Mentalism (discrimination)

From Wikipedia, the free encyclopedia

Mentalism or sanism describes discrimination and oppression against a mental trait or condition a person has, or is judged to have. This discrimination may or may not be characterized in terms of mental disorder or cognitive impairment. The discrimination is based on numerous factors such as stereotypes about neurodivergence, for example autism spectrum, learning disorders, ADHD, bipolar, schizophrenia, and personality disorder diagnoses, specific behavioral phenomena such as stuttering and tics, or intellectual disability.

Like other "isms" such as sexism and racism, mentalism involves multiple intersecting forms of oppression, complex social inequalities and imbalances of power. It can result in covert discrimination by multiple, small insults and indignities. It is characterized by judgments of another person's perceived mental health status. These judgments are followed by actions such as blatant, overt discrimination which may include refusal of service, or the denial of human rights. Mentalism impacts how individuals are treated by the general public, by mental health professionals, and by institutions, including the legal system. The negative attitudes involved may also be internalized.

The terms mentalism, from "mental", and sanism, from "sane", have become established in some contexts, though concepts such as social stigma, and in some cases ableism, may be used in similar but not identical ways.

While mentalism and sanism are used interchangeably, sanism is becoming predominant in certain circles, such as academics, those who identify as mad and mad advocates and in a socio-political context where sanism is gaining ground as a movement. The movement of sanism is an act of resistance among those who identify as mad, consumer survivors, and mental health advocates. In academia evidence of this movement can be found in the number of recent publications about sanism and social work practice.

Origin of terms

"Sanism" was coined by Morton Birnbaum.

 

The term "sanism" was coined by Morton Birnbaum during his work representing Edward Stephens, a mental health patient, in a legal case in the 1960s. Birnbaum was a physician, lawyer and mental health advocate who helped establish a constitutional right to treatment for psychiatric patients along with safeguards against involuntary commitment. Since first noticing the term in 1980, New York legal professor Michael L. Perlin subsequently continued its use.

"Mentalism" was coined by Judi Chamberlin.

 

In 1975 Judi Chamberlain coined the term mentalism in a book chapter of Women Look at Psychiatry. The term became more widely known when she used it in 1978 in her book On Our Own: Patient Controlled Alternatives to the Mental Health System, which for some time became the standard text of the psychiatric survivor movement in the US. People began to recognize a pattern in how they were treated, a set of assumptions which most people seemed to hold about mental (ex)patients regardless of whether they applied to any particular individual at any particular time – that they were incompetent, unable to do things for themselves, constantly in need of supervision and assistance, unpredictable, likely to be violent or irrational etc. It was realized that not only did the general public express mentalist ideas, so did ex-patients, a form of internalized oppression.

As of 1998 these terms have been adopted by some consumers/survivors in the UK and the USA, but had not gained general currency. This left a conceptual gap filled in part by the concept of 'stigma', but this has been criticized for focusing less on institutionalized discrimination with multiple causes, but on whether people perceive mental health issues as shameful or worse than they are. Despite its use, a body of literature demonstrated widespread discrimination across many spheres of life, including employment, parental rights, housing, immigration, insurance, health care and access to justice. However, the use of new "isms" has also been questioned on the grounds that they can be perceived as divisive, out of date, or a form of undue political correctness. The same criticisms, in this view, may not apply so much to broader and more accepted terms like 'discrimination' or 'social exclusion'.

There is also the umbrella term ableism, referring to discrimination against those who are (perceived as) disabled. In terms of the brain, there is the movement for the recognition of neurodiversity. The term psychophobia (from psyche and phobia) has occasionally been used with a similar meaning.

Social division

According to Coni Kalinowski (a psychiatrist at the University of Nevada and Director of Mojave Community Services) and Pat Risser (a mental health consultant and self-described former recipient of mental health services), mentalism at one extreme can lead to a categorical dividing of people into an empowered group assumed to be normal, healthy, reliable, and capable, and a powerless group assumed to be sick, disabled, crazy, unpredictable, and violent. This divide can justify inconsiderate treatment of the latter group and expectations of poorer standards of living for them, for which they may be expected to express gratitude. Further discrimination may involve labeling some as "high functioning" and some as "low-functioning"; while this may enable the targeting of resources, in both categories human behaviors are recast in pathological terms.

The discrimination can be so fundamental and unquestioned that it can stop people truly empathizing (although they may think they are) or genuinely seeing the other point of view with respect. Some mental conditions can impair awareness and understanding in certain ways at certain times, but mentalist assumptions may lead others to erroneously believe that they necessarily understand the person's situation and needs better than they do themselves.

Reportedly even within the disability rights movement internationally, "there is a lot of sanism", and "disability organisations don't always 'get' mental health and don't want to be seen as mentally defective." Conversely, those coming from the mental health side may not view such conditions as disabilities in the same way.

Some national government-funded charities view the issue as primarily a matter of stigmatizing attitudes within the general public, perhaps due to people not having enough contact with those (diagnosed with) mental illness, and one head of a schizophrenia charity has compared mentalism to the way racism may be more prevalent when people don't spend time together throughout life. A psychologist who runs The Living Museum facilitating current or former psychiatric patients to exhibit artwork, has referred to the attitude of the general public as psychophobia.

Clinical terminology

Mentalism may be enshrined in clinical terminology in subtle ways, including in the basic diagnostic categories used by psychiatry (as in the DSM or ICD). There is some ongoing debate as to which terms and criteria may communicate contempt or inferiority, rather than facilitate real understanding of people and their issues.

Some oppose the entire process as labeling and some have responded to justifications for it – for example that it is necessary for clinical or administrative purposes – as the way a person may justify the use of ethnic slurs because they intend no harm. Others argue that most aspects could easily be expressed in a more accurate and less offensive manner.

David Oaks, 2009

 

Some clinical terms may be used far beyond the usual narrowly defined meanings, in a way that can obscure the regular human and social context of people's experiences. For example, having a bad time may be assumed to be decompensation; incarceration or solitary confinement may be described as treatment regardless of benefit to the person; regular activities like listening to music, engaging in exercise or sporting activities, or being in a particular physical or social environment (milieu), may be referred to as therapy; all sorts of responses and behaviors may be assumed to be symptoms; core adverse effects of drugs may be termed side effects.

The former director of a US-based psychiatric survivors organization focused on rights and freedoms, David Oaks, has advocated the taking back of words like "mad", "lunatic", "crazy" or "bonkers". While acknowledging that some choose not to use such words in any sense, he questions whether medical terms like "mentally ill", "psychotic" or "clinically depressed" really are more helpful or indicative of seriousness than possible alternatives. Oaks says that for decades he has been exploring the depths of sanism and has not yet found an end, and suggests it may be the most pernicious 'ism' because people tend to define themselves by their rationality and their core feelings. One possible response is to critique conceptions of normality and the problems associated with normative functioning around the world, although in some ways that could also potentially constitute a form of mentalism. After his 2012 accident breaking his neck and subsequent retirement, Oaks refers to himself as "PsychoQuad" on his personal blog.

British writer Clare Allen argues that even reclaimed slang terms such as "mad" are just not accurate. In addition, she sees the commonplace mis-use of concepts relating to mental health problems – including for example jokes about people hearing voices as if that automatically undermines their credibility – as equivalent to racist or sexist phrases that would be considered obviously discriminatory. She characterises such usage as indicating an underlying psychophobia and contempt.

Blame

Graffiti on a mental health advocacy service

 

Interpretations of behaviors, and applications of treatments, may be done in an arrogant unjustified way because of an underlying mentalism, according to critics. If a recipient disagrees or does not change, they may be labeled as non-compliant, uncooperative, or treatment-resistant. This is despite the fact that the issue may be inadequate understanding of the person or his/her problems, adverse medication effects, a poor match between the treatment and the person's lifestyle, stigma associated with the treatment, difficulty with access, cultural unacceptability, or many other issues.

Mentalism may lead people to assume that someone is not aware of what they are doing and that there is no point trying to communicate with them, despite the fact that they may well have a level of awareness and desire to connect even if they are acting in a seemingly irrational or self-harming way. In addition, mental health professionals and others may tend to equate subduing a person with treatment; a quiet client who causes no community disturbance may be deemed improved no matter how miserable or incapacitated that person may feel as a result.

Clinicians may blame clients for not being sufficiently motivated to work on treatment goals or recovery, and as acting out when things are not agreed with or are found upsetting. But critics say that in the majority of cases this is actually due to the client having been treated in a disrespectful, judgmental, or dismissive manner. Nevertheless, such behavior may be justified by characterizing the client as demanding, angry or needing limits. To overcome this, it has been suggested that power-sharing should be cultivated and that when respectful communication breaks down, the first thing that needs to be asked is whether mentalist prejudices have been expressed.

Neglect

Mentalism has been linked to negligence in monitoring for adverse effects of medications (or other interventions), or to viewing such effects as more acceptable than they would be for others. This has been compared to instances of maltreatment based on racism. Mentalism has also been linked to neglect in failing to check for, or fully respect, people's past experiences of abuse or other trauma.

T-shirt intended to show the possibility and individuality of recovery

 

Treatments that do not support choice and self-determination may cause people to re-experience the helplessness, pain, despair, and rage that accompanied the trauma, and yet attempts to cope with this may be labeled as acting out, manipulation, or attention-seeking.

In addition, mentalism can lead to "poor" or "guarded" predictions of the future for a person, which could be an overly pessimistic view skewed by a narrow clinical experience. It could also be made impervious to contrary evidence because those who succeed can be discounted as having been misdiagnosed or as not having a genuine form of a disorder — the No true Scotsman fallacy. While some mental health problems can involve very substantial disability and can be very difficult to overcome in society, predictions based on prejudice and stereotypes can be self-fulfilling because individuals pick up on a message that they have no real hope, and realistic hope is said to be a key foundation of recovery. At the same time, a trait or condition might be considered more a form of individual difference that society needs to include and adapt to, in which case a mentalist attitude might be associated with assumptions and prejudices about what constitutes normal society and who is deserving of adaptations, support, or consideration.

Institutional discrimination

Offensive and injurious practices may be integrated into clinical procedures, to the point where professionals no longer recognize them as such, in what has been described as a form of institutional discrimination. 

An institutional label

 

This may be apparent in physical separation, including separate facilities or accommodation, or in lower standards for some than others. Mental health professionals may find themselves drawn into systems based on bureaucratic and financial imperatives and social control, resulting in alienation from their original values, disappointment in "the system", and adoption of the cynical, mentalist beliefs that may pervade an organization. However, just as employees can be dismissed for disparaging sexual or ethnic remarks, it is argued that staff who are entrenched in negative stereotypes, attitudes, and beliefs about those labeled with mental disorders need to be removed from service organizations. A related theoretical approach, known as expressed emotion, has also focused on negative interpersonal dynamics relating to care givers, especially within families. However, the point is also made in such views that institutional and group environments can be challenging from all sides, and that clear boundaries and rights are required for everyone. 

The mental health professions have themselves been criticised. While social work (also known as clinical social work) has appeared to have more potential than others to understand and assist those using services, and has talked a lot academically about anti-oppressive practice intended to support people facing various -isms, it has allegedly failed to address mentalism to any significant degree. The field has been accused, by social work professionals with experience of using services themselves, of failing to help people identify and address what is oppressing them; of unduly deferring to psychiatric or biomedical conventions particularly in regard to those deemed most unwell; and of failing to address its own discriminatory practices, including its conflicts of interest in its official role aiding the social control of patients through involuntary commitment.

In the "user/survivor" movement in England, Pete Shaughnessy, a founder of mad pride, concluded that the National Health Service is "institutionally mentalist and has a lot of soul searching to do in the new Millennium", including addressing the prejudice of its office staff. He suggested that when prejudice is applied by the very professionals who aspire to eradicate it, it raises the question of whether it will ever be eradicated. Shaughnessy committed suicide in 2002.

The psychiatric survivors movement has been described as a feminist issue, because the problems it addresses are "important for all women because mentalism acts as a threat to all women" and "mentalism threatens women's families and children." A psychiatric survivor and professional has said that "Mentalism parallels sexism and racism in creating an oppressed underclass, in this case of people who have received psychiatric diagnosis and treatment". She reported that the most frequent complaint of psychiatric patients is that nobody listens, or only selectively in the course of trying to make a diagnosis.

On a society-wide level, mentalism has been linked to people being kept in poverty as second class citizens; to employment discrimination keeping people living on handouts; to interpersonal discrimination hindering relationships; to stereotypes promoted through the media spreading fears of unpredictability and dangerousness; and to people fearing to disclose or talk about their experiences.

The legal system

With regard to legal protections against discrimination, mentalism may only be covered under general frameworks such as the disability discrimination acts that are in force in some countries, and which require a person to say that they have a disability and to prove that they meet the criteria. 

In terms of the legal system itself, the law is traditionally based on technical definitions of sanity and insanity, and so the term "sanism" may be used in response. The concept is well known in the US legal community, being referred to in nearly 300 law review articles between 1992 and 2013, though is less well known in the medical community.

Michael Perlin, Professor of Law at New York Law School, has defined sanism as "an irrational prejudice of the same quality and character as other irrational prejudices that cause and are reflected in prevailing social attitudes of racism, sexism, homophobia, and ethnic bigotry that permeates all aspects of mental disability law and affects all participants in the mental disability law system: litigants, fact finders, counsel, and expert and lay witnesses."

Perlin notes that sanism affects the theory and practice of law in largely invisible and socially acceptable ways, based mainly on "stereotype, myth, superstition, and deindividualization." He believes that its "corrosive effects have warped involuntary civil commitment law, institutional law, tort law, and all aspects of the criminal process (pretrial, trial and sentencing)." According to Perlin, judges are far from immune, tending to reflect sanist thinking that has deep roots within our culture. This results in judicial decisions based on stereotypes in all areas of civil and criminal law, expressed in biased language and showing contempt for mental health professionals. Moreover, courts are often impatient and attribute mental problems to "weak character or poor resolve".

Sanist attitudes are prevalent in the teaching of law students, both overtly and covertly, according to Perlin. He notes that this impacts on the skills at the heart of lawyering such as "interviewing, investigating, counseling and negotiating", and on every critical moment of clinical experience: "the initial interview, case preparation, case conferences, planning litigation (or negotiation) strategy, trial preparation, trial and appeal."

There is also widespread discrimination by jurors, who Perlin characterizes as demonstrating "irrational brutality, prejudice, hostility, and hatred" towards defendants where there is an insanity defence. Specific sanist myths include relying on popular images of craziness; an 'obsession' with claims that mental problems can be easily faked and experts duped; assuming an absolute link between mental illness and dangerousness; an 'incessant' confusion and mixing up of different legal tests of mental status; and assuming that defendants acquitted on insanity defenses are likely to be released quickly. Although there are claims that neuroimaging has some potential to help in this area, Perlin concludes that it is very difficult to weigh the truth or relevance of such results due to the many uncertainties and limitations, and as it may be either disregarded or over-hyped by scientists, lawyers or in the popular imagination. He believes "the key to an answer here is a consideration of sanism", because to a great extent it can "overwhelm all other evidence and all other issues in this conversation". He suggests that "only therapeutic jurisprudence has the potential power to 'strip the sanist facade'."

Perlin has suggested that the international Convention on the Rights of Persons with Disabilities is a revolutionary human rights document which has the potential to be the best tool to challenge sanist discrimination.

He has also addressed the topic of sanism as it affects which sexual freedoms or protections are afforded to psychiatric patients, especially in forensic facilities.

Sanism in the legal profession can affect many people in communities who at some point in their life struggle with some degree of mental health problems, according to Perlin. This may unjustly limit their ability to legally resolve issues in their communities such as: "contract problems, property problems, domestic relations problems, and trusts and estates problems."

Susan Fraser, a lawyer in Canada who specializes in advocating for vulnerable people, argues that sanism is based on fear of the unknown, reinforced by stereotypes that dehumanize individuals. She argues that this causes the legal system to fail to properly defend patients' rights to refuse potentially harmful medications; to investigate deaths in psychiatric hospitals and other institutions in an equal way to others; and to fail to properly listen to and respect the voices of mental health consumers and survivors.

In education

Similar issues have been identified by Perlin in how children are dealt with in regard to learning disabilities, including in special education. In any area of law, he points out, two of the most common sanist myths are presuming that persons with mental disabilities are faking, or that such persons would not be disabled if they only tried harder. In this particular area, he concludes that labeled children are stereotyped in a process rife with racial, class and gender bias. Although intended to help some children, he contends that in reality it can be not merely a double-edged sword but a triple, quadruple or quintuple edged sword. The end result of sanist prejudices and misconceptions, in the context of academic competition, is that "we are left with a system that is, in many important ways, stunningly incoherent".

Multiple discriminations

A spiral of oppression experienced by some groups in society has been identified. Firstly, oppressions occur on the basis of perceived or actual differences (which may be related to broad group stereotypes such as racism, sexism, classism, ageism, homophobia etc.). This can have negative physical, social, economic and psychological effects on individuals, including emotional distress and what might be considered mental health problems. Then, society's response to such distress may be to treat it within a system of medical and social care rather than (also) understanding and challenging the oppressions that gave rise to it, thus reinforcing the problem with further oppressive attitudes and practices, which can lead to more distress, and so on in a vicious cycle. In addition, due to coming into contact with mental health services, people may become subject to the oppression of mentalism, since society (and mental health services themselves) have such negative attitudes towards people with a psychiatric diagnosis, thus further perpetuating oppression and discrimination.

People suffering such oppression within society may be drawn to more radical political action, but sanist structures and attitudes have also been identified in activist communities. This includes cliques and social hierarchies that people with particular issues may find very difficult to break into or be valued by. There may also be individual rejection of people for strange behavior that is not considered culturally acceptable, or alternatively insensitivity to emotional states including suicidality, or denial that someone has issues if they appear to act normally.

Developmental disability

From Wikipedia, the free encyclopedia

Developmental Disability
Specialty	Psychiatry

Developmental disability is a diverse group of chronic conditions that are due to mental or physical impairments that arise before adulthood. Developmental disabilities cause individuals living with them many difficulties in certain areas of life, especially in "language, mobility, learning, self-help, and independent living". Developmental disabilities can be detected early on and persist throughout an individual's lifespan. Developmental disability that affects all areas of a child's development is sometimes referred to as global developmental delay.

Most common developmental disabilities:

• Down syndrome is a condition in which people are born with an extra copy of chromosome 21. Normally, a person is born with two copies of chromosome 21. However, if they are born with Down syndrome, they have an extra copy of this chromosome. This extra copy affects the development of the body and brain, causing physical and mental challenges for the individual.
• Fragile X syndrome (FXS) is thought to cause autism and intellectual disability, usually among boys.
• Pervasive developmental disorders (PDD) are a group of developmental disabilities that can cause significant social, communication and behavioral challenges.
• Fetal alcohol spectrum disorders (FASD) are a group of conditions that can occur in a person whose mother drank alcohol during pregnancy.
• Cerebral palsy (CP) is a group of disorders that affect a person’s ability to move and maintain balance and posture. CP is the most common motor disability in childhood.
• Intellectual disability, also (sometimes proscriptively) known as mental retardation, is defined as an IQ below 70 along with limitations in adaptive functioning and onset before the age of 18 years.

Causes

The causes of developmental disabilities are varied and remain unknown in a large proportion of cases. Even in cases of known etiology the line between "cause" and "effect" is not always clear, leading to difficulty in categorizing causes.

Genetic factors have long been implicated in the causation of developmental disabilities. There is also a large environmental component to these conditions, and the relative contributions of nature versus nurture have been debated for decades.

Current theories on causation focus on genetic factors, and over 1,000 known genetic conditions include developmental disabilities as a symptom.

Developmental disabilities affect between 1 and 2% of the population in most western countries, although many government sources acknowledge that statistics are flawed in this area. The worldwide proportion of people with developmental disabilities is believed to be approximately 1.4%. It is twice as common in males as in females, and some researchers have found that the prevalence of mild developmental disabilities is likely to be higher in areas of poverty and deprivation, and among people of certain ethnicities.

Diagnosis and quantification

Developmental disabilities can be initially suspected when a child does not reach expected child development stages. Subsequently, a differential diagnosis may be used to diagnose an underlying disease, which may include a physical examination and genetic tests. 

The degree of disability can be quantified by assigning a developmental age to a person, which is age of the group into which test scores place the person. This, in turn, can be used to calculate a developmental quotient (DQ) as follows:

${\displaystyle DQ={\frac {Developmental\ age}{Chronological\ age}}*100}$

Associated issues

Physical health issues

There are many physical health factors associated with developmental disabilities. For some specific syndromes and diagnoses, these are inherent, such as poor heart function in people with Down syndrome. People with severe communication difficulties find it difficult to articulate their health needs, and without adequate support and education might not recognize ill health. Epilepsy, sensory problems (such as poor vision and hearing), obesity and poor dental health are over-represented in this population. Life expectancy among people with developmental disabilities as a group is estimated at 20 years below average, although this is improving with advancements in adaptive and medical technologies, and as people are leading healthier, more fulfilling lives, and some conditions (such as Freeman-Sheldon syndrome) do not impact life expectancy.

Mental health issues (dual diagnoses)

Mental health issues, and psychiatric illnesses, are more likely to occur in people with developmental disabilities than in the general population. A number of factors are attributed to the high incidence rate of dual diagnoses:

• The high likelihood of encountering traumatic events throughout their lifetime (such as abandonment by loved ones, abuse, bullying and harassment)
• The social and developmental restrictions placed upon people with developmental disabilities (such as lack of education, poverty, limited employment opportunities, limited opportunities for fulfilling relationships, boredom)
• Biological factors (such as brain injury, epilepsy, illicit and prescribed drug and alcohol misuse)
• Developmental factors (such as lack of understanding of social norms and appropriate behavior, inability of those around to allow/understand expressions of grief and other human emotions)
• External monitoring factor: all people with developmental disabilities that are in a federal- or state-funded residence require the resident to have some form of behavioral monitoring for each person with developmental disability at the residence. With this information psychological diagnoses are more easily given than with the general population that has less consistent monitoring.
• Access to health care providers: in the United States, all people with developmental disabilities that are in a federal- or state-funded residence require the residence to have annual visits to various health care providers. With consistent visits to health care providers more people with developmental disabilities are likely to receive appropriate treatment than the general population that is not required to visit various health care providers.

These problems are exacerbated by difficulties in diagnosis of mental health issues, and in appropriate treatment and medication, as for physical health issues.

Abuse and vulnerability

Abuse is a significant issue for people with developmental disabilities, and as a group they are regarded as vulnerable people in most jurisdictions. Common types of abuse include:

• Physical abuse (withholding food, hitting, punching, pushing, etc.);
• Neglect (withholding help when required, e.g., assistance with personal hygiene);
• Sexual abuse is associated with psychological disturbance. Sequeira, Howlin & Hollins found that sexual abuse was associated with increased rates of mental illness and behavioural problems, including symptoms of post-traumatic stress. Psychological reactions to abuse were similar to those observed in the general population, but with the addition of stereotypical behaviour. The more serious the abuse, the more severe the symptoms that were reported;
• Psychological or emotional abuse (verbal abuse, shaming and belittling);
• Constraint and restrictive practices (turning off an electric wheelchair so a person cannot move);
• Financial abuse (charging unnecessary fees, holding onto pensions, wages, etc.)
• Legal or civil abuse (restricted access to services);
• Systemic abuse (denied access to an appropriate service due to perceived support needs);
• Passive neglect (a caregiver's failure to provide adequate food, shelter).

Lack of education, lack of self-esteem and self-advocacy skills, lack of understanding of social norms and appropriate behavior and communication difficulties are strong contributing factors to the high incidence of abuse among this population.

In addition to abuse from people in positions of power, peer abuse is recognized as a significant, if misunderstood, problem. Rates of criminal offense among people with developmental disabilities are also disproportionately high, and it is widely acknowledged that criminal justice systems throughout the world are ill-equipped for the needs of people with developmental disabilities—as both perpetrators and victims of crime. Failings in care have been identified in one in eight deaths of people with learning difficulties under NHS England.

Challenging behavior

Some people with developmental disabilities exhibit challenging behavior, defined as "culturally abnormal behaviour(s) of such intensity, frequency or duration that the physical safety of the person or others is placed in serious jeopardy, or behaviour which is likely to seriously limit or deny access to the use of ordinary community facilities". Common types of challenging behavior include self-injurious behavior (such as hitting, headbutting, biting), aggressive behavior (such as hitting others, shouting, screaming, spitting, kicking, swearing, hairpulling), inappropriate sexualized behavior (such as public masturbation or groping), behavior directed at property (such as throwing objects and stealing) and stereotyped behaviors (such as repetitive rocking, echolalia or elective incontinence). Such behaviors can be assessed to suggest areas of further improvement, using assessment tools such as the Nisonger Child Behavior Rating Form (NCBRF). 

Challenging behavior in people with developmental disabilities may be caused by a number of factors, including biological (pain, medication, the need for sensory stimulation), social (boredom, seeking social interaction, the need for an element of control, lack of knowledge of community norms, insensitivity of staff and services to the person's wishes and needs), environmental (physical aspects such as noise and lighting, or gaining access to preferred objects or activities), psychological (feeling excluded, lonely, devalued, labelled, disempowered, living up to people's negative expectations) or simply a means of communication. A lot of the time, challenging behavior is learned and brings rewards and it is very often possible to teach people new behaviors to achieve the same aims. Challenging behavior in people with developmental disabilities can often be associated with specific mental health problems.

Experience and research suggests that what professionals call "challenging behavior" is often a reaction to the challenging environments that those providing services create around people with developmental disabilities. "Challenging behavior" in this context is a method of communicating dissatisfaction with the failure of those providing services to focus on what kind of life makes most sense to the person, and is often the only recourse a developmentally disabled person has against unsatisfactory services or treatment and the lack of opportunities made available to the person. This is especially the case where the services deliver lifestyles and ways of working that are centered on what suits the service provider and its staff, rather than what best suits the person. 

In general, behavioral interventions or what has been termed applied behavior analysis has been found to be effective in reducing specific challenging behavior. Recently, efforts have been placed on developing a developmental pathway model in the behavior analysis literature to prevent challenging behavior from occurring.

Societal attitudes

Throughout history, people with developmental disabilities have been viewed as incapable and incompetent in their capacity for decision-making and development. Until the Enlightenment in Europe, care and asylum was provided by families and the Church (in monasteries and other religious communities), focusing on the provision of basic physical needs such as food, shelter and clothing. Stereotypes such as the dimwitted village idiot, and potentially harmful characterizations (such as demonic possession for people with epilepsy) were prominent in social attitudes of the time.

Early in the twentieth century, the eugenics movement became popular throughout the world. This led to the forced sterilization and prohibition of marriage in most of the developed world and was later used by Hitler as rationale for the mass murder of mentally challenged individuals during the Holocaust. The eugenics movement was later thought to be seriously flawed and in violation of human rights and the practice of forced sterilization and prohibition from marriage was discontinued by most of the developed world by the mid 20th century. 

The movement towards individualism in the 18th and 19th centuries, and the opportunities afforded by the Industrial Revolution, led to housing and care using the asylum model. People were placed by, or removed from, their families (usually in infancy) and housed in large institutions (of up to 3,000 people, although some institutions were home to many more, such as the Philadelphia State Hospital in Pennsylvania which housed 7,000 people through the 1960s), many of which were self-sufficient through the labor of the residents. Some of these institutions provided a very basic level of education (such as differentiation between colors and basic word recognition and numeracy), but most continued to focus solely on the provision of basic needs. Conditions in such institutions varied widely, but the support provided was generally non-individualized, with aberrant behavior and low levels of economic productivity regarded as a burden to society. Heavy tranquilization and assembly line methods of support (such as "birdfeeding" and cattle herding) were the norm, and the medical model of disability prevailed. Services were provided based on the relative ease to the provider, not based on the human needs of the individual.

Ignoring the prevailing attitude, Civitans adopted service to the developmentally disabled as a major organizational emphasis in 1952. Their earliest efforts included workshops for special education teachers and daycamps for disabled children, all at a time when such training and programs were almost nonexistent. In the United States, the segregation of people with developmental disabilities wasn't widely questioned by academics or policy-makers until the 1969 publication of Wolf Wolfensberger's seminal work "The Origin and Nature of Our Institutional Models", drawing on some of the ideas proposed by SG Howe 100 years earlier. This book posited that society characterizes people with disabilities as deviant, sub-human and burdens of charity, resulting in the adoption of that "deviant" role. Wolfensberger argued that this dehumanization, and the segregated institutions that result from it, ignored the potential productive contributions that all people can make to society. He pushed for a shift in policy and practice that recognized the human needs of "retardates" and provided the same basic human rights as for the rest of the population. 

The publication of this book may be regarded as the first move towards the widespread adoption of the social model of disability in regard to these types of disabilities, and was the impetus for the development of government strategies for desegregation. Successful lawsuits against governments and an increasing awareness of human rights and self-advocacy also contributed to this process, resulting in the passing in the U.S. of the Civil Rights of Institutionalized Persons Act in 1980. 

From the 1960s to the present, most U.S. states have moved towards the elimination of segregated institutions. Along with the work of Wolfensberger and others including Gunnar and Rosemary Dybwad, a number of scandalous revelations around the horrific conditions within state institutions created public outrage that led to change to a more community-based method of providing services. By the mid-1970s, most governments had committed to de-institutionalization, and had started preparing for the wholesale movement of people into the general community, in line with the principles of normalization. In most countries, this was essentially complete by the late 1990s, although the debate over whether or not to close institutions persists in some states, including Massachusetts.

Individuals with developmental disabilities are not fully integrated into society. Person Centered Planning and Person Centered Approaches are seen as methods of addressing the continued labeling and exclusion of socially devalued people, such as people with a developmental disability label, encouraging a focus on the person as someone with capacities and gifts, as well as support needs.

Services and support

Today, support services are provided by government agencies, non-governmental organizations and by private sector providers. Support services address most aspects of life for people with developmental disabilities, and are usually theoretically based in community inclusion, using concepts such as social role valorization and increased self-determination (using models such as Person Centred Planning). Support services are funded through government block funding (paid directly to service providers by the government), through individualized funding packages (paid directly to the individual by the government, specifically for the purchase of services) or privately by the individual (although they may receive certain subsidies or discounts, paid by the government). There also are a number of non-profit agencies dedicated to enriching the lives of people living with developmental disabilities and erasing the barriers they have to being included in their community.

Education and training

Education and training opportunities for people with developmental disabilities have expanded greatly in recent times, with many governments mandating universal access to educational facilities, and more students moving out of special schools and into mainstream classrooms with support. 

Post-secondary education and vocational training is also increasing for people with these types of disabilities, although many programs offer only segregated "access" courses in areas such as literacy, numeracy and other basic skills. Legislation (such as the UK's Disability Discrimination Act 1995) requires educational institutions and training providers to make "reasonable adjustments" to curriculum and teaching methods in order to accommodate the learning needs of students with disabilities, wherever possible. There are also some vocational training centers that cater specifically to people with disabilities, providing the skills necessary to work in integrated settings, one of the largest being Dale Rogers Training Center in Oklahoma City.

At-home and community support

Many people with developmental disabilities live in the general community, either with family members, in supervised-group homes or in their own homes (that they rent or own, living alone or with flatmates). At-home and community supports range from one-to-one assistance from a support worker with identified aspects of daily living (such as budgeting, shopping or paying bills) to full 24-hour support (including assistance with household tasks, such as cooking and cleaning, and personal care such as showering, dressing and the administration of medication). The need for full 24-hour support is usually associated with difficulties recognizing safety issues (such as responding to a fire or using a telephone) or for people with potentially dangerous medical conditions (such as asthma or diabetes) who are unable to manage their conditions without assistance.

In the United States, a support worker is known as a Direct Support Professional (DSP). The DSP works in assisting the individual with their ADLs and also acts as an advocate for the individual with a developmental disability, in communicating their needs, self-expression and goals.

Supports of this type also include assistance to identify and undertake new hobbies or to access community services (such as education), learning appropriate behavior or recognition of community norms, or with relationships and expanding circles of friends. Most programs offering at-home and community support are designed with the goal of increasing the individual's independence, although it is recognized that people with more severe disabilities may never be able to achieve full independence in some areas of daily life.

Residential accommodation

Some people with developmental disabilities live in residential accommodation (also known as group homes) with other people with similar assessed needs. These homes are usually staffed around the clock, and usually house between 3 and 15 residents. The prevalence of this type of support is gradually decreasing, however, as residential accommodation is replaced by at-home and community support, which can offer increased choice and self-determination for individuals. Some U.S. states still provide institutional care, such as the Texas State Schools. The type of residential accommodation is usually determined by the level of developmental disability and mental health needs.

Employment support

Employment support usually consists of two types of support:

• Support to access or participate in integrated employment, in a workplace in the general community. This may include specific programs to increase the skills needed for successful employment (work preparation), one-to-one or small group support for on-the-job training, or one-to-one or small group support after a transition period (such as advocacy when dealing with an employer or a bullying colleague, or assistance to complete an application for a promotion).
• The provision of specific employment opportunities within segregated business services. Although these are designed as "transitional" services (teaching work skills needed to move into integrated employment), many people remain in such services for the duration of their working life. The types of work performed in business services include mailing and packaging services, cleaning, gardening and landscaping, timberwork, metal fabrication, farming and sewing.

Workers with developmental disabilities have historically been paid less for their labor than those in the general workforce, although this is gradually changing with government initiatives, the enforcement of anti-discrimination legislation and changes in perceptions of capability in the general community. 

In the United States, a variety of initiatives have been launched in the past decade to reduce unemployment among workers with disabilities—estimated by researchers at over 60%. Most of these initiatives are directed at employment in mainstream businesses. They include heightened placement efforts by the community agencies serving people with developmental disabilities, as well as by government agencies. 

Additionally, state-level initiatives are being launched to increase employment among workers with disabilities. In California, the state senate in 2009 created the Senate Select Committee on Autism and Related Disorders. The Committee has been examining additions to existing community employment services, and also new employment approaches. Committee member Lou Vismara, chairman of the MIND Institute at University of California, Davis, is pursuing the development of a planned community for persons with autism and related disorders in the Sacramento region. Another committee member, Michael Bernick, the former director of the state labor department, has established a program at the California state university system, starting at California State University East Bay, to support students with autism on the college level. Other Committee efforts include mutual support employment efforts, such as disability job networks, job boards, and identifying business lines that build on the strengths of persons with disabilities.

Day services

Non-vocational day services are usually known as day centers, and are traditionally segregated services offering training in life skills (such as meal preparation and basic literacy), center-based activities (such as crafts, games and music classes) and external activities (such as day trips). Some more progressive day centers also support people to access vocational training opportunities (such as college courses), and offer individualized outreach services (planning and undertaking activities with the individual, with support offered one-to-one or in small groups). 

Traditional day centers were based on the principles of occupational therapy, and were created as respite for family members caring for their loved ones with disabilities. This is slowly changing, however, as programs offered become more skills-based and focused on increasing independence.

Advocacy

Advocacy is a burgeoning support field for people with developmental disabilities. Advocacy groups now exist in most jurisdictions, working collaboratively with people with disabilities for systemic change (such as changes in policy and legislation) and for changes for individuals (such as claiming welfare benefits or when responding to abuse). Most advocacy groups also work to support people, throughout the world, to increase their capacity for self-advocacy, teaching the skills necessary for people to advocate for their own needs.

Other types of support

Other types of support for people with developmental disabilities may include

• therapeutic services, such as speech therapy, occupational therapy, physical therapy, massage, aromatherapy, art, dance/movement or music therapy;
• supported holidays;
• short-stay respite services (for people who live with family members or other unpaid carers);
• transport services, such as dial-a-ride or free bus passes;
• specialist behavior support services, such as high-security services for people with high-level, high-risk challenging behaviors;
• specialist relationships and sex education.

Programs are set up around the country in hopes to educate individuals with and without developmental disabilities. Studies have been done testing specific scenarios on how what is the most beneficial way to educate people. Interventions are a great way to educate people, but also the most time consuming. With the busy schedules that everybody has, it is found to be difficult to go about the intervention approach. Another scenario that was found to be not as beneficial, but more realistic in the time sense was Psychoeducational approach. They focus on informing people on what abuse is, how to spot abuse, and what to do when spotted. Individuals with developmental disabilities don't only need the support programs to keep them safe, but everybody in society needs to be aware of what is happening and how to help everybody prosper.

Mutagenesis

From Wikipedia, the free encyclopedia

 

Mutagenesis /mjuːtəˈdʒɛnɪsɪs/ is a process by which the genetic information of an organism is changed, resulting in a mutation. It may occur spontaneously in nature, or as a result of exposure to mutagens. It can also be achieved experimentally using laboratory procedures. In nature mutagenesis can lead to cancer and various heritable diseases, but it is also a driving force of evolution. Mutagenesis as a science was developed based on work done by Hermann Muller, Charlotte Auerbach and J. M. Robson in the first half of the 20th century.

Background

DNA may be modified, either naturally or artificially, by a number of physical, chemical and biological agents, resulting in mutations. Hermann Muller found that "High temperatures" have the ability to mutate genes in the early 1920s, and in 1927, demonstrated a causal link to mutation upon experimenting with an x-ray machine and noting phylogenetic changes when irradiating fruit flies with relatively high dose of X-rays. Muller observed a number of chromosome rearrangements in his experiments, and suggested mutation as a cause of cancer. The association of exposure to radiation and cancer had been observed as early as 1902, six years after the discovery of X-ray by Wilhelm Röntgen and radioactivity by Henri Becquerel. Muller's contemporary Lewis Stadler also showed the mutational effect of X-ray on barley in 1928, and ultraviolet (UV) radiation on maize in 1936. In 1940s, Charlotte Auerbach and J. M. Robson, found that mustard gas can also cause mutations in fruit flies.

While changes to the chromosome caused by X-ray and mustard gas were readily observable to the early researchers, other changes to the DNA induced by other mutagens were not so easily observable, and the mechanism may be complex and takes longer to unravel. For example, soot was suggested to be a cause of cancer as early as 1775, and coal tar was demonstrated to cause cancer in 1915. The chemicals involved in both were later shown to be polycyclic aromatic hydrocarbons (PAH). PAHs by themselves are not carcinogenic, and it was proposed in 1950 that the carcinogenic forms of PAHs are the oxides produced as metabolites from cellular processes. The metabolic process was identified in 1960s as catalysis by cytochrome P450 which produces reactive species that can interact with the DNA to form adducts,; the mechanism by which the PAH adducts give rise to mutation, however, is still under investigation. 

Mammalian nuclear DNA may sustain more than 60,000 damage episodes per cell per day, as listed with references in DNA damage (naturally occurring). If left uncorrected, these adducts, after misreplication past the damaged sites, can give rise to mutations. In nature, the mutations that arise may be beneficial or deleterious—this is the driving force of evolution. An organism may acquire new traits through genetic mutation, but mutation may also result in impaired function of the genes, and in severe cases, cause the death of the organism. In the laboratory, however, mutagenesis is a useful technique for generating mutations that allows the functions of genes and gene products to be examined in detail, producing proteins with improved characteristics or novel functions, as well as mutant strains with useful properties. Initially, the ability of radiation and chemical mutagens to cause mutation was exploited to generate random mutations, but later techniques were developed to introduce specific mutations. 

Humans on average naturally pass 60 new mutations to their children but fathers pass more mutations depending on their age, transmitting an average of two new mutations with every additional year of their age to the child.

Distinction between a mutation and DNA damage

DNA damage is an abnormal alteration in the structure of DNA that cannot, itself, be replicated when DNA replicates. In contrast, a mutation is a change in the nucleic acid sequence that can be replicated; hence, a mutation can be inherited from one generation to the next. Damage can occur from chemical addition (adduct), or structural disruption to a base of DNA (creating an abnormal nucleotide or nucleotide fragment), or a break in one or both DNA strands. When DNA containing damage is replicated, an incorrect base may be inserted in the new complementary strand as it is being synthesized. The incorrect insertion in the new strand will occur opposite the damaged site in the template strand, and this incorrect insertion can become a mutation (i.e. a changed base pair) in the next round of replication. Furthermore, double-strand breaks in DNA may be repaired by an inaccurate repair process, non-homologous end joining, which produces mutations. Mutations can ordinarily be avoided if accurate DNA repair systems recognize DNA damage and repair it prior to completion of the next round of replication. At least 169 enzymes are either directly employed in DNA repair or influence DNA repair processes. Of these, 83 are directly employed in the 5 types of DNA repair processes.

Mechanisms

Mutagenesis may occur endogenously, for example, through spontaneous hydrolysis, or through normal cellular processes that can generate reactive oxygen species and DNA adducts, or through error in replication and repair. Mutagenesis may also arise as a result of the presence of environmental mutagens that induce changes to the DNA. The mechanism by which mutation arises varies according to the causative agent, the mutagen, involved. Most mutagens act either directly, or indirectly via mutagenic metabolites, on the DNA producing lesions. Some, however, may affect the replication or chromosomal partition mechanism, and other cellular processes.

Many chemical mutagens require biological activation to become mutagenic. An important group of enzymes involved in the generation of mutagenic metabolites is cytochrome P450. Other enzymes that may also produce mutagenic metabolites include glutathione S-transferase and microsomal epoxide hydrolase. Mutagens that are not mutagenic by themselves but require biological activation are called promutagens.

Many mutations arise as a result of problems caused by DNA lesions during replication, resulting in errors in replication. In bacteria, extensive damage to DNA due to mutagens results in single-stranded DNA gaps during replication. This induces the SOS response, an emergency repair process that is also error-prone, thereby generating mutations. In mammalian cells, stalling of replication at damaged sites induces a number of rescue mechanisms that help bypass DNA lesions, but which also may result in errors. The Y family of DNA polymerases specializes in DNA lesion bypass in a process termed translesion synthesis (TLS) whereby these lesion-bypass polymerases replace the stalled high-fidelity replicative DNA polymerase, transit the lesion and extend the DNA until the lesion has been passed so that normal replication can resume. These processes may be error-prone or error-free.

Spontaneous hydrolysis

DNA is not entirely stable in aqueous solution. Under physiological conditions the glycosidic bond may be hydrolyzed spontaneously and 10,000 purine sites in DNA are estimated to be depurinated each day in a cell. Numerous DNA repair pathways exist for DNA; however, if the apurinic site is not repaired, misincorporation of nucleotides may occur during replication. Adenine is preferentially incorporated by DNA polymerases in an apurinic site. 

Cytidine may also become deaminated to uridine at one five-hundredth of the rate of depurination and can result in G to A transition. Eukaryotic cells also contain 5-methylcytosine, thought to be involved in the control of gene transcription, which can become deaminated into thymine.

Modification of bases

Bases may be modified endogenously by normal cellular molecules. For example, DNA may be methylated by S-adenosylmethionine, and glycosylated by reducing sugars. 

Many compounds, such as PAHs, aromatic amines, aflatoxin and pyrrolizidine alkaloids, may form reactive oxygen species catalyzed by cytochrome P450. These metabolites form adducts with the DNA, which can cause errors in replication, and the bulky aromatic adducts may form stable intercalation between bases and block replication. The adducts may also induce conformational changes in the DNA. Some adducts may also result in the depurination of the DNA; it is, however, uncertain how significant such depurination as caused by the adducts is in generating mutation.

Alkylation and arylation of bases can cause errors in replication. Some alkylating agents such as N-Nitrosamines may require the catalytic reaction of cytochrome-P450 for the formation of a reactive alkyl cation. N⁷ and O⁶ of guanine and the N³ and N⁷ of adenine are most susceptible to attack. N⁷-guanine adducts form the bulk of DNA adducts, but they appear to be non-mutagenic. Alkylation at O⁶ of guanine, however, is harmful because excision repair of O⁶-adduct of guanine may be poor in some tissues such as the brain. The O⁶ methylation of guanine can result in G to A transition, while O⁴-methylthymine can be mispaired with guanine. The type of the mutation generated, however, may be dependent on the size and type of the adduct as well as the DNA sequence.

Ionizing radiation and reactive oxygen species often oxidize guanine to produce 8-oxoguanine.

DNA damage and spontaneous mutation

As noted above, the number of DNA damage episodes occurring in a mammalian cell per day is high (more than 60,000 per day). Frequent occurrence of DNA damage is likely a problem for all DNA- containing organisms, and the need to cope with DNA damage and minimize their deleterious effects is likely a fundamental problem for life.

Most spontaneous mutations likely arise from error-prone trans-lesion synthesis past a DNA damage site in the template strand during DNA replication. This process can overcome potentially lethal blockages, but at the cost of introducing inaccuracies in daughter DNA. The causal relationship of DNA damage to spontaneous mutation is illustrated by aerobically growing E. coli bacteria, in which 89% of spontaneously occurring base substitution mutations are caused by reactive oxygen species (ROS)-induced DNA damage. In yeast, more than 60% of spontaneous single-base pair substitutions and deletions are likely caused by trans-lesion synthesis.

An additional significant source of mutations in eukaryotes is the inaccurate DNA repair process non-homologous end joining, that is often employed in repair of double strand breaks.

In general, it appears that the main underlying cause of spontaneous mutation is error prone trans-lesion synthesis during DNA replication and that the error-prone non-homologous end joining repair pathway may also be an important contributor in eukaryotes.

Crosslinking

Some alkylating agents may produce crosslinking of DNA. Some natural occurring chemicals may also promote crosslinking, such as psoralens after activation by UV radiation, and nitrous acid. Interstrand cross-linking is more damaging as it blocks replication and transcription and can cause chromosomal breakages and rearrangements. Some crosslinkers such as cyclophosphamide, mitomycin C and cisplatin are used as anticancer chemotherapeutic because of their high degree of toxicity to proliferating cells.

Dimerization

UV radiation promotes the formation of a cyclobutyl ring between adjacent thymines, resulting in the formation of pyrimidine dimers. In human skin cells, thousands of dimers may be formed in a day due to normal exposure to sunlight. DNA polymerase η may help bypass these lesions in an error-free manner; however, individuals with defective DNA repair function, such as sufferers of xeroderma pigmentosum, are sensitive to sunlight and may be prone to skin cancer. 

Ethidium intercalated between two adenine-thymine base pairs.

Intercalation between bases

The planar structure of chemicals such as ethidium bromide and proflavine allows them to insert between bases in DNA. This insert causes the DNA's backbone to stretch and makes slippage in DNA during replication more likely to occur since the bonding between the strands is made less stable by the stretching. Forward slippage will result in deletion mutation, while reverse slippage will result in an insertion mutation. Also, the intercalation into DNA of anthracyclines such as daunorubicin and doxorubicin interferes with the functioning of the enzyme topoisomerase II, blocking replication as well as causing mitotic homologous recombination. 

Arrows indicates chromosomal breakages due to DNA damage

Backbone damage

Ionizing radiation may produce highly reactive free radicals that can break the bonds in the DNA. Double-stranded breakages are especially damaging and hard to repair, producing translocation and deletion of part of a chromosome. Alkylating agents like mustard gas may also cause breakages in the DNA backbone. Oxidative stress may also generate highly reactive oxygen species that can damage DNA. Incorrect repair of other damage induced by the highly reactive species can also lead to mutations.

Insertional mutagenesis

Transposons and viruses may insert DNA sequences into coding regions or functional elements of a gene and result in inactivation of the gene.

Effects on replication and DNA repair

While most mutagens produce effects that ultimately result in errors in replication, for example creating adducts that interfere with replication, some mutagens may directly affect the replication process or reduce its fidelity. Base analog such as 5-bromouracil may substitute for thymine in replication. Metals such as cadmium, chromium, and nickel can increase mutagenesis in a number of ways in addition to direct DNA damage, for example reducing the ability to repair errors, as well as producing epigenetic changes.

As a laboratory technique

Mutagenesis in the laboratory is an important technique whereby DNA mutations are deliberately engineered to produce mutant genes, proteins, or strains of organism. Various constituents of a gene, such as its control elements and its gene product, may be mutated so that the functioning of a gene or protein can be examined in detail. The mutation may also produce mutant proteins with interesting properties, or enhanced or novel functions that may be of commercial use. Mutant strains may also be produced that have practical application or allow the molecular basis of particular cell function to be investigated. 

Early methods of mutagenesis produced entirely random mutations; however, later methods of mutagenesis may produce site-specific mutation.

Types

• Directed mutagenesis
• Site-directed mutagenesis
• PCR mutagenesis
• Insertional mutagenesis
• Signature tagged mutagenesis
• Transposon mutagenesis
• Sequence saturation mutagenesis