The 7th IPWSO scientific conference

Taiwan 2010
Tony Holland
Cambridge Intellectual and Developmental Disabilities Research Group
www.CIDDRG.org
 Taiwan conferences
 Caregivers conference (paid support
workers)

 Families and people with PWS

 Scientific conference
 IPWSO scientific conference
AIMS

 To provide a forum for the presentation

and discussion of research;
 To advance our understanding of PWS;
 To inform interventions, policy and
practice to bring benefit to people with
PWS
 Taiwan conference
genetics
 The absence of expression of what gene(s) at
15q11-13 result in PWS? – HBII-85 snoRNA
(Sahoo et al 2008);
 Genetic studies from different countries
(Vietnam, Argentina, China, the Netherlands)
 Distribution across age of sub-types
 Genotype-phenotype investigations
 Genetic diagnostic technologies
 Taiwan conference
Eating disorder
 Voluntary fasting – a study of fasting at Yon Kippur. 20/27 children
and adults with PWS fasted most or all of the day (Benarroch et al,
Israel);
 Gut hormones – GLP-1 and PYY secretion – 9 with PWS, 12 obese
controls, 10 normal weight (Purtell et al, Australia);
 Exenatide (for Type 11 diabetes) – 8 with PWS and 8 obese controls
– double blind design – standardised meals – increase in fullness
but no change in appetite (Viardot et al, Australia);
 Vagus nerve stimulation – pilot study - 2 of 3 participants have had
VNS implanted – changes on brain scans but no change in eating
behaviour or weight as yet (McAllister et al, UK);
 Bariatric surgery (bilo-pancreatic diversion) – follow-up study – 2
showed some benefit, 4 no benefit – risks (Grugni et al, Italy)
 Taiwan conference
Behaviour
 Reality and fantasy - difficulties in developing
this skill - developmental in origin (Bregani et al,
Italy);
 Interpersonal relationships – 58 adults with PWS
in group homes – poor peer relationships – no
long term relationships – hierarchy – poor ability
to manage conflict (Schillinger et al, Germany);
 Temper outbursts, repetitive behaviours and
cognitive impairments (Woodcock et al, UK)
 Taiwan conference
Later life
 Neuropathological studies – evidence of brain
characteristics of Alzheimer’s disease (Swaab et
al, the Netherlands);
 All aged >40 yrs – 26/43 people seen – 3 with
evidence of decline; evidence also of increased
mortality rate (Whittington et al, UK);
 Semi-structured interview 102 adults (18-66 yrs)
– high rates of physical and psychiatric problems
(Sinnema et al, the Netherlands).
 The use of databases to support research
Family support database (USA PWSA)
Children’s database (Australia)
Endocrine database (France) and GH database (Pfizer)
Multi-centre database (USA)
The EU database:
 To enable the reliable and lawful collection,
management and analysis of data across many countries
thereby having sufficient numbers of people with PWS to
answer specific questions;
 Comparisons between countries allows the influence of
different educational, health and social care policies on
the lives of people with PWS to be investigated;
 Summary
 Genetics research – problematic – genetic
knock out mouse models
 Research on interventions
 Eating disorder
 Behaviour

 Social context of people’s lives

 International nature of research