Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Behavioural features of Fragile X syndrome

A

Shy
Gaze avoidant
Social anxiety
Hyperactive
ASD in 10%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Behavioural features of Prader-Willi syndrome

A

Insatiable appetite and food obsession
Skin picking
Impulsive
Aggressive
OCD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Behavioural features of Smith-Magenis syndrome

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Behavioural features of Williams syndrome

A

Affectionate
Inattentive
Anxiety disorders
Phobias

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Behavioural features of Cornelia de Lange syndrome

A

Self injuring behaviour

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Behavioural features of Lesch-Nyhan syndrome

A

Severe self injuring behaviour

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Behavioural features of velo-cardio-facial syndrome

A

Psychosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Behavioural features of Rett syndrome

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Behavioural features of Angelman syndrome

A

Puppet like gait
Laughing often
Attraction to water

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Behavioural features of cri du chat syndrome

A

Inappropriate laughter
Cat like cry in infancy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Behavioural features of sanfilippo syndrome

A

Sleep disturbances
Impulsivity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Most common genetic cause of LD

A

Down’s syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Incidence of Down’s syndrome

A

1 in 1000 live births

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Incidence of Down’s syndrome in women <30

A

1 in 2500

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Incidence of Down’s syndrome in women >40

A

1 in 80

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Incidence of Down’s syndrome in women >45

A

1 in 32

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Three genetic forms of Down’s syndrome

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

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

A

92-95%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

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

A

2-4%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Percentage of cases of Down’s syndrome caused by mosaicism

A

1-2%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Most common cardiac defect in people with Down’s syndroem

A

AVSD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Non-facial physical features of Down’s syndrome

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

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

A

40%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Average IQ of someone with Down’s syndrome

A

50

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Incidence of Fragile X syndrome

A

1 in 3000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Most common inherited cause of LD

A

Fragile X syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Triplet repeat seen in Fragile X syndrome

A

CGG

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Gene affected in Fragile X syndrome

A

FMR1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Learning disability seen in women with Fragile X syndrome

A

Mild

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Learning disability seen in men with Fragile X syndrome

A

Moderate/severe

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Physical features of Fragile X syndrome

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Percentage of patients with Fragile X syndrome who have seizures

A

20-25%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Incidence of Turner’s syndrome

A

1 in 2000 to 1 in 5000 live born females

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

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

A

99%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Physical features of Turner’s syndrome

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

Congenital malformations associated with Turner’s syndrome

A

VSD
Coarctation of the aorta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

Behavioural features of Turner’s syndrome

A

Distractibility
Poor social skills
Poor self esteem
No LD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

Incidence of triple X syndrome

A

1 in 1000 live born females

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

Percentage of people with triple X syndrome who have mild LD

A

60-70%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

Psychiatric comorbidities seen in triple X syndrome

A

Anxiety
Possible association with schizophrenia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

Incidence of Klinefelter’s syndrome

A

1 in 500 to 1 in 1000 live born males

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

Physical features of Klinefelter’s syndrome

A

Infertility
Sparse body hair
Hypogonadism
Gynaeocomastia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

LD seen in Klinefelter’s syndrome

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

Behavioural features of Klinefelter’s syndrome

A

Poor school performance
Introversion
Lack of assertion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

Incidence of XYY

A

1 in 1000 live born males

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

Behavioural features of XYY

A

Often associated with behavioural problems

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

Chromosome affected in Prader-Willi syndrome

A

15

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

Parental chromosome responsible for Prader-Willi syndrome

A

Paternal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

Incidence of Prader-Willi syndrome

A

1 in 10000 to 1 in 25000 live births

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

Features of Prader-Willi syndrome in infancy

A

Hypotonia
Lethargy
Poor feeding and failure to thrive
Breech birth
Sleepiness

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

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

A

Hyperphagia
Obesity
Hypotonia
Hypogonadism
Infertility
Flexibility
Borderline/mild LD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions