Autism
Autism refers to a spectrum of disorders, and lies somewhere under the umbrella of a greater encompassing spectrum, that of pervasive developmental disorders that involve the functioning of the brain. Autism as a term is most commonly used to refer to classical autism, towards which the texts of this page are biased. Autism once was believed to be a psychiatric disorder but is now known to be neurological, even though many of its characteristic traits appear psychological.
Typical characteristics include problems with social relationships and emotional communication, in addition to patterns of behaviour and interests that are less common in neurotypicals, and also involves a nontypical approach to sensory integration.
Typically, autism spectrum disorders appear during the first three years of life. It is estimated that it occurs in approximately 2 to 6 in 1,000 individuals, and is 4 times more prevalent in males than females (source: The Autism Society of America [1]. It is most prevalent in Caucasian males, although it occurs in every race.
As of 2004, autism is believed by some to be treatable, though no cure exists and some controversy surrounds both its categorization as an ailment and these treatments, such as is spoken about in controversies in autism. Early diagnosis and intervention are held by most professionals to be vital to the future development of the child, and though there are instances where intervention seems negative this is mostly true.
While treatments for autism do exist, however controversially, it is widely considered that cure is impossible, because autism involves aspects of brain structure that are determined very early in development. However, there are persistent claims that some individuals after diagnosis have been helped to recover, or at least to mimic "normal" (neurotypical) behavior. (See references to Karyn Seroussi, and Cheri Florance).
There is quite a bit of controversy surrounding treatments for autism spectrum disorders and their classification as negative ailments. It is therefore recommended that interested parties read the controversies in autism page.
History
Not until the middle of the twentieth century was there a name for a condition that now appears to affect an estimated one in every five hundred children, causing disruption in families and unfulfilled lives for many children.
In 1943 Dr. Leo Kanner of the Johns Hopkins Hospital studied a group of 11 children and introduced the label early infantile autism into the English language. At the same time a German scientist, Dr. Hans Asperger, described a different form of autism that became known as Asperger's syndrome.
Thus these two disorders were described and are today listed in the Diagnostic and Statistical Manual of Mental Disorders DSM-IV-TR (fourth edition, text revision 1) as two of the five pervasive developmental disorders (PDD), more often referred to today as autism spectrum disorders (ASD). All these disorders are characterized by varying degrees of difference in communication skills, social interactions, and restricted, repetitive and stereotyped patterns of behavior.
Probable causes and origins of autism
A genome screen of autism. Most chromosomes seem related to autism, in particular chromosomes 2, 7 and 15.The causes and origins of autism and asperger's syndrome is a source of continuing conjecture and debate. Amongst several competing theories are the underconnectivity theory developed by cognitive scientists at Carnegie Mellon University and the University of Pittsburgh, the Neanderthal theory, the extreme male brain theory by Simon Baron Cohen, the lack of theory of mind, and the Preoperational-autism theory, which states that autistic people are those who get neurologically stuck at the pre-operational stage of cognitive development, where much of information processing is at a wholistic-visual level and largely non verbal and musical. This also addresses the issue of the theory of mind where children at the pre-operational stage of cognitive development have not attained decentralisation from egocentrism.
The Monotropism hypothesis argues that the central feature of Autism is attention-tunnelling, monotropism. The hypothesis is founded on the model Mind as a Dynamical System: Implications for Autism (http://www.autismandcomputing.org.uk/mind.htm). In this model of mind, the fundamental and limited resource is mental attention. Mental events compete for and consume attention. In a polytropic mind, many interests are aroused to a moderate degree. In a monotropic mind, few interests are very highly aroused. When many interests are aroused, multiple, complex, behaviours emerge. When few interests are aroused then a few, intensely motivated, behaviours are engendered. From monotropism hypothesis, autism results from different strategies of distributing attention in the brain.
The underconnectivity theory indicates a deficiency in the coordination among brain areas. Since the brain is known to be modular. With the aid of (fMRI), it was seen that white matter which connects various areas of the brain like cables, have abnormalities in people with autism.
The underconnectivity theory holds that autism is a system-wide brain disorder that limits the coordination and integration among brain areas. This theory is parsimonious, in that it explains why autistic people are matured on certain dimensions eg: visual information processing and logical analysis, and yet are socially and sometimes neuro-physiologically, significantly younger to their chronological age. The underconnectivity theory can be regarded as monotropism in the brain.
Other probable theories, addresses the rise of autism in recent times. They suggests the rise of visual media and thereby the increasing central role of visual information processing in the breakdown of language and the rise of autism.
Symptoms
Possible Indicators of Autism Spectrum Disorders:
Does not babble, point, or make meaningful gestures by 1 year of age
Does not speak one word by 16 months
Does not combine two words by 2 years
Does not respond to name
Loses language or social skills
Some Other Indicators
Lacks eye contact
Doesn't seem to know how to play with toys in the usual manner
Excessively lines up toys or other objects
Is attached to one particular toy or object
Doesn't smile (socially, but may smile during periods of self-stimulatory behavior)
At times seems to be hearing impaired
Social symptoms
From the start, typically developing infants are social beings. Early in life, they gaze at people, turn toward voices, grasp a finger, and even smile.
In contrast, most autistic children prefer objects to faces and seem to have tremendous difficulty learning to engage in the give-and-take of everyday human interaction. Even in the first few months of life, many do not interact and will avoid eye contact, seeming indifferent to other people.
Autistic children often appear to prefer being alone rather than in the company of others, may resist attention or passively accept such things as hugs and cuddling without caring. Later, they seldom seek comfort or respond to parents' displays of anger or affection in a typical way. Research has suggested that although autistic children are attached to their parents, their expression of this attachment is unusual and difficult to "read." To parents, it may seem as if their child is not attached at all. Parents who looked forward to the joys of cuddling, teaching, and playing with their child may feel crushed by this lack of the expected and typical attachment behavior.
Children on the autism spectrum also are slower in learning to interpret what others are thinking and feeling. Subtle social cues � whether a smile, a wink, or a grimace � may have little meaning. To a child who misses these cues, "Come here" always means the same thing, whether the speaker is smiling and extending her arms for a hug or frowning and planting her fists on her hips. Without the ability to interpret gestures and facial expressions, the social world may seem bewildering. To compound the problem, people on the autism spectrum have difficulty seeing things from another person's perspective. Neurotypical (popularly described as "normal") 5-year-olds understand that other people have different information, feelings, and goals than they have. An autistic person may lack such understanding, an inability that leaves them unable to predict or understand other people's actions.
Although not universal, it is common for autistic people also to have difficulty regulating their emotions. This can take the form of "immature" behavior such as crying in class or verbal outbursts that seem inappropriate to those around them. The autistic individual might also be disruptive and physically aggressive at times, making social relationships still more difficult. They have a tendency to "lose control," particularly when they're in a strange or overwhelming environment, or when angry and frustrated. They may at times break things, attack others, or hurt themselves. In their frustration, some bang their heads, pull their hair, or bite their arms.
Communication difficulties
By age 3, neurotypical children have passed predictable milestones on the path to learning language; one of the earliest is babbling. By the first birthday, a typical toddler says words, turns when he hears his name, points when he wants a toy, and when offered something distasteful, makes it clear that the answer is "no."
Speech development in Autism takes a different path developmentally than in neurotypical children. Some autistics remain mute throughout their lives, while being fully literate and able to communicate in other ways -- images, sign language, and typing are far more natural to them. Some infants who later show signs of autism coo and babble during the first few months of life, but they soon stop. Others may be delayed, developing language as late as the teen years. Still, inability to speak no more means that autistics are unintelligent or unaware than it does in a neurotypical with his or her mouth taped shut. Once given appropriate accommodations, many will happily "talk" for hours, and can often be found in spectrum chat rooms, discussion boards, websites, or even using communication devices at the annual Autreat.
Those who do speak often use language in unusual ways, retaining features of earlier stages of language development for long periods or throughout their lives. Some speak only single words, while others repeat the same phrase over and over; or repeat what they hear, a condition called echolalia. Sing-song repetitions in particular are a calming, joyous activity that many autistic adults engage in. Many autistics have a strong tonal sense, and can often understand spoken language better if it is sung to them.
Some children may exhibit slight delays in language, or even seem to have precocious language and unusually large vocabularies, but have great difficulty in sustaining a conversation neurotypical-style. The "give and take" of NT conversation is hard for them, although they often carry on a monologue on a favorite subject, giving no one else an opportunity to comment. When given the chance to interact with other autistics, they comfortably do so in "parallel monologue" -- taking turns expressing views and information. Just as neurotypicals are not designed to understand autistic body languages, vocal tones, or phraseology, autistics similarly have trouble with such things in neurotypicals. In particular, autistic language abilities tend to be highly literal; neurotypicals often inappropriately attribute hidden "meaning" to what autistics say or expect the autistic to sense such unstated meaning in their own words.
The body language of autistics is uniquely designed for other autistics, and therefore can be difficult for neurotypicals to understand. Facial expressions, movements, and gestures are appropriate for and easily understood by other autistics, but do not match those used by neurotypicals. Also, their tone of voice has a much more subtle inflection in reflecting their feelings, and the neurotypical auditory system often cannot sense the fluctuations. What seems to NTs like a high-pitched, sing-song, or flat, robot-like voice is common. Some children with relatively good language skills speak like little adults, rather than falling into the immature "kid-speak" that is common in their neurotypical peers.
With neurotypicals often refusing to learn the autistic body language, and with autistic natural language not tending towards speech, autistic people often are forced to struggle to let others know what they need. As a result, as anybody would do in such a situation, they may scream in frustration or resort to grabbing what they want. While waiting for neurotypicals to learn to communicate with them, autistics do whatever they can to get through to them. As autistic people grow up, the accumulation of mistreatment, constant rejection from neurotypicals assuming that differences are something to "cure", and constantly being misunderstood by neurotypicals refusing to help bridge the neurological gap logically causes them to become anxious or depressed.
Repetitive behaviors
Although autistics usually appear physically normal and have good muscle control, unusual repetitive motions may set them apart. These behaviors might be extreme and highly apparent or more subtle. Some children and older individuals spend a lot of time repeatedly flapping their arms or walking on their toes, others suddenly freeze in position.
As children, they might spend hours lining up their cars and trains in a certain way, rather than using them for pretend play. If someone accidentally moves one of these toys, the child may be tremendously upset. Autistic children often need, and demand, absolute consistency in their environment. A slight change in any routine�in mealtimes, dressing, taking a bath, going to school at a certain time and by the same route�can be extremely disturbing. Perhaps order and consistency lend some stability in a world of confusion.
Repetitive behavior sometimes takes the form of a persistent, intense preoccupation. For example, the child might be obsessed with learning all about vacuum cleaners, train schedules, or lighthouses. Often they show great interest in numbers, symbols, or science topics.
Severity of symptoms
Autism presents in a wide degree, from those who are nearly dysfunctional and apparently mentally retarded to those whose symptoms are mild or remedied enough to appear unexceptional (normal) to the general public. These autistic persons are often classified as 'nerds' by their peers.
"Low-" and "High-functioning"
In terms of both classification and therapy, autistic individuals are often divided into those with an IQ<80 referred to as having "low-functioning autism" (LFA), while those with IQ>80 are referred to as having "high functioning autism" (HFA). Low and high functioning are more generally applied to how well an individual can accomplish activities of daily living, rather than to IQ. The terms low- and high-functioning are controversial and not all autistics accept these labels.
This discrepancy can lead to confusion among service providers who equate IQ with functioning and may refuse to serve high-IQ autistic people who are severely compromised in their ability to perform daily living tasks, or may fail to recognize the intellectual potential of many autistic people who are considered LFA. For example, some professionals refuse to recognize autistics who can speak or write as being autistic at all, because they still think of autism as a communication disorder.
Asperger's and Kanner's syndrome
Of the most common presentations of autism, Kanner's syndrome is often described as classical autism, implying low-functioning, while Asperger's syndrome is described as a high-functioning form of autism, but this is not necessarily the case.
In the current Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR) the most significant difference between Autistic Disorder (Kanner's) and Asperger's disorder is that a diagnosis of the former includes the observation of "[d]elays or abnormal functioning in at least one of the following areas, with onset prior to age 3 years: (1) social interaction, (2) language as used in social communication, or (3) symbolic or imaginative play[,]" [2](http://www.behavenet.com/capsules/disorders/autistic.htm) while in these areas a diagnosis of Asperger's observes "no clinically significant delay."
The DSM makes no mention of level of intellectual functioning, but the fact that Asperger's autistics as a group tend to perform better than those with Kanner's autism has fed the popular conception that Asperger's Syndrome is synonymous with 'Higher Functioning Autism', or that it is a lesser disorder than autism. There is also a popular but not necessarily true conception that all autistic individuals with a high level of intellectual functioning have Asperger's autism; or that both types are merely geeks with a medical label attached.
Autism has evolved in the public understanding, but the popular identification of autism with relatively severe cases as accurately presented in Rain Man is an encouragement for relatives of family members diagnosed in the autistic spectrum to speak of their loved ones as having Asperger's syndrome rather than autism.
Autism as a spectrum disorder
Another view of these disorders is that they are on a continuum, so can be known as autistic spectrum disorders. Another related continuum is Sensory Integration Dysfunction which is about how well we integrate the information we receive from our senses. Autism, Asperger's Syndrome, and Sensory Integration Dysfunction are all closely related and overlap.
Some high-achieving individuals are thought to have had some form of autism. However, this may be favoured diagnosis due to the high current visibility of autism in the popular press. In the 1980s, such individuals were often characterised as dyslexic or dysmetric; other popular diagnoses for famous achievers have included bipolar disorder (manic depression), schizophrenia or in one lamentable case, Tourette syndrome, (Mozart was supposed to have it because of his reported fondness for scatological humor). However, it is true that autistic people may have other learning disabilities such as dyslexia.
There are two main manifestations of classical autism, regressive autism and early infantile autism. Early infantile autism is present at birth while regressive autism begins at approximately 18 months. There are also cases of children developing abnormally from birth but regressing around the age of 18 months, causing some degree of controversy as to when the neurological difference involved in autism truly began.
Rare autism spectrum disorders
Rett Syndrome
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.
Childhood Disintegrative Disorder
Very few children who have an autism spectrum disorder (ASD) diagnosis meet the criteria for childhood disintegrative disorder (CDD). An estimate based on four surveys of ASD found fewer than two children per 100,000 with ASD could be classified as having CDD. This suggests that CDD is a very rare form of ASD. It has a strong male preponderance.** Symptoms may appear by age 2, but the average age of onset is between 3 and 4 years. Until this time, the child has age-appropriate skills in communication and social relationships. The long period of normal development before regression helps differentiate CDD from Rett syndrome.
*Rett syndrome. NIH Publication No. 01-4960. Rockville, MD: National Institute of Child Health and Human Development, 2001.
**Frombonne E. Prevalence of childhood disintegrative disorder. Autism, 2002; 6(2): 149-157.
***Volkmar RM and Rutter M. Childhood disintegrative disorder: Results of the DSM-IV autism field trial. Journal of the American Academy of Child and Adolescent Psychiatry, 1995; 34: 1092-1095.
Increase in diagnoses of autism
There has been an explosion worldwide in reported cases of autism over the last ten years. There has been considerable speculation as to why this might be, with no conclusive proof emerging around any theory. However, studies have ruled out the speculation that the rise is [entirely] attributable to an improvement in diagnostic methods.
In the last decade, the population of the United States has increased by 13%. There has been an increase in non-autism-related disabilities of 16%. The increase in autism is 173%.
In 2001, Wired Magazine published an interesting speculative article The Geek Syndrome (http://www.wired.com/wired/archive/9.12/aspergers_pr.html) exploring the surge in apparent autism in Silicon Valley. This is only one example of the media's application of mental disease labels to what is actually variant normal behavior. Shyness, lack of athletic ability or social skills, and intellectual interests, even when they seem unusual to others, are not in themselves signs of autism or Asperger's syndrome.
Remediation of autistic behaviors
Remediation of debilitating aspects of autism was long hindered not only by widespread disagreement over its nature and causes, but by lack of a recognized and effective course of therapy.
Dr. Bruno Bettelheim believed that autism was linked to trauma in early childhood, and his work was highly influential for decades. Parents, and especially mothers, of autistics were blamed for having caused their child's condition through the withholding of affection. Leo Kanner, who first described autism (Autistic disturbances of affective contact, 1943) originated the concept of "refrigerator mothers" in regard to autism, although he eventually renounced the concept and apologized publicly. Bettelheim took the theory further. These theories did nothing to address the fact that having more than one autistic child in a family is exceptional, not the rule. Treatments based on these theories failed to help autistic children.
A major breakthrough in the remediation of autistic behaviors came through work spearheaded by Ole Ivar Lovaas, who believed that success could be obtained by behavioral approaches.
Lovaas' approaches�often referred to as Discrete Trial, Intensive Behavior Intervention, and Applied Behavior Analysis�are some of the best known and most widely used in the field and focus on the development of attention, imitation, receptive or expressive language, and pre-academic and self-help skills. Using a one-to-one therapist-child ratio and the �antecedent-behavior-consequence� (ABC) model, interventions based on this work involve trials or tasks. Each consists of (a) an antecedent, which is a directive or request for the child to perform an action; (b) a behavior, or response from the child, which may be categorized as successful performance, noncompliance, or no response; and (c) a consequence, defined as the reaction from the therapist, which ranges from strong positive reinforcement to a strong negative response, �No!�(Autism Society of America, 2001).[5] (http://www.aann.org/ce/jnn04-02b.htm)
Lovaas' Applied Behavioral Analysis (ABA) methods were the first scientifically validated therapy for autism. Early intervention, generally before school-age, is critical for children who would benefit from these programs.
The scientific validity of Lovaas's methods is questioned by many professionals as well as parents and autistics themselves, however, who point out that true ABA is based around the use of aversives which could be experienced by an autistic person as confusing and painful. Nevertheless, some believe that ethical reasons exist for applying Lovaas's techniques. Some behaviorist programs for autistics employ no aversives at all and do not attempt to "extinguish" behaviors such as rocking or spinning which autistics use for calming purposes.
ABA may not be appropriate for every autistic or developmentally delayed child. ABA has come into widespread use only in the last decade and the demand is outstripping the supply of committed and experienced service providers. As a result, parents of children need to be extra vigilant in choosing appropriate treatments for their children and especially in choosing providers, who may be inexperienced, use questionable methods or even deceive parents that they are competent to run an ABA or any other program. Such problems have led to horror stories from some parents.
Autism and Computing
Computers can be an ideal environment for promoting communication, sociabilility, creativity, and playfulness for individuals even at the extreme of the autistic spectrum. This is the opinion of the non-profit group Autism and Computing. They argue that the central feature of Autism is attention-tunnelling, monotropism. Computers would afford an easy way of joining attention tunnels with minimal mutual discomfort, so circumventing some of the most disabling features of autistic spectrum disorders. The potential for computers in Autism would not just be educational but therapeutic. The group presents both theory and practise on its website Autism and Computing.
Aspects of autism
Some things to mention here:
the autistic savant phenomenon occasionally seen in people with autism. Calendar calculators and fast programming skills are the most common form.
Simon Baron-Cohen's team at the Autism Research Centre in Cambridge, UK, measured testosterone levels in the amniotic fluid of mothers while pregnant. This is presumed to reflect levels in the babies themselves. The team found that the babies with higher fetal testosterone levels had a smaller vocabulary and made eye contact less often when they were a year old.
His group has looked at the original 58 children again, at age four. The researchers found that the children with higher testosterone in the womb are less developed socially, and the interests of boys are more restricted than girls. The results will be published in the Journal of Child Psychology and Psychiatry (2004).
Baron-Cohen theorizes that high fetal testosterone levels push brain development towards an improved ability to see patterns and analyse systems. Males supposedly tend to be better at these tasks than females. But the high levels are thought to inhibit the development of communication and empathy, which are allegedly typical female skills.(New Scientist, 24 May 2003). There is still no demonstrable evidence that testosterone levels affect brain development at all, let alone autism. Gender or bio-determinism is a fashionable explanation for many human behaviours, but has been challenged by other professionals.
Research by Andrew Wakefield in the UK, published in The Lancet in February 1998 suggested a possible link between autism and the MMR vaccine. This was very controversial. Subsequent studies failed to confirm the link, and some in fact showed a lack of such a link. The original research has come under criticism, largely due to a conflict of interest on Wakefield's part. In February 2004 The Lancet described the research as "entirely flawed" and said that it should never have been published. Controversy continues, with Wakefield defending his integrity.
Aspies with statistical skills have claimed that Andrew Wakefield was, and still is, severely incompetent in statistics and failed to recognize the extreme bias of his sample among other obvious flaws. Wakefield's nonscientific study and its continuing circulation in autism societies is sometimes depicted by the media as a "proof" no autism-vaccine connection exists and "it's all hype".
Research in the US suggesting a similar link between autism and DPT vaccine. It isn't however the large majority of autism that would come from vaccines, unlike early claims from Wakefield.
Susan Bryson has proven autistics have a much smaller brain stem in 99% of autism cases; and that a small portion of the Thalidomide victims have become autistic. Limbs were normal unless Thalidomide use continued later in the pregnancy. The brain stem anomaly's most striking feature is inability to focus attention away from a stimulus in a short time like neurotypicals, as demonstrated in a psychological test.
Neurology-skilled Aspies claim the inability to shift attention away in a very short time (i.e. overfocus) interferes with the ability to read nonverbal language where fast attention shifts are needed like eye language; suggesting that being nonverbal is not a primary feature of autism. Strong and shiftless focus is however a quality in some areas like science, programming, and advanced mathematics. This is supported by the monotropism hypothesis.
the analysis of autism as "mind blindness"�the inability to create models of other people's thoughts. The typical example of this is "where does X look for the object they stored, but which was moved by Y"�see theory of mind. Not all autistics fit this pattern, and more study is clearly needed.
Dr. Bernard Rimland's influential research and his book Infantile Autism (1967) which argued that autism was not caused by childhood trauma or abuse, but by damage to certain areas of the brain, particularly the reticular formation which associates present sensory input with memories of past experiences. Dr. Rimland is a foremost advocate of the theory that autism may be precipitated by mercury/heavy metal toxicity.[8] (http://www.curezone.com/art/read.asp?ID=79&db=2&C0=735) He also is prominent in increasingly common claims of successful treatment of autism in children -- particularly regarding improvements in ability to comprehend the spoken word -- with the gluten-free, casein-free diet & mercury chelation therapy.
Neurobiology-skilled aspies have often claimed Dr. Bernard Rimland's methods cure heavy metal poisoning, but not autism. Curing heavy metal poisoning when it is present is a worthy goal (it helps with IQ and other learning difficulties as well as general health), but claiming a cure for autism is a misrepresentation. Heavy metal poisoning may be more common among autistics due to a severe Metallothionein deficiency; but heavy metals don't cause autism. They might make you more likely to get an autism diagnosis, though.
Dr. Karl Ludwig Reichelt claims to have found peptides from casein and gluten which worsen the symptoms of autistic children. The peptides are casomorphines and gluten exorphines which influence the brain. Significant improvement is seen when they are on a strict diet.
Relationship Development Intervention (RDI) is a proprietary treatment program targeting the core social/relationship deficits of autism.
The social alienation of people with autism and Asperger's Syndrome is so intense from childhood that many of them have imaginary friends as companionship.
Both Oliver Sacks and Torey Hayden have written about their autistic patients or pupils, respectively. Temple Grandin has also written about her own life as a person with autism. Donna Williams in her books, including (Autism: an inside-out approach, ISBN 1-85302-387-6) gave an interesting perspective on the experience of a person with autism and the degree to which recovery is possible. Many other people who have autism have written books on the condition (and on other topics).
The Options (http://www.son-rise.org/) program. In the early 1970s, advertising executive Barry Kaufman published a book, Son Rise (http://www.amazon.com/exec/obidos/tg/detail/-/0446306452/002-1203884-8278414?v=glance), about his son Raun Kahlil's "triumph over autism". Raun apparently had regressive autism subsequent to a series of life-threatening ear infections. (He was never actually diagnosed, and may only have been speech-delayed with a few autistic traits.) As he describes in his polemic, Kaufman and his family "chose to feel happy" about Raun's condition. They tried to communicate with Raun not by overt attempts to force neurotypical behavior, but by imitating his endless rocking, plate spinning and other rituals, while gently introducing eye contact, speech, song, etc. for him to imitate if he would. Supposedly, Raun snapped out of it and began behaving as a completely neurotypical child. The book was embraced by thousands of parents in desperate hope. Raun's story seemed to prove the myth of the "real child" trapped in a shell of autism, and many others would still choose to uphold this myth.
Kaufman's ideas led to the creation in 1983 of the Options Institute, in which children with all sorts of autistic-spectrum conditions receive the same sort of interactive training in hopes that they will "choose" not to be autistic. The program emphasizes loving and accepting the child just as he is, but the attitude exemplified by the language used -- "rescuing" the child from autism, "rebirthing" him from a "living death", and so on -- would seem to belie this. In the program's view, a positive attitude is mandatory -- the institute's motto is "Happiness is a Choice" -- and a child's failure to respond is blamed on parents' "negative attitude" rather than any defect in the program itself. In more recent years, the program has expanded to include children diagnosed with ADHD and group therapies for adults. Some ex-members describe Options as cultlike (http://www.freedomofmind.com/resourcecenter/groups/o/option/oi_statements.htm), while some autistic individuals feel that Options is not geared for all autistic persons and that its goals are unrealistic (http://rsaffran.tripod.com/sonrise.html). In any case, "choosing" not to be autistic certainly won't magically make appear the two missing brain structures shown to be missing or altered in autism [9] (http://www.unc.edu/~cory/autism-info/orgautsa.html) or make autistics think about people in the same area of the brain that normal people use. Those features will continue to make the autistic internally different, and inherently uncomfortable with some aspects of neurotypical behavior, regardless of how he is fully trained/self-trained at pretending to be normal.
Adults with an autism spectrum disorder
Some autistic adults, especially those with high-functioning autism or with Asperger syndrome, are able to work successfully in mainstream jobs. Nevertheless, communication and social problems often cause difficulties in many areas of life.
Many other autistics are capable of employment in sheltered workshops under the supervision of managers trained in working with persons with disabilities. A nurturing environment at home, at school, and later in job training and at work, helps autistic people continue to learn and to develop throughout their lives.
In the United States, the public schools' responsibility for providing services ends when the autistic person is in their 20s, depending of each state. The family is then faced with the challenge of finding living arrangements and employment to match the particular needs of their adult child, as well as the programs and facilities that can provide support services to achieve these goals.
Homocystinuria
Homocystinuria, also known as Cystathionine beta synthase deficiency, is inherited disorder of the metabolism of the amino acid methionine. It is inherited an autosomal recessive trait, which means the child is to inherit the defective gene from both parents. This defect leads to a multisystemic disorder of the connective tissue, muscles, CNS, and cardiovascular system.
Homocystinuria represents a group of hereditary metabolic disorders characterized by an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. Infants appear to be normals and early symptoms, if any are present, are vague.
Symptoms
A family history of homocystinuria
Nearsightedness
Flush across the cheeks
Tall, thin build
Long limbs
High-arched feet (pes cavus)
Knock-knees (genu valgum)
Pectus excavatum
Pectus carinatum
Mental retardation
Psychiatric disease
Mortality/morbidity
The life expectancy of patients with homocystinuria is reduced. It is known that before the age of 30, almost one fourth of patients die as a result of thrombotic complications(e.g. heart attack).
Treatment
No specific cure has been discovered for homocystinuria. However, many people are treated to high doses of vitamin B6(also known as pyridoxine). Slightly less than 50% respond to this treatment and are needed to intake supplemental vitamin B6 for the rest of their lives. Those that do not respond require a low methionine diet, and most will need treatment with trimethylglycine. A normal dose of folic acid supplement and occasionally added cysteinein the diet is helpful.
Recommended diet
Low-protein food is recommended for these disorder requires food products which are low in particular types of amino-acid (i.e. methonine)
Tuesday, March 16, 2010
Labels: Autism
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