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Paper B targeted revision > Learning Disability 1.2 > Flashcards

Learning Disability 1.2 Flashcards

1
Q

Incidence of Fragile X

A

1/3000

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2
Q

Most common inherited cause of LD

A

Fragile X

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3
Q

IQ of most people with Fragile X

A

<50

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4
Q

How many men with LD have Fragile X?

A

10-12%

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5
Q

How many children with Fragile X have autism?

A

50%

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6
Q

Genetics of Fragile X?

A

Trinucleotide triplet repeat - CGG - on long arm of chromosome X

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7
Q

Which chromosome has the trinucleotide repeat in Fragile X?

A

Xq27.3-FMR1

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8
Q

What is FMR1 gene needed for?

A

Normal neural development

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9
Q

Penetrance of Fragile X

A

Low

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10
Q

Why is Fragile X more common in males?

A

Protective effects of second normal X chromosome in females

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11
Q

Clinical features of Fragile X

A 
Large head & ears
Long, narrow face
Short
Post pubertal macro-orchidism
Hyperextensible joints
Seizures
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12
Q

How many people with Fragile X have seizures?

A

20-25%

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13
Q

Which people with Fragile X have mild LD?

A

Women

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14
Q

Behavioural features of Fragile X

A 
Hyperactivity
Inattention
Stereotypies
Speech & language delays
Repetitive mannerisms
Shyness
Gaze avoidance
Communication difficulties
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15
Q

Brain imaging in Fragile X

A

Enlarged ventricles, hippocampus & caudate nuclei

Reduced posterior cerebellar vermis

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16
Q

What is higher triplets in Fragile X associated with?

A

Lesser IQ

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17
Q

When is reduced IQ most pronounced in Fragile X?

A

Ages 8-12

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18
Q

What is drop in IQ in Fragile X related to?

A

Higher stress upon abstract difficulties in different IQ tests used in adults vs children

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19
Q

Genetics of Turner X

A

Chromosomal aberration of part or all of X chromosome (45,X)

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20
Q

Prevalence of Turner X

A

1/2000

1/5000 females at birth

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21
Q

How many Turner-syndrome conceptions end in spontaneous abortion or still birth?

A

99%

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22
Q

Clinical features of Turner X?

A 
Short
Low hairline
Low-set ears
Broad chest
Widely spaced nipples
Webbed neck
Obesity
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23
Q

Puberty in Turner X?

A

Ovarian failure before birth

Puberty does not occur naturally

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24
Q

Behavioural features of Turner X?

A

Hyperactivity and distractibility in childhood

Poor social skills & low self-esteem in adolescence

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25
Q

LD in Turner X?

A

Not typically

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26
Q

IQ in Turner X?

A

Normal intelligence

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27
Q

How many people with Turner X have VSD or coarctation of aorta?

A

12%

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28
Q

What is Triple X syndrome also known as?

A

Trisomy X

XXX

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29
Q

Genetics of Trisomy X

A

Presence of extra C chromosome in each cell of human female

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30
Q

Incidence of Triple X

A

1:1000 female births

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31
Q

How many people with Triple X have mild LD?

A

60-70%

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32
Q

Features of Triple X

A

Delayed language development
Motor coordination problems
Accelerated growth until puberty
Premature Ovarian failure

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33
Q

What psychiatric problems is Triple X associated with?

A

Anxiety

Increased incidence of schizophrenia

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34
Q

Other names for Klinefelters?

A

47,XXY

XXY

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35
Q

Incidence of Klinefelts

A

1:500 - 1:1000 live male births

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36
Q

Primary feature of Klinefelters

A

Sterility

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37
Q

Features of Klinefelters

A

Sparse body hair
Hypogonadism
Gynaecomastia

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38
Q

When does diagnosis of Klinefelters typically occur?

A

Puberty with variable degree of sexual characteristics

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39
Q

Height of those with Klinefelters?

A

Taller than average by 4cm

Thin build

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40
Q

Median IQ of Klinefelters

A

90

most in 60-70

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41
Q

Behavioural features of Klinefelters

A

Less introvertive & assertive
Less social
Poorer school performance

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42
Q

In which academic areas do Klinefelters do poorly?

A

Reading

Spelling

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43
Q

Genetics of XYY

A

Human male has extra Y chromosome

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44
Q

Another name of XYY

A

47, XYY

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45
Q

Incidence of XYY

A

1:1000 male births

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46
Q

IQ of XYY

A

Lower than average

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47
Q

Behavioural features of XYY

A

Associated with behavioural problems

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48
Q

Name some sex chromosome disorders

A

Fragile X
Turners
Klinefelters
XYY

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49
Q

Name some autosomal deletion and duplication disorders

A 
Prader-Willi
Angelmann
Williams
Cri-du-chat
Smith-Magenis
DiGeorge
Rubinstein-Taybi
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50
Q

Genetics of Prader-Willi

A

Deletion or inexpression of 7 genes on chromosome 15q11-13 on paternal chromosome

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51
Q

M:F incidence of Prader-Willi

A

4:3

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52
Q

Incidence of Prader-Willi

A

1/10,000-1/25,000 live births

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53
Q

Early features of Prader-Willi

A 
Hypotonia
Lethargy
Hypogonadism
Breech/Caesarian
Failure to thrive
Excessive sleepiness
Triangular mouth can cause feeding and swallowing problems
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54
Q

Childhood features of Prader-Willi

A

Increase in over-eating
Insatiable appetite can lead to stealing food
Sometimes consumption of unpalatable food

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55
Q

How many people with Prader-Willi have hyperphagia?

A

80%

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56
Q

Features of Prader-Willi in adulthood?

A 
Obesity
Hypotonia
Infertility
Hypogonadism
Sparse pubic hair
Extreme flexibility
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57
Q

IQ of Prader-Willi

A

<70 in 90%

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58
Q

Physical features of Prader-Willi

A 
Prominent nasal bridge and forehead
Small hands and feet
Almond-shaped eyes
Flattened face
Thin upper lip
Downturned mouth
Lack of complete sexual development
Striae
Delayed motor development
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59
Q

How many people with Prader-Willi have autistic features

A

15%

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60
Q

Life expectancy of Prader-Willi

A

Dependent on obesity and associated physical health problems

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61
Q

Genetics of Angelmann

A

Deletion in 15q12 of maternal origin

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62
Q

How many people with Angelman have a deletion in maternally derived chromosome 15

A

80%

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63
Q

Prevalence of Angelman

A

1/20,000-1/30,000

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64
Q

Clinical features of Angelman

A 
Happy disposition
Paroxysmal laughter
Hand flapping
Clapping
Ataxia
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65
Q

LD in Angelman

A

Severe/profound

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66
Q

Facial features of Angelman

A 
Fair hair and blue eyes
Microcephaly
Flattened occiput
Long face
Prominent jaw
Wide mouth
Widely-spaced teeth
Thin upper lip
Pointed chin
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67
Q

How many people with Angelman have fair hair and blue eyes?

A

66%

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68
Q

How many people with Angelman have epilepsy?

A

90%

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69
Q

EEG changes in Angelman

A

Characteristic with changes noted as early as age 3

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70
Q

Genetic cause of Williams

A

Deletion of around 25 genes from long arm of chromosome 7

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71
Q

Prevalence of Williams

A

1/7500-20,000

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72
Q

Characteristic feature of Williams?

A

Elfin-like facial appearance

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73
Q

Infants with Williams?

A 
Irritable
Feeding problems
Failure to thrive
Developmental delay
Growth retardation
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74
Q

How many children with Williams have high serum calcium levels?

A

> 60%

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75
Q

IQ in Williams?

A

40-80

Average 56

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76
Q

Features of Williams

A

Short, growth retardation
Premature wrinkling and sagging of skin
Hoarse voice

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77
Q

What physical problems are associated with Williams?

A

Renal and thyroid
Supravalvular aortic stenosis
Hypercalcaemia

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78
Q

Behavioural features of Williams?

A 
Anxious, fearful
Hypersensitive or outgoing
Sociable
Disinhibited
Excessively friendly
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79
Q

What skills are often better in Williams?

A

Verbal better than motor or visuospatial

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80
Q

Genetics of Cri-du-chat

A

Partial deletion at 5p15.2

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81
Q

How many deletions in Cri-du-chat are spontaneous?

A

85%

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82
Q

Origin of majority of Cri-du-chat deletions?

A

Paternal

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83
Q

Incidence of Cri-du-chat

A

1/15,000-1/50,000

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84
Q

M:F ratio of Cri-du-chat

A

4:3

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85
Q

Characteristic feature of Cri-du-chat

A

Infant has high-pitched cry that resembles a cat

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86
Q

Characteristics of Cri-du-chat

A 
Pronounced microcephaly
Round face with hypertelorism
Epicanthal folds
Slanting palpebral fissues
Broad flat nose
Low-set ears
Micrognathia
Dental malocclusion
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87
Q

LD in Cri-du-chat?

A

Severe-profound

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88
Q

Behavioural features of Cri-du-chat

A

Hyperactivity in children
Stereotypies
Self-injury
Tantrums

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89
Q

Physical diseases associated with Cri-du-chat

A

Respiratory & ear infections
Congenital heart disease
GI abnormalities

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90
Q

Incidence of Smith-Magenis

A

1:25,000

91
Q

Genetics of Smith-Magenis

A

Complete or partial deletion of 17p11.2

92
Q

LD in Smith-Magenis

A

> 75% have mild-moderate LD

93
Q

Features of Smith-Magenis

A 
Flattened mid face
Abnormally shaped upper lip
Short hands and feet
Single transverse crease
Abnormally placed ears
Protruding tongue
High arched palate
Small toes
Hoarse, deep voice
94
Q

Behavioural features of Smith-Magenis

A

Severe self-injury
Sleep disturbance (decreased REM)
Behavioural problems
Reduced sensitivity to pain and heart

95
Q

What is severity of cognitive impairment correlated with in Smith-Magenis?

A

Size of 17p11 deletion

96
Q

Genetics of DiGeorge

A

Microdeletion of 11q11.2

97
Q

How many incidence of DiGeorge arise denovo?

A

90%

98
Q

How many people with DiGeorge have an affected parent?

A

10%

99
Q

Prevalence of DiGeorge

A

1/4000

100
Q

LD of DiGeorge

A

Mild/moderate

101
Q

Physical abnormalities associated with DiGeorge

A 
Teratology of Fallot
VSD
Interrupted aortic arch
Pulmonary atresia
Hypocalcaemia - 60%
Small optic discs
Tortuous retinal vessels
Cataracts
Hearing problems
Renal problems
Inguinal/umbilical hernias
Hypospadias - 10% of males
102
Q

Facial features of DiGeorge

A 
Microcephaly
Cleft palate
Small mouth
Long face
Prominent tubular nose
Hypoplasia of adenoids
Nasal speech
Bulbous nasal tip
Narrow palpebral fissue
Minor ear abnormalities
103
Q

Other features of DiGeorge

A 
Seizures
Short stature
Long, thin hands 
Hypotonia
Hyperextensible fingers
104
Q

Behavioural problems in DiGeorge

A

Difficulties with reciprocal social interaction

Blunted/inappropriate affect

105
Q

Psychiatric problems associated with DiGeorge

A

Schizophrenia-like psychosis

106
Q

M:F ratio of Rubinstein-Taybi

A

1:1

107
Q

Incidence of Rubinstein-Taybi

A

1/125,000-300,000 births

108
Q

Genetics of Rubinstein-Taybi

A

Microdeletions in some cases at 16p13.3

109
Q

Features of Rubinstein-Taybi

A

Short
Broad thumbs and first toes
Feeding difficulties in infants
Seizures

110
Q

LD in Rubinstein-Taybi

A

Moderate-severe

111
Q

Facial features of Rubinstein-Taybi

A 
Microcephaly
Prominent nose
Broad nasal bridge
Hypertelorism
Protsis
112
Q

Physical problems in Rubinstein-Taybi

A

Congenital heart disease

EEG abnormalities

113
Q

IQ of Rubinstein-Taybi

A

Performance IQ>verbal IQ

114
Q

Behavioural features of Rubinstein-Taybi

A 
Inattentive
Distractible
Expressive language difficulties
Friendly disposition
Propensity for self-stimulatory activities
Intolerant of loud noises
115
Q

Name some autosomal dominant conditinos

A

Tuberous sclerosis complex 1 and 2 (TS 1+2)
Neurofibromatosis Type 1 (NF1)
Sturge-Weber

116
Q

M:F ratio of TS 1 +2

A

1:1

117
Q

Clinical features of TS 1+2

A

Seizures - 90%

118
Q

LD of TS 1+2

A

All degrees

30% have no LD

119
Q

First common feature of TS 1+2

A

‘Salaam attacks’ (infantile spasms)

120
Q

Physical features of TS 1+2

A

Hamartomas of CNS
Ash leaf spots
Fibromas of nails
Tumours in heart muscle & kidneys

121
Q

What are Ash leaf spots?

A

Depigmented skin patches

122
Q

Behavioural features of TS 1+2

A 
Autism
Hyperactivity
Impulsivity
Aggression
Self-injury
Sleep disturbances
123
Q

M:1 of NF1

A

1:1

124
Q

Genetics of NF1

A

Mutation of a gene on chromosome 17 which is responsible for control of all cell division

125
Q

Physical problems associated with NF1

A

Tumours along CNS

126
Q

IQ of NF1

A

50% have associated speech and language difficulties

Verbal IQ>performance IQ

127
Q

LD in NF1

A

10% have moderate-profound LF

128
Q

Behavioural features of NF1

A

Distractible
Impulsive
Hyperactive
Anxious

129
Q

Psychiatric associations with NF1

A

Anxiety and mood disorders

130
Q

Diagnosis of NF1 as per National Institute of Health

A

6 or more cafe au lait spots
2 or more neurofibromas of any type of 1 plexiform neurofibroma
Freckling in axillary of inguinal regions
Optic glioma
2 or more Lisch nodules
First degree relative with NF1
Distinctive osseous lesions

131
Q

Criteria for cafe au lait spots

A

> 5mm diameter pre-pubertal

>15mm post-pubertal

132
Q

What are Lisch nodules?

A

Pigmented iris hamartomas

133
Q

Give examples of distinctive osseous nodules in NF1

A

Sphenoid dysplasia

Thinning of long bone cortex with or without pseudarthrosis

134
Q

Clinical features of Sturge-Weber

A

LD
Epilepsy
Hemiparesis

135
Q

What physical signs is Sturge-Weber associated with?

A

Port-wine stains and angiomas of meninges in temporal and occipital areas

136
Q

Name some Autosomal Recessive disorders

A

Phenylketonuria (PKU)
Hurler
Sanfillipo
Laurence-Moon-Biedl

137
Q

Genetic cause of PKU

A

Deficit in phenylalanine hydroxylase enzyme activity which leads to build up of phenylalanine

Caused by inborn error of impaired metabolism

138
Q

How many children with PKU develop seizures

A

25% - generalised

139
Q

Features of PKU

A

Microcephaly
Hypopigmentation of skin
Language delay
Musty odour on skin

140
Q

LD of PKU

A

Severe

141
Q

Behavioural features of PKU

A

Hyperactivity

Self-injury

142
Q

How is PKU managed

A

Restricting levels of phenylalanine through diet and medication

143
Q

What causes Hurler?

A

Deficiency in enzyme alpha-L iduronidase leading to accumulation of glycosaminoglycans

144
Q

Features of urler

A

Short

Developmental delay

145
Q

Facial features of Hurler

A

Hirsuitism
Corneal clouding
Coarse facial features
Large tongue

146
Q

When is developmental delay evident in Hurler?

A

By end of first year
Stop developing between ages 2-4
Mental decline and loss of physical skills after this

147
Q

Which physical problem is Hurler associated with?

A

Hearing problems

148
Q

Mortality in Hurler

A

Frequently before the age of 10

149
Q

Cause of Sanfillipo

A

Disorder of breakdown of heparan sulphate

150
Q

Incidence of Sanfillipo

A

1/70,000 births

151
Q

LD in Sanfillipo

A

Severe

152
Q

Features of Sanfilippo

A 
Claw hand
Dwarfism
Hypertrichosis
Joint stiffness
Biconvex lumbar vertebrae
153
Q

Physical problems associated with Sanfillipo

A

Hearing loss

Hepatosplenomegaly

154
Q

Behavioural problems in Sanfillipo

A

Restlessness
Sleep problems
Challenging behaviour

155
Q

Prognosis of Sanfillipo

A

Poor

Most die between ages of 20-30 from respiratory tract infections

156
Q

Genetics of Laurence-Moon-Biedl syndrome

A 
Associated with multiple loci:
11q13
11q21
15q22
3p13
157
Q

LD of Laurence-Moon-Biedl

A

Mild to moderate

158
Q

Features of Laurence-Moon-Biedl

A 
Retinitis pigementosa
Night blindness due to red cone atrophy
Polydactyly
Spastic paraplegia
Hypogonadism
NIDDM
Renal problems
159
Q

Name some X-linked recessive conditinos

A

Lesch-Nyhan

Hunter

160
Q

Genetics of Lesch-Nyhan

A

Defect of long arm of X chromosome

161
Q

Prevalence of Lesch-Nyhan

A

1/380,000-1/1,000,000

162
Q

Underlying cause of Lesch-Nyhan

A

Deficiency of hypoxanthine-quanine phophoribosyltransferase leads to uric acid in body fluids

163
Q

What does partial deficiency in HGPRT (enzyme involved in Lesch-Nyhan) lead to?

A

Gout

164
Q

Gender differences in Lesch-Nyhan?

A

Mostly male

165
Q

Early features of Lesch-Nyhan

A

Hypotonia

Delayed motor milestones

166
Q

By what stage do neurological signs develop in Lesch-Nyhan?

A

9 months

167
Q

What neurological signs develop in Lesch-Nyhan?

A

Spasticity
Choreo-athetoid movements
Hyperreflexia
Clonus

168
Q

How many people with Lesch-Nyhan have seizures?

A

50%

169
Q

Behavioural problems in Lesch-Nyhan

A

Uncontrollable self-injury

Physical and verbal aggression

170
Q

Physical problems in Lesch-Nyhan

A

Failure of sexual development
Kidney failure
Uric acid deposition

171
Q

When does self-injury occur in Lesch-Nyhan?

A

Ages 2-3

172
Q

Cause of death in Lesch-Nyhan

A

Kidney failure secondary to uric acid deposition or infection

173
Q

Incidence of Hunter

A

1:130,000 live births

174
Q

Inheritance of Hunter

A

X-linked recessive

175
Q

Inheritance of Lesch-Nyhan

A

X-linked recessive

176
Q

Cause of Hunter

A

Deficiency of iduronate sulfatase leading to accummulation of glycosaminoglycans

177
Q

When do sx of Hunters become noticeable?

A

After age of 1

178
Q

Features of Hunter

A 
Coarse face with flat nasal bridge
Flared nostrils
Ataxia
Joint stiffness
Growth retardation
179
Q

Physical features of Hunter

A 
Hearing loss
Hernias
Hepatosplenomegaly
Recurrent respiratory and ear infections
Cardiovascular abnormalities
180
Q

Behavioural features of Hunter

A

Hyperactivity
Delayed speech with loss of speech at 8-10 years
Restlessness
Sleep abnormalities

181
Q

LD in Hunters

A

Not all have LD but those who do have shorter life expectancy by 15 years

182
Q

Life expectancy in Hunters without LD

A

20-30

183
Q

Cause of death in Hunter

A

Neurodegenaration and physical complications of the disease

184
Q

Incidence of Cornelia de Lange

A

1/10,000-30,000

185
Q

What are majority of Cornelia de Lange cases due to?

A

Spontaneous gene mutations

186
Q

What genes are associated with Cornelia de Lange?

A

Multiple including mutation of NIPBL on chromosome 5

187
Q

How many cases of Cornelia de Lange are due to mutation of NIPBL on chromosome 5?

A

50%

188
Q

LD in Cornelia de Lange?

A

moderate or Severe

189
Q

Features of Cornelia de Lange

A 
Low birth weight
Small & delayed growth
Developmental delay
Microcephaly
Hypertrichosis
Long philtrum
Small, upturned nose
Downturned lips
Low set ears
Small hands and feet
190
Q

Behavioural problems in Cornelia de Lange

A

Self-stimulation
Aggression
Self-injury
Preference for strict routine

191
Q

Which physical problems is Cornelia de Lange associated with?

A 
GI - mainly reflux
Congenital heart defects
Visual & hearing problems
Skin problems
Epilepsy
192
Q

At what stage of pregnancy can fetal alcohol syndrome occur from alcohol use?

A

All 3 trimesters

193
Q

How many children are affected with Fetal alcohol syndrome?

A

1/00

194
Q

How many babies born in the Uk each year have fetal alcohol syndrome?

A

6000-7000

195
Q

What is significant alcohol use in pregnancy associated with in the developing fetus?

A

Cognitive impairment

196
Q

Features of fetal alcohol syndrome

A 
Microcephaly
Short palpebral fissues
Flat philtrum
Thin upper lip
Short stature
197
Q

Neurocognitive deficits in fetal alcohol syndrome

A 
Impulsivity
Hyperactivity
Concrete thinking
Visuospatial problems
Poor judgement
Poor impulse control
Memory deficits
198
Q

Incidence of congenital hypothyroidism

A

1/4000

199
Q

Gender differences in congenital hypothyroidism

A

More common in females

200
Q

Clinical features of congenital hypothyroidism

A 
Puffy face
Large, protruding tongue
Dry hair
Constipation
Low muscle tone
201
Q

Sx of congenital hypothyroidism if left untreated

A

Jaundice

Failure of cognitive development leading to LD

202
Q

How many people with epilepsy have LD?

A

30-40%

203
Q

Prevalence of epilepsy in LD patients

A

20-25%

204
Q

Prevalence of epilepsy in severe LD

A

30-50%

205
Q

Prevalence of epilepsy in mild LD

A

15-20%

206
Q

Prevalence of epilepsy in Downs

A

5-10%

207
Q

When can epilepsy be misdiagnosed in LD?

A

Sx of sudden, unexplained aggression, self-mutilation and other bizarre behaviours e.g. stereotyped movements,fixed staring, rapid eye blinking, exaggerated startle reflex, attention deficits and unexplained lethargy

208
Q

Seizures in Fragile X

A

Infrequent, mild, easily controlled and disappear by adolescence

209
Q

What are most seizures in Fragile X called?

A

Benign rolandic epileppsy

210
Q

How many patients with Retts have epilepsy?

A

90%

211
Q

How many patients with Angelman have epilepsy?

A

90%

212
Q

In which LD is epilepsy very common?

A

Retts
Angelman
Late stages of neuronal ceroid lipofuscinoses
Sialidosis Type 1
Tay-achs
Type 3 Gauchers
Mitochondrial encephalopathy with lactic acidosis and strokes
Myoclonic epilepsy with ragged red fibres

213
Q

In which patients are behavioural problems secondary to antiepileptics common?

A

Brain injury

LD

214
Q

Which antiepieptics may cause behavioural problems?

A

Phenobarbitone
Primidone
Benzos
Vigabatrin

215
Q

When do infantile spasms typically occur?

A

4-6 months

216
Q

In how many children with infantile spasms do they occur in the first year?

A

90%

217
Q

Describe infantile spasms

A

Resemble Moro reflex with sudden, brief flexion of neck and trunk, raising both arm forwards, flexion at elbows and flexion of legs at the hips.

218
Q

What might be the only feature of infantile spasms at the early stage?

A

Neck flexion

219
Q

EEG of infantile spasms

A

Slow waves of high voltage intermixed with diffuse or asynchronous spikes in both hemispheres or contralateral hemisphere if unilateral

220
Q

What is the name of the EEG in infantile spasms?

A

Hypsarrhythmia

221
Q

What is West syndrome?

A

Triad of infantile spasm, hypsarrthymias and LD

222
Q

What is Lennox Gestaut syndrome associated with?

A

LD

Multiple generalised seizures - tonic, clonic and absence

223
Q

EEG in Lennox Gestaut syndrome?

A

Multiple spikes

Paper B targeted revision (23 decks)

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