Rett Syndrome by Caroline Do [Student FVHS] https://padlet.com/cndo101/n0nmwq93pwai Today we are going to be talking about Retts Syndrome! By Caroline Do, Sabrina Wells, Richard Medina-Armenta en-us 2018-10-26 15:27:46 UTC 2025-11-23 20:58:53 UTC hello@padlet.com https://padlet-assets.s3.amazonaws.com/icons/Apple.png Rett Syndrome rjmedinaarmenta100 https://padlet.com/cndo101/n0nmwq93pwai/wish/298103360 Rare genetic neurological and developmental disorder that affects the way the brain develops, causing a progressive loss of motor skills and speech. 

This disorder primarily affects girls because it is in the X chromosome. Causes of Rett Syndrome has not been fully understood but scientists do know the genetic mutation occurs in the MECP2 gene and becomes problematic for the protein production the brain.]]> 2018-10-29 16:01:30 UTC https://padlet.com/cndo101/n0nmwq93pwai/wish/298103360 skwells100 https://padlet.com/cndo101/n0nmwq93pwai/wish/298112579 2018-10-29 16:14:50 UTC https://padlet.com/cndo101/n0nmwq93pwai/wish/298112579 skwells100 https://padlet.com/cndo101/n0nmwq93pwai/wish/298113098 2018-10-29 16:15:34 UTC https://padlet.com/cndo101/n0nmwq93pwai/wish/298113098 Personal Story from Julie Shaffer and her daughter Lucy cndo101 https://padlet.com/cndo101/n0nmwq93pwai/wish/298114156 Julie, a mother of a Rett Syndrome case, has recently shared her story (2015) and talks about the gains and losses of the birth defect. The first years of diagnosis, Lucy lost basic functions of sitting, eating and breathing became more irregular. She had to be fed through a feeding tube and lost a tremendous amount of weight, Julie admits it was hard for everyone in the family. But one thing she can’t deny is that Lucy became one of the strongest and bravest people she had ever met. With the help of a specialist, Lucy learned to communicate through nodding or certain eye gazes. Lucy is still able to love things like any other child, like swimming, Barbies, painting and many more. Every day is a surprise for Julie but she learned to be grateful for the things Lucy is able to do. Julie shares how people get judgemental at times and don’t look at Lucy for who she is, but rather a monster living inside her body. She also wished to know how hard but joyous life can be at the same time. 

]]> 2018-10-29 16:17:05 UTC https://padlet.com/cndo101/n0nmwq93pwai/wish/298114156 Cures/Treatments: skwells100 https://padlet.com/cndo101/n0nmwq93pwai/wish/298120111
  • No cure to this syndrome because it is a genetic mutation, irreversible.
  • Symptoms of muscle difficulty and breathing issues can be helped through physical therapy.
    • ]]>     2018-10-29 16:26:34 UTC https://padlet.com/cndo101/n0nmwq93pwai/wish/298120111     Symptoms rjmedinaarmenta100 https://padlet.com/cndo101/n0nmwq93pwai/wish/298122384
  • Muscles- muscle contractions, stiffness, and struggle on how to use muscles
  • Speech - loss of communication skills
  • Movement - loss of control over hands. Having seizures and difficulty breathing.

    • ]]>     2018-10-29 16:30:03 UTC https://padlet.com/cndo101/n0nmwq93pwai/wish/298122384     Research Plan cndo101 https://padlet.com/cndo101/n0nmwq93pwai/wish/298335015 3 year plan which costs $33 million. Through gene therapy, we can deliver in healthy genes of the MECP2 gene to balance out or replace the mutated ones. There has been great improvement in mouse models which proves it could be more successful than drugs in humans. 

    Another plan is MECP2 reactivation. Females have 2 copies of the MECP2 gene but the healthy gene is inactive while the mutated gene is active which makes defective protein in almost half of the cells in the body. So we just have to find a way to wake up the healthy gene.]]>     2018-10-30 02:40:15 UTC https://padlet.com/cndo101/n0nmwq93pwai/wish/298335015     Works Cited cndo101 https://padlet.com/cndo101/n0nmwq93pwai/wish/298335113 University of Bristol. “New Drug Offers Hope for Devastating Childhood Disease.” April: Rett Syndrome Research | News | University of Bristol, University of Bristol, 9 Apr. 2014, www.bristol.ac.uk/news/2014/april/rett-syndrome-research.html.

    “Rett Syndrome.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 11 Oct. 2018, www.mayoclinic.org/diseases-conditions/rett-syndrome/symptoms-causes/syc-20377227.

    “Rett Syndrome.” Touched by Autism, knowautism.weebly.com/rett-syndrome.html#/.

    “Roadmap to a Cure | RSRT.” Rett Syndrome Research Trust, reverserett.org/cure/.

    Shaffer, Julie. “I Wish I'd Known All This the Day My Daughter Was Diagnosed With Rett Syndrome.” The Mighty, themighty.com/2015/01/i-wish-id-known-all-this-the-day-my-daughter-was-diagnosed-with-rett-syndrome/.


    ]]>     2018-10-30 02:40:57 UTC https://padlet.com/cndo101/n0nmwq93pwai/wish/298335113     Stages of Rett Syndrome skwells100 https://padlet.com/cndo101/n0nmwq93pwai/wish/298341358
  • Stage 1, between 6-18 months - early onset: the signs are usually overlooked which are, difficulty crawling and writing as well as less intact with toys and playing.
  • Stage 2, between 1-4 years - rapid deterioration: Symptoms of Rett Syndrome become stronger which include slowed physical growth, tantrums and difficulty socializing and communicating.
  • Stage 3, between 2-10 years - plateau: Seizures begin to occur in this stage, and problems with movement persist. However, there is less crying and irritability seen. 
  • Stage 4, after the age of 10 - late motor deterioration: Muscles become weaker, and scoliosis is seen. Seizure occurrence is decreasing, and communication and understanding may improve slightly and remain stable.

    • ]]>     2018-10-30 03:18:19 UTC https://padlet.com/cndo101/n0nmwq93pwai/wish/298341358     Notes Outline: skwells100 https://padlet.com/cndo101/n0nmwq93pwai/wish/298342608                                         Retts Syndrome Notes
                            By: Sabrina Wells, Caroline Do, Richard Medina
    What:
    Causes:
    Scientific research (stages of Rett Syndrome)
    1. Stage 1, between ___ - ___ months - ________________: 

    1. Stage 2, between ___ - ___ years - _______________________: 

    1. Stage 3, between ___ - ___ years - ____________: 

    1. Stage 4, after the age of ___ - ____________________: 

    Symptoms: 
    1. Muscles - 
    2. Speech - 
    3. Movement - 
    Treatments: 

    •  
    Personal story from Julie Shaffer and her daughter Lucy:
    Julie, a mother of a Retts Syndrome case, has recently shared her story (2015) and talks about the gains and losses of the birth defect. The first years of diagnosis, Lucy lost basic functions of __________, ___________ and ______________ became more irregular. She had to be fed through a feeding tube and lost a tremendous amount of weight, Julie admits it was hard for everyone in the family. But one thing she can’t deny is that Lucy became one of the strongest and bravest people she had ever met. With the help of a specialist, Lucy learned to communicate through _______________ or certain ______________. Lucy is still able to love things like any other child, like swimming, Barbies, painting and many more. Every day is a surprise for Julie but she learned to be grateful for the things Lucy is able to do. Julie shares how people get judgemental at times and don’t look at Lucy for who she is, but rather a monster living inside her body. She also wished to know how hard but joyous life can be at the same time. 
    ]]>     2018-10-30 03:27:31 UTC https://padlet.com/cndo101/n0nmwq93pwai/wish/298342608     skwells100 https://padlet.com/cndo101/n0nmwq93pwai/wish/298564096 2018-10-30 15:22:26 UTC https://padlet.com/cndo101/n0nmwq93pwai/wish/298564096 skwells100 https://padlet.com/cndo101/n0nmwq93pwai/wish/298564739 2018-10-30 15:23:17 UTC https://padlet.com/cndo101/n0nmwq93pwai/wish/298564739