terms and models TERM 2 Flashcards
reasons for atypical development
pre-natal effects
environmental effects
genetic effects - spontaneous mutations
multifaceted effects - ASD, ADHD
Autism and airport bags
improved overtime in accurately rejecting bags when target wasn’t present
16p11.2
duplication/deletion of certain part of chromosome
varied presentation leads to developmental delay
chromosomes
chromsome arm- short = p, long = q
chromosome region - labelled with numbers (lower = closer to centre)
genes
DNA lives inside.. > genes (21,000 types) > chromosomes (100/1000s genes) > cell
DNA inside genes inside chromosomes
copy number variants
duplicate or deletion
williams syndrome
deletion of 7q11.2
1 in 10,000
- distinct facial features, cardiac & cognitive abnormalities, highly sociable personality
cognitive profile:
- strengths in verbal, visuospatial IQ
agent that causes change in embryo
teratogen
down syndrome
duplicate of 21st chromosome
can be full or partial duplication
physical characteristics of DS
short neck
flat face
upward slanting eyes
wide short hands - deep crease
poor muscle tone
cognitive characteristics of DS
short attention span
impulsive
slow learning
delayed speech development
variable IQ (30-70)
chromosomes
small arm - p
large arm - q
fetal alcohol syndrome
alcohol = teratogen (changes embryo)
depends on when during gestation period alcohol is consumed
binge drinking worsens symptoms
ethanol = alters DNA and protein synthesis
Canada - 2-3% of school children
shares impairments with ADHD
intellectual disability
affects 1.4%
diagnosis based on IQ tests
classified as:
Mild: 52-69 (IQ)
moderte: 36-51
severe: 20-35
profound: <19
ADHD
inattention
hyperactivity and impulsivity
Autism
Deficits in social interaction
restricted, repetitive behaviour
atypical development
delayed, advanced development
the extremes of individual differences in development
patterns of atypical development
typical
delay - attainment gap, develop slower
delay with catchup - same as delay but catch up to advanced
lower starting point - rate of development normal but don’t catch up
advanced - good skill (more typical)
regression
skill developing typically then child loses aspect of skill (actively get worse)
seen in language and motor skills
typical in ASD, intellectual disabilties
development across multiple domains
social - eye contact, empathy, turn-taking
adaptive behaviour - living skills
cognitive - memory, IQ
physical - microcephaly (smaller head, macrocephaly (large head)
motor skill - balance
vineland adaptive behaviour scales
communication - receptive (understanding), expressive (spoken), written
daily living skills - personal, domestic, community (use of time, money)
socialisation - interpersonal relationships, play and leisure, coping skills
motor skills - fine, gross
maladaptive behaviour - internalising, externalising
scoring standardised tests
convert raw scores to standard scores against age-gender pp
removes individual differences
investigating atypical development
consider performance against appropriate control
investigate developmental trajectories
benefits of standardised scores
can standardise performance
easy to interpret
not one set way - allows for comparison
specific experimental designs
face perception
ToM
response inhibition (go-no go)
williams syndrome
genetic test to confirm - blood tests identify absence of ELN gene
FISH test - fluorescent in-situ hybridization
down syndrome
screening pregnancies - 12 weeks
‘combined’ test:
blood tests and nuchal translucency scan (checks build up of fluid behind the neck)
if high risk, given amniocentesis to confirm
conditions trickier to diagnose
comorbidity between ADHD and autism - 70%
but listed as two separate conditions in DSM-5
diagnosing autism
referral then assessment
Repetitive movements, use of objects, ritualised patterns and speech
Fixated interests that are intensely abnormal
Hyper or hypoactivity to sensory input or unusual interest in sensory aspects of the environment
PERSISTENT DEFICITS IN SOCIAL COMMUNICATION AND SOCIAL INTERACTION ACORSS CONTEXTS
diagnosing ADHD
standardised tests:
conners rating scales - 3 forms = parent, teacher, self-report
- converted to t-scores
strengths and difficulties questionnaire
inattention, hyperactivity, impulsivity
tools used to diagnose autism
ADOS - autism diagnostic observational schedule
= semi-structured interview to study presence/absence of certain behaviours
- map behaviours into coding section of the manual and calculate pp score
ADI - autism diagnostic inventory
M-CHAT
screening on children, study = 114x more likely to be diagnosed with autism when screening was positive (may not be accurate)
mean age of diagnosis for autism and aspergers
autism - 5.5 years
asbergers - 11 years
mean age when parents first has concerns
autism - 18 months
asperges - 30 months
infant siblings approach to autism
1 in 5 children with older sibling with autism will go on to be diagnosed
EEG - autism
12 months - low risk group had higher coherence in the brain
repeated with same group and found similar results
biomarker = level of coherence
eye tracking - autism
neurotypical - more time looking at people
ASC - looked at geometric patterns
fNIRs
optical imaging method
light that doesn’t exit the cortex has been absorbed
main absorber of near-infrared light= Hb
infants with higher chance of having ASC (sibling with ASC) had reduced activity in temporal cortex in response to social stimuli
prevalence of ASC
2008 - 1 in 88
2010 - 1 in 68
2012 - 1 in 69
2014 - 1 in 58
evidence of genetic influence in autism
co-occurence = monozygotic twins = 77%, dizygotic twins = 31%
co-occurs with other genetic conditions
broad autism phenotype - increase in autistic features seen in MIAFS (multi-incidence of autism families) and SIAFs (single incidence of autism families)
AUTISTIC TRAITS TOO MILD TO ALLOW DIAGNOSIS (seen in relatives to autistic person - without diagnosis)
sotos syndrome
macrocephaly - advanced bone growth
1 in 14,000
deletions on chromosome 5 including NSD1 gene
83% with sotos score above clinical cut-off for ASC
complex genetics in autism
65 different genes associated
not one single gene - possible interactions between genes
10-20% of ASC cases are associated to genetic abnormality
environmental epidemiology
observation of human populations to infer the environmental cause of a condition
important to avoid bad science
Wakefield measles
suggested link between autism and MMR vaccine
more people then contracted measles
no real evidence found in repeat studies with larger sample of 650,000 people
environmental facts linked to autism
prenatal viral infection/ stress
maternal diabetes/ obesity
teratogens
pollution
pesticide exposure during first 8 weeks of pregnancy
parental age
Hills criteria of establishing causality
biological gradient
temporality
strength
experimental
coherence
consistent
analogy
plausibility
specificity
= BTSECCAPS
using meta-analyses
odds ratio
statistical method for understanding association between exposure and outcome
OR = 1 - no relationship
OR < 1 - negative correlation, greater… leads to less effect of…
OR > 1 - positive correlation, greater exposure… leads to greater effect of…
gene-environment interaction for autism
alteration to MET gene AND increased exposure to air pollution = increased risk of autism
co-production
process of conducting research in partnership with the population you are focusing on
levels:
consultation - no formal involvement
involvement - still largely led by clinicians
participate - take part in defined activity
co-production
‘nothing about us without us’
why is co-production used
effective in informing theory and applying to general life
good for ethics
better insights
challenges preconceptions
COVID-19 and down syndrome
40+ = 4x more likely to be hospitalised
10x more likely to die
decreased disability programmes
33% with DS were more irritable, 52% more anxious and 41% more sad
COVID and ADHD
533 parents
34.71% of parents reported worsening in Childs behaviours, 30.96% reported an improvement in behaviour
male to female ratio for autism
4:1