Prader-Willi Syndrome Flashcards
What is the genetic cause of PWS?
Loss of paternally derived genetic information:
- Deletion
- mUPD
- Defect of IC
Describe the physical phenotype of PWS.
- Short stature
- Small hands and feet
- Hypo-pigmentation
- Scoliosis
- Obesity
Describe the behavioural phenotype of PWS.
Lying/stealing repetitive behaviours excessive eating and food seeking temper tantrums mood fluctuation/arguing skin picking Excessive Daytime Sleepiness
What SIB is specific to PWS?
Which genetic cause is it more frequent in?
Skin picking (Arron et al., 2011) Deletion (vs mUPD)
What did Russell and Oliver (2003) find about eating in PWS?
Over-eating begins at 2 years when starvation mode beings, as babies with PWS do not suck/feed until 2 years.
How much more do those with PWS eat compared to controls?
3x (Holland et al., 1995)
Describe Hinton et al.’s (2005) study.
- Gave people with PWS a 1200 calorie breakfast.
- Half an hour later, they were hungry again
- Hunger brain regions activated in fMRI
- Suggests they are only briefly satiated
What repetitive behaviours are apparent in PWS? Which did Moss et al. (2009) find to be significant?
Hoarding Ordering Preference for routine *significant* Cleaning Repetitive Questions *significant*
What associations have been made between different aspects of the behavioural phenotype?
- Repetitive question and temper outbursts
What are the strengths and weaknesses in the PWS cognitive phenotype?
Strengths: academic achievement, visual processing
Weaknesses: maths, auditory processing, short term memory
What did Dykens (2002) find about PWS cognitive skills?
Higher jigsaw ability, possibly due to higher visual processing
What is one deficit of executive functioning in PWS?
Task-switching (Woodcock et al., 2016)
What did the Childhood Routines Inventory show about PWS?
- PWS scored higher in all areas
- Only significant in preference for routine and preferring things in a particular order
What did longer RTs in attention switching paradigm positively correlate with?
repetitive questions and adherence to routines
What usually follows a temper tantrum in PWS?
Sincere apologies: often can’t control emotions
What did Tunnicliffe et al. (2013) find?
Switching behaviours related to temper outburst: see precursor behaviours in difficult switching task alone
- switched between both activities to show it was not activity but switching which was the issue
What neural correlates are linked to compromised attention shift?
Fronto-parietal dysfunction
What intervention helps with task-switiching?
Use object to represent/signal change
What did Soni et al. (2008) find the mUPD subtype to be strongly associated with?
- Psychiatric illness
- 46/119 participants had history of psychiatric illness
- Deletion = depressive, mUPD = bipolar with psychotic
