Rett Syndrome

Social competency can be defined as skills related to interaction with others (peers, family, authority figures, nonfamiliar speakers, etc.) both verbally and nonverbally. This may be due in part to the affect on facial expressions (Geirdal, Overland, Heimdal, Storhaug, Asten & Akre, 2013, p. 2880). This may also be due to the significant amount of time that children with TCS (individuals whose phenotypic symptoms are severe enough to be noticed as neonates, infants, and young children) spend in hospitals/away from peers in natural contexts. This lack of experience affects language, and language is associated with both theory of mind and social competency, as they are both in-turn also associated with language. Each entity is interconnected with one another. Language age is associated with social competency and children with hearing loss often have language delays. Furthermore, social competency is likely affected by the inability to maintain peer relationships due to ostracization from peers, ostracization that may be due to either hearing loss and/or physical differences. Not to mention, the speech-hearing and physical disabilities are likely to affect self-esteem, which will negatively influence participation and

When I am explaining about the social stigma for the vast majority of disabled people a restriction of the possibility of participation in normal social life and limitations in the pursuit of personal happiness are often grave and depressing for the person with an impairment that causes a disability. There are a number of diseases that are stigmatized- mental disorders, aids, venereal disease, leprosy, and certain skin diseases. People who are stigmatised are usually receiving much less social support than those who have non-stigmatising illness. Mental disorders carry more stigma than any other illness. Stigma reduces the value of the persons who have a mental disorder. Stigmatisation is one of the major obstacles to the improvement of

While stigma may not necessarily be a cause of a person’s mental disorder, it can certainly contribute to the complication and perpetuation of their illness. The effect of stigma goes well beyond just the patient and provides a commentary on society’s overall level of intolerance of those who are considered different from the majority. By recognizing the level of stigma that exists, perhaps we can alter that behavior and gravitate towards a more productive attitude towards mental illness.

While the treatment methodology for mental illness has improved over the last few decades, the negative stigma surrounding those who seek care is still a major roadblock. (Corrigan, 2004) To better understand the term stigma, the definition must first be examined. According to Merriam Webster’s Dictionary Stigma is defined as “a set of negative often unfair beliefs that a society or group of people have about something; a mark of shame or discredit.” (Stigma, 2015). These views are often

Within the past two decades there’s been a revival in efforts to reduce stigmatization attached to mental illnesses. It was concluded that if mental illnesses were perceived better as ‘real’ diseases by the public that stigma would go down greatly. Reports proposed the idea that better scientific understanding of mental illnesses by the general public could greatly reduce stigma. Stigma is intensely rooted in social and cultural norms it’s patterns devalue and dehumanize groups of individuals within society (in this case mentally ill people). Stigma constructs barriers for individuals, barriers that limit a person’s abilities to have equal opportunities for employment, safe housing, health care and social relationships.Efforts to reduce stigma in recent years have

Social Stigma is commonly held by people today. Social stigma is prejudicial attitudes and discriminating behavior towards individuals with mental health problems. These behaviors towards the individuals often times times hurts their reputation. According to psychologist Graham Davey studies revealed “…the most commonly held belief was that people with mental health problems were dangerous.” People had these

Rett Syndrome (RTT) is a rare neurodevelopmental disorder caused by a mutation of a gene found on the X chromosome; it have been thought that RTT was exclusively found in females, but a limited number of males with RTT have been reported (Renieri et al, 2003). Unlike females, who have two X chromosomes, males only have one X-chromosome. Because males lack a "backup" copy of the X chromosome that can compensate for a faulty one, RTT is often fatal to males (Katz et al, 2012). Prior research has shown that a mutation in the methyl CpG binding protein 2 (MeCP2) gene predominantly causes RTT (Forbes-Lorman et al, 2014). The MeCP2 gene holds the information for the production of the protein methyl cytosine binding protein 2 (MeCP2), which is

This deletion can occur through a variety of genetic arrangements, in the form of unbalanced translocation, ring chromosomes, interstitial deletion, and inversion. The main symptom of individuals with Cri-du-Chat is that at a young age, they have a high pitched cry, that resembles that of a cat. This cry generally becomes less noticeable as the individual ages. Some of the other symptoms of Cri-du-Chat Syndrome are mental retardation, hyperactivity, delayed development, small heads, round faces, low nasal bridges, widely-spaced eyes, low birth weight, and weak muscle tone. Since the size of the deletion of the genetic material varies between each affected person, these individuals can all show slightly different symptoms and levels of intensity with these symptoms. Individuals with this syndrome may come across feeding issues due to difficulties in swallowing food and sucking in liquids. They also sometimes lack sufficient communication and verbal skills, and face delays in the progress of learning to walk. There is no cure for Cri-du-Chat Syndrome as of

                 Rett syndrome, including the age of onset and the severity of symptoms, varies from child to child. Before the symptoms begin, however, the child generally appears to grow and develop normally, although there are often subtle abnormalities even in early infancy, such as loss of muscle tone (hypotonia), difficulty feeding, and jerkiness in limb movements. Then, gradually, mental and physical symptoms appear. As the syndrome progresses, the child loses purposeful use of her hands and the ability to speak (Rett Syndrome, 2010). Other early symptoms may include problems crawling or walking and diminished eye contact (Rett Syndrome, 2010). The onset of a period of regression is sometimes sudden.  Apraxia — the inability to perform motor functions — is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze

Approximately 1 in every 10,000 infants in the United States is affected with Rett syndrome (RTT), an X-linked neurodevelopmental disease. (Jin, Chen, & Xiao, 2017). Nearly all RTT patients are girls as the mutation on the male’s single X-chromosome tends to be prenatally lethal. The disorder was first described by Andreas Rett in 1966 and is characterized by apparent normal development for the first six to eighteen months of life, followed by the loss of intellectual functioning, acquired fine and gross motor skills, and the ability to engage in social interaction (Krishnan, Krishnan, Connors, Choy, Page, Peti, Van Aiest, Shea, & Tonks, 2015). Other clinical manifestations include seizures, disturbed breathing patterns with periodic

Rett’s Syndrome (once under the ASD umbrella) a condition only observed in female children to date, and is characterised by normal language and social development until the child is aged between one and four years old, which results in loss of all skills gained and then ultimately needing care 24 hours a day, has been removed from the ASD umbrella.

Stigma has been said to be “a feeling of being negatively differentiated owing to a particular condition, group membership or state in life”(Arboleda-Florez & Stuart, 2012, p. 458). There are typically two types of mental illness stigma that are discussed. Public stigma, also known as societal stigma, is the stigma associated with the prejudicial attitudes the public holds towards those people who suffer from mental illness (Arboleda-Florez & Stuart, 2012; Corrigan, Markowitz, Watson, Rowan & Kubiak, 2003). Self-stigma, also known as internalized stigma, is the loss of self-esteem, withdrawal, and personal shame that some with mental illness will experience. Self-stigma is usually developed when those who suffer from mental illness associate the negative stereotypes the public holds with themselves (Chronister, Chou, & Lieo, 2013; Corrigan et al., 2003).

There are many stigmas, or misconceptions and misperceptions in our society which need to be shattered. I believe that one of the worse possible effects of stigma is that it causes those affected by psychological disorders, or mental illness, to crawl more deeply into themselves because it provokes a sense of shame. Stigma thrusts those suffering with mental illness into a sense of isolation, social exclusion, and discrimination. “Stigma can lead to discrimination … It may be obvious or direct … Or it may be unintentional or subtle…” (Staff). Stigma is often as big as the illness itself and I confess to having been a perpetuator of this dreaded thing, although not consciously aware and without the intent of furthering the harm of someone.

There is a stigma in our country regarding mental health and its treatment. These stigma are divided between social stigma and perceived or self-stigma. Social stigma are those that society places negative feelings towards a certain group, which can lead to discrimination. Perceived or self-stigma are those internalized feelings of the mentally ill individual on how they feel society views them. Both types of stigma can lead to negative feelings of the mentally ill individual through feelings of shame, depression, hopelessness, and anxiety. Current policies on mental health are limited by federal legislation and may only address the aspect of public discrimination.

Individuals with serious mental illness are doubly affected by their disease; not only do they experience the often debilitating symptoms of their condition, but they must also endure mundane mental health stigmas and prejudices. Stigmatized attitudes are perceived to be one of the greatest impediments to living a complete and fulfilling life. Stigma has been defined as a combination of three related problems: ignorance, prejudice and discrimination (Rose, Thornicroft, Pinfold, & Kassam, 2007). Ignorance implies a lack of knowledge, prejudice entails negative attitudes, and discrimination involves exclusionary actions against people deemed to be different. Two forms of stigma are commonly distinguished in literature. Public stigma describes the attitudes of society towards people with mental illness, while self-stigma results from the internalization of prejudice by people who suffer from mental health conditions (Corrigan, Powell, & Rüsch, 2012). The World Health Organization announced that stigma was the most crucial obstacle to overcome for a community to functioning effectively and efficiently (Ontario Hospital Association, 2013).