Imagine sitting in a soundproof, glass box in the middle of a room full of people. You are uncomfortable, thirsty or hungry and lonely. Think about how frustrated you are when nobody hears, or acknowledges. You scream your requests louder, but no one in the room hears you. Now imagine that instead of a glass box, it is your own body that you are trapped in. Imagine waking up everyday to find that you cannot get out of bed or brush your teeth without assistance, and dressing yourself every morning is a daily challenge. Imagine never being able to live independently and having to rely on someone to help you every day. This scarcely brushes the surface of how to describe the disorder that is Rett Syndrome.
Symptoms
Rett Syndrome is
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Along with a loss of speaking abilities, the child has a lessened ability to express feelings. A lag in brain and head growth is often seen in a child with Rett Syndrome. A child with Rett Syndrome does not crawl, rather bottom scoots without the use of their hands. Sometimes a significant delay in walking abilities is seen in a child with Rett Syndrome, sometimes they may lose the skill, some may not walk until late childhood or adolescence, and some never have the ability to walk independently. Children with Rett Syndrome experience seizures and scoliosis, both ranging from nonexistent to severe.
History
A Viennese physician named Andreas Rett first discovered Rett Syndrome in 1954, when he noticed two girls making the same repetitive hand-writhing motions as they sat in his waiting room (Turkington, Anan 2006). After this discovery, Rett located six other girls among his patients with similar symptoms. At the same time, a Swedish physician, Bengt Hagberg began to notice similar symptoms in his own patients. In 1966, Dr. Rett published his discovery in several German medical journals, and then translated the findings into English in 1977. Though Andreas Rett first diagnosed Rett Syndrome in 1954, yet the specific genetic problem was not discovered until 1999. In an article published in 1983, called Annals of Neurology, Dr. Hagberg
So, the big question is how do people get autism? Some say autism is caused by a person’s genetic make-up. Still others blame the environment for the causes of autism. The big fight is to try to blame mandated immunizations for the rising number of children with autism spectrum disorder. According to Offit “immunizations have no connection with children who may have autism. According to a study published in England where only 12 children who had
Autism is a form of neurodevelopment disorder in the autism spectrum disorders. It is characterized by impaired development in social interactions and communication, both verbal and non-verbal. There is an observed lack of spontaneous acts of communication; both receptive and expressed, as well as speech impairments. A person diagnosed with Autism will also show a limited range of activities and interests, as well as forming and maintain peer relationships. The individuals will display limited interests, which are often very focused and repetitive. He or she is likely to be very routine oriented and may show behavioral symptoms such as hyperactivity, impulsivity, aggressiveness, and self-injurious behaviors.
“Autism is a neuropsychiatric disorder characterized by severe and sustained impairment in social interaction, deviance in communication, and patterns of behavior and interests that are restricted,
Autism is a developmental disability that affects all areas of behavior and perception. Approximately 10 out of every 10,000 children are diagnosed with autism and four out of five are males. Autism is the third most common developmental disability, more common than Down Syndrome. Children with Autism are characterized by impairment in several areas of development such as: Cognitive, Language, Play/Socialization skills and exhibit many challenging behaviors. Behavior Patterns of Autism:
Children affected by Tay Sachs disease are born seemingly normal and develop like any other child in the first three to six months of life. Throughout the next month, and sometimes even years, the baby will progressively lose the ability to see, hear, and move. The child will develop a cherry-colored red spot in the back of the eye and they lose or never even gain important motor and mental skills. The child will stop smiling, crawling, sitting, turning over, and reaching for things. By
They will be delayed in their physical development due to difficulties with the lower brain which is responsible for balance and co-ordination. They may also have a difference in muscle tone and find it difficult to gauge how much to grip an object. This delay in physical development will have an impact on the child’s social and emotional development also as they may not get as much chance to play and interact with other children in their peer group.
Not only is a child incapable of doing things they could before, they may even have some physical changes. Some physical changes could be physical paralysis, loss of the control of the bowel or bladder, sleep disorders, sleep deprivation, stamina loss, and appetite changes (TBI Symptoms).
Tay Sachs is a disease in the nervous system. It mainly occurs in infancy, and the infant can appear normal until ages 3-6 months when their muscles for movement weaken and development slows down. Affected infants with Tay Sachs disease loose motor skills such as sitting, crawling, and turning over, and in some cases develop an extreme startle reaction to loud noises. As this vigorous disease advances, children distressed can experience paralysis, intellectual disability, seizures, hearing and vision loss, and an eye abnormality called a "cherry-red spot." Most children afflicted usually only live into early stages of childhood.
Retinitis pigmentosa is a group of inheritable diseases that is characterized by gradual deterioration of the photoreceptors in the retina. The photoreceptor cells in the retina, rod cells, are light sensitive cells that are able to sense low levels of light. The frequency of retinitis pigmentosa is one in four thousand births (Deng et al., 2015; Fahim et al., 2012; Haddad et al., 2016; Shu et al., 2012) People affected by retinitis pigmentosa will typically exhibit symptoms of night-blindness first, and this will precede a loss in the patient’s visual acuity field that starts from the outer edge and gradually moves inward resulting in a much smaller visual field and loss of peripheral vision, also known as tunnel vision (Haddad et al., 2016).
Autistic infants often show little or no interest in other people and lack typical social behaviors. For example, they may not smile at their mother's voice or make eye contact with caregivers. Autistic children fail to develop normal relationships with their parents, brothers or sisters, and other children. Often they seem unaware of the needs and feelings of other people, and may not respond if another person is hurt or in distress. They also fail to make friends.
Rett syndrome, including the age of onset and the severity of symptoms, varies from child to child. Before the symptoms begin, however, the child generally appears to grow and develop normally, although there are often subtle abnormalities even in early infancy, such as loss of muscle tone (hypotonia), difficulty feeding, and jerkiness in limb movements. Then, gradually, mental and physical symptoms appear. As the syndrome progresses, the child loses purposeful use of her hands and the ability to speak (Rett Syndrome, 2010). Other early symptoms may include problems crawling or walking and diminished eye contact (Rett Syndrome, 2010). The onset of a period of regression is sometimes sudden. Apraxia — the inability to perform motor functions — is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze
They have issues with transitions because they have inflexible adherence to schedules. Lastly, they have repetitive motor mannerism such as rocking back and forth, spinning in circles, clumsiness, and walking on tiptoes. Levels of severity are determined by how persistent the behaviors are and how much these behaviors disrupt everyday functioning (Durand, 2014). There are three levels of severity that either requires support, substantial support, or very substantial support. These specifiers of severity will assist in an accurate diagnosis since similar criteria are involved in other disorders such as social (pragmatic) communication Disorder (American Psychiatric Association, 2013). Social communication disorder is apart of a serious of diagnoses that can have similar symptoms with ASD (mostly with regards to communication) but do not completely meet the requirements for ASD. Another example of these differential diagnoses is Rett syndrome that occurs only in females. Females with Rett syndrome might regress but can over time have improved social communication skills.
The human brain is utterly baffling. A small organ weighing merely three pounds as an adult has the ability to control and shape a human’s life. Without it there would be nothing. There are so many different functions… and with that there are so many things that can go horribly wrong. It is amazing the capacities and that it possesses and we do not even realize it. That is why studying neurology and working on the treatment of neurological disorders is so critically important. Through the examination of Huntington’s disease, Bell’s Palsy, and Aphasia, neurologists can work to better the human mind and cure the diseases that attack it, which will infinitely enhance the lives of humans and create a brighter future for us all.
scoliosis, cataracts , scars, overweight, Chrohn diseasChromosome Patterns The normal female has 46 chromosomes, of
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