Autism Flashcards
DSM V criteria for autism?
- Impaired social communication
2. Restricted and repetitive patterns of behaviour. Must display symptoms from young age.
What are the features of impaired social communication?
- 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
What are the restricted or repetitive patterns of behaviour observed in autism?
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)
What are examples of savant skills?
- Hyperlexia
- Calendar calculation
- Perspective drawing
- Numerical calculation
How is autism diagnosed?
• 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
What are red flags for autism to elicit on history?
- 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
What is autism spectrum disorder associated with? (other conditions)
- Developmental delay and intellectual disability (70%)
- Increased incidence of epilepsy
- Language regression between 15-24m (improves with intervention).
What are common ASD comorbidities?
- ID
- Anxiety
- Depression
- OCD
- Disruptive and aggressive behaviour
- Tics
- Sleep disturbance
What are RFx for autism?
- M:F 3:1
- Older fathers inc risk of child with autism
- Monozygotic twin concordance 70-90%
Pathophysiology of ASD?
Unknown ?lack of theory of mind: ability to comprehend everyone has their own mindset
DDx of ASD?
- Specific language delay, GDD
- ID
- Hearing impairment
- Epileptic encephalopathy
- Child neglect
- Social communication disorder (but not 2nd criteria)
- Anxiety or depressive disorder
Ddx of developmental regression?
ASD or Rett’s
Which conditions may mimic or mask autism?
- Chromosomal disorders
- Fragile X syndrome
- Tuberous sclerosis
- Epileptic encephalopathy
- Foetal alcohol syndrome
- Angelman syndrome (del 15q11 - 13mat)
Ix in ?ASD?
- 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.
What are the 3 goals of early diagnosis?
- Make cateogorical diagnosis
- Determine level of functioning
- Look for underlying cause
