Neurodevelopmental disorders Flashcards

1
Q

Diagnostic features of ADHD

A

Hyperactivity

Inattention

Impulsivity

Onset in childhood (<12/<7 for ICD), inconsistent with developmental stage

Pervasive (>1 setting e.g. home + school) + present for >=6mo

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2
Q

Aetiology of ADHD

A
  • Biological
    • Strong heritability (FDR 5x risk)
    • Mothers who used drugs/alcohol/tobacco during pregnancy
    • Prematurity, small for gestational age
    • Early brain injury/perinatal complications
  • Psychological
    • Foster children/prolonged childhood deprivation
    • Abuse
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3
Q

Differential diagnosis in ADHD

A

Sleep, visual, hearing problems

ASD

Anxiety

Intellectual disability

Brain injury

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4
Q

Features of inattention in Hx

A

Poor performance at school

Struggling to organise themselves (need high parental scaffolding)

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5
Q

Features of impulsivity in Hx

A

Higher risk taking behaviour

Frequent A&E attendances

Strained family/peer relationships

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6
Q

Key components of developmental Hx

A

Pregnancy + prematurity

Walk + talk milestones

Sleep/feeding problems

Early temparement

Development of social + communication skills

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7
Q

Assessment questionairres for ADHD

A

C-GAS: assessing impairment

QB+ test: High Sens, low Sp

SDQ/SNAP/Conner’s: Diagnostic standardised tests

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8
Q

Common comorbidities with ADHD

A

ASD (20-50% of ADHD will have ASD)

Depression, anxiety

Tic disorders

Dyspraxia/dyslexia

Sleep disorder

Conduct disorder/ODD

Dissocial PD/substance misuse develops later

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9
Q

Gender ratio for ADHD

A

2-3x more common in males (may be underdiagnosed due to ‘atypical’ more inattentive presentation in females)

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10
Q

Neurotransmitter system implicated in ADHD

A

Low D2/D3 receptors in basal ganglia

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11
Q

Prognosis for ADHD

A
  • 50-60% one or more core symptoms into adulthood
    • Over-activity lessens
    • Impulsivity, risk-taking, poor concentration may worsen/stay same/improve
  • 15-30% full ADHD syndrome
  • Problems with substance misuse, criminal record, poor academic/career achievement
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12
Q

Non-pharmacological interventions for ADHD

A

Mixed evidence, esp if using blinded assessors

Classroom: Teacher awareness + special strategies (e.g. fiddle toys, movement breaks)

Parent: Training, NICE recommended, better evidence for conduct disorder

Behavioural/social skills training: For child

Psychological: CBT, better evidence for adolescents esp w/ comorbidities (pref on meds)

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13
Q

Efficacy of ADHD medication

A

70% symptomatic response (but no cure)

Brain changes in adult populations –> more normal

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14
Q

Pharmacological treatments for ADHD

A

1st line: Methylphenidate 6w trial (psychostimulant)

2nd line: lis-dexamphetamine 6w trial (psychostimulant)

3rd line: atomoxetine (NA RI)

Inhibit reuptake of DA/NA

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15
Q

Common side effects of ADHD medication

A

Neuro: headache, insomnia, tics

CVS: BP + pulse increase. Regular monitoring + ECG, esp if Hx of palpitations/syncope or FHx of SCD

Growth: Reduced in first 3 years, consider drug holidays for catchup

Psych: Psychosis, suicidality

GI: Nausea, weight loss, anorexia

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16
Q

Core triad of symptoms for ASD

A

Impairment of social interaction/behaviour

Communication difficulties

Narrowing of interests/rigid + repetitive behaviour

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17
Q

Features of impaired social functioning in ASD

A

Aloofness, egocentricity, reduced interest in others + difficulty sharing interests

Few/no sustained relationships, preference for solitude

Lack of awareness of social rules + reciprocity

Excessive/diminished stranger anxiety

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18
Q

Features of communication difficulties in ASD

A

Poor nonverbal communication (pointing, gesturing, body posture)

Abnormal speech, pronoun reversal

Delayed development of smiling/pointing/speech (assessment in all <3yo with delays)

Pedantic speech ‘little professor’

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19
Q

Features of rigid/repetitive behaviour in ASD

A

Stereotyped/repetitive speech or motor movements or use of objects

Adherence to routines/rituals + resistance to change (high transition anxiety)

Abnormal sensory sensitivity

Preoccupation with objects/topics, specific, fixed, intense

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20
Q

Important differentials for ASD

A

ADHD (esp girls)

ID

Social anxiety

OCD

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21
Q

Assessment for suspected ASD

A
  • Screening tools: e.g. ADOS, DISCO; AQ for adults
  • Multidiscplinary: Speech + lang, OT, EdPsych/SENCO at school
  • Corroborative Hx: Parents, teachers, coaches
22
Q

Management of ASD

A
  • Psychoeducation + signposting: E.g. National Autism Society, self-help books
  • Liaising with school: For adjustments via SENCO/EdPsych
  • Parental support groups/courses: e.g. All Things Autism
  • Early intervention schemes: e.g. TEACCH, ESDM
  • Psychological treatment: Social skills training (e.g. stories), SALT, behavioural training programs
  • Comorbidity: Psychiatric, sensory (OT), ID/SpLD
  • Melatonin: For sleep disturbance, if necessary
23
Q

M:F ratio for ASD

A

1.5-3:1

Dx may be missed in girls due to atypical presentation (‘masked’ behaviours and present later)

24
Q

Aetiology of ASD

A

Bio: 40-90% heritability (2-14% risk in siblings); altered brain connectivity esp frontal/parietal, empathy circuits, and corpus callosum

Psycho: Weak central coherence, ‘Mindblindness’, Executive dysf(x)

25
Q

Characteristics of learning disability

A

Reduced IQ (<70)

Impairment in social/adaptive funcitoning

Onset <18yo (i.e. during developmental period)

26
Q

IQ cutoff values for different LDs

A

Mild: 50-69

Moderate: 35-49

Severe: 20-35

Profound: <20

27
Q

Prevalence of LDs

A

3% of general population, of which

85% mild

10% moderate

5% severe/profound

28
Q

Speech abnormalities across LD spectrum

A

Mild: Almost normal, simple content

Moderate: Short sentences + not connected

Severe: Limited speech, up to 10 words

Profound: No speech

29
Q

Most common causes of severe LD

A

Down’s

Fragile X

30
Q

Key physical comorbidity in severe LD that needs to be managed

A

High seizure risk

31
Q

Physical features of fragileX syndrome

A

Large, protruding ears

Large testes

Lax joints

Flat feet

Long face

32
Q

Prevalence of psychiatric illness in population with LD

A

3x general population (Except unipolar depression, same prevalence)

33
Q

Confounders in psychiatric presentations in LD

A

Hypothyroidism/epilepsy/infection as common causes –> must screen

More likely to present with somatic/behavioural symptoms

Grief timeline must be extended to allow for processing time

34
Q

Management of psychiatric conditions in those with LD

A

Similar to general population

CBT may be more effective due to lack of intellectualisation

35
Q

Aetiology of Down’s syndrome

A

Trisomy 21

36
Q

Aetiology of fragile X syndrome

A

Triplet repeat in FMR1 on X chromosome

37
Q

Aetiology of Prader-Willi syndrome

A

Deletion on chromosome 15 from father (c.f. Angelman)

38
Q

Clinical features of Prader-Willi syndrome

A

Obesity

Hypogonadism

Compulsive eating (esp of inedible things)

Psychosis

LD

39
Q

Clinical features of Williams syndrome

A

Hypercalcaemia

Elfin like appearance

LD - affects visuospatial > verbal

40
Q

Incidence of Down’s

A

1/1000 live births

41
Q

Incidence of fragile X

A

1/1500 live births

42
Q

Prenatal causes of LD

A

Infections: HIV, syphillis, Rubella, CMV, toxoplasmosis

Exposure: Drugs, alcohol, radiation

Nutrition: Placental insufficiency, maternal malnutrition

Psychiatric: Maternal schizophrenia, untreated unipolar depression

Genetics: Chromosomal abnormalities, single gene disorders, SNPs

43
Q

Perinatal causes of LD

A

V high or low birth weight

Asphyxia

Hypoglycaemia, hypothyroidism, hyperbilirubinaemia

44
Q

Postnatal causes of LD

A

Infections: Meningitis, encephalitis

Head injury

Hypoxia

Brain tumours

45
Q

Scale for calculating mental age and relationship to IQ

A

Stanford-Binnett Intelligence Scale

Mental age/chronological age (max 18) = approx IQ

46
Q

Mechanism of action of amphetamines

A

Competitive substrate of VMAT –> displaces NA/DA out of synpatic vesicles

Weak reuptake + MAO inhibitor

47
Q

Normal age for development of theory of mind (i.e. passing Sally-Anne test)

A

3-4yo

48
Q

Physical illness associations with ASD

A

Tuberous sclerosis

PKU

Epilepsy

49
Q

Heritability of ASD

A

Approx 80%

50
Q

Prevalence of ASD in UK

A

1%

51
Q

Risk of ASD if sibling has ASD

A

4-17% (varies depending on order, gender mismatch)

52
Q

Indications for medications in ADHD

A

Failure of psychosocial interventions in moderate ADHD

Severe ADHD