Jonathan Juste 4/21/14 Hum. Bio Analysis of Angelman Syndrome 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
Discover y Saad Ahmad, Vihas Gowreddy, Taaha Kamal Angelman Syndrome Project Mrs. Salinas By Table of Contents Page 1: Disease Background Page 2: Symptoms Page 3: Treatments Page 4: Current Research Page 5: Answers 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
Angelman Syndrome (AS) is a neurodevelopmental disorder, which is caused by mutations or deletions of the UBE3A gene inherited from the maternal allele. This gene encodes the protein E3 ubiquitin ligase. UBE3A is expressed biallelically in majority of tissues but in most neurons the maternal allele is solely expressed. In 1965 Dr. Harry Angelman an English pediatrician first described Angelman syndrome. At the time of discovery Dr. Angelman named the disorder “happy puppet syndrome” this was due
Angelman Syndrome is a rare genetic disorder characterized by neurological and developmental issues. Dr. Harry Angelman discovered the syndrome in 1965. It was formerly called “Happy Puppet Syndrome” due to the clinical features possessed by those affected. Dr. Angelman observed those affected as appearing normal upon birth but eventually showing signs of development disabilities. Angelman Syndrome mainly targets the nervous system and can be detected in infants as early as six months. Typically
Angelman Syndrome: Angels on Earth Angelman syndrome (AS), first described by Dr. Harry Angelman in 1965 is a neuro-genetic disorder that arises in one of 15,000 live births in the nation. This syndrome most commonly presents developmental delays, minimal speech, and the inability to walk; these are very common symptoms of many other more frequently diagnosed disorders. It is often misdiagnosed as cerebral palsy or autism due to the similar characteristics it possesses and its lack of identification
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
Angelman disease was discovered and named by Dr. Harry Angleman in England in 1965. He was observing several children that had the same symptoms that include unusual happiness, no speech, seizure disorders, mental delay, and similar facial expressions. Dr. Angelman described these patients as “happy puppets” or “angles” because of their always happy facial expressions and youthful look. After diagnosing these children as puppet children, he then went on to write a paper about his discoveries
Shaken Baby Syndrome Imagine yourself as a sweet, innocent, precious little baby. You are totally dependant upon adults to give you what you need and most importantly love. Your only means of communication is crying so you cry when you need to be fed, when you need your diaper changed, when you aren’t feeling so well, or when you just want some attention. You are crying and someone comes over to you. They pick you up, but instead of holding you and comforting you, talking affectionately to you,
Treatment for Raynaud’s - 2 - Introduction Raynaud syndrome is an auto-immune disorder in which blood vessels in the digits constrict. It usually strikes females between the ages of eighteen and thirty. “Between three to five percent of people are affected.” (Harvard, 2003) There is no known cause or cure. (Segala et al, 2003) Clinical features primarily deal with (but are not limited to) the digits of the fingers. Other digits that may be affected include toes, nose, and ear lobes. Exposure to cold
to be a large factor. Non genetic factors (i.e. maternal infection, prematurity or postnatal infection) may cause 40-50% of the remaining hearing loss. About one-third of children with hereditary deafness have features that are part of a genetic syndrome and there are between 300-400 different forms of genetic deafness that are known. Most children benefit from a genetic evaluation as a dominant diagnostic tool in determining the exact cause of the deafness, and the role of the audiologist is pivitol
Progeria, otherwise known as Hutchinson-Gilford syndrome is an extremely rare, genetic childhood disorder with a reported incidence of about one in a million. Hutchinson reported the syndrome in 1886 when he found the first patient with Progeria. In 1904 Gilford described a second case of Progeria, thus creating the term to reflect the syndrome’s senile features. There are only about a hundred reported cases since the disorder has been discovered over a century ago. Currently, there are about thirty
Locked-In Syndrome and PVS: Implications for Brain = Behavior During our first few class sessions, I became very intrigued by the brain = behavior idea and the I-function. I kept searching for what I thought to be an easy way to approach these complicated issues. We discussed extensively the example of Christopher Reeve, as someone with an intact I-function, but who has lost a certain element of connectedness between total I-function control and his actual body. I became very interested in how
Battered Women's Syndrome: A Survey of Contemporary Theories Domestic Violence In 1991, Governor William Weld modified parole regulations and permitted women to seek commutation if they could present evidence indicating they suffered from battered women's syndrome. A short while later, the Governor, citing spousal abuse as his impetus, released seven women convicted of killing their husbands, and the Great and General Court of Massachusetts enacted Mass. Gen. L. ch. 233, 23E (1993), which
ETHNOGRAPHY ASSIGNMENT Prader-Willi syndrome (PWS) is a distinct condition characterized by neurological impairments causing an altered pattern of growth and development with associated hyperphagia i.e. Over-eating. It is a genetic disorder in which seven genes on chromosome 15 are either deleted or unexpressed on the paternal chromosome. There are three known causes for Prader-Willi syndrome; a) Imprinting mutation b) UDP (Uniparental Disomy) c) Deletion.
The disorder that is called Cri du Chat Syndrome has known many names. These include, but are not limited to, CdCS, Crying Cat Syndrome, 5p-, 5p minus, amd 5p Deletion Syndrome. It can also be called Monosomy 5p and Lejeune Syndrome. The people that have this disorder show many symptoms, the most recognizable being an underdeveloped larynx, which results in infants producing a high-pitched cry which often sounds like, of all things, a cat. The French name is taken from this symptom; the term Cri
Frontal Lobe Syndrome Although volumetrically the frontal lobes are the largest portion of the brain their function remains somewhat elusive (Jacobs, 2005). Even neuropsychologists have a difficult time creating test that accurately test frontal lobe functioning. We do know however, that the frontal lobes are involved in the storage of memories, concentration, abstract thought, judgment, and self control. The frontal lobe lies directly behind our forehead (NINDS, 2005) It contains the
Lesch Nyhan Syndrome Lesch Nyhan Syndrome (LNS) was first reported in 1964 by Michael Lesch and William L. Nyhan. It is a rare disorder located on the x chromosome. It is a sex-linked trait, which means that it is passed from mother to son. This condition can be inherited or occur spontaneously as a result of a genetic mutation. It usually appears once in every 100,000 male births. Since the defective gene is recessive, females almost never exhibit symptoms of the disease. However, they can be carriers
Carly Thompson Prader-Willi Syndrome HSES 473: Clinical Fitness Evaluation Techniques Carly Thompson 4-29-2015 Abstract Prader-Willi syndrome (PWS) is a rare and complex genetic disorder that typically causes low muscle tone, short stature, emotional and sexual immaturity, cognitive disabilities, behavioral issues, and chronic feeling of hunger. Due to its complexity, there are some areas of research that have not been thoroughly explored with this disorder. General PWS and background information
What are the symptoms? • Symptoms of Cri-du-chat include a high-pitched cry, small head size, widely-spaced eyes, weak muscle tone, low birth weight, and mental retardation. People who was this disease have a difficult time learning verbal skills. They use short sentences and basic words to express themselves. Other symptoms include delays in walking, scoliosis, and hyperactivity. The symptom of a high-pitched cry normally disappears at age two. What is Cri-du-chat? What causes it? • Cri-du-chat
An Overview of the Rare Disease Known as Kabuki Syndrome As I look to graduate, I become increasingly aware that I have my entire life to look forward to. Even though I will have struggles throughout my life, I still have my well being to fall back on. When all else fails, I am and hopefully always will be self-assured that I am here, healthy and able to bring myself through the worst of circumstances. This realization and knowledge has presented itself in the most realistic way just within