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CMN 577 Unit 1 Fragile X Syndrome
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CMN 577 Unit 1 Fragile X Syndrome
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CMN 577 Unit 1 Fragile X SyndromeGenerally describe what Fragile X is?
A defect of the FMR1 gene in that it causes a disruption of development of the
nervous system
What gender does Fragile X effect most?
Men
What are the s/s of Fragile X syndrome? (4)
1. Delayed speech and language development by age 2 years
2. Anxiety/hyperactivity and attention deficit hyperactivity disorder (ADHD)
3. Autism spectrum disorders- difficulty interacting with others and
communication, impulsivity, and aggressiveness
4. Impaired intellectual ability in males- mild to moderate; females- mild (less
than males). Females may have learning disabilities instead of mental
retardation.
What are the S/S of Fragile X?
1. Long narrow face, large ears, prominent jaw and forehead, fingers that are
long and unusually flexible, flat feet, and macroorchidism (enlarged testes) after
puberty. The facial characteristics are often more noticeable as the child ages.
2. Anxiety is often present- see signs and symptoms
3. Males- high pitched voice; possible mitral valve prolapse
4. Females: premature ovarian failure
The Fragile X CARRIERS can manifest with what s/s? (4) How is this different
from full fledged disease? (1)
-presents with at least 1 physical attribute such as prominent ears, premature
ovarian failure (in females), anxiety/emotional disorders, and tremor/ataxia
beyond middle age.
B) They do not have intellectual impairment.
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