Rett Syndrome is a neurological and developmental disorder that affects the nervous system. It occurs almost exclusively in females, but in rare cases it affects males. It is actually the leading cause of severe impairment, mental retardation and developmental regression in girls. Rett syndrome is grouped as a pervasive developmental disorder (PDD) in which conditions are severe and pervasive, and that begins in early life and influences multiple areas of development. It is a developmental disorder
Rett syndrome is a particular neurological disorder that is first found in the first few months of life and typically almost always diagnosed in girls, but can be seen in boys, rarely, but it is possible (International Rett Syndrome Foundation, 2014). Rett syndrome symptoms soon appear after an early period of regular or near regular development until six to eighteen months of life, when there is a slowing down or stopping of skills. A period of backsliding then follows when the young female child
Rett syndrome is a neurological disorder that mainly affects females. According to “The Molecular Pathology of Rett syndrome: Synopsis and Update”, it states that the disorder starts to be recognizable when the child is between six to eighteen months of age. The affected child will loose their ability to speak and hand movements. Through research, MECP2 is in the X chromosome gene (2006). An estimate of females that suffer from Rett syndrome is 1 in 1,000 and in the United States, it is approximately
Rett Syndrome The paper that I’m writing is on Rett Syndrome. Rett is a rare and severe ‘girls only” form of autism. What is Rett you ask? Well it is neurodevelopment that is found in girls. If you are diagnosed with it they can feel overwhelmed, there is no cure for this disease. You are normally diagnosed with it in the early years (first 2 years of life). There are 4 stages of Rett 1 being the least dramatic case and 4 being the severe. The disorder was identified by Dr. Andreas Rett in 1966,
Rett syndrome was discovered after a pediatrician in Vienna, Austria, Dr. Andreas Rett, in 1966. The recognition of this syndrome began when Dr. Rett saw two girls sitting in the waiting room of his office demonstrating similar hand-wringing movements. After forward investigation, he was able to find other patients in his practice with characteristics similar to those of the two little girls. He then published a study describing the syndrome but it had very little attention. In the early 1980’s,Rett
Rett syndrome is a postnatal neurodevelopmental disorder that mainly affects girls but is rarely found in boys as well. Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 female births. It was first identified by Dr. Andreas Rett, an Austrian physician who described it in an article published in 1966. Even though Rett described the disorder in his 1966 article it went another 17 years until being generally recognized after Swedish researcher Dr. Bengt Hagberg
Isaac Thomas Rett Syndrome Rett syndrome is a progressive neurological disorder that affects almost exclusively in females. The most basic symptoms include decreased speech, cognitive disabilities, severe lack of muscle control, small head size, and unusual hand movements. A woman with a mutation in her MECP2 gene, has a 50% risk with any pregnancy to pass on her X chromosome with the mutation. It is not common for women with Rett syndrome to have children because the severity of the disorder. The
Edelson, Vaughn. (2012). Genetic alliance: should i consider genetic testing for my child?. : Global Communications, Inc.. Steventon, Jessica. (2009). A silent angel's story. : Global Communications, Inc. Tarquinio, D. C., & Percy, A. K. (2011). Rett syndrome. In E. Hollander, A. Kolevzon, J. T. Coyle (Eds.) , Textbook of autism spectrum disorders (pp. 107-115). Arlington, VA US: American Psychiatric Publishing, Inc.
Under Tan syndrome: is it reverse evolution or mental illness? This is what I hope to discover and explore through this paper. Uner Tan Syndrome is a rare disease where people walk on all fours. They walk with quadrupedal locomotion, commonly referred to as wrist walking. “ It is a condition that in its most extreme form is characterized by cerebellar hypoplasia.” (Shapiro LJ 2014, p.1). Humans with Uner Tan Syndrome show lack of cognitive ability, mental retardation, loss of balance, primitive
development” (Tsai, 1998). In the 1994 edition of the Diagnostic Statistic Manuel version IV, three new categories were introduced under Pervasive Developmental Disorders. These include: Childhood Disintegrative Disorder, Asperger's Disorder, and Rett's Syndrome (Volkmar, 2005). All these disorders occur in early childhood and are often not noticed by a parent or primary caregiver until it is noticed that the child is not achieving normal developmental milestones. Childhood Disintegrative Disorder is a severe
include autism, Rett disorder, and childhood disintegrative disorder, which all have to be ruled out in order to get a diagnosis of Asperger disorder. You also have to rule out schizophrenia, Schizoid personality in childhood, and Schizotypal personality disorder. First, you have to rule out autism. Autism has the same characteristics in the DSM in regards to “abnormal social interaction and behavior as Asperger’s, but requires additional impairments in communication” (Fitzgerald & Corvin, 2001
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
described the cases of children to be afflicted with a syndrome. He noted that these kids had language delays, inability to use language for communication and a desire for aloneness (Holaday, 2012). Kanner referred to the condition as Kanner’s syndrome, later known as Early Infantile Autism. In 1943, Hans Asperger conducted research describing individuals with social and emotional limitations, he referred the condition as Asperger’s syndrome. Both Kanner and Asperger has symptoms that were similar
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
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
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.