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Fragile X Syndrome
Causes A mutation of a gene A change in part of the X chromosome
Females carry the gene 2-4x as often as males.
Male Characteristics Normal at birth Develop Mental Delays Behavioral Problems Hyperactivity ADHD 90% show mild-severe retardation Frequent ear & sinus infections Digestive Disorders
Physical Male Characteristics Large, protruding ears Long, narrow face Prominent Chin Prominent Forehead Double-jointed fingers Flat feet Puffy eyelids Enlarged testes after puberty
Female Characteristics Difficulty with math Excel at reading & spelling Frequent ear & sinus infections Digestive Disorders 1/3 – 1/2 have intellectual disabilities Speech delays Attention difficulties Emotionally Problems Anxiety Depression
Implications for Education Special Education Speech & Language Therapies Occupational Therapies Physical Therapies Multi-disciplinary approach
Diagnosis Boys are diagnosed at about 35-37 months Girls are diagnosed at about 41 months Diagnosis is confirmed through a blood test
Sources http://www.fragilex.org/html/summary.htm http://www.marchofdimes.com/birthdefects_fragilex.html http://www.medicinenet.com/fragile_x_syndrome/article.htm http://www.fpg.unc.edu/~fx/pages/edtreat.htm

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Fragile X Syndrome

Editor's Notes

  1. Fragile X syndrome is a genetic condition involving changes in part of the X chromosome. It is the most common form of inherited mental retardation in males and a significant cause of mental retardation in females.