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
extreme male brain theory - Baron-Cohen
ASC has typical male profile (low empathy and high systemising)
foetal testosterone associated with Individual Differences in eye contact, development and autistic traits in typically developing children
gender differences in systemising quotient and empathising quotient
neuro-typical males score higher on systemising
autistic females score similar to neurotypical males
neuro-typical females score high on empathising
autistic male and females score lower
ratios for autism in different studies (MALE:FEMALE)
loomed meta-analysis
overall = 4.2 to 1
high quality studies = 3.32 to 1
only pp with existing ASC diagnosis = 4.56 to 1
population identifying ASC diagnosis = 3.25 to 1
suggests females have greater risk of having ASC overlooked
females and ADHD
3/4 females with ADHD undiagnosed
diagnosed on average 5 yrs later than males
camouflage scores higher (masking symptoms to fit in) - girls more likely to be inattentive
early studies primarily on boys
williams syndrome strength - relative (delayed in comparison to neurotypical)
known cause
verbal language ability
fluency
syntax
grammar
williams syndrome weakness
pragmatics (understanding meaning of words)
executive functions - inhibitory control
WM
visuospatial abilities
autism strengths
attentional to detail
good visual search skills - good at conjunction and feature search - outperformed neutrotypical regardless of task
weakness of autism
unknown cause
theory of mind - understanding emotions
executive fucntions
working memory
- research is equivocal
PECS
speech and language therapy - help Williams and autism
stages:
1. picture exchange - swapping picture for item
2. generalise to others
3. two picture exchnage
4. sentence construction
5. verbs, adjectives
6. answer question
7. commenting
play therapy
directive (therapist takes lead) or non-directive (less structured)
storytelling, role play etc
reduced ADHD and social anxiety - increase social-emotional competency
music therapy
better verbal recall when info was sung for those without lessons
with training = good recall with spoken info
possibly aids verbal working
improve concentration
applied behavioural analyses
intensive - 40 hrs per week
positive conditioning
relies on parents to reinforce behaviour outside therapy
effectiveness - groups who received therapy outperformed on IQ, non verbal IQ, expressive and receptive language and adaptive behaviour
therapies helping Williams syndrome
physiotherapy - help poor muscle tone
applied behavioural analyses
early start Denver model
music and play therapy
PECS
life expectancy of williams syndrome
similar to neurotypical individuals
can be shortened due to comorbid conditions
life expectancy of autism
16yrs earlier than neurotypical people
rises to 30 yrs earlier when they have intellectual disability
autistica
‘personal tragedies, public crisis’
campaign to revise national strategy supporting autistic adults
revised to reduce gap in life expectancy by doing greater research and developing policies/treatment
life expectancy of down syndrome
1949 - 12 yrs
currently - 60 yrs
why? - improvements in living conditions, more than half have congenital heart codnitions
williams syndrome - adulthood
study: mean age = 26, mean IQ = 61
almost identical cognitive profile to children with WS
stayed low levels of social adaptation, reading, spelling
adult life - howling and udwin
Williams syndrome-
79% had heart problems
71% attended college - only 33% attained qualifications
62% still lived with family
51% had depression/anxiety
30% day centres
20% full time educuation still
18% part time employment
16% lived independently
2% residential support
1.6% full time employment
support in adulthood - WS
limited support for adults
23% of parents dissatisfied with medical help
33% unhappy with educational provision
20% unhappy with workplace assistance
adulthood in down syndrome
physical: accelerated ageing (due to elastin), developmental gap widens with age
cognitive: memory decline in-line with neurotypical individuals
difficulty to properly investigate due to comorbid
alzheimers
excessive amounts of two proteins: amyloid and tau (tangles)
gene that codes for amyloid is located on same chromosome duplicated in downs syndrome
100% individuals 40+ yrs show plaques associated with Alzheimers
Down syndrome and alzheimer’s
30-39 yrs - 33% show signs of AD
40-59 yrs - 55%
60+ = 75%
age of onset typically 65yr+ in neuro-typical people
presents differently
causes for lost generation (late diagnosis) - autism
change in diagnostic criteria
comorbidity
reduced stigma - generational differences
better recognition
gender differences - camouflaging
support after diagnosis as an adult
dissatisfying treatment options
limited pathways to speech and language therapy for adults
future aims
autism strategy = requirements regarding minimum levels of support
superseded by think autism = 15 priority areas for development
motivation for studying maths
24% of adults in uk have maths ability lower than threshold to function
use maths in daily lives
globally: 1/5 adults unable to deal with two step calculations
order we learn math skills
in order:
non symbolic number
learn count list
symbolic number
arithmetic operations
rational umbers
algebra
symbolic number mapping
two forms- number words (one) and arabic digits (1)
number word acquisition
children learn count sequence by rote (memorising) before understanding meaning
learn meaning of number two by 24-36 months
culture dependent
morphological bootstrapping hypothesis
language with singular and plural distinction help children to learn the meaning of numbers faster
counting principles
one-to-one
stable order
abstraction
order irrelevance
cardinality
one-to-one principle
each object only counted once
each number word paired with one object
all objects paired with number word
stable order principle
number words are recited in a fixed order
1,2,3,4,5
abstraction principle
any array of sets can be counted
regardless of characteristics (shape, colour, size)
e.g. can count 3 dogs and 3 cats as 6 animals
order irrelevance principle
order in which objects are counted doesn’t matter
leads to the same result
cardinality principle
last number in count sequence describes how many there were in total (count to five = five objects)
describes order and quantity
testing cardinality principle
grabbers - only procedural knowledge
pre-number-knowers - number children give isn’t related to number asked
subset-knowers - numbers too high = unable to grasp
cardinal principle knower - successful (usually around 3-4yrs)
arabic digit acquisition
actual written digit (e.g 3 )
required later than number words
explicitly taught in schools
jimenez - connecting spoken word to written word
2-4 yrs
A - quantity to number word
B - number word to quantity
C - number word to digit
D - digit to number word
E - quantity to digit
F - digit to quantity
connecting number words, digits, quantities
3-4 yrs
six mapping tasks
mapping between numerals and quantities more difficult than between number words and quantities/numerals
ordinality
relation between items in a sequence
emerges later than cardinality
7-12 yrs: adjacent (2,1,3) and non adjacent sequences (3,5,8) accurate
number order task
choose numbers in order from smallest to largest asap
more appropriate for younger children
order judgement task
presented with 3 numbers - decide if sequence in ascending order or not asap
struggle when order is not adjacent sequence and not in order
home numeracy environment
parents involvement
no consensus on specific components that should be included to capture parents involvement
small positive correlation between one and maths achievement (advanced activities)
obersvaetional studies/questionnaires - maths
parent number talk: record parent utterances related to maths language (number words and magnitude comparison)
quantify code words
home numeracy environment -
direct: explicite activities targeting maths
indirect: everyday activities coincidentally involving maths
HNE and parent factors
most studies involve mothers
when both parents participate, only mothers activities linked to children maths skills
mothers with higher education = expose children to more advanced numeracy
parents attitudes/anxiety towards maths influences children
early numeracy skills
large individual differences
children who enter kindergarten with poor numeracy don’t catch up - lack of early identification
meta-analysis:
- early maths skills strong predictor on later maths and reading skills + overall academic performance
predictors of numeracy
pathways to mathematics model: 3 pathways
-quantitative
-working memory
-linguistic
quantitative skills
subitising = determine number of items in set without counting
produced maths outcome 2 yrs later
non symbolic arithmetic = adding/subtracting with mainpulations
counting
estimation = estimate dots without counting
number comparison = non-symbolic (dots), symbolic (digits) - asked which side has more dots/digits
working memory pathway
verbal WM - asked to repeat list of numbers in reverse
visuospatial WM - predicted math outcome grade 1/2 yrs later
contribute equally
linguistic skills pathway
phonological awareness (knowledge of sound structure) and receptive vocabulary (words understood)
strongest predictor of maths grades: may be used as baseline test
pathways to mathematics
verbal WM
visual WM
linguistics
account for variability in arithmetic (44-79%), word problems (53-61%), number system knowledge (48-64%) and geometry (26-84%)
early intervention for maths skills
domain general interventions for WM and linguistic skills not been proven successful
training quantitative skills better
60% that struggled w maths in kindergarten continued to have difficulty in grade 5
criteria for evaluating early interventions
include children at risk and a comparison group
random assignment
pretest, intermediate post test and delayed post test
developmental dyscalculia
specific impairment of mathematic ability
affects 3.5-6.5%
effects of DD
difficulties with:
number sense - early childhood
sorting objects
recognising patterns/groups
comparing/contrasting magnitude
learning numbers and how to count
matching numbers with amounts
effects of DD - school
difficulty remembering basic maths
understanding whats written
effects of DD - adults
difficulty with more advanced maths
two theories of DD
domain specific - underlying core deficit is a numeral defcitit
domain general - impairment in non-numerical mechanisms
four criteria - specific learning disorder
A - difficulty learning for 6 months - figures, numbers, calculations
b - skills lower than expected for age - interfere with daily living. confirmed using standardised measurements
c - difficulties begin during school
d not better explained by other factors
symptoms of DD
slow to develop basic skills
frustration
struggle with time
poor sense of direction
poor LTM
difficulty playing strategy games/keeping score
DSM-5 of DD
disorder manifested in learning difficulties - lasts for at least 6 months
dropped the use of IQ discrepancy criterion (difficulties didn’t differ depending on IQ level)
comorbidity of developmental dyscalculia and other learning disorders
1/2 to 2/3 comorbid
with e.g. ADHD, motor deficits
reasons unclear
implication = less able to use compensatory mechanisms due to other deficits
domain specific: symbolic processing deficit
access deficit - difficulty accessing numerical magnitude representations from symbols
longer response time for symbolic comparison (e.g. 5 and 9 - which is more?)
smaller/ absent size congruity in DD and make more mistakes - magnitude comparison
domains specific: approximate number system deficit
deficit in system responsible for processing numerical magnitude information
deficits processing large non symbolic information and magnitude
children with maths learning disability had poorer ANS acuity
problem: several studies fail to find ANS deficit in children with DD
domain general: working memory
deficits in visuospatial working memory at behavioural and neural level in DD
domain general: attentional/executive deficits
inhibition and shifting impaired in DD
mathematics anxiety
anxiety that appears with the manipulation of numbers in ordinary life and academic situations
appears with and without general anxiety
up to 2/3s of variance might be unexplained by test anxiety
can lead to global avoidance
may be present form as young as 6 years old
diagnosing maths anxiety
no formal diagnosis
many people wouldn’t meet criteria for normal anxiety
measuring maths anxiety
rely on self-report questionnaires
mathematics anxiety rating scale - 98 items (adapted to different ages)
MARS-A - adults
MARS-E -4/6th grade
MAQ - 6-9yrs
SEMA - 7-10yrs
maths anxiety and maths achievement
negative correlation
many conflicting studies
maths anxiety - deficit theory
consequence of poor performance = maths anxiety
maths anxiety - debilitating anxiety model
leads to avoiding maths - depletes cognitive resources
anxiety treatment = improved math
maths anxiety - reciprocal theory
bidirectional relaitionship
Higher anxiety = poor performance; poor
performance = higher anxiety
maths anxiety and low working memory
lower verbal short term and working memory scores with high maths anxiety
lower WM capacity
maths anxiety and high working memory
higher cortisol (stress) = poorer performance
more negative impact on math anxiety in this with high WM
cortisol can have positive effect in those without math anxiety and high WM
risk factors for math anxiety
low maths ability and WM
genetics
environmental reasons e.g teachers, expectations
alleviating maths anxiety
systematic desensitisation = gradual exposure while maintaining relaxed state
expressive writing, focused breathing
maths training