RARE AUTISM SPECTRUM DISORDERS

Rett syndrome is relatively rare, affecting almost exclusively females, one out of 10,000 to 15,000. After a period of normal development, sometime between 6 and 18 months, autism-like symptoms begin to appear. The little girl’s mental and social development regresses—she no longer responds to her parents and pulls away from any social contact. If she has been talking, she stops: she cannot control her feet: she wrings her hands. Some of the problems associated with Rett syndrome can be treated. Physical, occupational and speech therapy can help with problems of coordination, movement and speech.

Scientists sponsored by the national institute of child health and human development have discovered that a mutation in the sequence of a single gene can cause Rett syndrome. This discovery may help doctors slow or stop the progress of the syndrome. It may also lead to methods of screening for Rett syndrome, thus enabling doctors to start treating these children much sooner, and improving the quality of life these children experience.

What are the autism spectrum disorders?

The autism spectrum disorders are more common in the pediatric population than are some better known disorders such as diabetes, spinal befida, or Down syndrome. Prevalence studies have been done in several states and also in the Untied Kingdom, Europe and Asia. A recent study of a U.S. metropolitan area estimated that 3.4 of every 1,000 children 3-10 years old autism. This wide range of prevalence points to need for earlier and more accurate screening for the symptoms of ASD.

The earlier the disorder is diagnosed the sooner the child can be helped through treatment interventions, pediatricians, family physician, day-care providers, teachers, and parents may initially dismiss signs of ASD, optimistically thinking the child is just a little slow and will catch up. Although early intervention has a dramatic impact on reducing symptoms and increasing a child’s ability to grow and learn new skills, it is estimated that only 50 percent of children are diagnosed before kindergarten.

All children with ASD demonstrate deficits in 1) social interaction, 2) verbal and nonverbal communication, and 3) repetitive behaviors or interests. In addition, they will often have unusual responses to sensory experiences, such as certain sounds or the way objects look.

Each of these symptoms runs the gamut from mild to severe. They will present in each individual child differently. For instance, a child may have little trouble learning to read but exhibit extremely poor social interaction. Each child will display communication, social, and behavioral patterns that are individual but fit into the overall diagnosis of ASD.

Children with ASD do not follow the typical patterns of child development. In some children, hints of future problems may be apparent from birth. In most cases, the problems in communication and social skills become more noticeable as the child lags further behind other unusual behaviors become apparent. Some other children start off well enough. Oftentimes between 12 and 36 months old, the differences in the way they react to people and other unusual behaviors become apparent. Some parents report the change as being sudden, and their children start to rejects people, act strangely and lose language and social skills they had previously acquired. In other cases, there is a plateau, or leveling, of progress so that the difference between the child with autism and other children the same age becomes more noticeable.

ASD is defined by a certain set of behaviors that can range from the very mild to the severe. The following possible indicators of ASD were identified on the Public Health Training Network Web cast, Autism among US.

MULTIPLE VULNERABILITIES

Many, if not most, of the people with mental retardation convicted of capital murder are doubly and triply disadvantaged. In general, America’s prison population is made up disproportionately of poor people, minorities, the mentally ill, and those who were abused as children. Not surprisingly, the mentally retarded people who become enmeshed in the criminal justice system usually share one or more of these characteristics: many of them come from poor families, suffered from severe abuse as children, and/or face mental illness in addition to their retardation.

A history of severe childhood abuse is particularly common among defendants with mental retardation convicted of capital murder. While the relationship between abuse and adult behavior is complex, "Strong evidence exists that a person who was abused as a child is at risk of suffering long-term effects that may contribute to his violent behavior as an adult," particularly if the abuse was severe physical abuse that caused serious injury to the child. The long-term negative effects of childhood abuse may be even greater for people whose cognitive abilities are impaired and whose ability to navigate in the world is already seriously compromised by mental retardation.

Luis Mata was executed in Arizona in 1996, convicted of rape and murder. Mata suffered organic brain damage from multiple medical traumas and had an I.Q. tested variously between 63 and 70. Mata's alcoholic father beat all of his sixteen children, but he picked primarily on Luis, subjecting him to constant physical abuse--kicking him, punching him, and beating him with electrical cords. When Luis Mata was six, he fall off a truck, badly fracturing his skull, but his family was too poor to obtain medical treatment for him. This and other medical traumas may have contribute to his neurological deficits.

Freddie Lee Hall, with an I.Q. of 60, is on death row in Florida, convicted of killing a young pregnant woman, Hall was one of seventeen children in an impoverished family. As a child, he was "tortured by his mother, sometimes stuffed in a sack and swung over a fire, or tied to the rafters and beaten." His mother even encouraged neighbors to beat her son, and she buried him in the ground as a "cure" for his asthma.

Robert Anthony Carter, who had mental retardation, was convicted of a murder committed when he was seventeen and was executed in 1998. One of sic children, Carter was abused by both his mother and stepfather, who whipped and beat him with belts and cords. Carter's siblings would be forced to hold him down while his mother beat him. At other times, his mother would wait until Carter was asleep and then begin to whip him. He also suffered from several serious head injuries as a child - including one in which he was hit so hard with a baseball bat on the head that the bat broke.

Many capital defendants with mental retardation also suffer from mental illness. Although the two conditions are often confused, they are different disorders. Mental illness almost always includes disturbance of some sort in emotional life; intellectual functioning may be intact, except where thinking breaks with reality (as in hallucinations). A person who is mentally ill, e.g. who is bipolar or suffers from schizophrenia, can have a very high I.Q., while mentally retarded person always has a low I.Q.  A person who is mentally ill, e.g. who is bipolar or suffers from schizophrenia, can have a very high I.Q., while a mentally retarded person always has a low I.Q. A person who is mentally ill may improve or be cured with therapy or medication, but mental retardation is a permanent state. Finally, mental illness may develop during any stage of life, while mental retardation is manifest by the age of eighteen. The percentage of mentally retarded people who are also mentally ill is not known with any certainty; estimates vary from 10 percent to 40 percent. Persons who suffer from both mental illness and mental retardation are particularly disadvantaged in dealing with the criminal justice system because each condition can compound the effects of the other.

Nollie Lee Martin had an I.Q. of 59 and was further mentally impaired as a result of several serious head injuries he had received in childhood. As a child he was physically and sexually abused and came from a family with a history of schizophrenia. His mental history included psychosis, suicidal depression, paranoid delusions, and self-mutilation. After being convicted in 1978 of kidnapping, robbery, and murder in Florida, Martin spent more than thirteen years on death row mostly incoherent and rocking back and forth on the floor of his cell. He required constant medication for his mental illness and hallucinations. He beat his head and fists against the cell wall and would mutilate himself. He was executed in 1992.

Emile Duhamel was convicted of the aggravated sexual assault and murder of a nine-year-old girl in 1984. He had an I.Q. of 56 and organic brain disease and suffered as well from paranoid schizophrenia and dementia. After a decade of legal proceedings over his competency for execution, Duhamel died in his Texas death row cell in 1998.

For the most part, statutes prohibiting the execution of persons with mental retardation adopt a version of this AAMR definition Seven States and the federal government do not specify an I.Q. level in their definition, making this an issue for the court to determine based on expert testimony. Two state statutes say that an I.Q. of 70 or below "shall be presumptive evidence of mental retardation," thus leaving open the possibility that a person whose I.Q. is above 70 may also, through expert testimony, estabilish his or her mental retardation.

The intellectual capacity of children was historically the benchmark for assessing the extent of retardation. In 1910, the American Association on Mental Deficiency identifies the three "levels of impairment" characterizing the "feebleminded”: there were "idiots", people "whose development is arrested at the level of a 2 year old";imbeciles," people whose development is equivalent to that of a 2 to 7 year old at maturity"; and morons," people "whose mental development is equivalent to that of a 7 to 12 year old at maturity." Fred J. Biasini, et al., The  terminology entered common discourse as epithets reflecting the country's shameful history of prejudice and mistreatment of people with mental retardation. The punitive, exclusionary, and racist historical manipulation of the concept of "mental retardation" are addressed in Robert Perske, Deadly Innocence?

With the upper ceiling on mental retardation reduced from an I.Q. of 85 to an I.Q. of 70, far fewer Americans are today diagnosed as "mentally retarded" than before. Although the lower I.Q. ceiling for mental retardation was agreed upon in part to avoid applying stigmatizing labels to so many people whose intelligence was below average, the changed I.Q. ceiling ironically had the effect of cutting from social services such as special education many people who would have otherwise benefited from the extra support. Scholars have emphasized that because of the possibilities of testing error, a person with an I.Q. of up to 75 should be considered "retarded" if the diagnoses is necessary to ensure access to special education or other assistance.

MICRO-CEPHALY

What is microcephaly?

Microcephaly is a condition that is present at birth in which the baby’s head is much smaller than normal for an infant of that age and gender. “Micro” means small and cephaly refers to head. Most children with microcephaly also have a small brain and mental retardation. However, some children with small heads have normal intelligence.

What causes microcephaly?

Microcephaly is either caused by exposure to harmful substance during the fetal development, or it may be associated with genetic problems or syndromes that may have a tendency to run in families.

Theories suggest that the following ay predispose a fetus to problems that affect the normal development of the head during pregnancy:

• Exposure to hazardous chemicals/substance
• Exposure to retardation
• Lack of proper vitamins and nutrients in the diet
• Infection
• Prescription or illegal drug and alcohol consumption
• Maternal diabetes

Microcephaly can occur alone or in association with other health problems, and may occur from inheritance of an auto-somal recessive, or rarely, an auto-somal dominant gene. Acquired microcephaly may occur after birth due to various brains injuries such as lack of oxygen or infection.

Auto-somal recessive and auto-somal dominant are to patterns in which genes are inherited in a family. Genes determine out traits, such as eye color and blood type, and can also cause disease. Auto-somal means that both males and females are equally affected. Recessive means that two copies of the gene, one inherited from each parent, are necessary to have the condition (in this case, microcephaly). After parents have had one child with auto-somal recessive microcephaly, there is a 25 percent chance, or one in

four chances, with each pregnancy, to have another child with microcephaly.

What are symptoms of Microcephaly?

The following are the most common symptoms of microcephaly. However, each child may experience symptoms differently. Symptoms may include:

• Appearance of the baby’s head is very small
• High-pitched cry
• Poor feeding
• Seizures
• Increased movement of the arms and legs (spasticity)
• Developmental delays
• Mental retardation

The symptoms of microcephaly may resemble other conditions or medical problems. Always consult your child’s physician for a diagnosis.

How is microcephaly diagnosed?

Microcephaly may be diagnosed before the birth by prenatal ultrasound, a diagnostic imaging technique which uses the high frequency sound waves and a computer to create images of blood vessels, tissues, and organs. Ultrasounds are used to view the internal organs as they function, and to assess the blood flow through various vessels.

In many cases, microcephaly may not be evident by ultrasound until the third trimester, and therefore may not be seen on ultrasound preformed earlier in pregnancy. The diagnosis of microcephaly may be made at birth or later in the infancy. The baby’s head circumference is much smaller than normal. During the physical examination, the physician obtains a complete prenatal and birth history of the child. In older babies and children, the physician may also risk if there are a family history of the microcephaly or others medical problems. The physician will also ask about developmental milestones since microcephaly can be associated with other problems, such as mental retardation. Developmental delays may require further medical follow up for underlying problems.

A measurement of the circumference of the child’s head is taken and compared to a scale that can identify normal and abnormal ranges.

Diagnostic tests that may be performed to confirm the diagnosis of microcephaly and identify abnormalities in the brain include:

• Head circumference – this measurement is compared with a scale for normal growth and size
• X-ray – a diagnostic test which uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film.
• Computed tomography scan (also called a CT or a CAT scan). – A diagnostic imaging procedure that uses a combination of x-rays and computer technology to produce cross-sectional images (often called slices), both horizontally and vertically, of the body. A CT scan shows detailed images of any part of the body, including bones, muscles, fat and organs. CT scan are more detailed than the x-rays.
• Magnetic resonance imaging (MRI) – a diagnostic procedure that uses a combination of large magnets, radiofrequencies, and a computer to produce detailed images of organs and structures within the body.
• Blood tests
• Urine tests

Life-long considerations for a child with microcephaly:

There is no treatment for microcephaly that will return the baby’s head to a normal size or shape. Since microcephaly is a life-long condition that is not correctable, management includes focusing on preventing or minimizing deformities and maximizing the child’s capabilities at home and in the community. Positive reinforcement will encourage the child to strengthen his/her self-esteem and promote as much independence as possible.

The full extent of the problem is usually not completely understood immediately after birth, but may be revealed as the child grows and develops.

Children born with microcephaly require frequent examination and diagnostic testing by their physician to monitor the development of the head as the child grows. The medical team work hard with the child’s family to provide education and guidance to improve the health and well being of the child.

Genetic counseling may be recommended by the physician to provide information on the recurrence risks for the disorder and any available testing.

Mental Retardation in America: A Historical Reader_III

(Part-III)

A problem in reading the various chapters of this book, which is also true of working with mental retardation in the real world, is the wide range of persons who are classified as mentally retarded. This is illustrated at one extreme by the vignettes of formerly institutionalized young men inducted into the armed services during World War II, who, in many instances, served effectively. In that time of great social need, it was these soldiers’ abilities, not their disabilities that counted. At the other extreme, in my work I encounter youngsters whose mental retardation is insignificant as compared with their severe disorders of behaviors. Finally, it is the behavioral disorder and not intellectual retardation that is decisive and destructive to family life. This suggests a fundamental flaw in the concept of mental retardation: “mental” life constitutes not only intellectual ability (as measured by IQ tests), but also attributes that are emotional and moral (for lack of a better word) as well. The overvaluation of IQ seems to be leading to decisions regarding capital punishment. The underestimation of emotional and behavioral dyscontrol and the systematic abolition of residential placement for children still give rise to situations as burdensome and cruel for families as any described in this book.

Mental Retardation in America tells a story with a broad sweep—how a society has dealt with mental retardation through profound social and scientific changes. At this end, we are in many respects back where we started, with retarded children cared for within their families. The plot is powerful, the questions profound, and the answers that have been given over the years show the usual flaws and faults of most human endeavors.

Mental Retardation in America: A Historical Reader_II

(Part-II)

The second equally influential study was The Kalliakak Family; A Study in the Heredity of Feeble Mindedness by Henry Goddard, 1912. Inspired by the new Mendelism, the study traced back six generations of the family of a young institutionalized woman and found an appalling amount of defectiveness. Yet there was also information about “a good family of the same name.” it emerged, of course, that the forebear met “a feeble-minded girl by whom he became the father of a feeble-minded son.”  Subsequently the father “married a respectable girl of good family, “by whom he produced children with “a marked tendency toward professional careers,” who had “married into the best families. . . . Signers of the declaration of independence ….etc.” Goddard invented the pseudonym kallikak by combining a Greek root meaning “beauty” (kallos) with one meaning “bad” (kakos). The lesson was clear and dramatic: the study linked medical and moral deviance and fused the new Mendelian laws with the old biblical injunction that “the sins of the fathers shall be visited on the sons”

These ideas fueled the eugenics movement and the campaign for sterilization of the mentally retarded, which, according to the editors, was “the nadir of the American experience with mental retardation.” The Supreme Court upheld eugenic sterilization in 1927, with Oliver Wendell Holmes’s pronouncement that “three generations of imbeciles is enough.” After World War II and the revelation of Nazi experience with eugenics, support for sterilization faded. The sterilization issue inspired writers—especially Steinbeck and Faulkner—to explore the lives of mentally, retarded characters in works that are sensitively reviewed in this book.

After World War II, and with the ensuing general prosperity, the activism of parents on the behalf of their physically and mentally handicapped children arose; such activism was inspired by a new belief in human rights after the Nazi atrocities and by the “intense middle-class familialism” of the postwar years. This attitude led to a desire that retarded children be a part of their families and receive the same degree of care and concern—and ultimately the same services, including education—as “normal children.” Deinstitutionalization followed, and in 1975 Congress enacted a guarantee of free public education to children with disabilities by passing the Education for All handicapped Children Act. The special role of President John F. Kennedy, his sister Eunice Kennedy Shriver, and the rest of the Kennedy family in supporting services—including the Special Olympics, an important example of the “ideology of normalization”—and advocating for the mentally retarded persons should be noted. Further steps were taken to bring persons with mental retardation under the equal protection of the laws as American citizens; these measures included the ruling that people should be served in the least restrictive environment and the decisions that established the community as the site of services for people with mental retardation and disallowed that condition as the sole justification for institutionalization. 

Mental Retardation in America: A Historical Reader_I

(Part-I)

This is highly readable and well-edited historical anthology, a wide-ranging collection that deals with mental retardation over two centuries. The focus is on the views and actions of society. The book deserves perusal by anyone interested in mental retardation.

            The editor consider the history of retardation in the context of general history of the recognition of “Mongolism” by John Landon Down, the racial detour that accompanied that recognition, and eventual delineation of trisomy 21 as the cause; the other is a treatise on the pathology of mental retardation by Dr. William Fish, of the Albany Medical College, which he wrote in 1879. The treatise is welcome fare for a physician reader. Discussed are consanguine marriages, abnormalities of the “minute structure of the brain,” microcephaly, epilepsy, and cretinism in Switzerland (…the precise element or elements producing it have not as yet been determined”), hydrocephaly, trauma and paralysis. Equally clear is Dr. Fish’s prescription, “The necessity for training schools and asylums for the reception of the idiotic and imbecile is now unquestioned….[Its is] the duty of society to provide for these feeble ones… An idiot child in the family of a laboring man is a burden weighing heavily upon him and may indirectly by the means of rendering the whole family dependent on the state for support.”

This rather straightforward approach contrasts with the complexity of the history of mental retardation in American society, which is reflective of the larger course of events in American society. The full sweep of that history is outlined from retarded persons functioning as integral parts of their families in the Colonial and early rural United Stats to the almshouses of the late 18^th and early 19^th centuries, where the poor, infirm, insane and idiotic were conflated in conditions of indescribable depravity. Later came the specialization of institution for epileptics and the retarded. The pressures of urbanization and industrialization the needs of immigrant families and the application of scientific concepts to the definition of retardation, e.g., the advent of intelligence tests and the familiar categorization of the retarded as idiots, imbeciles and morons) led to the heyday of institutionalization. Between 1870 and 1880, there was a fivefold increase in the number of feeble-minded people.

Social forces and scientific interest led to intense focus on and very convoluted thinking about the retarded. The 19^th century view of degeneracy (roughly synonymous with bad heredity) led theorists to conceive of social problems such as insanity, poverty, intemperance and criminality as well as idiocy as interchangeable. This view was expounded in “The Jukes” A Study Crime, pauperism Disease and heredity by Richard Dugdale, 1875, a study of a rural clan that over seven generations produced 1200 bastards, beggars, murderers, prostitutes, thieves and syphilitics. 

MENTAL RETARDATION AND CRIME

The vast majority of people with mental retardation never break the law. Nevertheless, mentally retarded people may be disproportionately represented in America’s persons. Although people with mental retardation constitute somewhere between 2.5 and 3 percent of U.S. population, experts estimate they may constitute between 2 and 10 percent of the prison population. The disproportionate number of persons with mental retardation in the incarcerated population most likely reflects the fact that people with this impairment who break the law are more likely to be caught, more likely to confess and be convicted, and less likely to be paroled. It may also be that some of the people with mental retardation who are serving the prison sentences are innocent, but they confessed to crimes they did not commit because of their characteristic suggestibility and desire to please authority figures. See Section IV below.

As with people of normal intelligence, many factors can prompt people with mental retardation to commit crimes, including unique personal experiences, poverty, environmental influences and individual characteristics. Attributes common to mental retardation may, in particular cases, also contribute to criminal behavior. The very vulnerabilities that cause problems for people with mental retardation in the most routine daily interactions can, at times, lead to tragic violence.

Many people with mental retardation are picked upon, victimized and humiliated because of their disability. The desire for approval and acceptance and the need for protection can lead a person with mental retardation to do whatever others tell him. People with mental retardation can fall prey when people with greater intelligence decide to take advantage of them, and they become the unwitting tools of others. Many of the cases in which people with mental retardation have committed murder involved other participants—who did not have mental retardation—and/or occurred in the context of crimes, often robberies, that were planned or instigated by other people. As one expert in mental retardation has noted, “Most people with mental retardation don’t act alone. They are usually dependent. They are never the ringleader or the leader of gang.”

“Joe, a mentally retarded man, admired tough-talking local drug dealers and sought to befriend them. One day his drug dealer “friends” gave Joe a gun and instructed him to go into a store and take money from the clerk. They told him, however, “Don’t shoot the guy unless you have to. “Joe hid for while, and then entered the store, but he forgot his instructions. “He panicked and couldn’t remember the plan. He shot the guy and forgot to rob the store.”

Billy Dwayne White, a teenager with mental retardation, allied himself with older men in the neighborhood, one of whom testified: “When Billy started hanging around us he was real scared and timed. We told him that he would have to change. We taught him how to steal. We would get him to do things that were wrong by telling him that he was a coward if he didn’t and that he could only be in our gang if he showed us that he had courage…we could persuade him to do these things because he was easily misled.

People with mental retardation may also engage in criminal behavior because of their characteristically poor impulse control, difficulty with long-term thinking, and difficulty handling stressful and emotionally fraught situations. They may not be able to predict the consequences of their acts or resist a strong emotional response. The homicides committed by the people with mental retardation acting alone are almost without exception unplanned, spur of the moment acts of violence in the context of panic, fear, or anger, often committed when another crime, such as a robbery, went wrong. For example, William Smith, I.Q. 65, tried to take money from “old Dan,” a friendly elderly storekeeper he had known all his life. When Dan resisted, smith panicked and lashed out, killing him.

Low intellectual skills and limited planning capacities mean that people who have mental retardation are more likely than people of normal intelligence to get caught if they commit crimes. As a result, they make goof “fall guys” for more sophisticated criminals. A suspect with mental retardation is also less likely to know how to avoid incriminating himself, hire a lawyer and negotiate a plea.

MANIFESTATIONS BEFORE THE AGE OF EIGHTEEN

Mental retardation is present from childhood. It can be caused by any condition which impairs development of the brain before, during, or after birth. The causes are numerous: hereditary factors; genetic abnormalities (e.g. Down’s syndrome); poor prenatal care; infections during pregnancy; abnormal delivery; illness during infancy; toxic substances )e.g. consumption of alcohol by the pregnant mother; exposure of the child to lead, mercury or other environmental toxins); physical abuse; and malnutrition, among others. Regardless of the cause, part of the definition of mental retardation is that it manifests itself during an individual’s developmental period, usually deemed to be birth through age eighteen. Many psychiatrists argue that the age before which signs of retardation must become manifest should be raised from eighteen to twenty-two, to reflect the difficulties in obtaining accurate age records for many people with this disability and the differing rates at which people develop.

An ordinary adult cannot suddenly “become” mentally retarded. An adult may, for reasons related to accident or illness, suffer a catastrophic loss in intellectual functioning and adaptive skills, but this would not make him or her “mentally retarded.” Since by definition mental retardation starts during childhood. One implications of this is that mental retardation is virtually impossible for an adult to fake: when evaluating whether an adult is mentally retarded, testers look not only at I.Q. test results, but also at school reports, childhood test records, and other evidence that would show whether his or her intellectual and adaptive problems developed during childhood.

Early diagnosis can help the person with mental retardation obtain access to appropriate special education, training, clinical programs, and social services during important developmental years – as well as through life. With help from family, social workers, teachers, and friends, many mentally retarded people succeed in simple jobs, maintain their own households, marry, and give birth to children of normal intelligence. But, although support and services can improve the life functioning and opportunities for a person with retardation, they cannot cure the condition. There is no “Cure’ or mental retardation.

Frequently Asked Questions about Mental Retardation

Where can I find detailed information about the 2002 AAMR definition of mental retardation?

The released 10^th edition of Mental Retardation: Definition, Classification, and systems of supports discusses the 2002 AAMR definition and classification system in great detail. It presents the latest thinking about the mental retardation and includes important tools and strategies to determine if an individual has mental retardation along with detailed information about developing a personal plan of individualized supports. It is an available from AAMR through the Website.

What is the official AAMR definition of mental retardation?

Mental retardation Is a disability characterized by significant limitations both in intellectual functioning and in adaptive behavior as expressed in conceptual, social, and practical adaptive skills. This disability originates before the age of 18.

A complete and accurate understanding of mental retardation involves realizing that mental retardation refers to a particular state of functioning that begins in childhood, has many dimensions, and is affected positively by individualized supports. As a model of functioning, it includes the contexts and environment within which the person functions and interacts and requires a multidimensional and ecological approach that reflects the interaction of the individual with the environment, and the outcomes of that interaction with regards to independence, relationship, societal contributions, participation in school and community, and personal well being.

What factors must be considered when determining if a person has mental retardation and developing an individualized support plan?

When using the AAMR definition, classification and systems of supports professionals

And other team members must:

1. Evaluate limitations in present functioning within the context of the individual’s age peers and culture;                                                                                                                       
2. Take into account the individual’s cultural and linguistic difference as well as communication, sensory, motor, and behavioral factors;                                                        
3. Recognize that within an individual limitations often coexist with strengths;                                                                                                                             
4. Describes limitations so that an individualized plan of needed supports can be developed; and                                                                                                                 
5. Provide appropriate personalized supports to improve the functioning of a person with mental retardation.

Has AAMR always had the same definition of mental retardation?

No. AAMR has updated the definition of mental retardation ten times since 1908. Changes in definition have occurred when there is new information, or there are changes in clinical practice or breakthroughs in scientific research. The 10^th edition of Mental Retardation: Definition, Classification and systems of supports contains a comprehensive update to the landmark 1992 system and provides important new information, tools and strategies for the field and for anyone concerned about people with Mental Retardation.

What is a disability?

A disability refers to personal limitations that represent a substantial disadvantage when attempting to function in society. A disability should be considered within the context of the environment, personal factors, and the need for individualized supports.

What are the causes of Mental Retardation?

The causes of mental retardation can be divided into biomedical, social behavioral and educational risk factors that interact during the life of an individual and /or across generations from parent to child. Biomedical factors are related to biologic process, such as genetic disorders or nutrition. Social factors are related to social and family interaction, such as child stimulation and adult responsiveness. Behavioral factors are related to harmful behaviors, such as mental substance abuse. And educational factors are related to harmful behaviors, such as family and educational supports that promote mental development and increases in adaptive skills. Also, factors present during one generation can influence the outcomes of the next generation. By understanding inter-generational causes appropriate supports can be used to prevent and reverse the effects of risk factors.

What is the AAMR Mission?

Founded in 1876, AAMR is the world’s oldest and largest interdisciplinary organization of professionals concerned about mental retardation. With headquarters in Washington, DC, AAMR has a constituency of more than 50,000 people and an active core membership of 7,500 in United States and in 55 other countries. The mission of AAMR is to promote progressive policies, sound research, effective practices, and universal rights for people with intellectual disabilities.

FACTORS IN LIFESTYLES OR ENVIRONMENT

One study has reported an association between low socioeconomics status and holo-prosencephaly risk. However, this observation has not been confirmed.

A case-control study found a suggestion of an association between cytogenetically normal holo-prosencephaly and maternal alcohol consumption during early pregnancy. Maternal smoking, respiratory illness medications, and salicylate-containing medication have also shown tera-togenic effects (Coren 2000). However, some of these associations were not statistically significant. Another study reported no significant link between alcohol, smoking, or x-ray exposure and holo-prosencephaly risk (Cohen 1989). An investigation failed identifies any significant association between holo-prosencephaly and proximity to various types of industry (Castilla 2000).

Maternal diabetes has been reported by several studies to increase holo-prosencephaly (Becerra 1990). It should be noticed that diabetes causes a series of metabolic disturbances, and these disturbances interfere with fetal development. Other metabolic disturbances, including cholesterol production, can affect the sonic Hedgehog (Shh) signaling pathway (Cohen 2002).

Other maternal factors that have been tentatively associated with holo-prosencephaly, based on anecdotal evidence or studies involving small numbers of cases, include retinoic acid, salicylate, estrogen/progestin, anticonvulsant, weight reduction diets and/or low maternal weight, previous pregnancy loss, and congenital infection with cytomegalovirus, rubella, and toxoplasmosis (Croen 1996).  One survey that involved a small number of cases failed to identify any association between holo-prosencephaly and retinoic acid (De Wals 1991). A case-control study suggests that risk of holo-prosencephaly may be increased with maternal use of misoprostol, a synthetic prostaglandin used for elective termination (Orioli 2000).

There is no information available about the use of multivitamins and folic acid to reduce the incidence of holo-prosencephaly (Czeizel 2004). Maternal residence and vicinity to solid waste incinerators or landfills does not increase the incidence of holo-prosencephaly (Cordier 2004), nor does maternal exposure to pesticides (Berkowitz 2003), biological solvents (Wennborg 2005), or marijuana (Fried 2000).

Prevalence

Birth prevalence in the United States for hypo-plastic left heart syndrome is no currently known. The rate in Texas for 1999-2002 deliveries was 1.21 cases per 10,000 live births (Texas Department of State Health Services 2005). Differences in prevalence may be due to differences in case inclusion criteria.

Diagnosis, Treatment and Prevention of Mental Retardation

Diagnosis

If mental retardation is suspected, a comprehensive physical examination and medical history should be done immediately to discover any organic cause of symptoms. Such conditions as hyperthyroidism and PKU are treatable. If these conditions are discovered early, the progression of retardation can be stopped and, in some cases, partially reversed. If a neurological or neurophychologist for testing.

A complete medical, family, social, and educational history is compiled from existing medical and school records (if applicable) and from interviews with parents. Children are given intelligence tests to measure their learning abilities and intellectual functioning. Such tests include the Stanford-Binet Intelligence

Scale, the Wechsler Intelligence scales, the Wechsler Preschool and Primary scale of Intelligence, and the Kaufman Assessment battery for Children. For infants, the Bayley Scales of Infant Development may be used to access motor, language, and problem-solving skills. Interviews with parents or other caregivers are used to access the child’s daily living, muscle control, communication, and social skills. The Woodcock-Johnson Scales of Independent Behavior and the Vineland Adaptive Behavior Scales (VABS) are frequently used to evaluate these skills.

Treatment

Federal legislation entitles mentally retarded children to free testing and appropriate, individualized education and skills training within the school system from ages three to 21. For children under age of three, many states have established early intervention programs that assess children, make recommendation, and begin treatment programs. Many day school are available to help train retarded children in such basic skills as bathing and feeding themselves.

Extracurricular activities and social programs are also important in helping retarded children and adolescents gain self-esteem.

Training n independent living and job skills is often begun in early adulthood.

The level of training depends on the degree of retardation. Mildly retarded people can often acquire the skills needed to live independently and hold an outside job. Moderate to profoundly retarded persons usually require supervised community living in a group home or other residential setting.

Family therapy can help relatives of the mentally retarded develop coping skills. It can also help parents deal with feeling of guilt or anger. A supportive, warm home environment is essential to help mentally retarded reach their full potential.

Prognosis

People with meld to moderate mental retardation are frequently able to achieve some self-sufficiency and to lead happy and fulfilling lives. To reach these goals, they need appropriate and consistent educational, community, social, family and vocational supports. The outlook is less promising for those with severe to profound retardation. Studies have shown that these persons have a shortened life expectancy. The diseases that are usually associated with severe retardation may cause the shorter life span. People with Down syndrome will develop the brain changes that characterize Alzheimer’s disease in later life and may develop the clinical symptoms of this disease as well.

Prevention

Immunization against disease such as measles and Hib prevents many of the illness that can cause mental retardation. In addition, all children should undergo routine developmental screening as part of their pediatric care. Screening is particularly critical for those children who may be neglected or undernourished or may live in disease-producing condition. Newborn screening and immediate treatment for PKU and hyperthyroidism can usually catch these disorders early enough to prevent retardation.

Good prenatal care can also help prevent mental retardation. Pregnant women should be educated about the risks of alcohol consumption and the need to maintain good nutrition during pregnancy. Such tests as amniocentesis and Ultrasonography can determine whether a fetus is developing normally in the womb.

** DOWN SYNDROME **

Down syndrome or trisomy 21 (in British its called Down’s syndrome) is a genetic condition resulting from the presence of all or part of an extra 21^st chromosome. Down syndrome is characterized by a combination of major and minor abnormalities of body structure and function. Among features present in nearly all cases are impairment of learning and physical growth, and a recognizable facial appearance usually identified at birth. It is named after John Langdon Down, the British doctor who first described it in 1866.

Individuals with Down syndrome have lower than average cognitive ability, normally ranging from mild to moderate retardation. Some individuals may have low intelligence overall, but will generally have some amount of developmental disability, such as a tendency toward concrete thinking or naiveté. There are also a small number of individuals with Down syndrome with severe to profound mental retardation. The incidence of Down syndrome is estimated at 1 per 800 to 1 per 1000 births.

The common physical features of Down’s syndrome also appear in people with a standard set of chromosomes. They include a simian crease (a single crease across one or both palms), almond shaped eyes, shorter limbs, speech impairment, and protruding tongue. Health concerns for individuals with Down syndrome include a higher risk for congenital heart defects, gastro-esophageal reflux disease, recurrent ear infections, obstructive sleep apnea, and thyroid dysfunctions.

Early childhood intervention, screening for common problems, medical treatment where indicated, a conductive family environment, and vocational training can improve the overall development of children with Down syndrome. While some of the genetic limitations of Down syndrome cannot be overcome, education and proper care, initiated at any time, can improve quality of life.

History

Down syndrome is firstly characterized by English physician John Langdon Down as a distinct from of mental retardation in 1862, and in a more widely published report in 1866 entitles “Observation on an ethnic classification of idiots”. Due to John Langdon’s perception that children with Down syndrome shared physical facial similarities with those of Blumenbach’s Mongolian race, Down used terms such as mongolism and Mongolian idiocy. Idiocy was a medical term used at that time to refer to a severe degree of intellectual impairment. Down wrote that mongolism represented “retrogression”, the appearance of Mongoloid traits in the children of allegedly more advanced Caucasian parents.

By the 20^th century, Mongolian idiocy had become the most recognizable form of mental retardation. Most people with it were institutionalized. Few of the associated medical problems were treated, and most died in infancy or early adult life. With the rise of the eugenics movement, 22 of the 48 United States and a number of countries began programs of involuntary sterilization of individuals with Down syndrome and comparable degree of disability. The ultimate expression of this type of public policy was the German euthanasia program Aktion T-4 begun in 1940. Court challenges and public revulsion led to discontinuation or repeal of such programs during the decades after World War II.

Until the middle of the 20^th century, the cause of Down syndrome remained unknown, although the presence in all races the association with older maternal

Age, and the rarity of recurrence had been noticed. Standard medical texts assumed it was due to combination of inheritable factors which had not been identified. Other theories focused on injuries sustained during birth.

With the discovery of Karyotype techniques in the 1950s it became possible to identify abnormalities of chromosomal number or shape. In 1959, Professor Jerome Lejeune discovered that Down syndrome result from an extra chromosome. The extra chromosome was subsequently labeled as the 21^st,  and the condition as trisomy 21.

In 1961, a group of nineteen geneticists wrote to the editor of The Lancet suggesting that Mongolian idiocy had misleading can-notations, had become as embarrassing term, and should changed. The lancet supported Down’s syndrome. The World Health Organization (WHO) officially dropped references to mongolism in 1965 after a request by the Mongolian delegate.

In 1975, the United States National Institute of Health convened a conference to standardize the nomenclature of malformations. They recommended eliminating the possessive form: “the possessive use of an eponym should be discontinued, since the author neither had nor owned the disorder. While both the possessive and non-possessive forms are used in the general population, Down syndrome is the accepted term among professionals in the USA, Canada and other countries, While Down syndrome continues to be used in the United Kingdom and other areas.

Characteristics of Down syndrome

Example with Down syndrome may have some or all of the following physical characteristics: oblige eye fissures with small skin folds on the inner corner of the eyes, muscle hypotonia, a flat nasal bridge, a single palmar fold (simian crease), a protruding tongue (due to small oral cavity, poor muscle tone, and an enlarged tongue near the tonsils), a short neck, white spots on the iris known as Brush-field spots, excessive flexibility in joints, congenital heart defects, excessive space between large and second toe, and a single flexion furrow of the fifth finger. Most individuals with Down syndrome have mental retardation n the mild (IQ 50-70) to moderate range (IQ 35-50), with scores for children with Mosaic Down syndrome (explained below) some 10-30 points higher. In addition, individuals with Down syndrome can have serious abnormalities affecting any body system.

Cognitive development

Cognitive development in children with Down syndrome is quite variable. Many can be successful in school, while others struggle. Because of this variability in expression of Down syndrome, it is important to evaluate children individually. The cognitive problems that are found among children with Down syndrome can also be found among typical children. This means that parents can take advantage of general programs that are offered through the schools or other means. Children with Down syndrome have a wide range of abilities. It is not possible at birth to predict their capabilities. The identification of the best methods of teaching each particular child ideally begins soon after birth through early intervention programs.

Language skills show a difference between understanding speech and expressing speech. It is common for children with Down syndrome to need speech therapy to help with expressive language. Fine motor skills are delayed and often lag behind gross motor skills and can interfere with cognitive development. Occupational therapy can address these issues.

In education, mainstreaming of children with Down syndrome is controversial. Mainstreaming is when students of differing abilities are placed in classes with their chronological peers. Children with Down syndrome do not age emotionally/socially and intellectually at the same rates as children with out Down syndrome, so eventually the intellectual and emotional gap between children with as with out Down syndrome widens. Complex thinking as required in sciences but also in history, the arts, and the other subjects is often beyond their abilities, or achieved much later than in most children. Therefore, if they are to benefit from mainstreaming without feeling inferior most of the time, special adjustments must be made to the curriculum.

Some European countries such as Germany and Denmark advise two-teacher system, whereby the second teacher takes over a group of children with disabilities within the class. A popular alternative is cooperation between special education schools and mainstream schools. In cooperation, the core subjects are taught in separate a class, which neither slows down the typical students nor neglects the students with disabilities. Social activities, outgoings, and any sports and arts activities are performed together, as are all breaks and meals.

Health

The medical consequences of the extra material in DS are highly variable and may affect the function of any organ system or bodily process. The health aspects of Down syndrome encompass anticipating and preventing effects of the condition, recognizing complications of the disorder, managing individual symptoms, and assisting the individual and his/her family in coping and thriving with any retarded disability or illness

The most common manifestation of Down syndrome are the characteristics facial features, cognitive impairment, congenital heart disease, hearing deficits, short stature, thyroid disorders, and Alzheimer’s disease. Other less common serious illness includes leukemia, immune deficiencies, and epilepsy. Down syndrome can result from several different genetic mechanisms. This results in a wide variability in individual symptoms due to complex gene and environment interactions. Prior to birth, it is not possible to predict the symptoms that an individual with Down syndrome will develop. Some problems are present at birth, such as certain heart malformations. Others become apparent over time, such as epilepsy.

These factors contribute to a significantly shorter lifespan for people with Down syndrome. One study, carried out in United States, shows an average lifespan of 49 years.

Genetic research

 Down syndrome disorders are based on having too many copes of the genes located on chromosome 21. in general, this leads to an over-expression of the genes. Understanding the genes involved may help to target the medical treatment to individuals with Down syndrome. It is estimated that chromosome 21 contains 200 to 250 genes. Recent search has identified a region of the chromosome that contains the main genes responsible for the pathogenesis of Down syndrome, located proximal to 21q22.3. The search for major genes involved in Down syndrome characteristics is normally in the region 21q21-21q22.3

Recent use of transgenic mice to study specific genes in the Down syndrome critical region is had yielded some result. APP (Mendelian Inheritance in Man (OOIM) 104760, located at 21q21) is an Amyloid beta A4 precursor protein.

It is suspected to have a major role in cognitive difficulties. Another gene, ETS2 (Mendelian Inheritance in Man (OMIM 164740, located at 21q22.3) is Avian

Erythroblastsis Virus E26 Oncogene Homolog 2. Researchers have “demonstrated that over-expression of ETS2 result in apoptosis. Transgenic mice over-expressing ETS2 developed a smaller thymus and lymphocyte abnormalities, similar to features observed in Down syndrome.

Sociological and Cultural aspects

Advocates for people with Down syndrome points to various factors, such as special education and parental supports groups which make life easier for parents.

There are also great strides being made in education, housing, and social setting to create “Down-friendly” environments. In most developed countries, since the early 20^th century many people with Down syndrome were housed in institutions or colonies and excluded from society. However, in the 21^st century there is a change among parents, educators and other professionals generally advocating a policy of inclusion, bringing people with any form of mental or physical disability into general society as much as possible. In many countries people with Down syndrome are educated in the normal school system and there are increasingly higher quality opportunities to mix special education with regular education settings.

Despite this change, reduced abilities of people with Down syndrome pose a challenge to their parents and families. While living with their parents is preferable to institutionalization for most people wit Down syndrome, they often encounter patronizing attitudes and discrimination in the wider community. In the past decade, many couples with Down syndrome have married and started homes of their own, overcoming many of the stereotypes associated with this condition.

The first World Down Syndrome Day was held on 21 March 2006. The day and month were chosen to correspond with 21 and trisomy respectively. It was proclaimed by Down syndrome International.