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Rett Syndrome Research Paper

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Rett Syndrome, a rare, non-inherited, genetic, neurodevelopmental disorder. It exclusively affects girls as young as six months. An Austrian doctor by the name of Andreas Rett originally described the disorder in a journal article in the year 1966. The disorder was not recognized as a disorder until the year 1983, when a Swedish researcher by the name of Dr. Bengt Hagberg published the disorder.
Rett Syndrome almost always affects girls; it is rarely seen in boys. The disease is a mutation of the X chromosome on a gene named methyl-CpG-binding protein 2 or MeCP2. Although MeCP2 is a genetic mutation, the defective gene is never inherited from the parents. The MeCP2 gene generates a multi-functional protein necessary in the development of the nervous system, especially the brain. Rett Syndrome affects the brains functions causing an impact on learning, speech, sensory sensations, mood, breathing, cardiac function, as well as chewing, swallowing and digestion. Female offspring have two X chromosomes; the child survives because the extra X chromosome she has is normal enough, whereas male offspring are born with one X chromosome. If a male offspring is diagnosed with this defective gene the results are usually fatal. …show more content…

Rett Syndrome is generally misdiagnosed as Autism and/or Cerebral Palsy. Doctors will use a highly specific criteria guideline to diagnose Rett Syndrome; it includes all signs and symptoms. The criteria usually consist of the Diagnostic and Statistical Manual of Mental Disorders or DSM. The child will have to receive ongoing physical and neurological evaluations. She will have to see numerous physicians. The physicians will use three types of clinical criteria: main, supportive, and exclusion. Scientists have developed a genetic test to complement the clinical diagnosis, which involves searching for MeCP2 on the child X chromosome. DNA testing is usually recommended to confirm diagnoses of Rett

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Later it was discovered that it was the result of an extra copy of chromosome 21. The nondisjunction that results in an extra copy of chromosome 21 occurs during anaphase I in meiosis I. The genetic mutation is trisomy 21 (3 copies of chromosome 21). The characteristic phenotypic occurrences that are distinct to the disorder: poor muscle tone, stout neck, flat face, small head, mouth, and ears, eyes slanting upwardly, Brushfield spots, and stout fingers and

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Of course, the condition will most likely involve a heart problem, which is discovered at birth, along with a webbed neck, chest deformities, many birth marks, also known as café-au-lait spots, and a short stature. The features of this syndrome are not fully known, considering the fact that there are numerous characteristics and no two infected individuals have the same exact features. Like in most other disease cases, there are lists of more minor symptoms that can occur in an individual. In infants and newborns, feeding problems are present, due to a poor sucking reflex. Behavioral problems and developmental delays can occur, which causes the individual to achieve milestones slower, such as sitting and walking.

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Romayn Acasuzo is a 5-year-old boy who was born at 39 weeks. Romayn achieved early developmental motor milestones within expected age ranges such as sitting up at 6 months and walking at 13 months, however, Romayn’s mother began to notice decreased socialization skills, behavior difficulties and speech delays. Romayn was diagnosed with Autism Spectrum Disorder (ASD). Autism spectrum disorder (ASD) is a neurodevelopmental disorder that impairs a child's ability to communicate and interact with others. ASD is characterized by impaired social interaction and communication, repetitive and stereotyped patterns of behavior, and uneven intellectual development, often with intellectual disabilities.

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Symptoms include: Wide-set eyes Microcephaly: technical term for a small head Low-set ears Epicanthic folds: extra folds of skin on the eyelid Palmar creases (also called a simian crease) High pitched ‘cat cry’ primarily during infancy Hypotonia during infancy Hypertonia in later years Difficulty swallowing Intellectual disability Language development problems Short attention span Hyperactivity and other behavior problems Symptoms that are likely to accompany but are not symptoms for a diagnosis are heart defects, cleft palate and lip, skeletal problems generally in the lower body, and digestive problems. These symptoms may not be harmful or even much of a hassle themselves but can lead to other problems that do cause suffering.

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Both are caused by various genetic mutations with the most prevalent one being a mutation on the MECP2 gene. Signs and symptoms of the disease can vary among those affected. In classic Rett Syndrome, typically babies will develop normally until about 6 to 18 months. It is at this point that parents and caregivers may notice changes in the how the baby is interacting in his/her environment. They appear to lose interest in play or in interactions with people and may not make eye contact.

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Children also will show signs of A child who suffers with this syndrome will suffer with many developmental

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Once those results were in, they told me that he had a chromosome abnormality. They explained that there was an extra piece on chromosome 22. His final diagnosis at that time was mild cerebral palsy, hearing loss and multiple

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The Lamin A gene is a dominant gene which is not X-linked, and almost always happen through an accidental mutation. With Progeria, it is not the gene that directly causes the disease, it is caused by a poorly or a non-functioning protein which is created by using the code, Prelamin A. Progeria is formed by an modification in LMNA which causes the gene to change, which then leads to a change in protein with a different function and form. Since Progeria is an autosomal disease, the mutation mostly always occurs after conception in the child. But there are rare cases where the parent does have the mutation in their sex-cells, which will lead to a very high chance that their child will have Progeria. Also if the child has the majority of the cells

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The journal relates to several Pediatric Clinical Objectives. One objective the journal demonstrates is: applies knowledge of human development in providing nursing care for pediatric patients and their families. Rett syndrome is a neurodevelopment disease. It alters the developmental aspect of a child. Through Briggs journal, she explains how we should approach Rett syndrome differently and how the family can be involved.

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Results indicated that in the present sample, RD and PD are each heritable on their own. Further, even when correcting for RD, the two disorders were found to be coheritable, indicating that the finding of cofamiliality of RD and PD is at least partially driven by genetic influences. The implications of these results for the conceptualization, identification, and treatment of these two disorders are

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The sibling relationship is unique in that it lasts the longest of all human relationships. Sibling relationships afford unique opportunities for child development. Siblings are development tally important because of their emotionally uninhibited Relationships, the impact of sharing their parents, and their daily contact and familiarity (Dunn, 2005). Siblings are sources of support, amusement and fun as well as frustration and irritation for each other. They offer a way for children to develop cognitively and socially.

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It would be difficult for people with Kanner’s to raise a child with all of these physical and mental disabilities. Rett Syndrome is also one of the types of autism, this disability is only prone in females for a reason that is still unknown. Other disabilities are attributed to males 75% of the time. The disability makes it so these women are hardly able to move and speak; this autism type has been classified as a genetic defect. This would definitely make it difficult to raise a child considering the fact that people with Rett’s syndrome are unable to move or

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Autism There are many common diseases that modify the functions of the human body. Neurological diseases, for example, could affect anyone at any time. The worst kinds of neurological diseases are those which can affect the functions of the human brain. A well-known example is autism, and it has become a widespread disease among children. According to the Centers for Disease Control and Prevention (CDC), 1 of every 68 children in the U.S would have autism spectrum disorder; moreover, the study shows that 1 in 42 boys and 1 in 189 girls would have autism spectrum disorder (1).

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Most people avoid thinking of the idea of having one of their future children born with a genetic disorder. But this is not a realistic thought. A study made by the National Down Syndrome Society (2014) found out that about one in every seven hundred babies in the United States is born with Down syndrome, a chromosomal disorder caused by an error during the cell division. This results in an extra copy of the chromosome 21 which alters the brain and body development. People with Down syndrome are born with intellectual disability, some characteristic facial features and cognitive delays.

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