eMedicine Specialties > Pediatrics: Developmental and Behavioral > Medical Topics

Autism

Author: James Robert Brasic, MD, MPH, Research Associate, Division of Nuclear Medicine, Russell H Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine
Contributor Information and Disclosures

Updated: Jul 13, 2009

Introduction

Background

Autism is a condition that manifests in early childhood and is characterized by qualitative abnormalities in social interactions, marked aberrant communication skills, and restricted repetitive and stereotyped behaviors.

Most individuals with autism also manifest mental retardation, typically moderate mental retardation with intelligence quotients (IQs) of 35-50 (approximate numbers). Although often difficult to evaluate with intelligence tests, three fourths of children with autism function in the mentally retarded range. Generally, the lower the IQ, the greater the likelihood of autism. However, the low functioning level hinders assessment for key characteristics of autism in individuals with profound mental retardation and IQs below approximately 20. Thus, diagnostic instruments for autism may give spurious results in children with profound mental retardation.

The diagnosis of autism in a child with profound mental retardation requires an experienced clinician. This article addresses the problems of individuals with mental retardation. For information concerning individuals with autism spectrum disorders and related conditions without mental retardation, please see Pervasive Developmental Disorder: Asperger Syndrome.

Seizure disorders are common in individuals with autism. Movement abnormalities are a prominent feature in a subset of individuals. Motion anomalies have been reported at birth in some individuals. Motion analysis may provide evidence of autism in early infancy before other manifestations occur. Although autistic disorder was initially reported in children of high social class, subsequent research has established that autistic disorder equally afflicts all social classes.

The motion anomalies demonstrated by children with autism are often highly characteristic. Children with autism who exhibit motion anomalies often stand out as odd in crowds because of the motions. An example of a motion typical in autism occurs when the child places a hand with fingers separately outstretched before the eyes and rapidly moves the hand back and forth. This action is described as self-stimulation because it produces a visual sensation of movement. Many of the motions of children with autism appear to be attempts to provide sensory input to themselves in a barren environment. Through special education, children may learn not to perform movements. The movements may then be exhibited at times of particular stress or excitement.

Although the etiology is unknown, hypotheses include genetic abnormalities; obstetric complications; exposure to toxic agents; and prenatal, perinatal, and postnatal infections. Maternal rubella is associated with significantly higher rates of autism and other conditions in children. Additionally, tuberous sclerosis is associated with autism as a comorbid disorder. On the other hand, anecdotal reports that autism may be linked with vaccinations for measles, mumps, and rubella have not been confirmed. Approximately 10% of children with a pervasive developmental disorder exhibit a known medical condition.

Effective treatment of associated behavioral problems includes intensive behavioral, educational, and psychological components. Interventions initiated at the time of diagnosis increase the likelihood of a favorable outcome. Regular screening of infants and toddlers for symptoms and signs of autistic disorder is crucial because it allows for early referral of patients for further evaluation and treatment.

Although psychoanalytic approaches to treatment of children with autism were common in the mid-20th century, these approaches were not found to be effective and are no longer used. The initial clinical descriptions of autism suggested that cold, rejecting parents ("refrigerator mothers") caused autism in offspring; however, careful study of children with autism and their parents has disproved this hypothesis. Autism is not caused by a lack of warmth and affection in parents. Autism is not due to any emotional or psychological deficits in the parents. Blaming parents for the development of autism in their children is inappropriate.

A major problem in the public health of children with autism and other pervasive developmental disorders is the inconsistent diagnosis of autism. Criteria for the diagnosis of autism are included in the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (DSM-IV-TR[TM]) and the International Classification of Diseases, Ninth Revision, Clinical Modification, Fourth Edition.1,2 Although the criteria for autism and other pervasive developmental disorders differ between the DSM-IV-TR(TM) and the ICD-9-CM, they are both widely accepted and are used around the world by clinicians and researchers.

A discussion of the differences in the criteria for autism and related conditions in the DSM-IV-TR(TM) and the ICD-9-CM and other nomenclatures is beyond the scope of this article. The key point for pediatricians and other clinicians is that the criteria for autism and related conditions in the DSM-IV-TR(TM) and the ICD-9-CM are presented in an outline form without a discussion of the terms used.

The DSM-IV-TR(TM) and the ICD-9-CM are poor textbooks of child development and child psychopathology; they do not fully describe the concepts incorporated in the criteria for autism and related conditions. Therefore, an inexperienced clinician is likely to incorrectly apply the criteria for autism and related conditions in the DSM-IV-TR(TM) and the ICD-9-CM.

Several instruments have been developed to diagnose autism and other pervasive developmental disorders. To administer tools for the diagnosis of autism and related conditions in a reliable and valid manner, extensive training and experience is needed. Therefore, unless they have vast experience with children with autism and understand the concepts implicit in the diagnostic criteria and rating scales, pediatricians and other clinicians are advised to refer patients with possible autism to experienced clinicians for definitive diagnostic evaluations. One goal of this article is to convey fundamental concepts related to autism and related conditions. Readers of this article must obtain considerable additional training before they can reliably and validly apply diagnostic criteria and rating tools.

Pharmacotherapy is ineffective in treating the core deficits of autism but may be effective in treating associated behavioral problems and comorbid disorders. The possible benefits from pharmacotherapy must be balanced against the likely adverse effects on a case-by-case basis.

Pathophysiology

Neuroanatomic and neuroimaging studies reveal abnormalities of cellular configurations in several regions of the brain, including the frontal and temporal lobes and the cerebellum. Enlargements of the amygdala and the hippocampus are common in childhood. Findings vary in each person. Hughes (2007) has observed the presence of underconnectivity in the brains of children with autism and related conditions.3 This finding provides a basis for further investigation of autism and other pervasive developmental disorders.

Abnormalities in affiliative behaviors of other species, which are associated with dysfunction of serotonin and the neuropeptides, oxytocin, and vasopressin, suggest that there may be a neurophysiological dysfunction involving one or more of these substances in autism in humans.

Elevations of whole blood serotonin occur in one third of patients. Increased levels are also reported in the parents and siblings of patients. Individuals with autistic disorder and their mothers show elevated levels of C-terminally directed beta-endorphin protein immunoreactivity. The basis and importance of these findings is unknown. Test findings suggest that low-functioning children with autism may have impairment in the metabolism of phenolic amines. Therefore, symptoms of autistic disorder are possibly aggravated by the consumption of dairy products, chocolates, corn, sugar, apples, and bananas; however, no large population studies have confirmed this.

Many individuals with autism and related conditions experienced untoward events in the prenatal and neonatal periods and during delivery. The possible role of obstetric complications in the pathogenesis of autism and related conditions is unclear. Brasic and Holland (2006, 2007) and Brasic and colleagues (2003) have reviewed the literature on autism and obstetric complications.4,5,6 In particular Roberts and colleagues (2007) and Samson (2007) have reported an association between exposure to dicofol and endosulfan, organochlorine pesticides, in the first trimester of pregnancy in the Central Valley of California and the subsequent development of autism spectrum disorders in the child.7,8 Potential mothers can wisely be advised to avoid exposure to organochlorine pesticides.

Some children developed autism after immunizations, including inoculations for measles, mumps, and rubella. However, several population studies have demonstrated no association between childhood immunization and the development of autism and related conditions.9 Thompson and colleagues (2007) detected no causal association between exposure to vaccines that contain thimerosal and neuropsychological deficits at age 7-10 years.10 Parents can administer the recommended childhood immunizations without fear of causing autism and related conditions.11

Many other hypotheses, such as the consumption of folic acid in pregnancy, have been proposed as possible causes of autism. None has been established as a definite etiology of autism.

Frequency

United States

Autistic disorder and related conditions affect up to 10-20 individuals per 10,000 population. Estimates of the prevalence of autism suggest that as many as 400,000 individuals in the United States have autism and related conditions. Autism spectrum disorder is one of the most common childhood developmental disabilities. Current epidemiological studies are needed to identify the incidence, prevalence, and distribution of autistic disorder in the United States.

Epidemiological studies of relatively uncommon conditions such as autism spectrum disorders are expensive. A suitable strategy is the performance of multiple screenings on a population, each time identifying more likely subjects for detailed investigation. For example, a checklist such as the Autism Screening Checklist can be distributed to all parents and guardians of a target population. The Autism Screening Checklist identifies those children with characteristics of autism spectrum disorders. It differentiates children with autism spectrum disorders from children with schizophrenia and other psychoses. The higher the score on the Autism Screening Checklist (see Media file 1 for a printable version), the more likely the presence of autism spectrum disorders.

Autism screening checklist.

Autism screening checklist.

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Autism screening checklist.

Autism screening checklist.

International

Autistic disorder and related conditions affect up to 10-15 people per 10,000 population. Studies in Japan report much higher rates.12 Japanese investigators suggest that these findings reflect the careful evaluations performed by Japanese clinicians. Some studies suggest that infectious diseases that are prevalent in parts of Japan may account for higher rates of autistic disorder. Epidemiologic studies are needed to assess the current incidence, prevalence, and distribution of autistic disorder throughout the world. These studies may help focus on causality.

Mortality/Morbidity

The long-term outcome for individuals with autistic disorder is directly proportional to the IQ of individuals. In other words, individuals with autistic disorder and intellectual limitations have poorer outcomes. Individuals with autistic disorder and profound mental retardation may require constant care in a residential treatment facility.

Race

Japanese studies often indicate the more common occurrence of autism in Japan than in other countries.12 The high rates of autism reported in many Japanese studies may reflect higher incidence and prevalence in Japan. Alternatively, because Japanese clinicians are highly skilled to diagnose autism, they may identify cases that are overlooked in other countries. Some studies suggest that some cases of autism in Japan result from GI infections and other infections due to the ingestion of seafood and other aquatic sources of food characteristic of Japan.

Sex

  • The male-to-female ratio is 3-4:1.
  • Autistic disorder is most common in boys who have the 46,XY karyotype (ie, the karyotype of healthy normal boys). In some studies, fragile X is reported in approximately one tenth of males with autistic disorder.13,14,15,16,17,18

Age

  • Autistic disorder manifests in early childhood. Using contemporary criteria, the absence of abnormalities in the first 30 months of life rules out autistic disorder. For information about individuals with later onset of symptoms consistent with autistic disorder, see Pervasive Developmental Disorder: Childhood Disintegration Disorder, Pervasive Developmental Disorder: Rett Syndrome, Pervasive Developmental Disorder: Asperger Syndrome, and Pervasive Developmental Disorder (not otherwise specified).
  • Many parents report normal development in their child until age 2 years before noticing the deficits in social and communicative skills.
  • Individuals with autism spectrum disorder and unspecified pervasive developmental disorder typically benefit from behaviorally oriented therapeutic programs developed specifically for people with autistic disorder. Therefore, children who manifest symptoms of autistic disorder, other pervasive developmental disorders, and other autism spectrum disorders are likely to benefit from the highly specialized intensive intervention programs designed for children with these disorders.
  • Because optimal results occur when intensive interventions are administered early in childhood, autistic children should be placed in specialized programs as soon as the diagnosis is entertained. Delays in placement of a young child in a specialized program for children with autistic disorder may reduce the effectiveness of those interventions. Parents, pediatricians, other health care providers, and educators are advised to seek the assistance of people who are familiar with early intervention programs for children with autistic disorder. The Autism Society of America can help parents obtain appropriate referrals for optimal interventions.

Clinical

History

  • Environmental exposures: Roberts and colleagues (2007) and Samson (2007) have reported that women in the Central Valley of California who were exposed to endosulfan and dicofol, organochlorine pesticides, during the first trimester of pregnancy were more likely to have children with autism spectrum disorders.7,8  Thus, obstetricians and other health workers can wisely advise women who are likely to become pregnant to avoid contact with pesticides and other environmental contaminants.
  • Protodeclarative pointing
    • Protodeclarative pointing is the use of the index finger to indicate an item of interest to another person. Toddlers typically learn to use protodeclarative pointing to communicate their concern for an object to others.
    • The absence of protodeclarative pointing is predictive of the later diagnosis of autism. The presence of protodeclarative pointing can be assessed by interview of the parent or caregiver. As a screening question, Baron-Cohen and colleagues (1992, 1996) have demonstrated that the absence of a positive response to an inquiry about protodeclarative pointing is predictive of the later diagnosis of autism.19,20 Screening questions include "Does your child ever use his or her index finger to point, to indicate interest in something?" The absence of a positive response to this question suggests the need for a specialized assessment for possible pervasive developmental disorder.
  • Environmental stimuli
    • Parents report unusual responses to environmental stimuli, including excessive reaction or an unexpected lack of reaction to sensory input.
    • Sounds, such as vacuum cleaners or motorcycles, may elicit incessant screaming from a child with autistic disorder. Playing a radio, phonograph, or television at a loud level may appear to produce auditory stimulation of a painful magnitude. Sometimes parents must rearrange the family routine so that the child is absent during noisy housekeeping activities.
    • Children with autistic disorder may also display exaggerated responses or rage to everyday sensory stimuli, such as bright lights or touching.
  • Social interactions
    • Separation from parents may elicit a lack of appropriate eye contact and other symptoms that are typically seen in individuals with autism. Media files 5-6 illustrate the apparent indifference of a boy with autistic disorder to the departure and return of his father and his brother.

      This feature requires the newest version of Flash. You can download it here.

      The examiner may attempt to establish a sequence of taking turns hitting a plate with a block. The examiner says, "My turn," and then taps the plate. The examiner gives the block to the subject and says, "Your turn." The subject may be physically assisted in the activity if the desired response does not occur.

      The following is a clinical example: A 7-year-old boy with autistic disorder took daily vitamins and no other medications at the time of assessment. The examiner attempted to elicit turn-taking by hitting the plate with a block. The child repeatedly jumps and rotates. He exhibits nonfunctional play with the telephone. He tilts his head and peers out of the corner of his eye. He is interested in the feel of the stick. He exhibits quick hand movements with small toys.

      When his father and his brother leave the room, the child does not acknowledge their departure. When his father returns to the room, he does not run to greet him. He appears indifferent to the departure and the return of his father. He repeatedly touches the surface of the wooden block. He touches the surface of a furlike cloth. He also places this cloth to his mouth to feel the texture on his lips. He is also fascinated with a string of yarn. He moves the string of yarn up and down and back and forth. This is nonfunctional play with ordinary items.

      [ CLOSE WINDOW ]
      The examiner may attempt to establish a sequence ...

      The examiner may attempt to establish a sequence of taking turns hitting a plate with a block. The examiner says, "My turn," and then taps the plate. The examiner gives the block to the subject and says, "Your turn." The subject may be physically assisted in the activity if the desired response does not occur.

      The following is a clinical example: A 7-year-old boy with autistic disorder took daily vitamins and no other medications at the time of assessment. The examiner attempted to elicit turn-taking by hitting the plate with a block. The child repeatedly jumps and rotates. He exhibits nonfunctional play with the telephone. He tilts his head and peers out of the corner of his eye. He is interested in the feel of the stick. He exhibits quick hand movements with small toys.

      When his father and his brother leave the room, the child does not acknowledge their departure. When his father returns to the room, he does not run to greet him. He appears indifferent to the departure and the return of his father. He repeatedly touches the surface of the wooden block. He touches the surface of a furlike cloth. He also places this cloth to his mouth to feel the texture on his lips. He is also fascinated with a string of yarn. He moves the string of yarn up and down and back and forth. This is nonfunctional play with ordinary items.



      This feature requires the newest version of Flash. You can download it here.

      The following is a clinical example that continues the segment of Image 5: A 7-year-old boy with autistic disorder took daily vitamins and no other medications at the time of assessment. He appears indifferent to the departure of his brother from the room. He also does not respond with a greeting when his brother returns. He appears interested in his nonfunctional play. He displays minimal acknowledgment of the departure and return of his brother. In particular, he does not respond to his brother's touching him on the shoulder to greet him.

      Instead, he demonstrates inappropriate friendliness with the psychologist who is evaluating the procedures. Although he never saw her before this assessment, he suddenly goes to her to kiss her.

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      The following is a clinical example that continue...

      The following is a clinical example that continues the segment of Image 5: A 7-year-old boy with autistic disorder took daily vitamins and no other medications at the time of assessment. He appears indifferent to the departure of his brother from the room. He also does not respond with a greeting when his brother returns. He appears interested in his nonfunctional play. He displays minimal acknowledgment of the departure and return of his brother. In particular, he does not respond to his brother's touching him on the shoulder to greet him.

      Instead, he demonstrates inappropriate friendliness with the psychologist who is evaluating the procedures. Although he never saw her before this assessment, he suddenly goes to her to kiss her.

    • An absence of typical responses to pain and physical injury may also be noted. Rather than crying and running to a parent when cut or bruised, the child may display no change in behavior. Sometimes, parents do not realize that a child with autistic disorder is hurt until they observe the lesion. Parents frequently report that they need to ask the child if something is wrong when a change in the child's mood occurs. When injured, a child may not run to the parent to seek help. The parent may need to examine the surface of the child's body to detect the injury.
    • Difficulties in social interactions are common. Children may have problems making friends and understanding the social intentions of other children. Instead, they may show attachments to objects not normally predicted to be child oriented. Although children with autistic disorder may want to have friendships with other children, their actions may actually drive away other children.
  • Communication: Speech abnormalities are common. They take the form of language delays and deviations. Pronominal reversals are common, including saying "you" instead of "I."
  • Play
    • Baron-Cohen and colleagues (1992, 1996) have demonstrated that the absence of symbolic play in infants and toddlers is highly predictive of the later diagnosis of autism.19,20 Therefore, screening for the presence of symbolic play is a key component of the routine assessment of well babies. The absence of normal pretend play indicates the need for referral of specialized developmental assessment for autism and other developmental disabilities.
    • Odd play may take the form of interest in parts of objects instead of functional uses of the whole object. For example, a child with autistic disorder may enjoy repeatedly spinning a wheel of a car instead of moving the entire car on the ground in a functional manner. The nonfunctional play of a boy with autism is illustrated in Media files 4-6.

      This feature requires the newest version of Flash. You can download it here.

      A 7-year-old boy with autistic disorder took daily vitamins and no other medications at the time of assessment. The examiner repeated movements of the telephone receiver and tapping on the telephone receiver initially exhibited by the subject. The examiner repeated the subject's actions several times in an attempt to elicit repetition of the movement by the subject. Instead, the subject does not acknowledge the presence of the examiner. He looks away from the examiner. He turns his back to the examiner. The subject spins by rotating on a central vertical axis in his body. He exhibits nonfunctional play with the telephone. He displays frequent finger wiggling and the other hand stereotypies. He frequently vocalizes indecipherable sounds and briefly rocks. He tilts his head and looks out of the corner of his eye for a few seconds.

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      A 7-year-old boy with autistic disorder took dail...

      A 7-year-old boy with autistic disorder took daily vitamins and no other medications at the time of assessment. The examiner repeated movements of the telephone receiver and tapping on the telephone receiver initially exhibited by the subject. The examiner repeated the subject's actions several times in an attempt to elicit repetition of the movement by the subject. Instead, the subject does not acknowledge the presence of the examiner. He looks away from the examiner. He turns his back to the examiner. The subject spins by rotating on a central vertical axis in his body. He exhibits nonfunctional play with the telephone. He displays frequent finger wiggling and the other hand stereotypies. He frequently vocalizes indecipherable sounds and briefly rocks. He tilts his head and looks out of the corner of his eye for a few seconds.



      This feature requires the newest version of Flash. You can download it here.

      The examiner may attempt to establish a sequence of taking turns hitting a plate with a block. The examiner says, "My turn," and then taps the plate. The examiner gives the block to the subject and says, "Your turn." The subject may be physically assisted in the activity if the desired response does not occur.

      The following is a clinical example: A 7-year-old boy with autistic disorder took daily vitamins and no other medications at the time of assessment. The examiner attempted to elicit turn-taking by hitting the plate with a block. The child repeatedly jumps and rotates. He exhibits nonfunctional play with the telephone. He tilts his head and peers out of the corner of his eye. He is interested in the feel of the stick. He exhibits quick hand movements with small toys.

      When his father and his brother leave the room, the child does not acknowledge their departure. When his father returns to the room, he does not run to greet him. He appears indifferent to the departure and the return of his father. He repeatedly touches the surface of the wooden block. He touches the surface of a furlike cloth. He also places this cloth to his mouth to feel the texture on his lips. He is also fascinated with a string of yarn. He moves the string of yarn up and down and back and forth. This is nonfunctional play with ordinary items.

      [ CLOSE WINDOW ]
      The examiner may attempt to establish a sequence ...

      The examiner may attempt to establish a sequence of taking turns hitting a plate with a block. The examiner says, "My turn," and then taps the plate. The examiner gives the block to the subject and says, "Your turn." The subject may be physically assisted in the activity if the desired response does not occur.

      The following is a clinical example: A 7-year-old boy with autistic disorder took daily vitamins and no other medications at the time of assessment. The examiner attempted to elicit turn-taking by hitting the plate with a block. The child repeatedly jumps and rotates. He exhibits nonfunctional play with the telephone. He tilts his head and peers out of the corner of his eye. He is interested in the feel of the stick. He exhibits quick hand movements with small toys.

      When his father and his brother leave the room, the child does not acknowledge their departure. When his father returns to the room, he does not run to greet him. He appears indifferent to the departure and the return of his father. He repeatedly touches the surface of the wooden block. He touches the surface of a furlike cloth. He also places this cloth to his mouth to feel the texture on his lips. He is also fascinated with a string of yarn. He moves the string of yarn up and down and back and forth. This is nonfunctional play with ordinary items.



      This feature requires the newest version of Flash. You can download it here.

      The following is a clinical example that continues the segment of Image 5: A 7-year-old boy with autistic disorder took daily vitamins and no other medications at the time of assessment. He appears indifferent to the departure of his brother from the room. He also does not respond with a greeting when his brother returns. He appears interested in his nonfunctional play. He displays minimal acknowledgment of the departure and return of his brother. In particular, he does not respond to his brother's touching him on the shoulder to greet him.

      Instead, he demonstrates inappropriate friendliness with the psychologist who is evaluating the procedures. Although he never saw her before this assessment, he suddenly goes to her to kiss her.

      [ CLOSE WINDOW ]
      The following is a clinical example that continue...

      The following is a clinical example that continues the segment of Image 5: A 7-year-old boy with autistic disorder took daily vitamins and no other medications at the time of assessment. He appears indifferent to the departure of his brother from the room. He also does not respond with a greeting when his brother returns. He appears interested in his nonfunctional play. He displays minimal acknowledgment of the departure and return of his brother. In particular, he does not respond to his brother's touching him on the shoulder to greet him.

      Instead, he demonstrates inappropriate friendliness with the psychologist who is evaluating the procedures. Although he never saw her before this assessment, he suddenly goes to her to kiss her.

    • Children with autistic disorder may enjoy repeatedly lining up or dropping objects from a particular height.
    • Children may be fascinated with items that are not typical toys, such as pieces of string. Media file 5 illustrates the fascination of a boy with autism with a string of yarn. They may enjoy hoarding rubber bands, paper clips, and pieces of paper. They may spend hours watching traffic lights, fans, and running water.

      This feature requires the newest version of Flash. You can download it here.

      The examiner may attempt to establish a sequence of taking turns hitting a plate with a block. The examiner says, "My turn," and then taps the plate. The examiner gives the block to the subject and says, "Your turn." The subject may be physically assisted in the activity if the desired response does not occur.

      The following is a clinical example: A 7-year-old boy with autistic disorder took daily vitamins and no other medications at the time of assessment. The examiner attempted to elicit turn-taking by hitting the plate with a block. The child repeatedly jumps and rotates. He exhibits nonfunctional play with the telephone. He tilts his head and peers out of the corner of his eye. He is interested in the feel of the stick. He exhibits quick hand movements with small toys.

      When his father and his brother leave the room, the child does not acknowledge their departure. When his father returns to the room, he does not run to greet him. He appears indifferent to the departure and the return of his father. He repeatedly touches the surface of the wooden block. He touches the surface of a furlike cloth. He also places this cloth to his mouth to feel the texture on his lips. He is also fascinated with a string of yarn. He moves the string of yarn up and down and back and forth. This is nonfunctional play with ordinary items.

      [ CLOSE WINDOW ]
      The examiner may attempt to establish a sequence ...

      The examiner may attempt to establish a sequence of taking turns hitting a plate with a block. The examiner says, "My turn," and then taps the plate. The examiner gives the block to the subject and says, "Your turn." The subject may be physically assisted in the activity if the desired response does not occur.

      The following is a clinical example: A 7-year-old boy with autistic disorder took daily vitamins and no other medications at the time of assessment. The examiner attempted to elicit turn-taking by hitting the plate with a block. The child repeatedly jumps and rotates. He exhibits nonfunctional play with the telephone. He tilts his head and peers out of the corner of his eye. He is interested in the feel of the stick. He exhibits quick hand movements with small toys.

      When his father and his brother leave the room, the child does not acknowledge their departure. When his father returns to the room, he does not run to greet him. He appears indifferent to the departure and the return of his father. He repeatedly touches the surface of the wooden block. He touches the surface of a furlike cloth. He also places this cloth to his mouth to feel the texture on his lips. He is also fascinated with a string of yarn. He moves the string of yarn up and down and back and forth. This is nonfunctional play with ordinary items.

    • Some parents report that they must lock the bathroom door to prevent a child from flushing the toilet all day long.
  • Response to febrile illnesses
    • Children with autistic disorder may show a decrease in their odd behaviors during a febrile illness. Parents may report that when their autistic child has a fever, the child's behavior appears to be improved. Parents may say, "When he is suddenly an angel, I know that he has an ear infection." Some behavioral abnormalities that plague the parents when their autistic child is well, such as self-injurious behaviors, aggression toward others, property destruction, temper tantrums, and hyperactivity, may diminish and resolve temporarily during a febrile illness. Children who typically display uncontrollable behavior at school and at home may seem more manageable and obedient.
    • This inhibition of negative behaviors may occur with various febrile illnesses, including ear infections, upper respiratory tract infections, and childhood illnesses. The recovery of the child from the febrile illness may be accompanied by an abrupt return of the child's usual problem behaviors.

Physical

Screening well babies for signs predictive of autistic disorder is important. Baron-Cohen and colleagues (1992, 1996) observed that abnormalities in gaze monitoring, protodeclarative pointing, and pretend play noted in toddlers during well child visits in the United Kingdom was useful in predicting the later diagnosis of autistic disorder.19,20 Baron-Cohen and colleagues (1992, 1996) developed the Checklist for Autism in Toddlers (CHAT) to screen newborns and toddlers to rule out autism.19,20

  • CHAT screening
    • Although the CHAT has been reported to identify infants and toddlers in Britain who develop autism, the reliability and the validity of the CHAT have not been confirmed by other investigators with other populations. In particular, an item on the CHAT about pretending to pour tea from a toy teapot into a toy teacup is not likely to be meaningful to minority North American children because the cultural connotations may not be relevant to children outside the United Kingdom. However, a tea party with toy teacups and a toy teapot involves symbolic play. Because children with autism spectrum disorders may be unable to engage in symbolic play as other children, an item to assess the ability to participate in a tea party is useful in cultures in which a tea party is widely understood. The possible cultural biases of the CHAT limit its usefulness outside the United Kingdom. For this reason, direct application of the full CHAT is not recommended. Additionally, the specificity and sensitivity of the CHAT remain tobe ascertained in various cultures.
    • The items of the CHAT that are highly correlated with the diagnosis of autistic disorder are recommended. This discussion is limited to those items. Instead of asking the child to pretend to pour tea from a toy teapot into a toy teacup, the child is asked to pretend to drive a miniature car. Driving a car is important to minority North American children, whereas pouring tea is not. Although pretending to drive a car is not tantamount to pretending to pour tea, it is a good screen for minority North American children. The failure of a minority North American child to pretend to drive a miniature car constitutes a definite deficit in pretend play. Other make-believe play may be substituted based on cultural relevance. A child who does not respond appropriately to a pretend activity compared to most other children of the same culture merits referral for a specialized assessment to rule out autism and other developmental disabilities.
    • The assessment of normal gaze monitoring, suggested by Baron-Cohen and colleagues (1992, 1996), is composed of the following steps: The clinician calls the child's name, points to a toy on the other side of the room, and says, "Oh look! There's a [name a toy]!"19,20 If the child looks across the room to look at the item indicated by the clinician, then a joint attention is established, indicating normal gaze monitoring. The absence of a normal response merits referral for specialized assessment to rule out autism and other developmental disabilities.
    • Baron-Cohen and colleagues (1992, 1996) have established a protocol to assess for the presence of protodeclarative pointing in the evaluation of well babies as follows: "Say to the child, 'Where's the light?' or 'Show me the light.' Does the child point with his or her index finger at the light?"19,20 If the child does not respond appropriately to the light, the procedure may be repeated with a teddy bear or any other unreachable object. The child must look up at the clinician's face at the time of pointing to establish a normal response for this item. Absence of the expected response merits specialized clinical evaluation to rule out autism and other developmental disorders.
    • Unlike many other children with mental retardation, children with autistic disorder are typically physically normal in appearance, without dysmorphic features. Thus, among children with developmental disorders, children with autistic disorder and other pervasive developmental disorders may be remarkable for their pulchritude. For this reason children with autistic disorder and other pervasive developmental disorders may be vulnerable to sexual and physical abuse. Since children with autistic disorder and other pervasive developmental disorders may be unable to report abuse to authorities, parents and guardians must examine their children for evidence of abuse especially when behavioral changes are present.
  • Body movement
    • Some children with autistic disorder display choreoathetotic movements that resemble the movements seen in Sydenham chorea and other movement disorders. Stereotypies (patterned repetitive movements, postures, and utterances) constitute a common finding in many individuals with autistic disorder.
    • Common abnormal motor movements that occur in children with autism include hand flapping, a motion in which the upper extremity is rapidly raised and lowered using a flaccid wrist so that the hands flap like flags in the wind.
    • Hand flapping typically occurs when the child is happy or excited. Hand flapping may occur in combination with movement of the entire body, such as bouncing (ie, jumping up and down) and rotating (ie, constantly spinning around a vertical axis in the midline of the body).
    • Children with autistic disorder also often display motor tics and are unable to remain still. Because children with autistic disorder are often mentally retarded and nonverbal, expressing subjective experiences associated with the movement is often impossible for them. Because the verbalization of the subjective desire to be in motion is necessary for the diagnosis of akathisia, akathisia cannot be diagnosed in individuals without the ability to express those subjective experiences in words. The high activity level and apparent lack of ability to remain still, resembling akathisia, has been termed pseudoakathisia when the individual cannot verbally express a sensation of inner restlessness and an urge to move.
  • Head features
    • The head circumference is increased in a subgroup of children with autistic disorder without known comorbid conditions. Increased head circumference is more common in boys and is associated with poor adaptive behavior. The increase in head circumference becomes pronounced in the first few years of life. The head circumference may then return to normal in adolescence.
    • Aberrant palmar creases and other dermatoglyphic anomalies are more common in children with autistic disorder.
  • Rating procedures
    • Patients with autistic disorder merit a careful assessment of movements (see Body movement).
    • The caregiver and clinicians may be asked to look for any motions in the mouth, face, hands, or feet of the patient and, if so, may be asked to describe them and how they bother the patient. The patient may be asked to sit on the chair with legs slightly apart, feet flat on the floor, and hands hanging supported between the legs or hanging over the knees. The patient may be asked to open his or her mouth and then twice to stick out the tongue. If the subject does not perform the requested action, the examiner then repeatedly performs the actions in the direct view of the subject to demonstrate the desired actions. For additional information about the rating of movement disorders, please see Tardive Dyskinesia.
    • The patient may be asked to sit, stand, and lie on a sheet on the floor for 2 minutes in each position. The patient is asked to remain motionless in each posture. In each position, the patient is asked, "Do you have a sensation of inner restlessness?" and "Do you have the urge to move?" These questions require an appropriate developmental level for a useful response. Therefore, most children with autism cannot respond appropriately. In the absence of a clear verbal response, the subjective items are not rated. Nevertheless, the objective behavior of the child can be observed and rated. For additional information about the rating of movement disorders, please see Tardive Dyskinesia.
    • Because the verbalization of inner restlessness and an urge to move are required for the diagnosis of akathisia, the observation of the movements typical of akathisia in an individual who does not verbalize the subjective experience of akathisia merits the diagnosis of pseudoakathisia or probable objective akathisia. For additional information about the rating of movement disorders, please see Tardive Dyskinesia.
  • Assessing stereotypies
    • Movements observed in individuals with autistic disorder are frequently classified as stereotypies (eg, purposeless, repetitive, patterned motions, postures, and sounds). Stereotypies are divided into the following 3 topological classes:
      1. Oro-facial (eg, tongue, mouth, and facial movements; smelling; sniffing; and other sounds)
      2. Extremity (eg, hand, finger, toe, leg)
      3. Head and trunk (eg, rolling, tilting, or banging of the head; rocking the body)
    • Stereotypies occur in nonautistic infants and children with mental retardation. Regularly assessing stereotypies is a valuable practice because stereotypies may bother other people and interfere with performance at school, work, and home. Routine assessment of stereotypies before, during, and after treatment is valuable in determining the effects of interventions.
    • Stereotypies are assessed for clinical purposes through regular use of the Timed Stereotypies Rating Scale. For this procedure, the occurrence of stereotypies is noted during 30-second intervals over a 10-minute duration. For additional information about the rating of stereotypies, please see Tardive Dyskinesia.
  • Self-injurious behaviors
    • A particularly serious form of stereotypy is self-injurious behavior. Self-injury may take the form of skin picking; self-biting; head punching and slapping; head-to-object and body-to-object banging; body punching and slapping; poking the eye, the anus, and other body parts; lip chewing; removal of hair and nails; and teeth banging.
    • Self-injury can result in morbidity and mortality. For example, eye poking and head banging may cause retinal detachments resulting in blindness. Although only a minority of the population of children with autism manifest self-injury, they constitute some of the most challenging patients in developmental pediatrics.
  • Clinical examples
    • A 6-year-old boy with autistic disorder who is treated with 75 mg clomipramine (Anafranil) by mouth daily at bedtime exhibits nonstop stereotypies. He frequently peers out of the corner of his eye, tilting his head. He often twiddles his fingers, moving an action figure in a nonfunctional manner. He occasionally grimaces. He repeatedly touches the slits of the blinds at the corner of the window. He rubs his fingers on the blinds, the cabinet drawer, and the chair. At 8:30 pm he rocks briefly and utters indeterminable vocalizations. He may be falling asleep.
    • A 7-year-old boy with autistic disorder took daily vitamins and no other medications at the time of assessment. The examiner repeated movements of the telephone receiver and tapping on the telephone receiver initially exhibited by the subject. The examiner repeated the subject's actions several times in an attempt to elicit repetition of the movement by the subject. Instead, the subject does not acknowledge the presence of the examiner. The subject spins by rotating on a central vertical axis in his body. He exhibits nonfunctional play with the telephone. He displays frequent finger wiggling and the other hand stereotypies. He frequently vocalizes indecipherable sounds and rocks briefly (see Media file 4).

      This feature requires the newest version of Flash. You can download it here.

      A 7-year-old boy with autistic disorder took daily vitamins and no other medications at the time of assessment. The examiner repeated movements of the telephone receiver and tapping on the telephone receiver initially exhibited by the subject. The examiner repeated the subject's actions several times in an attempt to elicit repetition of the movement by the subject. Instead, the subject does not acknowledge the presence of the examiner. He looks away from the examiner. He turns his back to the examiner. The subject spins by rotating on a central vertical axis in his body. He exhibits nonfunctional play with the telephone. He displays frequent finger wiggling and the other hand stereotypies. He frequently vocalizes indecipherable sounds and briefly rocks. He tilts his head and looks out of the corner of his eye for a few seconds.

      [ CLOSE WINDOW ]
      A 7-year-old boy with autistic disorder took dail...

      A 7-year-old boy with autistic disorder took daily vitamins and no other medications at the time of assessment. The examiner repeated movements of the telephone receiver and tapping on the telephone receiver initially exhibited by the subject. The examiner repeated the subject's actions several times in an attempt to elicit repetition of the movement by the subject. Instead, the subject does not acknowledge the presence of the examiner. He looks away from the examiner. He turns his back to the examiner. The subject spins by rotating on a central vertical axis in his body. He exhibits nonfunctional play with the telephone. He displays frequent finger wiggling and the other hand stereotypies. He frequently vocalizes indecipherable sounds and briefly rocks. He tilts his head and looks out of the corner of his eye for a few seconds.

    • The examiner may attempt to establish a sequence of taking turns hitting a plate with a block. The examiner says, "My turn," and then taps the plate. The examiner gives the block to the subject and says, "Your turn." The subject may be physically assisted in the activity if the desired response does not occur. The following is a clinical example: A 7-year-old boy with autistic disorder took daily vitamins and no other medications at the time of assessment. The examiner attempted to elicit turn-taking by hitting the plate with a block. The child repeatedly jumps and rotates. He exhibits nonfunctional play with the telephone. He tilts his head and peers out of the corner of his eye. He is interested in the feel of the stick. He exhibits quick hand movements with small toys (see Media file 5).

      This feature requires the newest version of Flash. You can download it here.

      The examiner may attempt to establish a sequence of taking turns hitting a plate with a block. The examiner says, "My turn," and then taps the plate. The examiner gives the block to the subject and says, "Your turn." The subject may be physically assisted in the activity if the desired response does not occur.

      The following is a clinical example: A 7-year-old boy with autistic disorder took daily vitamins and no other medications at the time of assessment. The examiner attempted to elicit turn-taking by hitting the plate with a block. The child repeatedly jumps and rotates. He exhibits nonfunctional play with the telephone. He tilts his head and peers out of the corner of his eye. He is interested in the feel of the stick. He exhibits quick hand movements with small toys.

      When his father and his brother leave the room, the child does not acknowledge their departure. When his father returns to the room, he does not run to greet him. He appears indifferent to the departure and the return of his father. He repeatedly touches the surface of the wooden block. He touches the surface of a furlike cloth. He also places this cloth to his mouth to feel the texture on his lips. He is also fascinated with a string of yarn. He moves the string of yarn up and down and back and forth. This is nonfunctional play with ordinary items.

      [ CLOSE WINDOW ]
      The examiner may attempt to establish a sequence ...

      The examiner may attempt to establish a sequence of taking turns hitting a plate with a block. The examiner says, "My turn," and then taps the plate. The examiner gives the block to the subject and says, "Your turn." The subject may be physically assisted in the activity if the desired response does not occur.

      The following is a clinical example: A 7-year-old boy with autistic disorder took daily vitamins and no other medications at the time of assessment. The examiner attempted to elicit turn-taking by hitting the plate with a block. The child repeatedly jumps and rotates. He exhibits nonfunctional play with the telephone. He tilts his head and peers out of the corner of his eye. He is interested in the feel of the stick. He exhibits quick hand movements with small toys.

      When his father and his brother leave the room, the child does not acknowledge their departure. When his father returns to the room, he does not run to greet him. He appears indifferent to the departure and the return of his father. He repeatedly touches the surface of the wooden block. He touches the surface of a furlike cloth. He also places this cloth to his mouth to feel the texture on his lips. He is also fascinated with a string of yarn. He moves the string of yarn up and down and back and forth. This is nonfunctional play with ordinary items.

Causes

Decades ago, researchers conjectured that infantile autism resulted from rejection of the infant by cold parents ("refrigerator mothers") who were blamed for the occurrence of the social deviations of their young children. Careful family studies have disproved the hypothesis that the development of autistic disorder in children is due to faulty parenting. Communicating repeatedly to the parents of the autistic child that they are not responsible is important. For additional information for parents and people with autism and related conditions, please visit the Autism Society of America.

The causes of autistic disorder are unknown. Hypotheses include obstetric complications, infection, genetics, and toxic exposures.

  • Obstetric complications are associated with an increased risk of autistic disorder. Whether obstetric complications caused autistic disorder or whether autism and obstetric complications resulted from another problem is unclear.
  • An infectious basis for autistic disorder in some individuals is suggested by the large number of children with autistic disorder born to women who were infected in the rubella epidemic. This finding supports the hypothesis that this infection triggers a vulnerability to develop autistic disorder in the fetus.
  • A genetic contribution to the development of autism has been hypothesized.
    • Multiple family studies have suggested genetic components to many cases of autism. For example, many studies have demonstrated that some asymptomatic first-degree relatives of some probands with autism have abnormalities in serotonin and other chemicals similar to the probands with autism. However, a particular individual with autistic disorder may not exhibit familial traits seen in populations.
    • Finding genetic bases for autism is a promising research goal. However, the clinical usefulness of the assessment of families of individuals with autism has not been established.
  • Toxic exposures have been hypothesized to cause autism.
    • Exposures to toxins, chemicals, poisons, and other substances have been hypothesized to cause autism. Although anecdotal case reports suggest that exposures to toxins and other substances may play a role in isolated cases of autistic disorder, a causative role for toxins in the development of autism in general has not been demonstrated. Local regions may have toxic exposures that exert a geographical influence. For example, the high incidence of autism in portions of Japan has been hypothesized to be due to a toxic effect of fish. Although toxins may play a role in the development of isolated cases of autism in Japan, toxins have not been proved to be causative of autism in Japan in general. Another possible explanation for the high rates of autism in Japan is the excellent training of Japanese clinicians. Low rates of autism in countries outside Japan may reflect the limited abilities of clinicians to make the diagnosis of autism.
    • In particular, the development of autism after immunization to measles, mumps, and rubella led to the hypothesis that autism was caused by immunization. Careful research has not demonstrated an association between immunization for measles, mumps, and rubella and the subsequent development of autism and related conditions in the general population. General immunization for measles, mumps, and rubella is recommended. Immunization for the general population is highly recommended. The rate of autism in children who receive immunizations does not appear to be increased.

More on Autism

Overview: Autism
Differential Diagnoses & Workup: Autism
Treatment & Medication: Autism
Follow-up: Autism
Multimedia: Autism
References
Further Reading
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Further Reading

Recommended readings for parents include the following:

  • Baron-Cohen S, Howlin P. Teaching Children with Autism to Mind-read: a Practical Guide for Teachers and Parents. New York, NY: Wiley; 1998.
  • Cohen S. Targeting Autism. Berkeley, CA: University of California Press; 1998.
  • Hart CA. A Parent's Guide to Autism. New York, NY: Pocket Books; 1993.
  • Hollander E. Autism Spectrum Disorders. Volume 24 of the Medical Psychiatry Series. New York, NY: Marcel Dekker; 2003.
  • Lovaas I. The Autistic Child: Language Development through Behavior Modification. New York, NY: Irvington Press; 1977.
  • Powers M. Children with Autism: A Parents' Guide. Bethesda, Md: Woodbine House; 2000.
  • Quill K. Teaching Children with Autism: Strategies to Enhance Communication and Socialization. Albany, NY: Delmar Publishers; 1995.
  • Wing L. The Autistic Spectrum: A Parent's Guide to Understanding and Helping Your Child. London, England: Ulysses Press; 2001.

Key general references include the following:

  • Bettelheim B. The Empty Fortress: Infantile Autism and the Birth of the Self. New York, NY: The Free Press; 1977.
  • Cohen DJ, Volkmar FR. Handbook of Autism and Pervasive Developmental Disorders. New York, NY: Wiley; 1996.
  • DeMyer MK. Parents and Children in Autism. Washington, DC: Winston; 1979.
  • Filipek PA, Accardo PJ, Ashwal SL. Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society. Neurology. 2000 August 22;55(4):468-479.
  • Gillberg C, Coleman M. The Biology of the Autistic Syndromes, 3rd ed. London, England: Mac Keith Press. Clinics in Developmental Medicine Number 153/4; 2000.
  • Harris JC. Developmental Neuropsychiatry: Fundamentals. Vol 1. Oxford, England: Oxford University Press; 1995.
  • Harris JC. Developmental Neuropsychiatry: Assessment, Diagnosis, and Treatment. Vol 2. Oxford, England: Oxford University Press; 1995.
  • Hollander E. Autism Spectrum Disorders. Volume 24 of the Medical Psychiatry Series. New York, NY: Marcel Dekker; 2003.
  • Klin A, Volkmar FR, Sparrow SS. Asperger Syndrome. New York, NY: Guilford Publications, Inc; 2000.
  • Lovaas OI. Behavioral treatment and normal educational and intellectual functioning in young autistic children. J Consult Clin Psychol. 1987 Feb;55(1):3-9.
  • Schreibman L. Diagnostic features of autism. J Child Neurol. 1988;3(suppl)l:S57-S64.

Additional resources on autism are available at Medscape's Autism Spectrum Disorders Resource Center.

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Keywords

autism, autistic disorder, infantile autism, Kanner syndrome, Kanner's syndrome, movement abnormalities, motion anomalies, communication abnormalities, social interaction abnormalities, mental retardation, autism spectrum disorder, unspecified pervasive developmental disorder, autistic spectrum disorder, rubella, measles, mumps, Rett syndrome, Asperger syndrome, childhood disintegration disorder, Sydenham chorea, akathisia, pseudoakathisia

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Contributor Information and Disclosures

Author

James Robert Brasic, MD, MPH, Research Associate, Division of Nuclear Medicine, Russell H Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine
James Robert Brasic, MD, MPH is a member of the following medical societies: American Academy of Child and Adolescent Psychiatry, American Academy of Neurology, and Movement Disorders Society
Disclosure: Taylor and Francis Royalty Independent contractor; Wolters Kluver/Lippincott Williams & Wilkins Royalty Independent contractor

Medical Editor

Carol Diane Berkowitz, MD, Executive Vice Chair, Department of Pediatrics, Professor, Harbor-University of California at Los Angeles Medical Center
Carol Diane Berkowitz, MD is a member of the following medical societies: Alpha Omega Alpha, Ambulatory Pediatric Association, American Academy of Pediatrics, American College of Emergency Physicians, American Medical Association, American Pediatric Society, and North American Society for Pediatric and Adolescent Gynecology
Disclosure: Nothing to disclose.

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Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
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CME Editor

Carrie Sylvester, MD, MPH, Director of Education in Child and Adolescent Psychiatry, Professor, Departments of Psychiatry and Pediatrics, Northwestern University Medical School
Carrie Sylvester, MD, MPH is a member of the following medical societies: American Academy of Child and Adolescent Psychiatry, American Academy of Pediatrics, American Medical Women's Association, American Psychiatric Association, and American Society for Adolescent Psychiatry
Disclosure: Nothing to disclose.

Chief Editor

Caroly Pataki, MD, Professor of Clinical Psychiatry and Behavioral Sciences, Department of Psychiatry, Division Chair, Child and Adolescent Psychiatry, Director of Training, Child and Adolescent Psychiatry Residency Program, University of Southern California Keck School of Medicine
Caroly Pataki, MD is a member of the following medical societies: American Academy of Child and Adolescent Psychiatry, New York Academy of Sciences, and Physicians for Social Responsibility
Disclosure: Nothing to disclose.

 
 
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