PSY2004 SEMESTER 2 - WEEK 3 Flashcards
how is william’s syndrome diagnosed
physical, cognitive feature, confirmed with genetic blood test (FISH- fluorescent in situ hybridisation) to identify absence of ELN (elastin) gene
how is DS diagnosed - prenatal
screening test 10-14 weeks (during 12 week scan)
combined test of blood (containing DNA from foetus in mothers bloods) and nuchal translucency scan
what is nuchal translucency scan
check build of fluid at back of neck, larger has greater chance of chromosomal abnormality
when is DS mother offered amniocentesises
if test shows high risk, offered to confirm using voluntary sample of amniotic fluid, containing DNAs
how can DS be diagnosed - postnatal
check physical characteristic - if unclear, follow up with blood test (checking presence for a extra chromosome)
what is comorbidity between ADHD, + autism
70%
compare DSM-4, DSM-5 on ADHD & autism comorbidity
DSM-4, prohibited dual diagnosis but DSM-5 = 2 seperate conditions
however traits highly overlaps
how is ADHD diagnosed (primary/secondary care)
primary care- GP, social worker, educat psych
secondary care- psychiatrist, psychologist in CAMHS
what is ADHD diagnosis based on
behaviours in range of different settings
full developmental/psychiatric histories + observer reports
assessment of person’s mental state
screening instruments can supplement (not alone)
name 2 ADHD screening instrument
Conner’s rating scales
strengths and difficulties questionnaire
in DSM-5, what is needed in inattention section for ADHD, and in hyperactivity+impulsivity section
6+ symptom up to age 16, 5+ in age 17 and older, present 6months+ and inappropriate for developmental level
in DSM-5, give some inattention symptoms - ADHD
fail close attention, careless mistake
trouble holding attention
don’t listen
doesn’t follow isntructions
trouble organising
avoid tasks that requiring mental efforts
loses things
easily distracted
forgetful in daily activity
in DSM-5, give some symptoms for hyperactivity+impulsivity - ADHD
fidget lots
leaves seats
runs/climbs
unable to play quiet
often on go, “driven by motor”
talk excessively
blurt out answer
trouble waiting turn
interrupting
what is Conner’s scale
questionnaire screening for behaviours, initial evaluation if ADHD suspected and follow-up to help monitor medication or behaviour modifications working
1 for parents, teachers, self report
what are components of Conner’s scale
allocated to different areas=
inattention, hyperactivity/impulsivity, learning problems, executive functioning, defiance/aggression, peer relations
how may clinician score Conners scale
total score from each subsection then assign raw scores to correct age group column within each scale, then converted to a standardised “Tscore”
what does an ASD assessment include
questions about parent/carer concern, home life, education, social care and development history, medical history (pre/perinatal, family history, past/current health), physical examination
ASD in DSM-5 “persistent deficit in social communication and social interaction in multiple contx”, what 3 must individuals meet?
- socio-emotional reciprocity eg; failing back-forth combo, reduced sharing of interest/emotions, failure initiates/respond to social interactions
- nonverbal communicative behaviour in soc interactions eg; poorly integrated verbal and nonverbal communication, eye-contact, body language, using gestures, lacking facial expres
- developing, maintaining, understanding relationships eg; difficulty adjusting beh in social context, sharing play, making friend
in ASD diagnosing ‘restricted, repetitive patterns of behaviour, interests/activity’ name 2 that an individual has to meet?
- stereotype/repetitive motor movement, use of object, speech
- insisting sameness, inflexible adherence routine, ritualised patterns of verbal/non behaviour
- highly restricted, fixated interests abnormal intensitiy/focus
- hyper/hyporeactivity of sensory inputs; indifference to pain, adverse resopnse to specific sounds/texture, excessive smelling/touching object and fascination with light
name 2 standardised tools used for ASC
Autism Diagnostic Observational Schedule
Autism Diagnostic Inventory
summarise autism diagnostic observational schedule
series of tasks, coded in ‘semi-structured’ interview
coded interactions for absence/presence certain key behaviour
5 modules
name the 5 modules in autism diagnostic observational schedule
- toddler: 12-30 months, with no consistent speech)
- module 1: 31 months+ with no consistent speech
- module 2: children any age, are not verbally fluent
- module 3: children and young adolescents, who are verbally fluent
- module 4: older adolescents, adult, who are verbally fluent
summarise autism diagnostic inventory
parent interviews, focused on development milestones, social behaviour
focus on age 4/5
what is average age of ASC diagnos
5.5
parental concern = 18month
what is M-CHAT method in ASC screening
questionnaire, toddler, modified checklist, used in 16-36months to flag issues in development
if screened positive are 114x more likely diagnosed
why is M-CHAT not always helpful
picks up cases of children with developmental delays but not ASC
what is infant sibling approach for ASC
ASC diagnosis usually age 4
increased chance of 1 in 5 of child with older sibling with diagnosis also being diagnosed as ASC
name 3 potential technique of early detection
functional near infrared spectroscopy (fNIRS)
electroencephalogram (EEG)
eye-tracking
what is fNIRS (functional near infrared spectroscopy)
similar to fMRI but instead with light, optical imaging method in skull-cap, shine in light and measure coming out
light not exiting cortex is absorbed
haemoglobin= main absorber so allows measurement and blood flow = active
outline what Lloyd-Fox (2013) found using fNIRS in 4-6month infants for ASC early biomarkers
infants at high sibling risk showed reduced temporal cortex responses to social stimuli
what is limitation for fNIRS
cannot get as deep into brain as fMRI= only on cortex
summarise EEG for biomarkers
measure electric signals produced by cortical field activities, measured as change in voltage/time
task dependent/independent and studies coherence- connectivity between different areas of brain
what did Rhiai (2014) find using EEG as biomarker
no difference at 6 months between low/high risk infants but at 12 months, high risk has lower coherence
what did Pierce (2011) ASC eye-tracking in toddlers with diagnosed
neurotypical spend more time looking at social video>geometric, but some toddlers with ASC spend more time with geometrics
if toddler spent 69% time looking at pattern, positive predictor value of accurate classified ASC = 100%
give challenges of infant-sibs/early detection approach
- although group level difference have been seen, at an individual level isn’t yet clear
- most study don’t follow up at risk infants to confirm if receiving ASC diagnosis, so group differences between high/low risk infants could reflect broader autism phenotype but not a specific biomarker of ASC
- ASC is very heterogenous condition, lots of individual variation in ASC expression, so aiming to identify single neural/behavioural construct to classify ASC is v difficult
summarise prevalence of ADHD and ASC, Bugha (2011)
many households completing autism screening, many eligible for ftf evaluation, and 9.8/1000 (rough 1/100) meeting diagnostic criteria autism
for ADHD- name reasons why prevalence actually higher
- environmental factors: SES, exposure to lead
- prenatal risk factors: premature birth, exposure to tobacco
for ADHD- name reasons why prevalence is not actually higher, but more diangosed
- better recognition in female
- greater awareness
- reducing stigmas
apply diagnostic substitution with ASC
diagnostic substitution: now meeting criteria for ASC, past diagnosed as other conditions, ie language disorder
summarise what Bishop found regarding ASC and diagnostic substitution adult
- 11 of SLI ASC, 2 of PLI (pragmatic-language impairment) ASC
- DSM-3 stricter criteria meaning not met, and some research suggests as there is rising cases of autism, less people are diagnosed with DLD
- parental report shows symptoms from age 4-5, with vivid and specific example meeting criteria
- reasons why different diagnosis: children not problematic in behaviour for parent and just exhibited “odd behaviours”, children were communicative when DSM-3 diagnosis needed a lack of responsiveness to others for diagnosing
