Asperger Syndrome Clinical Presentation

Updated: Mar 26, 2014
  • Author: James Robert Brasic, MD, MPH; Chief Editor: Caroly Pataki, MD  more...
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Presentation

History

Parents should be interviewed about prenatal history and maternal health factors that may have affected the pregnancy. The clinician should conduct a thorough evaluation of social behaviors, language, interests, routines, physical coordination, and sensory sensitivity, starting from birth. The history is likely to elicit the following:

  • Social problems
  • Communication abnormalities
  • Speech and hearing abnormalities
  • Sensory sensitivity

Social problems

Children with Asperger syndrome may have difficulties with peer relations and may be rejected by other children. Adolescents with the syndrome commonly experience depression and loneliness. [19]

Outside the realm of immediate family members, an affected child may exhibit inappropriate attempts to initiate social interaction and to make friends. Whereas children with Asperger syndrome may have great anxiety about demonstrating genuine desires for friendship to peers, they may be taught by family members to express their love for their parents through multiple rehearsals over the years.

Alternatively, an affected child may not display affection to parents or other family members. A lack of bonding and warmth with parents and other guardians may seem apparent, typically resulting from the child’s lack of social skills.

Children with Asperger syndrome exhibit peculiar and narrow interests, excluding other activities. These interests may take precedence over their relationships with their family, school, and community.

Separations from parents because of work and divorce may be particularly stressful for these children. Changing homes, communities, and neighborhoods may also exacerbate anxiety, depression, and other psychological disturbances.

Individuals with Asperger syndrome may have particular difficulty with dating and marriage. Adolescents and men with Asperger syndrome may decide to marry suddenly, without the dating and courtship that typically precede a union. They may be unaware that friendship often precedes courtship and engagement; indeed, they may even approach strangers to propose marriage.

People with Asperger syndrome may appear aloof and uninterested in other people, in most cases probably as a result of perplexity about how to communicate appropriately with others. Individuals with this condition often find it difficult to interpret the responses of others and may find it equally challenging to determine how to make their own optimal responses in particular social situations.

Socially inappropriate behavior and failure to understand social cues may be reported. A child may not understand why people become upset when he or she breaks social rules. An adult may lose employment because his or her impaired comprehension of social norms leads to poor judgment in worksite behavior (eg, speaking inappropriately to colleagues, bosses, or administrators).

Communication abnormalities

Use of gestures is frequently limited in people with Asperger syndrome, and body language or nonverbal communication may be awkward and inappropriate. Facial expressions may be absent or inappropriate. Pragmatic errors are commonly produced by children with Asperger syndrome in response to questions. These children often produce irrelevant responses. [28]

Speech and hearing abnormalities

Children affected by Asperger syndrome demonstrate several abnormalities in speech and language, including pedantic speech and oddities in pitch, intonation, prosody, and rhythm. Miscomprehension of language nuance (eg, literal interpretations of figures of speech) is common.

Individuals often exhibit practical speech problems, including inability to use language in social contexts, insensitivity about interrupting others, and irrelevant commentary. Speech may be unusually formal or used in idiosyncratic ways that others do not understand. Individuals may vocalize their thoughts without censoring. Personal remarks inappropriate to most social environments may be uttered routinely.

The amount of speech may vary widely and may reflect the individual’s current emotional state more than the communication requirements of the social setting. Some individuals may be verbose, others taciturn. Furthermore, the same individual may demonstrate both verbosity and taciturnity at different times.

Some individuals may display selective mutism, speaking not at all to most people and excessively to specific people. Some may choose to talk only to people they like. Thus, speech may reflect the individual’s idiosyncratic interests and preferences.

The form of language chosen may include metaphors that are meaningful only to the speaker. The message meant by the speaker may not be understood by those who hear it, or the message may be meaningful only to a few people who understand the speaker’s private language.

Children often exhibit auditory discrimination and distortion, particularly when encountering 2 or more people speaking simultaneously.

Sensory sensitivity

Children with Asperger syndrome may show abnormal sensitivity to sound, touch, taste, sight, smell, pain, and temperature. For example, they may demonstrate either extreme or diminished sensitivity to pain. They may be particularly sensitive to the texture of foods. Children may also exhibit synesthesia, including a sensory response to an environmental stimulus in a different sensory modality.

Next:

Physical Examination

Typical physical findings in children with Asperger syndrome may include the following:

  • Lax joints (eg, an immature or unusual grasp for handwriting and other fine hand movements)
  • Clumsiness
  • Anomalies of locomotion, balance, manual dexterity, handwriting, rapid movements, rhythm, and imitation of movements
  • Impaired ball-playing skills

Screening

Only limited screening tools are available for Asperger syndrome, and no recommendations for universal screening have been formulated. [29] Nevertheless, early identification is crucial for intervention, and screening of children during healthcare maintenance visits is done in many clinics.

The American Academy of Pediatrics (AAP) recommends developmental surveillance for all children at 9, 18, and 24 or 30 months at preventive visits and additional screening for Asperger syndrome if any developmental concerns arise. An autism spectrum disorder (ASD)-specific tool should be used at 18 and 24 months. [8]

Of the tools designed for screening the elementary school–aged population, the Childhood Asperger Syndrome Test (CAST) for children aged 5-11 years has demonstrated good accuracy for use in large epidemiologic studies. [30, 31] At present, however, the evidence is insufficient to recommend it for routine screening. In addition, the AAP does not currently recommend universal screening of school-aged children with an ASD-specific tool. [32]

Screening for theory of mind

A theory of mind can be thought of as the ability to understand the mental processes of oneself and others, which allows one to predict other people’s responses to common situations. Accordingly, the lack of this understanding in a person with Asperger syndrome is termed a deficiency in the formation of a theory of mind. [33, 34, 35, 36, 37] Some people with Asperger syndrome appear never to develop a theory of mind. [38]

In children with possible developmental issues, screening for a theory of mind is an important process that a clinician can use to identify some of the core behavioral symptoms of Asperger syndrome. Typical children show evidence of having a theory of the mind before beginning school. Thus, inability of a school-aged child to perform any of the theory of mind screening procedures correctly suggests the need to refer the child for additional evaluation.

Screening for a theory of mind has 2 main components, a doll-play paradigm and an imagination task. It can be performed in offices and other everyday settings and takes only a few minutes. [39]

Doll-play paradigm

For the doll-play paradigm, the clinician and the patient are seated at opposite ends of a table. The clinician shows the patient 2 dolls and names them by saying, “This is Sally. This is Anne.” [40]

The doll-play paradigm involves 2 procedures. In the first, the clinician describes and shows Sally placing a marble in a basket, then removes Sally from the room and closes the door, leaving her outside. Next, the clinician describes and shows Anne removing the marble from the basket and placing it in a box. Finally, the clinician brings Sally back into the room and asks the patient, “Where will Sally look for the marble?”

An individual with a theory of mind will respond that Sally will look for the marble in the basket where she placed it before leaving the room. If this response is elicited, the child passes the doll-play paradigm, and the clinician may then proceed to the imagination task.

A response that Sally will look for the marble in the box signals that the child lacks a theory of mind. Such a response indicates that the patient cannot distinguish Sally’s mind from his or her own and thus does not recognize that Sally was absent and could not have known that the marble was moved from the basket into the box. The child assumes that because he or she knows that the marble is in the box, Sally must also know this.

If the patient does not reply that Sally will look for the marble in the basket, the clinician proceeds with questions to clarify the patient’s understanding of the situation. The clinician asks the patient, “Where is the marble, really?” Both typical and atypical patients usually state that the marble is in the box. The clinician then asks, “Where was the marble in the beginning?” Both typical and atypical patients usually state that the marble was originally in the basket.

In the second procedure, the clinician describes and shows Sally placing a marble in a basket, then removes Sally from the room and closes the door, leaving Sally outside. Next, the clinician describes and shows Anne removing the marble from the basket and placing it in the clinician’s pocket. Finally, the clinician brings Sally back into the room and asks the patient, “Where will Sally look for the marble?”

Typical patients with a theory of mind respond that Sally will look in the basket because that is where Sally last placed the marble. If this response is elicited, the patient passes the doll-play paradigm, and the clinician may proceed to the imagination task. If not, the clinician then asks the patient, “Where is the marble, really?” and “Where was the marble in the beginning?” to confirm the patient’s understanding of the situation.

Imagination task

The imagination task includes 3 parts. In the first, the clinician tells the patient, “Now, I want you to close your eyes and think about a big white teddy bear. Make a picture in your head of a big white teddy bear. Can you see the white teddy?”

A typical patient will report visualizing the image of a big white teddy bear. If the patient does not report visualizing this image, the clinician asks, “What can you see when you close your eyes?” If the patient reports any mental image, the clinician asks, “What are you thinking of?” A typical patient will readily report the visualization of a big white teddy bear. [41]

The next part of the task is a repetition of the first part, with the substitution of a big red balloon for the white teddy bear. A typical patient will readily report the visualization of a big red balloon.

In the third part of the imagination task, the clinician asks the patient to identify the first picture visualized during the task. A typical patient will readily report first imagining a big white teddy bear. Ability to remember an earlier mental image is evidence of a theory of mind; thus, inability to recognize one’s own prior mental images suggests the lack of a theory of mind. Accordingly, if the patient reports that a big red balloon was the first item imagined, this is evidence of a theory-of-mind deficit.

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