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General Autism Information

The information in this entire sticky is taken from my Developmental Psychopathology psychology class in college, unless specified otherwise (such as links, etc). All credit for this information goes to Eric J. Mash and David A. Wolfe, who wrote the textbook. Copyright 2005 Wadsworth, a division of Thomas Learning, Inc.


Autism
Autistic disorder, or autism, is a severe developmental disorder characterized by abnormalities in social functioning, language and communication, and unusual behaviors in interests. It touches every aspect of the child's interaction with his or her world, involves many parts of the brain, and undermines the traits that make us human - our social responsiveness, ability to communicate, and feeling for other people.


Description and History
Imagine yourself the parent of an infant who won't cuddle, look into your eyes, or respond to your affection or touching. Unlike other children, your child doesn't seem to form a loving relationship with you as you interact with him. In fact, he seems incapable of forming a normal relationship or communicating with anyone. As he grows older, he rarely speaks. When he does speak, he talks in unusual ways, for example, by parroting what you say to him or blurting out seemingly meaningless phrases, such as "dinosaurs don't cry." Your child doesn't use facial expressions or gestures to communicate his needs or to tell you how he feels - no smiles, no nods, no head shakes, no holding up toys for you to look at. Nor does he seem to understand the smiling faces that you and others make as you try to engage him socially. Your child shows little interest in sharing pride or pleasure with you or anyone else. Over the first few years of his life, he becomes more and more isolated, caught up in his own little world of rituals and interests, which when interrupted, cause him to become extremely upset. Something is seriously wrong.

Autism is one of several pervasive developmental disorders (PDDs), also called autistic spectrum disorders (ASDs), all characterized by significant impairments in social and communication skills, and stereotyped patterns of interests and behaviors (Volkmar, Lord, Bailey, Schultz & Klin, 2004). As we shall see, children with PDDs vary significantly in this form, pervasiveness, and severity of their symptoms and abilities.

Ancient myths suggest that children with autism have been around for centuries. For example, stories of elfin children, left in the place of real human babies who were stolen away by the "little people", describe these "changlings" as strange and remote, much like a child with autism (Wing & Potter, 2002). The factual history of autism begins in 1943, when psychiatrist Leo Kanner described 11 children who, in the first few years of life, withdrew into shells, disregarded people for objects, avoided eye contact, lacked social awareness, had limited to no language, and displayed stereotypical motor activities. The also exhibited the preservation of sameness, which is an anxious and obsessive insistence on the maitenance and sameness in daily routines and activities, which no one but the child may disrupt. Their parents described them as "like in a shell," "acting as if people weren't there," and "oblivious to everything around him" (Kanner, 1943, p.242).

Kanner (1943, 1944) called this disorder "early infantile autism" (autism literally means "within oneself"). He viewed the core feature of autism as the children's "inability to relate themselves in the ordinary way to people and situations from the beginning of life" (1943, p.242). There is, said Kanner, "an extreme autistic aloneness that, whenever possible, disregards, ignores, shuts out anything that comes to the child from outside" (p.242). The early onset of this disorder led Kanner to conclude that autism resulted from the inborn inability to form loving relationships with other people.

Kanner described the parents of the children he observed as highly intelligent and obsessive people who were cold, mechanical and detached in their relationships - called the "refrigerator parent.' Although he clearly saw autism as an inborn deficit, he also planted the seeds for the psychoanalytic view that the "precipitating factor in infantile autism is the parent's wish that his child should not exist" (Bettelheim, 1967, p. 125). However, this early view that autism resulted from a child's defensive withdrawl from an intellectual, cold-hearted and hostile parent has found no support (Rutter, 1999). Children with autism have not withdrawn from reality because of a mental disorder - rather, they have failed to enter reality because of widespread and serious disturbaneces in their development (Rutter, 1991a). Or, as Clara Clark, mother of a child with autism, put it, "Youcan't say autistic children are withdrawn, because they were never there to begin with" (adler, 1994, p. 24 cool . Autism is now recognized as a biologically based lifelong developmental disability that is present in the first few years of life (Rutter, 2000a).

Children with autism behave in unusual and frequently puzzling ways. They may squeal with excitement at the sight or sound of a wheel spinning on a toy car, yet ignore or have a full-blown tantrum if someone attempts to play with them. As times they may look through you as if you are a pane of glass, but other times stare directly at your face or tug on your arm to lead you to something they want. When you speak to a child with autism, she may act as if she is deaf, but then quickly turn in the direction of the faint crackling sound of a candy wrapper in another room.

Many children with autism display extreme fear or avoidance of noisy or moving objects, such as running water, swings, elevators, battery-operatred toys, or even the wind. One boy was so afraid of a vacuum cleaner that he would not go anywhere near the closet where it was kept. When someone used it in the house, he ran to the garage and covered his ears with his hands. Yet the same child was oblivious to the sounds of traffic roaring by him on a dangerous freeway. Although children with autism fear many things, they are also attracted to and preoccupied with other objects and activities - for example, a rotating fan, a flickering light, or in Jay's case, TV newscasters. These children often develop unusual attachments or reactions to odd objets, such as a rubber band, a piece of sandpaper or string, or, like Jay, apostrophes.

(Mod Note: Jay is a reference to a case study in the textbook I'm not including. He's an 8 year old boy with autism.)

Children with autism may scream, kick, and lash out at others if a chair is moved from its usual location in their room, or, like Jay, if something other than a favourite musical selection is playing on the CD player. They may spend hour after hour playing in a corner of their room, engaging in stereotyped or repetitive motor activities, such as rocking, lining up objects, or repeatedly flapping their hands and fingers as they flip through the pages of a magazine. Rather than seeing the big picture, children with autism are much more likely to fixate on a miniscule object or even in their world, such as a tiny spot on their shirt. Whereas most of us see the hugeness of the trees in the forest, a child with autism is more likely to fixate on one pine needle.


DSM-IV-TR: Defining Feature [Of Autism]

The DSM-IV-TR criteria for autistic disorder are presented in Table 10.1 (see below). In addition to the core symptoms of the disorder, the child must also show delays or abnormal functioning in social interaction, language used for social communication, or symbolic or imaginative play with onset prior to age 3 years.

Main Features of DSM-IV-TR Diagnostic Criteria for Autistic Disorder
A total of six (or more) items from (1), (2), and (3) with at least two from (1), and one each from (2) and (3).

(1) Qualitive impairment in social interaction, as manifested by at least two of the following:
(a) Marked impairment in the use of multiple verbal behaviors such as eye-to-eye gaze, facial expressions, body postures, and gestures to regulate social interaction.

(b) Failure to develop peer relationships appropriate to developmental level.

(c) A lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (eg - by a lack of showing, bringing, or pointing out objects of interest).

(d) Lack of social or emotional reciprocity.

(2) Qualitive impairments in communication as manifested by at least one of the following:

(a) Delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication, such as gesture or mime).

(b) In individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others.

(c) Stereotyped and repetitive use use of language or idiosyncratic language.

(d) Lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level.

(3) Restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following:

(a) Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus.

(b) Apparently inflexible adherence to specific, nonfunctional routines or rituals.

(c) Stereotyped and repetitive motor mannerisms (eg - hand or finger flapping or twisting, or complex whole-body movements).

(d) Persistent preoccupation with parts or objects.


Core Deficits of Autism
(Mod Note: Due to the large amount of information for this section, I'm just going to list the deficits.)

- Social impairments
- Communication impairments
- Repetitive behaviors and interests


Associated Characteristics of Autism
(Mod Note: Due to the large amount of information for this section, I'm just going to list the deficits.)

- Intellectual deficits and strengths
- Sensory and perceptual impairments
- Cognitive deficits
-- Deficits in processing social-emotional information
-- General deficits in information processing, planning, and attention
- Physical characteristics
- Accompanying disorders and symptoms
- Differential diagnosis


Causes of Autism
No single abnormality can likely account for all of the impairments associated with autism, or for the many forms of the disorder, ranging from mild to severe (Eigisti & Shapiro, 2003). Although the precise causes of autism are still not known, our understanding of possible mechanisms has increased dramatically (Gilberg, 1999; Nicolson & Szatmari, 2003). These advances are evident when we consider that, not long ago, autism was being attributed to cold and unloving parents.

It is now generally accepted that autism is a biologically based neurodevelopmental disorder with multiple causes (Dawson et al., 2002; Trottier, Srivastva, & Walker, 1999). This does not rule out environmental risk factors, especially physical events that might occur during pre-natal development (eg - anti-seizure medication taken during pregnancy, etc). Tu understand autism, we must consider problems in early development, genetic influences, and neuropsychological and neurobiological findings.

Problems in Early Development
Children with autism experience more health problems during pregnancy, at birth, or immediately following birth than other children (Rodier & Hyman, 199 cool . Premature birth, bleeding during pregnancy, toxemia (blood poisoning), viral infection or exposure, and a lack of vigor after birth have been identified in a small percentage of children with autism (Wilkerson, Volpe, Sean & Titus, 2002). Although these problems during pregnancy and birth are not the primary cause of autism, they do suggest that fetal or neonatal development has been somewhat compromised (Bolton et al., 1997; Piven et al., 1993).

A controversial proposal is that some cases of autism in children, who speak only a few words and have other social-communicative behaviors that disappear in the second year of life, may be linked to vaccinations. The most attention has been given to combination vaccines for measels, mumps, and rubella (MMR) (Kawakhima et al., 2000; A.J. Wakefield et al., 2000). However, current evidence does not support an association between MMR vaccines and autism (Wilson, Mills, Ross, McGowan, & Jadad, 2003).

Genetic Influences
The study of specific chromosomal anomalies and gene disorders, and findings from family and twin studies, indicate a substantial role for genetic factors in the etiology of autism (Folstei & Rosen-Sheidly, 2001; Rutter, 2000a).

Chromosomal and Gene Disorders
The discovery of the fragile X-anomaly in about 2% - 3% of children with autism led to increased attention to this and other chromosomal defects that might be related to autism (Turk & Graham, 1997). In general, individuals with autism have an elevated risk of about 5% for chromosomal anomalies (Barton & Volkmar, 1998; Dykens & Volkmar, 1997). However, these anomalies alone do not indicate the specific gene sites underlying the disorder, because autism has been associated with anomalies involving several chromosomes (Gillberg, 199 cool .

Autism is also associated with tuberous sclerosis, a rare single-gne disorder. The manifestations of this disorder can vary widely from mild to severe, and may include neural defecits, seizures, and learning disabilities. Most cases are derived from new mutations with no family history of the disorder (Bailey et al., 1996). About 25% or more of children with tuberous sclerosis also have autism. This makes the association between autism and tuberous sclerosis greater than that for any other genetically based condition. Although the underlying mechanisms are not known, autism could arise if the tuberous sclerosis gene mutations occur during critical stages of neural development in brain regions critical to the development of autism (Smalley, 199 cool .

Family and Twin Studies
Family studies incate that about 3% - 7% of siblings and extended family members of individuals with autism also have the disorder (Le Couteur et al., 1996). Thus, the likelihood that autism will occur twice in the same family is 50 to 100 times greater than would be expected by chance alone (Bolton et al., 1994). Twin studies have reported concordance rates for autism in identical twins ranging from 60% - 90%, in contrast to near zero rates for fraternal twins (Bailey et al., 1996). Taken together, family and twin studies suggest that the heritability of an underlying liability to autism is above 90% (Rutter, 2000a).

Family members of children with autism also display higher than normal rates of social and language defecits, and unusual personality features that are very similar to those found in autism, but less severe (Lainhart et al., 2002; Lotspeich, Dimceli, Myers & Risch, 2002). Referred to as the broader autism phenotype, these defecits include social oddities such as aloofness, lack of tact, an rigidity; pragmatic language problems such as over- or uncommunicativeness; and poor verbal comprehension. Family members with the broader phenotype, however, do not display the atypical behavior (eg - echolalia), extreme stereotyped repetitive behavior, or mental retardation and epilepsy associated with a formal diagnosis of autism (Rutter, 2000a). These findings are consistent with a general family risk for autism that is genetically medicated (Piven, 1999).

Molecular Genetics
Exciting new research has pointed to particular areas on many different chromosomes, especially chromosomes 2, 7, 13, and 15, as possible locations for susceptibility genes for autism (Barnby & Manaco, 2003; Yonan et al., 2003). However, actual susceptibility genes have not yet been identified (International Molecular Genetic Study of Autism Consortium, 199 cool . Susceptibility genes are casually implied in the liability to autism, but do not cause it directly on their own. The identification of specific genes in autism may greatly enhance our understanding of this disorder and its specific components (Stodgell, Ingram & Hyman, 2000). However, initial steps in identifying a gene for autism address only a small part of the genetic risk for autism. Similar searches will be needed to identify other genes, and multiple interacting genes are a far more probable cause than a single gene (Rutter, 2000a).

Brain Abnormalities
Although there is no known biological marker for autism, impressive advances have been made in documenting the biological basis of the disorder (Volkmar et al., 2004). Elevated rates of epilepsy and the occurance of EEG abnormalities in about one-half of all individuals with autism provide general evidence of abnormal brain functioning. In addition, several brain abnormalities have been identified that are generally consistent with an early disturbance in neural development prior to 30 weeks before birth (Gillberg, 1999; Minshew, Johnson & Luna, 2000).

Neuropsychological impairment in autism occur in many domains, including verbal intelligence, orienting and slective attention, memory, pragmatic language, and executive functions (Dawson, 1996). The widespread nature of these defecits suggests multiple regions of the brain are involved at both the cortical and subcortical levels (Dawson et al., 2002; Happe & Frithe, 1996). The types of neuropsychological defecits also vary as a function of the severity of the child's disorder. For example, low-functioning children with autism may show impairments in masic memory functions, such as visual recognition memory, which are mediated by the brain's medial temporal lobe (Barth, Fein & Waterhouse, 1995). In contrast, high-functioning children may have more subtle defecits in working memory or in encoding complex verbal material, suggesting the involvement of higher cortical functions (Dawson, 1996).

Biological Findings
Brain imaging studies have looked for structural and functional abnormalities in brain development, or consistently localized brain lesions associated with the symptoms of autism (Brambilla et al., 2003; Rumsey & Ernst, 2000). Abnormalities in the frontal lobe cortex are consistently found in individuals with autism (Carper & Courchesne, 2000; Mundy, 2003). Studies have also consistently identified stuctural abnormalities in the cerebellum and in the medial temporal lobe and related limbic system structures (Saitoh & Courchesne, 199 cool .

The cerebellum, a relatively large part of the brain located near the brain stem, is most frequently associated with motor movement. However, it is also periodically involved in language, learning, emotion, thought, and attention (Courchesne, Townsend & Chase, 1995). Specific areas of the cerebellum are found to be significantly smaller than normal in a majority of individuals with autism (Courchesne et al., 1995). It is been proposed that cerebellar abnormalities may underlie the problem that children with autism have in rapidly shifting their attention from one stimulus to another.

A second localized brain abnormality is in the medial temporal lobe and connected limbic system structures such as the amygdala and hippocampus (Baron-Cohen et al., 2000; Howard et al., 2000). These areas of the brain are associated with functions that are often disturbed in children with autism, for example, emotion regulation, learning, and memory. The amygdala plays an especially important role in recognizing the emotional significance of stimuli, the perception of eye gaze direction, and, with the hippocampus, in long-term memory. Findings from brain scan studies suggest both structural and functional abnormalities in the amygdala of those with autism, although not in all cases (Salmond, de Haan, Friston, Gadian, & Vargha-Khadem, 2003).

Studies of brain metabolism in individuals with autism suggest decreased blood flow in the frontal and temporal lobes. Studies have also found a decrease in the functional connections between cortical and subcortical regions, and a delay in the maturation of the frontal cortex, as indicated by reduced cerebral blood flow in the frontal brain regions of preschool-age children with autism. These findings suggest a possible delay in the maturation of the frontal lobes that is consistent with clinical findings related to defecits in executive functions in autism (Zilbovicius et al., 1995).

Numerous hypotheses concerning neurotransmitter abnormalities in autism have been proposed (E.H. Cook, 1990; Narayan, Srinath, Anderson & Meundi, 1993). The most consistent finding is that about one-third of individuals with autism show elevated levels of whole blood serotonin (E.H. Cook & Leventhal, 1996). However, the significance of this finding in relationship to associated behaviors or treatment has yet to be demonstrated.

Autism As a Disorder of Brain Development
Collectively, biological findings support the prescence of a pervasive abnormality in brain development in autism that produces generalized impairments in complex information-processing abilities (Gillberg, 1999). Several events in neuronal brain organization have been implicated, including dendritic and axonal development, the establishment of synaptic contacts, and programmed cell death and selective elimination of neuronal processes (Minshew, 1996). Given the difficulties of processing social information, it has been suggested that autism may involve disfunction of a brain system that is specialized for social cognition, possibly the medial temporal lobe and orbital front lobe (Baron-Cohen et al., 1999). With regard to possible neuron subtrates for the early symptoms of autism, the amygdala in particular seems to be connected with early defecits in orientating to social stimuli, motor imitation, joint attention, and empathy (Dawson et al., 2002).


Treatment of Autism
The limited success of current treatments in completely eliminating the symptoms of autism makes many parents feel vulnerable to new claims of dramatic improvements. This is especially true for widely-publicized treatments such as dietary modifications (eg - gluten-free and casein-free diets), auditory training, sensory integration, and facilitated communication. These treatments have not lived up to their claims under close scientific scrutiny (Gresham, Beebe-Frankenberger & MacMillan, 1999; Jacobson, Mulick & Schwartz, 1995; Volkmar, 1999).

Although behavioral, educational and medical treatments may improve learning and behavior, and may permit a few children to achieve near-normal functioning, there is no known cure for autism. Most treatments are directed at maximizing the child's potential and helping the child and family cope more effectively with the disorder (Volkmar, Cook, Pomeroy, Realmuto, & Tanguay, 1999). Promising new programs of early intervention, community-based education, and community living options are all reasons for optimism about improving outcomes for children with autism (Newsom & Hovanitz, in press). Most children treated using these newer methods show significant developmental gains, particularly in measured IQ (gains from 7 - 28 points). Nevertheless, controlled studies are needed before long-term outcomes can be fully assessed (T. Smith, 1999).

Note: Because this is such a long section, here is a brief summary of the rest of the chapter and its topics:

- Initial Stages of Treatment
-- Building rapport with the child
-- Teaching learning readiness skills
-- Reducing or eliminating disruptive behavior

- Teaching Appropriate Social Behavior
-- Tecahing imitation and observational learning
-- Expressing affection
-- Social play and social skills groups
-- Peer-mediated procedures --> Peer-initiated procedures and Child-initiated procedures.
-- Sibling-mediated procedures

- Teaching Appropriate Communication Skills
-- Operant speech training --> Verbal imitation, receptive labeling, expressive labeling, and incidental teaching.
-- Sign language training

- Family Intervention
-- Behavioral parent training
-- Parent counseling

- Early Intervention
-- Preschool programs
- Home-based programs

- Educational Interventions

- Psychopharmalogical/Somatic Interventions

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Rett's Disorder

Rett's Disorder is a severe and disabling neurological developmental disorder that predominantly affects females. The disorder was discovered by Andreas Rett (1966) in his clinic in Vienna, Austria, where he observed two girls in his waiting room making identical stereotyped hand-washing movements. Only female cases have been reported to date, although variants of the disorder have been reported in a few males (Leonard et al., 2001). After examining these children, Rett noted a remarkably similar pattern of early development and symptoms. Girls with Rett's Disorder have a normal head circumference at birth. However, following a period of apparently normal prenatal and early development for the first 6 - 12 months of life, they begin to display a specific pattern of defecits that include:

- Deceleration of head growth betwen ages 5 months and 48 months [4 years].

- Loss of previously acquired purposeful hand skills between ages 5 months and 30 months, with the subsequent development of stereotyped hand movements (eg - hand-wringing or hand-washing).

- Loss of social engagement early in the course (although social interaction often develops later).

- Appearance of poorly co-ordinated gait or trunk movements.

- Severely impaired expressive and receptive language development with severe psychomotor retardation.


Rett's Disorder occurs in about 1 - 4 per 10,000 females (Fombonne, Simmons, Ford, Meltzer, & Goodman, 2003). It is a severe neurological developmental disorder, caused by specific X-linked gene mutations found in more than 80% of those affected (Huppke, Held, Laccone, & Hanefeld, 2003). These mutations are usually lethal to the male fetus, therefore Rett's occurs almost exclusively in females (Bienvenu et al., 2000). Although the most dramatic effects of these mutations occur between 8 and 18 months, recent findings suggest that more subtle effects may occur earlier in development than previously thought and are present at birth (Huppke et al., 2003). Although the presentation of Rett's Disorder can vary, ranging from extremely severe with almost no development to a mild mental handicap, most of those affected experience a variety of serious problems, including severe or profound mental retardation, epileptic seizures, motor handicaps, and difficulties with communication (Hagberg, 1995; Huppke et al., 2003). Apraxia, the inability to execute desired movements, is common in girls with Rett's; 25% of the girls may never walk, and about 50% of those who do walk will lose the ability. Most girls with Rett's Disorder are severely impaired and are likely to need assisstance with all activities of daily living, including feeding, dressing, and toileting.

Girls with Rett's Disorder have brains that are 12% to 34% smaller than other children's brains, with reduced size and increased density of neuronal cells found extensively throughout the forebrain (D.D. Armstrong, 1992; M.L. Bauman, Kemper, & Arin, 1995). Decreased length and complexity of dendritic branching have been found in all areas of the cortex, suggesting deficiencies in dendritic and synaptic development (D. D. Armstrong, 1992). The brain abnormalities in Rett's Disorder appear to be diffuse, which suggests a reduction in brain maturation prior to birth (M.L. Bauman, 1996).


Links for Rett's Disorder (not from textbook)

- Rett's Disorder.

- What is Rett Syndrome?

- BPhoenix: Information on Rett's Disorder.

- Rett's Disorder - Spectrum Disorders - Autism Society of America.

- Rett's Disorder: Definition, Description, Causes and Symptoms, Demographic, Diagnosis and Treatment.

Pervasive-Development Disorder- Not Otherwise Specified (PDD-NOS)

Pervasive-Development Disorder- Not Otherwise Specified (PDD-NOS) describes children who display the social, communication, and behavioral impairments associated with PPD's, but do not meet criteria for other PDD's, schizophrenia, or other disorders (Volkmar, Shaffer, & First, 2000). PDD-NOS might better be called atypical autism, since the category is often used to describe children who fail to meet criteria for autisitic disorder because of their late age of onset, atypical symptoms, subthreshold symptoms, or a combination of these. Concern has been expressed that this category as currently defined in DSM may be too broad (Volkmar et al., 2000).


Links for Pervasive-Development Disorder- Not Otherwise Specified (PDD-NOS) (not in textbook)

- Pervasive-Development Disorder- Not Otherwise Specified (PDD-NOS).

- Disability Info: Pervasive Development Disorders.

- Pervasive Development Disorders: PDD-NOS, Asperger's Disorder, and Autism.

- PDD - Not Otherwise Specified - Spectrum Disorders - Autism Society of America.

- Pervasive Development Disorder.

Personal Experiences Regarding Autism, or Knowing Someone Who Has Autism.







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More will be added if people post personal experiences. heart

Reserved.

Nikolita, thanks for posting this. I am a high-functioning autistic. I was diagnosed when I was three. My mom is a teacher, so I think she knew what signs to look for.

I did not have any of the speech or mental impediments (other than lacking social skill), but many of the things mentioned applied to me. For example, when I was four, I was obsessed with a car salesman on TV. No matter what I was doing, I would have to stop and watch the commercial whenever it came on. One night, it came on after I went to bed. Once I heard it, I ran out of bed and knocked my grandma over so that I could watch the commercial.

My parents worked with me and taught me proper social behavior, so I'm pretty much cured. One symptom that remains with me is my poor motor skills. My handwriting is crap, and I didn't learn how to tie my shoes until I turned 12. Even though most of the experience is behind me, I'm always interested in learning more about it.