Rett syndrome a rare incurable disorder essay

Most affected individuals may develop dystonia, a condition characterized by sustained muscle contractions associated with abnormal, uncontrolled movements and postures. Symptoms of Rett syndrome: Affected people then exhibit a characteristic finding of Rett syndrome, the development of stereotypic hand movements including hand wringing or squeezing, clapping, rubbing, washing, or hand to mouth movements.

These treatments generally aim to slow the loss of abilities, improve or preserve movement, and encourage communication and social contact. Intellectual disability in Rett syndrome is difficult to access because of the inability to speak or use hands.

Irritability, crying and restlessness may be seen. The parents also placed him back on his medications, hallelujah. This stage usually lasts for a few months but can continue for more than a year.

Scientists know that lack of a properly functioning MECP2 protein disturbs the function of mature brain cells but they do not know the exact mechanisms by which this happens.

Rett syndrome

Some researchers suggest that the specific type of mutation in the MECP2 gene affects the severity of symptoms of Rett syndrome. Mechanism[ edit ] Pontine noradrenergic deficits[ edit ] Brain levels of norepinephrine are lower in people with Rett syndrome [23] reviewed in [24].

And children should continue these treatments for their entire life. For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database. Abnormalities in MECP2 have been detected in boys with an infantile encephalopathy, as well as mental retardation.

Investigational Therapies Information on current clinical trials is posted on the Internet at www. Rett syndrome is a developmental disability disorder resulting in severe mental and physical deficits in female children Sullivan, That is, it is not inherited from either parent.

This stunted growth becomes clearer as the child gets older. It was not until after a second article about the disorder, published in by Swedish researcher Dr. With the work I had done with that certain boy made me want to look at another disorder that was similar to autism.

Rett syndrome is estimated to affect one in every 10, to 15, live female births and in all racial and ethnic groups worldwide. Is Rett syndrome a subtype of pervasive developmental disorders? For example, genes that should be silenced or turned off will remain active at certain times during development, ultimately leading to impaired brain development.

This connection is involved in the tight modulation of motor strategies computed by a cortico-basal ganglia- thalamo-cortical loop.

Individuals at risk of prolonged QT interval should be evaluated by cardiology. Children with Rett syndrome also tend to become tense and irritable as they get older. Although Rett syndrome is genetic, children almost never inherit the faulty gene from their parents. The fulfillment of these diagnostic criteria can lead to a clinical diagnosis of Rett syndrome.General Discussion.

Rett Syndrome: What to Know

Summary. Rett syndrome is a progressive neurodevelopmental disorder that almost exclusively affects females.

Rett Syndrome

Only in rare cases are males affected. Rett Syndrome Handbook. Called the “Rett Syndrome Bible”, all the information you need for your journey- available in PDF version. Purchase a hard copy. Rett syndrome is a rare, severe neurological disorder that affects mostly girls. It's usually discovered in the first two years of life, and a child's.

Rett Syndrome Essay Sample

It is important to note that Rett syndrome is the only disorder on the autism spectrum with a known genetic cause; 95% of females diagnosed with Rett syndrome in the United States have a mutation of the MECP2 gene. Rett syndrome is a developmental disability disorder resulting in severe mental and physical deficits in female children.

Rett syndrome is grouped as a pervasive developmental disorder (PDD) in which conditions are severe and pervasive, and that begin in early life and influence multiple areas of development.

Rett Syndrome Essay Sample. Abstract Rett syndrome is considered one of the autism spectrum disorders. Rett syndrome is a developmental disability disorder resulting in severe mental and physical deficits in female children.

Rett syndrome a rare incurable disorder essay
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