Angelman Syndrome Research Paper

Children may face behavioural difficulties such as aggression. This could affect their speech because they may express how they feel through the aggression and not by using speech. Their speech may become poor as a result. Their language they use may not be correct and their communication maybe poor or no existent. Emotional difficulties could include going through a family breakup or grievance. The child may become withdrawn and upset. Children going through this may not want to communicate with people in turn becoming mute. This would have a negative effect on their speech. Social difficulties could include poor housing, lack of friendships and living in poverty. This would affect the child’s SLC because they may not get the socialisation

According to the US National Library of Medicine (2017), Angelman Syndrome, also known as Happy Puppet Syndrome is a “complex genetic disorder that primarily affects the nervous system.” Angelman Syndrome occurs when there is a change to the E3 Ubiquitin Protein Ligase Gene (UBE3A) located on chromosome 15.

How did you learn that Kyle has a disability? (Who was present? When did this happen?) If you were giving advice to professionals who need to explain to a parent that his/her child has a special need, what would that advice be?

angelman syndrome also known as "happy puppet syndrome", it is a genetic disorder that was named after the first doctor who discovered it in 1965. According to (medicinenet) AS affects 1 in 12,000 to 20,000 people. Usually it is not found until parents find developmental delays. The general characteristics of a person who has AS are mentally challenged, pale, deep set eyes, long chin, a puppet like gait, and an absurd laugh.

Angelman Syndrome is neurons in the brain that lack the expression of a non-functional UBE3A. UBE3A is Ubiquitin-protein ligase and E3A is an enzyme that is encoded in humans by the UBE3A gene. This enzyme includes targeting protein that declines inside cells. Angelman Syndrome is affected by problems with a gene in chromosome fifteen which is called Ubiquitin-protein ligase E3A (UBE3A). Symptoms are usually noticed during six to twelve months of age in a child. A lack of crawling or babbling, having a frequent smile, laughter, and a happy, excitable personality are early symptoms of the disease. As a person gets older they have minimal or no speech and have an inability to walk, move or balance well, which is also called ataxia. They display jerking movements, tongue thrusting, bursts of laughter and have epilepsy.

This website is very informational gearing towards different audiences. One being family support as known as family resource team. On this page, it has two 3 different professionals that have background knowledge about the syndrome. Two out of the three professionals have a master’s degree in education. Each individual has information for providing resources on who to contact if they need help planning meetings for individual education plans, and IEP goals. At the bottom of the page is a contract form for advice on finding medical professionals.

This disease is noticeable by the age of 6 to 12 months. Parental DNA pattern test is a test

According to Boston Children’s Hospital (2017) Angelman syndrome is a genetic disorder. It's usually caused by problems with a gene located on chromosome 15 called the ubiquitin protein ligase E3A (UBE3A) gene. Normally, people inherit one copy of the gene from each parent, and both copies become active in many areas in the body. Angelman syndrome occurs when only one copy of the gene is active in certain areas of the brain.

There are many diseases and syndromes that occur in the developmental stage of human development. One of the many syndromes is Angelman syndrome. When this syndrome was first discovered by Harry Angelman, it was known as “happy puppet syndrome”. This syndrome is not typically diagnosed at birth, but can also be diagnosed from the ages of one to six. This syndrome is a neuro-genetic disorder that occurs in one in 15,000 people. Because of its rareness, this syndrome is often misdiagnosed as autism or cerebral palsy. Make thesis- Angelman syndrome is caused by a defect in the UBE3A gene, has various symptoms, that can be misdiagnosed, and patients will live with lifelong treatment.

The most common characteristics of children born with FAS will have disabilities such as Growth abnormalities, Prenatal growth deficiency can be significant. It includes the following parameters of growth, weight, length and head circumference. Also Craniofacial abnormalities which is when eyes of the affected children are often small with exaggerated inner epicanthic folds, Cardiac abnormalities, and Nervous system abnormalities.

The first case to appear was in a four-year-old boy named Bertrand Might 's. With this specific condition he was born with NGLY1 deficiency causing him certain symptoms of the disease. Symptoms include but are not limited to; hollow and unfocused eyes, lack of tears, and refusing to eat. Doctors at the hospital ran multiple tests, but couldn 't come up with a diagnosis. Thanks to the 2003 Human Genome Project, which identified new genetic mutations allowing research to become easier. Geneticists often struggle to find patients who share these rare DNA sequences since doctors have not been able to find a large amount of patients with this specific disorder. When scientists looked at a person’s genes they tend to

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.

Protest or Cries When It’s Time to Go Home 11. Shrinks at the Approach of Adults 12. Frequently Absent from School or Activities 13. Lacks Needed Medical or Dental Care, Immunizations, or Glasses 14. This Consistently Dirty and Has Body Odor 15.

According to Ben-Arieh & Miller (2009) children who do not express themselves in any way, who do not understand language, lacks non-verbal communicative interactions or does not respond to his or her name when called are the most common communicative symptoms you can identify the child may have ASD. Other ways you can tell the child has ASD communicative problems are the requirement of repeating something-like a question-over and over again, when the child exercises echolalia-where he or she quickly respond with the question you asked them or when he or she recites a short clip of a movie or a conversation he heard, and when the child reverses pronouns-when he uses “you” when he actually means “me”. Children with ASD usually have a hard

The discovery of the relationship between the mutation and the disease happened when Chen et al. (2004) mapped the gene of a large Maryland family in which 49 members were affected by ALS4. They found the gene location for ALS4 in the long arm of chromosome 9 at position 34 (Chen et al., 2004 & GHR, 2016).