Rett’s Syndrome What is Rett syndrome? Rett’s syndrome is a neurodevelopmenal disorder that for the most part only affects women. Infants with Rett syndrome seem to grow and develop normally at first‚ but then stop developing and even lose skills and abilities. Rett’s Syndrome can be summed up by normal early growth and development followed by a slowing of development‚ loss of purposeful use of the hands‚ distinctive hand movements‚ slowed brain and head growth‚ problems with walking‚ seizures
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Central Congenital Hypoventilation Syndrome What is CCHS? Many people around the world stop breathing when they go to sleep. Why? It’s because they have a syndrome called Central Congenital Hypoventilation Syndrome or Ondine’s Curse. What is this? Congenital central hypoventilation syndrome (CCHS) is a rare syndrome‚ present from birth‚ and is defined as the failure of automatic control of breathing.. Some may only have apnea when asleep‚ but in some severe cases they may experience apnea while
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Autism and Down syndrome are two very distinctive developmental disorders that can often present challenges for individuals who are diagnosed and their families. Both conditions can impact a person’s cognitive and social abilities‚ they have unique characteristics and require different approaches to care and support. Autism‚ also known as autism spectrum disorder (ASD)‚ is a neurodevelopmental disorder that affects communication‚ behavior‚ and social interactions. Those with autism can have difficulty
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history of seizures prior and during the course of illness. She could still walk but was unable to run/climb stairs. She also has unprovoked bouts of laughter. During examination she spontaneously hyperventilated twice for about 30-40 seconds and had reflex generalized flexor myoclonus to sudden loud sound. Her eye contact and response to pain was very poor. Spontaneous walking and picking things was normal. She did not pay any attention to toys in the playroom and did not obey any command
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Bloom syndrome is a rare genetic disorder. Usually due to this disease a skin rash may occur after exposure to the sun‚ and chance of cancer is largely increased. A New York dermatologist named David Bloom discovered the syndrome‚ hence the name‚ in 1954. Since the discovery‚ there have been more than 170 case reports for this disorder just in the United States. There are a variety of symptoms for this disorder. Usually the first physical symptom of bloom syndrome is growth delay. Over 50% of children
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chromosomes involved in certain disorders such as Down Syndrome‚ Turner Syndrome‚ and Klinefelter Syndrome. An individual with Down Syndrome has an extra copy of chromosome 21 (“Chromosomal Abnormalities‚” par. 1). Only women can have Turner Syndrome which occurs when a female has only one X chromosome. Females with this disorder may have an array of developmental and medical problems; they are also sterile (“Turner Syndrome‚” par. 1). Klinefelter Syndrome‚ which occurs when a male has an extra X chromosome
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response of the hospital staff to their Down syndrome baby‚ “Instead of congratulations‚ we were told‚ “I’m so sorry.” In place of flowers and balloons‚ the hospital sent a chaplain” (para. 8). He goes on to describe the beautiful life that his daughter‚ who struggles with Down syndrome‚ lives. He also quotes Alberto Costa‚ associate professor at the University of Colorado Denver School of Medicine‚ responding to new tests that could reveal Down syndrome in unborn children‚ ‘The parent in me definitely
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affected with Down syndrome face many problems in today’s society. Whether it is unfair judgment‚ discrimination‚ or misunderstandings‚ those with Down syndrome have been subjected to cruelty. However‚ over the years‚ there has been much progress towards acceptance and equality. Many people still do not understand Down syndrome‚ which is the main source of discrimination. Perhaps with more awareness in today’s society of what Down syndrome is and what those with Down syndrome can contribute to society
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Goldratt‚ E. M. 1990. The Haystack Syndrome: Sifting Information Out of the Data Ocean. New York: North River Press. Summary by Sean Murphy Master of Business Administration Program University of South Florida‚ Spring 2003 Theory of Constraints Main Page | The Goal | What is this thing called TOC? Written in 1990‚ this book is still ahead of its time. The issue of data and information incongruence continues to be a hot-button issue in every boardroom. A "must" for every manager concerned
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My specific purpose is to inform my audience about the effects of alcohol on the fetus‚ the many effects and harms associated with Fetal Alcohol Syndrome‚ and treatment for fetal alcohol syndrome. Fetal Alcohol Syndrome l. how consuming alcohol affects a fetus A. Definition of Fetal Alcohol Syndrome 1. Use Medical encyclopedia example 2. When you drink‚ the baby drinks too‚ not well for developing organs and brain cells. B. There are no safe levels of alcohol consumption
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