Autistic Spectrum Disorders

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Introduction

 

In the US, the prevalence in children age 8 was 1:88 (ADDM, 2008). It is likely that improved diagnosis, as well as ingreased

 

The mind is its own place, and in itself can make a heaven of hell, a hell of heaven - John Milton.

 

 

The Case of Jimmy R.

Jimmy is a 4 year-old boy who comes to your practice for the first time. His mother is concerned about his development; he primarily plays alone, engages poorly with others, and can have very significant outbursts of anger.

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Causes and Risk Factors

 

There are many proposed causes of ASD. These include:

 

Genetic and chromosomal abnormalities: Approximately 5% of people with autism have fragile X syndrome; other chromosomal abnormalities are seen in 5% of people with autism, including Down's syndrome or tuberous sclerosis. Mutations in serotonin functioning, eg the 5-HT transporter or receptor, appears involved in some people.

 

Metabolic abnormalities: PKU, histidinemia, Lesch Nyhan Syndrome.

 

Infections such as rubella, CMV, herpes simplex, or HIV may be linked with development of ASD.

 

The MMR vaccine does not appear linked to ASD. Andrew Wakefield published a connection in 1998, based on a case series of 12 children. However, this has since been strongly discounted, including by by a large Danish study.

Parents should be advised regarding the risks of refusing the MMR vaccine, including the negative consequences of measles.

 

Rates are higher in males (1:54) than females (1:252).

Siblings of children with ASD have an approximate 20% chance of also being diagnosed.

 

 

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Pathophysiology

PET scans have shown changes in the cortex and limbic systems.

 

ASD is often seen with co-morbid conditions such as ADHD, OCD, and seizure or anxiety disorders.

 

 

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Autism Spectrum Disorder

Autistic spectrum disorders have been discussed to include:

• autistic disorder
• Asperger syndrome
• pervasive developmental disorder
• childhood disintegrative disorder

The DSM-V now proposes one umbrella term - autistic spectrum disorder.

 

Diagnostic criteria for autism:

Symptoms should be evident before age 3.

social interaction impairments marked impairment in multiple nonverbal behaviours failure to develop peer relationships markedly impaired expression of pleasure in other people's happiness lack of social or emotional reciprocity

communication interaction impairments delay in/lack of spoken language, not compensated for by mime, gestures, etc; highly variable if adequate speech, marked impairment to iniate or sustain conversation stereotyped, repetitive use of language lack of spontaneous make-belief play or social imitative play

repetitive, restrictive, or stereotyped behaviours encompassing preoccupation with special interests abnormal in intensity or focus compulsive adherence to non-functional routines or rituals stereotyped motor mannerisms persistent preocupation with parts of objects

 

Presents in early childhood development.

 

Sub-criteria

 

decision-making

Many children are affectionate

 

 

Asperger's Syndrome

Impairment of non-verbal communication, with idosyncracies in verbal communication.

Social maladaption and special interests

Intellectualization of affect

Clumsiness and poor body awareness

onset above age 3

meets DSM criteria for autism, except for language and cognitive development

 

 

Signs and Symptoms

In considering a child with a potential diagnosis, there is the acronym ALARM (Johnson and Myers, 2007).

Video clips of ASD

 

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Investigations

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Differential Diagnosis

 

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Treatments

Be empathetic and supportive for parents and siblings. Build on strengths and address weaknesses.

 

Early referral is warranted, to pediatricians or early childhood development teams. SLP, physiotherapist, OT, psychologist

 

Clarify the myth of immunizations.

 

Developmental exercises and coping strategies should be provided and supported with parents.

• be patient; allow sufficient time for the

Applying deep pressure to joints, such as elbows or shoulders, in overstimulating environments.

Communicating through pictures can be helpful; scripts can be helpful.

Medications

• stimulants
• SSRI
• anticonvulsants
• aripiprazole

 

Behavioural therapy should use the pronciple of stimulus, response, reward. The goal is reduce abnormal behaviour, increase communication, and improve social function. (Reichow e al, 2012). Behaviours are ideally started between ages 3-6; trained therapists can be very helpful, but these concepts can also be taught to parents and others who can provide therapies at home.

 

Government funding or grants can helpful for supporting therapies.

 

A number of complementary and alternative medicine (CAM) are used; these include:

• acupuncture
• auditory training
• omega 3
• IV secretin
• gluten and casein free diet - potentially some improvement (Millard, Ferriter, and Connell-Jones, 201x)
• vitamin B6-magnesium

Unfortunately, while many clinicians and parents endorse the potential of these treatments, the evidence supporting them is either weak or non-existent.

 

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Consequences and Course

 

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Resources and References

 

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Topic Development

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