Genetic Disorders Flashcards by Alana Meikle

what is the most common cytogenetic cause of intellectual disability

trisomy 21/down syndrome

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children with what genetic disorder may be musically gifted

Williams syndrome

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what genetic disorder is associated with PROGRESSIVE intellectual disability

tuberous sclerosis

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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

prader willi

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

conotruncal cardiac abnormalities
+
hypoplastic thymus
+
hypocalcemia

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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

DiGeorge syndrome

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DiGeorge syndrome is caused by what genetic abnormality

22q11 deletion

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what is the prevalence of DIGeorge syndrome

1/4000

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

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

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what is the psychiatric phenotype of DiGeorge syndrome

schizophrenia

intellectual disability

learning disorders

ADHD

anxiety

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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

Williams syndrome

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what is the genetic abnormality that causes Williams syndrome

autosomal DOMINANT chromosome 7 deletion

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how common is williams syndrome

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

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what are some psychiatric manifestations of Williams Syndrome

ADHD

intellectual disability

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in which genetic disorder might you observe severe self-mutilation

Lesch-Nyhan syndrome

*severe self biting behaviour

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what is the second most common single gene cause of ID

fragile X

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

alzheimers

MDD

SCZ

bipolar

autism

*also poor language development

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

testing parents for translocation to predict recurrence risk

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

cafe au lait spots

cutaneous neurofibromas

Lisch nodules

short stature

macrocephaly

neurofibromatosis

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is Rett syndrome stable or degenerative

degenerative

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how does Rett syndrome affect the respiratory system

disorganized breathing pattern

hyperventilation

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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

Angelman syndrome

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does Angelman syndrome cause ID

yes–> profound

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how might a child with Angelman syndrome present

happy disposition

laughing

hand flapping

clapping

love of water (anecdotal)

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how common is Angelman syndrome

1/20 000 births

what genetic abnormality results in Angelman syndrome

autosomal DOMINANT DELETION on long arm of chromosome 15

what genetic disorder is associated with hyperphagia

prader willi

what genetic abnormality results in prader willi

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

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

90%

what is the psychiatric phenotype of Prader Willi syndrome

ID compulsive behaviours hyperphagia/compulsive overeating hoarding impulsivity lability tantrums skin picking (85%) can have aggression

how does prader willi affect social functioning

can be friendly with good social functioning

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

Smith-Magenis

what genetic abnormality causes Smith-Magenis

microdeletion on chromosoem 17

which genetic disorder are known to result in autism

fragile X Klinefelter phenylkenonuria tuberous sclerosis Rett syndrome

what are the 3 sentinel facial features of FASD

short palpebral fissures thin upper lip smooth philtrum

what level of ID is associated with FASD

mild to moderate

what is the most preventable cause of ID

FASD

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

mild in females mod to severe in males

what is the genetic abnormality that results in fragile X syndrome

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

what cardiac abnormality is associated with fragile X

mitral valve prolapse

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

severe self biting behaviour aggression anxiety

what is the psychiatric presentation associated with neurofibromatosis

distractible hyperactive impulsive anxious 10% have moderate to profound ID

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

1 year

what is the psychiatric presentation of tuberous sclerosis

epilepsy autism hyperactivity impulsivity aggression self injurious behaviour ID can range from none to profound

what is the prevalence of tuberous sclerosis

1/10 000 births

what genes are affected in tuberous sclerosis

autosomal dominant complex 1--> chromosome 9 complex 2--> chromosome 16

individuals with what genetic disorder may be described by the following phenotypic features: benign tumours and malformations of CNA, skin, kidney, heart

tuberous sclerosis

what medical abnormalities are associated with Williams syndrome

renal and CV abnormalities thyroid abnormalities hypercalcemia

what genetic abnormality results in Williams syndrome

autosomal dominant chromosome 7 DELETION

what genetic abnormality results in Rett syndrome

X linked dominant

does Rett syndrome affect both males and females

only females

what gene is affected in neurofibromatosis

NFI

individuals with what genetic disorder may be described by the following phenotypic features: ataxia chorea kidney failure gout

Lesch-Nyhan

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

fragile X

what level of ID is associated with Lesch-Nyhan syndrome

mild to moderate

individuals with what genetic disorder may be described by the following phenotypic features: ataxia/gait disturbance grimacing bruxism loss of speech stereotypic hand movements

Rett syndrome

what is the most common syndromic form of obesity

prader willi

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

Corneila de Lange syndrome

what is the psychiatric presentation of Cornelia du Lange syndrome

self injury severe to profound ID stereotyped movements twirling avoidance of being held

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

trisomy 21/ down syndrome

what medical problem is common in DIGeorge syndrome

immunodeficiency

kids with what genetic condition avoid being held and like twirling

cornelia de lange syndrome

what genetic abnormality results in cornelia de lange syndrome

DELETION on chromosome 5p lack of PAPPA

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

CATCH-22 Cardiac Anomalies Tcell deficits Cleft palate Hypocalcemia

what temperament is associated with those with Down syndrome

passive affable hyperactivity in childhood stubborn

how does down syndrome affect intellectual functioning

moderate to severe ID dementia in adulthood with increased prevalence from age 45

what is the average life expectancy for those with down syndrome

60 years

how common is down syndrome

average 1/1000 births 1/2500 if mom under 30 1/80 if mom 40+

what genetic abnormality results in DiGEorge syndrome

chromosome 22q11.2 deletion

what genetic abnormality results in cri du chat syndrome

autosomal dominant partial 5p deletion

what level of ID is associated with cri du chat syndrome

severe

what % of males with fragile X have ADHD

80%

what are the psychiatric manifestations of fragile X

ADHD stereotypies gaze aversion social avoidance shyness autism

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

cri du chat syndrome

what are the psychiatric manifestations of cri du chat syndrome

infantile cat like cry stereotypies self injury

what medical issues are associated with down syndrome

thyroid abnormalities congenital heart disease hearing difficulties

how does fragile X syndrome progress across the lifespan

worsens in puberty

what is a relative maintained strength for those with fragile X

social/communication skills

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

x linked recessive--> enzyme involved in purine metabolism

what is the genetic abnormality that causes Turner syndrome

what is the genetic abnormality that causes Klinefelter's syndrome

XXY

what is the genetic abnormality that causes Marfans

autosomal dominant defective fibrillin-1 glycoprotein

what medical abnormalities are associated with PKU

ezcema vomiting seizures abnormal movements

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

turners syndreom

what CV abnormaity is associated with turners syndrome

coarctation of the aorta

is there significant ID with turners syndreom

no--> maybe poor attention/memory

what is the treatment for turners syndrome

estrogen

what is the treatment for PKU

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

what is the psychiatric presentation of PKU

severe ID if untreated erractic, unpredictable behaviour poor communication autism

what disorder is associated wtih "ash leaf spots"

tuberous sclerosis

individuals with what genetic disorder may be described by the following phenotypic features: low birth weight and poor growth drooling microcephaly skin tags

cri du chat

which genetic disorder is associated with paroxysmal laughter

angelmans