearly thirty years ago (e.g., circa 1964) three handicapped children were admitted at various times to my children's ward in England. They had a variety of disabilities and although at first sight they seemed to be suffering from different conditions I felt that there was a common cause for their illness. The diagnosis was purely a clinical one because in spite of technical investigations which today are more refined I was unable to establish scientific proof that the three children all had the same handicap. In view of this I hesitated to write about them in the... [continues]
Dr. Susan Yeager
KINE 260: Online
April 30, 2010
Angelman Syndrome
Angelman Syndrome is a rare genetic disorder that only occurs about once in every 20,000 births. My nephew, Dylan Jefferson Walker, is a four year old child who was diagnosed with Angelman Syndrome when he was 11 months old. “Angelman syndrome is most often caused by problems with a gene located on chromosome 15 called the ubiquitin-protein ligase E3A (UBE3A) gene. Most cases of Angelman Syndrome occur when part of the maternal chromosome 15, which contains the UBE3A gene, is missing or damaged”. (3)
“Characteristics of Angelman Syndrome include; developmental delay, lack of speech, walking and balance disorders, and seizures. Individuals with Angelman Syndrome will require life-long care”. (4) Other symptoms include lack of or minimal speech, frequent smiling and laughter, happy excitable personality, stiff jerky movements, crossing of the eyes, flatness in the back of the head, and light pigmentation.
History of Angelman Syndrome
Angelman syndrome was first described by an English pediatrician, Dr. Harry Angelman, in 1965. He noticed similar developmental problems in three children that were under his care; they all had a very happy demeanor and tended to flap their hands when excited. Dr. Harry Angelman described these three children in his paper called “Puppet Children”. "It was purely by chance that nearly thirty years ago (e.g., circa 1964) three handicapped children were admitted at various times to my children's ward in England. They had a variety of disabilities and although at first sight they seemed to be suffering from different conditions I felt that there was a common cause for their illness. The diagnosis was purely a clinical one because in spite of technical investigations which today are more refined I was unable to establish scientific proof that the three children all had the same handicap. In view of this I hesitated to write about them in the... [continues]
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