A Rare Disease Called Rett Syndrome:

Mostly girls are the victims of this brain disorder called Rett syndrome. Girls after their birth can have six to almost eighteen month spans of probable normal growth. Then they usually develop complications in learning, communication, coordination & various other brain activities. Girls affected with this ailment loose the proper use of their hands and show uncontrolled actions using their hands like repeating clapping, wringing or washing etc.They usually have small sized head & the pace of development is quite slow in comparison with other children’s. Some other problems they face are scoliosis in which the spine gets abnormally curved from one side to another, seizures, sleep problems, breathing irregularity etc.

Some of the symptoms of Rett syndrome are:

symptoms of Rett syndrome
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  • They suffers from microcephaly (unusual brain growth & small sized head). As the child gets older stunted development becomes more distinct.
  • Most of the patients suffering from this syndrome, forget the use of their hands. They are more likely to use their both hands simultaneously to rub or to write.
  • In between the ages one to four their language as well as social skills begin to show a downturn. They usually develop excessive social anxiety & stop talking.
  • Because of problematic muscle coordination their walking style can appear quite wired.
  • You can notice hyperventilation (taking very fast breaths), seizure, strong exhaling of air or even saliva, deglutition of air & uncoordinated breathing.
  • As they grow older they become more irritated & tense too. You can notice long spells of laughter or even longer spells of crying among them.

Causes:

  • Mostly Rett syndrome cases occurs as an outcome of a mutation of genes that happen in a non-regular manner. In rare cases children can inherit this disease from their parents.
  • In most of the occurrences among children, it has been found that the mutation of MECP2 genes is mainly responsible. It has also been found that other activities like duplications and deletions or mutation happening in other genes like STK9 or CDKL5 are also responsible for the occurrence of this disease.
  • A protein called MeCP2 that is essential for the proper growth of the human brain is generated by the gene MECP2. MeCP2 balances the other genes in our brain, by enhancing the action of the spare genes & informing then when to put off & freeze the manufacturing of their own exclusive protein.
  • It has been found that in most children the mutation on the X chromosome leads to Rett syndrome. However what is not clear is the mechanism that leads to bringing in the Rett Syndrome.Some researchers have said that a single gene often impacts other genes that are essential for brain development.

Diagnosis/ Treatment:

Diagnosis/ Treatment
Image by: U.S. Embassy Tel Aviv

Irrespective of age an early well timed intervention can always give you a nice result. People with this problem can perform in community & school activities with assistance as well as with therapy too. There are various options for treatments that are available, a list is as follows:

Medication:

  • Controlling seizure
  • Relieve from constipation as well as indigestion
  • Reducing ailments like unusual heart beats.
  • Lowering of breathing trouble.

Occupational Therapy:

  • Coaching activities like feeding & dressing (self-directing actions).
  • Promote the use of their hands & maintain that improvement.
  • Try to lower the typical hand activities like clapping, tapping, washing, rubbing etc.

Physical Therapy/Hydrotherapy:

  • Lower limbs as well as back
  • Maintaining or even enhancing balance & mobility.
  • Patients with an unusual curvature of spine (scoliosis) can have weight bearing training.

Feeding Assistance:

  • For patients who by mistake often swallow their bite which in turn goes into the lungs, introduction of a feeding tube is a viable option.
  • Make their bones strong, provide minerals & calcium, it can also resist scoliosis.
  • For improving weight as well as height, provide high fat content foods along with high calorie meals.

Speech-Language Therapy:

  • Enhancing social interactions.
  • Coach them in nonverbal interaction process.

Physical Assistance:

  • For correcting scoliosis go for surgery or braces

For adjusting hand movements, go for splints.

Featured Image by: U.S. Embassy Tel Aviv

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