Angelman Syndrome and Prader-Willi Syndrome Essay

This syndrome's characteristics of the disorder include developmental delays such as lack of speech, seizures, and delay in walking and balance. In the article Genetic Home Reference, it says “Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements.”. This means that people with Angelman Syndrome will tend to be happy most of the time. In the online article NORD about Angelman syndrome, it said how “ Additional symptoms may occur including seizures.”. Unfortunately Angelman syndrome is not curable. Eventually, people with Angelman will need life long care because of all the disabilities that are caused. People with Angelman Syndrome are sometimes referred to as "angels", both because of the syndrome's name and because of their youthful, happy appearance. Taking care of someone with Angelman syndrome is very tiring because it's like taking care of a baby forever. Many may ask themselves why it is even worth putting in the effort because eventually they are not going to be anything in

This syndrome is tested at birth with fluorescent in situ hybridization or FISH. With blood samples, they test the blood for the deletion of chromosome 7. FISH checks if many as of 22-26 genes are deleted. Because there is no cure for this syndrome, you will most likely have physical therapy and early education to help early development symptoms like speech delays and heart problems. This syndrome is not caused by environmental factors, it is completely genetic and NOT the parents fault.

Edward's Syndrome is from a trisomoy of chromosome 18. It can affect one in every 10,000 new borns and causes many problems from almost every organ system. Some infants with the syndrome will survive less than a year.

If doctors test people for Usher syndrome they will use visual field tests, retinal exams, hearing exams, and electronystagmeogram (EMG). If diagnosed with Usher syndrome, the best thing to do is get on educational programs to help teach sign language. People that have

Five other gene disorder that contributes to autism are (1) "EN2 (Engrailed 2) involved in cerebellum development. (2) GABR (Gamma Amino Butyric Acid Receptor) regulates brain cell migration. (3) OXTR (Oxytocin Receptor) participating in the response to stress and social skills. (4) RELN (Reelin) involved in neuronal migration in the developing brain. (5) SLC6A4, a serotonin transporter gene” (Johnson, Giarelli, Lewis, & Rice, 2013). As a result of all the researches done several chromosomal loci have been shown to be linked to Autistic Spectrum disorder including those at 2q24-2q31, 7q22-7q31, 7q34-7q36, and 17q11-17q21. Structural chromosomal changes involving deletions and duplication at 7q11, 15q11-15q13, 17p11.2, 22q11.2, and 22q13 have also been associated with forms of autism. However, the most common chromosomal abnormalities currently associated with autism include the fragile X mutation, other sex chromosome abnormalities, and abnormalities of 15q11-q13. “Evidence has shown that duplications of 15q11–q13 have led to higher risks of Autism Spectrum Disorder and developmental and cognitive deficits” (Flashner, Russo, Boileau, Leong, & Gallicano, 2013). Chromosome 15q11-q13.1 region is subject to genomic imprinting, which is an epigenetic process that results in monoallelic gene expression. Duplications lead to autism and are usually maternal in origin. Deletion of the maternal allele of chromosome 15q11-q13 cause Angelman syndrome (AS) a neurodevelopmental disorder

Angelman Syndrome: Angelman system is caused by genetics inherited from the mother. A person’s body and appearance is all decided by a component within a person’s

A permanent change in a gene that can be passed on to children. The rare, early-onset familial

In the article Autism Society, Studies shown that autism caused by having a surplus of synapses, connections between brain cells. The surplus slowdown in the normal pruning process that occurs during childhood and adolescence brain development. In many families, there are patterns of autism or related disabilities that have a genetic basis. Children who have autism may have inherited, although researchers don’t know the direct cause of autism, they’re still investigating many numbers of theories, including the links among heredity, genetics and medical problems.

Angelman Syndrome was first discovered by Harry Angelman, a Physician in 1965, when he witnessed three young children who represented similar symptoms. They all had bright, happy personalities, along with stiff movements, lack of speech and seizures. While in Italy for the holidays, Harry Angelman visited a museum that showed a picture of a puppet that had the same physical appearances as his patients. He diagnosed his patients with Happy Puppet Syndrome, which would later be known as Angelman Syndrome. In 1987, Ellen Magenis, who is also a physician, identified children who seemed to have Prader-Willi Syndrome, a similar genetic disorder to Angelman Syndrome. The difference between Angelman Syndrome and Prader-Willi Syndrome, is that Angelman Syndrome can be caused by the deletion of the maternally derived chromosome 15, while Prader-Willi Syndrome is the deletion of the paternally derived chromosome 15.

Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are both congenital neurological disorders that cause physical and mental impairment. There are many ways to get AS and PWS, but genomic imprinting is the most common cause. AS is typically misdiagnosed as Cerebral Palsy or Autism and symptoms for AS and PWS may vary between patients. There is no cure for AS or PWS, but physical and mental therapy can help.

Origination of PWS can appear in four different scenarios as described by Maas et al. (2010): “a paternal deletion (70%), a maternal uniparental disomy (mUPD) (25%), an imprinting centre defect (<5%) or an unbalanced chromosomal translocation (<1%)” (Ledbetter et al. 1981; Nicholls et al. 1989; Buiting et al. 1995; Horsthemke & Buiting 2006; Goldstone et al. 2008; Cassidy & Driscoll 2009) (p. 906). Psychiatric issues commonly known to PWS differ in significance dependent on the origin of the parental chromosome; mUPD or paternal deletion. Differences in behavioral profiles have also been suggested for the different genotypes (Sinnema et al. 2011). As cited in Dykens & Roof (2008), “Relative to persons with paternal deletions, those with UPD generally have better-developed expressive language (Roof et al., 2000; Wittington et al., 2004), but somewhat poorer visual memory and puzzle-solving skills” (Dykens, 2002; Verdine, Troseth, Hodapp, & Dykens, in press). The mUPD presents with a “heightened vulnerability for psychiatric disorders, such as atypical psychosis and affective disorders in young adulthood” (Beardsmore et al., 1998: Boer et al., 2002: Vogels, Matthijs, Legius, Devriendt, & Fryns, 2003., as cited in Sinnema et al. 2011, p. 605).

One of the cases of AS was first found in the US in the early 1980’s. The University of Florida became one of the first main research groups under the supervision of Dr. Charles Williams. In 1987, a genetic “marker” was discovered, a missing code on a tiny portion chromosome number 15. Ten years later Dr. Joseph Wagstaff and Dr. Arthur discovered the cause of this as a mutation in the UBE3A gene. Every year roughly 12,000 people get this disease

Addiction is a word that many people would associate with the body and its craving of a substance of any kind. Many individuals feel as if being dependent upon a substance is something that could be preventable and that the human body can live without. Though most substances an individual is addicted to are not needed to live a healthy life, the addiction could potentially kill that individual. Other substances such as food, one cannot live without. Food, unlike other additions, is a substance that the human body needs to survive. In recent years, there has been an upcoming epidemic regarding the obesity rate and the need for individuals to understand that lack of exercise and the increase in amount of unhealthy food is killing them. However, in some cases it may not be the lack of exercise and the unhealthy food choices alone that is keeping some individuals in a category labeled obese; conversely it could be a genetic condition keeping them that way.

Angelman syndrome was first identified by Harry Angelman in 1965. It is a genetic disorder and Angelman noted the disease as a unique 'syndrome' by the presence of "several children in his practice as having "flat heads, jerky movements, protruding tongues, and bouts of laughter" (Stรถppler 2012: 1). Symptoms usually become notable from ages 6 to 12 months and about 1 in 12,000 to 20,000 people are affected. Although children with Angelman syndrome are prone to epileptic seizures from age two onward, their life expectancy is otherwise normal. Identifiers of Angelman syndrome include cognitive and developmental delays and problems with coordination of speech and movement (Stรถppler 2012:1). Children with Angelman syndrome are also often described as hyperactive. Children appear normal at birth but often begin to have feeding problems and do not meet expected developmental milestones.

Treatment for Prader-Willi syndrome currently has no distinct, single direction so the goal of most treatments is to offer relief in a cluster of symptoms. Patients with Prader-Willi syndrome typically present some level of intellectual disability and reduced social ability. Due to the rarity of the disorder, research into treatments for Prader-Willi syndrome has been limited in the past, particularly because the sample size to test efficacy of treatments is relatively small. Recently, new treatments have been developed for people with Prader-Willi syndrome such as psychotropic medications, growth hormone treatment, oxytocin treatment, natural supplements, telehealth intervention, and cognitive behavior therapy. Many of these treatments have given positive results in the short term, but long-term studies will be needed to confirm the validity of these treatment options.