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1. Child and Adolescent Psychiatry > Genetic Disorders > Flashcards

Genetic Disorders Flashcards

1
Q

what is the most common cytogenetic cause of intellectual disability

A

trisomy 21/down syndrome

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2
Q

children with what genetic disorder may be musically gifted

A

Williams syndrome

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3
Q

what genetic disorder is associated with PROGRESSIVE intellectual disability

A

tuberous sclerosis

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4
Q

individuals with what genetic disorder may be described by the following phenotypic features:

narrow forehead

almond shaped eyes

obesity

hypogonadism

small stature

hypotonia

small hands and feet

fair skin

light hair

A

prader willi

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5
Q

what is the “classic triad” of abnornalities seen in DiGeorge syndrome

A

conotruncal cardiac abnormalities
+
hypoplastic thymus
+
hypocalcemia

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6
Q

individuals with what genetic disorder may be described by the following phenotypic features:

low set posteriorly rotated ears

bulbous nasal tip

cleft palate

smooth filtrum

A

DiGeorge syndrome

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7
Q

DiGeorge syndrome is caused by what genetic abnormality

A

22q11 deletion

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8
Q

what is the prevalence of DIGeorge syndrome

A

1/4000

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9
Q

what psychiatric abnormality is present much more commonly in those with DiGeorge syndrome than in the general population

A

schizophrenia (40% above age 25–others say 25% have it)

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10
Q

what is the psychiatric phenotype of DiGeorge syndrome

A

schizophrenia

intellectual disability

learning disorders

ADHD

anxiety

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11
Q

individuals with what genetic disorder may be described by the following phenotypic features:

short stature

broad forehead

widely spaced teeth

full/prominent lips

elfin like facies

stellate iris

A

Williams syndrome

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12
Q

what is the genetic abnormality that causes Williams syndrome

A

autosomal DOMINANT chromosome 7 deletion

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13
Q

how common is williams syndrome

A

K&S–> 1/20 000
Ottawa lecture–> 1/7500

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14
Q

what are some psychiatric manifestations of Williams Syndrome

A

ADHD

intellectual disability

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15
Q

in which genetic disorder might you observe severe self-mutilation

A

Lesch-Nyhan syndrome

*severe self biting behaviour

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16
Q

what is the second most common single gene cause of ID

A

fragile X

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17
Q

those with down syndrome have higher risk of developing what psychiatric disorders

A

alzheimers

MDD

SCZ

bipolar

autism

*also poor language development

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18
Q

what testing should be done once a couple has a child with down syndrome

A

testing parents for translocation to predict recurrence risk

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19
Q

individuals with what genetic disorder may be described by the following phenotypic features:

cafe au lait spots

cutaneous neurofibromas

Lisch nodules

short stature

macrocephaly

A

neurofibromatosis

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20
Q

is Rett syndrome stable or degenerative

A

degenerative

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21
Q

how does Rett syndrome affect the respiratory system

A

disorganized breathing pattern

hyperventilation

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22
Q

individuals with what genetic disorder may be described by the following phenotypic features:

wide smiling mouth

pointed chin

small head circumference

fair hair

blue eyes

A

Angelman syndrome

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23
Q

does Angelman syndrome cause ID

A

yes–> profound

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24
Q

how might a child with Angelman syndrome present

A

happy disposition

laughing

hand flapping

clapping

love of water (anecdotal)

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25
Q

how common is Angelman syndrome

A

1/20 000 births

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26
Q

what genetic abnormality results in Angelman syndrome

A

autosomal DOMINANT DELETION on long arm of chromosome 15

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27
Q

what genetic disorder is associated with hyperphagia

A

prader willi

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28
Q

what genetic abnormality results in prader willi

A

autosomal DOMINANT DELETION on long arm of chromosome 15 (paternal copy)
–> same gene as Angelman syndrome

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29
Q

what % of chromosome 15 deletions leading to prader willi are sporadic

A

90%

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30
Q

what is the psychiatric phenotype of Prader Willi syndrome

A

ID

compulsive behaviours

hyperphagia/compulsive overeating

hoarding

impulsivity

lability

tantrums

skin picking (85%)

can have aggression

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31
Q

how does prader willi affect social functioning

A

can be friendly with good social functioning

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32
Q

what genetic disorder is associated with a hoarse voice and ++ sleep disturbance

A

Smith-Magenis

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33
Q

what genetic abnormality causes Smith-Magenis

A

microdeletion on chromosoem 17

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34
Q

which genetic disorder are known to result in autism

A

fragile X

Klinefelter

phenylkenonuria

tuberous sclerosis

Rett syndrome

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35
Q

what are the 3 sentinel facial features of FASD

A

short palpebral fissures

thin upper lip

smooth philtrum

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36
Q

what level of ID is associated with FASD

A

mild to moderate

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37
Q

what is the most preventable cause of ID

A

FASD

38
Q

how does the profundity of ID differ between males and females with Fragile X

A

mild in females

mod to severe in males

39
Q

what is the genetic abnormality that results in fragile X syndrome

A

x-linked RECESSIVE inactivation of FMR-1 gene due to CGG trinucleotide repeat >200

methylation

40
Q

what cardiac abnormality is associated with fragile X

A

mitral valve prolapse

41
Q

what is the psychiatric presentation of a child with Lesch-Nyhan syndrome

A

severe self biting behaviour

aggression

anxiety

42
Q

what is the psychiatric presentation associated with neurofibromatosis

A

distractible

hyperactive

impulsive

anxious

10% have moderate to profound ID

43
Q

around what age will you start noticing the degenerative changes of Rett syndrome

A

1 year

44
Q

what is the psychiatric presentation of tuberous sclerosis

A

epilepsy

autism

hyperactivity

impulsivity

aggression

self injurious behaviour

ID can range from none to profound

45
Q

what is the prevalence of tuberous sclerosis

A

1/10 000 births

46
Q

what genes are affected in tuberous sclerosis

A

autosomal dominant

complex 1–> chromosome 9

complex 2–> chromosome 16

47
Q

individuals with what genetic disorder may be described by the following phenotypic features:

benign tumours and malformations of CNA, skin, kidney, heart

A

tuberous sclerosis

48
Q

what medical abnormalities are associated with Williams syndrome

A

renal and CV abnormalities

thyroid abnormalities

hypercalcemia

49
Q

what genetic abnormality results in Williams syndrome

A

autosomal dominant chromosome 7 DELETION

50
Q

what genetic abnormality results in Rett syndrome

A

X linked dominant

51
Q

does Rett syndrome affect both males and females

A

only females

52
Q

what gene is affected in neurofibromatosis

A

NFI

53
Q

individuals with what genetic disorder may be described by the following phenotypic features:

ataxia

chorea

kidney failure

gout

A

Lesch-Nyhan

54
Q

individuals with what genetic disorder may be described by the following phenotypic features:

long face, narrow face

prominent jaw

large ears

high arched palate

short stature

macroorchidism

joint laxity

strabismus

A

fragile X

55
Q

what level of ID is associated with Lesch-Nyhan syndrome

A

mild to moderate

56
Q

individuals with what genetic disorder may be described by the following phenotypic features:

ataxia/gait disturbance

grimacing

bruxism

loss of speech

stereotypic hand movements

A

Rett syndrome

57
Q

what is the most common syndromic form of obesity

A

prader willi

58
Q

individuals with what genetic disorder may be described by the following phenotypic features:

continuous eyebrow

thin, down turning upper lip

microcephaly

short stature

small hands/feet

small upturned nose

malformed upper limbs

A

Corneila de Lange syndrome

59
Q

what is the psychiatric presentation of Cornelia du Lange syndrome

A

self injury

severe to profound ID

stereotyped movements

twirling

avoidance of being held

60
Q

individuals with what genetic disorder may be described by the following phenotypic features:

hypotonia

upward slanted palpebral fissures

epicanthal folds

wide nasal bridge

simian crease

short stature

small mouth, ears

excess skin at back of neck

A

trisomy 21/ down syndrome

61
Q

what medical problem is common in DIGeorge syndrome

A

immunodeficiency

62
Q

kids with what genetic condition avoid being held and like twirling

A

cornelia de lange syndrome

63
Q

what genetic abnormality results in cornelia de lange syndrome

A

DELETION on chromosome 5p

lack of PAPPA

64
Q

what is a mnemonic to remember the medical abnormalities associated with DiGeorge syndrome

A

CATCH-22

Cardiac Anomalies
Tcell deficits
Cleft palate
Hypocalcemia

65
Q

what temperament is associated with those with Down syndrome

A

passive

affable

hyperactivity in childhood

stubborn

66
Q

how does down syndrome affect intellectual functioning

A

moderate to severe ID

dementia in adulthood with increased prevalence from age 45

67
Q

what is the average life expectancy for those with down syndrome

A

60 years

68
Q

how common is down syndrome

A

average 1/1000 births

1/2500 if mom under 30

1/80 if mom 40+

69
Q

what genetic abnormality results in DiGEorge syndrome

A

chromosome 22q11.2 deletion

70
Q

what genetic abnormality results in cri du chat syndrome

A

autosomal dominant partial 5p deletion

71
Q

what level of ID is associated with cri du chat syndrome

A

severe

72
Q

what % of males with fragile X have ADHD

A

80%

73
Q

what are the psychiatric manifestations of fragile X

A

ADHD

stereotypies

gaze aversion

social avoidance

shyness

autism

74
Q

individuals with what genetic disorder may be described by the following phenotypic features:

epicanthal folds

slanting palpebral fissues

low set ears

micrognathia

broad flat nose

A

cri du chat syndrome

75
Q

what are the psychiatric manifestations of cri du chat syndrome

A

infantile cat like cry

stereotypies

self injury

76
Q

what medical issues are associated with down syndrome

A

thyroid abnormalities

congenital heart disease

hearing difficulties

77
Q

how does fragile X syndrome progress across the lifespan

A

worsens in puberty

78
Q

what is a relative maintained strength for those with fragile X

A

social/communication skills

79
Q

what is the genetic abnormality that results in Lesch-Nyhan syndrome

A

x linked recessive–> enzyme involved in purine metabolism

80
Q

what is the genetic abnormality that causes Turner syndrome

A

XO

81
Q

what is the genetic abnormality that causes Klinefelter’s syndrome

A

XXY

82
Q

what is the genetic abnormality that causes Marfans

A

autosomal dominant

defective fibrillin-1 glycoprotein

83
Q

what medical abnormalities are associated with PKU

A

ezcema

vomiting

seizures

abnormal movements

84
Q

individuals with what genetic disorder may be described by the following phenotypic features:

short stature

obesity

shield-shaped chest

cubitus valgus

webbed neck

gonadal agenesis

A

turners syndreom

85
Q

what CV abnormaity is associated with turners syndrome

A

coarctation of the aorta

86
Q

is there significant ID with turners syndreom

A

no–> maybe poor attention/memory

87
Q

what is the treatment for turners syndrome

A

estrogen

88
Q

what is the treatment for PKU

A

low phenylalanine diet –> even with this, people have difficulties

89
Q

what is the psychiatric presentation of PKU

A

severe ID if untreated

erractic, unpredictable behaviour

poor communication

autism

90
Q

what disorder is associated wtih “ash leaf spots”

A

tuberous sclerosis

91
Q

individuals with what genetic disorder may be described by the following phenotypic features:

low birth weight and poor growth

drooling

microcephaly

skin tags

A

cri du chat

92
Q

which genetic disorder is associated with paroxysmal laughter

A

angelmans

1. Child and Adolescent Psychiatry (32 decks)

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