Psychiatric aspects in PWS

Tony Holland
Cambridge Intellectual and Developmental Disabilities Research Group
www.CIDDRG.org
 Outline
 Behavioural and psychiatric disorder in
people with PWS;
 The importance of assessment;
 Interventions to prevent, manage and to
treat behavioural and psychiatric problems
 PWS over the lifespan
Infancy
 Extreme hypotonia
 Failure to thrive
Childhood
 Developmental delay – intellectual disabilities
 Short statute – relative growth hormone deficiency
 Sexual immaturity – sex hormone deficiencies
 Over-eating - risk of severe obesity and its complications
 Scoliosis, respiratory disorders, maladaptive behaviours
Adulthood
 Increased risk of obesity (with greater independence)
 Age-related physical and psychiatric morbidity
PWS: behavioural and psychiatric
problems

 Eating disorder
 Repetitive and ritualistic behaviours

 Temper outbursts

 Skin picking

 Mood disorder

 Psychotic illness
Weight chart of young adult with PWS
PWS
 Fasting - High Cal Meal

 Fasting (in comparison to high cal meal) in those with

PWS resulted in greater activation in a similar network of
areas as fasting in those without PWS
Hypothalamus
Brain Region Left-Right t value
Hypothalamus L 6.59
Amygdala R 4.46
Insula
Brain Stem
Basal Ganglia R 4.84
Thalamus R 6.14
Anterior Cingulate R 3.57

Basal Ganglia
 Satiety Cascade

Blundell, 1991
 Summary of eating disorder
Implications for management

 Transition in early childhood;

 Over-eating a consequence of a failure of
satiation;
 Reasons for the above unknown –
presumed hypothalamic in origin
 Management (prevention of obesity):
 Knowledge
 Supervised access to food

 Diet and exercise

Repetitive and ritualistic behaviours
and temper outbursts

 Characteristics
 Reasons
 Management
Population-based Study of PWS
Repetitive and ritualistic behaviours
Symptom PWS contrast
(n=80) (n=36)
Ask/tell 36/80 (46%) 4/33 (14%) **
Routines 26/80 (32%) 4/33 (12%) *
Hoarding 19/80 (24%) 1/33 (3%) **
Repetitive 18/80 (23%) 3/33 (9%) NS
Ordering 11/80 (14%) 0 *
Cleaning 2/80 (2%) 0 NS
Counting 0 0
Checking 0 0

Clarke et al 2002 BJ Psych; 180-358

Repetitive and ritualistic behaviours and temper outbursts
in PWS

 Repetitive and ritualistic behaviours and temper

outbursts cluster together;
 Negative emotional behaviour and arousal
following change;
 Repetitive questions focused on the future and
occurred more frequently following change in
routine;
 Change produces high demand on mental
resources – in PWS specific deficit in task
switching.
PWS Courtesy of Woodcock, University

? of Birmingham, UK

Deficit in
attention
switching
UNEXPECTED
Brain functional CHANGE
abnormalities

Physiological
arousal

Temper outbursts

Repetitive questions
 Management of temper outbursts and
repetitive behaviours
 It is about management not a cure;
 Psychological/behavioural approach to
prevention and management;
 Routine (predictability)
 Structure

 Strategy
 Mental illness

 Prevalence
 Characteristics
 Treatment
 Soni et al 2008, Psychological Medicine, 38, 1505

Prevalence of psychiatric illness

Psychotic illness more common in mUPD than deletion

p<0.001, effect size 0.45

Deletion No psychopathology
Genetic subtype

71.8 11.8 16.5

(n=85)

History of non-psychotic
illness
History of psychotic symptoms
UPD (n=34) 35.3 2.9 61.8

0% 20% 40% 60% 80% 100%

Percentage of participants
 Mental illness in PWS
 Mood disorders can develop in later
childhood or early adult life:
 Change in behaviour and variable mood;
 Psychotic illness – hallucinations and
abnormal ideas (delusions);
 These illnesses correctly identified can be
treated
 Mental health
Key messages
 Persistent increase in behaviour problems
may indicate onset of affective disorder
(evaluation needed – evidence of change
in mental state);
 If a mood disorder has developed consider
the following:
 Medication in low doses depending on the
psychiatric diagnosis;
 Environmental factors that may be important
 Final messages
 The importance of assessment and observation;
 Be aware of possible physical and/or psychiatric
illnesses;
 Interventions based on assessment that
identifies the key issues;
 Follow-up carefully and re-evaluate as necessary