PSY2004 S2 W3 Diagnosis Flashcards

(39 cards)

1
Q

What type of diagnosis is for neurodevelopmental conditions?

A

William’s syndrome & Down Syndrome: you either have it or you don’t
ADHD & ASC: spectrum, diagnosis criteria

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2
Q

How to diagnose William’s syndrome?

A

physical and cognitive features
confirmed with a genetic test (blood test to identify absence of the ELN [elastin] gene)
The laboratory test used to detect the elastin gene is called fluorescent in situ hybridization (FISH): noticing physical characteristics associated with William’s syndrome might lead to doing the FISH test

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3
Q

When and How can you diagnosis down syndrome?

A

Prenatal, screening test available between 10-14 weeks of pregnancy. Typically carried out at the 12 week scan.
Combined test: two primary parts
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 change of a chromosomal abnormality)
If this tests shows a high risk then the mother would be offered an amniocentesis to confirm. (take a sample of the amniotic fluid, voluntary)

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4
Q

What is Amniocentesis?

A

A prenatal diagnostic test in which a small amount fo amniotic fluid is removed to determine any genetic abnormality

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5
Q

What is a Post Natal diagnosis of down syndrome?

A

Check physical characteristics. If unclear, follow up with a blood test. Check for the presence of an extra chromosome.

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6
Q

What conditions are trickier to diagnoses?

A

ADHD & Autism

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7
Q

Why is it trickier to diagnosis ADHD and autism?

A

comorbidity
ADHD and autism frequently co-occur, with comorbidity rates potentially as high as 70% (Antshel & Russa, 2019)
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
Nevertheless, worth bearing in mind that many traits associated with ADHD overlap with traits associated with autism

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8
Q

How to diagnosis 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 (child and adolescent mental health service).

Diagnosis based on:
Discussion about behaviour in a range of different settings (e.g. school, home, etc)
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

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9
Q

How do we diagnosis ASC?

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 (consider using an autism-specific tool to gather this information)
A medical history, including prenatal, perinatal and family history, and past and current health conditions
Physical examination

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10
Q

What are the two main diagnostic manuals?

A

Diagnostic and Statistical Manual (currently 5th Edition, DSM-V, published in 2013)
International Classification of Diseases (currently 11th Edition, ICD-11)

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11
Q

What is the DSM-5 Criteria for ADHD?

A

Inattention: 6 or more symptoms of inattention for children up to age 16Y. 5 or more for ado 17Y+ symptoms of inattention have been present for at least 6M.

Hyperactivity and Impulsivity: 6 or more symptoms of hyperactivity-impulsivity for children up to age 16Y, or 5 or more for adolescents age 17Y +: 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.

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12
Q

What are the criteria for innatation (ADHD)?

A
  • Often fails to give close attention to details or makes careless mistakes in schoolwork, at work, or with other activities.
  • Often has trouble holding attention on tasks or play activities.
  • Often does not seem to listen when spoken to directly.
  • Often does not follow through on instructions and fails to finish schoolwork, chores, or duties in the workplace (e.g., loses focus, side-tracked).
  • Often has trouble organizing tasks and activities.
  • Often avoids, dislikes, or is reluctant to do tasks that require mental effort over a long period of time (such as schoolwork or homework).
  • Often loses things necessary for tasks and activities (e.g. school materials, pencils, books, tools, wallets, keys, paperwork, eyeglasses, mobile telephones).
  • Is often easily distracted
  • Is often forgetful in daily activities.
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13
Q

What are the criteria of Hyperactivity and impulsivity?

A
  • Often fidgets with or taps hands or feet, or squirms in seat.
  • Often leaves seat in situations when remaining seated is expected.
  • Often runs about or climbs in situations where it is not appropriate (adolescents or adults may be limited to feeling restless).
  • Often unable to play or take part in leisure activities quietly.
  • Is often “on the go” acting as if “driven by a motor”.
  • Often talks excessively.
  • Often blurts out an answer before a question has been completed.
  • Often has trouble waiting their turn.
  • Often interrupts or intrudes on others (e.g., butts into conversations or games)
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14
Q

What are the DSM-5 Criteria for Autism?

A

Persistent deficits in social communication and social interaction across multiple contexts: Deficit in social-emotional reciprocity, Deficits in nonverbal communicative behaviour and deficit in developing, mainting and understanding relatinoship

Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least two of the following, currently or by history: Stereotyped or repetitive motor movement, insistence on sameness and highly restricted fixated interests and hypoer or hyperactivity to sensory input

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15
Q

What is meant by hyper or hyperactivity to sensory input?

A

Hyper- or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment (e.g. apparent indifference to pain/temperature, adverse response to specific sounds or textures, excessive smelling or touching of objects, visual fascination with lights or movement).

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16
Q

What is meant by stereotyped or repetitive motor movement?

A

Stereotyped or repetitive motor movements, use of objects, or speech (e.g., simple motor stereotypes, lining up toys or flipping objects, echolalia, idiosyncratic phrases).

17
Q

What is meant by insistence on sameness?

A

Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behavior (e.g., extreme distress at small changes, difficulties with transitions, rigid thinking patterns, greeting rituals, need to take same route or eat same food every day).

18
Q

What is meant by highly restricted fixated interests?

A

Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests).

19
Q

What is meant by deficits in social-emotional reciprocity?

A

Deficits in social-emotional reciprocity, ranging, for example, from abnormal social approach and failure of normal back-and-forth conversation; to reduced sharing of interests, emotions, or affect; to failure to initiate or respond to social interactions.

20
Q

What is meant by deficits in nonverbal communicative behaviour?

A

Deficits in nonverbal communicative behaviors used for social interaction, ranging, for example, from poorly integrated verbal and nonverbal communication; to abnormalities in eye contact and body language or deficits in understanding and use of gestures; to a total lack of facial expressions and nonverbal communication.

21
Q

What is meant by deficits in developing, maintaining, and understand relationships?

A

Deficits in developing, maintaining, and understand relationships, ranging, for example, from difficulties adjusting behavior to suit various social contexts; to difficulties in sharing imaginative play or in making friends; to absence of interest in peers.

22
Q

What are standardised tools used in the diagnosis of ADHD?

A

Conners scale for assessing ADHD.
Questionanires screening for behaviours associated with ADHD, used as initial evaluation when ADHD is suspected
3 Forms: 1 for parents, 1 for teachers, 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.

23
Q

How are T-scores made?

A

The 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.

24
Q

What are Autism diagnosed observational scedule?

A

Autism diagnostic observational schedule (ado)

Semi- Structured Interview. Code interaction for presence / absence of certain key behaviours, e.g. eye-contact, reciprocal interaction, turn-taking, imaginative play, non-verbal communication.

Five modules
Toddler: 12 – 30 months (no consistent speech)
Module 1: 31 months + (no consistent speech)
Module 2: Children any age (not verbally fluent)
Module 3: Children & young adolescents (verbally fluent)
Module 4: older adolescents & adults (verbally fluent)

Have to be carried out by a trained person, you need to be certified to be able to do this. You would always have a ADOS, but you need other interviews/observations as well

25
What are standardised tools used in the diagnosis of ASC?
AUTISM DIAGNOSTIC OBSERVATIONAL SCHEDULE (ADOS) AUTISM DIAGNOSTIC INVENTORY (ADI)
26
What are autism diagnostic inventory (ADI)?
Parent / caregiver interview focusing on developmental milestones and social behaviour. Focus on age 4 / 5 Both of these instruments require formal training before use.
27
At what age is ASC typically diagnosed?
ASC is very rarely diagnosed before two years of age. Especially in the UK. Some countries carry out ASC screening, and the youngest age at which a child is diagnosed with ASC is ~ 2 years old. There are a growing number of people being diagnosed with ASC in adulthood.
28
What is ASC Screening?
M-CHAT A questionnaire used for screening toddlers for ASC is the M-CHAT (modified checklist for autism in toddlers). This has been shown to be very useful in children aged between 16 and 36 months in terms of flagging up issues in development. In one study, children who screened positive on the M-CHAT were 114 times more likely to receive an ASC diagnosis than children who screened negative.
29
What is the limit of the M-CHAT?
However, while the M-CHAT is useful for screening for possible “red-flags” in development, it is not particularly sensitive for detecting ONLY autism, in this age group. E.G: it also picks up cases of children who may have developmental delay, but not necessarily ASC. For this reason, researchers who are aiming to develop tools for early-identification of ASC, have started to study the “infant-siblings” of older children with a diagnosis of ASC.
30
What is the Infant siblings approach?
ASC diagnosis typically made at around 4 years old (but can be a lot later). Because of the genetic association with ASC, there is an increased chance (1 in 5) that a child with an older sibling who has a diagnosis of ASC will also go on to be diagnosed with ASC. Therefore, looking for early markers for ASC in these children is considered a fruitful approach.
31
What are techniques for early detection?
Three methodologies used in the infants-sibs approach * Functional Near Infrared Spectroscopy (fNIRS) * Electroencephalogram (EEG] * Eye-tracking
32
What is Functional Near Infrared Spectroscopy (fNIRS)?
Optical Imaging Method (like a fit-bit measuring your heart-beat). Shine light in, measure light coming out. Light that doesn’t exit the cortex has been absorbed. The main absorber of near-infrared light is haemoglobin. Therefore shining in near-infrared light allows us to measure haemoglobin. Measuring absorption can tell us about blood flow. Oxygen is delivered to neurons by haemoglobin in capillary red blood cells. More haemoglobin present in areas of the brain when it needs to replenish the oxygen used by active neurons.
33
How is fNIRS used to investigate early markers of ASC?
Recruited infants between 4-6 months of age: Infant siblings of an older child with ASC (increased chance of having ASC) Infant siblings of an older child without ASC (lower chance of having ASC) Showed videos of social and non-social stimuli. The infants with a higher chance of having ASC were found to show reduced activity over temporal cortex in response to social stimuli compared to infants with reduced chance of ASC.
34
What are electroencephalography? | EEG
EEG measures electrical signals generated by the brain through electrodes placed at the scalp EEG signals are produced by cortical field activity and are measured as changes in voltage, recorded at the scalp, over time. Analysis of EEG signals may be task dependent or task independent EEG data can be analysed in many different ways. Connectivity between different brain regions (coherence)
35
What's eye tracking?
Difference in looking behaviour (measured with eye-trackers) in toddlers with a diagnosis of ASC (identified during an earlier screening study). Majority of neurotypical toddlers spent more time looking at the social videos than the geometric patterns. Some of the toddlers with ASC spent more time looking at the geometric videos. “If a toddler spent more than 69% of his or her time fixating on geometric patterns, then the positive predictive value for accurately classifying that toddler as having an ASD was 100%.” | ct
36
What are Challenges of the infant-sibs/early detection approach?
While differences can be seen at a group-level, the work has not yet yielded clear biomarkers that are useful at an individual level. Most of the studies do not follow up the ‘at-risk’ infants in order to confirm whether or not they do receive a later ASC diagnosis. Therefore, group differences between high and low risk infants could be reflecting the “broader autism phenotype” rather than specific biomarkers for autism. ASC is a very heterogeneous condition, and there is a lot of individual variability in the way that ASC is expressed. Therefore, aiming to identify a single neural or behavioural construct that can classify ASC is a difficult (impossible?) challenge.
37
Why is there an increase in ASC?
Greater Awareness Reduction of stigma Evolution of diagnostic criteria / diagnostic substitution Environmental Factors (?)
38
What are diagnostic substitution?
Children who would now meet the diagnostic criteria for ASC, were previously diagnosed with other conditions, e.g. language disorders. Evidence of diagnostic substitution This shift is a direct result of changes in diagnostic criteria from DSM-III through DSM-IIIR and DSM-IV. 1. PTT from previous studies on language (1986-2003) were re-contacted to take part in a new study (in 2008). 2. Original studies: 0 PTT had a diagnosis of ASC, but they all had a diagnosis of either specific language impairment (SLI) or pragmatic language impairment (PLI). 3. During the new study, the participants were tested for ASC using the ADOS and the ADI. 4. 11/20 PTT with a diagnosis of SLI, and 2/18 participants with a diagnosis of PLI met criteria for ASC on both the ADOS and the ADI.
39
What did Bishop et al. 2008 find? | Reading
Parents often gave highly specific e.g. of behaviours that could lead to a clear coding of abnormality on ADI-R, despite the fact nobody discussed autism diagnosis. Specific developmental language disorder: diagnostic substitution seems plausible. Because: Communication problems core feature of autism, diagnostic boundaries between autism and language disorder, autism increasingly being recognized in children with normal IQ. It be rash to conclude increasing prevalence of autism is due to broadening diagnostic criteria. But secular changes in diagnostic concept and clinical awareness have led to diagnostic reassignment from language disorder to autistic disorder. Similar reasons for children who were regarded as having learning disability or ADHD.