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Psychiatry > Intellectual disability > Flashcards

Intellectual disability Flashcards

1
Q

What is an intellectual disability?

A

Intellectual disability is defined as impaired intellectual functioning and impaired social or adaptive functioning, originating during the developmental period (E.g. Cognition, language, motor)

This is due to arrest or incomplete development of the mind

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2
Q

What are some single gene disorders that can cause ID?

A
  • Fragile X
  • Phenylketonuria (PKU)
  • Rett
  • Lesch-Nyhan
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3
Q

What are some copy number variants/microdeletions/duplication mutation related disorders that can cause ID?

A
  • DiGeorge
  • Prader-willi
  • Angelman
  • Cri du chat
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4
Q

What are some chromosomal disorders that can cause ID?

A
  • Down’s syndrome (Trisomy 21)
  • Patau syndrome (Trisomy 13)
  • Edward’s syndrome (Trisomy 18)
  • Turner’s syndrome (45 XO)
  • Triple X syndrome (47 XXX)
  • Klinefelter syndrome (47 XXY)
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5
Q

What are some prenatal exposures that can cause ID?

A

Alcohol - Foetal alcohol syndrome
Tobacco smoke
Prescribed or illicit drugs
Infections

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6
Q

What in-utero infections can cause ID?

A

TORCH:
T - Toxoplasmosis
O - Others (Hep. B, Syphilis, HZV)
R - Rubella
C - Cytomegalovirus
H - Herpes simplex

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7
Q

What are some causes of ID during birth?

A
  • Prematurity
  • Late delivery
  • Hypoxic brain injury
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8
Q

What are some causes of ID in early childhood?

A
  • Head injuries in childhood
  • Pesticide and heavy metal exposure
  • Untreated congenital conditions
  • Malnutrition
  • Iodine deficiency
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9
Q

What are some physical co-morbidities that commonly occur alongside ID?

A
  • Visual impairment
  • Epilepsy
  • Constipation
  • Ataxia/gait disorders
  • Hearing impairment
  • Cerebral palsy
  • GORD
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10
Q

Why can ID lead to poorer health outcomes in hospital?

A

This can become dangerous when healthcare professionals put diagnoses down to their ID, causing delays in treatment, diagnosis and care, leading to increased rates of mortality and poor quality of care

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11
Q

What are the 5 severity stages of ID?

A

Borderline
Mild
Moderate
Severe
Profound

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12
Q

Borderline ID IQ

A

70-84

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13
Q

Mild ID IQ

A

50-69

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14
Q

Moderate ID IQ

A

35-49

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15
Q

Severe ID IQ

A

20-34

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16
Q

Profound ID IQ

A

< 20

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17
Q

Boderline ID mental age

A

12-15

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18
Q

Mild ID mental age

A

9-12

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19
Q

Moderate ID mental age

A

6-9

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20
Q

Severe ID mental age

A

3-6

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21
Q

Profound ID mental age

A

< 3

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22
Q

Characteristics of mild ID

A
  • Delayed speech - able to use everyday speech
  • Full independence - self care, practical and domestic skills
  • Difficulties in reading and writing
  • Capable of unskilled or semi-skilled work
  • Problems if social or emotional immaturity
  • Rarely organic aetiology
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23
Q

Characteristics of moderate ID

A
  • Slow with comprehension and language
  • Limited achievements
  • Delayed self care and motor skills
  • Simple practical tasks - often with supervision
  • Usually fully mobile - physically active
  • Discrepant profiles
  • Majority organic aetiology
  • Epilepsy and physical disability common
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24
Q

Characteristics of severe ID

A
  • Generally more marked impairment than in moderate ID and achievements more restricted
  • Epilepsy
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25
Q

Characteristics of profound ID

A
  • Severe limitation in ability to understand or comply with requests or instructions
  • Little or no self care
  • Often severe mobility restriction
  • Basic or simple tasks may be acquired
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26
Q

Assessment tool for adult intellectual impairment?

A

Weschler adult intelligence scale (WAIS)

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27
Q

Assessment tool for childhood intellectual impairment?

A

Weschler intelligence scale for children (WISC)

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28
Q

What result on WAIS and WISC gives a diagnosis of intellectual impairment (ICD-11)

A
  • Approx. ≥2 SDs below the mean (≤2.3rd percentile)
  • IQ < 70
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29
Q

What are some assessment tools for social or adaptive dysfunction?

A
  • Vineland scale
  • ABAS
  • AMPS
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30
Q

What is the ICD-11 diagnostic criteria for social or adaptive dysfunction in ID?

A
  • Deficits or impairment in 2 or more adaptive skills:
    • Communication
    • Self-care
    • Home living
    • Social skills
    • Community use
    • Self-direction
    • Health and safety
    • Functional academics (E.g. calculating change)
    • Leisure and work
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31
Q

What are some psychological treatments for ID

A
  • Behavioural e.g. teach/improve basic skills, relaxation techniques
  • CBT
  • Psychodynamic therapy - relationships
32
Q

What are some other management options in ID

A
  • Therapeutic environment - general and specific support
  • Psychoeducation - patient and carers
  • Social - unmet needs, support network
  • Communication - hearing aids, glasses, Pictorial, Makaton
33
Q

Describe the genetics of fragile X syndrome

A

This is an X-linked dominant mutation of the FMR1 gene in which a large sequence of CGG repeats at a fragile site on the X chromosome

34
Q

Physical features of fragile X syndrome

A
  • Prominent, broad forehead
  • Large ears
  • Long face
  • Strabismus (Squint)
  • Prominent jaw
  • Crowding, high-arched palate
  • Murmur/ mitral valve prolapse
  • Hollow chest
  • Hypotonia
  • Scoliosis
  • Macro-orchidism
  • Austism spectrum disorders
  • Intellectual disability
35
Q

Describe the genetics of phenylketonuria (PKU)

A

This is a preventable cause of severe intellectual disability caused by deficiency of phenylalanine hydroxylase

This occurs due to an inborn error of metabolism

36
Q

How is PKU diagnosed?

A

Post-natal Guthrie test (Heel-prick test)

37
Q

Physical features of PKU

A

Fair hair & skin and blue eyes

38
Q

What are some neurological signs of PKU?

A
  • Stooped posture
  • Broad-based gait
  • Increased tone and reflexes
  • Tremor
39
Q

What are some behavioural features of PKU?

A
  • Hyperactivity
  • Temper tantrums
  • Perseveration
  • Echolalia (Repeating someone)
40
Q

How is PKU managed?

A

Management involves supervised early dietary restriction of phenylalanine

Pharmacological management is with pegvaliase or sapropterin which are enzyme replacements

41
Q

Describe the genetics of Rett’s syndrome

A

It is caused by a mutation in the MECP2 gene on the X chromosome

This is a pervasive developmental disorder found manly in females

42
Q

What are the 4 stages of Rett’s syndrome?

A
  1. Early onset developmental arrest
  2. Rapid destructive/ regressive phase
  3. Plateau phase
  4. Late motor deterioration
43
Q

How is Rett’s syndrome managed?

A

This may be manageable with gene therapy, but has a poor prognosis with motor deterioration and severe ID occurring

44
Q

Describe the genetics of DiGeorge syndrome

A

This is a syndrome caused by a micro-deletion of 22q11

45
Q

What are some features of DiGeorge syndrome?

A
  • Intellectual disability
  • Cardiac abnormalities (Tetralogy of Falot, VSD, etc.)
  • Facuial features
  • Hypocalcaemia
  • Hypospadias
  • Long, thin hands
  • Behavioural/Psychiatric disorders
46
Q

Describe the genetics of Prader-Willi syndrome

A

This is a syndrome caused by a microdeletion of 15q11-13 (Paternal copy)

47
Q

What are some clinical features of Prader-Willi syndrome?

A
  • Massive hyperphagia (Overeating)
  • Compulsive food seeking
  • Marked obesity
  • Facial features
48
Q

What are some facial features of Prader-Willi syndrome?

A
  • Narrow temple distance and nasal bridge
  • Almond-shaped eyes
  • Thin upper lip
  • Downturned mouth
49
Q

What are some signs of Prader-Willi syndrome in neonates?

A
  • Hypotonia
  • Unresponsiveness
  • Strabismus
  • Sleeplessness
50
Q

What are some childhood and adolescent signs of Prader-Willi syndrome?

A
  • Short stature
  • Hypogenitalism
  • Behavioural disorders
  • Intellectual disabilities
  • Speech abnormalities
  • Sleep disturbance
51
Q

Describe the genetics of Angolan syndrome

A

This is a syndrome caused by a microdeletion of 15q11-13 (Maternal copy) and thus is the complement of Prader-Willi syndrome (Maternal vs paternal)

52
Q

What are some clinical features of Angolan syndrome?

A
  • Ataxia
  • Epilepsy
  • Paroxsysms of laughter
  • Absence of speech
  • Facial features
  • Severe/profound intellectual disability
  • Hand flapping, tongue thrusting and mouth movements
  • URTIs and ear infections
  • Obesity
53
Q

Describe the genetics of Cri du Chat

A

This is a syndrome caused by a deletion of the short arm of chromosome 5

54
Q

What are some clinical features of Cri du Chat?

A
  • Distinctive high pitched wailing cry (Laryngeal defect) - “Cry of the cat “
  • Microencephaly
  • Short stature
  • Hypertelorism (Increased distance between eyes)
  • Downward slant of eyes
  • Small chin
  • Low set ears
  • Nose broad and beak-like
  • Low birthweight with failure to thrive in the early months
  • Poor sucking reflex
  • Intellectual disability
  • Limited speech development
55
Q

Describe the genetics of Down’s syndrome

A

Extra copy of chromosome 21

56
Q

How does Down’s syndrome present in the neonate

57
Q

Head features of Down’s syndrome

A
  • Bradycephalic
  • Round
  • Reduced cranial capacity
58
Q

Hair features of Down’s syndrome

A

Dry, sparse and fine

59
Q

Facial features of Down’s syndrome

A
  • Short palpebral fissures
  • Flat midface
  • Short nose
  • Indistinct philtrum
  • Thin upper lip
  • Micrognathia (Small chin)
60
Q

Eye features of Down’s syndrome

A
  • Upward and outward slanting
  • Epicanthic fold on the inner aspect of the upper eyelid
  • Strabismus
  • Nystagmus
  • Cataracts
  • Conjunctivitis and blepharitis due to lack of lysozyme
61
Q

Mouth features of Down’s syndrome

A
  • Small with high, narrow palate
  • Tongue big with horizontal fissures, therefore the mouth is often held open with the tongue protruding
  • Delayed development of teeth with abnormalities of size, shape and alignment
62
Q

Hand features of Down’s syndrome?

A
  • Square palm with palmar crease
  • Wide gap between thumb and second finger
  • Short stubby fingers
63
Q

Co-morbidities of Down’s syndrome

A

Congenital heart disease (AVSD)
Thyroid disease
Early-onset dementia
Infertility and anovulation

64
Q

Describe the genetics of Patau syndrome

A

Extra copy of chromosome 13

65
Q

What is the prognosis of Patau syndrome?

A

90% die within the 1st year of life

66
Q

What are some features of Patau syndrome?

A
  • Severe heart defects
  • Holoprosencephaly
  • Ear malformations or deafness
  • Exomphalos or omphalocoele (Intestines outwith body)
  • Kidney cysts
  • Abnormally small penis
  • Enlarged clitoris
  • Polydactyly
  • Rocker-bottom feet
67
Q

What is holoprosencephaly?

A

Brain fails to divide into 2 hemispheres

68
Q

What are some consequences of holoprosencephaly?

A
  • Cleft lip or palate
  • Microphthalmia
  • Anophthalmia
  • Hypertelorism
  • Nasal passage abnormalities
  • Microcephaly
  • Cutis aplasia (Skin missing from the scalp)
69
Q

Describe the genetics of Edward’s syndrome

A

Extra copy of chromosome 18
Can be full, mosaic or partial

70
Q

How does Edward’s syndrome present?

A
  • Skull elongation
  • Receding chin
  • Hypertelorism
  • Underdeveloped supraorbital ridges, eyebrows and eyelashes
  • Ears - Low set, small, abnormal in shape
  • Neck - Short with redundant skin folds or webbing
  • Fingers - Flexed, tendance to overlap
  • Feet - Rocker-bottom feet, dorsiflexed great toes
  • Limited abduction of the hip
  • Some spasticity
  • Frontal lobes may not separate properly
71
Q

Describe the genetics of Turner’s syndrome

A

45 XO (Missing X chromosome in a female or missing Y in a male)

72
Q

Presentation of Turner’s syndrome

A
  • Diminished secondary sexual chacteristics
  • Presentation as female
    • Lacks ovarian tissue and sex hormones
      Sterile
    • Primary Amenorrhoea
    • Widely spaced nipples
  • Short stature (average height 1.45cm)
  • Webbing of neck
  • Low hairline at back of neck
73
Q

Genetics of Triple X syndrome

A

47 XXX (Extra copy of X chromosome in female)

74
Q

Presentation of Triple X

A
  • Variation in degree of learning disability/behavioural issues
  • Skeletal and neurological problems
  • Psychotic disorders thought to be associated
75
Q

Genetics of Klinefelter syndrome

A

47 XXY (Extra X chromosome in a male)

76
Q

Presentation of Klinefelter syndrome

A
  • Development normal until puberty
  • Secondary sexual characteristics fail to develop – Treated with Testosterone
  • Testes small/undescended
  • Body hair sparse
  • c. 30% males show moderately severe gynaecomastia
  • Adult Life
  • Long lower limbs
  • Taller than average
  • Increased risk
  • leg ulcers
  • Osteoperosis
  • Breast Cancer
  • Psychosis

Psychiatry (29 decks)

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