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Neuropsychiatric Disorders > Intellectual Disability > Flashcards

Intellectual Disability Flashcards

1
Q

What are the three main features of intellectual disability?

A
  1. Significant impairment in intellectual functioning (IQ <70)
  2. Significant impairment in adaptive behaviour (>2SDs below mean)
  3. Evidence in the developmental period (under 18)
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2
Q

What is mild ID?

A

▪️ IQ 2-3 SDs below mean (55-70)
▪️ ~80% of ID, often not diagnosed
▪️ Independence in self care, practical and domestic skills
▪️ Basic reading and writing

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3
Q

What is moderate ID?

A

▪️ IQ/adaptive behaviour 3-4 SDs below mean (40-55)
▪️ ~10-12%
▪️ Limited language skills, need help wit self-care
▪️ Majority have identifiable organic aetiology

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4
Q

What is severe ID?

A

▪️ IQ/adaptive behaviour >4 SDs below mean (<40)
▪️ ~4-7%
▪️ Use of words/gestures for basic needs
▪️ Motor impairment
▪️ Can undertake simple tasks and engage in limited social activities

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5
Q

What is profound ID?

A

▪️ IQ/adaptive behaviour >4 SDs below mean
▪️ 1-2%
▪️ No self care skills
▪️ Some may eventually acquire some simple speech and social behaviour
▪️ Organic aetiology clear in most

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6
Q

What conditions are excluded from ID?

A

▪️ Educationally disadvantaged people
▪️ Brain injury in adulthood
▪️ Progressive neurological conditions
▪️ Cognitive decline due to severe mental illness/ substance misuse

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7
Q

What are some of the major causes of ID?

A

▪️ Down syndrome
▪️ Neural tube defects
▪️ Foetal alcohol syndrome
▪️ Fragile X syndrome
▪️ Perinatal factors (e.g., hypoxia)
▪️ Iodine deficiency
▪️ Congenital hypothyroidism
▪️ Genetic disorders such as tuberous sclerosis, PWS, Angelman etc
▪️ Phenylketonuria

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8
Q

What are copy number variants?

A

▪️ Chromosomal deletions or duplications
▪️ Can be de novo or inherited
▪️ Pathogenic ones are rare but can have large effect sizes
▪️ Presence in neurodevelopmental genes can have adverse functional consequences (e.g, deletion = produce lower quantities of protein)

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9
Q

How can you test for CNVs?

A

Chromosomal microarray analysis

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10
Q

Can CNV testing be used for diagnosis in ID?

A

▪️ Can identify significant regions but no information on point mutations
▪️ Diagnostic yield = 15-20%
▪️ Mainly used for research and testing in children (not adults!)

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11
Q

What percentage of ASD can be attributed to CNVs?

A

10-20%

(e.g., 16p11.2, exonic NRXN1 deletions)

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12
Q

What is the commonest known genetic cause of schizophrenia?

A

VCFS/22q11.2 deletion

(VCFS = velocardiofacial syndrome)

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13
Q

How might CNV microarrays be used in psychiatric clinics?

A

To identify undiagnosed genetic conditions in those with MH

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14
Q

What is the most common observation in the investigation of pathogenic CNVs in ID?

A

CNVs at recurrent loci (55%)

Followed by very rare CNVs (28%) and chromosomal abnormalities (17%)

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15
Q

How might a CNV effecting just one gene be pathogenic?

A

If that gene is very important for neurodevelopment

Size is not necessarily indicative of effect

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16
Q

What might an individual present with if they have a CNV deletion at recurrent loci (16p11.2)?

A

▪️ Autism
▪️ Developmental delay
▪️ Large head circumference
▪️ Risk of obesity

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17
Q

What might an individual present with if they have a CNV duplication at recurrent loci (16p11.2)?

A

▪️ Schizophrenia
▪️ Autism
▪️ Developmental delay
▪️ Small head circumference
▪️ Clinically underweight

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18
Q

What is the most widespread single-gene cause of autism and inherited cause of ID among boys?

A

Fragile X syndrome (FMR1 gene)

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19
Q

What is the most common genetic cause of ID that is NOT inherited?

A

Down syndrome (trisomy 21)

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20
Q

What other conditions are individuals with Down syndrome at increased risk of?

A

▪️ Early onset dementia (AD)
▪️ Depression
▪️ Epilepsy - biphasic due to increased risk in childhood and later on with AD
▪️ Congenital cardiac conditions
▪️ Diabetes and hyperthyroidism
▪️ Sleep apnoea

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21
Q

What is Prader-Willi syndrome and how does it present?

A

▪️ Loss of paternal chromosome 15 material
▪️ Insatiable appetite, obesity, pica, skin picking
▪️ Increased risk of depression, psychosis, behavioural disorders, OCD symptoms

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22
Q

What is Angelman syndrome and how does it present?

A

▪️ Loss of maternal chromosome 15 material
▪️ Happy presentation - laughter, clapping etc
▪️ Epilepsy in 90%
▪️ Severe/profound ID
▪️ Fair hair, blue eyes, microcephaly, and long face

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23
Q

What is Lesch-Nyhan syndrome and how does it present?

A

▪️ X-linked recessive disorder of purine metabolism (very rare!)
▪️ Microcephaly and ID
▪️ Choreoathetosis (slow involuntary movements)
▪️ Seizures, hyperuricaemia
▪️ Severe, compulsive self-injurious behaviour such as biting fingers or lips

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24
Q

What is 22q11.2 deletion syndrome?

A

▪️ Microdeletion in 22q11.2 region
▪️ Majority spontaneous (10% AD)
▪️ Overlapping phenotypic variations with Di George and VCFS
▪️ Hypocalcaemia and seizures
▪️ 50% have ID, typically mild
▪️ Verbal IQ > performance IQ

25
Q

What is tuberous sclerosis and how does it present?

A

▪️ Condition causing calcified benign tumours, particularly in cortex, and skin malformations
▪️ Seizures in 90%
▪️ ID in 2/3
▪️ Behavioural problems, autism, psychotic disorders, self-injurious behaviour
▪️ Treated with everolimus

26
Q

How does risk for mental health problems differ in those with ID compared to the general population?

A

▪️ Increased risk (10-39%)
▪️ Particularly for anxiety and affective disorders
▪️ Increased risk of schizophrenia in mild ID
▪️ Comorbidities with ASD, ADHD, and epilepsy
▪️ Behavioural and personality disorders
▪️ Dementia in later life

27
Q

What are the main issues with estimating the epidemiology of mental health in ID?

A

▪️ Conflicting/inconclusive research
▪️ Hard to test
▪️ Unknown validity of diagnostic criteria
▪️ Difficult to detect mild ID

28
Q

What biological factors may contribute to the increased risk of MH in ID?

A

▪️ Genetic conditions (e.g., PWS, VCFS) - maladaptive behaviours
▪️ Brain injury (e.g., hypoxia)
▪️ Physical disability and sensory deficits
▪️ Speech difficulties
▪️ Epilepsy (20-25%)
▪️ Abnormal thyroid function
▪️ Medication

29
Q

What potential causes of ID are associated with an increased risk of epilepsy?

A

▪️ Down syndrome
▪️ Fragile X
▪️ Angelman syndrome
▪️ Rett syndromes

30
Q

What physical health problems are frequently associated with ID?

A

▪️ Higher levels of chronic ill health and premature death
▪️ High risk of infection
▪️ Preventable mortality and health inequalities
▪️ Poor uptake of preventative screenings
▪️ DNR notices

31
Q

What psychological factors associated with ID may contribute to poorer MH outcomes?

A

▪️ Impaired intelligence and memory
▪️ Lower threshold for stress tolerance
▪️ Impaired or learned dysfunctional coping strategies
▪️ Impaired problem-solving
▪️ Lifelong dependency on others - vulnerable to abuse
▪️ Poor self-image

32
Q

What environmental factors may contribute to poorer MH outcomes in ID?

A

▪️ Under or over stimulating environment
▪️ Stigma and social exclusion
▪️ Increased rates of physical/sexual abuse
▪️ Financial exploitation
▪️ Poor supports/relationships
▪️ Carer stress

33
Q

How might social disadvantage contribute to poorer MH in ID?

A

▪️ Families more likely to live in poverty
▪️ Social disadvantage continues in adult life
▪️ Multiple social difficulties

34
Q

What is the DC-ID?

A

A diagnostic criteria used for psychiatric diagnoses in people with ID, complementary to the ICD-10

35
Q

Why might people with ID have an increased risk of dementia (~3x)?

A

▪️ Down syndrome and triple APP gene = increased risk of EOAD from age 40
▪️ Increased rates of depression, hypothyroidism, and behavioural problems
▪️ Social isolation?

36
Q

How does schizophrenia in ID differ from the general population?

A

▪️ Rate = 3x higher
▪️ Earlier age of onset
▪️ Content of delusional beliefs is simpler
▪️ Odd behaviours, idiosyncratic speech
▪️ Thought disorder less common

37
Q

What is the main issue with diagnosing schizophrenia in ID?

A

Distinguishing hallucinations from developmentally appropriate phenomena such as speaking to oneself or ‘imaginary friends’

38
Q

How does depression typically present in ID?

A

▪️ More common, likely associated with physical illness and adversity
▪️ Self-injurious and destructive behaviours
▪️ Atypical presentations such as hypersomnia and increased appetite

39
Q

How might depression present in severe ID?

A

▪️ Screaming
▪️ Aggression
▪️ Self-injurious behaviour

40
Q

How might bipolar disorder present in ID?

A

▪️ More commonly rapid cycling
▪️ Predominantly irritable
▪️ Possibly related to physical factors such as menstrual cycle

41
Q

What are the main issues with diagnosing personality disorder in ID?

A

Can be particularly difficult due to significant symptom overlap with other psychiatric and behavioural disorders

42
Q

Of the two subtypes of emotionally unstable personality disorder, which is most common in ID?

A

Impulsive

43
Q

What are challenging behaviours?

A

▪️ Culturally abnormal behaviour
▪️ Physical safety of the person or others is at risk
▪️ Or which is likely to limit use of ordinary community facilities (or lead to person being denied use)

44
Q

What are examples of challenging behaviours?

A

▪️ Demanding behaviour
▪️ Verbal aggression
▪️ Physical aggression
▪️ Destructiveness
▪️ Self-injurious behaviour
▪️ Absconding
▪️ Stripping in public

45
Q

What factors should be considered if someone with ID is engaging in challenging behaviours?

A

▪️ Physical ill-health
▪️ Epilepsy
▪️ Autism
▪️ Communication and sensory difficulties
▪️ Environmental factors
▪️ Abuse
▪️ Maltreatment

46
Q

When can detention under the Mental Health Act be enforced in individuals with ID?

A

If someone with intellectual impairment has seriously irresponsible or abnormally aggressive behaviour

BUT controversial

47
Q

What is diagnostic overshadowing?

A

The tendency for clinicians to overlook symptoms of mental health in the presence of another condition, such as learning disability

Attribute behaviours to ID

48
Q

What should be monitored when assessing MH problems in ID?

A

▪️ ‘Baseline’ measurements
▪️ Sleep
▪️ Appetite and weight
▪️ Level of activity
▪️ Particular behaviours
▪️ Physical examination

49
Q

What should you consider when asking questions to people with ID?

A

▪️ Check for suggestibility or acquiescence
▪️ Avoid leading questions
▪️ Use simple, short sentences
▪️ Ask for feedback to ensure comprehension

50
Q

What are the main standardised instruments for assessing the health of people with ID?

A

▪️ HoNOS-LD (Health of the Nation Outcome Scales for People with LD)
▪️ PAS-ADD (Psychiatric Assessment Schedule for Adults with Developmental Disabilities)
▪️ DSQIID (Dementia Screening Questionnaire for Individuals with ID)
▪️ CANDID (Camberwell Assessment of Needs for Adults with Developmental and Intellectual Disabilities)
▪️ Behavioural rating scales

51
Q

What is the multi-axial system for diagnosis using the DC-LD?

A
  1. Degree of ID and impairment of behaviour
  2. Medical conditions, including genetic syndromes
  3. Psychiatric diagnoses including developmental disorders
52
Q

What are the main approaches to intervention for ID?

A

▪️ Medication
▪️ Psychological treatments
▪️ Behavioural treatments
▪️ Environmental and social supports

53
Q

What are the main issues surrounding the use of medication in ID?

A

▪️ Historically inappropriate and excessive
▪️ Lack of controlled research
▪️ Capacity and consent
▪️ Most not licensed for behavioural problems
▪️ Drug interactions?

54
Q

What medication is licensed for controlling aggressive behaviour or intentional self harm in LD?

A

Lithium

55
Q

What medication has shown benefit for the treatment of repetitive self-injurious behaviours in LD?

A

Naltrexone

56
Q

How can psychological interventions be used in ID?

A

▪️ Adaptation of CBT models with non-verbal material, drawing, role play etc
▪️ Psychodynamic approaches
▪️ Beneficial also for families and staff

57
Q

How can behavioural management be used in ID?

A

▪️ Functional analysis to asses meaning of challenging behaviours
▪️ “Positive behavioural support”
▪️ Non-aversive interventions
▪️ Teaching new behaviours
▪️ Changing environment

58
Q

What social and environmental factors need to be considered when supporting someone with ID?

A

▪️ Housing situation
▪️ Ability to self care
▪️ Activities of daily living
▪️ Social opportunities

Neuropsychiatric Disorders (30 decks)

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