Rett Syndrome

Autism spectrum disorders are a spectrum of psychological conditions that are characterized by widespread abnormalities of social interactions and communication along with severely restricted interests and repetitive behavior. A study performed in 2005 revealed that anywhere from 6.0-6.5 people per 1,000 people have Autism Spectrum Disorder. The vast majority of the people in the study had pervasive developmental disorder not otherwise specified (PDD-NOS). Autism was 1.3 per 1,000 people and Asperger Syndrome was 0.3 per 1,000 people in the study released in 2005. The rarer forms in the study were childhood disintegrative disorder and Rett syndrome.

There are three main forms of Autism Spectrum Disorder and they are autism, Asperger syndrome, and PDD-NOS. The signs and symptoms of Autism Spectrum Disorder include communication problems, social problems, and repetitive behaviors. The indicators of autism include children that do not babble, point, or make gestures by the age of one; do not speak one word by 16 months; does not combine two words by two years old; does not respond to his or her name; loses language or social skills; poor eye contact; doesn’t know how to play with toys; excessively lines up toys or other objects; is attached to one toy or object; doesn’t smile and at times seems to be hearing impaired.

There are four main problems that are associated with Autism Spectrum Disorder and they are sensory problems, mental retardation, seizures, fragile X syndrome and tuberous sclerosis. The sensory problems that develop in children with ASD can be devastating. The sounds, smells, and textures that most children are not bothered by will bother children with ASD. For example, a ringing telephone or thunder during a storm can cause a child with ASD to scream and throw a hissy fit. In children with ASD, the brain does not know how to balance the senses appropriately.

Mental retardation is prominent in some children with ASD. For example, some children with ASD might have trouble with their vision but are able to express themselves via language much easier. Seizures can develop in children with ASD. In fact, one in four children with ASD will develop seizures that begin in early childhood or adolescence. Seizures are caused by abnormal electrical activity in the brain. A seizure can be identified by a body convulsion, unusual movements, or staring spells. A contributing factor of seizures can be a lack of sleep or a high fever.

Fragile X syndrome is the most common inherited form of mental retardation. The name comes from one part of an X chromosome appearing pinched and fragile when it is examined under a microscope. Roughly two to five percent of children with ASD are affected by fragile X syndrome. Any child with ASD should be checked for fragile X syndrome. If a couple that has a child with fragile X syndrome wants to have another child, the next child could be born with the same syndrome if it is a male. There is a one in two chance that this can happen. Tuberous sclerosis causes benign tumors to grow in the brain and other vital organs. Anywhere from one to four percent of children with ASD have tuberous sclerosis.

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Rett syndrome is a neurodevelopmental disorder that is classified as a pervasive developmental disorder by the DSM-IV. Many argue that this is a misclassification just as it would be to include such disorders as fragile X syndrome, tuberous sclerosis, or Down syndrome where one can see autistic features. The symptoms of this disorder are most easily confused with those of Angelman syndrome and autism. The clinical features include a deceleration of the rate of head growth (including …

Help answer the question about Rett Syndrome

Im doing a paper on Rett Syndrome and would like to ask some questions.?
1.) How does the problem with the DNA affect the function of the cell?
2.) How is protein synthesis affected?
3.) What symptoms do the victims of the disorder experience?

I am looking to interview someone that knows someone with Rett Syndrome.

Thank you.

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