Autism

Question 1

How is autism defined?

Answer 1

1. Persistent deficits in social communication and social interaction across multiple contexts.
2. Restricted, repetitive patterns of behaviour, interests, or activities.

Question 2

How do deficits in social communication and interaction manifest?

Answer 2

Deficits in social-emotional reciprocity
In non-verbal communicative behaviours used for social interaction
In developing, maintaining and understanding relationships

i.e. social interaction/play dysfunction
language/gaze/gesture dysfunction.

Question 3

What is the Sally/Anne doll test?

Answer 3

Two dolls (Sally and Anne) shown to child.
Sally has basket, Anne has box.
Sally puts a marble inside basket, then leaves and goes outside where she can no longer see the basket.
While Sally is gone, Anne takes the marble out of Sally’s basket and puts it in her box.
The child is told that Sally comes back inside.
Ask, “Where will Sally look for the marble?”
Most autistic children say box.
Most typically developing children say basket.

Question 4

How do restricted, repetitive patterns of behaviour, interests or activities manifest themselves?

Answer 4

Stereotyped or repetitive motor movements, use of objects, or speech; insistence on sameness, inflexible adherence to routines or ritualized patterns or verbal nonverbal behaviour, fixated interests that are abnormal in intensity or focus.

Question 5

What are the comorbidities of autism?

Answer 5

Cognitive delay/ML/LD
Seizures
Anxiety
OCD
Oppositional defiant

Question 6

Is it more common in males or females?

Answer 6

Males, 4:1 ratio.

Question 7

What is the aetiology of autism?

Answer 7

Intrauterine valproate
aternal/congenital rubella, CMV
Genetics (MZ twin concordance 70-90%)

Question 8

How is autism treated?

Answer 8

Speech/language therapy
Applied behaviour analysis
Picture exchange communication system
Social group skills
Sensory Integration therapy.

Question 9

What is wrong in the autistic brain?

Answer 9

Early brain overgrowth
Frontal/temporal cortex, caudate and cerebellum affected
Cellular dysfunction - synaptic organisation, ‘surfeit of spines’ - too many long distance connections, not enough connections within a region.

Question 10

What did a GWAS on autism find?

Answer 10

Most significant result on chromosome 5 in area between two genes, they encode catherin cell adhesion molecules.
CDH9 and CDH10 genes
CDH10 possibly the gene affected.