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.