Autism

Question 1

DSM V criteria for autism?

Answer 1

1. Impaired social communication

2. Restricted and repetitive patterns of behaviour. Must display symptoms from young age.

Question 2

What are the features of impaired social communication?

Answer 2

• Impaired EC
• Lack of social reciprocity
• Poor use of gestures / facial expression
• Poor or absent joint attention (e.g. look over there, doesn’t)
• Lack of finger pointing
• Limited or absent peer relationships (may follow / copy older children)
• Lack of appropriate imaginative play
• Language delay (esp pragmatic, echolalia). Very strong association

Question 3

What are the restricted or repetitive patterns of behaviour observed in autism?

Answer 3

Love routine.

• Abnormal preoccupations / activities
• Delayed imaginative and social imitative play
• Receptive play (focus on toy structure i.e. wheel not play with car; lining up objects not using)
• Difficulties with change
• Stereotyped mannerism (hand flapping, rocking, spinning)
• Over or under reaction to stimuli (textures, sounds, smells, taste)

Question 4

What are examples of savant skills?

Answer 4

• Hyperlexia
• Calendar calculation
• Perspective drawing
• Numerical calculation

Question 5

How is autism diagnosed?

Answer 5

• Hx, Px and Ix
• Reports from childcare and preschool
• CHAT (checklist)
• ADOS-G: autism diagnosis observation schedule
• Multidisciplinary team * best way * with ADOS (all separate observations and make joint decision) 
	○ Speech therapist
	○ Psychologist 
	○ Paediatrician

Question 6

What are red flags for autism to elicit on history?

Answer 6

• No smiling by 12m (cf 2m)
• No babbling, pointing, gestures by 12m
• No single words by 16m
• No 2 word spontaneous by 24m (non echolalic)
• Preference for solitude (lack of EC and social interest)
• any loss of language or social skill
• Delayed or absent joint attention

Question 7

What is autism spectrum disorder associated with? (other conditions)

Answer 7

• Developmental delay and intellectual disability (70%)
• Increased incidence of epilepsy
• Language regression between 15-24m (improves with intervention).

Question 8

What are common ASD comorbidities?

Answer 8

• ID
• Anxiety
• Depression
• OCD
• Disruptive and aggressive behaviour
• Tics
• Sleep disturbance

Question 9

What are RFx for autism?

Answer 9

• M:F 3:1
• Older fathers inc risk of child with autism
• Monozygotic twin concordance 70-90%

Question 10

Pathophysiology of ASD?

Answer 10

Unknown ?lack of theory of mind: ability to comprehend everyone has their own mindset

Question 11

DDx of ASD?

Answer 11

• Specific language delay, GDD
• ID
• Hearing impairment
• Epileptic encephalopathy
• Child neglect
• Social communication disorder (but not 2nd criteria)
• Anxiety or depressive disorder

Question 12

Ddx of developmental regression?

Answer 12

ASD or Rett’s

Question 13

Which conditions may mimic or mask autism?

Answer 13

• Chromosomal disorders
• Fragile X syndrome
• Tuberous sclerosis
• Epileptic encephalopathy
• Foetal alcohol syndrome
• Angelman syndrome (del 15q11 - 13mat)

Question 14

Ix in ?ASD?

Answer 14

• Microarray or karyotype (no longer recommended; not routine but if strong FHx)
• Fragile X (common cause ID in males)
• Consider: thyroid (cretinism), UE / LFT / ammonia / lead
  -Audiology assessment (any child with speech delay)
  -EEGs, MRI brain
  Often all negative.

Question 15

What are the 3 goals of early diagnosis?

Answer 15

1. Make cateogorical diagnosis
2. Determine level of functioning
3. Look for underlying cause

Question 16

What are the principles of ASD mx?

Answer 16

• Optimise function: early intervention key (SP, OT, psych)
• Reduction problem behaviours
• Improve communication
• Symptom control
• -aggression = risperidone
• -ADHD traits = stimulants
• Family support with integrative medicne

Question 17

What is Rett syndrome?

Answer 17

Severe neurodevelopmental disorder that contributes significantly to severe ID in females worldwide. Caused by mutations in MECP2 in the majority of cases. Atypical cases may result from mutations in CDKL5, particularly the early onset seizure variant.

Question 18

What is protodeclarative finger pointing?

Answer 18

Trying to get you to share my attention (i.e. look at the bird over there).

Question 19

What is protoimperative finger pointing?

Answer 19

Trying to ask for something by pointing (i.e. i want that glass by pointing).

Question 20

How may impaired EC be described in autistic children?

Answer 20

Looking “through you”. At forehead , behind you etc

Question 21

How is language impaired specifically in autism?

Answer 21

Receptive and expressive may be preserved.

• Pragmatics: the way you use language i.e. with subtle nuances of language like sarcasm, jokes
• Echolalia: repetition / parroting back. Words / sounds / noises.

Question 22

What are the practical limitations of ADOS-G?

Answer 22

• Time consuming (requires ~1d)
• Costly ($1000 private)
• Long wait to assessment in public sector

Question 23

Risperidone AEx?

Answer 23

• Significant weight gain
• Sedation
• EPSE