113 Autistic Disorder (299.00)

Introduction

Autism is the most commonly studied of a spectrum of developmental disorders that are believed to be neurobiologically based but which, at this point, for lack of good biomarkers, are defined purely by behavior. In the last 20 years, the definition of autism has shifted in emphasis from extreme aloofness and positive signs of abnormality in repetitive and sensorimotor behaviors to a greater awareness of the importance of more subtle reciprocal social communication deficits as core features. Standard diagnostic instruments were developed for research purposes to acquire information both through caregiver interviews and direct clinical observation. Use of these instruments in clinical practice resulted in major improvements, which in turn affected research results. These results yielded further improvements that led to changes in clinical practice over time (Lord, 2010).

Autistic Disorder is referred to several different ways including early infantile autism, childhood autism, or Kanner’s autism.

Autism is the most representative type of PDD, as well as the most researched. This subtype was first characterized by Leo Kanner in 1943 (Hoffman, 2009).

He reported several principal distinctions of the disorder, to include the following:

  • inability to relate socially
  • inability to convey meaning through language
  • insistence on sameness in daily routines.

He also asserted that this disorder was innate, which reflects our current research on the heritability of autism.

DSM-IV-TR criteria

A. 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. Qualitative impairment in social interaction, as manifested by at least two of the following:
    • Impairments in social interaction may include the following (Hoffman, 2009):
      • Pronounced deficits in non-verbal social behavior
        • Lack of eye contact
        • Facial expressions
        • Body posturing
        • Gesturing
      • Lack of age-appropriate peer relationships
        • Possibly interacting with parts of people
      • Absence of spontaneous attempts to share interests or pleasure with others
        • Not pointing to or showing things to others
      • Lack of social/emotional reciprocity
        • Lack joint attention
        • Fail to share actively with other’s activities or interests
        • Act as if unaware of the presence of others
        • Select solitary activities
  • 2. Qualitative impairments in communication including both verbal and nonverbal communication, as manifested by at least one of the following (Hoffman, 2009):
    • Delay or absence in spoken language
      • not compensated for by attempts to communicate nonverbally
    • Inability to converse appropriately with others regardless of the presence of speech
    • Odd, stereotyped, repetitive uses of language
    • Absence of imaginative or pretend play
    • There is also a great deal of variability in communication…
      • Ranging from the absence of expressive or receptive language to fluent speech with semantic/inappropriate social uses.
      • Echolalia is the repetition of a phrase heard in the present or the past.
        • Occurs in up to 75% of individuals with PDD who are verbal
        • This characteristic is a cardinal feature of autism.
      • Receptive language continues to impair social communication in that individuals have difficulties in understanding abstractions.
        • Echolalia and receptive language are not utilized in a functional communicative fashion by those with autism.
  • Restricted and stereotyped behavioral patterns require at least one of the following criterion (Hoffman, 2009):
    • Restricted interests that are abnormally intense
      • Can range from cars and trains to numbers and letters
      • Inappropriately intense or odd in their content
    • Rigid adherence to routines or rituals
    • Repetitive motor mannerisms
      • Opening and closing doors
    • Preoccupation with parts of objects
      • May become overly interested in moving parts of objects
    • Compulsive behaviors
      • Lining up objects in a specific way
      • Slight alterations in routines can cause behavioral outbursts
    • Motor stereotypes
      • Hand or finger-flapping
      • Rocking
      • Spinning
    • Non-specific motor abnormalities
      • Toe walking
      • Unusual hand movements or body postures
    • Continuous course for those with autism however, school-aged children may show improvements in social, play, and communicative functioning, which ultimately can improve further intervention.

B. Delays 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.

C. The disturbance is not better accounted for by Rett’s Disorder or Childhood Disintegrative Disorder.

Associated features

  • Children tend to be diagnosed with autism at a fairly young age due to early signs and symptoms
    • Usually, during the first three years, the child starts to exhibit autistic actions.
  • Children with autism tend to have difficulties with attention, concentration, and behavior.
  • Sometimes, the behavioral problems the child displays could consist of things such as self-injurious behavior (e.g. biting oneself, slapping, hair pulling, or head banging) or aggression towards others (e.g. biting others, ).
    • Self-injurious behavior may be more linked to mental retardation.
    • Symptoms can generally be seen before 12 months, but at least by 24 months.
  • Distinguishing between current and lifetime symptoms is very important.
    • One has to consider the developmental appropriateness of behavior.
    • Research suggests that imaging studies may be abnormal in some cases but there has been no distinct pattern to suggest this is the most valuable resource available to diagnose Autistic Disorder in an individual.
    • EEGs are often are useful in detecting abnormalities in these individuals even in the absence of seizure disorders.
  • Many individuals with autism might struggle with social interaction.
    • “Simple” social interactions tend to be more difficult for autistic individuals.
      • Sharing information or feelings with others are found to be very uncomfortable and uneasy for autistic individuals.
    • Individuals with Autistic Disorder often take speech literally.
      • For example, if one were to say that it is raining cats and dogs, the autistic individual would expect for it to literally be raining cats and dogs.
      • It is often difficult for an individual with autism to interpret humor in normal social conversations due to the lack of communication skills that they possess.
      • Significant impairments in eye-to-eye contact, facial expressions, body posture, and gestures make it extremely difficult for a person with autism to maintain social interactions and communication with their peers.
      • Failure to develop relationships with peers sometimes results in the formation of others that are inappropriate to the autistic individual’s developmental level.
  • Speech can be difficult for people with autism and may come in various forms
    • echolalia (the involuntary repetition of words spoken by another person)
    • unusual word use
    • irregular syntax
      • Impairments in pitch, intonation, rate, or rhythm
      • stress placed on certain words may also be abnormal
      • Nonverbal cues tend to be misunderstood
  • Related symptoms of Autism
    • Lack of eye contact
    • slow developmental skills
    • indicating needs by gestures
    • resistance to change in routine
    • hyperactivity or extreme passivity
    • resisting cuddling
    • “standoffish” attitude
    • eating disturbances
    • resisting learning
    • no fear of real dangers
      • exhibiting abnormal fears of everyday objects related to sensory experiences (e.g. trains)
      • display over and under reaction to sounds with a hypersensitivity to certain textures
    • out of place laughing or crying
    • inappropriate attachment to objects
    • basic difficulties
      • (e.g. sleeping)
    • requiring less sleep for normal functioning
      • Lack of sleep disturbances or need for sleep seems to improve over time, but more research is needed
    • not demonstrating affection easily
    • savant abilities
    • expression or frustration through self-injury like head banging
      • could be a closer link to mental retardation. .
    • Eating disturbances
      • unusual food rituals and preferences
      • continue to adulthood
      • People with autism display over and under reaction to sounds with a hypersensitivity to certain textures
    • High pain tolerance
    • exhibit primitive reflexes, delayed development of hand dominance, and other nonspecific neurological symptoms
    • Particularly in adolescence, as many as 25% of the cases diagnosed with autism may develop seizures.
  • Blueler first used the term “autism” to describe schizophrenics who had lost touch with reality.
    • Mothers and fathers are seen as responsible for the development of the disorders and are described as “refrigerators” and “freezers.”
      • Calling the parents of Autistic children “refrigerator mothers” and “freezer fathers” was in attempts to describe their personalities towards their children as cold and emotionless therefore leading to the child’s disorder.
    • There have been group deficits in affecting social, affective, linguistic, behavioral, and cognitive development.
    • Prior to age three, there are delays in social interaction, language as used in social communication, and symbolic or imaginative play.
      • There are deficits in social abilities that seem to be due to impairments in understanding and responding to social information. Also impairments in imitative abilities, both immediate and deferred, have been linked to expressive language deficits later.
      • There are joint attention skills that are impaired compared to others of the same intelligence and decreased orientation to stimuli, especially social.
      • Facial perception is also impaired, and people with autism are less likely to recognize someone they have already seen.
        • A person with autism may focus on abnormal areas of the face, like looking at a person’s mouth instead of in their eyes when communicating.
      • Delays in language precursors cause significant problems with language such as echolalia, abnormal prosody, and pronoun reversal or only using names later in life.
      • Social or pragmatic language is most impaired such as using irrelevant details, preservation, inappropriate shifts in topics or ignoring social cues and intentions of the other person in conversation may be due to “mind-blindness.”
    • People with relatives that are autistic are more likely to also ignore social cues such as being unable to detect when another person needs or wants to leave a conversation.
    • Individuals with Autistic Disorder often lack the ability to interpret slang phrases in normal conversations.
      • An individual with Autism will take everything that is said in a conversation literally which, unfortunately, makes communication even more difficult.
  • Kanner and Asperger described different types of autistic children in the 1940s.
    • Asperger saw deficits in pronoun reversal, echolalia, and social interaction problems.
    • Kanner saw the same deficits with language problems added.
      • Early signs are affective, social, behavioral, and cognitive development. Impairments in understanding and responding to social information and there are secure attachment patterns that are seen in 40 to 50 percent of autism children, contrasting with 65 percent in the general population.
      • Imitative abilities have been linked to different disorders later in development.
  • There has been some talk of autistic children possessing special talents and abilities due to their condition.
    • Musical ability, math skills, and reading/writing abilities have all been publicized.
      • Though all of these abilities have appeared in autistic children, it is pretty rare.
      • When these skills do appear, they seem to be caused not by increased mental ability but from lack of social skills causing an increased ability to concentrate.
        • With no other distractions, the increased attention span allows the child to learn to full ability.
  • People who report higher degrees of autism traits also report experiencing increased difficulties with executive control.
    • In addition, ASD and ADHD traits were associated with unique contributions to the executive control profile of individuals with subthreshold autism symptomatology (Christ, Kanne, & Reiersen, 2010).
  • It is sometimes difficult to diagnose autistic symptoms masked by intellectual disabilities.
    • Research on the prevalence of autism in Iceland has indicated that one possible explanation of fewer autism cases in older age groups was due to an underestimation of autism in individuals with intellectual disabilities (IDs).
    • The study identified twice the number of autism cases than those previously recognized within the service system.
    • Autism is a prevalent additional handicap in individuals with severe ID, which should always be considered in this population (Saemundsen, Juliusson, Hjaltested, Gunnarsdottir, Halldorsdottir, Hreidarsson, et al., 2010).
  • Cognitive disabilities are not part of the DSM-IV-TR criteria; however, most children with autism suffer from mild to profound mental retardation (Hoffman, 2009).
    • Nonverbal skills are superior to verbal skills
    • Irregular and variable allocation of cognitive abilities
    • Can be comorbid with conditions causing mental retardation
      • Fragile X Syndrome
      • Tuberous Sclerosis
    • Females with autism suffer more severe mental retardation
    • Seizure disorders are common in autism and other PDDs
    • Evidence that head circumference is normal at birth and results in macrocephaly (larger head) by 6-12 months
      • Abnormal response to stimuli
        • Hypersensitivity to noise
        • Decreased sensitivity to pain
  • Facial recognition is usually impaired (Hoffman, 2009).
    • Evidence of decreased activation of the fusiform region and amygdala when perceiving faces
    • Several studies show evidence of children diagnosed with autism spend more time focusing on individual’s mouths and bodies vs. eyes, thus causing them to miss social cues.

Child vs. adult presentation

  • Children tend to be diagnosed at a very young age
    • extremely rare to diagnose an adult with autism
    • Autism is a lifelong disorder.
      • The MMR vaccinations given to some children presumably caused autism
        • no concrete evidence to support that theory
      • Currently in the United States, 300,000 individuals have autism
      • 270,000 are thought to be young children
      • Approximately 14,000 older children
      • An estimated 22,000 adolescents and adults
  • some other prevalence rates in the overall population for autism tend to be shown in ways such as:
    • 90% of costs are in adult services
    • 1 in 150 births are autistic
    • 1.5 million Americans may be affected with autism
    • 10-17% annual growth.
    • 1 to 2 per 1,000 in children
    • 60 cases per 10,000 children
  • Parents often mistake autism in infants as deafness due to the following characteristics:
    • failure to cuddle
    • indifference or aversion to physical contac or facial responsiveness, or smiles
    • failure to respond to parents’ voices.
  • There is no period of unequivocally normal development
    • Almost 20% of parents report normal development for 1 to 2 years
      • Often appear to stagnate developmentally
      • Normal development of vocabulary is limited.
    • Young children may treat adults as interchangeable, cling to a specific person, or use a parent’s hand to obtain objects without ever making eye contact
    • Over time, the child may show increased interest in social interaction, although still treating people in the usual ways.
    • In others, tasks involving long-term memory may be excellent, but the information tends to be repeated regardless of its appropriateness.
    • Children and adolescents have difficulty in their ability not only to communicate verbally but also have problems with written expression.
      • It is difficult for them to interpret written language, analyze, and then respond to what they have heard which makes educating an autistic child extremely challenging.

Twin and family studies have established that there is a strong genetic basis for autism spectrum disorders. To facilitate the identification of susceptibility genes and to study pathways from gene-brain to cognition a more refined endophenotype-based approach may be useful. The neurocognitive endophenotype of autism was examined in families with multiple incidence autism. Children with autism showed weak central coherence but this “trait” could not be found in their parents nor in non-affected siblings. All family members, including the sibpairs with autism, showed deficits within executive functions, involving planning ability, but normal set-shifting. The sibpairs with autism–but not their other family members–showed significant correlations within two visuo-spatial tasks. Deficits in executive functions (specifically planning ability) appear to characterize the broader endophenotype of autism (Nyden, Hagberg, Gousse, & Rastam, 2011).

Motor skills were assessed in toddlers and it was demonstrated that atypically developing toddlers exhibited significantly greater motor skill abilities than toddlers with autistic disorder. No significant difference on gross or fine motor skill abilities were found between atypically developing toddlers and toddlers with pervasivedevelopmentaldisorder-not otherwise specified (PDD-NOS), or between toddlers with autistic disorder and toddlers with PDD-NOS. Gross and fine motor skills were found to be more impaired for toddlers with autistic disorder compared to the atypical development group. Furthermore, differences in gross or fine motor skills between the autistic disorder and the PDD-NOS group approached significance. (Matson, Mahan, Fodstad, Hess, J., & Neal, 2010).

There is a relationship between child symptom severity, parent broader autism phenotype (BAP), and stress and depression in parents of children with ASD. Parents reported elevated parenting stress and depression relative to normative samples. A path analysis indicated that both child symptom severity and parent BAP were positively correlated with these outcomes. The relationship between BAP and the outcome measures was partially mediated by maladaptive coping and social support and the relationship between child symptom severity and outcomes was partially mediated by social support (Ingersoll, & Hambrick, 2011).

Gender and cultural differences in presentation

Autism is more prevalent in boys than in girls with a 3 or 4:1 ratio, although females exhibit more severe mental retardation. Autism knows no “ethnic boundaries” because it is seen throughout the World. In some studies; however, some countries have higher percentages of autism. It is noteworthy that in one study Denmark and Finland were at 29.5% and 18% as two of the highest countries with autism in that one study. Autism is found throughout an assortment of geographical locations, social groups, and ethnic groups. Females tend to have lower intellectual functioning and more severe symptoms. Higher functioning females, however, show less severe symptoms than matched males.

The rates for autism is also affected by the size of the population, with larger populations having more cases of the disorder such as the U.S.

Epidemiology

In 1996 it is reported that 1 in 10,000 people were diagnosed with autism with a rate of 10-17% annually. About 10% of those with autism are savants. Autism is sometimes resembled by developmental language disorder and childhood-onset schizophrenia. Co-morbidity rates vary greatly by disorder and reveal that 40-69% have mental retardation, widely varied rates of depression and anxiety. The diagnosis of Mental Retardation in individuals with Autism can range from mild to profound. Tic behaviors are more common than in the population and high rates of seizure disorders also. Population estimates range from 16-62 per 10,000 across all PDDs. Most parents report symptoms before 12 months, but average diagnosis is at four years. There are instruments for early screening available but have their limitations. There is a lack of transition from university based to school based intervention programs that has hampered early intervention programs.

The onset of Autistic Disorder is prior to age three. Some parents will report being worried about the child since birth or shortly thereafter. In some cases, the child may have been developing normally during the first year. Autism has a continuous course. In children, developmental gains in some areas are common, but some individuals deteriorate during adolescence. Language skills and intelligence are the strongest factors related to prognosis. Only a small percentage go on to work and live independently. In about one-third of cases, some degree of partial independence is reached. Many facilities to improve daily living skills have been developed in order to teach those with Autistic Disorder daily living skills to provide a higher quality of life and independence. The highest functioning with Autism usually continue to show problems with social interaction and communication with restricted interests.

Etiology

Genetic factors appear to have a large effect on autism. Most autistic children inherit autism from their parents. There is an increased risk for autism among siblings of the individual with this disorder. It has been found that approximately 5% of siblings are also afflicted with this condition and may also be at higher risk for developmental delays.

Environment is a huge cause of autism. Exposure to chemicals in the environment are “neurodevelopmental toxins” for the baby.
Mercury, polychlorinated biphenyls, lead, brominated flame retardants and pesticides are all chemicals that with exposure could cause harm to a child. People with relatives that have autism are more likely to be autistic. There are two courses typically seen that include a symptom onset before twelve months, and a regular development followed by a loss of skills or regression before three years, primarily language. Seventy-five percent will not live independently, even with early interventions. High IQs and early development of social communication skills are related to better prognosis. Effective programs have high levels of family involvement, strategies for generalizing learned skills with a functional approach to problem behaviors. There is also common curriculum focusing on attention/compliance, motor imitation, communication, appropriate toy use, and social skills. There are high structured environments with low student-to-staff ratio.

Contrary to widespread beliefs in certain communities, there is no link between childhood vaccinations and autism. Indeed, in 2010 the British medical journal The Lancet retractedthe original 1998 paper by Andrew Wakefield that raised the possibility of a connection, citing concerns about ethical violations. In particular, Wakefield was found to have “been dishonest, violated basic research ethics rules and showed a “callous disregard” for the suffering of children involved in his research.” For more, please visit this NY Times article.

Empirically supported treatments

Pivotal Response Training (PRT) has been seen as an effective treatment for children with autism. The effectiveness of PRT increases the earlier the child begins the treatment (ideally before the age of four). PRT focuses on enhancing the relationship between social communication responses and the consequent reinforcers of such responses appear to increase behaviors characteristic of motivation and improve environmental and social interactions (Kazdin, 2003).
Interventions in which the child responds to a combination of maintenance and acquisition tasks, as seen in PRT, have resulted in improved correct responding (Dunlap, 1980), increased rate of target behavior acquisition, and positive child affect (Dunlap, 1984).

In children: parents, teachers, and therapists work together in efforts to help social adjustment and speech development. Typically, autistic children that are lower functioning are placed in a self-contained classroom in order to receive instruction which encompass daily living skills as well as general education. The eduction is adapted to each individual child’s developmental age with the goal to reach their biological age.

Behavioral treatment therapies should include clear instructions, performance of specific behaviors, immediate praise and rewards for performing the specific behaviors, gradual increase in complexity of behaviors, and definition of when and when not to perform the behaviors. Techniques such as redirection are used to combat negative behaviors both inside and outside the classroom in order to focus an autistic individual to perform the task at hand.

A loving and supportive family is important. Parents should be involved in treatment therapies. Good communication between the family, therapists, and educators are essential. It is important for the parents to be involved in the creation of an individual education plan (IEP) in order to set goals for their autistic child. This allows both parents and educators to be on the same page as to the steps they will take in order to achieve these goals. It is vital that tasks and behavior reinforcements maintain consistency between home and school.

Empirically supported diagnostic tools

Autism can be separated into high functioning (HFA) and low functioning (LFA). Some of the instruments used to diagnose autism are the Checklist for Autism Spectrum Disorder (designed for children with LFA and HFA), Childhood Autism Rating Scale (CARS) for children with LFA, and Gilliam Asperger’s Disorder Scale (GADS) with HFA. For children with LFA, classification accuracy was 100% for the Checklist and 98% for the CARS clinician scores. For children with HFA, classification accuracy was 99% for the Checklist and 93% for the GADS clinician scores (Mayes, Calhoun, Murray, Morrow, Yurich, Mahr, et al., 2009).

Experimental Psychology and Autism

Ropar, Mitchell, and Ackroyd (2003) performed an experiment to determine if children with autism had difficulty making alternative interpretations to ambiguous figures. The researchers had participants complete three different types of tasks. One of these types was an example of a theory of mind task. Ropar et al. (2003) showed participants a picture of a flower mostly covered up with a piece of paper that had a small square cut out of it. The square window displayed only a few lines of the flower drawing. Participants were asked what they thought the picture depicted. After the participants answered, the researchers uncovered the flower and again asked participants what they thought the picture was. Next, the researchers covered the flower drawing up with the paper mask, so that the square window again only showed a small portion of the picture. Participants were then asked what a friend might think the picture was of. Participants passed the theory of mind task if they correctly answered that another person would not know that the mostly covered picture was a flower. Participants did not pass the theory of mind task if they stated that another person would know that the picture was a flower (Ropar et al., 2003). The participants in this experiment were children with autism, children with moderate learning difficulties, and children of typical cognitive development. Results from the researchers’ experiment indicated that few children with autism provided correct answers on this task, while each child in the control group answered correctly (Ropar et al., 2003). These results suggest that children with autism have difficulty perceiving others people’s personal mental space.

It is important to examine practical applications of previous and current research on mental space, ambiguous figures, and theory of mind. For example, autism is a neural developmental complication characterized by constrained social interaction and communication. Research may indicate that children with autism have difficulties with ambiguous figure reversals and theory of mind tasks, which are related to impaired social skills (Gopnik & Rosati, 2001). Specifically, it has been postulated that social withdrawal in children with autism is correlated to lack of fixation on faces (Riby & Hancock, 2009). In a recent study, Riby and Hancock (2009) used a Tobii 1750 eye-tracker to record the fixation duration on faces by participants with and without autism. The researchers had participants view two kinds of pictures displayed on a computer screen. The first set of pictures depicted natural landscapes. Half of these pictures contained only landscapes, while the other half had small faces embedded in the scene (Riby & Hancock, 2009). The second set of pictures depicted scenes with people in them that had been scrambled so that each square was a piece of the picture, but out of order (Riby & Hancock, 2009). The experimenters’ results indicated that participants with autism made significantly shorter face fixations than participants that were typically developed.

Eye fixation research has many applications in psychology. Eye-tracker devices can measure eye fixations on different cognitive tasks such as processing linguistic information, reading, problem solving, processing spatial information, and processing real-world scenes (Just & Carpenter, 1976). Other research with eye-trackers has shown that adults of normal cognitive functioning fixate mostly on the eyes when viewing faces (Walker-Smith, Gale, & Findlay, 1977). However, people with autism tend to spend less time fixating on the eyes and other defining features of faces (Boraston & Blakemore, 2007). According to Boraston and Blakemore (2007) “… eye-tracking could be a way of closing the gulf between performance on cognitive tests and everyday social ability of individuals with autism” (p. 895).

Impaired performance in a range of imitation tasks has been described in children with autism spectrum disorders (ASD) and several underlying mechanism have been suggested. It has been examined whether imitation abilities are related to autism severity and to motor skills. Furthermore, the performance of children with ASD in four imitation situations (body movements and “action on objects”, using meaningful and non-meaningful tasks) was compared. Comparison of the four imitation situations revealed that performances of meaningful actions were better than non-meaningful actions and imitation of “action on objects” was better than imitation of body movements. The current research supports the fact that socio-communication deficits and not motor abilities are linked to imitation abilities in young children with autism (Zachor, Ilanit, & Itzchak, 2010).

Atypical forms of autism may yield insights into the development and nature of the syndrome. A study of nine congenitally blind and seven sighted children who, eight years earlier, had satisfied formal diagnostic criteria for autism and had been included in groups matched for chronological age and verbal ability. A substantially higher proportion of blind (eight out of nine) than sighted (none out of seven) children now “failed” to meet formal DSM criteria for autism. Follow-up of nine congenitally blind children with autism revealed that, in adolescence, only one still satisfied diagnostic criteria for the syndrome (Hobson & Lee, 2010).

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