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MRCPsych Part B > Neurodevelopmental > Flashcards

Neurodevelopmental Flashcards

1
Q

Autism

History

A

Kanner
- believed early presentation of childhood schizophrenia
- characterised by social isolation, need for
sameness, innate developmental quality

Asperger

  • form of personality disorder (akin to schizoid)

Lorna Wing
- cemented relationship of Asperger to Autism, former greater ability and syntatical speech

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2
Q

Autism

A neurodevelopmental disorder

A

Impaired:
- social interaction
- social communication
Difficulty in receptive and expressive language
skills
- Need for sameness = repetitive and restrictive
behaviours, mental rigidity

Movement (stereotypy; handflapping, finger
flicking)
Objects (arranging, flipping)
Speech (repetitive, echolalia, idiosyncratic)

Also, sensory impairment

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3
Q

Difficulties in diagnosing autism

A

Gender bias

Underdiagnosed in females; potential for masking in gender roll e.g. intense interests that may not seem unusual

Adult diagnosis

May have developed compensatory, learnt behaviours
Leaving school - marriage, employment may either mask or reveal symptomology

Intellectual disability

As delayed development is part of diagnosis of LD, more emphasis on positive behaviours e.g. motor stereotypy, écholalia, repetitive activities, lack of social interest

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4
Q

Autism - aetiology

A

Genetic

CNV (microdeletions and duplication; 10-20% ASD)
Cytogenetically visible gene abnormalities (5%)
Single gene disorder (5%)

Fragile X, neurofibromatosis, smith-lemli-opitz, Rett syndrome, timothy syndrome, pten macrocephaly
PKU and TS - link appears with seizure

Primary autism

  • strong genetic aetiology (pairwise concordance 88% MZ; 31%DZ)
  • heritability 90%

Pandas
Familial autoimmune disorder

Prenatal: maternal infection, bleeding, psychotropics (valproate), fetal alcohol syndrome, maternal stress, gestational diabetes, advancing parental age (M>F)

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5
Q

Heritability

A

Heritability for a disorder or trait to the extent which it can be accounted for by genetic effects, based on genetic variance within the population

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6
Q

Social impairment

A

Difficulty in:

Cues for reciprocal social interaction
Joint interactive play and attention behaviour
Lack of theory of mind, recognising social cues, inappropriate response to distress in others

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7
Q

Communication impairment

A
  • Verbal and non-verbal language affected
  • Language expression affected greater than
    receptive language
  • Echolalia, abnormal prosody (pattern of intonation), pronoun reversal
    -Difficulties in humour and sarcasm
    -Concrete thinking
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8
Q

Impairment of imagination and behaviour

A

Limited interests and activities; lack imagination, spontaneity and creativity

Repetitve and stereotyped activities

Compulsive routines and unusual attachments

Unexpected change; distress, agitation and aggression

Interest in part of, or a non-functional element of an object e.g. texture

Can’t predict outcomes/ difficult future planning

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9
Q

Prevalance

A

UK = 1.1%, male:female (2 vs 0.3%, as high as 4:1)

Intellectual disabilities

Sex differences are less marked
Autism increases with severity of LD and decreasing verbal IQ

Autism 31% in comminal care vs 35.4% in household

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10
Q

Co-morbidities

A

Epilepsy
ADHD (50% in clinic)
Anxiety and depression
OCD (Difficult to disentangle)

– in autism mannerisms and rituals are for pleasure

– ocd, egodystonic, maintained by anxiety

Autism thought to possibly predispose to later psychosis.

Association with brief psychotic disorder
(Sudden, acute state in response to severe emotional arousal; <1 month, no long term functional decline)

Schizophrenia; onset adolescence and young adulthood; closer link childhood-onset Schizophrenia, where 30-50% have pre-existing autism

Catatonic symptoms in up to 20% of patients

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11
Q

Medication in ASD

A

Sleep disturbance - melatonin, hypnotics
Social anxiety - SSRI, clomipramine
Stereotypies: low dose risperidone, haloperidol, valproate
Rituals and obsessive behaviour: SSRI, clomipramine, valproate

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12
Q

Autism and epilepsy prevalence

A

No ID = 8%

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13
Q

Autism and psychosis

A

Probably predisposes to later life psychosis, complex relationship:

Symptoms of autism can be mistaken for those in schizophrenia, however restricted, repetitive patterns of behaviour are not a feature of schizophrenia and hallucinations not of autism.

Specific association with:

Autism and catatonia
Autism and brief psychotic disorder
Schizophrenia, specifically childhood-onset Schizophrenia

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14
Q

Non-pharmacological management

A
  1. Communication e.g. SALT
  2. Psychoeducation e.g. coping in the world
  3. Support finding employment, reasonable
    adjustments in the work place
  4. Psychological intervention
  5. Carer education and support
  6. Environmental adaptations; reducing
    distraction, discomfort and unpredictability
  7. Management of co-morbid disorders
  8. Sensory adaptations
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15
Q

Autism questionnaire

A

Autistic spectrum quotient (ASQ)

Self-rated; measures expression of ASD traits

AQ-10 = autistic spectrum quotient 10
Screening instrument (not in > moderate LD)
>6 = ASD suspected

Assessment tools:

Diagnostic interview for social and communication disorders (DISCO)

ADOS
Autistic diagnostic observation schedule

ADI-R, autism diagnostic interview revised

Structured interview, with parents

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16
Q

F84 Childhood autism

A

A.

Abnormal or impaired development must be evident before age 3 in at least 1/3 domains:

  • receptive or expressive language in social communication
  • development of selective social attachments or reciprocal interaction
  • functional or symbolic play

B. Total 6 from 1,2 and 3. At least 2 from social interaction, at least one from social communication and RRBI

Reciprocal social interaction, communication, RRBI

  1. Cannot use non-verbal to regulate social interaction, does not develop peer relationships with mutual sharing, no social-emotional reciprocity, lack of spontaneous seeking to share with others
  2. Delay or lack of development of spoken language with no attempt to reciprocate through gesture/mime. May have lack of babbling. Do not initiate or sustain conversation where reciprocal responsiveness is required, language stereotyped and repetitive with idiosyncracities, lack of imagine play when young.
  3. Preoccupied with one or more stereotyped and restricted patterns of interest abnormal in intensity and nature, Compulsive adherence to routibe and rituals, stereotyped and repetitive motor mannerisms hand/finger flapping or twisting, complex whole body movements. Preoccupied with part objects or non-functional elements of play material

C. Not attributed to other pervasive developmental disorders

17
Q

F84.1 Atypical Autism

A

Onset after 3 years old or does not fulfil all 3 sets of diagnositic criteria criteria

Often seen in profound LD

18
Q

F84.5 Asperger’s

A
  1. There is evidence of unusual development in first 3 years of life as per autism
  2. Intellectual abilities are in the average range and there is no delays in learning to talk
  3. Clumsiness is common
  4. M:F 8:1
19
Q

Tourette’s disorder

A

Motor and vocal tics for at least 12 months
Several times a day, every day. No more than 2 months without tics
M>F 2-3:1
Onset before 18
Mean onset 7

20
Q

Developmental red flags for ASD

A 
No babbling 12 months
No gesturing 12 months
No single words 16 months
No 2 word spontaneous by 2 years
Any loss of language or social skills

Other:
Diminshed eye contact, social engagement
Limited interest in social games or turn taking
Prefers to be alone
Visual attention to objects more than people
Limited range of facial expression

21
Q

Autism and catatonia symptoms overlap

A 
Mutism
Negativism 
Stereotypic speech 
Echolalia
Posturing 
Grimacing
Rigidity
Mannerisms 
Purposeless agitation 
Stereotypies
22
Q

Tourette’s prognosis

A

50% continue to have sx as adults

Medication for severe cases, haloperidol has best evidence

MRCPsych Part B (13 decks)

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