Babies at risk for autism: Why,
how, and what (do we know)?
Mark Johnson
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Superior Temporal Sulcus/Gyrus
Fusiform Gyrus (blue)
Orbitofrontal Cortex (red)
Left Frontal Operculum
How does the social brain
develop?
Superior Temporal Sulcus/Gyrus
Fusiform Gyrus (blue)
Orbitofrontal Cortex (red)
Left Frontal Operculum
Infants at-risk for autism
Why?
• Research into early onset can get at causal
factors
• Symptoms may be compounded during
development
• Possibility of early intervention
Cause: The triad of
impairment
Social interaction
Communication
Restricted behaviors
and interests
Compounding Symptoms
• In developmental disorders, initial
symptoms can be compounded by
atypical interactions with others and the
environment
• Important to start early; e.g. over 1,000
hours of face-to-face social interaction
in the first year.
Early intervention
• Medical research moving to prevention
rather than cure
• Intervention programmes exist for
young children already diagnosed
• Can we devise interventions for babies
at highest risk, or that show early signs?
How?
• How can study the mind/brain of young
babies?
• What at-risk groups are best for these
studies
• What design of studies should we use?
How (can we study the mind
of babies)?
Behavioral Testing
Looking measures in babies
• Preferential looking
• Habituation
• Eye-tracking
Eye-tracking in babies
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EEG/Event-related potentials
ERP Results
Optical imaging (NIRS)
Optical Imaging (NIRS)
Infants at-risk
• Children with known genetic conditions
(e.g. fragile-X; 30% have ASD)
• Children with other known medical
conditions (e.g. tuberous sclerosis; 24%
have ASD).
• Baby brothers and sisters of older
children with autism (10%+).
Design of studies
• Longitudinal design with infant
measures and assessment at 3 years
• Involves a 5 year-cycle and hundreds of
babies
• Currently very few studies have reached
this stage
So far……
• Why? Cause, compounding,
intervention
• How? New methods, study design
• What? - do we know so far?
Canadian study
(Zwaigenbaum, Bryson and colleagues)
• siblings + low-risk controls
• Assessed at 6, 12, 18 and 24 months,
with diagnostic assessment at 3 years
• AOSI: Autism Observation Scale for
Infants
AOSI (Bryson et al. In press)
• Interactive, play-based measure of early
signs of autism
• Attention & tracking
• Communication (e.g. social babbling)
• Social responses (e.g. peek-a-boo)
• Play (e.g. imitation)
• Motor control
AOSI (examples)
Disengagement of visual attention
Anticipation
Social babbling
Imitation
Results so far
• No big differences at 6 months - most show
typical social behaviours
• At 12 months differences appear in several
measures (e.g. visual tracking, decreased
eye contact, lack of imitation).
• By 18 months these differences are much
clearer, but still only a 80-90% match with
diagnosis at age 3 years
VERY preliminary conclusions
• Indicators are present in most children with
ASD by 18 months
• Key features: early language, social
communication, atypical attention and
orienting
• Developmental trajectories vary: some show
regression, others do not
• A need for more sensitive measures and
methods
Infant Sibs in UK
• Collaboration with Tony Charman (ICH),
Simon Baron-Cohen (Cambridge),
Patrick Bolton (IOP) and others.
• Phase 0 (pilot), 31 baby siblings seen at
10 months. Currently seeing them at 34 years old.
• Phase 1, planned for 100 babies seen
at 6, 12, 24 and 36 months
Pilot (Phase 0) study
• Parent questionnaires about
temperament, medical history etc
• Standardised tests (Mullen, Vineland)
• Physical growth measurements
• Lab measures of attention and
perception
Preliminary findings
• Baby sibs differ as a group from low-risk
controls in subtle measures of attention and
social perception
• One possible reason - this is due to a few
individuals (who may go on to be diagnosed)
• Another possibility - sibs do differ as a group,
but the vast majority “recover from risk” to
develop typically
National Infant Sibs Network
• Funded by Autism Speaks (UK) with
other charities to start in 2008
• Provides a platform for supporting and
encouraging infant sibs work
• Central database with shared measures
• Meetings, workshops, and training
• Mark.johnson@bbk.ac.uk
Centre for Brain & Cognitive Development
BabySibs team
Holly Garwood
Agnes Volein
Leslie Tucker Gergely Csibra
Mayada Elsabbagh
Thanks to:
-Collaborators Tony Charman, Patrick Bolton,
Simon Baron-Cohen
-All the babies and their families
- Our funders MRC and Autism Speaks
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