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Fragile x syndrome

A Description of Fragile X Syndrome including causes, symptoms and prevalence

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Fragile x syndrome

  1. 1. Fragile X Syndrome Cathy Peterson Special Needs Resource Blog
  2. 2. Definition • Fragile X Syndrome is a condition that happens when the body can’t make enough protein it needs for the brain to grow and develop.
  3. 3. Causes • Fragile X Syndrome is inherited • The cause of FXS is genetic. FXS occurs when there is a change in a gene on the X chromosome called FMR1. The FMR1 gene makes a protein needed for normal brain development. In FXS, the FMR1 gene does not work properly. The protein is not made, and the brain does not develop as it should. The lack of this protein causes FXS. Other Fragile X-associated
  4. 4. Prevalence • Fragile X Syndrome is the most common inherited causes of learning problems and intellectual disabilities. • In the United States, about 1 in 4,000 boys and I in 8,000 girls are born each year with Fragile X. • Nearly half of all children with fragile X syndrome meet the criteria for a diagnosis of autism.
  5. 5. Diaganosis • The average age of FXS diagnosis of boys is 35 to 37 months. Girls are diagnosed at an average age of 42 months. • Parents are usually the first to notice symptoms of FXS at about 12 months of age for boys and 16 months of age for girls. – Parents reported having to visit a physician repeatedly before the physician confirmed a developmental delay at an average age of 20 months of age for boys and 26 months of age for girls. – About 16 months typically passed between professional confirmation of a delay and the diagnosis of FXS. • More than one third (37.6%) of families reported that more than 10 visits were required before the diagnosis of FXS
  6. 6. First Person to Recognize Development Concerns
  7. 7. Developmental Signs and Symptoms • Learning Problems, Especially for boys • Developmental delays in sitting, crawling or walking • Problems with speech and language
  8. 8. Co-Occurring Disorders • Males – Developmental Delay (DD) or Intellectual Disability (ID): 96% – Attention Problems: 84% – Anxiety: 70% – Hyperactivity: 66% – Autism: 46% – Self-Injury: 41% – Aggressiveness: 38% – Seizures: 18% – Depression: 12% • Females – Attention Problems: 67% – Developmental Delay or Intellectual Disability: 64% – Anxiety: 56% – Hyperactivity: 30% – Depression: 22% – Autism: 16% – Aggressiveness: 14% – Self-Injury: 10% – Seizures: 7%
  9. 9. Social or Behavior Signs and Symptoms • Not making eye contact • Having trouble paying attention • Flapping hands • Being hyperactive • Being afraid in new situations • Being aggressive for boys • Being shy for girls • Not wanting to be touched • Being bothered by certain sensations, such as bright light, loud noises
  10. 10. Physical Signs and Symptoms • Long face, ears, and chin • Loose, flexible joins- flat feet • Large testicles after puberty for boys • Seizures in about 15 out of 100 boys and 5 out of 100 girls
  11. 11. Treatment • There is currently no cure for Fragile X, although appropriate education and medications can help maximize the potential of each child. For very young children, early intervention is highly recommended and can be very helpful. During school years most children benefit from an Individualized Education Plan (IEP). Speech, occupational, and physical therapy can help. • Currently no medicines are specifically approved to treat Fragile X. However, there are many medications to target specific symptoms. • Without specific effective treatments, most boys and many girls remain significantly affected throughout their lives. The cost to society for treatment, special education, and lost income is staggering. The need for research aimed at treatment is urgent.
  12. 12. Adult Life of Men and Women with FXS • Adult Life of Men and Women with FXS • A national family survey of adults with FXS showed that: • About 44% of women with FXS achieved a high or very high level of independence in adult life. – More than one third of women with FXS lived independently, often with a spouse or romantic partner, and required no assistance with activities of daily living. – The large majority of women had at least a high school diploma; almost half had full-time jobs (and typically received benefits from their job). – The majority had many friends and participated in many leisure activities. • About 9% of men with FXS achieved a high or very high level of independence in adult life. – The majority of men needed moderate to considerable assistance with activities of daily living and did not have a high school diploma. – One-fifth of men had full-time jobs; most did not receive benefits from their job. – Less than one-third had developed many friends, and only half participated in many leisure activities
  13. 13. Cost • study analyzing the employment impact and financial burden experienced by families of children with FXS showed: • About 47% reported that fragile X caused a financial burden. • Over 62% of respondents stated that they had to change work hours or stop work because of having a child with FXS. • Among different components of FXS-related out-of-pocket expenditures, the sum of medication and medical expenditures, including genetic testing, accounted for 27% of the total. Spending on developmental assessments and various therapies together accounted for 31% of the total. • The strongest predictor of the family-level economic impact of fragile X was the total number of co-occurring conditions among children who were affected. •
  14. 14. Resources • • •
  15. 15. References

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A Description of Fragile X Syndrome including causes, symptoms and prevalence


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