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Fragile X Syndrome

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by

Jessica Chu

on 1 April 2013

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Transcript of Fragile X Syndrome

Doctor's Report Physiological Cause: improper brain development, leading to intellectual disability, behavioral and learning challenges, and abnormal physical characteristics Fragile X Syndrome Gene:
change in the FMR1 gene
found on the X Chromosome
FMR1 makes a protein needed for brain growth BBC - Health: Fragile X syndrome. BBC - Homepage. Retrieved March 24, 2013, from http://www.bbc.co.uk/health/physical_health/conditions/fragilex1.shtml
CDC - Fragile X Syndrome (FXS), Home - NCBDDD. Centers for Disease Control and Prevention. Retrieved March 24, 2013, from http://www.cdc.gov/ncbddd/fxs/index.html
Fragile X Syndrome - Symptoms, Diagnosis, Treatment of Fragile X Syndrome - NY Times Health Information. Health News - The New York Times. Retrieved March 24, 2013, from http://health.nytimes.com/health/guides/disease/fragile-x-syndrome/overview.html
Fragile X syndrome - PubMed Health. National Center for Biotechnology Information. Retrieved March 17, 2013, from http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002633/
Home - National Fragile X Foundation. Home - National Fragile X Foundation. Retrieved March 21, 2013, from http://www.fragilex.org/ Parent's Report Financial Obligations/Limitations:
genetic testing
special schooling/treatment
clinics
medicine
counseling and doctor's visits
reproductive options for future children
change of work hours Patient's Report Symptoms:
flat feet
speech delay
large forehead
long face
social anxiety References By: Jessica Chu Fragile X Syndrome Associated Symptoms:
delay in crawling, walking, or twisting
hand clapping or biting
hyperactive or impulsive behavior
intellectual disability
speech and language delay
tendency to avoid eye contact
flat feet
flexible joints and low muscle tone
large body size
large forehead or ears
prominent jaw
long face
soft skin
tremors
poor coordination Treatments:
no known cure
training and education developed to help affected children function
special education services
clinics
medication Prognosis:
depends on the amount of physical and intellectual disability
more disability requires more training and less independence Genetic Counselor's Report Mutation
a small part of the genetic code repeats (CGG)
the defect produces too little or no protein
less than 45 CGG repeats is normal
45-55 CGG repeats does not cause any fragile X disorder (Gray Area)
55-200 CGG repeats carry an unstable mutation that can expand in future generations
over 200 CGG repeats is a full mutation causing Fragile X Syndrome (gene shuts down) Inheritance: x-linked recessive Emotional Issues:
depression or sadness due to your child's lack of progress
possibly never having unaffected children
stress of raising a child with Fragile X Syndrome Ethical Considerations:
prenatal diagnosis
amniocentesis
chorionic villus sampling
preimplantation genetic diagnosis Social Concerns:
treated differently by others
different relationship with children
concerns for their child's social disabilities
aggression
shyness Progression:
difficulty becoming pregnant
premature menopause Account:
mocked for abnormal physical features
few job opportunities
many clinics and doctor's appointments Concerns:
having children
supporting a family Other Names:
Martin-Bell Syndrome
Marker X Syndrome Description:
most common known cause of inherited intellectual disability
affects males and females
females tend to have milder symptoms Diagnosis:
genetic testing
boys: 35-37 months
girls: 42 months Associated Disorders:
Fragile X-associated Tremor/Ataxia Syndrome (FXTAS)
Fragile X-associated Primary Ovarian Insufficiency (FXPOI) Signs:
very few signs in babies
large head circumference in babies
intellectual disability
large testicles after puberty
subtle differences in facial features
excess shyness Information: Pictures: Family Pedigree Fragile X syndrome. Geneva Foundation for Medical Education and Research. Retrieved March 27, 2013, from http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?offset=15&cat3=131
Fragile X syndrome - Wikipedia, the free encyclopedia. Wikipedia, the free encyclopedia. Retrieved March 27, 2013, from http://en.wikipedia.org/wiki/Fragile_X_syndrome
Home. Our Fragile World. Retrieved March 27, 2013, from https://www.ourfragilexworld.org/
Premature Ovarian Failure - Fragile X . Cepmed. Retrieved March 27, 2013, from https://cepmed.dnadirect.com/grc/patient-site/fragile-x-carrier/genetics-of-fragile-x.html?x6jD2prG6PryERxWHV8_wLf
Sandhyarani, N. Interesting Facts about Fragile X Syndrome. Buzzle. Retrieved March 27, 2013, from http://www.buzzle.com/articles/interesting-facts-about-fragile-x-syndrome.html
UNSW Embryo- Abnormal Development - Fragile X. UNSW Embryology. Retrieved March 27, 2013, from http://embryology.med.unsw.edu.au/Defect/fragilex.htm
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