Rett syndrome: Unusual genetic ailment

Rett syndrome is categorized as a rare genetic syndrome that results in developmental and nervous system problems, mainly hit to girls. It is related to autism spectrum disorder. Kids who grip in Rett syndrome grow and develop normally in the beginning. Between 3 months and 3 years of age, their growth is stopped and even lose some abilities. Rett syndrome is reported to exist on all the populated continents.

In most of the cases, Rett syndrome are caused by a mutation in the methyl CpG binding protein 2, or MECP2 (pronounced meck-pea-two) gene.

Children who suffer Rett syndrome exhibit array of symptoms that include loss of hand movements such as grasping, compulsive movements such as hand wringing. They have balance problems, breathing problems, behaviour problems, learning problems or intellectual disability.

Physicians clinically diagnose Rett syndrome through constantly observing signs and symptoms during the child's growth in initial stage of life cycle and conduct ongoing evaluations of the child's physical and neurological status.  There is a genetic test developed by medical scientists to perform thorough clinical diagnosis, which involves examining for the MECP2 mutation on the child's X chromosome. 

Presently, Rett syndrome has no treatment options.  Treatment for the disorder is symptomatic such as focusing on the management of symptoms and supportive, requiring a multidisciplinary approach.  Child needs medication for breathing irregularities and motor problems, and anticonvulsant drugs may be used to control seizures. 

To summarize, Rett syndrome is an advanced neurodevelopmental disorder that greatly affects girls.  It is pigeonholed by normal growth in early stage and development. After that child’s growth slows down and there is loss of purposeful use of the hands, distinctive hand movements, decelerated brain and head growth, problems with walking, seizures, and intellectual incapacity. Since this syndrome has no cure therefore good management of symptoms improves the lifestyle of child.

Important: This article is developed through environmental information, academic experience and personal view of writer. Writer is not responsible for any disagreement.