Why Study Fragile X
By Dr Shewikar El Bakry
What??
• Fragile X syndrome =genetic condition +typical physical
attributes(phenotype) +behavioural + developmental.
• Mos...
Fragile X Syndrome (FXS)
•

expansion of CGG which affects
the FMR1 (fragile X mental
retardation 1 gene)
• 200 or more CG...
Clinical Picture
•
•
•
•
•
•

Intellectual
Physical
Behavioural and emotional
Feeding
Speech and language
Sensory
Prevalence
• 1 in 3,600 males
• 1 in 6,000- 8,000 females
• 1 in 260 women are carriers
• 1 in 800 men are carriers
• All ...
Diagnosis
• both a standard karyotype and DNA testing are suggested
when a possible diagnosis of fragile X syndrome is con...
(FXTAS)
Fragile X associated Tremor and Ataxia Syndrome

Adult onset
Premutation: common is
general population
Males: 1:81...
FXPOI
• Fragile X-Associated Primary Ovarian Insufficiency
• Affects female pre-mutation carriers (55-200 CGG
repeats)
• F...
Early/ Preschool Interventions
•
•
•
•
•
•
•
•

Speech and language therapy
Occupational therapy
Occasional physical thera...
Elementary School Interventions
–
–
–
–
–
–
–
–
–
–
–
–

Speech therapy
Occupational therapy
Extracurricular (sports, scou...
Essential update:
• Clinical improvement with minocycline documented in fragile X
syndrome
• In a randomized crossover stu...
QUESTIONS

THANK YOU
Why Fragile X syndrome
Why Fragile X syndrome
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Why Fragile X syndrome

  1. 1. Why Study Fragile X By Dr Shewikar El Bakry
  2. 2. What?? • Fragile X syndrome =genetic condition +typical physical attributes(phenotype) +behavioural + developmental. • Most common form inherited MR. • The specific gene(FMR1) on the X chromosome makes a protein necessary for brain development. • FMR1 DNA segment(CGG triplet repeat) up to 200 inactivate gene prevent protein s&s • Constriction Band
  3. 3. Fragile X Syndrome (FXS) • expansion of CGG which affects the FMR1 (fragile X mental retardation 1 gene) • 200 or more CGG repeats • this leads to a failure to express FMRP (fragile X mental retardation protein) • FMRP is needed for normal neural development • absence of FMRP leads to abnormalities in brain development and function http://cibar.stanford.edu/fragx/
  4. 4. Clinical Picture • • • • • • Intellectual Physical Behavioural and emotional Feeding Speech and language Sensory
  5. 5. Prevalence • 1 in 3,600 males • 1 in 6,000- 8,000 females • 1 in 260 women are carriers • 1 in 800 men are carriers • All socioeconomic background • All ethnic groups • Second to Down’s Syndrome as a genetic cause of MR • About 30% of individuals with Fragile X Syndrome have autism • 2-6% of individuals with autism have Fragile X Syndrome
  6. 6. Diagnosis • both a standard karyotype and DNA testing are suggested when a possible diagnosis of fragile X syndrome is considered. • detect the FMR1 gene. The exact number of CGG triplet repeats can be determined
  7. 7. (FXTAS) Fragile X associated Tremor and Ataxia Syndrome Adult onset Premutation: common is general population Males: 1:813 Females: 1:259 1/3 of male premutation population develop FXTAS • late-onset, progressive cerebellar ataxia and intention tremor in males who have a premutation. • Other neurologic findings include short-term memory loss, executive function deficits, cognitive decline, parkinsonism, peripheral neuropathy, lower-limb proximal muscle weakness, and autonomic dysfunction
  8. 8. FXPOI • Fragile X-Associated Primary Ovarian Insufficiency • Affects female pre-mutation carriers (55-200 CGG repeats) • Female with the full mutation do not appear to be at risk • FXPOI causes decreased ovarian function • 23% experience early menopause (prior to age 40) • 20-28% experience ovarian insufficiency • many experience decreased fertility
  9. 9. Early/ Preschool Interventions • • • • • • • • Speech and language therapy Occupational therapy Occasional physical therapy Settings with consistency, structure and routine Total communication program Visual learners Use calming, coping and comfort to help self-regulation Manage environment
  10. 10. Elementary School Interventions – – – – – – – – – – – – Speech therapy Occupational therapy Extracurricular (sports, scouts, dance, martial arts) Full inclusion with support Mainstreaming Self-contained programs Predictable routines, rules and expectations Consistent physical layout of classroom Minimize auditory distractions Picture schedule Augmentative communication computers
  11. 11. Essential update: • Clinical improvement with minocycline documented in fragile X syndrome • In a randomized crossover study of 66 children ages 3.5 to 16 years of age with fragile X syndrome, 3 months of treatment with the antibiotic minocycline • greater improvements in general behavior, anxiety, and mood-related behaviors compared with placebo. • Outcome measures including the Clinical Global Impressions-Improvement (CGI-I) scale, Visual Analogue Scale (VAS) for behaviors, and the Aberrant Behavior Checklist (ABC) were administered at baseline, 3 months and 6 months. • Other outcomes were not significantly better with minocycline, including behavior problems and verbal functioning
  12. 12. QUESTIONS THANK YOU
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