...Rett Syndrome Joseph Lee 4th Period Rett Syndrome is a disorder which affects the nervous system and is found almost exclusively in girls. One in 10,000-20,000 newborn babies are born with Rett Syndrome, making this disorder very rare. Rett Syndrome is often described as autism, cerebral palsy, Parkinson’s, epilepsy, and various anxiety disorders wrapped into one. In this paper, I will discuss what exactly Rett Syndrome is, who discovered it, how he discovered it, what its causes are, what the symptoms are, the disorder’s course, and possible treatments for the disorder. Said Dr. Rett at a conference regarding the disorder which bears his name: These three words summarize best our task: To live, to love, and to learn. We are aware of the fact that many mysteries of this syndrome still remain undisclosed, and therefore, for the time being, we have no option but to live with it. However, the children with their very special ways give us enough impulse to share their lives. It is a further mystery of this syndrome that the affected children render it easy for us to love them. A dominating factor in the care of such children is that they understand us and we understand them. Their appearance and the sparkle in their eyes make it easy to love them. Daily care for them and working with them gives us grownups strength, enabling us to learn the special treatment required, thus furthering our own development. To...
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...RETT Syndrome RETT Syndrome is a progressive neurodevelopmental disorder that occurs almost exclusively in females. RETT Syndrome is “caused by mutations on the X chromosome on a gene called MECP2” (What is). According to the Mayo Clinic, this mutation results in problems with a protein that is critical for brain development. RETT Syndrome is a spectrum disorder, which as Neul explains, means that its severity is “determined by the location, type, and severity of the MECP2 mutation and the process of random X-inactivation.” The incidence in females is “1 of every 10,000 births” (What is). Since RETT is caused by a mutation on the X chromosome and males only have one X chromosome as opposed to the two X chromosomes females possess, many males...
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...Rett Syndrome is a neurological development that is very rare in mainly young females. It is a non-inheriting genetic postnatal disorder. Since this is a very rare condition that it comes with many things that affect the child. Rett Syndrome can affect the child by not having the ability to speak accurately, to walk, eat, and not being able to breathe easily. This syndrome was first recognized and named after Dr. Andreas Rett. His discovery of the disorder was through a child that had the syndrome, he noted that the child was developed normally with the first 18 months of birth. He first defined it in 1966 in Germany, where he will find his first 22 patients. They thought the syndrome had slowed down a bit but that all changed in 1983. Chains...
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...Rett Syndrome Rett Syndrome first discovered by Dr Andreas Rett, a pediatrician in Vienna, Austria in 1954. He first noticed two girls in his waiting room with their mothers where he observed them making repetive ‘hand-washing’ motions. He later compared with his clinical and development histories and discovered there were more girls with similar symptoms. In 1966 Dr Rett published his findings in several German medical journals which at the time it was well known to that part of the world however it remained in the backwaters of medical concern to the rest of the world even after he has published the disease in English in 1977 due to lack of electronic informations were rarely available. A break through in 1983 as an artical on Rett syndrome appeared in the mainstream of english journal finally raised the profile of Rett Syndrome and put it on the radar screen of many more investigators-this finally a break through and recognised this syndrome, it was therefore named after the doctor whom first discovered and named Rett syndrome. Rett syndrome often misdiagnosed with autism, it is a unique developmental disorder that is first recognized in infancy and almost exclusively in females although it can occur rarely in boys. It is found in all racial and ethnic groups throughout the world. It occurs worldwide in 1 of every 10,000 to 23,000 females births. Rett syndrome is not a degenerative disorder, but rather is a neurodevelopmental disorder. Barring illness or complications...
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...What is Rett syndrome? Rett syndrome—a disease that features the symptoms of autism, cerebral palsy, Parkinson’s disease, epilepsy and anxiety disorders—is a lifelong neurological disorder. It’s diagnosed almost exclusively in girls, leaving them unable to speak, walk, or use their hands. Most will experience breathing problems, feeding tubes, seizures, anxiety, and gastrointestinal and orthopedic issues across their lifetimes. And at present, there is no cure. How common is it? The Rett Syndrome Research Trust (RSRT) reports 15,000 girls and women living in the U.S. with Rett Syndrome. Globally, that number balloons to 350,000, making Rett syndrome the second most common cause of severe intellectual disability in girls after Down syndrome....
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...Texas Author Tells Students to Persevere Christine Warren, author of the 2011 book Paddlefish, told a group of students at Baylor University “You can keep pushing on, you will get there.” Warren’s speech focused on her experiences during the Texas Water Safari, a 260 mile paddle race. The author first decided to compete in the race after a book publisher recommended she participate in it and write about her experience. Warren agreed. She decided to dedicate her race to the International Rett Syndrome Foundation. Warren began training for the race 14 months in advance. She said many people helped mentor her through the process. Including Melissa Jory, an Olympic trainer from Colorado, and Banning Collins, her friend and a fishing guide. Just three days before the race was planned a flash flood ripped through the area. The race was postponed for a month. Banning Collins, her partner for the race, told Warren he could not do the race anymore. She was devastated, “I stayed in bed for 24 hours.” The author soon picked herself up. She put an ad on the Texas Water Safari discussion board and after a few days she found a new partner. Phil Meyer, an engineer who Warren said, had been kicked off his previous team due to personality issues. The two trained together until the day of the race. Warren and Meyer finished the race 39 out of 66 finishers. “I knew I was going to finish,” Warren told the students. She stated she didn’t know why but she always envisioned herself finishing...
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...leaves not much time for learning because the toileting, hygiene, and eating do take a big part of the day. The teachers usually have a full time assistant in the classroom or two depending on the need in the classroom; this helps the Special Education teacher complete tasks in the classroom. The teacher can work on a student one on one and the assistant can help with the other students needs. (Severe Intellectual Disabilities and Multiple Diablites, 2007) Some of the intellectual disabilities that teachers may encounter I have found are ADHD (Attention Deficit hyperactivity Disorder), Angel man syndrome, Aspersers Syndrome, Autism, Cri Du Char, Down Syndrome, Dysphasia, Dyspraxia, Epilepsy, Fragile X, Klinefelter Syndrome, Pervasive Developmental Disorder, Prader-willi Syndrome, Rett Syndrome, Trismoy, Soto’s Syndrome, Tourette Syndrome, Tuberous Sclerosis, and Williams Syndrome. (Activ, 2001) References Activ (2001) Types of Intellectual Disabilities. Retrieved on July 13, 2001 from http://www.activ.asn.au/3/3017/8/types_of_intellectual_disability.pm Severe Intellectual Disabilities and Multiple Disabilities. Pat Mimms. Retrieved from Special Education for Today’s Teachers: An Introduction, by Michael S. Rosenberg, D avid L. Westling, and James M cLeskey....
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... There are different types of trauma acute which is a single event that lasts for a limited time, chronic which is multiple events over a longer period of time and complex which begins at a young age cause by adult’s negligence. In Hebrews chapter 11 and 1 says now faith is the substance of things hope for and evidence of things not seen. In some cultures they believe that faith is their medicine to help them alleviate some of their traumatic events. Developmental delay refers to a child not achieving developmental milestone at the normal age range. There are five developmental delays, gross motor, fine motor, language, cognitive and social. Genetic plays a factors in some developmental delays such as Down syndrome, Fragile X syndrome, rett syndrome, and muscular dystrophy. These multiple delays influence physical, and social developments. An example of a delay could be if the child was born prematurely, or if the mother had an infections like chlamydia and passed it to the baby during birth. If a mother experience any trauma during pregnancy or during birth like being exposed to drugs and alcohol. Unhealthy home environments where children are exposed to unsanitary conditions, poverty or malnutrition are observable factors that can lead to growth delays. Feldman (2014) Reference: (n.d.). Retrieved April 12, 2015, from http://study.com/academy/lesson/what-is-a-developmental-delay-in-children-definition-causes-symptoms.html Feldman, R. S. (2014). Development...
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...ST. PAUL’S UNIVERSITY DEPT: COURSE: UNIT CODE: UNIT NAME: REG. NO: FULL NAMES: LECTURER: SUBMISSION DATE: Introduction It is right to say that autism is a disability and wrong to say that it is a mental disorder. However much people may think that autism appears to be a mental disorder, it is not. Autism occurs when there is a problem in the central nervous system. Autism is only a mental deficiency. Some autism victims clearly communicate and interact with the rest of the community while others need a lifetime of specialist support. It is a spectrum condition which means that while all people with autism share certain difficulties, their condition affect them in different ways. Autism victims experience over- or under-sensitivity to sounds, touch, tastes, smells, light or colors. People with autism are more likely than the general population to have accompanying problems such as dyslexia (difficulty with reading, spelling and/or writing), dyspraxia (severe difficulty with tasks requiring fine motor skills such as drawing or writing) and digestive problems. They are also vulnerable to developing mental health problems such as depression and anxiety. Causes of Autism Autism can be caused by a variety of physical factors all of which affect brain development. The abnormal blood vessels functioning in the body causes ineffectual oxidation throughout the nervous system and this causes autism. Genetics is another cause for autism. Evidence suggests that genetic factors generate...
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...SYMPTOM CHECKER PHYSICIAN DIRECTORYSIGN IN SIGN UPSUBSCRIBE WebMD: Better information. Better health. HEALTH A-Z DRUGS & SUPPLEMENTS LIVING HEALTHY FAMILY & PREGNANCY NEWS & EXPERTS Search Common ConditionsVIEW ALL ADD/ADHD Allergies Arthritis Cancer Cold, Flu & Cough Depression Diabetes Eye Health Heart Disease Heartburn/GERD Pain Management Sexual Conditions Skin Problems Sleep Disorders Featured Topics See What Severe Psoriasis Looks Like 16 Tips to Help You Get Organized Feeling Your Best When You Have MS Symptom CheckerWebMD Symptom Checker Health Concern On Your Mind? See what your medical symptoms could mean, and learn about possible conditions. Get Started Resources SECOND OPINION Read expert perspectives on popular health topics COMMUNITIES Connect with people like you, and get expert guidance on living a healthy life INSURANCE GUIDE Get ready for changes to your health care coverage PHYSICIAN DIRECTORY Find a doctor in your area Pain Coach WebMD Pain Coach AppTrack your pain levels, triggers, and treatments. Set goals and get tips with our app. Download Find Information About: Drugs & Supplements Get information and reviews on prescription drugs, over-the-counter medications, vitamins, and supplements. Search by name or medical condition. Find or Review a Drug Find or Review a Vitamin or Supplement Check for Drug Interactions Drugs Basics & Safety Commonly Abused Drugs What's Your Medication...
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...Cri du chat, also known as “Cat’s Cry” syndrome or 5p- (5 p minus) syndrome occurs when there is a deletion in chromosome 5 (Genetics Home Reference). According to the Genetics Home Reference website, most cases of Cri du Chat are not inherited. The deletion occurs randomly during production of reproductive cells or in early development. People with Cri du Chat most often have no familial history of the disease. Only about ten percent of the cases of Cri du Chat are inherited from unaffected parents. Most of the time in this situation, the parent’s chromosome is rearranged. The material is not gained or lost, but is located on different parts of the chromosome. So, when the material is moved to create gametes or chromosomes in a developing...
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...Prader-Willi Syndrome is a genetic disorder that affects chromosome number fifteen. Some of the common signs of this syndrome are obesity, eyes with narrower shape, small hands, feet and stature. Often the muscle tone is decreased and as a consequence motor development is delayed. Individuals affected usually have mild learning disabilities and only a small portion have average or above average IQs. Their long term memory is stronger and efficient than their short term memory. Most students with Prader-Willi Syndrome have difficulty working with numbers and calculations. They usually perform better when working with reading, writing, drawing, and when working with technology. Behavior issues are directly associated with the syndrome as well...
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...Cat eye syndrome is a genetic condition , a way to describe it is to say that it is an abnormality in chromosome 22. It can lead to a coloboma of the iris witch is how it got its name . The eyes look cat-like but work the same as a normal human . Cat eye syndrome or “Schmid Fraccaro syndrome” is a rare condition caused by the short arm and a small section of the long arm of human chromosome 22 being present three (trisomic) or four times (tetrasomic) instead of the usual two times. The name “cat eye syndrome” is derived from a distinctive eye (ocular) abnormality that is present in a little over half affected individuals. Most cases of eye cat syndrome are not hereditary , the condition generally occurs even during the formation of...
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...Edward's Syndrome Edward's Syndrome, also known as Trisomy 18 Syndrome, was discovered in 1960 by Dr. John Edward. It is a very rare inherited genetic disorder that is likely in one out of every five thousand births. Children with the syndrome have an extra chromosome 18, causing the child to have many malformations and mental retardation. Nineteen out of twenty of the children with the Edward's Syndrome die before their first birthday. There are three types of the Trisomy 18 Syndrome. The first one is most common it's called Full Trisomy 18. In this case a full extra chromosome is present in each cell. This type is not hereditary. The second type is very rare, it's called Partial Trisomy 18. This type of the syndrome can be hereditary. It occurs when only part of the extra chromosome is present in each cell. The third type is Mosaic Trisomy 18 this is also very rare. The extra part if the chromosome is only present in some of the cells, not all. The defects of Edward's Syndrome can target the brain, heart, craniofacial structures, kidneys and stomach. The children that make it thorough birth appear fragile and weak, many are underweight and have micrognathia. Many of the surviving children have these problems because of the malformed extra chromosome, just one little chromosome can really make or break someone's life. The syndrome can be diagnosis by taking a blood sample from the fetus to look at the chromosome line up. Edward's Syndrome can also be diagnosed by a few other test...
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...Doctors have been left baffled after a Chinese pensioner woke from a two-week coma speaking perfect English - but not a word of her native language. Liu Jieyu, 94, had been unconscious for a fortnight after suffering a stroke, which doctors had feared she may not recover from. When she finally awoke, the retired teacher asked in perfect English: 'Where am I? What is happening?' Surprised doctors were left even more confused when it became clear Ms Jieyu - who used to teach English - had lost all ability to speak her native Chinese. An English-speaking doctor was brought in to talk to the pensioner, who confirmed she was speaking the language perfectly - although a little slowly. Her shocked family say while Ms Jieyu had taught English previously, she had not spoken the language in more than 30 years. They say said she had stopped using English after retiring to live with her family on the outskirts of the city of Changsha, in southern China's Hunan province. RELATED ARTICLES Medic Tao Hou, 45, said: 'I can't ever remember having a case like this before but we anticipate with proper rehabilitation and rest she should regain the ability to speak Chinese. 'We assume that the area dealing with her ability to speak Chinese has been damaged, but brain cells to have an ability to repair themselves to a certain extent we would hope to see at least some improvement.' Ms Jieyu was admitted to hospital after suffering a type of stroke called a cerebral infarction, where the blood...
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