Rett Syndrome is considered to be a developmental disease, as it does not cause the brain to degenerate, but interferes with the maturation of certain areas, including the frontal, motor, and temporal cortex, which contains the brain stem, basal forebrain, and basal ganglia. (Turkington, Anan 2006). Because of this, people with Rett Syndrome have a loss of purposeful hand skills and mobility. People with Rett Syndrome experience permanent impairment and cognitive disabilities. They also experience breathing difficulties such as hyperventilation, breath holding and air swallowing. People with Rett Syndrome often show autistic-like behaviors at a young age, but enjoy affection and prefer people to objects, whereas people with autism prefer objects to humans. Children with Rett Syndrome often walk on their toes, have sleep problems, grind their teeth and often have troubles chewing.
Those with Rett Syndrome often show symptoms of apraxia, a fundamental and severely handicapping feature that interferes with all types of mo...
... middle of paper ...
...one is active in any given cell. This means that only a portion of the cells in a girl’s nervous system will actually have the defective Rett gene. The severity of a case is based on the percentage of their cells that express a normal copy of the MECP2 gene.
Subsequently, boys have only one X chromosome; therefore lack a substitute copy that could compensate for the defective one. Ultimately, they have no defense against the effects of the disorder, making it much more deathly than it is for girls (NINDS 2009). Boys with this defect normally do not show the common symptoms of the disorder, but will experience sever problems when they are first born. The condition becomes much more fatal in boys and they typically do not survive past birth.
Almost sixty years later, scientists are still doing research to find a cure for the female oriented disorder, Rett Syndrome.
Need Writing Help?
Get feedback on grammar, clarity, concision and logic instantly.Check your paper »
- The symptoms and characteristics of Rett syndrome can vary from child to child, depending upon the severity of their condition. The characteristics become apparent at a very young age, in fact, noticeable differences in the child’s development show up between the ages of 6 to 18 months. These children are the product of a normal pregnancy and delivery, and have normal development for the first 5 to 6 months of life. It is at this time that her parents will begin to notice a slowing in development.... [tags: Education, Communication, Saccade]
1863 words (5.3 pages)
- ... Apraxia restricts eye gaze and speech, and because of it as well as a deficiency in verbal communication skills, an accurate assessment of intelligence is difficult. (Turkington, Harris 2006). Most children are normal and healthy until about 6-18 months of life, when the symptoms begin to develop. As the damage to the nervous system begins to worsen, the child begins to lose their ability to speak, begins to have trouble walking or crawling and is shaken by seizures. Along with a loss of speaking abilities, the child has a lessened ability to express feelings.... [tags: symptoms, history, treatment, common]
1234 words (3.5 pages)
- Investigation of the Cause and Challenges of Rett Syndrome Introduction Rett Syndrome (RTT) is a neurodevelopment disorder and one of the most common causes of mental retardation in females, with a incidence of 1 in 10,000-15,000 . Classic RTT patients appear to develop normally for the first 6-18 months of their lives, then gradually have a regression in speech and purposeful hand use leading to disease developments such as autism, microcephaly, ataxia, seizures and stereotypic hand movement .... [tags: neurodevelopment disorder]
2466 words (7 pages)
- Pervasive Developmental Disorders are characterized by “severe and pervasive impairment in several areas of development” (Tsai, 1998). In the 1994 edition of the Diagnostic Statistic Manuel version IV, three new categories were introduced under Pervasive Developmental Disorders. These include: Childhood Disintegrative Disorder, Asperger's Disorder, and Rett's Syndrome (Volkmar, 2005). All these disorders occur in early childhood and are often not noticed by a parent or primary caregiver until it is noticed that the child is not achieving normal developmental milestones.... [tags: Pervasive Developmental Disorders]
1414 words (4 pages)
- Asperger’s Syndrome is a developmental disorder belonging to a family of disorders known as Autism Spectrum Disorder, or more commonly as just Autism. Asperger’s Syndrome is named for Austrian pediatrician Hans Asperger. Asperger studied four children in his practice who exhibited the signs of the disorder that now bears his name. His findings, while published in 1944, were essentially unnoticed until 1981when Dr. Lorna Wing published a series of case studies of children who exhibited the same signs as Dr.... [tags: Disease/Disorders]
1490 words (4.3 pages)
- Autism is a developmental disorder that starts during early childhood. There are many symptoms associated with autism, but impairment of social skills is usually the leading symptom. As there are multiple symptoms, there are also multiple categories of the disorder. It is a spectrum, as opposed to a specific disease with the same symptoms in every person. Some children are diagnosed early in their lives, while some are diagnosed later, or not even at all. Autism is a lifelong disease that can make life difficult for both the patient and their families.... [tags: Autism, Asperger syndrome]
1185 words (3.4 pages)
- Autism Spectrum Disorder (ASD) Describe the etiology of the disorder. Autism Spectrum Disorder is considered a developmental disorder. Two examples under ASD include Autism and Asperger’s syndrome. Autism was first identified in 1943 and in 1971 was differentiated from schizophrenia. The prevalence of autism include 1 in 100 children, 80% are boys and the age of onset is younger than 3 years olds whereas for Asperger’s syndrome it is estimated from 1 to 50 per 10,000 (Gulati, Lynall, & Saunders, 2013).... [tags: Autism, Asperger syndrome]
1255 words (3.6 pages)
- Autism Spectrum Disorder is a developmental disorder that affects the primarily the social skills of a diagnosed patient. Often times they seem to isolate themselves from others or are seemingly unable to understand social interactions. Autism Spectrum Disorder is a relatively new disorder in the realm of psychology. Since the disorder is still being researched and more things about it are being discovered everyday, Autism is a difficult disorder to treat. One of the most common treatments used, especially for school aged children is social skills training and other training given in schools Before discussing the treatments, it is good to get an understanding of the disorder.... [tags: Autism, Asperger syndrome]
1381 words (3.9 pages)
- Autism Spectrum Disorder Definition Autistic spectrum disorder is a prevalent developmental disability categorized by extreme withdrawal, cognitive deficits, language disorders, self-stimulation, and has an onset before the age of 30 months. There are five similar autistic spectrum disorders: Autism, Asperger syndrome, Rett syndrome, child disintegrative disorder, and pervasive developmental disorder (not otherwise specified). These five disorders all encompass varying degrees of problems with communication skills, social dealings, and repetitive and stereotyped patterns of behavior.... [tags: Autism, Autism spectrum, Asperger syndrome]
1698 words (4.9 pages)
- Autism, sometimes referred to as autism spectrum disease, is a non-curable developmental disability. Most commonly, autism is present between birth and three years of age. While there is no one specific cause of autism spectrum disease, the general cause has been discovered to be closely related to abnormalities in the way the in which the brain is structured and functions. In past research, when compared to children with “normal” brains, often referred to as neurotypical, children who have autism exemplify differences in brain shape and structure.... [tags: Autism, Asperger syndrome, Autism spectrum]
1004 words (2.9 pages)