Analysis Of Cornelia De Lange 's Syndrome

Around the year 1897 Edward Morel noticed something that would change the way the modern world viewed the colonization of Africa and the supposed “humanitarian” work there forever (Hochschild 1). Morel worked for an English shipping company that was responsible for cargo going between the Congo Free State and Belgium. What Morel noticed was that ships from Africa were filled with rich, exotic goods like rubber and ivory, but the ships headed to Africa from Belgium were filled with military members and various firearms and ammunition (Hochschild 2). Morel made the conclusion that the cause of this odd “trade” between Europe and Africa was slave labor. European colonization of Africa was a slow, arduous process resulting in the deaths of

Thank you for the opportunity to participate in the care of Ms. Stansberry, who as you know is a 15yo female, G1 P0, currently at 26 weeks 0 days EGA with a pregnancy complicated by late establishment of PNC and maternal obesity.

Comparison Essay The books being compared are El Deafo by Cece Bell, and Ghosts by Raina Telgemeier. The theme for these books are overcoming obstacles. The obstacles that the book El Deafo overcomes is Cece learning to love her hearing aids.

Catarina’s scan was overall reassuring Measurements were consistent with dates. I explained to her that amniotic

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.

Within a year of the examination, two of the three children died. A few years later, one of the children’s parents brought a newly born sibling with the same symptoms to Tay’s clinic; leading Tay to believe whatever the disorder was, quite possibly was hereditary (Cowan 133).

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.

As you get further into your pregnancy, put your health and your child's health first. If and problems occur please let me know

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

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

There are three distinctive characteristics that people with cri-du-chat syndrome exhibits. The first distinction is during birth; babies who are born with the syndrome have “a distinct high pitch monochromatic cry,” that resembled a crying cat. The cat-liked cries usually fade away within their second year of life. Additionally, they have low birth weight. The second is a clinical distinctions which varies from patients to patients, however, the physical appearance of the person may have a rounded face structure, eyes wide apart, malocclusion, and microcephaly (small head). Another example is the palm of their hands; the line on the palm goes straight across the entire palm. The third characteristic of the syndrome deals with intellectual disability and it ranges in degree (Pituch, 2010). According to Kristoffersen (a professor in Linguistics and Scandinavian studies) tested 26 children and their IQ test ranged from 40 to 57. Kristoffersen also reported children with cri-du-chat have behavior complications for instance, “hyperactivity, stereotyped aggressive and self injurious behaviors.” Speech and language development are also impaired with individual of cri-du-chat syndrome.

(Beattie, 2002) An individual’s rate of progress through the stages varies, and symptoms are unique to the person, making it difficult for families to know what to anticipate, but if they are properly educated it may help them be aware of the different course of the disease, potential causes of behaviors, interventions and various treatment that may be used, making the outcome of care be more effective for the family and the patient. (Osborn&Vaughn, 2010)

                 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

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

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