Autism

Synonyms: Autistic Spectrum Disorder (ASD)

Autism is part of the spectrum of Pervasive Developmental Disorder (PDD - DSM IV). It is characterised by a 'Triad of Impairments' in social interaction, imaginative thought and communication.¹

Autism itself also has a spectrum of disability with extremely disabled individuals, who produce no meaningful verbal or non-verbal communication at one pole, and high functioning individuals, who are articulate but socially awkward and viewed as "odd" at the other.

• There is some 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.
  • There is an association with underlying medical conditions such as untreated phenylketonuria, congenital rubella, cytomegalovirus or toxoplasmosis, Fragile X or tuberous sclerosis. However they are thought to be an association with, rather than a cause of the ASD as many children with these problems are not autistic.
• Environmental factors are implicated:
  • Toxins like lead, antimony and mercury have been found in high levels in the hair and blood samples of affected children.
  • It may be that ASD children are unable to detoxify like others can.
  • This hypothesis is similar to the premise behind the gluten and casein free diet. Peptides produced by gluten and casein act as morphine like substances to ASD children and exaggerate behaviours. There is some evidence for improved behaviour with an appropriate diet.³
• MMR and autism:
  • There has been much to read on this subject,^4,5 but position of the Medical Research Council remains that, "currently there are no epidemiological studies that provide reliable evidence to support the hypothesis that there might be an association between MMR and ASD".⁶ The majority of the original researchers who claimed a link have retracted their interpretations.⁷
  • In the US the Institute of Medicine reached similar conclusions, but added that this conclusion did not exclude the possibility that MMR vaccine could contribute to ASD in a small number of children.

• Prevalence is rising. In 1979 the National Autistic Society (NAS) estimated that there were 39 cases per 10,000.
• By 1993 this had risen to 91 per 10,000.
• In 2001 the Medical Research Council estimated there to be 1 case in every 166 children under 8 years.
• These figures were further backed by the NAS study in the same year of 7 counties which showed 1 in 152 children were affected.
• There is debate as to the cause behind the rise, but a combination of increased and earlier, more specific diagnosis with possibly environmental factors added on seems the prevalent theory.
• Consistent M/F ratio 4:1

Symptoms

Classic autism requires three types of symptoms:

• Impairment of social communication:
  • Child does not develop speech or other effective means of communicating, or may have speech but regress.
  • May repeat learned phrases parrot fashion,(echolalia) often inappropriately.
  • Has poor conversation skills such as turn-taking, volume control and listening.
  • Will only talk about few favourite subjects.
  • Finds abstract concepts e.g. time, very difficult.⁸
• Impairment of social relationships:
  • Child may not like cuddles as a baby.
  • May not imitate people.
  • May not develop peer friendships easily.
  • Child doesn't want to share interest with others.
  • There is little or no eye contact.
  • Child seems happy to be alone and doesn't appear to recognise the feelings of others with an associated lack of empathy.
• Impairment of imaginative thought:
  • Play may be obsessive, with a limited number of toys in a repetitive and odd way.
  • May order or line them up.
  • May spin the wheels of scooters or cars rather than ride them.
  • Only tolerates certain foods.
  • Most comfortable when there is a set routine.
  • May show inflexibility in thought and behaviour.
  • Repeats bizarre motor movements e.g. hand flapping, spinning, rocking.

There are other features which do not fall into these categories. One or more may be found in a proportion of ASD individuals. They include:

• Disordered reaching of development milestones.
• Uneven fine and gross motor skill levels.
• Does not appear to hear when called.
• Covers ears at certain types of sound.
• No response to injury or pain.
• Shies away from touch and being held.
• Removes clothes.
• Spins around repeatedly.
• Disturbed bowel habit.
• Poor sleep patterns.
• Temper tantrums for no obvious reason.
• Smells things repeatedly.
• Hits or bites others, or self.
• Unable to see danger.
• Does not understand simple requests.

Diagnosis requires several of the above symptoms, which need also to persist. A normally developing child may show some of these features for a time, but then lose them.

There is normally cause for concern by 3 years of age with peak incidence 18-30 months. Other conditions need to be excluded and investigations for chromosome analysis, hearing and sight tests are usually taken prior to reaching the diagnosis.

The NAS web site has a useful tool - the CHAT (Checklist for autism in toddlers), which can be used at the 18 month check, or when parents are concerned.
The assessment of children and young people with developmental delay, emotional and behavioural problems, or genetic syndromes should include surveillance for ASD as part of routine practice.⁹

• Asperger's syndrome
• Communication disorder
• Deafness
• Learning disability
• Childhood disintegrative disorders arising after 30 months of age (Heller's disease)
• Rett's disorder

• Epilepsy - appears in puberty for 25% of autistic children
• Visual impairment
• Hearing impairment
• Depression is often seen in adolescents

• Specialist diagnosis required ideally by neuro-developmental paediatrician and/or educational psychologist. Can be reliably diagnosed between 2-3 years of age.
• Where clinically relevant the following should be considered for all children and young people with ASD:
  • Examination of physical status, with particular attention to neurological and dysmorphic features.
  • Karyotyping and Fragile X DNA analysis.
  • Examination of audiological status.
  • Investigations to rule out recognised aetiologies of ASD e.g. tuberous sclerosis.
• The experience of interacting with a child or young person, in order to elicit clinical evidence of ASD is a significant professional task, which cannot be undertaken without a substantial amount of clinical experience. Such skills are not exclusive to disciplines. The crucial ingredients are training and experience.⁹
• Assessments of children and young people for ASD cannot be rushed. It may not be possible to obtain sufficient evidence in one session and the child/young person may require observation in different settings e.g. at school (especially in unstructured activity such as break-time) as well as clinic.
• All children and young people with ASD should have a comprehensive assessment of their speech, language and communication skills which will inform intervention.

• Local support networks may be in place for educational support in mainstream school if appropriate and will feed down from paediatrician or educational psychologist.
• Occupational therapy, speech therapy and physiotherapy may help specific problems.
• Interventions to support communication in ASD are indicated, such as the use of visual augmentation e.g. pictures of objects.
• Advise parents to join self help group, NAS or similar.
• The National Autistic society (NAS) run 'Early Bird' courses for parents. This a 12 week programme to help parents try to understand and begin to cope. Contact: Early Bird Centre 01226 779218 or via E-mail.

The behaviours that the children display can be upsetting, and misunderstood by the general public who may stare at a " naughty child". Insight into why the child is doing these things can be helpful in helping to moderate behaviour and manage it:

• It may be useful to try and think of the child senses as under-active or over-active:
  • For example, if the child is under-sensitive in respect of sight he may seek visual stimulation by flicking lights on and off, lining things up and holding them at the corners of his eyes.
  • If he is over-sensitive he may prefer the dark, blink a lot and avoid being in the sun.
  • In respect of touch, if oversensitive he may find the touch of clothes (or their labels) intolerable and constantly undress. He may dislike hair cutting and washing and avoid certain foods.
  • If under-sensitive he may bump into people for stimulation, (or have poor proprioception), want long crushing hugs, grind teeth and rarely cry when hurt.
• Poor communication can lead to intense frustration and tantrums.
• A particular problem can be fluorescent lighting, which some sufferers are able to see flickering quite clearly. This can cause bad behaviour because of sensory overload.

There are many strategies available to help parents. All claim good success, though the efficacy is not well established for any. The major ones will be outlined and there are links if further information is required. Very few are available on the NHS and costs are generally borne by the parents.

Applied behavioural analysis

Lovaas pioneered a system for teaching skills in bite size pieces by using motivators (specific to the child) to reward achievement.¹⁰ 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 website.¹¹ There is some evidence in support of this approach, particularly for > 30 hours per week.¹² However the Lovaas programme should not be presented as an intervention that will lead to normal functioning.⁹

The picture exchange communication system (PECS)

This is a system of easily recognisable pictures which the child uses to communicate. See further reading.

Sensory integration therapy

If there are marked sensory perception issues e.g. oversensitive to touch, desensitising gently over time may be useful. Contact local Occupational Therapists. Auditory Integration therapy (AIT) is offered to children on the autistic spectrum because they appear to experience pain when listening to certain sounds. In AIT the child listens to modulated music tapes through headphones for a certain period of time. However, two thirds of studies show no benefit. Therefore AIT is not recommended.⁹

Irlen lenses

Placing differently coloured lenses over written matter can help with difficulties in visual perception. See further reading.

Gluten/casein free diet

Many parents claim excellent results for this diet. Luke Jackson, a very articulate teenager with Asperger's, has written an excellent "User's guide".¹³

Pharmacological management

The following have been used by specialists to help with behaviours associated with ASD:^9,14

• Risperidone is useful for short term treatment of significant aggression, tantrums or self injury in children with autism.
• Methylphenidate may be considered for treatment of attention difficulties/hyperactivity children or young people with ASD.
• Melatonin may be considered for treatment of sleep problems which have persisted despite behavioural interventions.

Parents may prefer to try and tackle the stimulus for the behaviour if possible.

• Some children may improve at 4-6 years of age when they may be able to model normal behaviour from school peers. There is currently a policy of inclusion within the education system which will attempt to support the majority of ASD sufferers within mainstream schools. Alternatives do exist. Contact the NAS for their book - School, Units and Classes: for children with autism and Asperger's syndrome. London, NAS, 1992.
• More and more articulate people with ASD are writing about their experiences, (Temple Grandin,¹⁵ Donna Williams.¹⁶) and the public are more knowledgeable and sometimes sympathetic. Adults are living full lives, however the NAS published a report in 2001 called "Ignored or ineligible? The reality for adults living with Autistic spectrum disorders." The results were not positive and showed 49% of adults still living with parents.12% at the higher functioning end were in full-time employment.
• Some will need external support and this can be accessed through a community care assessment.
• The NAS published good practice guidelines for services dealing with adults with ASD in 2002.
• "Prospects" is a NAS supported employment service. Contact via Email.

The term autism was first used by psychiatrist Eugen Bleuler in 1911, to describe a schizophrenic patient who had withdrawn into his own world. Hans Asperger and Leo Kanner both used the term in the 1940s, working separately. Asperger described very able children. Kanner described children who were severely affected. His description, and the downbeat prognosis persisted for the next 30 years.