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Prader Willi Syndrome (treatment (behavioural therapy (teach social skills…
Prader Willi Syndrome
treatment
drugs + surgical treatments to suppress hunger aren't effective
could be disorder of brain satiety system
dietary restriction--carefully monitor food
growth hormone
behavioural therapy
teach social skills
most of the time dealing with food issues
symptoms
dysmorphic features
almond shaped eyes
narrow temples
strabismus
thin upper lip
physical characteristics
hypotonia
short stature
sexually immature puberty
behavioural characteristics
tantrums
inability to satiate
mild ID
compulsive skin picking
behavioural subtypes
obesity + food obsession
food interest obsession but can control
issues across development
infancy
failure to thrive--maybe bc hypotonia?
childhood
tend towards obesity
overeating
preoccupation with food
adulthood
risk of obesity increases
co-morbid psychiatric problems
mortality related to health risks
genetics/prevalence
rare:1/15k
genes
7 genes deleted or unexpressed on chromosome 15
imprinted genes
one copy is expressed and other is silenced by the addition of a
methyl group
usually father's is mutated and mother's is silent
if mother's is mutated = Angelman's syndrome
subtypes
deletion subtype
maternally imprinted
loss of material on Prader Willi Syndrome Critical Region
seizures and depressive disorder
maternal uniparental disomy subtype
2 chromosome 15 from mother, paternally imprinted
psychosis and ASD traits