https://padlet.com/kate_kane1/3q0t4vukch9h en-us 2019-02-25 14:15:07 UTC 2025-10-28 04:24:16 UTC hello@padlet.com https://padlet-assets.s3.amazonaws.com/icons/Clouds.png kate_kane1 https://padlet.com/kate_kane1/3q0t4vukch9h/wish/334854584 What is Rett syndrome?
        Rett syndrome is a post natal neurological disorder of the grey matter of the brain. This is a progressive neurodegenerative disease, resulting in severe mental and physical disability.
This disorder is apparent from birth and affects females mostly. There are very few cases in which it affects the male population.


]]> 2019-02-25 14:19:38 UTC https://padlet.com/kate_kane1/3q0t4vukch9h/wish/334854584 kate_kane1 https://padlet.com/kate_kane1/3q0t4vukch9h/wish/334855863
*slowed growth of the brain
*loss of normal movement and co-ordination
*loss of communication abilities 
*abnormal hand and eye movements 
*breathing problems 
*irritability and crying ]]> 2019-02-25 14:21:46 UTC https://padlet.com/kate_kane1/3q0t4vukch9h/wish/334855863 kate_kane1 https://padlet.com/kate_kane1/3q0t4vukch9h/wish/334861669 Rett syndrome is caused by the genetic mutation in the methyl-CpG-binding protein-2 gene(MECP2)
Gene number 300005 
Inheritance = XLD (This means the gene is X linked dominant)
Location = Xq28]]> 2019-02-25 14:31:24 UTC https://padlet.com/kate_kane1/3q0t4vukch9h/wish/334861669 kate_kane1 https://padlet.com/kate_kane1/3q0t4vukch9h/wish/334864079 Rett syndrome gene]]> 2019-02-25 14:35:42 UTC https://padlet.com/kate_kane1/3q0t4vukch9h/wish/334864079 isabel_elswood https://padlet.com/kate_kane1/3q0t4vukch9h/wish/334864179 Research into the disorder had traced the cause to mutations in the gene for methyl-CpG-binding protein 2 (MeCP2)a protein found in tissues throughout the body that regulates many target genes by repressing their activity. The gene for MeCP2 can be found on the X chromosome, which is why females, with two X chromosomes, are far more likely to suffer from RTT than are males.]]> 2019-02-25 14:35:51 UTC https://padlet.com/kate_kane1/3q0t4vukch9h/wish/334864179 isabel_elswood https://padlet.com/kate_kane1/3q0t4vukch9h/wish/334875385 There are no cures for Rett Syndrome, however there are many treatments for the disorder which can help relieve some of the struggles that come with the disorder of Rett Syndrome.

 - gastrointestinal and nutritional management. 
 - observation of scoliosis and  other coupled conditions that come with Rett syndrome such as long QT syndrome.
- increasing communication skills , especially when augmented communication is needed in more developed Rett syndrome.]]> 2019-02-25 14:52:16 UTC https://padlet.com/kate_kane1/3q0t4vukch9h/wish/334875385 kate_kane1 https://padlet.com/kate_kane1/3q0t4vukch9h/wish/334876224 Neul eat al. 2010 suggested a diagnosis criteria due to not everyone who has the MECP2 mutation has Rett syndrome and not all patients that have Rett syndrome have the MECP2 mutation.

There are many symptom features that are followed for diagnosis. Deceleration of head growth is now no longer a necessary feature for diagnosis. The most important feature for diagnosis is a period of clear developmental decline followed by limited stability and recovery.]]> 2019-02-25 14:53:37 UTC https://padlet.com/kate_kane1/3q0t4vukch9h/wish/334876224 kate_kane1 https://padlet.com/kate_kane1/3q0t4vukch9h/wish/334882879 Many cases of RTT are Radom and not a case of inheritance. 
Zoghbi et al. reviewed 6 pairs of concordantly affected monozygotic twins and 4 families with 2 affected sisters and 2 families with 2 affected half sisters. They found that the affected half sisters had the same mother. Since the mothers are the carrier, it explains why the condition is X dominant ]]> 2019-02-25 15:03:48 UTC https://padlet.com/kate_kane1/3q0t4vukch9h/wish/334882879 isabel_elswood https://padlet.com/kate_kane1/3q0t4vukch9h/wish/334890768 2019-02-25 15:14:57 UTC https://padlet.com/kate_kane1/3q0t4vukch9h/wish/334890768