atypical 3 - diagnosis Flashcards
diagnosing William’s syndrome
physical and cognitive features
cause = deletion at 11.2 - impacts ELN gene
use genetic test - blood test for ELN gene (elastin)
test = fluorescent in situ hybridization (FISH) - detects ELN gene
diagnosing down syndrome prenatally (2)
in week 10-14 of pregnancy (12 week scan)
offered a combined test:
- blood test - maternal blood contains DNA from foetus
- nuchal translucency scan - checks build of fluid at back of baby’s neck - larger = greater chance of chromosomal abnormality
finding high risk = mother offered amniocentesis to confirm - voluntary, take sample of amniotic fluid to test
diagnosing down syndrome postnatally
physical characteristic check
can follow up with blood test - presence of extra chromosome
comorbidity of ASD and ADHD
potential 70% comorbidity between ADHD and ASD - many overlapping traits
ADHD is one of most commonly comorbid conditions with ASD
DSM-IV (2000) - prohibited dual diagnosis of ADHD and ASD
DSM-V (2013) - two separate conditions
diagnosing ADHD: referral, care levels, screening
referral often by school (SENCO) to:
- primary care - GP / social worker / educational psychologist
- secondary care - psychiatrist / CAMHS psychologist
base diagnosis on:
- behaviour in different settings
- developmental and psychiatric history and observer reports
- asses mental state - comorbid with anxiety
screening instruments - supplement diagnosis:
- conner’s rating scales
- strengths and difficulties questionnaire
diagnosing ASC
ASC and ASD are often used interchangeably
referral by parents / school / GP
referral to secondary care - e.g. CAMHS
autism assessment:
- questions about parent/carer concerns - can also be child / young persons concerns
- details of experience of home life, education, social care, developmental history - focussing on ones in line with ICD-X or DSM-V#
- medical history - prenatal, perinatal + family history, past + current health
- physical examination
2 diagnostic manuals
DSM-V (2013) - diagnostic and statistical menual (5th edition)
ICD-XI - international classification of diseases (11th edition)
DSM-V ADHD criteria - inattention symptoms
6 or more symptoms for <16 y/o
5 or more symptoms for >17 y/o
symptoms for at least 6 months which are inappropriate for developmental level
symptom examples:
- lack close attention to details
- careless mistakes
- trouble holding attention on tasks
- doesn’t seem to listen when directly spoken to
- no follow through on instructions e.g. school, chores, work duties
- trouble organising tasks and activities
- avoids / dislikes / reluctant to do mental effort tasks over long time periods (e.g. homework)
- loses things
- easily distracted
- forgetful in daily activities
DSM-V ADHD criteria - hyperactivity and impulsivity symptoms
6 or more symptoms for <16 y/o
5 or more symptoms for >17 y/o
symptoms for at least 6 months which are inappropriate for developmental level
- fidgeting
- doesn’t remain seated when should
- feel restless
- cannot play quietly
- driven by motor - on the go
- excessive talking
- says answer before question finished
- can’t wait their turn
- interrupts others
DSM-V criteria for ASD - social communication deficits (3)
Persistent deficits in social communication and social interaction across multiple contexts:
- socio-emotional reciprocity deficits
- non-verbal communicative deficits
- developing, maintaining + understanding relationships deficits
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.
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.
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.
have to show from all 3 of these categories
DSM-V criteria for ASD - restricted, repetitive patterns of behaviour
at least two of these:
- stereotyped/repetitive motor movements, use of objects, or speech
- insistent on sameness, inflexible with routine, ritualized verbal and non-verbal behaviour
- highly restricted, fixated interests that are abnormal in intensity or focus
- hyper or hypo - reactivity to sensory inputs
Stereotyped or repetitive motor movements, use of objects, or speech (e.g., simple motor stereotypes, lining up toys or flipping objects, echolalia, idiosyncratic phrases).
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).
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).
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).
standardised tool for ADHD diagnosis
Conner’s scale
questionnaire, used as initial evaluation
likert scale - 0-3
3 forms - for parents, teachers, and self-report from child
t-score calculated from results - standardised
can be used also in follow-up to monitor how medication/intervention are helping
standardised tool for ASD diagnosis - ADOS
autism diagnostic observational schedule (ADOS)
- semi-structured interview
- very interactive tasks for individuals - monitor behaviour
- for presence/absence of key behaviours e.g. eye-contact, reciprocal interaction, turn-taking, imaginative play, non-verbal communication
5 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)
becomes more question based with older age - unless person is not verbally fluent - then go to module 2 regardless of age
need formal training for this - costs money to complete to - due to subjectivity so guidelines need to be maintained
standardised tool for ASD diagnosis - ADI
autism diagnostic inventory (ADI)
- parent / caregiver interview focusing on developmental milestones and social behaviour
- focus on age 4 / 5
need formal training - costs money to complete too
at what age is ASD typically diagnosed
mean ages:
autism:
diagnosis = 5.5 years
parents first concerns = 18 months
aspergers:
diagnosis = 11 years
parents first concerns = 30 months
(based on sample of 614 parents of kids with autism and 158 of kids with aspergers)
ASD is rarely diagnosed before age 2 - especially in UK - even in other countries with screening
growing numbers diagnosed in adulthood
