[13] Autism Flashcards

1
Q

What is autism?

A

Autism is a pervasive developmental disorder

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2
Q

What is autism characterised by?

A
  • Impairment in social interaction
  • Impairment in communication
  • Restricted, stereotyped interests and behaviours
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3
Q

What can the aetiology of autism be divided into?

A
  • Prenatal
  • Antenatal
  • Postnatal
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4
Q

What are the pre-natal factors in the development of autism?

A
  • Genetics
  • Parental age
  • Drugs
  • Infection
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5
Q

What is the role of genetics in the development of autism?

A

There is a complex polygenetic relationship, with a number of chromosomes implicated, such as chromosome 7

There is a significantly increased risk of autism associated with genetic syndromes such as fragile X syndrome and tuberous sclerosis

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6
Q

How is parental age involved in the development of autism?

A

A study found that women who are 40 years old have a 50% greater chance of having a child with autism compared with women 20-29 years

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7
Q

How are pre-natal drugs involved in the development of autism?

A

Babies who have been exposed to certain medications in the womb have a greater risk of developing autism, including sodium valproate in particular

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8
Q

How is pre-natal infection involved in the development of autism?

A

Prenatal viral infections, e.g. rubella, increase the risk of autism

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9
Q

What are the antenatal factors in the developmen of autism?

A
  • Obstetic complications such as hypoxia during childbith
  • Reduced gestational age at birth (before 35 weeks gestation)
  • Very low birthweight
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10
Q

What postnatal factors are involved in the development of autism?

A
  • Toxins such as lead and mercury may increase the risk of autism
  • Pesticide exposure may affect those genetically predisposed to autism
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11
Q

What % of the population are affected by autism?

A

1.1%

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12
Q

What are the risk factors for autism?

A
  • Male gender
  • Genetics/family history
    Advancing parental age
  • Parental psychiatric disorders
  • Prematurity
  • Maternal medication use
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13
Q

What can the symptoms of autism described in the ICD-10 be divided into?

A
  • Asocial features
  • Restricted behaviour
  • Impaired communication
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14
Q

What are the asocial symptoms of autism?

A
  • Few social gestures, e.g. waving, nodding, and pointing at objects
  • Lack of eye contact, social smile, response to name, interest in others, emotional expression, sustained relationships, and awareness of social rules
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15
Q

What are the behaviour restriction symptoms of autism?

A
  • Restricted, repetitive, and stereotyped behaviour, e.g rocking and twisting
  • Upset at any change in daily routine
  • May prefer the same foots, insist on the same clothes, and play the same games
  • Obsessively persued interests
  • Fascination with sensory aspects of environment
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16
Q

What are the communication symptoms of autism?

A
  • Distorted or delayed speech
  • Echolalia
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17
Q

What is echolalia?

A

Repetition of words

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18
Q

What % of patients notice signs of autism by 12-18 months of age?

A

50%

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19
Q

What age should the onset of autism occur before?

A

3

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20
Q

Can autism be diagnosed if the onset is after 3?

A

There is an atypical autism that can be diagnosed after 3

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21
Q

Other than those described in the ICD-10, what are the features of autism?

A
  • Intellectual disability
  • Temper tantrums
  • Impulsivity
    *
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22
Q

Do all patients with autism have intellectual disability?

A

No - if you include all on the autistic spectrum, the majority will not have an intellectual disability

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23
Q

What conditions are associated with autism?

A
  • Epileptic seizures
  • Visual impairment
  • Hearing impairmnt
  • Infections
  • Pica (eating inedible objects)
  • Constipation
  • Sleep disorders
  • Underlying medical conditions
  • Psychiatric conditions
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24
Q

What underlying medical conditions are associated with autism?

A
  • PKU
  • Fragile X
  • Tuberous sclerosis
  • Congenital rubella
  • CMV
  • Toxoplasmosis
25
Q

What psychiatric disorders are associated with autism?

A
  • Hyperkinetic disorder
  • Depression
  • Bipolar affective disorder
  • Anxiety
  • Psychosis
  • OCD
  • DSH (deliberate self-harm)
26
Q

What are the ICD-10 criteria for the diagnosis of autism?

A
  • Presence of abnormal or impaired development before the age of three.
  • Qualitative abnormalities in social interaction.
  • Qualitative abnormalities in communication.
  • Restrictive, repetitive and stereotyped patterns of behaviour, interests and activities.
  • The clinical picture is not attributable to other varieties of pervasive developmental disorder.
27
Q

What investigations are done in autism?

A
  • History
  • MSE
  • Full developmental assessment
  • Hearing tests if required
  • Screening tools, including CHAT (CHecklist for Autism in Toddlers)
28
Q

What is included in a full developmental assessment?

A
  • Family history
  • Pregnancy
  • Birth
  • Medical history
  • Developmental milestones
  • Daily living skills
  • Assessment of communication, social interaction, and stereotyped behaviours
29
Q

What are the speech and hearing developmental milestones?

A
  • 3 months - turns towards sound, quietens to parent’s voice
  • 6 months - double syllables, e.g. ‘adah’
  • 9 months - says ‘mama’ and ‘dada’
  • 12 months - knows and responds to own name
  • 12-15 months - knows about 2-6 months, understands simple commands
  • 2 years - combines 2 words
  • 3 years - talks in short sentences (3-5 words), asks ‘what?’ and ‘who?’ questions
  • 4 years - asks when, how, and why questions
30
Q

What are the social behaviour developmental milestones?

A
  • 6 weeks - smiles (refer at 10 weeks if not smiling)
  • 6 months - enjoys interaction
  • 1 year - waves bye
  • 2 years - interested in other children
  • 3 years - make believe play
  • 4 years - plays with other children
31
Q

What are the differential diagnoses of autism?

A
  • Asperger’s syndrome
  • Rett’s syndrome
  • Childhood disintergrative disorder
  • Learning disability
  • Deafness
  • Childhood schizophrenia
32
Q

What is Asperger’s syndome?

A

A condition similar to autism, with abnormalities in social interactions and restricted, stereotyped behaviours. However, unlike autism, there is no impairment in language, cognition, or intelligence (IQ normal).

33
Q

Is Asperger’s syndrome more common in girls or boys?

A

Boys

34
Q

What is Rett’s syndrome?

A

A severe, progressive disorder starting in early life. Results in language impairment, repetitive stereotyped hand movements, loss of fine motor skills, irregular breathing, and seizures

35
Q

Is Rett’s syndrome more common in girls or boys?

A

It is almost exclusively seen in girls

36
Q

What gene has an important role in Rett’s syndrome?

A

MECP2

37
Q

What is childhood disintegrative disorder (Heller’s syndrome)?

A

A syndrome characterised by two years of normal development, followed by a loss of previously development learned skills (language, social, and motor).

It is also associated with repetitive, stereotyped interests and behaviours, as well as cognitive deterioration

38
Q

When can a diagnosis of autism be reliably made?

A

Age 3

39
Q

Who should make a diagnosis of autism?

A

Specialist

40
Q

What are local autism teams?

A

Community-based MDTs including paediatricians, psychiatrists, educational psychologists, speech and language therapists, and occupational therapists

41
Q

What should local autism teams ensure that all those diagnosed with autism have?

A

A key worker to manage and coordinate treatment

42
Q

When can CBT be used in the management of autism?

A

If the child has verbal and cognitive ability to engage, and is motivated

43
Q

What interventions for life skills can be made in autism?

A
  • Developing daily living skills
  • Developing coping strategies
  • Enabling access to education
  • Enabling access to community facilities, such as those related to leisure and sports
44
Q

What issues do you need to ensure are addressed in autism?

A

All physical health, mental health, and behavioural issues

45
Q

What support should be offered to families and carers of those with autism?

A

Personal, social, and emotional support

46
Q

Give an example of a self-help available in autism?

A

The National Autistic Society

47
Q

What might be considered in terms of education for those with autism?

A

Special schooling

48
Q

What can be considered for sleep disorders that persist despite behavioural interventions?

A

Melatonin

49
Q

What interventions can be employed for the core feature of autism?

A

Social-communication intervention, e.g. play-based strategies

50
Q

Should pharmacological agents be used as an intervention for the core features of autism?

A

No

51
Q

What interventions can be employed for challenging behaviour in autism?

A
  • Treatment of co-existing physical disorders, mental health problems, and behavioural problems
  • Modification of environmental factors
  • Antipsychotics
52
Q

What co-existing physical disorders might cause challenging behaviour in autism?

A
  • Epilepsy
  • Constipation
53
Q

What co-existing mental health problems might cause challenging behaviour in autism?

A
  • Anxiety
  • Depression
54
Q

What co-existing behavioural problems might cause challenging behaviour in autism?

A

ADHD

55
Q

What is first line in the management of challenging behaviour in autism?

A

Modification of environmental factors which initiate or maintain challenging behaviour

56
Q

What aspects of the environment may need to be modified in the management of challenging behaviour?

A
  • Lighting
  • Noise
  • Social circumstances
  • Inadvertent reinforcement of challenging behaviour
57
Q

Give an example of an antipsychotic that can be used in managing challenging behaviour in autism

A

Risperidone

58
Q

When should antipsychotics be considered in the management of challenging behaviour in autism?

A

When psychosocial interventions are insufficient, or if the features are severe

59
Q

Why does the use of anti-psychotics in autism require careful consideration?

A

As there are significant side effects, and metabolic monitoring is required