Analysis Of Cornelia De Lange 's Syndrome

Waardenburg Syndrome is a group of genetic conditions that can lead to hearing loss and changes in the color of hair, skin, and eyes (Genetics 2013). Cases of Waardenburg Syndrome are not very common. There are different types of symptoms of the syndrome. Waardenburg Syndrome can be inherited either on an autosomal dominant pattern or autosomal recessive pattern (Calendar 2013). The ways of diagnosing Waardenburg Syndrome include certain tests to detect the disorder. While Waardenburg Syndrome cannot be cured, treatments can be given to lessen the effects. Like other diseases, Waardenburg Syndrome has certain symptoms, inheritance patterns, diagnosis and treatments.

The advanced technology today makes it possible to fetus’s potential conditions when it is born. Not everything is perfect and sometimes we find out that a baby

The quality of life of family members, as well as of patients, can be hugely reduced in terms of physical effects, psychological distress, and social problems. The family members of patients experience emotions such as worry, frustration, and stress. Parents of children with physical and mental disabilities experience social problems, and the work life of family members of NCD patients is affected. Research shows that the family members of patients can be more emotionally affected by illness than patients

Hello, Im Dr. Flores. I'm sorry but we believe that your child may be at risk to having Tay-Sachs Disease also known as GM2 gangliosidosis. She does not roll over like most babies, a little weak, and exaggerated responses to sudden noises, and both of you are of eastern and central European Jewish heritage which puts you at a higher risk to having Tay-Sachs. We’re gonna run a few test to confirm if your daughter has it…We’ve received the results back from the lab and i'm sorry to say but you're daughter has Tay-Sachs disease, Some of our test consisted of testing responses to sudden noises and checking for red spots at the back of the eyes. Which your child presented with as you can see in this image.Also blood tests to check if the body is producing the Hexosaminidase-A enzyme or Hex-A for short.

In 1896, Sachs gave the newly discovered disease a name: amaurotic family idiocy. Over the next decade, researchers learned more

Per (2004-2006) records and a consultative examination (CE), the claimant reported a history of retinopathy of prematurity that caused right eye blindness since birth and a cataract in the right eye, as well as a visual field restriction (less than 20 degrees), myopia, and poor visual acuity in the left eye that required corrective eyeglasses. She also had a history of asthma and migraine headaches.

On today’s ultrasound, a single living IUP is identified with the fetus currently in cephalic presentation with a 3-vessel cord with normal insertion into an anterior right-sided placenta. Fetal biometry today demonstrates an EFW at the 31%ile for reported gestational age. A detailed anatomic survey is without any notable structural abnormalities; however, portions of the fetal face and heart remain to be well visualized due to the fetal position. There was some concern on outside ultrasound for possible cervical shortening and due to this a transvaginal ultrasound was performed that

On ultrasound there is a live fetus in cephalic presentation. Fetal biometry is consistent with dates. A detailed anatomic survey was fairly unremarkable although slightly suboptimal due to late gestational age. There were no gross abnormalities seen. The placenta is anterior. Amniotic fluid was 8.3 cm. Umbilical artery Doppler was within normal limits.

Rett syndrome is considered one of the autism spectrum disorders. Rett syndrome is a developmental disability disorder resulting in severe mental and physical deficits in female children. Rett syndrome is grouped as a pervasive developmental disorder (PDD) in which conditions are severe and pervasive, and that begin in early life and influence multiple areas of development. 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

This causes delays that, to me, are similar to Down’s syndrome. Mild to severe delays can be present with this diagnosis. The OTR at my site explained that with any chromosomal defect, the delays that occur will depend on the chromosome that is affected. Just like Down’s syndrome has its own characteristics, this defect has its own characteristics too. The child that I get to treat with this diagnosis is non-verbal, she is very low tone and also has some visual and hearing impairments. She also demonstrates sensory integrations problems. She is a very pleasant eight year old and for the most part is very willing to work. It is difficult to work with a child that is non-verbal. I feel like a mind reader some days! I really have to watch her expressions to figure out if she can or wants to do something. Some of the activities I try to do, she does not want to do. I do not give her a choice; she at least has to try. When she is finished, she plops to the ground and lays down! She plants herself like she is modeling in a photo

A child is not their disease, neither is their family. However, it is often difficult for them to disconnect their self from the detrimental effects of it. In spite of the fact that the majority of the American population appears quite healthy, over 32 million children are currently suffering from a chronic illness. According to njhealth.org, chronic illness is “an illness that may last throughout a person’s life, although the frequency and severity of symptoms can change.” Nearly 43% of American children are currently afflicted with at least 1 of many chronic ailments ranging from diabetes to cancer. Many of these children may never return to their precedent state of well-being; physically, emotionally, socially, and psychologically. During such horrific times as these it is important to remember that the children are not the only ones suffering; their family is as well.

“From my Friend” is a great story about a young girl and her life from grade school all the way to college. This young girl happens to have a syndrome known as Rett syndrome. I chose this piece over, “An A is an A,” because I found the syndrome more interesting to learn about. While doing some research on Rett syndrome I discovered a lot of things that I never knew at all about the syndrome. Rett syndrome is a rare, but severe brain disorder that affects girls. It is usually discovered in the first two years of life. There is no cure, but early detection and treatment can help the victims and families with coping with this syndrome. The symptoms that come along with Rett syndrome are loss of muscle tone, loss of any purposeful use of hands,

Being diagnosed with a chronic illness as a child completely changes the anticipated trajectory of their life, as well as their family’s life. The child who is diagnosed has to learn how to cope with the symptoms of the disease, as well as how to cope with the psychological effects that accompany the illness. Additionally, the roles of each member of the family change. Once a

This review article covers establishment of comprehensive healthcare programs for patients with SCD from birth to adulthood, to improve their quality and expectancy of life.

•Encourage family involvement with treatment. More likely to be successful in treatment with a support system.