Analysis Of Cornelia De Lange 's Syndrome

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.

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

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.

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.

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

(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)

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

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.

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