Autism spectrum Disorder Flashcards

1
Q

What is the ICD-11 definition of autism?

A

– deficits in the ability to initiate and to sustain reciprocal social interaction & social communication
–restricted, repetitive, and inflexible patterns of behaviour and interests

Sub-categories are based on intellectual ability and language:
* Without disorder of intellectual development
* With disorder of intellectual development

Functional language is:
* Mildly impaired, or no impairment
* Moderate impairment
* Absent

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2
Q

Facts about autism?

A

Disorder/condition, rather than disease

Neurodevelopmental disorder, present from very early stages of life

–Lifelong condition
–“Treatments” and “cures” are non-existent/controversial, but there are several therapies/ support that can help people with ASD
function in everyday life
–Also several comorbid conditions that may require some degree of
treatment

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3
Q

Common signs of autism:

A

– Difficulties in communication & social interaction (understanding
peoples thoughts, feelings, motives)
– Sensory processing issues (bright lights, loud noises, touch)
– Restrictive interests and/or repetitive movements
– Heightened anxiety (unfamiliar environments/ social events)
– Can include learning/intellectual disability

It is a spectrum disorder, so people will present with a wide range of symptoms from severe deficits to absent/barely noticeable

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4
Q

Asperger’s Syndrome

A

Asperger’s falls within the ASD criteria for both ICD-11 and DSM-V

Asperger’s is effectively the ‘milder end’ of ASD
* Without intellectual or language deficits
* Deficits in social interaction, behaviour, and language
comprehension

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5
Q

Common signs of autism

A

Signs of autism in young children include:
–not responding to their name
–avoiding eye contact
–not smiling when you smile at them
–getting very upset if they do not like a certain taste, smell or sound
–repetitive movements, such as flapping their hands, flicking their
fingers or rocking their body
–not talking as much as other children
–repeating the same phrases

Signs of autism in older children include:
–not seeming to understand what others are thinking or feeling
–finding it hard to say how they feel
–liking a strict daily routine and getting very upset if it changes
–having a very keen interest in certain subjects or activities
–getting very upset if you ask them to do something
–finding it hard to make friends or preferring to be on their own
–taking things very literally – for example, they may not understand
phrases like “break a leg”

Common signs of autism in adults include:
–finding it hard to understand what others are thinking or feeling
–getting very anxious about social situations
–finding it hard to make friends or preferring to be on your own
–seeming blunt, rude or not interested in others without meaning to
–finding it hard to say how you feel
–taking things very literally – for example, you may not understand
sarcasm or phrases like “break a leg”
–having the same routine every day and getting very anxious if it
changes

Further signs may include:
–not understanding social “rules”, such as not talking over people
–avoiding eye contact
–getting too close to other people, or getting very upset if someone
touches or gets too close to you
–noticing small details, patterns, smells or sounds that others do not
–having a very keen interest in certain subjects or activities
–liking to plan things carefully before doing them

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6
Q

Restrictive behaviours/strict routine

A

An example of restricted behaviours: 14 year old will only drink from one very specific cup

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7
Q

Restrictive interests

A

– People with ASD may develop highly focused interests
– Can be focused on a variety of things, such as music, art,
computers, trains, numbers, postcodes, etc.
– May be general interest, or collecting items
– This can be healthy, in that it gives a focus, something they are
comfortable with, to help them relax and feel happy

– Can be unhealthy if it becomes an obsession
* Unable to stop
* Distressed when trying to resist the behaviour
* Having a significant negative impact on the person or their
family

E.g. Trains
–Darius McCollum
–Diagnosed with Asperger’s syndrome
–Fascinated by trains/public transport
–Repeatedly stole NYC subway trains & buses

UFO’s
–Gary McKinnon
–Was obsessed with looking for evidence of UFOs
–Hacked US government computer systems
–”I almost wanted to be caught, because it was ruining me”
–Diagnosed with Asperger’s syndrome during extradition trial

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8
Q

Repetitive movements

A

– Can include:
* arm/hand flapping
* tapping fingers
* rocking
* banging head
* jumping
* spinning

– Called “stimming” – self-stimulating behaviour

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9
Q

Movement/coordination issues

A

–People with ASD may have issues with motor skills/coordination
–Depending on severity, this can be diagnosed as developmental
coordination disorder (dyspraxia)

“Teachers pointed out fine motor problems. He also struggled learning to go up & downstairs & was still going one step at a time, two feet to each step, long after he started school. He couldn’t (and in fact still can’t) ride a bike, do buttons or zips (still the case with zips) and his throwing & catching skills were (and still are) significantly behind his peers.”

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10
Q

Sensory Processing

A

–Heightened or dampened response to sensory input
–Can include visual, auditory, taste, touch, and pain
–“Paradox of pain in autism. On the one hand, some people with autism can tolerate extreme heat, cold or pressure and seem relatively insensitive to pain. On the other hand, they may experience intense pain from idiosyncratic sources but struggle to communicate it.”

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11
Q

Speech

A

– Speech development may be delayed, within normal range, or even
appear advanced, or they may remain non-verbal
– Echolalia – repetition without meaning
– Pronoun reversal – e.g. referring to other people as ‘I’, referring to
themselves as ‘you’
– Unusual prosody (rhythm, tone, inflection)
– “It’s masked alot as her speech is ahead for her age but her
understanding isn’t as good as it should be for her age.”
– “At that age the 3 things that really struck me were not responding
to his name, not pointing, & not waving. He also did not speak.”

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12
Q

Meltdowns

A

Looks like a massive tantrum, but there is a difference

Tantrum:
* Is goal-orientated
* Needs an audience
* Will normally reduce as the child grows up

Meltdown is due to sensory, emotional, and informational overload
* Won’t be stopped by reassurance, distraction, bribes, etc.
* Can be anticipated and/or minimised
* Identify/minimise triggers
* Look for early warning signs

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13
Q

Pathological demand avoidance (PDA)

A

–Can be considered part of ASD, but does appear distinct from general

Autism/Asperger’s:

–Avoid demands and expectations to an extreme extent
–Can appear excessively controlling and dominating
–May appear relatively sociable, but still with deficits
–Averse to deviations to normal routine
–Might use social strategies (distracting, excuses) to avoid demands

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14
Q

ASD in females

A

– ASD is more common in males (approx. 3:1)
– Gender/hormone differences might male males more prone to ASD
– ASD impairments in females may be under-recognized
– Females may be better at masking symptoms
– Phenotype may be different in females
– Diagnostic tests are designed to identify ASD in males

From Emma, speech therapist:
–“There’s lots of information emerging about the presentation of ASD
in females. My own experience is reflected in the research,
especially relating to how females mask much more than males, &
also experience higher levels of anxiety.”

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15
Q

Symptoms

A

“He was obsessed by traffic lights. Failure to follow certain routines
caused a crisis. He was more upset by a commercial that showed a car being crushed than he would have been if another human being had been injured. Pain just didn’t register - even when he had a burn that was bad enough to go to A&E with there was no reaction. He was very easy to wean - he ate anything and everything - and then one day would only eat white foods.”

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16
Q

Diagnosis

A

1st point of contact may be:
- GP
- Health visitor
- Special educational needs staff (SENCO)
- The autism act 2009 requires every NHS trust to provide a
diagnostic pathway
- This can be in house, or the CCG can commission this via the charity
sector

  • Autism assessment will be multidisciplinary
  • Will involve interaction with the individual, interview with the
    parent/caregiver, and information from school/work settings
  • Co-existing conditions need to be considered
  • There are various standardised assessment protocols that can be
    followed, such as:
  • ESAT – early screening for autistic traits (14 months)
  • M-CHAT – Modified checklist for autism in toddlers (16-30 months)
  • DISCO – Diagnostic interview for social and communication
    disorders (all ages)
  • Various tests for different age groups
  • Part of the wider assessment
  • Diagnosis can help in several ways
  • Helps to understand the needs of the individual
  • Access to support for the individual and their family
  • It can take a long time to get a diagnosis (average 30 weeks)
  • NICE guidance says target should be 13 weeks
  • Assessment may be fast-tracked if a sibling also has ASD
  • Private assessments are available, but local authority might not
    accept the result
17
Q

Clinical Psychologist

A

–Provide a NICE compliant diagnostic assessment of need and autism
symptomology.

–Includes assessment of
* developmental history
* cognitive functioning
* daily functioning
* sensory processing
* mental health and wellbeing

–Required to consider alternative explanations for client presentation
(trauma, head injury, substance misuse)
–Recommendations will include appropriate autism based interventions & specific adaptions needed for an individual to be able to access traditional treatment programs
–Training and consultation to others within the MDT regarding treatment approaches

18
Q

Occupational Therapist

A

–Trained to recognise the functional impact of health conditions on the
everyday living activities
–Seek to minimise these impacts
–Compensatory strategies such as adapting the problematic activity or in
providing aids and adaptations
–Providing information to patients and carers alike to maximise
independence in the participation of everyday life
–Formulates Sensory Processing Profiles and in providing advice in
strategies designed to manage and cope with these sensory processing
difficulties
–“Occupational Therapists with other Health Professionals use
psychosocial strategies to manage and cope with ASC difficulties and
differences which are recommended by the NICE Guidelines as first
resort as medication is not known to be as beneficial in most cases”

19
Q

Speech Therapist

A

–Involved in both the diagnosis and treatment of children with ASD
–Assessment to cover:
* Comprehension of language
* Verbal Expression
* Play skills – asking children to make up a story with random
objects, asking children to make something out of different
shapes, object substitution task (pretending that it is something
else such as hairbrush, biscuit etc)
* Pragmatic skills – Understanding of idioms, implied meaning,
emotions, empathy, and social situations.
* Use of non-verbal skills such as eye contact, joint attention, gesture, and tone of voice

SALT – Speech and Language Therapy

20
Q

Dieticians

A

–Dieticians may be involved in managing ASD
–Restrictive eating behaviours can result in nutritional deficiency
–GI issues are common in ASD

21
Q

Comorbidities

A
  • ADHD
  • OCD
  • Anxiety
  • Depression
  • Bipolar disorder
  • Schizophrenia
  • Epilepsy
  • Insomnia
  • Dietary issues – overeating, restrictive eating, pica
  • Dyslexia
  • Dyspraxia
  • Learning disabilities
  • Gastrointestinal issues
  • Hyperflexible or painful joints
  • Stretchy & easily bruised skin
  • These disorders do NOT form part of the diagnosis of ASD, but are
    more common in ASD than in the general population.
  • ADHD in 30-60% of ASD cases (6-7% in general population)
  • Anxiety 10-40%
  • Depression <10% of childhood cases, approx. 25% adult cases
  • Schizophrenia 5-35%
  • Bipolar 5-25%
  • Epilepsy 20-33% (compared 1-2% in general population)
  • 8x more likely to have a chronic GI condition
  • Sleep disorders in over 50% of ASD cases
  • Dietary issues 70%
22
Q

Autism Risk Factors

A

–Heritability estimated at around 80%
–Around 1000 genes have been associated with ASD
* 135 with strong evidence supporting
–Siblings have approx. 10% chance of also having ASD
–Advanced parental age
–Gestational diabetes
–Maternal medication

Vaccines
–Position statement from National Autistic Society:
“The National Autistic Society is clear that there is no link between autism
and the MMR vaccine.”

“We believe that no further attention or research funding should be
unnecessarily directed towards examining a link that has already been
comprehensively discredited. Instead, we should be focusing our efforts
on improving the lives of the 700,000 autistic people in the UK, and their
families.”

23
Q

Fragile X Syndrome

A

–Affects around 1/4000 males, 1/6000 females
–A leading known genetic cause of ASD
–Approx. 1/3 with Fragile X also have autism
–Caused by a CGG repeat in Fragile X Mental Retardation 1 (FMR1)
–Normally there are around 50 CGG repeats
–In Fragile X there are over 200 repeats
–FMR1 is involved in synaptic maturation and plasticity

24
Q

Autism Risk Factors

A

Neurexin - NRXN1
–Presynaptic transmembrane protein
–Binds neuroligins
–Required for synaptic transmission and synaptic development
–Multiple NRXN1 variations associated with ASD

Neuroligins – NLGN3, NLGN4
–There are 5 human neuroligins
–Several variations in NLGN3 and NLGN4 implicated in ASD
–Postsynaptic transmembrane protein
–Involved in synaptic transmission and development

SHANK3
–Postsynaptic scaffolding protein
–Supports synaptic function
–Connects various postsynaptic proteins
–Involved in formation/maturation of dendritic spines

SYNGAP1
–Associated with ASD, intellectual disability, and epilepsy
–Part of the postsynaptic density
–Associated with NMDA receptors
–Functions include roles in synaptic plasticity and intracellular signalling

Fragile X Mental Retardation 1 - FMR1
* Role in mRNA trafficking & translation
* Associated with ASD – syndromic and non-syndromic
* CYFIP1, also associated with ASD, forms a complex with FMR1

Tuberous Sclerosis 1 and 2 - TSC1/2
* Tumour suppressor genes

Phosphatase and tensin homologue – PTEN
* Tumour suppressor gene
* Inhibits Akt pathway
* Regulates cell growth, migration

slide 46 diagram

25
Q

Neurobiology

A

– As ASD is highly variable, so are the results of neuroimaging studies
– Increased brain volume, particularly in early childhood
* Diminishes in later childhood
– Amygdala particularly implicated, with degree of enlargement
correlating with severity of symptoms
–Increased volume of caudate nucleus associated with repetitive
behaviours
– Reduced size of corpus callosum
– fMRI implicates abnormal function of
* Medial prefrontal cortex
* Orbitofrontal cortex
* Amygdala
* Fusiform gyrus
* Superior temporal sulcus
– All have functions related to social functioning

26
Q

Savant Syndrome

A

– Savant syndrome is where someone with a mental disability has “an
island of genius”
– This is an interesting phenomenon, but it is NOT a core feature of ASD
– Estimates range from 10% to 0.5% of people with autism have some degree of savant ability
– Can be memory, mathematical, musical, artistic
– Calendar savant is among the more common