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6. Learning disability psychiatry > Aetiology and syndromes > Flashcards

Aetiology and syndromes Flashcards

1
Q

Clinical features of Usher’s syndrome

A

Retinitis pigmentosa
Congenital deafness
Vestibulocochlear ataxia
LD in 23% of cases
Psychosis in 15% of cases

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2
Q

Behavioural features of Fragile X syndrome

A

Shy
Gaze avoidant
Social anxiety
Hyperactive
ASD in 10%

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3
Q

Behavioural features of Prader-Willi syndrome

A

Insatiable appetite and food obsession
Skin picking
Impulsive
Aggressive
OCD

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4
Q

Behavioural features of Smith-Magenis syndrome

A

Hyperactive
Impulsive
Aggressive
Stereotyped behaviours e.g. self hugging
Self injuring behaviour

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5
Q

Behavioural features of Williams syndrome

A

Affectionate
Inattentive
Anxiety disorders
Phobias

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6
Q

Behavioural features of Cornelia de Lange syndrome

A

Self injuring behaviour

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7
Q

Behavioural features of Lesch-Nyhan syndrome

A

Severe self injuring behaviour

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8
Q

Behavioural features of velo-cardio-facial syndrome

A

Psychosis

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9
Q

Behavioural features of Rett syndrome

A

Stereotyped hand movements
Reduced interest in play in early years
ASD type symptoms

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10
Q

Behavioural features of Angelman syndrome

A

Puppet like gait
Laughing often
Attraction to water

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11
Q

Behavioural features of cri du chat syndrome

A

Inappropriate laughter
Cat like cry in infancy

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12
Q

Behavioural features of sanfilippo syndrome

A

Sleep disturbances
Impulsivity

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13
Q

Most common genetic cause of LD

A

Down’s syndrome

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14
Q

Incidence of Down’s syndrome

A

1 in 1000 live births

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15
Q

Incidence of Down’s syndrome in women <30

A

1 in 2500

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16
Q

Incidence of Down’s syndrome in women >40

A

1 in 80

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17
Q

Incidence of Down’s syndrome in women >45

A

1 in 32

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18
Q

Three genetic forms of Down’s syndrome

A

Full trisomy (non-disjunction)
Robertsonian translocation
Mosaic Down’s syndrome

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19
Q

Percentage of cases of Down’s syndrome caused by non-disjunction

A

92-95%

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20
Q

Percentage of cases of Down’s syndrome caused by Robertsonian translocation

A

2-4%

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21
Q

Percentage of cases of Down’s syndrome caused by mosaicism

A

1-2%

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22
Q

Facial features of Down’s syndrome

A

Upward slanting palpebral fissures
Flat wide nasal bridge
Protruding tongue
Small mouth
Close set eyes
Brushfield spots
Epicanthic folds
Low set ears

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23
Q

Most common cardiac defect in people with Down’s syndroem

A

AVSD

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24
Q

Non-facial physical features of Down’s syndrome

A

Hypotonia
Short stature
Overweight
Single palmer crease
Sandal gap
Undescended testicles in 20%

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25
Q

Physical comorbidities common in Down’s syndrome

A

Congenital heart disease
Testicular cancer
ALL
Oesophageal atresia
Hirschsprung disease
Umbilical and inguinal hernias
Poor eyesight - myopia, strabismus
Poor hearing - otitis media, sensorineural deafness
Hypothyroidism
Diabetes
Epilepsy

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26
Q

Percentage of people with Down’s syndrome with a congenital heart defect

A

40%

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27
Q

Average IQ of someone with Down’s syndrome

A

50

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28
Q

Incidence of Fragile X syndrome

A

1 in 3000

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29
Q

Most common inherited cause of LD

A

Fragile X syndrome

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30
Q

Triplet repeat seen in Fragile X syndrome

A

CGG

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31
Q

Gene affected in Fragile X syndrome

A

FMR1

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32
Q

Learning disability seen in women with Fragile X syndrome

A

Mild

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33
Q

Learning disability seen in men with Fragile X syndrome

A

Moderate/severe

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34
Q

Physical features of Fragile X syndrome

A

Large head
Large ears
Long, narrow face
Short stature
Macro-orchidism
Hyperflexible joints

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35
Q

Percentage of patients with Fragile X syndrome who have seizures

A

20-25%

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36
Q

Incidence of Turner’s syndrome

A

1 in 2000 to 1 in 5000 live born females

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37
Q

Percentage of conceptions with Turner’s syndrome which end in spontaneous abortion

A

99%

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38
Q

Physical features of Turner’s syndrome

A

Short stature
Low hairline
Webbed neck
Low set ears
Broad chest
Widely spaced nipples

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39
Q

Congenital malformations associated with Turner’s syndrome

A

VSD
Coarctation of the aorta

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40
Q

Behavioural features of Turner’s syndrome

A

Distractibility
Poor social skills
Poor self esteem
No LD

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41
Q

Incidence of triple X syndrome

A

1 in 1000 live born females

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42
Q

Percentage of people with triple X syndrome who have mild LD

A

60-70%

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43
Q

Psychiatric comorbidities seen in triple X syndrome

A

Anxiety
Possible association with schizophrenia

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44
Q

Incidence of Klinefelter’s syndrome

A

1 in 500 to 1 in 1000 live born males

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45
Q

Physical features of Klinefelter’s syndrome

A

Infertility
Sparse body hair
Hypogonadism
Gynaeocomastia

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46
Q

LD seen in Klinefelter’s syndrome

A

Skewed distribution
Median IQ 90
Most people have IQ in range 60-70

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47
Q

Behavioural features of Klinefelter’s syndrome

A

Poor school performance
Introversion
Lack of assertion

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48
Q

Incidence of XYY

A

1 in 1000 live born males

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49
Q

Behavioural features of XYY

A

Often associated with behavioural problems

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50
Q

Chromosome affected in Prader-Willi syndrome

A

15

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51
Q

Parental chromosome responsible for Prader-Willi syndrome

A

Paternal

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52
Q

Incidence of Prader-Willi syndrome

A

1 in 10000 to 1 in 25000 live births

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53
Q

Features of Prader-Willi syndrome in infancy

A

Hypotonia
Lethargy
Poor feeding and failure to thrive
Breech birth
Sleepiness

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54
Q

Characteristic features of Prader-Willi syndrome in older children and adults

A

Hyperphagia
Obesity
Hypotonia
Hypogonadism
Infertility
Flexibility
Borderline/mild LD

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55
Q

Physical features of Prader-Willi syndrome

A

Small hands and feet
Hypogonadism
Almond shaped eyes
Thin upper lip
Downturned mouth
Striae

56
Q

Chromosome affected in Angelman syndrome

A

15

57
Q

Parental chromosome responsible for Angelman syndrome

A

Maternal

58
Q

LD seen in Angelman syndrome

A

Severe/profound

59
Q

Facial features of Angelman syndrome

A

Fair hair
Blue eyes
Microcephaly

60
Q

Prevalence of Angelman syndrome

A

1 in 20000 to 1 in 30000

61
Q

Percentage of people with Angelman syndrome with epilepsy

A

90%

62
Q

Chromosome affected in Williams Syndrome

A

7

63
Q

Incidence of Williams Syndrome

A

1 in 7500 to 1 in 20000 live births

64
Q

Electrolyte abnormality in Williams Syndrome

A

Hypercalcaemia

65
Q

LD seen in Williams Syndrome

A

Mild to moderate

66
Q

Medical problems associated with Williams syndrome

A

Renal abnormalities
Supravalvular aortic stenosis
Thyroid abnormalities
Hypercalcaemia

67
Q

Physical features of Williams syndrome

A

Short stature
Elfin like face
Broad forehead
Premature wrinkling

68
Q

Behavioural features of Williams syndrome

A

Anxiety, fearfulness and difficulty making friends OR
Outgoing and excessively friendly
Verbal skills comparatively good

69
Q

Chromosome affected in Cri du chat syndrome

A

5

70
Q

Incidence of Cri du chat syndrome

A

1 in 15000 to 1 in 50000 live births

71
Q

Physical features of Cri du chat syndrome

A

Microcephaly
Round face
Epicanthic folds
Broad flat nose
Slanting palpebral fissures
Low set ears

72
Q

LD seen in Cri du chat syndrome

A

Severe to profound

73
Q

Chromosome affected in Smith-Magenis syndrome

A

17

74
Q

Incidence of Smith-Magenis syndrome

A

1 in 25000 live births

75
Q

Physical features of Smith-Magenis syndrome

A

Flattened mid face
Short hands and feet
Single palmar crease
High arched palate
Small toes
Protruding tongue

76
Q

Chromosome affected in DiGeorge syndrome

A

22

77
Q

Prevalence of DiGeorge syndrome

A

1 in 4000

78
Q

LD seen in DiGeorge syndrome

A

Mild to moderate in >50%

79
Q

Facial features of DiGeorge syndrome

A

Microcephaly
Cleft palate
Small mouth
Long face

80
Q

Electrolyte abnormality seen in DiGeorge syndrome

A

Hypocalcaemia

81
Q

Percentage of people with tuberous sclerosis who have seizures

A

90%

82
Q

LD seen in tuberous sclerosis

A

Absent to profound

83
Q

Clinical features of tuberous sclerosis

A

Hamartomas of the CNS
Ash leaf spots
Nail fibromas

84
Q

Chromosomes affected in tuberous sclerosis

A

9
16

85
Q

Chromosome affected in neurofibromatosis

A

17

86
Q

Tumours seen in NF I

A

Benign neurofibromas in the CNS

87
Q

Tumours seen in NF II

A

Acoustic neuromas leading to hearing loss

88
Q

Clinical features of NF

A

Cafe au lait spots
Neurofibromas
Axillary freckling
Lisch nodules

89
Q

Psychiatric features of NF

A

Speech and language difficulties
Moderate to profound LD in 10%
Distractibility
Hyperactivity
Anxiety

90
Q

Enzyme which is defective in PKU

A

Phenylalanine hydroxylase

91
Q

Characteristic features of untreated PKU

A

Microcephaly
Hypopigmentation of the skin
Language delay
Severe LD
Hyperactivity
Self injuring behaviour
Musty odour of the skin

92
Q

Features of Laurence-Moon-Biedl syndrome

A

Retinitis pigmentosa
Polydactyly
Night blindness
Hypogonadism
Mild to moderate LD
Diabetes
Renal issues

93
Q

Substance build up seen in Lesch-Nyhan syndrome

A

Uric acid

94
Q

Sex most affected by Lesch-Nyhan syndrome

A

Male

95
Q

Features of Lesch-Nyhan syndrome

A

Hypotonia
Extra-pyramidal features at 9 months
Hyperreflexia and clonus at 1 year
Seizures
Uncontrollable self injury
Kidney failure

96
Q

Incidence of congenital hypothyroidism

A

1 in 4000 live births

97
Q

Clinical features of congenital hypothyroidism

A

Puffy face
Large tongue
Dry hair
Constipation
Low muscle tone
Jaundice
LD if untreated

98
Q

Percentage of LD in males accounted for by Fragile X syndrome

A

10-12%

99
Q

Characteristic findings on brain imaging of someone with Fragile X syndrome

A

Enlarged ventricles
Enlarged hippocampus
Enlarged caudate nuclei
Reduced posterior cerebellar vermis

100
Q

Age of onset of Lennox Gastaut syndrome

A

3-5

101
Q

Triad of features seen in Lennox Gastaut syndrome

A

Multiple drug resistant seizure types
EEG of slow wave spikes
LD

102
Q

Sleep pattern seen in Rett syndrome

A

Excessive somnolence

103
Q

Most common aetiological cause of LD

A

Defects in embryogenesis

104
Q

Rate of autism in a child with an affected sibling

A

1-10%

105
Q

Syndrome associated with compulsive self mutilation

A

Lesch-Nyhan

106
Q

Inheritance manner of tuberous sclerosis

A

Autosomal dominant

107
Q

Percentage of people with ASD who are also obese

A

20%

108
Q

Mode of inheritance of Fragile X syndrome

A

X linked dominant

109
Q

Heritability of autism

A

80-90%

110
Q

Mode of inheritance of Hunter syndrome

A

X linked recessive

111
Q

Most common cause of death in people with Down’s syndrome

A

Infections

112
Q

Sex most affected by Rett syndrome

A

Female

113
Q

Pattern of inheritance of PKU

A

Autosomal recessive

114
Q

Syndrome associated with stereotyped, hand wringing movements

A

Rett syndrome

115
Q

Syndrome associated with attraction to water

A

Angelman syndrome

116
Q

Syndrome associated with intolerance to noise

A

Rubinstein Taybi syndrome

117
Q

Syndrome caused by mutations in a gene coding for the enzyme responsible for purine synthesis

A

Lesch-Nyhan

118
Q

Condition associated with night blindness, central obesity, and polydactyly

A

Laurence-Moon-Biedl

119
Q

Percentage of cases of LD caused by genetic inheritance

A

5%

120
Q

Percentage of cases of LD caused by pregnancy related and perinatal problems

A

10%

121
Q

Percentage of cases of LD caused by acquired general medical conditions

A

5%

122
Q

Percentage of cases of LD caused by environmental influences

A

15-20%

123
Q

Percentage of cases of LD with no definite aetiology

A

30-40%

124
Q

Percentage of people with Down’s syndrome who have epilepsy

A

5-10%

125
Q

Percentage of people with Fragile X syndrome who have epilepsy

A

20-25%

126
Q

Percentage of people with Rett syndrome who have epilepsy

A

90%

127
Q

Percentage of people with Angelman syndrome who have epilepsy

A

90%

128
Q

Percentage of people with tuberous sclerosis who have epilepsy

A

90%

129
Q

Mode of inheritance of Lesch-Nyhan syndrome

A

X linked recessive

130
Q

Gene associated with Rett syndrome

A

MECP2

131
Q

Gene associated with Fragile X syndrome

A

FMR1

132
Q

Clinical features of homocystinurea

A

Mild LD
Marfanoid stature
Visual problems and lens dislocation
Chest deformities

133
Q

Clinical features of Sanfilippo disease

A

Dwarfism
Claw hand
Increased body hair
Severe LD
Joint stiffness
Hepatosplenomegaly

134
Q

Neuroimaging findings in fragile X syndrome

A

Reduction of the cerebellar vermis
Enlargement of the fourth ventricle

135
Q

Neuroimaging findings in Down syndrome

A

Reduced total brain volume
Reduced grey matter volume
Reduced hippocampus and amygdala size
Generalised atrophy for age

6. Learning disability psychiatry (3 decks)

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