Original Editors - Tony Cummings and Brittany Smithson from Bellarmine University's Pathophysiology of Complex Patient Problems project.
- 1 Definition
- 2 Prevalence
- 3 Characteristics/Clinical Presentation
- 4 Associated Co-morbidities
- 5 Medications
- 6 Diagnostic Tests/Lab Tests/Lab Values
- 7 Etiology/Causes
- 8 Systemic Involvement
- 9 Medical Management (current best evidence)
- 10 Physical Therapy Management (current best evidence)
- 11 Social Interventions
- 12 Differential Diagnosis
- 13 Case Reports/ Case Studies
- 14 Resources
- 15 References
Asperger syndrome is now defned in ICD-10 as an autistic disorder in which there are abnormalities in reciprocal social interaction and in patterns of behaviour and interests, without clinically significant delay in spoken or receptive
language, or cognitive development. Asperger syndrome (AS) thus refers to a particular group of high-functioning
children who did not have delayed speech development, and need not have had developmental difficulties before 3
years (in contrast to the onset criterion for childhood autism).
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
- 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
- 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
- Affective disorders
- Obsessive Compulsive Disorder
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
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. 
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
• 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 or 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.
The exact cause of Asperger Syndrome has yet to be established, however researchers have found that brain abnormalities contribute to the development of AS. Scientists attribute these abnormalities to irregular 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 also 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 an individual is more likely to develop AS when a common group of genes is changed or deleted.
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 psychological interventions. One type of treatment done in this field is Cognitive Behavoral Therapy (CBT) intervention, which reduces anxiety while increasing Theory of Mind (ToM) skills. In one research study, participants who underwent CBT showed multiple trends in anxiety reduction as well as 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 using functional magnetic resonance imaging has shown a reduction of cerebral activity bilaterally in the parietal lobe under the influence of Ritalin. These findings prove that medications can help with the complexity that surrounds 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.
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 also been shown to improve 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.
Additionally, children with ASD and AS who participate in water exercise swimming programs 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 holds for social improvement and sensory integration.
- Other Pervasive Developmental Disorders
- Scizophrenia Spectrum Disorders
- Attention-Deficit Hyperactivity Disorder
- Obsessive Compulsive Disorder
- Affective Disorders
- Multiple Complex Developmental Disorder
Case Reports/ Case Studies
Mastering Social and Organization Goals: Strategy Use by Two Children with Asperger Syndrome during Cognitive Orientation to Daily Occupational Performance.
Asperger Syndrome with Highly Excepti onal Calendar Memory: A Case Report
Kathy J. Marshack: Life with a Partner or Spouse with Asperger Syndrome: Going Over the Edge? Practical Steps to Saving You and Your Relationship.
- [email protected] www.aspergesyndrome.org (accessed 26 March 2012.
- Gilchrist A, Green J, Cox A, et al. Development and Current Functioning in Adolescents with Asperger Syndrome: A Comparative Study. J. Child Psychol. Psychiat 2001;42(2):227-240.
- Youtube. Asperger's Syndrome Documentary. Accessed at http://www.youtube.com/watch?v=WAfWfsop1e0. Accessed on 1 April 2012.
- National Institute of Neurological Disorders and Stroke: Nation Health Institute. Asperger Syndrome Fact Sheet. http://www.ninds.nih.gov/disorders/asperger/detail_asperger.htm (accessed 28 March 2012)
- Asperger's Syndrome Foundation. What is Asperger’s Syndrome? http://www.aspergerfoundation.org.uk/what_as.htm (accessed 26 March 2012).
- Bhat AN, Landa RJ, Galloway JC. Current Perspective on Motor Functioning in Infants, Children, and Adults With Autism Spectrum Disorders. PHYS THER 2011; 91: 1116-1129.
- Berney T. Asperger syndrome from childhood into adulthood. APT 2004; 10:341-351.
- Freeman B, Cronin P, and Candela P. Asperger syndrome or autistic disorder? The diagnostic dilemma. Focus on Autism and other developmental disabilities 2002;17:145-151.
- Parellada M, Moreno C, et al. Plasma antioxidant capacity is reduced in Asperger syndrome. Journal of Psychiatric Research 2012; 46:394-401.
- Weidenheim K, Escobar A, and Rapin I. Brief Report: Life History and Neuropathology of a Gifted Man with Asperger Syndrome. Journal of Autism and Developmental Disorders 2012;42:460-467.
- Hall CL. Cognitive behaviour therapy and Asperger's disorder : does treatment influence social anxiety and theory of mind? [dissertation]. Lethbridge: Univ. of Lethbridge. 2009.
- Roy M, Dillo W, et al. Effective Methylphenidate Treatment of an Adult Aspergers Syndrome and a Comorbid ADHD: A Clinical Investigation With fMRI. Journal of Attention Disorders. 2009;12(4):381-385.
- Price K, Shiffer M, and Kerns K. Movement Perception and Movement Production in Asperger's Syndrome. Research in Autism Spectrum Disorders; 2012 6:391-398.
- Longhurst J, Richards D, et al. “Outside in” group treatment of youth with Asperger’s. Reclaiming Children and Youth. 2010; 19:40-44.
- Bass M, Duchowny C, and Liabre M. The Effect of Therapeutic Horseback Riding on Social Functioning in Children with Autism. Journal of Autism and Developmental Disorders 2012; 39:1261-1267.
- Pan C. Effects of water exercise swimming program on aquatic skills and social behaviors in children with autism spectrum disorders. Autism 2010; 14(1):9-28.
- Fitzergald M, Corvin A. Diagnosis and differential diagnosis of Asperger Syndrome. Advances in Psychiatric Treatment 2001;7:310-318.