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Rette syndrome final
- 1. Roshan
- 2. Rare genetic severe neurological disorder Mostly affects females Incidence: 1 in 12,000 girls born each year
- 3. Dr.Andreas Rett first recognised it more than fifty years ago……… Bengt Hagberg, planned the publication of article about the Rett sydrome in a widely read English newsapaper Annals of Neurology(1983) described about the complete work about Rett syndrome 1999- Discovery of mutation in MECP2 gene
- 5. Described in 4 stages however may overlap between stages Age of appearance of symptoms varies from child to child. But most commonly appears when the baby is at age between 12 to 18 months.
- 7. Stage 1- Early signs Stage 2- Regression Stage 3- Plateau Stage 4- Deterioration in movements
- 8. Low muscle tone (hypotonia) Difficulty feeding Unusual, repetitive hand movements or jerky limb movements Delay with development of speech Mobility problems, such as problems sitting, crawling and walking Lack of interest in toys
- 9. Loss of the ability to use the hands purposefully Social withdrawal Unsteadiness and awkwardness when walking Problems sleeping Slowing of head growth Difficulty eating, chewing or swallowing Air swallowing
- 10. Seizures Irregular breathing patterns may get worse Teeth grinding Heart rhythm abnormalities Improvements in symptoms appeared in stage 2
- 11. Development of a spinal curve(Scoliosis) Muscle weakness and spasticity Losing the ability to walk
- 12. Done based on pattern of symptoms and behavior Rule out other conditions like autism spectrum disorder cerebral palsy metabolic disorders prenatal brain disorders. Genetic blood test is useful is identifying mutation in MECP2 gene
- 13. Symptomatic treatment Standard medical care and medication Physical therapy Speech therapy Occupational therapy Good nutrition Behavioral therapy Supportive services