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Case study for angelman syndrome
Pseudo-angelman syndrome
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Angelman Syndrome is a genetic disorder that affects the nervous system. Angelman Syndrome, also known as AS, affects behavioral, cognitive, and developmental functions of children, but most symptoms are not seen till later in the child’s life (Williams et al.). In 1965, Harry Angelman, a British physician, studied 3 children with similar conditions. He noted many parallel features in these children. The original term for Angelman Syndrome was “Happy Puppet”, but in 1982 the term Happy Puppet became viewed as a demoralizing and was concluded that the conditions should be called Angelman Syndrome (Williams & Frias, 1982). It was first thought that Angelman Syndrome was nearly identical to Prader-Willi Syndrome (PWS), but as technology advanced researchers discovered that AS was a deletion of chromosome fifteen on the maternally derived chromosome and PWS was a deletion on the paternally derived chromosome fifteen (Knoll et al., 1990). Specifically, AS is a deletion or complication in the 15q11.2–15q13 region of the chromosome (Encyclopedia & Disorders, 2008). Many effects can be noted behaviorally with Angelman Syndrome. Children with AS display a cheerful appearance as a result this behavioral aspect allows for an informal name, “Happy Puppet Syndrome.” Harry Angelman reported that his patients were easily provoked to long outbursts of laughter (1965). Concurring with the original report, laughter is sometimes considered excessive and inappropriate (Clayton-Smith & Laan, 2003). A fairly recent study resulted in a disagreeing conclusion that suggests that the laughter isn’t inappropriate, but is provoked in social situations and certain environments. The results proved when the patient was alone there were almost no convulsions o... ... middle of paper ... ...J., Knoll, J. H., Kyllerman, M., Laan, L. A., … Schinzel, A. A. (2006). Angelman Syndrome 2005 : Updated Consensus for Diagnostic Criteria, 418, 413–418. doi:10.1002/ajmg.a Williams, C. A., & Frias, J. L. (1982). The Angelman (“happy puppet”) syndrome. American journal of medical genetics, 11(4), 453–60. doi:10.1002/ajmg.1320110411 Didden, R., & Sigafoos, J. (2008). Behavioural flexibility in individuals with Angelman syndrome, Down syndrome, non‐specific intellectual disability and Autism spectrum disorder. … Intellectual Disability …, 52(Pt 6), 503–9. doi:10.1111/j.1365-2788.2008.01055.x Williams, C. A., Angelman, H., Clayton-Smith, J., Driscoll, D. J., Hendrickson, J. E., Knoll, J., Magenis, R., Schinzel, A., Wagstaff, J., Whidden, E. M. & Zori, R. T. (1995). Angelman Syndrome: Consensus for Diagnostic Criteria. American Journal of Medical Genetics, 56, 237-238.
Twin studies have been used to distinguish between genetic and environmental factors for many disorders in the general population including ectodermal dysplasia, Ellis-van Creveld, and anencephaly. This review focuses on genetic disorders affecting monozygotic, dizygotic, and conjoined twins to gain a better understanding of them. Many studies focus on twins because they have a nearly identical genome, which eliminates environmental factors. In case studies, the concordance rates in monozygotic twins have supported that certain disorders were caused by genetics and not the environment. The discordant values in twins will also be evaluated briefly. Twinning studies have also shown linkages between specific disorders and the genes responsible for them. Knowing the location of these genes allows patients to be treated quickly and efficiently. This paper will discuss the possible causes of twinning and the various methods of identifying abnormalities in twins. These methods also allow preventive measures against the rise of birth defects during prenatal development. Epigenetics in twins is also viewed through the perspective of effects on them. Treatments for genetic disorders in twins are reviewed, ranging from the restoration of malformed teeth to the separation of conjoined twins. Support groups for twins in treatment, and their families are also briefly reviewed.
The disease Angelman Syndrome, named after the physician Harry Angelman, was first diagnosed in 1965. It is now known that the disease results from the loss of function of UBE3A, a gene. One is normally inherited from each parent. The copy inherited from the mother is active in certain areas of the brain. If this copy of the gene UBE3A is lost due to chromosomal change or gene mutation, the lost gene will not have active copies in parts of the brain. A majority (70%) of Angelman syndrome cases happen when a segment of the maternal chromosome 15 is lost or destroyed. A minority of the disease is caused by a mutation or loss of function of the mother’s copy of the UBE3A gene. The majority of cases result from uniparental disomy, which is when the son or daughter inherits two copies of chromosome 15 from his or her father. Translocation, or chromosomal rearrangement, can also cause the disease. Most cases of this disease are not inherited, instead are a result of deletion in the maternal chromosome 15. Across 1. 2 copies of chromosome 15 are inherited from the father Down 1 Person who first diagnosed this disease 2 Disease the magazine is about 3 A gene 4 a minority of this disease is caused by this 5 Chromosomal rearrangement DISEASE BACKGROUND PAGE 1
GeneticaLens - What is Angelman Syndrome? The History of the Diagnosis - Dr. Harry Angelman. (n.d.). Retrieved March 20, 2014, from http://www.angelmanproject.com/history.htm
In the 1940’s two doctors in different countries observed children displaying similar behaviors and deficits. One of the doctors was Viennese pediatrician Dr. Hans Asperger and the other was a child psychiatrist named Leo Kanner. Dr. Kanner was the first of the two doctors to report his observations. What he described were behaviors similar to those seen in children with what we call Autistic disorder. The behaviors affected the children’s communication, social interaction and interests. Dr. Asperger later published an article discussing what he dubbed “Autistische Psychpathen im Kindesalter” which translates to “Autistic Psychopathy”. Although some behaviors overlapped, there were differences leading to the belief that these doctors were documenting two different disorders. The two most prevalent were the differences in motor and language abilities (Miller, Ozonoff). Another was Asperger’s belief that his patients were of normal or above average intelligence. It was not until 1994 that Asperger Syndrome was entered into the Diagnostics and Statistics Manual of Mental Disorders Fourth Edition (DSM IV), finally becoming an official diagnosis. At the time, Asperger Syndrome (AS) was labeled as a subcategory of autism along with autistic disorder, childhood disintegrative disorder and pervasive development disorder. Since then, the community of people with Asperger Syndrome has grown to love and better understand the disorder that they live with every day. Some of them have even affectionately named themselves “Aspies”.
Where does the name Asperger's Syndrome come from? Over fifty years ago, a Viennese pediatrician,...
Cardiofaciocutaneous syndrome is a very rare and serious genetic disorder that generally affects the heart, facial features, and skin of an individual. It is caused by a desultory gene mutation, which takes place in one of four genes. Those genes are known as BRAF, MEK1, MEK2, and KRAS. From research, it is also suspected there is a possibility that other genes are associated with the rare condition. This disorder holds multiple alternative names, a long history, obvious symptoms, extensive amounts of interesting data, and is lucky enough to be supported by numerous organizations that will stop at nothing to help.
Prader-Willi Syndrome is rare with only 1 in 20,000 people born with the mutation. Normally offspring inherit one copy of chromosome 15 from their mother and another from their father, however in patients diagnosed with Prader-Willi Syndrome some of the genes on chromosome 15 are missing. The mutation is caused by lack of active genetic material in the region of chromosome 15 that affects Prader-Willi Syndrome (15q11- q13). There are three possible mutations to cause this inactivity. The most common cause is the deletion of the part of chromosome 15 that is inherited from the father, occurring in 70% of cases. In 25% of cases uniparental disomy (UPD) occurs and two copies of the chromosome are received from the father and none from the mother. 5% of patients diagnosed with Prader-Willi syndrome have an ‘imprinting mutation’. This is a form of translocation and means that the sequences of the genes on chromosome 15 are altered.
Angelman Syndrome is a neuro-genetic disorder, brought upon the body through the mutilation or deletion of the maternal 15th chromosome. The prevalence of this disorder is still constantly debated because of the common symptoms it shares with other disorders, making it difficult to recognize and differentiate. More specific studies of behavior are needed to increase the range of knowledge on such a complex disorder. In 2007 Dr. Weeber relieved a mouse model of many symptoms of Angelman Syndrome. Studies of this disease are crucial for finding the cure. Even though this is a difficult challenge, there are signs of hope to cure this disease for humans.
“Williams Syndrome.” Genetics Home Reference. National Library of Medicine, Mar. 2008. Web. 11 Feb. 2014. .
In 1965, Dr. Harry Angelman, an English physician, first described three children with characteristics now known as the Angelman syndrome. Angelman syndrome is a neuro-genetic disorder that is usually diagnosed at a very young age, and it happens within 1 in every 15,000 births. Angelman syndrome have symptoms that can be easily mistaken with cerebral palsy or autism. Symptoms of the disorder include developmental delay, lack of speech, seizures, walking and balance disorders, sleep disturbances, hyperactivity, and frequent laughter or smiling. If a baby or child is diagnosed with Angelman syndrome they will require life-long care due to the fact that there is no cure. Due to having similarities with autism and cerebral palsy, Angelman syndrome is often misdiagnosed. Misdiagnoses are a prevalent problem today which can also lead to late diagnoses as well. When this happens, the lost time may cause inflicted individuals to lose opportunities for early intervention programs, life-altering treatments, resources, and customized personal support.
Autism is a neurodevelopmental disorder that effects the brains development. It is characterized by affecting communication, cognition and social interaction. The spectrum of the disorders ranges from a mild condition called Asperger’s syndrome to a more severe form, which severely impairer’s development. The Office of Communications and Public Liaison states that the disorder affects one and eighty-eight children, however ASD effects boys more frequently than girls (Office of Communications and Public Liaison, 2013). ASD emerges in all age, ethnic and socioeconomic groups. The significant varied character and severity of the disorder is why ASD is considered a spectrum that poses a broad range of symptoms.
Dr. Hans Asperger was the first to describe Asperger’s Syndrome, also known as AS, in 1944. He explained that AS causes clumsiness, poor motor skills, and an inability to walk or run smoothly (Miyahara, Tsujii, ...
Adamson, L., Bakerman, R., Deckner, D. & Romskey, M.(2008). Joint Engagement and the Emergence of Language in Children with Autism and Down Syndrome.
Autism is a disability that interferes with the normal development of the human brain in the areas of reasoning, social interaction and communication skills, typically appearing during the child's first three years (“What is Autism?”, the Autism pages 2004, from the Autism society of America). It occurs in roughly 15 to 20 of every 10,000 births and is five times more common in males than in females (“Autism: What to look for”, pamphlet by the Autism Society of the Phils.). Although recent advances have been made with respect to possible roots, the exact cause of this condition remains unknown. Children and adults with autism typicall...