Your SlideShare is downloading. ×
0
Genetic Disorders and Counseling By: Courtney Coyle, Mary ...
Genetic Disorders and Counseling By: Courtney Coyle, Mary ...
Genetic Disorders and Counseling By: Courtney Coyle, Mary ...
Genetic Disorders and Counseling By: Courtney Coyle, Mary ...
Genetic Disorders and Counseling By: Courtney Coyle, Mary ...
Genetic Disorders and Counseling By: Courtney Coyle, Mary ...
Genetic Disorders and Counseling By: Courtney Coyle, Mary ...
Genetic Disorders and Counseling By: Courtney Coyle, Mary ...
Genetic Disorders and Counseling By: Courtney Coyle, Mary ...
Genetic Disorders and Counseling By: Courtney Coyle, Mary ...
Genetic Disorders and Counseling By: Courtney Coyle, Mary ...
Genetic Disorders and Counseling By: Courtney Coyle, Mary ...
Genetic Disorders and Counseling By: Courtney Coyle, Mary ...
Genetic Disorders and Counseling By: Courtney Coyle, Mary ...
Genetic Disorders and Counseling By: Courtney Coyle, Mary ...
Genetic Disorders and Counseling By: Courtney Coyle, Mary ...
Genetic Disorders and Counseling By: Courtney Coyle, Mary ...
Genetic Disorders and Counseling By: Courtney Coyle, Mary ...
Genetic Disorders and Counseling By: Courtney Coyle, Mary ...
Genetic Disorders and Counseling By: Courtney Coyle, Mary ...
Genetic Disorders and Counseling By: Courtney Coyle, Mary ...
Genetic Disorders and Counseling By: Courtney Coyle, Mary ...
Genetic Disorders and Counseling By: Courtney Coyle, Mary ...
Upcoming SlideShare
Loading in...5
×

Thanks for flagging this SlideShare!

Oops! An error has occurred.

×
Saving this for later? Get the SlideShare app to save on your phone or tablet. Read anywhere, anytime – even offline.
Text the download link to your phone
Standard text messaging rates apply

Genetic Disorders and Counseling By: Courtney Coyle, Mary ...

561

Published on

0 Comments
1 Like
Statistics
Notes
  • Be the first to comment

No Downloads
Views
Total Views
561
On Slideshare
0
From Embeds
0
Number of Embeds
0
Actions
Shares
0
Downloads
22
Comments
0
Likes
1
Embeds 0
No embeds

Report content
Flagged as inappropriate Flag as inappropriate
Flag as inappropriate

Select your reason for flagging this presentation as inappropriate.

Cancel
No notes for slide

Transcript

  • 1. Genetic Disorders and Counseling By: Courtney Coyle, Mary Neville, and Ethan Linville Mr. Taylor’s 8 th Grade Gifted Science Class April 2005
  • 2. Down Syndrome
    • Down Syndrome is a genetic disorder caused by extra genetic material. It affects over 350,000 people in the United States alone and is the most common imbalance in the number of autosomes in people.
    Source
  • 3. Causes of Down Syndrome
    • Down syndrome is the most common form of mental retardation caused by chromosomal aberration . The disease results from having three copies of all or a portion of chromosome 21. The risk of having a liveborn with Down syndrome increases with the mother's age, from 1 in 1000 at age 30 to 9 in 1000 at age 40. Most cases (~95%) of Down syndrome result from the presence of an intact extra copy of chromosome 21; however, translocation of a 1 copy of a critical region of this chromosome to another acrocentric chromosome (most often chromosome 14) can also lead to Down syndrome.
    Source movie
  • 4. Diagnosis: Pre-natal
    • Two types of procedures are available to pregnant women: screening tests and diagnostic tests. The screening tests estimate the risk of the baby having Down syndrome. Diagnostic tests tell whether or not the baby actually has Down syndrome.
    Source
  • 5. Symptoms
    • Decreased muscle tone at birth
    • Separated sutures (joints between the bones of the skull)
    • Asymmetrical or odd-shaped skull
    • Round head with flat area at the back of the head
    • Small skull
    • Upward slanting eyes, unusual for ethnic group
    • Small mouth with protruding tongue
    • Broad short hands
    • Single crease on the palm
    • Retarded growth and development
    • Delayed mental and social skills (mental retardation)
    • Iris lesion (an abnormality of the colored part of the eye called Brush field spots)
    Source
  • 6. Effects of Down Syndrome
    • Many children with Down syndrome have health complications beyond the usual childhood illnesses. Approximately 40% of the children have congenital heart defects. It is very important that an echocardiogram be performed on all newborns with Down syndrome in order to identify any serious cardiac problems that might be present. Some of the heart conditions require surgery while others only require careful monitoring. Children with Down syndrome have a higher incidence of infection, respiratory, vision and hearing problems as well as thyroid and other medical conditions. However, with appropriate medical care most children and adults with Down syndrome can lead healthy lives. The average life expectancy of individuals with Down syndrome is 55 years, with many living into their sixties and seventies.
    Source
  • 7. How it Affects Everyday Life
    • Most children with Down syndrome have mild to moderate impairments but it is important to note that they are more like other children than they are different. Early Intervention services should be provided shortly after birth. These services should include physical, speech, and developmental therapies. Most children attend their neighborhood schools, some in regular classes and others in special education classes. Some children have more significant needs and require a more specialized program.
    Source
  • 8. Treatments
    • There is no specific treatment for Down syndrome. Special education and training is offered in most communities for mentally handicapped children. Specific heart defects may require surgical correction. The potential for visual problems, hearing loss, and increased susceptibility to infection will require screening and treatment at appropriate intervals.
    Source
  • 9. Hemophilia
    • Hemophilia is a rare genetic blood clotting disorder that primarily affects males. People living with hemophilia do not have enough of, or are missing, one of the blood clotting proteins naturally found in blood. Two of the most common forms of hemophilia are A and B. In persons with hemophilia A (also called classical hemophilia), clotting Factor VIII is not present in sufficient amounts or is absent. In persons with hemophilia B (also called Christmas disease), clotting Factor IX is not present in sufficient amounts or is absent. People with hemophilia do not bleed more profusely or bleed faster than normal; they bleed for a longer period of time.
    Source
  • 10. Types of Hemophilia
    • hemophilia A - caused by a lack of the blood clotting factor VIII; approximately 85 percent of hemophiliacs have type A disease.
    • hemophilia B - caused by a deficiency of factor IX.
    • von Willebrand disease - a part of the factor VIII molecule known as von Willebrand factor or ristocetin cofactor is reduced. The von Willebrand factor involves helping the platelets (blood cells that control bleeding) attach to the lining of a vein or artery. This missing factor results in prolonged bleeding time because the platelets are unable to attach to the wall of the vessel and form a plug to stop the bleeding.
    Source
  • 11. Causes of Hemophilia
    • Hemophilia types A and B are inherited diseases passed on to children from a gene located on the X chromosome. Females have two X chromosomes, while males have one X and one Y chromosome. A female carrier of hemophilia has the hemophilia gene on one of her X chromosomes. When a hemophilia carrier female is pregnant, there is a 50/50 chance that the hemophilia gene will be passed on. If the gene is passed on to a son, he will have the disease. If the gene is passed on to a daughter, she will be a carrier. If the father has hemophilia but the mother does not carry the hemophilia gene, then none of the sons will have hemophilia disease, but all of the daughters will be carriers.
    Source
  • 12. Effects of Hemophilia
    • The most common cause of disability from hemophilia is chronic joint disease, or arthropathy, which is caused by uncontrolled bleeding into the joints.
    • Hemorrhage, which is a severe internal or external discharge of blood, is a continuing problem
    Source
  • 13. Symptoms
    • Bruising
    • Bleeds easily
    • Bleeding into a joint
    • Bleeding into the muscles
    • Bleeding from injury or bleeding in the brain
    • Other sources of bleeding
    Source normal abnormal
  • 14. Long-term Effects
    • Hemophilia is a lifelong disease. With the advances of specific clotting factors in laboratories, prevention and treatment of bleeds is improving.
    • With careful management, informed decisions, and recognition of complications, many children with hemophilia can live relatively healthy lives with a normal lifespan.
    Source
  • 15. Treatment
    • Parents may want to purchase soft toys with rounded corners for young children. Padded clothing and helmets may be necessary for the child that is learning to walk or becoming more active. Contact sports in school should be evaluated for risks of injury to the child.
    • Immunizations may need to be given under the skin instead of in the muscle to prevent deep muscle bleeds.
    • Joint hemorrhages may require surgery and/or immobilization.
    • Before surgery, including dental work, your child's physician may recommend factor replacement infusions to increase the child's clotting levels prior to the procedures.
    • Your child's physician may also recommend the discontinuation of aspirin, and aspirin-containing products, since these products have been linked to bleeding problems.
    • Blood transfusions may be necessary if significant blood loss has occurred.
    • Proper dental hygiene is a preventive measure.
    Source Movie
  • 16. Genetic Counseling
    • An educational counseling process for individuals and families who have a genetic disease or who are at risk for such a disease. Genetic counseling is designed to provide patients and their families with information about their condition and help them make informed decisions.
    Source
  • 17. How Long Does Counseling Take?
    • Some genetic counseling sessions are simple and require only one visit. Other times, multiple sessions are needed to collect additional information, to update the family or to deal with ongoing medical and/or psychosocial problems.
    Source
  • 18. Pedigrees and Counseling
    • An accurate pedigree is an important part of genetic counseling. A pedigree is used to help make a diagnosis of a genetic disease, to determine a person's risk of developing a genetic disease or to determine the risk of having a child with a genetic disease. At minimum, a pedigree includes first degree relatives (parents and siblings), second degree relatives (aunts and uncles) and third degree relatives (cousins and grandparents). The counselor may ask questions about more distant relatives like great-uncles or second cousins when necessary.
    Source
  • 19. What Happens During Counseling
    • After medical tests are completed and records are collected, the genetic counselor may be able to make a diagnosis, or just as importantly, determine that a person does not have or is not at risk for a genetic disease. The pedigree can also be used to estimate the risk relatives face to develop a genetic disease or have a child with a genetic disease.
    Source Genetic counselor examining human karyotype
  • 20. Reactions to Counseling
    • Patients can react in unexpected ways when they learn their genetic risk status. Some people take the information matter-of- factly. Others react with anger, shock, denial, grief, depression, confusion, and guilt. Treating and caring for people with genetic diseases can be expensive, yet some people may lose their jobs and health insurance because of their risk of developing a genetic disease. Someone diagnosed with a genetic disease may be avoided by other relatives because the relatives don't know what to say or because they don't want to face up to the possibility that they too may develop the same genetic disease. Other people may have a hard time understanding the meaning of risk - a risk of 10% may seem high to one relative but seem low to another relative.
    Source
  • 21. Ways to Cope with Disorders
    • Genetic counselors try to help families cope with the many ramifications of genetic testing. Patients who are having severe psychosocial problems may be referred to psychiatrists, social workers, or counselors. Genetic counselors can also help families who are having problems with insurance companies or employers who may not understand the medical implications of genetic testing.
    Source
  • 22. Sources
    • Answers
    • Genetic Disorder Corner
    • National Human Genome Research Institute
    • MadSci Network: Genetics
    • National Association for Down Syndrome
    • Down syndrome (Disease) - Detroit, Michigan
    • Hemophilia Galaxy
    • MCG Health System
    • Yale Medical Group
    • Medicine Net
    • The Natural Health Museum
  • 23. The End

×