Notes from Elizabeth Roof's Presentation

This is a longer version of Lauren Schwarz Roth's notes from the FPWR conference:

Foundation for Prader Willi Conference September 12^th, 2010  Bethesda, MD

Elizabeth Roof M.S. Presentation

Vanderbilt Kennedy Medical Center, Nashville TN

PRADER WILLI SYDROME: Behavior, Development & Family Stress

I.  Review of Genetics:

- Type I deletion is a larger deletion of the paternal chromosome, which includes the PWS critical region and four additional genes.

- Type II deletion is a slightly smaller deletion that includes the PWS critical region

- PWS by UPD occurs when there is no paternal chromosome, just two chromosome 15s from the mother.

- PWS by imprinting mutation means there was a change on the paternal chromosome so that it behaves as if it was inherited from the mother.

What do these genes do?

-       may change how the hypothalamus works affecting temperature regulation, eating behavior, sleep, growth, and sex hormones

-       may cause neurochemicals and neuropeptides to work differently affecting serotonin, ghrelin and oxytocin

-       may cause poor emotional regulation leading to rages, outbursts and mood swings.

II.  Food Seeking and Overating

- Usually occurs between ages of 2 and 6 but may occur much later.

            - Impaired satiety response is NOT a matter of will power.

- Brain dysfunction related to satiety is abnormal, there is a marked delay in satiety signals.

- Neuroscience studies demonstrate abnormal serotonin, oxytocin, and ghrelin..

Food ideation in persons with PWS:

Many persons with PWS say they know what they can and cannot eat but their behavior doesn’t reflect that. They are aware of what is socially appropriate and boundaries but can’t follow it in practice. 

Research Study (Dykens, et al 2007) – showed persons with PWS pictures of food (regular food, unusual food combinations and contaminated food)

-       EEG (brain) studies showed limited registration of the “typical” reaction to dirty or germy food; persons with PWS often know right answer but in real situation impulse takes over and they eat the food they know they should not eat.

III.  Non-food related Behavior Issues in PWS

- Repetitive questions about schedules

- Hoarding behaviors/Collect things – especially office supplies

- Have a certain way of doing tasks & often want/demand others to do it this way

- May write and re-write things over and over; erase things over and over

- Need to finish projects before can move on to next thing (can be problematic in school)

- Can be negative/pessimistic

- May hold grudges (often remember negative events more than positive ones)

PWS Behavior in subtypes:

            People with PWS Deletion tend to have more temper tantrums and skin picking

People with PWS-UPD tend to have higher verbal IQs but more vulnerable to autistic symptoms and psychotic symptoms.

Highest number of behavioral problems between ages of 20-29 BUT drop in severity and frequency of these behaviors in mid-adulthood (30-50 y.o) and this across all problematic behaviors.

IV. Families, Coping and PWS

Parents of Children with PWS and Autism experience highest levels of stress when compared to parents of other developmentally disabled children. Mothers of children with PWS reported a 2-fold increase in stress/distress. These parents also report high levels of headaches, insomnia, low back pain, fatigue and high blood pressure.  High levels of stress may be leading to immunes system effects. Stress and cortisol (an indicator of stress) levels in PWS mothers were associated also with higher levels of anxiety, and an avoidant coping style.

Highest levels of stress and distress in parents when there is higher level of “maladaptive behaviors” in children with PWS such as compulsive behaviors, verbal perseveration and skin picking.

Some families are doing very well but not sure why or how.  Need more research to examine the factors that lead to better coping and health in these families. 

Current research studies on parent support groups and parent mentors (Dykens, Roof, et al.) are on going.  One study currently in progress is looking at the usefulness of Mindfulness Based Stress Reduction strategies for PWS parents which include:

- Meditation/Breath work

- Being in the current moment

- Movement (like Yoga)

- Being non-judgmental

Ms. Roof’s suggestions for parent coping in PWS:

-       focus on positive aspects of your child, strengths

-       keep problems in perspective: parent’s wishes and dreams vs. child’s

-       Create a support network (Very Important!)

-       Acknowledge your strengths and weaknesses

-       Take care of yourself physically and emotionally

-       Laugh!

My thoughts from the trenches as a PWS parent and clinical psychologist regarding coping:

-       Join a support group of mothers with special needs children (does not have to be PWS)

-       Avoid being an “avoidant coper” this seems to lead to significantly greater distress

Avoidance coping strategies include behavioral or cognitive efforts to keep from thinking about a stressful problem or situation (pretending it is not a problem, pushing away thoughts about the problem, not utilizing resources); Avoidant copers also tend to withdrawal from social support resources, do not ask for help from others, and can get very isolated or feel that “no one really understands”.  Avoidant copers may also rely heavily on alcohol or drugs (prescription or otherwise) to deal with the situation.

Proactive copers (who do better in general coping with any kind of illness or trauma in themselves or in a family member) tend to get involved with others in a similar situation, they gather a lot of information about the problem they are facing, they do something active related to their situation, they seek out and ask for help and support.