About PWS

March 9, 2016

PWS-SymptomSquares

PRADER-WILLI SYNDROME (PWS)

Prader-Willi Syndrome (PWS) is a rare and very complex non-inherited genetic disorder in which several genes on the 15th chromosome are deleted or unexpressed. 

The common characteristics of PWS are small hands and feet, abnormal growth and body composition (small stature, very low lean body mass and early onset childhood obesity), hypotonia (weak muscles) at birth, insatiable hunger, extreme obesity and intellectual disability. In recent years, the syndrome has been genetically characterized as an abnormality of chromosome 15, and definitive diagnosis is now based on genetic testing.

PWS-SymptomSquares2

Where Prader-Willi Syndrome derived its name. Not from Prada handbags!

Andrea Prader and Heinrich Willi, two Swiss paediatricians, and Alexis Labhart, an internist, first described Prader-Labhart-Willi Syndrome in 1956. Together, they published the first report on what is known today as Prader-Willi Syndrome. In the report they described children with abnormalities including diminished foetal activity, feeding difficulties in infancy, poor muscle tone, underdeveloped sex organs, short stature, small hands and feet, cognitive impairment and a propensity to develop diabetes in adolescence and adulthood. The report led to further studies in the late 1960s, and many other discoveries about Prader-Willi syndrome.”

Information sourced from Healio Endocrinology Today  - http://www.pwsausa.org.basic-facts

PWS-SymptomSquares-Behaviours

Behaviours associated with PWS

Caregivers and educators can be greatly assisted by better understanding some of the behaviours associated with PWS. Research shows individuals with PWS have a high preference for routine and predictability. Individuals with PWS show a specific cognitive deficit in task switching which can be associated with displays of temper outbursts, repetitive questioning and behaviours.  This rigid thought processing can make daily tasks difficult.

To learn more about task switching follow the link.

http://www.katewoodcock.com/publications

 

PWS-SymptomSquares-Journey

NAVIGATING THE JOURNEY

Helping our children to navigate the difficult journey they have been handed requires a strength we never knew we had and never knew we would require and then more... Most people diagnosed with PWS require Occupational Therapy, Speech Therapy and Physio Therapy due to developmental delay and poor muscle tone. These appointments are time consuming and progress can often feel slow however, reaching milestones is so much more rewarding knowing how much work has been done to get there.  A strong support network is important.

PWS-SymptomSquares-GP

COMMON CHARACTERISTICS OF PWS

Some of the common characteristics of PWS include poor muscle tone, high pain tolerance, inaccurate body temperature regulation, behavioural issues, mild intellectual disability and an insatiable appetite. Illness can often be over looked as a result. Having a great GP and medical team is very important.                                                                                        

http://www.nichd.nih.gov/health/topics/prader-willi/conditioninfo/Pages/symptoms.aspx

 

PWS-SymptomSquares-Sleep

PWS and SLEEP

A slower metabolism has been linked to abnormal sleep patterns, also common in PWS. Individuals often suffer from excessive day time tiredness and broken/shortened night time sleep. Many children/adults have regular sleep studies to monitor sleep patterns and respiratory issues. CPAP or BIPAP may be needed to assist with breathing at night if Obstructive Sleep Apnoea is present.

 

 

PWS-SymptomSquares-Metabolism

PWS and METABOLISM

Individuals with PWS have a significantly slower metabolism. Together with an insatiable appetite it is not a good combination. Food security and weight management are very important. Diet and activity are paramount in reaching/maintaining optimum health. The required energy intake for adults with PWS if about 60% of the daily recommended energy intake – this is to maintain weight – less if weight loss if required.

Http://www.pws.asn.au/NeedToKnowNutrition.pdf

 

 

PWS-SymptomSquares-FoodSecurity

PWS and FOOD SECURITY

 

It is the carer’s responsibility to maintain an environment that is free from food temptation. An insatiable appetite is not unlike an addiction and individuals will go to any lengths to obtain food and willpower is not a factor. Discipline is not appropriate when the opportunity to access food is taken. No doubt, No chance, No disappointment   It may sound harsh but is the mantra of most of the PWS Community.      

No Doubt : A rigid schedule (not necessarily time) when meals and snacks will be available.                               

No Chance : There will be no other extra snacks outside set times, nor opportunity to access food.     

No Disappointment : If the option isn’t available to access food or change routine there will be no disappointment.

Food security is a must.

This formula is necessary to help those with PWS to concentrate on other things beside food and gives carers a mutual set of rules to stick too.

Dr. Janice Forster

 

11. PWS-SymptomSquares-Dental

PWS and DENTAL HEALTH

Dental Health is a common concern for those who have PWS - due to thicker saliva causing premature erosion of enamel, weakening teeth. Regular dental check-ups are necessary.  Teeth grinding and rumination are also common. Sealant and fluoride treatments have been helpful at decreasing cavities. It is important to teach good brushing technique and enlist a good oral hygiene specialist.

10.PWS-SymptomSquares-IPWSO

IPWSO - International Prader-Willi Syndrome Organisation

IPWSO works together with families and professionals from around the world, helping support, inform and educate people about PWS. They provide information and support to families, caregivers, educators and medical professionals internationally.

http://www.ipwso.org/

12.PWS-SymptomSquares-Socialising

PWS, SOCIALISING AND ISOLATION

Below is a link for 101 tips that may be useful for family, friends and caregivers who have regular contact with someone living with PWS. Many individuals with PWS and their families find living with PWS can be isolating at times. Social occasions and visiting can be difficult due to factors such as food temptations and food security, change of routine, location and timing. It can make a significant difference if even some of these things are considered when hosting an event/occasion.

http://www.fpwr.ca/101-prader-willi-syndrome-tips/

13.PWS-SymptomSquares_BehaviourMgt

BEHAVIOUR MANAGEMENT

Behaviour management should be intervention/prevention orientated. Individuals with PWS respond well to good humour, kindness, and affection, respect and positive interactions. Behaviour plans can be a great resource for everyone.

14.PWS-SymptomSquares-EmotionalSkills

EMOTIONAL SKILLS

Deficits in social and emotional skills, problem behaviours and environmental factors make learning difficult for people with PWS. Finding education and work environments that best understand and suit the needs of the individual is important. It is of great importance to recognise and assist with sensory processing issues.

http://www.cddh.monash.org/assets/prader-willi.pdf

15.PWS-SymptomSquares-Anxiety

TEMPER TANTRUMS

Temper tantrums don't get left behind in early childhood, they grow into full scale meltdowns. Changes in routine, sensory overload, inability to express anxiety or emotions are just a few examples of triggers that may cause a major meltdown.  Meltdowns can last for several hours. These meltdowns can often resolve quickly leaving family members utterly exhausted. Behaviours during a meltdown can include refusing to communicate or move, uncontrollable screaming, self-harm, violence and crying. As people with PWS can be highly anxious all the time they are often on the edge of a meltdown, sometimes with very little seemingly the cause. 

Behaviour management should be intervention/prevention orientated. Individuals with PWS respond well to good humour, kindness, and affection, respect and positive interactions. Behaviour plans can be a great resource for everyone.

16.PWS-SymptomSquares-Scoliosis

SCOLIOSIS

Children with PWS are at an increased risk of developing scoliosis, between 40 and 90%. Approximately 15% of those will develop severe curves requiring bracing or surgery. Early detection plays a big part in treatment choice. Often bracing or casting can prevent or delay surgery. A full body brace is required to be worn 23 hours per day, every day and casting is sometimes needed for years, depending on the child’s age and degree of curvature. If scoliosis is suspected a consult with an orthopaedic specialist is recommended.

http://www.scoliosis-australia.org/scoliosis/about_scoliosis.html

17.PWS-SymptomSquares-LifeExpectancy

LIFE EXPECTANCY

Due to advances in research, medical treatment and early intervention the life expectancy of individuals with PWS has greatly increased. Without proper healthcare, nutritional guidance and lifestyle choices to support needs life expectancy can be greatly reduced.

There is NO CURE. But there is hope. There is research, studies and trials happening worldwide. Thanks to places such as the Garvan Institute (Aus), Foundation for Prader Willi Research (USA), and University of Birmingham (UK) and more recent;y the Prader-Willi Research Foundation Australia just to name a few....we have hope.

18.PWS-SymptomSquares-Independence

INDEPENDENCE & HOUSING

“Independence" for an adult with PWS is not usually moving out by themselves to be the head of a household.  As with any adult they want to be loved, love others in a family, have meaningful jobs and activities where their contributions matter, to have companionship and independence. To have the correct support in place to provide these things is vital. While some individuals find a fulfilling home life with family or in supported living accommodation, lack of housing/accommodation options in Australia, for individuals with PWS is a major issue. Young people and adults living with PWS are in desperate need for suitable housing and FUNDING to live. 

Help us improve the standards of care and quality of life of our young people.

The PWS Better Living Foundation has been established to address future housing needs of young people and adults living with PWS and to find a solution.  

For more information: www.pwsbetterliving.com.au

19.PWS-SymptomSquares-GrowthHormone

GROWTH HORMONE

Growth Hormone has many benefits for individuals with PWS. While it is now easily accessible in Australia through the PBS for all children diagnosed with PWS it is not available after the age of 18. Growth Hormone helps improve many things such as increasing lean body mass and reducing body fat, improved pulmonary function, resting energy expenditure and increased strength and agility. So what about the adults? All the previously mentioned improvements would also benefit adults, these needs do not change just because of age. Growth Hormone needs to be accessible for ALL individuals with PWS.

Here is some further information regarding GH and PWS

http://www.racgp.org.au/afp/2013/januaryfebruary/prader-willi-syndrome/

20.PWS-SymptomSquares-Siblings

SIBLINGS

We would like to acknowledge all the wonderful siblings, and thank them for their support.  Living with someone who has PWS can have a huge impact on families. It has been shown there is a higher divorce rate amongst parents of children with additional needs. The relationship between parents and siblings is often strained.    

Typical siblings of children with PWS often show moderate to severe symptoms of Post-Traumatic Stress Disorder.  Today we would like to acknowledge all the wonderful siblings, and thank them for their support.  

http://essentialistherapeutics.com/for-patients/prader-willi-syndrome/

For more sibling information or support follow the link below

http://siblingsaustralia.org.au/

21.PWS-SymptomSquares-Education

EDUCATION

Education is an important right for ALL children. Typically children spend around 12-13 years in the education system, from kindergarten to year 12, not to mention university. Imagine living with the daily challenges of PWS in a school environment. Students face physical, social and academic struggles, many will require assistance through an aide. Constant supervision and provision of a safe environment is essential. Funding for an aide is a difficult ongoing process which can be an exhausting battle parent should not have to fight for.  Every child has the right to an education and resources need to be made available so this can happen.

22.PWS-SymptomSquares-Spectrum

THE SPECTRUM OF PWS

Prader-Willi Syndrome is a very complex condition, a spectrum disorder, meaning not everyone will be affected the same way. Some people may be mildly affected while for others the impact may be severe. This not only applies to the syndrome and its characteristics, but each symptom can vary greatly also. Another reminder of just how unique everyone is.

23.PWS-SymptomSquares-Speech

PWS & SPEECH

Speech disorders can occur in as many as 70% of individuals with PWS. Expressive language has been found to be more impaired than receptive language.

24.PWS-SymptomSquares-Temperament

TEMPERAMENT

Some strengths often displayed by individuals with PWS include friendly and sociable personality, strong memory, sense of humour, determination, kindness, caring and helpful.