Prader-Willi Syndrome Literature Review

Waardenburg Syndrome is a group of genetic conditions that can lead to hearing loss and changes in the color of hair, skin, and eyes (Genetics 2013). Cases of Waardenburg Syndrome are not very common. There are different types of symptoms of the syndrome. Waardenburg Syndrome can be inherited either on an autosomal dominant pattern or autosomal recessive pattern (Calendar 2013). The ways of diagnosing Waardenburg Syndrome include certain tests to detect the disorder. While Waardenburg Syndrome cannot be cured, treatments can be given to lessen the effects. Like other diseases, Waardenburg Syndrome has certain symptoms, inheritance patterns, diagnosis and treatments.

When it comes to neurocognitive disorders and neurodevelopmental disorders, reaserchers have been able to diagnose symptoms of a variety of disorders pertaining to the brain and growth development. Once knowing what the symptoms are behaviors become noticed and there becomes a reason for certain behaviors in individuals allowing different treatments for these disorders..

Research is continually being conducted everyday with this common disorder. Many parents main concerns is the use of medication to treat their child. Many doctors nowadays show the parents the current research of studies being done and their effectiveness as well as providing papers for families for their willingness to participate in ongoing studies to better help understand their childs disorder and the best way to treat it ( Görtz-dorten, Breuer, Hautmann, Rothenberger, Döpfner, 2011).

Prader-Willi and Angelman Syndrome are two genetic disorders with vastly differing phenotypes linked by missing genetic imprints on the 15th chromosome’s q arm between regions 11 and 13 . While both orders result in mental deficits, their symptoms are otherwise segregated from the other in their entirety. The differences in the disorders are the result of differing DNA methylation patterns present in maternally and paternally inherited DNA. If the deletion occurs in the mother’s DNA, then Prader-Willi Syndrome appears. When the deletion occurs in the father’s DNA, Angelman Syndrome is the result.

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.

Williams Syndrome(WS) is considered as a neurodevelopmental disorder, caused by a contiguous gene deletion of about 26 genes from the long arm of chromosome 7(Peoples et al., 2000). Since it had been first aware by J.C.P. Williams in 1961(Lenhoff, Wang, Greenberg & Bellugi, 1997), Williams Syndrome has drawn more attention in last 40 years. the incidence rate is approximately 1 in 2000 and diagnosed generally at 6.4 years old (Morris, Demsey, Leonard, Dilts & Blackburn, 1988). People with WS usually show a developmental delay at the early age and are affected all life long. Williams Syndrome is characterised by some abnormalities in physical, behavioural, and cognitive.

Chapter 1 focuses on autism, Pervasive Developmental Disorders (PDDs) and other Autistic Spectrum Disorders (ASDs). Described in 1943 by Dr. Leo Kanner, autism (also known as autistic disorder, childhood autism, or infantile disorder) is one of the PDDs along with Rett's disorder, Childhood Disintegrative Disorder (CDD) referred to as Heller's syndrome, Asperger disorder, and Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS). Rett's is a rare genetic abnormality affecting brain development in girls. There are treatments available, but there is no known cure. Asperger disorder affects an individual's ability to socialize and communicate effectively. Individuals with Asperger disorder may be socially awkward and have a compulsive

Never had an idea was what Prader Willie Syndrome and how serious is this condition. You can actually observed two individual that are diagnose with PWS but are two totally different individuals. At the beginning of the documentary you can observe that Joe was struggling being away from home and had too much anger, and Tamara have gone through a lot in her life and not having her mom support has being very hard. The program in general is a good program, which it promote healthy eating and it that aspect it has help Joe and Tamara loose the weight, but there are things that I am not in accordance with the program, if this individual have a hard time with romance relationship I don’t think they should be encourage to date. I was surprised when

Autism spectrum disorder is an umbrella term used in diagnosing a collection of developmental disorders of the brain that vary in severity1. People with ASD may have trouble with social interactions, problems with different types of communication, may practice repetitive actions or behaviors1,2, struggle with paying attention, and suffer from motor disfunctions1. ASD is usually diagnosed in children between the ages of 2 and 3, this early diagnosis is very beneficial because it leads to intervention which intern leads to more positive outcomes later in life1. ASD affects 1 in every 68 American children1 and is 4-5 times more common in boys than girls1. Prevalence of this disease is on the rise, with a 10-17% increases in cases per-year1, which could be due to improved diagnostic methods, environmental factors, and other reasons that are unknown1. One well established diagnostic tool is the Childhood Autism Rating Scale (CARS) which is 15-point rating scale3 used to diagnose children with ASD and determine its severity2. Another less accredited, but still informative diagnostic tool is the Autism Treatment Evaluation Checklist (ATEC)2 which differs from the CARS because it is a parent rater form of measurment2. ASD has no cure, but there have been studies that show behavioral outbursts can be reduced with the use of certain movements and breathing techniques4. This encourages confidence that more aspects of ASD can be improved with similar methods.

Conclusively, this paper touches on current avenues of treatment and intervention while suggesting alternative approaches to combatting this affliction.

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.

"What is autism" is an article I found on the Autism Speaks website, an organization founded in Feb 2005 by Rob and Suzanne Right, the grandparents of an autist individuals. This website is dedicated to advancing research into causes and better treatments option for individual on the autism spectrum disorder. In this article, they cover many different treatments and support options for those on the spectrum. Autism Speaks stated that the autism spectrum disorder affects everyone differently and that treatment should be based on their challenges and strengths. Autism Speaks identified behavioral therapy

Prader - Willi Syndrome is caused by the deletion or not getting Chromosome 15 from the dad. This disorder

Replacement of sex hormones during puberty may result in development of adequate secondary sex characteristics e.g. breasts, pubic hair and a deeper voice.

The child selected for the ecological inventory and task analysis, is a nine year old female student diagnosed with Phelan-McDermid Syndrome (PMS), or 22q13 Deletion Syndrome. PMS is a genetic disorder caused by the deletion of chromosome 22 or mutation of the SHANK3 gene. According to the website, “Phelan-McDermid Syndrome Foundation”, “the most common characteristics found in those with PMS are intellectual disability of varying degrees, delayed or absent speech, symptoms of autism spectrum disorder, low muscle tone, motor delays, and epilepsy”, (Phelan-McDermid Syndrome Foundation, 2016, p. 1). The student was diagnosed with Phelan-McDermid Syndrome when she was three years old.