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My MRCPsych Paper B > MRCPsych Paper B - Learning Disability > Flashcards

MRCPsych Paper B - Learning Disability Flashcards

(76 cards)

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1
Q

Case: 19yo history of epilepsy with skin depigmentaiton, white skin patches + severe ID + tumors in lungs and kidneys

A

Tuberous sclerosis
*ash leaf spots

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2
Q

Case: 12yo boy + long face, large ears + enlarged testes + short stature + speech abnormalities

A

Fragile X syndrome

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3
Q

Case: 6yo small skull, oblique upward slanted palpebral fissure + single transverse palmar crease

A

Down syndrome
*simian crease

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4
Q

Case: 3yo girl + normal milestones until 1yo + developmental decline (lost her milestones) + epileptic seizures, hand flapping, hand wringing

A

Rett syndrome

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5
Q

Case: 4yo boy + broad thumbs & great toes + fetal finger pads + beaked nose + rocking behavior + intolerance to loud noises

A

Rubenstein-Taybi syndrome

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6
Q

Behavioral phenotypes: stereotypic hand-wringing movements

A

Rett syndrome

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7
Q

Behavioral phenotypes: hyperactivity, cat-like cry

A

Cri-du-chat syndrome

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8
Q

Behavioral phenotypes: Self-injurious behavior and twirling

A

Cornelia de Lange syndrome

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9
Q

Behavioral phenotypes: social disinhibition and excessive friendliness, pseudomature language

A

Williams syndrome
*abnormal attachment

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10
Q

Behavioral phenotypes: attraction to water and laughing at minimal provocation

A

Angelman syndrome

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11
Q

LD condition affecting almost exclusively females

A

Rett syndrome

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12
Q

LD condition via mutation in gene for purine synthesis

A

Lesh-Nyhan syndrome
*hypoxanthine phosphoribosyl transferase → uric acid build up

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13
Q

LD condition that is the most common cause of inherited intellectual disability

A

Fragile X syndrome
*accounts for 1-12% ID in men

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14
Q

LD condition with central obesity, polydactyly, and night blindness

A

Laurence-Moon-Biedl syndrome

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15
Q

LD condition via microdeletion from maternal genetic source

A

Angelman syndrome
*chromosome 15 - maternal deletion

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16
Q

Proportion of ID cases caused by genetic inheritance

A

5%

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17
Q

Proportion of ID cases caused by pregnancy related and perinatal problems

A

10%

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18
Q

Proportion of ID cases caused by acquired general medical condition

A

5%

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19
Q

Proportion of ID cases caused by environmental influences

A

15-20%

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20
Q

Proportion of ID cases caused by no definite aetiology

A

30-40%

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21
Q

Estimated prevalence of schizophrenia from population based studies in individuals with ID

A

3%

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22
Q

Estimated prevalence of bipolar disorder from population based studies in individuals with ID

A

2-12%

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23
Q

Estimated prevalence of epilepsy (mild ID) from population based studies in individuals with ID

A

15-20%

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24
Q

Estimated prevalence of self-injurious behavior from population based studies in individuals with ID

A

10%

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25
Frequency of epilepsy in Down syndrome
5-10%
26
Frequency of epilepsy in Fragile X syndrome
20-25%
27
Frequency of epilepsy in Rett syndrome
90%
28
Frequency of epilepsy in Angelman syndrome
90%
29
Frequency of epilepsy in Tuberous sclerosis
90%
30
Estimated prevalence of ADHD from population based studies in individuals with ID
20%
31
Clinical genetics: MECP2
Rett syndrome @ chromosome X
32
Clinical genetics: FMR1
Fragile X syndrome @ chromosome Xq27.3
33
Clinical genetics: microdeletion of chromosome 22 + ID + schizophrenia
Di George/ velo-cardio-facial syndrome
34
Clinical genetics: NF1 gene
Neurofibromatosis/ von Recklinghausen disease @ chromosome 17
35
Clinical genetics: HGPRT gene
Lesh-Nyhan syndrome @ chromosome Xq
36
Clinical Genetics: NIPBL
Cornelia de Lange syndrome @ chromosome 5
37
Behavioral phenotypes: shyness, gaze avoidance, social anxiety
Fragile X syndrome
38
Behavioral phenotypes: insatiable appetite, hyperphagia, obesity
Prader-Willi syndrome
39
Behavioral phenotypes: self-hugging posturing, self-injurious behaviors - head banging
Smith-Magenis syndrome
40
Behavioral phenotypes: hyperactivity, stubbornness, private speech
Down syndrome
41
Behavioral phenotypes: schizophrenia like psychotic disorder
Di George/ velo-cranio-facial syndrome
42
Behavioral phenotypes: prominent sleep disorder
Sanfillippo syndrome
43
Behavioral phenotypes: early onset dementia in adulthood
Down syndrome
44
Behavioral phenotypes: obsessive compulsive behaviour
Prader-Willi syndrome
45
Behavioral phenotypes: shyness and social anxiety disorder
Fragile X syndrome
46
Behavioral phenotypes: anxiety disorder and phobias
Williams syndrome
47
Case: lens subluxation, marfanoid body
Homocystinuria *hallmark is the lens subluxation
48
Chromosome deletion: Cri-du-chat syndrome
chromosome 5p15.2
49
Chromosome deletion: Di George/ velo-cardio-facial syndrome
chromosome 22q11.2
50
Chromosome deletion: Angelman syndrome
chromosome 15q12 - maternal deletion
51
Chromosome deletion: Prader Willi syndrome
chromosome 15q11-13 - paternal deletion
52
Chromosome deletion: Rubinstein-Taybi syndrome
chromosome 16p13.3 - microdeletion
53
Chromosome deletion: Smith Magenis
chromosome 17p11.2
54
Chromosome deletion: Williams syndrome
chromosome 7
55
Chromosome: Hurler syndrome
chromosome 4p16 *Low alpha-L iduronidase > GAG build up
56
Chromosome: Sanfilippo syndrome
chromosome 17q25
57
Chromosome: Phenylketonuria
chromosome 12 * Deficit phenylalanine hydroxylase
58
Chromosome: Tuberous sclerosis
TSC1@ chromosome 9 TSC2 @ chromosome 16
59
Chromosome: Neurofibromatosis
NF1 @ chromosome 17
60
Chromosome & gene: Sturge Weber
GNAQ @ chromosome 9q
61
Chromosome and gene: Cornelia de Lange
NIPBL @ chromosome 5
62
Chromosome: Cri du chat
chromosome 5
63
Chromosome: Turner syndrome
45, X
64
Chromosome: XYY
47, XYY
65
Chromosome: Trisomy X
47, XXX
66
Chromosome: Klinefelter
47, XXY
67
Deficiency in the enzyme phenylalanine hydroxylase
Phenylketonuria > accumulation of phenylalanine
68
Deficiency in the heparan sulfate
Sanfillipo syndrome
69
Deficiency in the enyzme alpha-L iduronidase
Hurler's syndrome > accumulation of GAGs
70
Deficiency in the enzyme iduronate sulfatase
Hunter's syndrome > accumulation of GAGs
71
Deficiency in the enzyme hypoxanthine-guanine phosphoribosyl transferase
Lesch-Nyhan syndrome > increase in uric acid leading to gout
72
Product deficiency in Sanfillipo syndrome
Heparan sulfate
73
Enzyme deficiency in Hurler's syndrome
Alpha-L iduronidase > accumulation of GAGs
74
Enzyme deficiency in Hunter's syndrome
Iduronate sulfatase > accumulation of GAGs
75
Enzyme deficiency in Lesch-Nyhan syndrome
Hypoxanthine-guanine phosphoribosyl transferase > increase in uric acid leading to gout
76
LD + infantile spams + hypsarrthymias (define)
West syndrome *high voltage slow waves with diffuse asynchronous spikes

My MRCPsych Paper B (8 decks)

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