Fragile X SyndromeJayce Black

March 8, 2011Abn. Psyc.

Fragile X Syndrome is an inherited condition that affects mostly males because of a change or mutation in the

X chromosome formation at time of conception. (From parent to child)

Most individuals = 46 chromosomes;In females - 2 X’sIn males – X and a Y

FMR1 – lack of this gene causes Fragile X Syndrome: ~ this gene produces FMRP (Fragile X Mental Retardation Protein) :

~ which is important in brain development:

- Learning- Behavior - Communication

The FMR1 gene is given in 3 forms - defined by repeats of a pattern of DNA called CGG repeats:

~ Individuals with less than 60 CGG repeats = a normal gene. ~ Individuals with 60-200 CGG repeats = a premutation (they carry an unstable mutation which can expand in future generations.)~ Individuals with over 200 CGG repeats = afull mutation which causes Fragile X

Syndrome.

The full mutation causes the gene to shut down = causing the individual to NOT make FMRP = causing the FMR1 gene to NOT work properly.

Physical characteristics:

Both Diagnosed with Fragile x Syndrome

Tyler - 6 Karson - 7

Behavioral characteristics:~ motor/speech delays~ hand flapping~ hyperactivity~ impulsive disorder

Most children with FXS are very sweet, loving, and have a great sense of humor.

Cognitive deficiencies:

~ poor higher-level thinking and reasoning skills ~ difficulty resolving cause and effect questions.

Tyler and Karson attending the Marcus Institute in Atlanta in 2007 for 6 months.

~ Tyler was in the “learning” department.~ Karson was in the “behavioral” department.

Tyler at the Marcus Institute

Karson at the Marcus Institute

• My uncle is a single father raising Karson and Tyler.

• Tyler – Peachcare/Wellcare • My uncle pays 500 dollars out of pocket every

month for Tyler’s medication.• The insurance wants Tyler to take

the off brand that is cheaper, but the off brand doesn’t help Tyler like the expensive one.

Financial Burdens:

treatments are educational interventions designed to increase social skills and to improve intellectual and adaptive functioning.

Work with Occupational Therapist and doctors to determine what medications are the best.

Treatments

Schmidt, G. (2010). What is the Cause of Fragile X Syndrome? February 2011. http://www.nfxf.org/html/cause.htm

Clapp, K., MS., and Tranfaglia, M. (2010) About Fragile X Syndrome. February 2011. http://www.fraxa.org/aboutFX.aspx

Hall, S. S. (2009). Treatments for fragile X syndrome: A closer look at the data. Developmental Disabilities Research Reviews, 15(4), 353-360. doi:10.1002/ddrr.78

Abrams, L. (2010). Summary of Fragile X Syndrome. February 2011. http://www.nfxf.org/html/summary.htm

 

Work Cited