Diagnosis

Question 1

William’s syndrome

Answer 1

Genetic causes
Deletion at 7q11.2
Confirmed with a genetic test
Blood test to identify absence of the ELN (elastin) gene
The test used to detect the elastin gene is called fluorescent in situ hybridisation (FISH)
Physical and cognitive features

Question 2

Down syndrome

Answer 2

Caused by duplication of chromosome 21
Combined test at around 12 week scan
Blood test (mothers blood contains DNA from the foetus)
Nuchal translucency scan- checks the build of fluid at the back of the baby’s neck, the larger it is the greater the chance if a chromosomal abnormality
If the test shows a high risk then the mother would be offered an amniocentesis to confirm

Question 3

Comorbidity

Answer 3

ADHD and autism comorbid rate- 70%

Question 4

ADHD

Answer 4

Inattention symptoms- 6 or more symptoms for under 16 year olds, 5 or more for age 17 and above
same for hyperactive impulsive symptoms
For 6 months

Question 5

Autism

Answer 5

Persistent deficits in social communication and social interaction across multiple contexts
Deficits in:
Social-emotional reciprocity
Non-verbal communicative behaviours
Developing, maintaining, and understanding relationships

Restricted, repetitive patterns of behaviour, interest, or activities, as manifested by at least two of the following
Liking a routine
Repetitive motor movements
Hyper-fixations
Hyperactive or hypoactive sensitivity

Question 6

Standardised tests

Answer 6

Conners scale for ADHD
Questionnaire screening for behaviours associated with ADHD, used as an individual evaluation
One for parents
Teachers
Self-report

Question 7

Autism

Answer 7

Autism diagnostic observational schedule (ADOS)
Semi-structured interview- interactive

Autism diagnosis inventory (ADI)
Interview- parent interview focusing on developmental milestones and social behaviour

Question 8

What age is autism diagnoses

Answer 8

Rarely diagnosed before 2 years old
Diagnoses comes a lot after parents first concerns

Question 9

M-CHAT

Answer 9

Flags up issues in development

Question 10

Early identification

Answer 10

If your sibling has autism your have a 1 in 5 chance of also having it
So looking at siblings of people with autism help determine the early signs of autism before diagnosis

Question 11

Functional near infrared spectroscopy (fNIRS)

Answer 11

Optical imaging method
Shine light in, measure light coming out. Light that doesn’t exist in the cortex has been absorbed.
Main absorber of near-infrared light is haemoglobin. Therefore shining in near-infrared light allows us to measure haemoglobin
More haemoglobin present in areas of the brain that are active
Infants with higher chance of ASC showed reduced activity in the temporal cortex in response to social stimuli

Question 12

EEG

Answer 12

Measures electrical signals
Recorded as changes in voltage
Coherence- connectivity between brain regions
At 12 months, low risk group had higher coherence