Diagnosis Flashcards
1
Q
diagnosing William’s syndrome
A
- physical and cognitive features
- confirmed with a genetic test
–> blood test to identify absence of the ELN (elastin) gene - the lab test used to detect the elastin gene is called fluorescent in situ hybridization(FISH)
- very straightforward
2
Q
Down syndrome: prenatal diagnosis
A
- screening test available between 10-14 weeks of pregnancy
–> typically carried out at the 12 week scan - ‘Combined’ test =
–> blood test (Mother’s 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 of a chromosomal abnormality) - if this test shows a ‘high risk’ then the mother would be offered an amniocentesis to confirm:
–> take a sample of the amniotic fluid
–> voluntary
3
Q
down syndrome: post-natal diagnosis
A
- check physical characteristics
- if unclear, follow up with a blood test
–> check for the presence of an extra chromosome
4
Q
comorbidity (ADHD and Autism)
A
- ADHD and autism frequently co-occur, with comorbidity rates potentially as high as 70/80%
- ADHD is one of the most commonly comorbid conditions with autism
- the previous edition of the DSM (DSM-4, 2000) prohibited dual diagnosis of autism and ADHD
- listed as two separate conditions in the DSM-5, hence why we discuss as two separate conditions throughout these lectures
- many traits associated with ADHD overlap with traits associated with autism
5
Q
diagnosing ADHD
A
- initial referral often made in school (e.g. by SENCO)
–> primary care
(GP, social worker, educational psychologist)
–> secondary Care
(psychiatrist, psychologist working within CAMHS) - diagnosis based on:
–> discussion about behaviour in a range of different settings (e.g. school, home)
–> full developmental and psychiatric history and observer reports
–> assessment of the person’s mental state - screening instruments can be used to supplement diagnosis (but not on their own)
–> Conner’s rating scales
–> strengths and difficulties questionnaire
6
Q
diagnosing ASC (autism)
A
- initial referral often made by parents, school, GP
- referral made to secondary care (e.g. CAMHS)
- autism assessment:
–> detailed questions about parent’s or carer’s concerns and, if appropriate, the child’s or young person’s concerns
–> details of the child’s or young person’s experiences of home life, education and social care
–> a developmental history, focusing on developmental and behavioural features consistent with ICD-10 or DSM-5 criteria
–> a medical history, including prenatal, perinatal and family history, and past and current health conditions
–> a physical examination
7
Q
DSM-5 criteria for ADHD (inattention)
A
- six or more symptoms of inattention for children up to age 16 years
- five or more for adolescents age 17 years and older and adults
- symptoms of inattention have been present for at least 6 months
- they are inappropriate for developmental level
8
Q
DSM-5 criteria for ADHD (hyperactivity and impulsivity)
A
- six or more symptoms of hyperactivity-impulsivity for children up to age 16 years
- five or more for adolescents age 17 years and older and adults
- symptoms of hyperactivity-impulsivity have been present for at least 6 months to an extent that is disruptive and inappropriate for the person’s developmental level
9
Q
DSM-5 criteria for Autism
A
- persistent deficits in social communication and social interaction across multiple contexts
1. socio-emotional reciprocity
2. non-verbal communicative behaviours used for social interaction
3. developing, maintaining and understanding relationships - ALL 3 NEEDED
10
Q
diagnostic criteria for ASD
A
- restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least two of the categories
–> e.g. want for sameness and routine, repetitive behaviour, fixated interests and hyperactivity or hyporeactivity in response to sensory stimuli
11
Q
ADHD diagnosis: standardised tests
A
- The Conner scale for assessing ADHD
–> Questionnaire screening for behaviours associated with ADHD, used as initial evaluation when
ADHD is suspected
–> three forms:
1. one for parents
2. one for teachers
3. self-report to be completed by the child - can be used during follow-up appointments to help doctors and parents monitor how well certain medications or behaviour-modification techniques are working
12
Q
scoring of the Conner scale
A
- psychologist will total the scores from each area of the test
- they will assign the raw scores to the correct age group column within each scale
- the scores are then converted to standardized scores, known as T-scores
13
Q
Standardised Tools Used in the Diagnosis of ASC
A
- autism diagnostic observational schedule (ADOS)
- autism diagnostic inventory (ADI)
- both require formal training before use
14
Q
autism diagnostic observational schedule (ADOS)
A
- semi- Structured Interview
–> give individuals lots of tasks (observe and monitor behaviour) - code interaction for presence / absence of certain key behaviours
–> e.g. eye-contact, reciprocal interaction, turn-taking, imaginative play, non-verbal communication - five modules
1. toddler: 12 – 30 months (no consistent speech)
2. module 1: 31 months and older (no consistent speech)
3. module 2: children any age (not verbally fluent)
4. module 3: children & young adolescents (verbally fluent)
5. module 4: older adolescents & adults (verbally fluent)
15
Q
scoring on the ADOS
A
- each behaviour has its own code
- you add certain codes together to get an overall score for each domain of the DSM-5 criteria
- the participant’s score on the two domains determines if they would be classed as autistic
- raw scores turned into t-scores (standardised)
