Angelman syndrome

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…

In 1965 Harry Angelman reported clinical findings in three children with similar, unusual, attributes. These children had what was known as “happy puppet” syndrome, but was later changed to Angelman syndrome, due to its pejorative name. Angelman syndrome is a neurodevelopmental disorder distinguished by: severe learning difficulties, ataxia, jerky movements, epilepsy, speech impairments, hypopigmentation in the hair and the skin with blue eyes, subtle dysmorphic facial features, and happy and…

Angelman Syndrome (AS) is a genetic disorder of the ubiquitin-protein ligase E3A or UBE3A on the 15th chromosome. If this is gene damaged or lacks the maternal allele for UBE3A contributions, it results in Angelman Syndrome (Mary 2011). This disorder was first discovered in 1965 by an English pediatrician known as Dr. Henry Angelman. Angelman studied children with similar motor disorders, facial abnormalities and a happy demeanor. He named this disorder "Happy Puppet Syndrome" after observing a…

Angelman Syndrome Description of the Disease An extremely rare and uncommon disease known as Angelman Syndrome is a very complex neurodevelopmental and monogenic disorder (Bailus, 2014). The term neurodevelopmental refers to the shape, reshape, state and generation of the nervous system during the embryonic stages of life, while the term monogenic can be explained as a disease, which is controlled and inherited, by a single pair of genes (Gentile, 2009). It is estimated that Angelman Syndrome…

The blog I choose followed the life of a boy named Max and stories about him as seen through his mother’s eyes. Max Grant Seidman is a thirteen year old boy who is living with Cerebral palsy (Angelman syndrome). Angelman syndrome is commonly misdiagnosed as autism or cerebral palsy because of the commonalities they share. Angelman syndrome in Max’s case makes him orally and skin sensitive to some things. Max’s cerebral palsy allows him to walk, but his mouth muscles are the weakest. Due to the…

Some genetic mutations that occur during Meiosis or replication are not passed genetically to offspring. Though there are some genetic disorders that occur during replication or Meiosis that are passed onto offspring not all are. Some non-inheritable disorders are due to random events that occur in reproductive cells. An example of an event in a reproductive cell is the gain or loss of chromosome. All changes in somatic cells however are never heritable. Angelman syndrome is a genetic mutation…

Angelman Syndrome (AS) is a genetic disorder that causes speech problems, intellectual impairment, sleeping difficulties, and seizures. This condition causes a very happy, excitable personality in the patient resulting in outbursts of laughter and frequent smiles. In children, AS can also cause hyperactivity. With age, the sleeping problems and excitable behavior subside. Curvature in the spine (scoliosis) can also be caused by Angelman Syndrome. Even with the abundant amount of disabilities…

She might have trouble communicating with others or controlling her behavior. Currently, there is no known cure. Some individuals with the disorder engage in behavioral therapy to help their everyday life, but there is no set treatment for Angelman syndrome. However, Annie will be able to enjoy a normal life span even with the disorder.” Angela's anxiety seemed to gradually dissipate with my last sentence. “Okay, it could be worse. This is much better than a death sentence” Joseph replied,…

disabilities, what sickle cell does in children with neurodevelopment disorders, and what psychiatric disorders and down syndrome does in adolescents and young adults. This paper will only contain abstracts of my own doings for each journal I have obtained for this study. I will not be going into depth with every single disorder that is within a neurodevelopment disorder such as Mendelsohn’s Syndrome or…

chromosomes in the mother, 8% from the non-separation of the father and only 3% when the egg and the sperm have merged together to form one. Translocation The extra chromosome 21 may also occur due to Robertsonian translocation in around 2-4% of the cases. In this situation, the arm of chromosome 21 is attached to another chromosome. This may be a mutation passed on through the parents or it may form in the baby. If a parent has this abnormality, it is likely that he/she will be normal both…