FOI 24/25-0999 DOCUMENT 24
Prader-Willi syndrome Snapshot
This is a snapshot and is not designed to be a comprehensive guide. It provides general information about Prader-Willi syndrome (PWS) for NDIA staff and Partners. It is not to be distributed externally. Each person with PWS is an individual but there is a commonality of impairment. Beyond that, each has their own additional needs, preferences and experiences that will impact on the planning process.
In developing this resource, we consulted with Prader-Willi Syndrome Australia.
What is Prader-Willi syndrome? Prader-Willi syndrome (PWS) is a rare neuro-behavioural genetic disorder. It is a very complex, multistage disorder that permanently affects multiple systems in the body. PWS presents at birth and continues, with significant intensity, throughout life. It occurs equally in males and females.
People with PWS have a flaw in the part of the brain called the hypothalamus. This part of the brain is an important supervisory centre and hormone regulator. The hypothalamus when fully functioning, registers feelings of hunger and satiety (fullness). For individuals with PWS this does not occur and individuals with PWS never feel full. There is a constant pre-occupation with food accompanied by an overwhelming physiological drive to eat.
Currently there is no cure for PWS, although advances are being made through treatment with Growth Hormone. Most people with PWS require specialist support and a supervised diet for life. Generally, PWS is not inherited (except in 5% of cases) and can occur in any family. A suspected diagnosis of PWS is usually made by a physician based on clinical symptoms and a genetic test confirms a diagnosis of PWS. It is estimated that the incidence of PWS varies from 1:15,000 to 1:25,000 births.
Common characteristics and impacts of Prader-Willi syndrome
PWS significantly impacts the behaviour, mental, emotional and physical status of the people who have it. People with PWS have cognitive, social, emotional, behavioural and learning impairments, which limit their ability to manage daily living tasks, to work or participate in the community.
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In Australia, life expectancy for people with PWS is much lower than the rest of the population, with life expectancy less than 38 years of age. Morbid obesity results from overeating and can lead to a range of health complications and even death.
Compulsive eating and obsession with food usually begins in childhood. Consistent food security management is essential to maintain a healthy weight. Without supervision for the entirety of their life, individuals may die prematurely due to complications of obesity and other related co-morbidities. People with PWS are also at higher risk of diabetes, sleep apnoea, choking, and stomach rupture. The reduced vomiting reflex means that the ingestion of uncooked, spoilt or toxic substances can cause serious gastric complications.
There are however, environmental modifications and management strategies that can help reduce or manage some of the symptoms caused by PWS and improve a persons’ quality of life.
Food control relates to the management of access to food and beverages for a person with PWS. This may extend to locking kitchens and food storage areas. These are considered to be restrictive practices and need careful consideration taking into account the capacity of the person with PWS to make specific decisions about their eating.
Properly managed food security practices can significantly reduce the risk of harm due to overeating and can improve the quality of life and the life expectancy of a person with PWS.
For a person with PWS, access to money means access to food. It is important to make sure that there is sufficient support and supervision around money and budgeting. Someone with PWS doesn’t see taking other people’s money as ‘stealing’ but as an act of survival.
Although everyone with PWS is different, there are many characteristics that exist, to a greater or lesser degree, including:
Common Impairment Functional Impact Chronic feeling of hunger Constant food seeking behaviour. due to hyperphagia - lack Unusual metabolism and BMI: low-calorie diet of satiety. required. Obesity and related comorbidity. Morbid obesity and related Lifelong calorie restriction and exercise required. comorbidity caused by Difficulty to live an ordinary life due to mobility and excessive food seeking energy limitations. behaviour. Increased ill health over time, including diabetes, sleep apnoea and incontinence.
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Common Impairment Functional Impact Genetic malfunction of Unable to monitor their own health and wellbeing central nervous system, accurately. endocrine gland and High pain threshold; body temperature hypothalamus. abnormalities - altered temperature sensitivity. Overestimate their own ability or state of health. Do not perform as well in daily life as expected Global development from their IQ. delay: Risk to welfare due to impulsivity, very poor Learning/intellectual decision making and a limited ability to perceive disabilities (borderline consequences. to moderate). Low receptive and expressive language skills. Note: For the person with Problems with abstract thinking and concepts. PWS, IQ is not an accurate guide for the Difficulty understanding that what happens in one actual function and situation may not happen in another. comprehension level of Low short-term memory and auditory processing the person. The person skills makes it harder to learn at school or work. with PWS will have Rigid reliance on routines, lack of motivation, poor ‘pockets’ of more limited judgement, friction with others, lack of capability, with a concentration, reduced ability to learn, limited significant adverse impact ability to take responsibility or behave responsibly. on day to day functioning. Home environment may be very unsafe due to hoarding, food stealing, poor environmental hygiene levels. Deficits in executive brain Challenges with sequential processing, initiating or function; not good at effectively completing tasks from start to finish and planning and organising switching from one activity to another. and poor concept of time. Poor at assessing reality and recognising consequences. Interpersonal friction may be caused due to excessive risk taking, egocentric behaviour, lack of empathy and decision-making skills. Poor emotional and social Tendency to alienate others. development. Difficulty maintaining friendships or resolving conflicts and expressing feelings appropriately, particularly when anxious. Inappropriate behaviour in public due to failure to understand appropriate social conduct. Chronic behaviour Challenging behaviours tend to escalate with age. disturbance; centrally Complex behavioural problems, for example, driven maladaptive argumentative, aggressive and destructive actions, behaviours, characterised over-active, temper tantrums, obsessive- by constant high anxiety compulsive behaviour, stubbornness, rigidity,
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Common Impairment Functional Impact and extreme stress stealing, and lying (especially related to food), lying sensitivity. in a plausible way and exaggerating (confabulation), manipulation of responsible adults. Higher risk of developing Psychosocial impairments including; mental health problems in lack of motivation adolescence and early poor self-care adulthood, including low volition (deciding and committing to a depression, bipolar course of action) disorder and psychosis. lack of judgement irritability. Atypical physical features Often unable to participate with peers in energetic (especially if no growth activities. hormone treatment): Self-esteem and self-image often affected. Short stature Often impacts how others react to them (adults Small hands and feet. treated as children; older children treated as younger children). Very low muscle tone Speech difficulties (Dyspraxia); require alternative (Hypotonia). communication techniques. Delayed developmental milestones. Prone to tripping and falls. Reduced ability and desire to engage in exercise. Reduced vomit reflex. Complications due to severe constipation. Gait and mobility difficulties. Delayed or incomplete Social difficulties; hormone replacement program puberty (Hypogonadism). required. Sleep disturbance. High risk of obstructive sleep apnoea and daytime sleepiness. Affects day to day performance and ability to participate. Requires consistent monitoring and management (for example, using CPAP machine). Skin picking - open sores Easily becomes a habit due to the disabling effects and bruises can lead to of high anxiety and sensory stimulation. life-threatening infection. Scratching and picking at the skin, sometimes triggered by insect bites or other skin lesions which leads to skin infections and scarring. Communication difficulties Articulation difficulties - Fluency issues or stuttering. Significant language delay/disorder. Most people with PWS have receptive or expressive language difficulties or both.
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Common Impairment Functional Impact Impaired pragmatic language skills. The veracity of their language is often further diminished due to fictitious disorder/confabulation and perseveration.
Every person with Prader-Willi syndrome needs specialist support and treatment. The complexities of PWS require interventions from a variety of providers to maintain daily functioning and wellbeing including behavioural support, medical specialists and allied health professionals throughout the person’s life.
Myths and misunderstandings
Myth Fact
Yes, but no; it is officially called ‘confabulation’. To the outside world, this seems like lying. But it is a People with PWS tell direct result of their disability. People with PWS can lies. form a belief and can’t be shaken from it, even in the face of evidence to the contrary. Arguments will only result. Authority figures should always corroborate information before making important decisions, rather than relying on the word of the person with PWS.
All people with PWS have planning and organisational deficits that mean they cannot safely Some people with or reliably put good ideas into completed actions (for PWS can speak well, example, they may not necessarily be able to therefore, they are maintain their own hygiene, or that of their competent in all aspects of environment, without support). The inability to control their lives. impulses or understand potential consequences often endangers their own welfare.
The cognitive impairments experienced by someone with PWS mean that they are usually unable to enact People with PWS the requirements of daily life without supports. They are generally physically need even greater support for community and capable, therefore they economic participation due to a lack of volition and don’t need 24/7 support. self-management capabilities and the risk of impulsive behaviours. They need prompting at minimum and much more proactive and detailed support where their capability declines. It is recognised internationally that people with PWS require a high level of support due to the broad variety of disabling characteristics in one person.
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Myth Fact
This has not been demonstrated. People with PWS Once the capacity of find it extremely difficult to extrapolate from one a person with PWS has situation to another. They have ongoing, genetic been built, the supports impairments in executive function, satiety and can be reduced. regulating anxiety and emotions. The risk of early death from overeating does not ever reduce and supports must always be in place to manage food (and money) security.
Common barriers to social and economic participation People with PWS have the same aspirations as everyone else; to be in a loving relationship, to have friends, to participate in community life and work and to feel included as full citizens. However, like many people with disability, people with PWS encounter multiple barriers to social, economic and civic participation. These barriers include discriminatory attitudes, perceptions and misconceptions as well as environmental and social barriers. Community attitudes
- Lack of community awareness and understanding about the complexities of PWS resulting in stigma and exclusion. Difficulty accessing services in the mainstream community
- Limited community resources and venues to support people with PWS to be included in the community such as sporting clubs and public spaces.
- Reluctance on the part of organisations and facility staff to seek training and explore ways to support people with PWS who want to access mainstream activities and facilities.
- Inadequate access to mental health services where there has been a tendency to attribute difficult behaviour to the intellectual disability, rather than an emerging mental illness. Education
- Reluctance on the part of schools to fund professional development, PWS training and explore ways to support people with PWS so they can access and participate in the full school curriculum. Difficulty accessing and maintaining employment. Housing
- Lack of housing options that provide safe and supported accommodation that meets the specific needs of the person with PWS including substantive support, food security and adequate staffing capabilities. Transport
- Lack of flexible transport arrangements and supports to allow management of unsupervised access to food and challenging behaviours.
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- While people with PWS are able to physically use public transport, it may not be an option all the time, for reasons of safety for the person with PWS and those around them. What is the role of the family in providing support?
Families provide different levels of support to the person with PWS depending on the individual family circumstances. Usually they play an active role in the areas of management of food security, dietary and exercise management, supporting daily living tasks, medical care, money management and advocating on their behalf. This is often beyond the age that you would generally expect a parent or family member to provide support.
Parents of children with PWS consistently report higher levels of stress than families of other complex disabilities and have higher incidence of family relationship problems. This is often due to the 24/7 vigilance required to manage the hyperphagia and other behavioural problems such as aggression.
Even if the person with PWS transitions to supported accommodation the family often chooses to remain involved to advocate for their family member. Where possible, families may choose to also have a role in attending medical and allied health appointments. But due to the extensive list of medical and allied health appointments, parents and family members may find this difficult to manage.
Consideration should be given to a holistic approach when reviewing informal supports to maintain sustainability and to safeguard against disintegration of the family unit. How can I tailor a meeting to suit a person with PWS?
It is important to be aware of the characteristics of PWS before you meet someone with PWS. There is a high risk of underestimating the difficulties experienced by someone with PWS and this can lead to inadequate support and a decline in the participant’s health, safety and wellbeing. People with disability are presumed to have capacity to make decisions that affect their lives. Every effort must be made to enable the leadership and participation of the person with PWS in meetings. It is a good idea to make sure that an appropriate support person is included in the meeting to confirm facts and provide additional information. People with PWS are prone to confabulation and you should attempt to corroborate information with family/carers. It is also important to give family/carers an opportunity to talk about their role in providing informal supports and whether the NDIS can help them to take a break. Consider what will support a successful planning meeting. Prior to any meetings it may be helpful to consider the following:
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Before the meeting: Provide any written material in Easy English or other languages on request prior to the meeting. Provide as much information about the purpose of the meeting in advance so the person with PWS and their support person can prepare their answers thus reducing the stress level at the actual meeting. Allow more time for the meeting, as the person may want to revisit some of the discussion to understand and assimilate the information and alleviate their anxiety. People with PWS frequently have a minimal sense of time. So, realistic planning for a day, week, month, year or the future will be difficult for them to conceive of or act upon, despite the words they say to you. If a change of accommodation is planned, see the Prader-Willi Syndrome Australia Residential guide. The person may have some mobility difficulties (for example, low muscle tone or obesity), tire easily and need ready access to a toilet.
Communication during the meeting: Be aware that the person with PWS may be able to speak to you clearly, with good expressive language. However, they have a relatively poor level of comprehension and typically:
- May lie and exaggerate about themselves and their circumstances (confabulation), putting themselves at risk
- Will unreliably report on their state of health
- Have poor short-term memory and auditory processing difficulties and find it hard to take in lots of information, especially in conversation
- Can think through things slowly, ask questions and understand small amounts of information at a time. Speak in short sentences; allow enough time for the person to think and respond. Avoid jargon, slang or acronyms. Look for body cues that the participant is not telling the truth such as avoiding eye contact more than previously. Address the questions to the person with PWS rather than the support person. The person with PWS may elect to request assistance from their support person. Speak respectfully to the person with PWS in an age appropriate fashion. Rephrase or repeat the question if you or the support person suspect they haven’t understood the question. Be patient, as the person with PWS will need time to process the response.
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People with PWS tend to be literal thinkers. Do not make any comments that may be interpreted literally, or promises that you cannot keep. People with PWS often give answers that attempt to please others. Use a variety of questioning techniques to try to get the participant’s own views. Information supplied by the person with PWS which will be used to make decisions may need to be corroborated by another party. Ensure you apply reasonable and necessary decision making to determine any appropriate funded supports to be included in the participants plan. Helpful links for further information
Prader-Willi Syndrome Association of Australia Guide for NDIA Technical Advisory Team (for staff members who are providing advice during planning or reviewing a plan for a person with PWS) Clinicians and Allied Health Professionals advice Best Practice Guidelines for Residential Care Prader-Willi Syndrome: A Primer for Psychiatrists Prader-Willi Syndrome Association UK Prader-Willi Syndrome Association (USA) International Prader-Willi Syndrome Organisation
Representative bodies consulted when developing this Snapshot In developing this resource, the NDIA consulted with the Disability Advocacy Network Australia who worked with Prader-Willi Syndrome Australia to develop this snapshot.
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