Autism Clinical Presentation

  • Author: James Robert Brasic, MD, MPH; Chief Editor: Caroly Pataki, MD   more...
 
Updated: May 24, 2012
 

History

Children and adolescents with autism spectrum disorders are likely to be referred to primary care practitioners for academic, behavioral, and social issues.[58] For this reason, primary care providers can benefit from the consideration of autism spectrum disorders in the differential diagnoses of children and adolescents with educational, occupational, and social difficulties.

Behavioral and developmental features that suggest autism include the following:

  • Developmental regression
  • Absence of protodeclarative pointing
  • Abnormal reactions to environmental stimuli
  • Abnormal social interactions
  • Absence of symbolic play
  • Improvement during fever

Developmental regression

From 13-48% of people with autism have apparently normal development until 15-30 months of age, when they lose verbal and nonverbal communication skills. These individuals may have an innate vulnerability to develop autism. This regression may be precipitated by a precipitant such as immune and toxic exposures.

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.[59, 60]

The presence of protodeclarative pointing can be assessed by interview of the parent or caregiver. Screening questions include "Does your child ever use his or her index finger to point, to indicate interest in something?" A negative response to this question suggests the need for a specialized assessment for possible pervasive developmental disorder.

Environmental stimuli

In contrast to toddlers with delayed and normal development, toddlers with autism spectrum disorders are much more interested in geometric patterns. Toddlers who prefer dynamic geometric patterns to participating in physical activities such as dance merit referral for evaluation for possible autism spectrum disorders.[61]

Parents of autistic children report unusual responses to environmental stimuli, including excessive reaction or an unexpected lack of reaction to sensory input. Certain sounds (eg, vacuum cleaners or motorcycles) may elicit incessant screaming. Playing a radio, phonograph, or television at a loud level may appear to produce hyperacusis, 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

Individuals with autism may display a lack of appropriate interaction with family members. The video files below illustrate the apparent indifference of a boy with autistic disorder to the departure and return of his father and his brother.[62]

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.
The following is a clinical example that continues the segment of prior video: 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.

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 considered child oriented. Although children with autistic disorder may want to have friendships with other children, their actions may actually drive away other children.

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 often report that they need to ask the child if something is wrong when the child's mood changes, and may need to examine the child's body to detect injury.

Isolation likely increases in adolescence and young adulthood. In the preceding year, the majority of a representative sample of 725 youths with autism had not gotten together with friends and had not talked to a friend on the telephone.[63]

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 have demonstrated that the absence of symbolic play in infants and toddlers is highly predictive of the later diagnosis of autism.[59, 60] 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 the video files below.[62]

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. 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.
The following is a clinical example that continues the segment of prior video: 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 objects or dropping objects from a particular height.

Children may be fascinated with items that are not typical toys, such as pieces of string. They may enjoy hoarding rubber bands, paper clips, and pieces of paper. They may spend hours watching traffic lights, fans, and running water. Some parents report that they must lock the bathroom door to prevent the child from flushing the toilet all day long.

Response to febrile illnesses

During a febrile illness, children with autistic disorder may show a decrease in behavioral abnormalities that plague the parents when the child is well (eg, self-injurious behaviors, aggression toward others, property destruction, temper tantrums, hyperactivity). A parent may say, "When he is suddenly an angel, I know that he has an ear infection."

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 problematic behaviors.

Autism screening checklist

Having parents fill out an Autism Screening Checklist can identify children who merit further assessment for possible autism. See the image below for a printable version of the checklist.

Autism screening checklist. Autism screening checklist.

The significance of answers to individual Autism Screening Checklist items is as follows:

  • Item 1- A "yes" occurs in healthy children and children with some pervasive developmental disorders; a "no" occurs in children with autism, Rett syndrome, and other developmental disorders
  • Item 2 - A "yes" occurs in healthy children, not children with autism
  • Item 3 - A "yes" occurs in healthy children and children with Asperger syndrome (ie, high-functioning autism); a "no" occurs in children with Rett syndrome; children with autism may elicit a “yes” or a "no"; some children with autism never speak; some children with autism may develop speech normally and then experience a regression with the loss of speech
  • Item 4 - A "yes" occurs in healthy children and children with Asperger syndrome and some other pervasive developmental disorders; a "no" occurs in children with developmental disorders; children with autism may elicit a "yes" or a "no"
  • Items 5-10 - Scores of "yes" occur in some children with autism and in children with other disorders
  • Item 11 – A "yes" occurs in healthy children; a "no" occurs in some children with autism and in children with other disorders
  • Items 12, 13 - Scores of "yes" occur in some children with autism and in children with other disorders
  • Items 14-19 - Scores of "yes" occur in children with schizophrenia and other disorders, not in children with autism, Asperger syndrome, or other autism spectrum disorders

The higher the total score for items 5-10, 12, and 13 on the Autism Screening Checklist, the more likely the presence of an autism spectrum disorder.

Next

Physical Examination

Screening well babies for signs predictive of autistic disorder is important. Baron-Cohen and colleagues 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.[59, 60] Baron-Cohen and colleagues developed a set of valid and reliable tools to screen for autism spectrum disorders over the lifespan,[64] including the Quantitative Checklist for Autism in Toddlers (Q-CHAT) for newborns and toddlers,[59, 60, 65] and the Autism-Spectrum Quotient (AQ) for children,[66] adolescents,[67] and adults.[68] The possible cultural limitations of these tools in different ethnic groups in various geographical regions remains to be demonstrated.

Other make-believe play may be substituted based on cultural relevance. The child should respond appropriately to a pretend activity compared with most other children of the same culture.

The assessment of normal gaze monitoring, suggested by Baron-Cohen and colleagues, 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]!"[59, 60] 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.

Baron-Cohen and colleagues established the following protocol to assess for the presence of protodeclarative pointing: Say to the child, “Where's the light?” or, “Show me the light.” A normal response is for the child to point with his or her index finger at the light while looking up at the clinician's face.[59, 60] If the child does not respond appropriately, the procedure may be repeated with a teddy bear or any other unreachable object.

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. Thus, the diagnosis of akathisia cannot be applied in these cases, because this diagnosis requires the verbalization of a sensation of inner restlessness and an urge to move.

In the absence of the ability to verbally describe subjective experiences, the high activity level and apparent lack of ability to remain still, resembling akathisia, has been termed pseudoakathisia.

Head features

Although the head circumference of children with autism may be small at birth, many children with autism experience a rapid increase in the rate of growth from 6 months to 2 years of age.[69] The head circumference is increased in a subgroup of approximately one fifth of the population of children with autistic disorder without known comorbid conditions.[70] Increased head circumference is more common in boys and is associated with poor adaptive behavior. The head circumference may return to normal in adolescence.[71]

Hand features

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. 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, including the diagnosis of pseudoakathisia or probable objective akathisia, 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:

  • Oro-facial (eg, tongue, mouth, and facial movements; smelling; sniffing; and other sounds)
  • Extremity (eg, hand, finger, toe, leg)
  • 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 period. 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.

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.

Physical abuse

Children with autism and related conditions may persist incessantly with repetitive behaviors that annoy others, despite instructions to cease. Children with autism spectrum disorders typically do not respond to spanking and other forms of traditional discipline. Parents, teachers, and others may eventually lose control and inflict physical injury on the child.

For this reason, children with autism spectrum disorders are at high risk for physical abuse; in addition, when physical abuse occurs, these children may not report it. Therefore, pediatricians and other healthcare providers must maintain a high level of suspicion for the possibility of physical abuse when assessing children with autism spectrum disorders and conduct regular careful physical examinations.

Sexual abuse

Unlike many other children with mental retardation, children with autistic disorder are typically physically normal in appearance, without dysmorphic features. They may be beautiful children and, thus, may attract the interest of those who are sexually aroused by children. Children with autism spectrum disorders may lack ability to communicate inappropriate sexual contact to responsible authorities. Thus, parents, teachers, healthcare providers, and others must maintain a high level of suspicion for the possibility of sexual abuse when assessing children with autism spectrum disorders. On physical examination, external examination of genitalia is appropriate. If bruises and other evidence of trauma are present, then pelvic and rectal examinations may be indicated.

Examination of siblings

Siblings of children with autism are at risk to develop traits of autism and even a full-blown diagnosis of autism. A tenth of the siblings of children with autism meet the diagnostic criteria for an autism spectrum disorder. An additional fifth of siblings of children with autism have delayed development of language.[72]

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Contributor Information and Disclosures
Author

James Robert Brasic, MD, MPH  Assistant Professor, 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; National Alliance for Research on Schizophrenia and Depression Grant/research funds Other; National Institutes of Health Grant/research funds Other

Chief Editor

Caroly Pataki, MD  Professor of Clinical Psychiatry and Behavioral Sciences, Department of Psychiatry, Division Chair, Child and Adolescent Psychiatry, Keck School of Medicine of the University of Southern California

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.

Additional Contributors

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Acknowledgments

This research is supported by the Essel Foundation, the Brain and Behavior Research Foundation (NARSAD), the Tourette Syndrome Association Inc, the National Institutes of Health, the Department of Psychiatry of Bellevue Hospital Center, and the New York University School of Medicine. The cooperation of the Health and Hospitals Corporation of the City of New York is gratefully acknowledged.

The author also gratefully acknowledges the technical assistance in the preparation of the video portions of this article of the Digital Media Center at the Skirball Institute of Biomolecular Medicine at the New York University Medical Center.

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Autism screening checklist.
Serotonin syndrome checklist.
Clinicians are advised to videotape the process of verbally explaining the protocol and answering questions. Permission must be explicitly given to perform the procedure and cannot continue until the parents agree. Parents are asked to give permission to complete this protocol. The entire process is videotaped. In this segment, the mother of a healthy, normal control child gives informed consent to participate as a volunteer in a research study of autism. Occasionally, parents decline to give consent, and the procedure must cease. An earlier version of this videotape is in the New York University Medical Library, New York, New York.
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. 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.
The following is a clinical example that continues the segment of prior video: 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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