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Rett Syndrome

The Hope Lies in the Research

  • 1999; Huda Zonghbi discovered a mutation the in MECP2 gene causes Rett Syndrome
  • It is a genetic mutation on the X chromosome
  • MECP2 mutations are seen in other disorders, so to be diagnosed the mutation must be confirmed with a blood test and the child must fulfill the diagnostic criteria

Stages in Rett Syndrome

  • Stage One: Early Onset
  • Between 6 and 18 months of age
  • Symptoms often confused with other disorders
  • Less eye contact and a loss of interest in toys
  • Sitting, walking, and crawling are all delayed and sometimes never develop
  • Stage Two: Rapid Destruction Stage
  • Between ages 1 and 4
  • Purposeful hand skills and ability to speak will drastically diminish
  • Difficulty breathing and slower head growth are noticed during this stage
  • If the child has gained the ability to walk, it will be shaky and unsteady

What is Rett Syndrome?

Stages in Rett Syndrome (cont)

  • Postnatal neurological disorder
  • Almost always seen it girls, very rare to see in boys
  • Development begins to slow around 6 to 18 months of age
  • Loss of purposeful use of hands, distinct hand movements, reduced growth of head, difficulty walking, seizures, and Intellectual Disability are all common factors of Rett Syndrome
  • Not a degenerative disorder
  • Stage Three: Plateau/Pseudo-Stationary Stage
  • Between ages 2 and 10
  • Apraxia, seizures, and other motor problems are common
  • Behavior will sometimes improve, showing less autistic-like symptoms
  • Communication, alertness, and attention span may improve
  • Most girls remain in this stage for the remainder of their lives
  • Stage Four: Late Motor Deterioration Phase
  • Lasts for years or decades
  • scoliosis, muscle weakness, rigidity, abnormal posture of limbs are common
  • Some girls may lose ability to walk
  • Communication and hand skills generally do not decline

The Hope Lies in the Research

  • In 2001, the first genetic animal model was made
  • Scientists implanted the genes in mice

The Hope Lies in the Research

  • 2007, Professor Adrian Bird reversed the models of late stage Rett Syndrome
  • This discovery mate Rett Syndrome the first children's brain disorder to be reversed in the lab
  • More money is needed for further research

Rett Syndrome in the Public Eye

Treatment & Cure

In Recent Years

  • In the UK, the Rett Syndrome Charity was formed
  • Since their formation in 2010, they have successfully raised over 2 million dollars
  • There is no treatment for Rett Syndrome at this point in time
  • Families with daughters who suffer from Rett Syndrome have to learn to live with the disease and try establish as sense of normalcy in the child's life
  • Speech and physical therapy can help with activities in daily life
  • Parents should let their daughter be as independent as she can, but in most cases there is little they can do on their own
  • Medication can help some with muscle movements and seizures

Last year, a campaign launched featuring 12 girls with Rett Syndrome telling their stories to help raise awareness

Daily Life

  • Girls diagnosed with Rett Syndrome often do not attend school
  • Nutritional and breathing problems are very common symptoms of this disorder and must be closely monitored
  • These reasons are often the causes of death in patients with Rett Syndrome
  • Girls with Rett Syndrome generally live to their 30s or 40s
  • Boys with Rett Syndrome often die within one year

But again, this disease is the first to show progress in lab testing, so awareness and funding is crucial to transfer the findings over to humans.

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