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This is a PatientPlus article. PatientPlus articles are written for doctors and so the language can be technical, however some people find that they add depth to the patient information leaflets. You may find the abbreviations record helpful.

Asperger's Syndrome

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Definition

A pervasive developmental disorder, first described by Hans Asperger in 1944, Asperger's syndrome (AS) lies within the autistic spectrum. Previously it was called high-functioning autism. The main difference from classic autism is a lack of delayed or retarded cognition and language. Those with AS are also more likely to seek social interaction and share activities and friendships.

Epidemiology

Prevalence is 36-48/10,000. This has changed as diagnostic criteria have become more specific. Lorna Wing (who is credited as having first described a 'triad of impairment') began the debate on whether Asperger's syndrome (AS) is a discrete syndrome from autism/autistic spectrum disorders (ASDs).1 AS primarily occurs in boys, with a fairly consistent ratio of M:F = 4:1.

Aetiology

There is a genetic predisposition. Chromosome 7q is particularly important, though others are also thought to be involved.2
There is 60-95% concordance in identical twins. Twins may be differently affected within the spectrum of disability. Wing described three cases within a family of identical male triplets.3 They had differing severity. These were consistent with the relative traumas they experienced in their perinatal lives.
There is an association with underlying medical conditions such as:

However, this has been shown to be an association with, rather than a cause of autistic spectrum disorder (ASD), as many children with these problems are not on the autistic spectrum.

Environmental factors

Many are implicated. Toxins like lead, antimony and mercury have been found in high levels in the hair and blood samples of affected children. The theory is that ASD children are unable to detoxify like others can, although there is little written on this. This hypothesis also gives the underlying premise behind the gluten- and casein-free diet. Peptides created from gluten and casein accumulate and act as morphine-like substances to ASD children. They exaggerate behaviours. A recent Cochrane Review found some evidence to support a gluten- and casein-free diet.4

Measles, mumps and rubella (MMR) vaccine and autism

An awful lot has been written on this subject (see further reading) but, to summarise the current position of the Medical Research Council:5
"Currently there are no epidemiological studies that provide reliable evidence to support the hypothesis that there might be an association between MMR and ASD". In the USA, the Institute of Medicine reached similar conclusions, but added that: "its conclusion does not exclude the possibility that MMR vaccine could contribute to ASD in a small number of children".

The Health Protection Agency's figures show immunisation rates across the UK population fell from 92% before the controversy, to 80% by 2003/2004. Uptake of MMR vaccine by two years of age has now settled at a fairly constant 85% (although London still lags behind the rest of the country) in the 2008/2009 cohort.6

Presentation

In classic autism children tend to be spotted earlier (18-30 months) because of impaired communication. In Asperger's syndrome (AS) the diagnosis comes later - pre-school, if lucky. Many people with AS may learn to mask their problems. They may present as patients with no serious mental health problem, but who are anxious, lonely, have a poor employment record and just don't seem to fit in.

Language

There is normal speech development before age four years, with good grammar and vocabulary. However, their tone is flat and they are pedantic. They also have a restricted repertoire of subjects. They have poor non-verbal communication skills. They may take language very literally and be unable to interpret idiom for example, 'in a nutshell'. They will be confused at how what you are talking about is going to end up inside a nut.

Cognition

They are often obsessed with complex subjects and described as 'eccentric' or 'little professors'. IQ is normal - above average. They score well in verbal ability but below average in performance abilities. Patients with AS may be highly creative, and have exhibited outstanding skills in mathematics, music, and computer sciences. Their strength lies in concrete, rather than abstract, thinking. They have poor powers of imagination. They lack an intuitive theory of mind (ability to imagine what others are thinking or feeling), and are often unable to talk about their own emotions, which may lead to anxiety and depression in later life.7

Behaviour

There are delayed motor milestones and then clumsiness. There are poor sleep patterns. They experience difficulties falling, and staying, asleep. They are Interested in others more than with autism but do not share interests. Their interaction is naïve and one-sided. They are solitary, with no friends; socially aware - but may display inappropriate reciprocal interaction. They may be seen as eccentric. They are excellent train-spotters and collectors.

Diagnosis should be undertaken by a specialist: a neuro-developmental paediatrician or an educational psychologist.

Differential diagnosis
Investigations
  • Sight and hearing tests
  • Chromosome analysis
  • IQ testing: older children
Management

General points

  • The National Autistic Society believes that early diagnosis and support are beneficial.
  • Education, building on their own specific interests, gives greatest return. Any learning needs to be taken in small steps.
  • They thrive with a good routine. Positive behaviour should be reinforced and rewarded.
  • They may benefit from social skills and communication training.
  • Children may be vulnerable in school, as the disability tends to be less obvious than autism. They are often bullied.
  • Adults will need support and encouragement to lead independent lives. Counselling may be useful if depression is a problem.

There are many strategies available to help parents. The efficacy of these is largely unproven; however, the major ones are outlined here. Very few are available on the NHS.

Applied behavioural analysis

Lovaas pioneered this system for teaching skills in bite-sized pieces by using motivators (specific to the child) to reward achievement.8 It is taught intensively (40 hours per week) in a one-to-one situation. It should be started as early as possible. There are some specialised schools which use this method extensively. They tend to be independent and expensive. Tutors can be contacted to come to the home. See PEACH's website.9

Sensory integration therapy

If there are marked sensory perception issues, e.g. oversensitivity to touch, desensitising gently over time may be useful. Contact local occupational therapists.

Irlen lenses

Placing differently coloured lenses over written matter can help with difficulties in visual perception.10

Gluten- and casein-free diet

Many parents claim improvements in bowel habit and sleep patterns whilst using this diet. Luke Jackson, a very articulate teenager with Asperger's syndrome (AS), has written an excellent user's guide. See below under Internet and Further Reading.

Ritalin

This has been used by specialists to help with hyperactive behaviours associated with autistic spectrum disorder (ASD). Parents may prefer to try to tackle the stimulus for the behaviour if possible.

There are many interventions that are all championed by those who use them. For up-to-date information and advice on biomedical interventions and how/when to introduce them, see The Sunderland Protocol at the Autism Research Unit in the University of Sunderland.11

Risperidone

This has been shown to be beneficial in some features of autism.12 However, the review commented that there was only limited data available from studies with small sample sizes.

Complications
  • Depression
  • Suicide
Prognosis

Because of their ability to compensate and mask their problems, many do find work in mainstream jobs.
Relationships, personal and social, remain difficult. Few marry.


Document references
  1. Wing L; Asperger's syndrome: a clinical account. Psychol Med. 1981 Feb;11(1):115 [abstract]
  2. Bonora E, Lamb JA, Barnby G, et al; Mutation screening and association analysis of six candidate genes for autism on chromosome 7q. Eur J Hum Genet. 2005 Feb;13(2):198-207. [abstract]
  3. Burgoine E, Wing L; Identical triplets with Asperger's syndrome. Br J Psychiatry. 1983 Sep;143:261 [abstract]
  4. Millward C, Ferriter M, Calver S, et al; Gluten- and casein-free diets for autistic spectrum disorder. Cochrane Database Syst Rev. 2004;(2):CD003498. [abstract]
  5. Medical Research Council (December 2001), MRC Review of Autism Research: Epidemiology and Causes. London. Medical Research Council.
  6. The Information Centre. Immunisation statistics, England 2005-2006; September 2006
  7. Frith U; Emanuel Miller lecture: confusions and controversies about Asperger syndrome. J Child Psychol Psychiatry. 2004 May;45(4):672 [abstract]
  8. Lovaas OI; Behavioral treatment and normal educational and intellectual functioning in young autistic children. J Consult Clin Psychol. 1987 Feb;55(1):3-9.
  9. PEACH; Parents for the Early intervention of Autism (Peach). UK parent-led charity established to promote early behavioural intervention for young children with autism, Applied Behavioural Analysis (ABA).
  10. Irlen Institute. Lenses for assistance in reading/concentration
  11. The Sunderland Protocol at the Autism Research Unit in the University of Sunderland
  12. Jesner OS, Aref, Coren E; Risperidone for autism spectrum disorder. Cochrane Database Syst Rev. 2007 Jan 24;(1):CD005040. [abstract]

Internet and further reading
Acknowledgements EMIS is grateful to Dr Hayley Willacy for writing this article. The final copy has passed scrutiny by the independent Mentor GP reviewing team. ©EMIS 2010.
Document ID: 1824
Document Version: 22
Document Reference: bgp1346
Last Updated: 23 Jan 2010
Planned Review: 22 Jan 2013

The authors and editors of this article are employed to create accurate and up to date content reflecting reliable research evidence, guidance and best clinical practice. They are free from any commercial conflicts of interest. Find out more about updating.

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Recommended Book
Asperger's Syndrome - The Essential GuideAsperger's Syndrome - The Essential Guide
Available in the Patient UK Bookshop
Recommended Book
Asperger's Syndrome - The Essential GuideAsperger's Syndrome - The Essential Guide
Available in the Patient UK Bookshop

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