Angelman syndrome is a rare genetic disorder that affects around 1 in around 12,000-20,000 live births and affects both males and females equally. Angelman syndrome is very often misdiagnosed as autism or cerebral palsy. Angelman syndrome is not an inherited disease, and is instead caused by a change in the E3 ubiquitin protein ligase gene (UBE3A) on the maternal chromosome 15. This change prevents the chromosome from functioning properly. It occurs as a random event during the formation of eggs and sperm, or in the early stages of embryonic development. There are four distinctive causes for Angelman syndrome, and each of those causes can be determined by genetic testing. All four causes produce the same syndrome, because they all affect the
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Harry Angelman, described in a paper that he published in 1965. He studied kids who had lots of similar symptoms, such as unusual happiness, excessive laughter, little to no speech, mental delay, and seizures. The disorder was originally called ‘Happy Puppet Syndrome,’ because of the happy demeanor and jerky movements of those diagnosed with Angelman, but was later renamed because the name was found to be offensive. The research on this syndrome started in 1964, when three kids were admitted to a children’s ward in England with a variety of disabilities. It was originally thought that they all had different conditions, but there seemed to be a common cause for the way they acted. In 1987, a physician at the Oregon Health Science Center named Ellen Magenis researched children who had micro-deletions in chromosome 15, the affected chromosome in Angelman syndrome. It was first though that these kids had Prader-Willi syndrome, but they suffered from developmental delay and seizures, which is not typical of people with Prader-Willi syndrome. Prader-Willi syndrome is caused by a change in chromosome 15, but only the paternally derived gene, while Angelman syndrome only affects the maternally derived …show more content…
All people with the syndrome suffer from a developmental delay, speech impairment, a movement of balance disorder, frequent laughing and smiling, and a short attention span. More than 80% of people diagnosed have disproportionate head, and seizures that start below the age of three, and anywhere from 20 to 80% suffer from a protruding tongue, deep set eyes, sucking or swallowing disorders, scoliosis, feeding problems (during infancy,) exaggerated reflexes, a wide mouth and wide spaced teeth, crossed eyes, microcephaly (a small head,) a projecting jaw, frequent drooling, light hair and eyes (which is only seen when the gene has been deleted,) and fascination with water. Symptoms of Angelman syndrome should be noticeable when a child is between 6-12 months old, and the first signs are typically a lack of crawling or babbling, and seizures typically begin between the ages of 1 and 5. Children with Angelman syndrome tend to be hyperactive and have a short attention span, but this usually decreases with age. Many children with the syndrome have trouble sleeping and/or abnormal sleep cycles, but they also require less sleep than most other kids. Angelman syndrome doesn’t worsen much with age, instead those diagnosed become less excitable, have an easier time sleeping, and have a longer attention span, along with decreased mobility due to the stiffening
Harry Angelman, described in a paper that he published in 1965. He studied kids who had lots of similar symptoms, such as unusual happiness, excessive laughter, little to no speech, mental delay, and seizures. The disorder was originally called ‘Happy Puppet Syndrome,’ because of the happy demeanor and jerky movements of those diagnosed with Angelman, but was later renamed because the name was found to be offensive. The research on this syndrome started in 1964, when three kids were admitted to a children’s ward in England with a variety of disabilities. It was originally thought that they all had different conditions, but there seemed to be a common cause for the way they acted. In 1987, a physician at the Oregon Health Science Center named Ellen Magenis researched children who had micro-deletions in chromosome 15, the affected chromosome in Angelman syndrome. It was first though that these kids had Prader-Willi syndrome, but they suffered from developmental delay and seizures, which is not typical of people with Prader-Willi syndrome. Prader-Willi syndrome is caused by a change in chromosome 15, but only the paternally derived gene, while Angelman syndrome only affects the maternally derived …show more content…
All people with the syndrome suffer from a developmental delay, speech impairment, a movement of balance disorder, frequent laughing and smiling, and a short attention span. More than 80% of people diagnosed have disproportionate head, and seizures that start below the age of three, and anywhere from 20 to 80% suffer from a protruding tongue, deep set eyes, sucking or swallowing disorders, scoliosis, feeding problems (during infancy,) exaggerated reflexes, a wide mouth and wide spaced teeth, crossed eyes, microcephaly (a small head,) a projecting jaw, frequent drooling, light hair and eyes (which is only seen when the gene has been deleted,) and fascination with water. Symptoms of Angelman syndrome should be noticeable when a child is between 6-12 months old, and the first signs are typically a lack of crawling or babbling, and seizures typically begin between the ages of 1 and 5. Children with Angelman syndrome tend to be hyperactive and have a short attention span, but this usually decreases with age. Many children with the syndrome have trouble sleeping and/or abnormal sleep cycles, but they also require less sleep than most other kids. Angelman syndrome doesn’t worsen much with age, instead those diagnosed become less excitable, have an easier time sleeping, and have a longer attention span, along with decreased mobility due to the stiffening