How possible is it that a cure will be found?

There is currently not a cure for Fragile X syndrome, even though research is being put into finding one. We do not know how close we are to finding a cure right now. Hopefully a cure will be found soon.

Sources:

Fragile X Syndrome. 1 University of Michigan. 8 Mar. 2009 http://www.med.umich.edu/1libr/yourchild/fragilex.htm.

http://www.nichd.nih.gov/publications/pubs/fragileX/sub13.cfm?renderforprint=1

What are some organizations that can help a family cope with a child's disorder?

The largest organization for Fraglie X is The National Fragile X Foundation. Click the link for more information.

What limitations does the person have?

According to Parenting and Child Health Services,

• "Some boys can be affected only mildly, but some can have quite severe intellectual disabilities. Most have moderate disability. Girls usually have milder delay.


• Delays in learning, speech and communication skills, gross motor skills (such as walking and running) and fine motor skills (eg holding and using a pencil) can be a part of the developmental disability."

Sources:

Fragile X Syndrome. 13 Nov. 2008. 8 Mar. 2009 http://www.cyh.com/HealthTopics/HealthTopicDetails.aspx?p=114&np=306&id=1929.

http://geneticsmodules.duhs.duke.edu/Design/images/Slide20103.jpg

What is everyday life like? What is the quality of Life?

Fragile X is known to give autism to about 90% of those diagnosed. According to the National Fragile X Foundation, Fragile X also gives "rise to anxiety disorders, attention deficit hyperactivity disorder, psychosis, obsessive-compulsive disorder, and many other problems."

Sources:

"What is Fragile X." Conquer Fragile X. 1 The National Fragile X Foundation. 4 Mar. 2009 <http://www.fragilex.org/cfxf/about.php>.

http://www.sciencemuseum.org.uk/on-line/genes/images/1-3-5-1-4-2-1-2-3-0-0.jpg

How can the disease be treated?

There is no proper treatment for Fragile X Syndrome although some therapy such as speech and language therapy, occupational therapy, physical therapy, and psychotherapy, can help depending upon the child's symptoms. Also, certain drugs may be used to treat behavioral problems, such as mood swings and aggressive outbursts in order to calm the child down.

Sources:

Fragile X Syndrome. 31 Oct. 2006. Penn State Children's Hospital. 9 Mar. 2009 http://www.hmc.psu.edu/childrens/healthinfo/f/fragilex.htm.

http://a.abcnews.com/images/Health/ht_fragile_x_070628_mn.jpg

What is the life expectancy of someone with the disease?

Most people who have Fragile X Syndrome are perfectly healthy in the aspect of life expectancy. Their life expectancy is no different than a normal person.

Sources:

Fragile X Syndrome. 13 Nov. 2008. 8 Mar. 2009 http://www.cyh.com/HealthTopics/HealthTopicDetails.aspx?p=114&np=306&id=1929.

http://www.smilefoundation.com.au/images/research_dansimpson.jpg

What are the physical symptoms?

The physical symptoms can differ from boy to girl and most don't tend to show until puberty.

• Male - long face, larger head, wider and longer ears



• Female - long face, large jaw, large ears, high arched palate; most females have little to none behavior or educational difficulties with Fragile X Syndrome

Sources:

What Facial Characteristics are Common?. 9 Dec. 2008. The National Fragile X Foundation. 4 Mar. 2009 http://www.fragilex.org/html/facial.htm.

http://www.intellectualdisability.info/mental_phys_health/images/sabaratnam/sabaratnam4.gif

http://images.ocregister.com/newsimages/life/2008/04/01_pulse4_large.jpg

How is the disease diagnosed?

The disease is diagnosed through a blood test, which shows both carriers and affected individulals. This shows the exact diagnosis.

Sources:

"What is Fragile X." Conquer Fragile X. 1 The National Fragile X Foundation. 4 Mar. 2009 http://www.fragilex.org/cfxf/about.php.

http://www.aminol-uk.com/blood%20sample%202.jpg

What are the chances of a person with this disease passing the disease to their offspring?

Carrier men pass the premutation to all their daughters but none of their sons. Each child of a carrier woman has a 50% chance of inheriting the gene. The Fragile X premutation can be passed silently down through generations in a family before a child is affected by the syndrome. A DNA blood test identifies both carriers and affected individuals.

Sources:
"What is Fragile X." Conquer Fragile X. 1 The National Fragile X Foundation. 4 Mar. 2009 <http://ww.fragilex.org/cfxf/about/php>.

How prevalent is the disease in the population?

It is unknown the exact number of occurrence of Fragile X Syndrome, but recent statistics show that it is affected in:

• 1 in 2000 boys


• 1 in 4000 girls are estimated to be affected.


• 1 in 260 women are carriers.

Sources:

"What is Fragile X." Conquer Fragile X. 1 The National Fragile X Foundation. 4 Mar. 2009 <http://www.fragilex.org/cfxf/about.php>.

http://www.specialchild.com/archives/poster-child016.jpg

What are the possible genotypes of the parents?

According to this pedigree created by Dr. Laurie Ann Demmer and the punnet square created by me, the genotypes would be as followed:

FF- 0%

Ff- 50%

ff- 50%

Sources:

http://ocw.tufts.edu/data/20/301035/301050_xlarge.jpg

Punnet square created by Justin Hrabovsky using Paint.NET

How does a person inherit this genetic disorder?

Fragile X is a single gene disorder carried by either a mother or a father. It is transmitted from parent to child through the genetic information (DNA) that is in the sperm and eggs.

Is it dominant or recessive?

The inheritance is different from common dominant or recessive inheritance patterns. A fragile area on the X chromosome (FMR1) has repeats in the genetic code. The more repeats, the more likely there is to be a problem. Boys and girls can both be affected, but because boys have only one X chromosome, a single fragile X is likely to affect them more severely.

Is is genetic or chromosomal?

It is transmitted from parent to child through the genetic information in the sperm and eggs.

Sources:

How is Fraglie X Syndrome Inherited?. 30 Sep. 2008. The National Fragile X Foundation. 4 Mar. 2009 <http://www.fragilex.org/html/inheritance.htm>.

"Fragile X Syndrome." Fragile X Syndrome. 1 The Health Central Network Inc.. 4 Mar. 2009 http://www.healthscout.com/ency/1/001668.html.

http://www.web-site-content-management.org/management/sperm-and-egg/image012.gif

What is a Genetic Counselor???

A Genetic Counselor is a person who is in the heath profession and has experience in genetics and counseling. They give information and support to families who have members with genetic diseases.

The Official Definition according to the NSGC is-

Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates:
Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence.
Education about inheritance, testing, management, prevention, resources and research.
Counseling to promote informed choices and adaptation to the risk or condition.

National Society of Genetic Counselors, 2005

Education

• Genetic counselors usually have at least a Master's degree from one of the United States graduate programs. They must learn skills such as ethics, genetics, and counseling. For a list of genetic counceling training programs, visit http://www.nsgc.org/career/trainingprogram.cfm.

Job Details

Clinical - working with patients and families in hospitals, private practice, or on a consulting basis. Genetic counselors may specialize in genetic counseling in the prenatal, pediatric, cancer-risk, adult, cardiovascular, hematology, neurogenetics setting.
Commercial - working with biotech companies which design, sell, and administer genetic tests
Diagnostic Laboratories – working as a liaison between the diagnostic laboratory and referring physicians and their patients
Education and Public Policy - teaching and advising companies, students, and lawmakers
Research – working as a study coordinator for research projects involved in genetics

Sources:
Carey, Meghan E. "Genetic Counseling." Genetic Counseling. 29 Sep. 2008. Human Genome Project. 4 Mar. 2009 <http://www.ornl.gov/sci/techresources/Human_Genome/medicine/genecounseling.shtml>.

"Genetic Counseling as a Profession." Genetic Counseling as a Profession. 1 2005. National Society of Genetic Counselors. 4 Mar. 2009 <http://www.nsgc.org/about/definition.cfm>.

http://www2.massgeneral.org/livingwithtsc/images/care/popup/i_care_genetic_jacob.jpg