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

MRCPsych Paper B - Learning Disability Flashcards

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
Q

Frequency of epilepsy in Down syndrome

A

5-10%

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26
Q

Frequency of epilepsy in Fragile X syndrome

A

20-25%

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27
Q

Frequency of epilepsy in Rett syndrome

A

90%

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28
Q

Frequency of epilepsy in Angelman syndrome

A

90%

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29
Q

Frequency of epilepsy in Tuberous sclerosis

A

90%

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30
Q

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

A

20%

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31
Q

Clinical genetics: MECP2

A

Rett syndrome
@ chromosome X

32
Q

Clinical genetics: FMR1

A

Fragile X syndrome
@ chromosome Xq27.3

33
Q

Clinical genetics: microdeletion of chromosome 22 + ID + schizophrenia

A

Di George/ velo-cardio-facial syndrome

34
Q

Clinical genetics: NF1 gene

A

Neurofibromatosis/ von Recklinghausen disease
@ chromosome 17

35
Q

Clinical genetics: HGPRT gene

A

Lesh-Nyhan syndrome
@ chromosome Xq

36
Q

Clinical Genetics: NIPBL

A

Cornelia de Lange syndrome
@ chromosome 5

37
Q

Behavioral phenotypes: shyness, gaze avoidance, social anxiety

A

Fragile X syndrome

38
Q

Behavioral phenotypes: insatiable appetite, hyperphagia, obesity

A

Prader-Willi syndrome

39
Q

Behavioral phenotypes: self-hugging posturing, self-injurious behaviors - head banging

A

Smith-Magenis syndrome

40
Q

Behavioral phenotypes: hyperactivity, stubbornness, private speech

A

Down syndrome

41
Q

Behavioral phenotypes: schizophrenia like psychotic disorder

A

Di George/ velo-cranio-facial syndrome

42
Q

Behavioral phenotypes: prominent sleep disorder

A

Sanfillippo syndrome

43
Q

Behavioral phenotypes: early onset dementia in adulthood

A

Down syndrome

44
Q

Behavioral phenotypes: obsessive compulsive behaviour

A

Prader-Willi syndrome

45
Q

Behavioral phenotypes: shyness and social anxiety disorder

A

Fragile X syndrome

46
Q

Behavioral phenotypes: anxiety disorder and phobias

A

Williams syndrome

47
Q

Case: lens subluxation, marfanoid body

A

Homocystinuria
*hallmark is the lens subluxation

48
Q

Chromosome deletion: Cri-du-chat syndrome

A

chromosome 5p15.2

49
Q

Chromosome deletion: Di George/ velo-cardio-facial syndrome

A

chromosome 22q11.2

50
Q

Chromosome deletion: Angelman syndrome

A

chromosome 15q12 - maternal deletion

51
Q

Chromosome deletion: Prader Willi syndrome

A

chromosome 15q11-13 - paternal deletion

52
Q

Chromosome deletion: Rubinstein-Taybi syndrome

A

chromosome 16p13.3 - microdeletion

53
Q

Chromosome deletion: Smith Magenis

A

chromosome 17p11.2

54
Q

Chromosome deletion: Williams syndrome

A

chromosome 7

55
Q

Chromosome: Hurler syndrome

A

chromosome 4p16
*Low alpha-L iduronidase > GAG build up

56
Q

Chromosome: Sanfilippo syndrome

A

chromosome 17q25

57
Q

Chromosome: Phenylketonuria

A

chromosome 12
* Deficit phenylalanine hydroxylase

58
Q

Chromosome: Tuberous sclerosis

A

TSC1@ chromosome 9
TSC2 @ chromosome 16

59
Q

Chromosome: Neurofibromatosis

A

NF1 @ chromosome 17

60
Q

Chromosome & gene: Sturge Weber

A

GNAQ @ chromosome 9q

61
Q

Chromosome and gene: Cornelia de Lange

A

NIPBL @ chromosome 5

62
Q

Chromosome: Cri du chat

A

chromosome 5

63
Q

Chromosome: Turner syndrome

64
Q

Chromosome: XYY

65
Q

Chromosome: Trisomy X

66
Q

Chromosome: Klinefelter

67
Q

Deficiency in the enzyme phenylalanine hydroxylase

A

Phenylketonuria
> accumulation of phenylalanine

68
Q

Deficiency in the heparan sulfate

A

Sanfillipo syndrome

69
Q

Deficiency in the enyzme alpha-L iduronidase

A

Hurler’s syndrome
> accumulation of GAGs

70
Q

Deficiency in the enzyme iduronate sulfatase

A

Hunter’s syndrome
> accumulation of GAGs

71
Q

Deficiency in the enzyme hypoxanthine-guanine phosphoribosyl transferase

A

Lesch-Nyhan syndrome
> increase in uric acid leading to gout

72
Q

Product deficiency in Sanfillipo syndrome

A

Heparan sulfate

73
Q

Enzyme deficiency in Hurler’s syndrome

A

Alpha-L iduronidase
> accumulation of GAGs

74
Q

Enzyme deficiency in Hunter’s syndrome

A

Iduronate sulfatase
> accumulation of GAGs

75
Q

Enzyme deficiency in Lesch-Nyhan syndrome

A

Hypoxanthine-guanine phosphoribosyl transferase
> increase in uric acid leading to gout

76
Q

LD + infantile spams + hypsarrthymias (define)

A

West syndrome
*high voltage slow waves with diffuse asynchronous spikes

My MRCPsych Paper B (8 decks)

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