Rett Syndrome Research Paper

Autism Spectrum Disorder (ASD), mostly used term is autism, “a chronic disorder whose symptoms include failure to develop normal social relations with other people, impaired development of communicative ability, lack of imaginative ability, and repetitive, stereotyped movements” (Carlson, 2007, p. 594). A person with autism does not exactly have the same personalities. For example, some autistic children care about their primary caregivers’ attention towards them and others doesn’t.

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. It has been demonstrated that the possibility of a child being born with Down syndrome increases as the age of the mother increases, and clearly women have delayed their maternity especially

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

Aarskog syndrome (also known as Aarskog–Scott syndrome, faciodigitogenital syndrome, shawl scrotum syndrome and faciogenital dysplasia) is a rare autosomal X-linked inherited disorder that affects a person 's height, muscles, skeleton, genitals, and appearance of the face. It mostly affects at birth and the symptoms usually become apparent by the age of 3years. Unfortunately, Aarskog syndrome is a lifelong condition without a cure. Some people with Aarskog syndrome are born with more serious abnormalities, such as heart defects or a cleft lip with or without an opening in the roof of the mouth (cleft palate). Most males with Aarskog syndrome have a shawl scrotum, in which the scrotum surrounds the penis. Less often,

Many people haven’t heard of Fragile X Syndrome, and many who have don’t know what really causes it. According to Elizabeth C. Ballinger, graduate program in Neuroscience at Stony Brook University in New York, “Fragile X Syndrome is the most common

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. In communication you will see that the child sometimes can display delayed speech and language skills, uses few words or no gestures, and usually does not pretend play. A child diagnosed with ASD will usually

Sturge-Weber syndrome is also known as encephalotrigeminal angiomatosis. It is a condition that your child is born with (congenital). Sturge-Weber syndrome affects your child’s nervous system and may cause glaucoma. Glaucoma occurs when there is too much pressure in your child’s eye or eyes due to fluid.

The National Organization for Rare Disorders (NORD) recognizes Rett Syndrome as having two basic forms: classic Rett Syndrome, and a milder form, atypical Rett Syndrome. 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. Normal infant development may be delayed such as crawling, sitting, pulling up, or walking. Rett babies may also become restless and irritable. Physically, baby’s heads may be

According to Learn.Gentics (2015) ' A genetic disorder is a disease that is caused by an abnormality in an individual 's DNA '. These abnormalities can be found in a variety of different ways. They can be as minute as a change in a single base-pair inside a gene to the addition or subtraction of a whole Chromosome. No matter how big or small the abnormality is, they can cause numerous amounts of genetic diseases which can change a persons life forever. Genetic diseases are passed down from a carrier parent to their offspring. Depending on what type of genetic disease it is, depends on how many parents it takes to pass the disease on to their offspring. In some cases it 's one parent and in other cases its both parents. Some

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). Autism is a disorder in the nerves that makes the human brain socially inactive, and in order to understand it, several main aspects must be considered.

These disorders cannot fit to the diagnosis of intellectual disability, or global developmental delay only (DSM-5, pp. 50-51).

Lesch-Nyhan Syndrome parents having the option of abortion. Lesch-Nyhan is a genetic disease that is linked to the X chromosome. Males only develop symptoms, such as self-injuries, rapid jerking movements, and early deaths. Females do not get the symptoms because of the health X chromosome prevents them getting the disease, and they become a carrier. A mother has a 50/50 chance of giving her offspring the infected chromosome, a father cannot pass the disease. A male can have a mutation while developing, if the disease is not passed on from his mother. There is no cure, but there are some treatments such as prescribed drugs to help lower and relax most symptoms. Some doctors recommend having patients getting their teeth removed to prevent self-

Many males who are affected are not heavily affected by Jacobs Syndrome and since they do not look any different than normal males, many men who have Jacobs Syndrome are never identified. They usually have normal or slightly lower than normal intelligence. They may need extra assistance in certain academic subjects. Hyperactivity and temper tantrums can also occur more frequently than expected during childhood. At the more severe end of the spectrum, affected people’s speech and language delays and disabilities may be more serious and they can be diagnosed with a specific speech or language disorder which may require therapy.

Muscular Dystrophy is a hereditary disease where the muscles waste away and progressively get weaker. There may be periods of time where the disease is at rest, and the muscles aren’t wasting away, but for the most part the muscles continue to get weaker and weaker. Through exercise and physiotherapy, the disease can be slowed. It is important to continue to mobilize the muscles as to prevent contractures. Contractures occur when a joint has become immobile for so long that it can no longer be moved at all. Though the disease itself results in progressive weakness, it is usually not painful. A person diagnosed with muscular dystrophy can sometimes experience cramping, though that is uncommon. There are different types of muscular dystrophies,

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. The journal explains the different stages and what signs and symptoms to look for in a patient with Rett syndrome. The journal also explains the different specialists that may be involved and how it’s a collaboration of a team. The journal goes into detail about how the disease affects the family and how they need to manage