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Diagnosis and differential diagnosis of Asperger syndrome

Mental health and Psychiatry newsJul 17, 2009

Discussion

Asperger syndrome can be misdiagnosed as a variety of conditions (Box 6) requiring contradictory treatments and having a range of outcomes. Misdiagnosis as schizophrenia leads to the prescribing of neuroleptics and an unnecessary risk of tardive dyskinesia; misdiagnosis as ADHD to the prescription of psychostimulants (e.g. methylphenidate), which can cause deterioration in behaviour in this population. The condition may also be at the root of treatment-resistant mental illness in adult psychiatry. Diagnostic confusion increases individual and family burden and causes families to seek unhelpful therapies or join the wrong support groups. Neuropsychiatric disorders may share similar symptoms, for example autistic behaviour in schizophrenia or hyperactivity in ADHD. The problems this poses clinicians are compounded by partial diagnostic assessments or the use of outdated diagnostic categorisations (e.g. putting all ‘autistic-type behaviours’ into a psychotic category or being unaware of the existence of Asperger syndrome, which is not included in ICD–9 or DSM–III).

Box 6. Differential diagnosis of Asperger syndrome

Other pervasive developmental disorders:

Autism

Pervasive developmental disorder not otherwise specified

Childhood disintegrative disorder

Rett disorder

Schizophrenia spectrum disorders:

Schizophrenia

Schizotypal disorder

Schizoid personality disorder

Adult attention-deficit hyperactivity disorder

Obsessive–compulsive disorder

Depression

Other diagnostic categories:

Semantic pragmatic disorder

Deficits in attention, motor control and perception

Multidimensionally impaired disorder

Multiple complex developmental disorder

Cerebellar affective syndrome

Developmental learning disability of the right hemisphere (social–emotional learning disorder

Non-verbal learning disability

Clearly, the differentiation of Asperger disorder from other conditions is complex because of the many possibilities for misdiagnosis. The key to correct diagnosis is a precise early developmental history, with a systematic discussion of all the criteria set out for Asperger syndrome (Wing, 1981; Gillberg, 1991) or Asperger disorder (American Psychiatric Association, 1994). Assessment instruments such as the ADI–R may be useful in establishing diagnosis. A multi-disciplinary team approach is critical, and diagnosis from a solely neurological, speech and language or educational point of view must cease if families are to be spared confused partial diagnoses. Although higher-functioning autistic spectrum disorders and Asperger syndrome may describe the same population, the latter term remains useful. As applied to higher-functioning children it is more acceptable to parents and ensures appropriate service provision for a group who, despite relatively normal cognitive ability, may have comprehensive difficulties.

References

# American Psychiatric Association (1994) Diagnostic and Statistical Manual of Mental Disorders (4th edn) (DSM–IV). Washington DC: APA.
# American Psychiatric Association (2000) Diagnostic and Statistical Manual of Mental Disorders (4th edn, text revision) (DSM–IV–TR). Washington DC: APA.
# Asperger, H. (1944) Die “Autistischen Psychopathen” im Kindesalter. Archives fu"r Psychiatrie und Nervenkrankheiten, 117, 76–136. Trans. (1991) in Autism and Asperger Syndrome (ed. U. Frith), pp. 37–92. Cambridge: Cambridge University Press.
# Baird, G., Charman, T., Baron-Cohen, S., et al (2000) A screening instrument for autism at 18 months of age: a 6-year follow-up study. Journal of the American Academy of Child and Adolescent Psychiatry, 39, 694–702
# Baron-Cohen, S. (1989) Do autistic children have obsessions and compulsions? British Journal of Clinical Psychology, 28, 193–200.
# Baron-Cohen, S. , Cox A., Baird G., et al (1996) Psychological markers in the detection of autism in infancy in a large population. British Journal of Psychiatry, 168, 158–163.
# Bleuler, E. (1911) Dementia Praecox or the Group of Schizophrenias. Trans. (1950) by G. Zinkin. New York: International University Press.
# Cohen, D., Paul, R. & Volkmar, F. (1987) Issues in classification of pervasive developmental disorders and associated conditions. In Handbook of Autism and Pervasive Developmental Disorders (eds D. J. Cohen, A. M. Donnellan & R. Paul), pp. 5–40. New York: John Wiley & Sons.
# Denckla M. B.(1983) The neuropsychology of social-emotional learning disabilities. Archives of Neurology, 40, 461–462.
# Ehlers, S. & Gillberg, C. (1993) The epidemiology of Asperger syndrome. A total population study. Journal of Child Psychology and Psychiatry, 34, 1327–1350.
# Ehlers, S. , Gillberg, C. & Wing, L. (1999) A screening questionnaire for Asperger syndrome and other high functioning autism spectrum disorders in school age children. Journal of Autism and Developmental Disorders, 29, 439–484.
# Erlenmeyer-Kimling, L., Rock, D., Roberts, S. A., et al (2000) Attention, memory, and motor skills as childhood predictors of schizophrenia-related psychoses: the New York High-Risk Project. American Journal of Psychiatry, 157, 1416–1422.
# Fitzgerald, M. (1998) Multidimensionally impaired disorder. Journal of the American Academy of Child and Adolescent Psychiatry, 37, 1125–1126.
# Gillberg, C. (1985) Clinical Child Neuropsychiatry. Cambridge: Cambridge University Press.
# Gillberg, C. (1989) Asperger syndrome in 23 Swedish children. Developmental Medicine and Child Neurology, 31, 520–531.
# Gillberg, C. (1991) Clinical and neurobiological aspects of Asperger’s syndrome in six families studied. In Autism and Asperger’s Syndrome (ed. U. Frith), pp. 122–146. Cambridge: Cambridge University Press.
# Gillberg, C. & Billstedt, E. (2000) Autism and Asperger syndrome: coexistence with other clinical disorders. Acta Psychiatria Scandinavica, 102, 321–330.
# Gillberg, C. , Rasmussen, T., Carlstrom, G., et al (1982) Perceptual, motor and attentional deficits in 6 year old children. Epidemiological aspects. Journal of Child Psychology and Psychiatry, 23, 131–144.
# Gillberg, C. , Rasmussen, T. & Ehlers, S. (1998) High functioning people with autism and Asperger’s syndrome. In Asperger’s Syndrome or High Functioning Autism (eds E. Schoplar, G. Mesihov & L. J. Kunce), pp. 77–100. New York, NY: Planum.
# Howlin, P. (1998) Practitioner review: psychological and educational treatments for autism. Journal of Child Psychology and Psychiatry, 39, 307–322.
# Howlin, P. (2000) Assessment instruments for Asperger Syndrome. Child Psychology and Psychiatry Review, 5, 120–129.
# Jordan, D. R. (1972) Dyslexia in the Classroom. Columbus, OH: Merril.
# Kraepelin, E. (1919) Dementia Praecox and Paraphrenia. In Textbook of Psychiatry (8th edn), pp. 176–177. Edinburgh: E. S. Livingstone.
# Kumra, S., Jacobsen, L. K., Lenane M., et al (1998) Multidimensionally impaired disorder: is it a variant of very early-onset schizophrenia? Journal of the American Academy of Child and Adolescent Psychiatry, 37, 91–99.

Michael Fitzgerald and Aiden Corvin

Michael Fitzgerald is Henry Marsh Professor of Child Psychiatry at Trinity College Dublin (Child and Family Centre, Ballyfermot Road, Ballyfermot, Dublin 10, Ireland. Tel: +353 1 626 7512; fax: +353 1 454 4418; e-mail: ). His primary research interests are autism and autistic spectrum disorders. Aiden Corvin is a Wellcome Trust Research Fellow in Mental Health at the Department of Psychiatry at Trinity Centre for Health Sciences, St. James’s Hospital, Dublin. Dr Corvin was formerly a registrar in child psychiatry at the Child and Family Centre, Ballyfermot. His research interests include autism spectrum disorders and psychiatric genetics, particularly of psychotic disorders. 

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