The article is titled “Communication Modality Sampling for a Toddler with Angelman Syndrome” by Jolene Hyppa Martin, Joe Reichle, Adele Dimian, and Mo Chen. The authors explored three modes of communication, vocal, gestural, and graphic, with a young child with Angelman syndrome. The researchers investigated which mode of communication would be the most effective and efficient for the child.
Angelman syndrome can cause cognitive, communication, and physical disabilities. It is a disorder that affects around 1 in 10,000 births and for the majority of the cases, the cause is genetic. Angelman syndrome can be caused by an abnormality in chromosome 15. Previous research on Angelman syndrome and the different communication modes is lacking.
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This symbol is taught in gestural, graphic, and vocal mode. The modality sampling has many advantages, one of the most important being that it provides important intervention resources.
The main purpose of this study was to compare the efficacy of graphic and gestural modes of communication with a toddler with Angelman syndrome (Martin, Reichle, Dimian, & Chen, 2013). The participant was Adam, a 21-month-old male with Angelman syndrome. Before the study started, Adam was assessed in communication, cognition, and fine and gross motor skills. Adam did not engage in vocal imitation or turn taking. His mother reported that Adam would sometimes vocalize to get her attention, he would also protest, request, and express excitement. Adam’s fine motor skills were delayed, but he had adequate movements to produce gestures for the study.
Before the sessions started, the three researchers went through a role-play training. This was done to increase reliability and interobserver agreement between the researchers. The 44 sessions occurred at the participant’s house or at his day care center. The first session was a baseline probe and the rest of the sessions were divided into five phases. The sessions were held two times per week for five months. The materials for the study included three objects or activities that Adam liked or
This essay will explore the nature of the therapeutic process; using my fifty minute long real play session with one of my colleagues. Also, I will explore my experience of the therapeutic relationship and how it influences therapeutic change and increase the affectivity of the therapy.
Angelman syndrome is thought to be caused mainly by the deletion of the maternally inherited copy of UEB3A. A small number of cases are also caused by failures in imprinting or, very rarely, monosomy 15 in the egg and disomy 15 in the sperm. The profound mental effects are caused by this gene due to the fact that, while UEB3A’s protein is active in various bodily tissues, only the mother’s copy of the gene is active in the brain.
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
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.
Currently, a cure for Cri Du Chat syndrome has not been found by today's scientists. A variety of treatment options involving educational and behavioral therapy can help people suffering from Cri Du Chat, if the therapy is implemented early in life. Some of the most impactful symptoms of Cri Du Chat on a person’s life are the complications with communication (Kristoffersen 2009). These communication difficulties can be counteracted by placing children with Cri Du Chat in speech therapy and also teaching them sign language to increase their ability to connect with others.
Angelman Syndrome is a rare and uncommon brain disorder that occurs once in about every 15,000 births. This primarily affects the nervous system. Many symptoms occur because of the loss of the function of a gene called UBE3
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
From the age of fifteen months through nineteen months Dominic’s physical, social, language and cognitive development has matured. Although Dominic’s physical development has matured, he is below the norms in fine motor development when he makes towers or puts together puzzles; His fine motor skills although match the norms (My Virtual Child). Socially, Dominic gets along with children well although he began to show separation anxiety around eighteen months. Along with the separation anxiety, he is securely attached to both parents yet he is less clingy and is interested in exploring (My Virtual Child). Dominic’s communication skills and language comprehension and production are typically developing. He uses the word me a lot and knows over 50 words which he puts into sentences such as “doggie outside” (My Virtual Child).
play in childcare tend to focus primarily on the relationship between mother and child. Analysis
Angelman syndrome is a genetic disorder that primarily affects the nervous system. AS is the loss of the normal maternal contribution to a region of chromosome 15, mostly commonly by deletion of a segment of that chromosome. Characteristics cause problems such as developmental disabilities and neurological problems, such
The characteristics typical of Angelman syndrome derive from the "loss of function of a gene called UBE3A" which is derived from the mother (Stรถppler 2012). "People normally inherit one copy of the UBE3A gene from each parent" and both are activated in most of the body (Angelman syndrome, 2011, Genetics Home Reference). However, "in certain areas of the brain...only the copy inherited from a person's mother (the maternal copy) is active...If the maternal copy of the UBE3A gene is lost because of a chromosomal change or a gene mutation, a person will
In 1965, Dr. Harry Angelman, an English physician stumbled upon an unidentified condition that was characterized by no speech, severe developmental delay, an overall happy demeanor, and a marionette-like gait. Although other researchers doubted the existence of such a condition, what was once deemed the “Happy Puppet Syndrome” soon gained worldwide notoriety as Angelman’s Syndrome. Later in 1997, a gene was discovered within the AS deletion region called UBE3A which accounted for approximately 5 percent of individuals with this disorder. Despite claims that individuals with Angelman Syndrome develop little or no auditory speech, this paper will clearly outline the development of communication in these individuals, supporting hypothesis that
In the selected case study, The mode of therapeutic intervention will take the Gestalt Play Therapy focus. The interaction between Jacob and I will be an open dialogue with straightforward caring, warmth, acceptance, and self-responsibility that specifically focuses on inclusion, with me fully present in the experience of Jacob, where I will not judge, analyze, or interpret what is observed. My presence refers to expressing observations, preferences, feelings, personal experience, and thoughts to Jacob. Commitment to dialogue will present the opportunity to encourage a sense of connection between Jacob and me. Our dialogue will be active and nonverbal or verbal. It can be any modality that expresses and moves
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 following paper will examine the role-play intake interview that was posted on YouTube as a learning tool by Dr. Todd L. Grande. The information from this interview is gathered by observing the videos and class discussion, which is then written in a psychosocial assessment of the client. The assessment includes current concerns, family history, and next steps/goals for the client.