Asperger Syndrome

Welcome to PT 635 Pathophysiology of Complex Patient Problems This is a wiki created by and for the students in the School of Physical Therapy at Bellarmine University in Louisville KY. Please do not edit unless you are involved in this project, but please come back in the near future to check out new information!!

Original Editors - Brittany Smithson from Bellarmine University's Pathophysiology of Complex Patient Problems project.

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Definition

DSM-IV-TR definition of Asperger Syndrome (called “Asperger Disorder”) (APA, 1994)

A. Qualitative impairment in social interaction, as manifested by at least two of the following:

1. marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction

2. failure to develop peer relationships appropriate to developmental level
3. a lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by a lack of showing, bringing, or pointing out objects of interest to other people.
4. lack of social or emotional reciprocity

B. Restricted repetitive and stereotyped patterns of behavior, interests and activities, as manifested by at least one of the following:
1. encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus
2. apparently inflexible adherence to specific, nonfunctional routines or rituals
3. stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements)
4. persistent preoccupation with parts or objects

C. The disturbance causes clinically significant impairment in social, occupational, or other important areas of functioning.

D. There is no clinically significant general delay in language (e.g. single words used by age 2 years, communicative phrases used by age 3 years).

E. There is no clinically significant delay in cognitive development or in the development of age-appropriate self-help skills, adaptive behavior (other than in social interaction), and curiosity about the environment in childhood.

F. Criteria are not met for another specific Pervasive Developmental Disorder or Schizophrenia

Prevalence

• The incidence of AS is not well established, but experts in population studies conservatively estimate that two to six out of every 1,000 children have the disorder. Boys are three to four times more likely than girls to have AS.
  
• Asperger Syndrome affects about 1 in 200 people, more commonly in men than women.
• 2 per 10,000 children with Autism Spectrum Disorders have Asperger Syndrome
  
  

Characteristics/Clinical Presentation

• Childhood onset

• Limited social relationships – social isolation

o Few/no sustained relationships; relationships that vary from too distant to too intense
o Awkward interaction with peers
o Unusual egocentricity, with little concern for others or awareness of their viewpoint; little empathy or sensitivity
o Lack of awareness of social rules; social blunders

• Problems in communication

o An odd voice, monotonous, perhaps at an unusual volume
o Talking ‘at’ (rather than ‘to’) others, with little concern about their response. Superficially good language but too formal/stilted/pedantic; difficulty in catching any meaning other than the literal
o Lack of non-verbal communicative behaviour: a wooden, impassive appearance with few gestures; a poorly coordinated gaze that may avoid the other’s eyes or look through them
o An awkward or odd posture and body language

• Absorbing and narrow interests

o Obsessively pursued interests
o Very circumscribed interests that contribute little to a wider life, e.g. collecting facts and figures of little practical or social value
o Unusual routines or rituals; change is often upsetting

Associated Co-morbidities

• Schizophrenia
• Affective disorders
• Obsessive Compulsive Disorder
• ADHD
• Alcoholism
• Offending
  
  

Medications

In general, pharmacological interventions with young children are probably best avoided. Specific medication might be indicated if AS is accompanied by debilitating depressive symptoms, severe obsessions and compulsions, or a thought disorder. It is important for parents to know that medications are prescribed for the treatment of specific symptoms, and not to treat the disorder as a whole.

Diagnostic Tests/Lab Tests/Lab Values

Some clinicians do not recognize AS as a separate disorder from autism, instead they refer to it as high-functioning autism (HFA). These doctors put it on the mild end of the Autism Scale. This has made collecting data on diagnoses difficult as they use the terms AS and HFA interchangeably.

Key behavioral features doctors are looking for:
• abnormal eye contact
• aloofness
• the failure to turn when called by name
• the failure to use gestures to point or show
• a lack of interactive play
• a lack of interest in peers

Diagnoses of AS takes two steps, the first step is during a screening performed by the family doctor of pediatrician. If problems are noted the child then moves onto the second step which is a comprehensive team evaluation to determine if the child has AS. The team normally is made up of a psychologist, neurologist, psychiatrist, speech therapist, and additional professionals who have expertise in diagnosing children with AS.

AS must be diagnosed by trained and experienced providers due to the complex diagnostic process and to determine the variety, intensity, and comprehensiveness of services required. The American Academy of Child and Adolescent Psychiatry published practice parameters for the assessment of individuals with AD and PDD.

It is difficult to accurately diagnose an individual with AS due to the complexity of the syndrome and the overlap of symptoms into other syndromes like Autism. AS is defined using the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV) which is listed above. It is categorized as a Pervasive developmental disorder (PDD); other PDD include Rett syndrome, childhood disintegrative disorder, and Autism. It is also important to note that in order to be diagnosed as AS an individual cannot have any clinically significant delays in language or a lack of any clinically significant delay in cognitive development, including development of age-appropriate self-help skills.

Etiology/Causes

The exact cause of As has yet to be established, however researchers have found that brain abnormalities contribute to the cause of AS. Scientists attribute these abnormalities to abnormal migration of embryonic cells during fetal development. The abnormal cell growth goes on to change the structure of the brain and affects the neural circuits that control thought and behavior.

There is believed to be a genetic component to AS due to the high tendency of the diseases in families. For example identical twins are more likely to both develop AS than fraternal twins. Scientists have yet to identify a specific gene to causes AS. Most recent research indicates that there are common group of gene that variation or deletions make an individual more likely to develop AS.

Systemic Involvement

Children with AS have impaired detoxification capacity and may suffer from chronic oxidative stress.

They may also experience cardiac problems, including dilatation of the right cardiac ventricle and hypertrophy of the left ventricle with mitral insufficiency

Medical Management (current best evidence)

A large part of the medical treatment for individuals with AS is phsycological interventions. One type of treatment done in this field is Cognitive Behavoral Therapy (CBT) intervention in reducing anxiety while increasing Theory of Mind (ToM) skills. In one research study participants who underwent CBT showed multiple trends in anxiety reduction, with significant decreases in both panic disorder as noted in participants’ self-reports and in generalized anxiety as noted in parents’ reports of their children’s anxiety. Data demonstrated changes in anxiety, which varied according to the participant’s motivation to change, participation in sessions, and application of strategies outside the counselling sessions.

For individuals with AS it is common to have comorbidities, and treatment is often focused around those comorbidities. An example of this is the treatment of ADHD with Ritalin (methylphenidate). Research has shown that functional magnetic resonance imaging, a reduction of cerebral activity bilaterally in the parietal lobe under the influence of Ritalin is detected. These findings prove that medications can help with the complexity that surround individuals with AS and their comorbidities.

Physical Therapy Management (current best evidence)

Children with AS have difficulty with their visual sensitivity to human movement and postural responsibility to optic flow. This correlates directly with their lack of certain motor skills such as difficulties with perception and production of movement and dysfunctional perceptual motor linkages in these children.

Alternative/Holistic Management (current best evidence)

A review of the literature on the treatment of Asperger's Syndrome reveals that effective methods include individual psychotherapy, social skills training, behavior modification (points, rewards, levels, etc.), parent education, sensory integration training, and educational interventions.

Children with ASD, including AS, have been shown to in prove function through horseback riding or Hippotherapy. Children who participated in Hippotherapy exhibited greater sensory seeking, sensory sensitivity, social motivation, and less inattention, distractibility, and sedentary behaviors. Research shows that Hippotherapy can be a viable treatment option in children with ASD and AS.

Children with ASD and AS who participate in water exercise swimming program have shown improvements in aquatic skills, as wells as an improvement in social skills. The key importance of these findings for children with AS is the potential it hold for social improvement and sensory integration.

Differential Diagnosis

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Case Reports/ Case Studies

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Resources

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http://www.aspergersyndrome.org/

http://www.autism-society.org/

http://www.autismspeaks.org/

http://www.youtube.com/watch?v=WAfWfsop1e0

Recent Related Research (from Pubmed)

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References

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