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Recommended: Rett syndrome
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 syndrome was officially known and named after Begnt Hagberg noticed very similar cases to those described in Dr.Rett’s article. Rett syndrome is a debilitating neurological disorder that predominantly affects females. Rett syndrome primarily affects areas of expressive language and hand use..Itis a disorder exclusively in girls. This syndrome is caused by a single gene mutation that leads to the underproduction of an important brain protein, MECP2 (methyl CpG binding protein 2).“Rett syndrome causes problems in brain …show more content…
Smaller than normal head size is usually the first sign that a child has Rett syndrome. It generally starts to become apparent after 6 months of age. Loss of normal movement and coordination is another major symptom of Rett syndrome. The most notable loss of movement skills usually starts between 12 and 18 months of age. The first signs include a decrease of hand control and a decreasing ability to crawl or walk normally. As the disease progresses, children with Rett syndrome typically develop their own particular hand pattern including, hand wringing, squeezing, clapping, tapping or rubbing. Breathing problems include breath-holding, abnormally rapid breathing, and powerful exhalation of air. Scoliosis is a common symptom of Rett syndrome that develops usually after the age of 8. Symptoms and signs vary from person to person but they are all
The head is unable to grow normally, which can lead to a misshapen skull, widely spaced eyes, and a bulging forehead. At birth, the bones of the skull are not joined together; they close up as the child grows. In Jackson-Weiss syndrome, the skull bones join together too early. This is called "craniosynostosis." Foot abnormalities are the most consistent characteristic, as not all individuals with Jackson-Weiss syndrome have abnormal skull or facial features. The big toes are enlarged and bend away from the other toes. They have very different ways off forming in the feet including the big toes are short and wide, the big toes also bend away from other toes, and the bones of some toes may be fused together which they call “syndactyly” or abnormally
As a child growning up, a lot of you may have had these certain condition. I think these the the normal conditions of a child in general. All children may not experience these certain condition at the same time in life, but I am sure nearly all ch...
Sarkar, P. K., & Shinton, R. A. (2001). Hutchinson-guilford progeria syndrome. Postgraduate Medical Journal, 77(907), 312-7. Retrieved from http://search.proquest.com/docview/206274391?accountid=1599
ALD has many different symptoms; some of the symptoms can be triggered as early as two years or as late as twelve but, the normal symptoms start between the ages of 4 to 10 and can include change in muscle tone, crossed eyes, decreased understanding of verbal communication, detoration of hand writing, difficulty at school, difficulty understanding spoken material, hearing loss, hyperactivity, progressive nervous system detoration, coma, decreased fine motor skills, seizures, and visual impairment or blindness(Lohr, DR. John T). If you recognize or detect any of these symptoms in your child you should immediately take them...
Retinitis pigmentosa is a genetic disorder that causes blindness in the people that are affected by it. I chose retinitis pigmentosa because my grandmother has this genetic disorder. The disorder is very costly on those who have it. The disorder has robbed my grandmother of the life she wanted. She is no longer able to do the things she once was. She is legally blind, cannot drive, and has trouble getting around crowded areas. Retinitis pigmentosa was discovered by Doctor Donders in 1857. Retinitis pigmentosa is a very serious disorder in how it occurs, its signs and symptoms, its prevalence, and how its treated.
So what are the stages of the disorder, there is stage one which is called early onset. This begins at 6 to 18 months, is normally overlooked by doctors because the symptoms are not that noticeable just the slowing of development. Infants show less eye contact and less interest in their toys. There will be delays in their motor skills and crawling, hand writing, decrease in head growth. Th...
It is noteworthy to mention that there are numerous diseases associated with rapid ageing and progeria like symptoms. Cockayne, Lison, Werner’s, and Wiedemann-Rautenstrauch Syndromes are amongst these diseases. The shortened term progeria can be used to address any of these disorders but is most often specifically associated with HGPS. This distinct disease was named after Jonathan Hutchinson and Hastings Gilford who each independently described it in 1886 and 1897 respectively. Thankfully, this alarming syndrome is so rare that it only affects about 1 in every 4 million children born.
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 loses communication skills and purposeful use of her hands. Soon, the known physical handicaps became visible such as washing hands, difficulty walking, and head growth abnormalities, the head will grow slower than it supposed to. More symptoms that may be brought on by the syndrome can include seizures and rapid and/or slow breathing repetitions while the child is not sleep. In the younger years of childlife, there may be a time of separation or withdrawal when she is irritable and cries inconsolably. With time, motor skill problems may increase, but in generally, the irritability the child endures lessens and eye contact and communication improve (International Rett Syndrome Foundation, 2014). According to rettsyndrome.org, Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different spots. It strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births (Rett Syndrome Foundation, 2014). It is not a degenerative disorder, saying that this syndrome does not cause the body or the mind of the infected child to become weaker. It also causes problems in brai...
Because autism symptoms vary in degrees and severity, autism is considered a spectrum disorder; each individual falls somewhere within the spectrum depending on their specific symptoms. Though autism affects a small percentage of children, the number of those affected is on the rise. There are different types of autism including Asperger’s, a mild form of autism in which the individual affected becomes obsessive over interests, and Rett syndrome which affects mostly females and is marked by the loss of communication skills. Asperger’s is on the higher
Despite its 50 year-old diagnosis, autism is still one of the mostly commonly contracted and rarely treated childhood diseases. Studies suggest that as many as 1 in 500 children may display autistic symptoms. Manifestations of this disability include the stereotypical physical contortions and hand-flapping motions commonly associated with autism, as well as inability to relate to the outside world, limited social skills, lack of concentration, and hypersensitivity to certain stimuli-particularly noise (1). Perceived causes include poor fetal development, genetics, allergies, and a lack of crucial enzymes. Because for many years the disorder was thought to be a result of poor parenting, only recent studies have begun any attempts to identify the causes of childhood autism. Many diagnosis and potential treatments have been tried only by the parents of autistics; undergoing research is still slow and often under-funded.
De grouchy syndrome, de grouchy syndrome is a rare diesis that takes place normally in the 18q cell. 18q is a chromosomal condition that happens when a piece of a long arm witch is described as - (q) is missing from the 18 cell. Some symptoms that occur with de grouchy syndrome are your ears, your mouth shape, and your sexual develop meant. De grouchy can affect more things like having a higher chance of sezers and autistic behavior.
Do you know there is a medically diagnosed disorder that affects over two American children?” Experts on the subject say there are many more undiscovered cases out there and the cause is still unknown. It sounds like we have a really big problem. The thing is, the disorder that affects all these children, isn’t a disorder at all.
There is no known single cause of autism. Researchers are investigating a number of possible theories including genetics, heredity, medical problems, problems during pregnancy or delivery, as well as environmental influences. It is widely accepted that it is caused by abnormalities in the brain structure or function. There is evidence from neuropathological studies that autism has its origins in abnormal brain development early in prenatal life which continues postnatally, showing acceleration in brain growth measured by head circumference (Zwaigenbaum, L., Bryson, S., Rogers, T., Roberts, W., Brian, J., & Szatmari, P., 2005). The disorder also seems to have a genetic basis, although researchers have yet to find the specific genes that link to the onset of autism. There could be a cluster of genes that have somehow interfered with normal brain development and function. Studies show that twins of children with autism were more likely to be autistic themselves than the regular population, demonstrating there is a heredity lin...
Autism is characterized as a developmental disorder that is seen in children by the age of three years old. Autism affects the brains normal, natural development, and causes many impairments. The major impairments that affect an individual are reciprocal socialization, Qualitative impairment in communication, and repetitive or unusual behavior. Signs of Autism can be seen in early infanthood, with proper awareness and resources. An infant child can appear to be adverse to eye contact early on. Some signs in early infancy appear as being indifferent to affection and physical contact. When spoken to, they can appear to be deaf or ignoring the parent or caregiver. Noticing the early red flags of Autism can provide an early intervention and give the child the best chance at learning to tolerate their environment. Children around three years old will display certain signs and symptoms.
Rubinstein-Taybi Syndrome (RTS) is a rare condition characterized by, “distinctive facial features, broad and often angulated thumbs and great toes, short stature, and moderate to severe intellectual disability” (Stevens 2002). The syndrome was first described by Jack Herbert Rubinstein and Hooshang Taybi in the American Journal of Diseases of Children. In their initial article describing their findings, Rubinstein and Taybi described seven children, ages three to eight years old, who presented with “a constellation of congenital anomalies,” which they believed to represent a previously undescribed syndrome (Rubinstein and Taybi 1963). Other features associated with RTS, which tend to vary among affected individuals, include eye abnormalities, defects of the heart and kidneys, dental problems, and obesity (“Genetics Home Reference” 2007). While individuals with RTS often develop normally in-utero, they sometimes fail to thrive in the first few months of life as their height, weight, and head circumference percentiles begin rapidly declining (Stevens 2002). Another serious complication for infants with RBS is