Genetic Disorders Flashcards
what is the most common cytogenetic cause of intellectual disability
trisomy 21/down syndrome
children with what genetic disorder may be musically gifted
Williams syndrome
what genetic disorder is associated with PROGRESSIVE intellectual disability
tuberous sclerosis
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
what is the “classic triad” of abnornalities seen in DiGeorge syndrome
conotruncal cardiac abnormalities
+
hypoplastic thymus
+
hypocalcemia
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
DiGeorge syndrome is caused by what genetic abnormality
22q11 deletion
what is the prevalence of DIGeorge syndrome
1/4000
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)
what is the psychiatric phenotype of DiGeorge syndrome
schizophrenia
intellectual disability
learning disorders
ADHD
anxiety
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
what is the genetic abnormality that causes Williams syndrome
autosomal DOMINANT chromosome 7 deletion
how common is williams syndrome
K&S–> 1/20 000
Ottawa lecture–> 1/7500
what are some psychiatric manifestations of Williams Syndrome
ADHD
intellectual disability
in which genetic disorder might you observe severe self-mutilation
Lesch-Nyhan syndrome
*severe self biting behaviour
what is the second most common single gene cause of ID
fragile X
those with down syndrome have higher risk of developing what psychiatric disorders
alzheimers
MDD
SCZ
bipolar
autism
*also poor language development
what testing should be done once a couple has a child with down syndrome
testing parents for translocation to predict recurrence risk
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
is Rett syndrome stable or degenerative
degenerative
how does Rett syndrome affect the respiratory system
disorganized breathing pattern
hyperventilation
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
does Angelman syndrome cause ID
yes–> profound
how might a child with Angelman syndrome present
happy disposition
laughing
hand flapping
clapping
love of water (anecdotal)
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
XO
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
