Rett Syndrome

What is Rett Syndrome?

A neurological disorder that mostly effects young girls characterised by loss of use of hands, slow brain and head growth, seizures, intellectual disability and problems with walking. Dr Rett, is an Australian physician that wrote about the disease in 1966. In 1983, Dr Hargbert, also wrote about it which then became widely known around the world.

The severity of the symptoms range from child to child, however, usually evident at a very young age. There are subtle signs of the disease at infant stage, such as difficulty feeding and loss of muscle tone.

At its most severe form, Apraxia is the most dominant feature of the disease. Apraxia is the inability to perform motor function, including limbs, eye gaze and speech.

What are the stages of the disorder?

There are four stages of Rett Syndrom. Stage I, the early onset, usually starts between 6 and 18 months of age. Symptoms of the disorder may be somewhat vague therefore easily overlooked. The infant may have no interest in playing with toys and have reduced eye contact. Gross motor skills may be delayed, such as sitting and crawling.

The rapid destructive stage is Stage II, usually starts between 1 and 4 years of age and may last for weeks or months. Its onset may be rapid or gradual as the child loses control of hand movements and speech. The characteristic hand movements continue while the child is awake but stop during sleep. Breathing irregularities may occur, although may improve during sleep. Some girls also detach themselves from other people.  Walking may be difficult and slow head growth evident.

Stage III, or the plateau or pseudo-stationary stage, present at ages 2 and 10 and can last for years. Prominent features at this stage are Apraxia, motor problems, and seizures. However, behaviour sometimes improves. Many girls remain in this stage for most of their lives.

Stage IV, or the late motor deterioration stage, can last for years or decades. Main features include reduced mobility, curvature of the spine (scoliosis) and muscle weakness. Girls who were previously able to walk may stop walking. However, cognition, communication, or hand skills generally do not decline in stage IV.

 

 

 

For More Information visit:

http://www.rettsyndrome.org

http://www.nichd.nih.gov

https://rarediseases.info.nih.gov

 

 

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