Presentation-Final [Autosaved]

Views:
 
Category: Entertainment
     
 

Presentation Description

No description available.

Comments

Presentation Transcript

The fragile x Syndrome:

The fragile x Syndrome Ahmad Abualsamid Modeling and Simulation Department UCF [email protected]

Overview:

Overview What is the Fragile X Syndrome What Causes Fragile X Characteristics of Fragile X In Closing

Fragile X:

Fragile X Inherited Genetic Condition No Cure It Causes Intellectual Disabilities Learning Disabilities Physical Characteristics Autistic Behaviors ( https ://fragilex.org/2015/uncategorized/behavior-and-fragile-x-syndrome /) Affects 1 in every 3600 males 1 in every 4000 females

Our genes:

Our genes P assed to Offsprings Humans have 22 Autosomes Chromosome P airs 1 Sex C hromosome P air – Y and X X Chromosome Typical: sub 40 CGG repeats Fragile: 200+ CGG repeats Carriers: 40 to 200 Fun Readings: http://www.genome.gov /

Characteristics of Fragile X :

Characteristics of Fragile X Intellectual Disabilities Elongated Faces Hand Flapping Hyperactivity, short attention span, easily distracted, ADHD Extreme Anxiety Impulsive behavior More Info: https://fragilex.org/2015/uncategorized/behavior-and-fragile-x-syndrome /

Impact on Family:

Impact on Family Devastating diagnosis Denial – Anger – Bargaining – Depression – Acceptance Life changes dramatically Expenses Therapies Schools + IEP Reaching Acceptance is key. Courtesy fragilex.org

Family dynamics:

Family dynamics Balancing sibling needs

But with all the Challenges:

But with all the Challenges

In Closing:

In Closing Need to Spread A wareness https://fragilex.org/community/fragile-x-awareness-month / Need to Learn M ore http://www.fraxa.org / https:// www.fragilex.org Need to Accept Not All Disabilities are Physical Courtesy fragilex.org

REFERENCES:

REFERENCES Abualsamid, A. (2014). If Fragile X Children cannot learn the way we teach maybe we should teach the way they learn. Topics in Cognitive Sciences, Fall 2014 - UCF. Working paper. Armour , B. (2014). Overview of Disability Data Disseminated by the CDCs Division of Human Development and Disability. 2014 Annual Disability Statistics Compendium. CDC Disability Statistics: Recent and Future Developments. Dec, 3 rd , 2014. http://www.disabilitycompendium.org/docs/default-source/2014- compendium/overview-of-disability-data-disseminated-by-cdc-dhdd.pdf

references:

references CDC (2014). RFA-DD-15-003, Using Longitudinal Data to Characteristic the Natural History of Fragile X Syndrome to Improve Services and Outcomes. Department of Health and Human Services. Center for Disease Control and Prevention. Retrieved Jan. 5 th , 2015, from http://www.grants.gov/web/grants/view-opportunity.html?oppId=270661 Ennis , S., Ward, D., & Murray, A. (2006). Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers. Eur J Hum Genet, 14 , 153-155. Hagerman , R. & Hagerman, P. (2002). Fragile X Syndrome: Diagnosis, Treatment and Research . The John Hopkins Series in Contemporary Medicine and Public Health. Published by John Hopkins University Press, 2002. editors: Randi Hagerman & Paul Hagerman. Hagerman , R., Staley, L., O'Connor, R., Lugenbeel , K., Nelson, D., McLean, S., & Taylor, A. (1996). Learning-disabled males with Fragile-X CGG expansion in the upper permutation size range. Pediatrics, Jan 1996, Vol. 97, Issue 1: p 122,4

authorStream Live Help