Hydrocephaly

Megan Klein
THIS LOOKS LIKE A GREAT START. REMEMBER YOU HAVE UNTIL 5PM TONIGHT TO RECEIVE CREDIT UNLESS YOU HAD CONTACTED ME PRIOR TO DUE DATE. MAKE SURE YOU ARE USING COMPLETE SENTENCES FOR EACH QUESTION AND THAT YOU ARE CREATING A CLEAR UNDERSTANDING OF WHAT THE BIRTH DEFECT IS. THIS MAY INCLUDE SOUNDING LIKE YOU ARE REPEATING YOURSELF WITHIN THE QUESTIONS. ALSO I NOTICE SOME SPELLING ERRORS, BE CAREFUL WITH THIS. DON'T FORGET YOUR REFERENCES. I LOOK FORWARD TO READING YOUR ANSWERS WHEN COMPLETED. (I AM NOT YELLING, JUST USING BLACK AND CAPS TO MAKE SURE YOU SEE MY COMMENTS :-) )

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1.//What is the name of the defect?// Hydrocephaly is the build up of fulid in the cavities deep in the brain causing pressure to the brain, increasing the head and brain in size. An imbalence of cerebrospinal fluid may cause damages to the brain tissue. =====

. "Hydrocephalus Definition." Hydrocephalus. Mayo Clinic, Aug. 2, 2011. Web. 16 May 2012. [].

Fallon, Jr., L. Fleming. "Hydrocephalus." The Gale Encyclopedia of Genetic Disorders. Ed. Stacey L. Blachford. Detroit: Gale, 2010. Gale Science In Context. Web. 16 May 2012.

2. //What are the symptoms? Describe in detail.// Some symptoms include headaches, nausea, and vomitting, especially in the mornings. Also, people with this birth defect have many difficulties learning, remebering, and receive involentary urination or bowel movements. These symptoms vary though depending on the age and disease progression. 80% of the hydrocephalus population had adducted thumbs, meaning that they fall on to the palm of the hand. Its also common for them to have lack of speech and problems with leg control in worse cases that can lead to no being able to walk. Hyrdocephalus also narrows down on the part of you brain that allows information to tranfer from one side to another, also the tissue in the brain is constantly growing putting presure on the skull. This pressure on the skull makes it hard to think, and causing the head to appear bigger. Their skulls are not fully hardened respembling a babys head. Sady more times then not kids born with hyrocephalus die at birth or within the first year of life.

3. //What population does the defect most commonly affect (if any)? (Only Males, Whites, etc.?)// This birth defect has a different effect on female rather than males. Something called L1CAM connects to the X chromosomes in the body and since female chromsomes are XX and male chromosomes are XY the females can provide for the opposite chromosome. The female chromosomes support each other because the L1CAM only connects to one of the X chromosomes. This can impact females too but it happens more in males. Many females who carrie the L1CAM aren't affected but can pass it on to other generations to come. Also, this birth defect occurs approximitly in every one for 500 live births. This birth defect does not impacts different ethnic groups because it can happen to anyone who is related to someone who carries the L1CAM.

// 4. What is the cause of the defect? (Genetic, Evnviornmental or a combination of both) // Hydrocephalus can occur either as a condition present at birth or can show up later in life. Both genetic and environmental can contribute to this birth defect. // A. If the defect is a genetic defect is it a dominant or recessive trait or is it the result of a mutation? // Hydrocephalus is caused genetically by a single gene defect on the X chromosome, or another chromosome the chances of a kid of a parent with this defect having it also is 1 in every 5 kids. // B. If it is an enviornmental defect, what condition lead to its cause? // Hydrocepalus can be enviromentaly caused when pregnant mother falls or ingures her stomach causing a tumor, infection, prematurity, bleeding inside the head, birth injury, and abnormal blood vessel formation inside of the head trauma that all can conribute to this condition. // C. Is it a combination of inherited and enviornmental conditions? What are the conditions? // Yes this birth defect is a inherited and environmental condition because it can happen to anyone but if it runs in the family then the child can develop this condition too.

//5. When is the defect most commonly diagnosed?// When Hydrocephalus birth defect is most commonly diagnosed is sometimes before birth but many times after birth. Only a little while after the child is born test are done to identify whether or not the child’s head is growing too fast. This is because even in ultrasounds you can tell but without measuring the circumference of the child’s head, doctors cannot tell right away. Also, they have to debate on whether or not hydrocephalus is present or starting to develop. This is done by the doctors debating and discussing if the babies head size if growing too much. People who were diagnosed with hydrocephalus at a younger age or birth are known to become immune to this defect they face. This is important to when it's diagnosed because it states that having this defect at a younger age helps your body get used to the challenges they have. If this defect is found later in life, the person may create more conflicts for the child in a different way where their developmental skills respond slower. Another thing is that when a child with hydrocephalus is born most need to be born through a Cesarean section because the child’s head size is too large.

// 6. How is the defect most commonly diagnosed? // In many cases hydrocephalus can be seen in an ultrasound before birth, though it is usually not noticeable or has not developed until the third trimester. If not seen in ultrasound it can also be determined at birth after a series of tests and examination. for example before the neurosurgeon orders any tests, such as a CT or MRI scan, she will likely perform a neurological examination. This exam includes a history of neurological milestones, and a physical examination to check for possible neurological deficits.

// 7. How is the defect treated and who(which specialists) treat the defect? What is the hope for a cure in the future? // Hydrocephalus is treated by surgery that inserts a tube between the brain and the abdominal cavity. The tube that is surgically inserted into the child is called a shunt and it prevents reverse flow of fluid along with reducing pressure from the brain. This tube allows the fluid from the brain to drain out properly and decrease amount to continue to build up. The tissues constantly are developing and so the fluids need to drain without hurting the child. Other surgeries might be done later if the tube is blocked or an infection develops from the placement of the tube. Another reason why surgery would be done is if the tube is becoming too small for the child in other words, if the child is growing and the tube isn't succeeding for its purpose. This is the only known cure for draining out fluids from the brain that works and is productive for children with this defect.

// 8. Is there any way to prevent the defect? If so, what precautions are needed? // How a child with Hydrocephalus is treated depends on the age, health, medical history, extent, type, tolerance, and expectations. For example they are not going to operate on a new born baby with less severe case of the defect, with limited or weak symptoms, who may be allergic to a medicine and sick. It is not expected that a baby will ever be fully healed of the defect and it may always be visable that they had a defect. Surgery to remove the extra spinal fluid can be done more than once depending on the amount of fluid in the brain. There are also medications if help reduce the fluid as well as sympoms for evample seizures. The goal of the surgery and medication is to reduce the pressure on the brain and possibly relive or weaken the symptoms.

// 9. What is life like with this birth defect for the child and the family? // Living with this birth defect can be very difficult but a young woman named Sara wanted to share to the world some of the troubles she faces. She created a blog on the internet about how difficult sometimes it is to deal with problems such as her own. The post that we read was asking for support because many people are unaware of how hard it is to learn and develop with this defect. In the post she claims that “When I’m not able to eat and my head hurts, my shunt might not be working.” This says so much about people going through the same challenges because the constant worry can nearly drive them crazy. Still not many doctors are aware of how to determine whether or not a shunt is working or not working. Also, Sara exclaims that “They (doctors) won’t see me until it’s really bad and a lot of times I end up in the emergency room.” She suffers from this defect everyday and she had to adjust to this daily life ever since she was born. Since she is old enough to face this challenge on her own, her family isn't greatly impacted with the financial costs but they still suffer from this defect beside her. This is the site that i got this inforation from but the post was called [|Support for Living with Hydrocephalus] []

// 10 . What kind of support is avalible to families of a child born with this birth defect? give specifics. // The hydrocepalus accociation in right out of harford conneticut. This orginizations plan is to eliminate the challenges of hydrocephalus. in order to reach this goal they fundraise and raise awarness of this defect b hosting a charity walk. they als provide families with resources at their library and connect families. []

// 11.At least one addirional information about the birth defect that had an impact on you. // Additional information about this birth defect that had an impact on me was that people are always suffering between the headaches and the no sleeping or too much sleeping problems. I can kind of conect to this because i have trouble sleeping sometimes but i could never imagine having so many problems with it like how they probably d. I was impacted by the fact that most of them can not walk because of the the muscle spasms in their legs. This impacts me bacuse i walk every where and think how it would change your life so much, I wouldn't be able to do the things that I love.

// citation; // 1) . "Hydrocephalus Definition." Hydrocephalus. Mayo Clinic, Aug. 2, 2011. Web. 16 May 2012. [].

2) Fallon, Jr., L. Fleming. "Hydrocephalus." The Gale Encyclopedia of Genetic Disorders. Ed. Stacey L. Blachford. Detroit: Gale, 2010. Gale Science In Context. Web. 16 May 2012.

3) "Hydrocephalus." The Gale Encyclopedia of Genetic Disorders. Ed. Laurie J. Fundukian. 3rd ed. Vol. 1. Detroit: Gale, 2010. 784-788. Gale Virtual Reference Library. Web. 21 May 2012.

http://go.galegroup.com/ps/i.do?id=GALE%7CCX2468400244&v=2.1&u=23230&it=r&p=GVRL&sw=w

4) "Hydrocephalus." World of Health. Gale, 2007. Gale Science In Context. Web. 21 May 2012. []


 * 5) "X-linked hydrocephaly." Ron C. Michaelis, PhD, FACMG. The Gale Encyclopedia of Genetic Disorders. Ed. Laurie Fundukian. 3rd ed. Detroit: Gale, 2010. 2 vols. ||