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MRCPsych Part B > 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 &amp; 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 &amp; 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
LD in Turner X?
Not typically
26
IQ in Turner X?
Normal intelligence
27
How many people with Turner X have VSD or coarctation of aorta?
12%
28
What is Triple X syndrome also known as?
Trisomy X | XXX
29
Genetics of Trisomy X
Presence of extra C chromosome in each cell of human female
30
Incidence of Triple X
1:1000 female births
31
How many people with Triple X have mild LD?
60-70%
32
Features of Triple X
Delayed language development Motor coordination problems Accelerated growth until puberty Premature Ovarian failure
33
What psychiatric problems is Triple X associated with?
Anxiety | Increased incidence of schizophrenia
34
Other names for Klinefelters?
47,XXY | XXY
35
Incidence of Klinefelts
1:500 - 1:1000 live male births
36
Primary feature of Klinefelters
Sterility
37
Features of Klinefelters
Sparse body hair Hypogonadism Gynaecomastia
38
When does diagnosis of Klinefelters typically occur?
Puberty with variable degree of sexual characteristics
39
Height of those with Klinefelters?
Taller than average by 4cm | Thin build
40
Median IQ of Klinefelters
90 | most in 60-70
41
Behavioural features of Klinefelters
Less introvertive & assertive Less social Poorer school performance
42
In which academic areas do Klinefelters do poorly?
Reading | Spelling
43
Genetics of XYY
Human male has extra Y chromosome
44
Another name of XYY
47, XYY
45
Incidence of XYY
1:1000 male births
46
IQ of XYY
Lower than average
47
Behavioural features of XYY
Associated with behavioural problems
48
Name some sex chromosome disorders
Fragile X Turners Klinefelters XYY
49
Name some autosomal deletion and duplication disorders
``` Prader-Willi Angelmann Williams Cri-du-chat Smith-Magenis DiGeorge Rubinstein-Taybi ```
50
Genetics of Prader-Willi
Deletion or inexpression of 7 genes on chromosome 15q11-13 on paternal chromosome
51
M:F incidence of Prader-Willi
4:3
52
Incidence of Prader-Willi
1/10,000-1/25,000 live births
53
Early features of Prader-Willi
``` Hypotonia Lethargy Hypogonadism Breech/Caesarian Failure to thrive Excessive sleepiness Triangular mouth can cause feeding and swallowing problems ```
54
Childhood features of Prader-Willi
Increase in over-eating Insatiable appetite can lead to stealing food Sometimes consumption of unpalatable food
55
How many people with Prader-Willi have hyperphagia?
80%
56
Features of Prader-Willi in adulthood?
``` Obesity Hypotonia Infertility Hypogonadism Sparse pubic hair Extreme flexibility ```
57
IQ of Prader-Willi
<70 in 90%
58
Physical features of Prader-Willi
``` 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 ```
59
How many people with Prader-Willi have autistic features
15%
60
Life expectancy of Prader-Willi
Dependent on obesity and associated physical health problems
61
Genetics of Angelmann
Deletion in 15q12 of maternal origin
62
How many people with Angelman have a deletion in maternally derived chromosome 15
80%
63
Prevalence of Angelman
1/20,000-1/30,000
64
Clinical features of Angelman
``` Happy disposition Paroxysmal laughter Hand flapping Clapping Ataxia ```
65
LD in Angelman
Severe/profound
66
Facial features of Angelman
``` Fair hair and blue eyes Microcephaly Flattened occiput Long face Prominent jaw Wide mouth Widely-spaced teeth Thin upper lip Pointed chin ```
67
How many people with Angelman have fair hair and blue eyes?
66%
68
How many people with Angelman have epilepsy?
90%
69
EEG changes in Angelman
Characteristic with changes noted as early as age 3
70
Genetic cause of Williams
Deletion of around 25 genes from long arm of chromosome 7
71
Prevalence of Williams
1/7500-20,000
72
Characteristic feature of Williams?
Elfin-like facial appearance
73
Infants with Williams?
``` Irritable Feeding problems Failure to thrive Developmental delay Growth retardation ```
74
How many children with Williams have high serum calcium levels?
>60%
75
IQ in Williams?
40-80 | Average 56
76
Features of Williams
Short, growth retardation Premature wrinkling and sagging of skin Hoarse voice
77
What physical problems are associated with Williams?
Renal and thyroid Supravalvular aortic stenosis Hypercalcaemia
78
Behavioural features of Williams?
``` Anxious, fearful Hypersensitive or outgoing Sociable Disinhibited Excessively friendly ```
79
What skills are often better in Williams?
Verbal better than motor or visuospatial
80
Genetics of Cri-du-chat
Partial deletion at 5p15.2
81
How many deletions in Cri-du-chat are spontaneous?
85%
82
Origin of majority of Cri-du-chat deletions?
Paternal
83
Incidence of Cri-du-chat
1/15,000-1/50,000
84
M:F ratio of Cri-du-chat
4:3
85
Characteristic feature of Cri-du-chat
Infant has high-pitched cry that resembles a cat
86
Characteristics of Cri-du-chat
``` Pronounced microcephaly Round face with hypertelorism Epicanthal folds Slanting palpebral fissues Broad flat nose Low-set ears Micrognathia Dental malocclusion ```
87
LD in Cri-du-chat?
Severe-profound
88
Behavioural features of Cri-du-chat
Hyperactivity in children Stereotypies Self-injury Tantrums
89
Physical diseases associated with Cri-du-chat
Respiratory & ear infections Congenital heart disease GI abnormalities
90
Incidence of Smith-Magenis
1:25,000
91
Genetics of Smith-Magenis
Complete or partial deletion of 17p11.2
92
LD in Smith-Magenis
>75% have mild-moderate LD
93
Features of Smith-Magenis
``` 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
Behavioural features of Smith-Magenis
Severe self-injury Sleep disturbance (decreased REM) Behavioural problems Reduced sensitivity to pain and heart
95
What is severity of cognitive impairment correlated with in Smith-Magenis?
Size of 17p11 deletion
96
Genetics of DiGeorge
Microdeletion of 11q11.2
97
How many incidence of DiGeorge arise denovo?
90%
98
How many people with DiGeorge have an affected parent?
10%
99
Prevalence of DiGeorge
1/4000
100
LD of DiGeorge
Mild/moderate
101
Physical abnormalities associated with DiGeorge
``` 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
Facial features of DiGeorge
``` 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
Other features of DiGeorge
``` Seizures Short stature Long, thin hands Hypotonia Hyperextensible fingers ```
104
Behavioural problems in DiGeorge
Difficulties with reciprocal social interaction | Blunted/inappropriate affect
105
Psychiatric problems associated with DiGeorge
Schizophrenia-like psychosis
106
M:F ratio of Rubinstein-Taybi
1:1
107
Incidence of Rubinstein-Taybi
1/125,000-300,000 births
108
Genetics of Rubinstein-Taybi
Microdeletions in some cases at 16p13.3
109
Features of Rubinstein-Taybi
Short Broad thumbs and first toes Feeding difficulties in infants Seizures
110
LD in Rubinstein-Taybi
Moderate-severe
111
Facial features of Rubinstein-Taybi
``` Microcephaly Prominent nose Broad nasal bridge Hypertelorism Protsis ```
112
Physical problems in Rubinstein-Taybi
Congenital heart disease | EEG abnormalities
113
IQ of Rubinstein-Taybi
Performance IQ>verbal IQ
114
Behavioural features of Rubinstein-Taybi
``` Inattentive Distractible Expressive language difficulties Friendly disposition Propensity for self-stimulatory activities Intolerant of loud noises ```
115
Name some autosomal dominant conditinos
Tuberous sclerosis complex 1 and 2 (TS 1+2) Neurofibromatosis Type 1 (NF1) Sturge-Weber
116
M:F ratio of TS 1 +2
1:1
117
Clinical features of TS 1+2
Seizures - 90%
118
LD of TS 1+2
All degrees | 30% have no LD
119
First common feature of TS 1+2
'Salaam attacks' (infantile spasms)
120
Physical features of TS 1+2
Hamartomas of CNS Ash leaf spots Fibromas of nails Tumours in heart muscle & kidneys
121
What are Ash leaf spots?
Depigmented skin patches
122
Behavioural features of TS 1+2
``` Autism Hyperactivity Impulsivity Aggression Self-injury Sleep disturbances ```
123
M:1 of NF1
1:1
124
Genetics of NF1
Mutation of a gene on chromosome 17 which is responsible for control of all cell division
125
Physical problems associated with NF1
Tumours along CNS
126
IQ of NF1
50% have associated speech and language difficulties | Verbal IQ>performance IQ
127
LD in NF1
10% have moderate-profound LF
128
Behavioural features of NF1
Distractible Impulsive Hyperactive Anxious
129
Psychiatric associations with NF1
Anxiety and mood disorders
130
Diagnosis of NF1 as per National Institute of Health
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
Criteria for cafe au lait spots
>5mm diameter pre-pubertal | >15mm post-pubertal
132
What are Lisch nodules?
Pigmented iris hamartomas
133
Give examples of distinctive osseous nodules in NF1
Sphenoid dysplasia | Thinning of long bone cortex with or without pseudarthrosis
134
Clinical features of Sturge-Weber
LD Epilepsy Hemiparesis
135
What physical signs is Sturge-Weber associated with?
Port-wine stains and angiomas of meninges in temporal and occipital areas
136
Name some Autosomal Recessive disorders
Phenylketonuria (PKU) Hurler Sanfillipo Laurence-Moon-Biedl
137
Genetic cause of PKU
Deficit in phenylalanine hydroxylase enzyme activity which leads to build up of phenylalanine Caused by inborn error of impaired metabolism
138
How many children with PKU develop seizures
25% - generalised
139
Features of PKU
Microcephaly Hypopigmentation of skin Language delay Musty odour on skin
140
LD of PKU
Severe
141
Behavioural features of PKU
Hyperactivity | Self-injury
142
How is PKU managed
Restricting levels of phenylalanine through diet and medication
143
What causes Hurler?
Deficiency in enzyme alpha-L iduronidase leading to accumulation of glycosaminoglycans
144
Features of urler
Short | Developmental delay
145
Facial features of Hurler
Hirsuitism Corneal clouding Coarse facial features Large tongue
146
When is developmental delay evident in Hurler?
By end of first year Stop developing between ages 2-4 Mental decline and loss of physical skills after this
147
Which physical problem is Hurler associated with?
Hearing problems
148
Mortality in Hurler
Frequently before the age of 10
149
Cause of Sanfillipo
Disorder of breakdown of heparan sulphate
150
Incidence of Sanfillipo
1/70,000 births
151
LD in Sanfillipo
Severe
152
Features of Sanfilippo
``` Claw hand Dwarfism Hypertrichosis Joint stiffness Biconvex lumbar vertebrae ```
153
Physical problems associated with Sanfillipo
Hearing loss | Hepatosplenomegaly
154
Behavioural problems in Sanfillipo
Restlessness Sleep problems Challenging behaviour
155
Prognosis of Sanfillipo
Poor | Most die between ages of 20-30 from respiratory tract infections
156
Genetics of Laurence-Moon-Biedl syndrome
``` Associated with multiple loci: 11q13 11q21 15q22 3p13 ```
157
LD of Laurence-Moon-Biedl
Mild to moderate
158
Features of Laurence-Moon-Biedl
``` Retinitis pigementosa Night blindness due to red cone atrophy Polydactyly Spastic paraplegia Hypogonadism NIDDM Renal problems ```
159
Name some X-linked recessive conditinos
Lesch-Nyhan | Hunter
160
Genetics of Lesch-Nyhan
Defect of long arm of X chromosome
161
Prevalence of Lesch-Nyhan
1/380,000-1/1,000,000
162
Underlying cause of Lesch-Nyhan
Deficiency of hypoxanthine-quanine phophoribosyltransferase leads to uric acid in body fluids
163
What does partial deficiency in HGPRT (enzyme involved in Lesch-Nyhan) lead to?
Gout
164
Gender differences in Lesch-Nyhan?
Mostly male
165
Early features of Lesch-Nyhan
Hypotonia | Delayed motor milestones
166
By what stage do neurological signs develop in Lesch-Nyhan?
9 months
167
What neurological signs develop in Lesch-Nyhan?
Spasticity Choreo-athetoid movements Hyperreflexia Clonus
168
How many people with Lesch-Nyhan have seizures?
50%
169
Behavioural problems in Lesch-Nyhan
Uncontrollable self-injury | Physical and verbal aggression
170
Physical problems in Lesch-Nyhan
Failure of sexual development Kidney failure Uric acid deposition
171
When does self-injury occur in Lesch-Nyhan?
Ages 2-3
172
Cause of death in Lesch-Nyhan
Kidney failure secondary to uric acid deposition or infection
173
Incidence of Hunter
1:130,000 live births
174
Inheritance of Hunter
X-linked recessive
175
Inheritance of Lesch-Nyhan
X-linked recessive
176
Cause of Hunter
Deficiency of iduronate sulfatase leading to accummulation of glycosaminoglycans
177
When do sx of Hunters become noticeable?
After age of 1
178
Features of Hunter
``` Coarse face with flat nasal bridge Flared nostrils Ataxia Joint stiffness Growth retardation ```
179
Physical features of Hunter
``` Hearing loss Hernias Hepatosplenomegaly Recurrent respiratory and ear infections Cardiovascular abnormalities ```
180
Behavioural features of Hunter
Hyperactivity Delayed speech with loss of speech at 8-10 years Restlessness Sleep abnormalities
181
LD in Hunters
Not all have LD but those who do have shorter life expectancy by 15 years
182
Life expectancy in Hunters without LD
20-30
183
Cause of death in Hunter
Neurodegenaration and physical complications of the disease
184
Incidence of Cornelia de Lange
1/10,000-30,000
185
What are majority of Cornelia de Lange cases due to?
Spontaneous gene mutations
186
What genes are associated with Cornelia de Lange?
Multiple including mutation of NIPBL on chromosome 5
187
How many cases of Cornelia de Lange are due to mutation of NIPBL on chromosome 5?
50%
188
LD in Cornelia de Lange?
moderate or Severe
189
Features of Cornelia de Lange
``` 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
Behavioural problems in Cornelia de Lange
Self-stimulation Aggression Self-injury Preference for strict routine
191
Which physical problems is Cornelia de Lange associated with?
``` GI - mainly reflux Congenital heart defects Visual & hearing problems Skin problems Epilepsy ```
192
At what stage of pregnancy can fetal alcohol syndrome occur from alcohol use?
All 3 trimesters
193
How many children are affected with Fetal alcohol syndrome?
1/00
194
How many babies born in the Uk each year have fetal alcohol syndrome?
6000-7000
195
What is significant alcohol use in pregnancy associated with in the developing fetus?
Cognitive impairment
196
Features of fetal alcohol syndrome
``` Microcephaly Short palpebral fissues Flat philtrum Thin upper lip Short stature ```
197
Neurocognitive deficits in fetal alcohol syndrome
``` Impulsivity Hyperactivity Concrete thinking Visuospatial problems Poor judgement Poor impulse control Memory deficits ```
198
Incidence of congenital hypothyroidism
1/4000
199
Gender differences in congenital hypothyroidism
More common in females
200
Clinical features of congenital hypothyroidism
``` Puffy face Large, protruding tongue Dry hair Constipation Low muscle tone ```
201
Sx of congenital hypothyroidism if left untreated
Jaundice | Failure of cognitive development leading to LD
202
How many people with epilepsy have LD?
30-40%
203
Prevalence of epilepsy in LD patients
20-25%
204
Prevalence of epilepsy in severe LD
30-50%
205
Prevalence of epilepsy in mild LD
15-20%
206
Prevalence of epilepsy in Downs
5-10%
207
When can epilepsy be misdiagnosed in LD?
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
Seizures in Fragile X
Infrequent, mild, easily controlled and disappear by adolescence
209
What are most seizures in Fragile X called?
Benign rolandic epileppsy
210
How many patients with Retts have epilepsy?
90%
211
How many patients with Angelman have epilepsy?
90%
212
In which LD is epilepsy very common?
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
In which patients are behavioural problems secondary to antiepileptics common?
Brain injury | LD
214
Which antiepieptics may cause behavioural problems?
Phenobarbitone Primidone Benzos Vigabatrin
215
When do infantile spasms typically occur?
4-6 months
216
In how many children with infantile spasms do they occur in the first year?
90%
217
Describe infantile spasms
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
What might be the only feature of infantile spasms at the early stage?
Neck flexion
219
EEG of infantile spasms
Slow waves of high voltage intermixed with diffuse or asynchronous spikes in both hemispheres or contralateral hemisphere if unilateral
220
What is the name of the EEG in infantile spasms?
Hypsarrhythmia
221
What is West syndrome?
Triad of infantile spasm, hypsarrthymias and LD
222
What is Lennox Gestaut syndrome associated with?
LD | Multiple generalised seizures - tonic, clonic and absence
223
EEG in Lennox Gestaut syndrome?
Multiple spikes

MRCPsych Part B (64 decks)

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