Pijn experience en cognition in Williams, Prader-Willi en Fragiele-X syndromes

In people with Williams syndrome (WS), Prader-Willi syndrome (PWS) and Fragile
X syndrome (FXS), there is evidence of painful physical conditions and
indications for another pain perception and sensory sensitivity. Our research
in people with dementia and adults with Down syndrome has shown that the
specific characteristics of brain areas and white matter tracts involved in
pain processing may result in a different perception of pain and that it is
important to assess pain reliably. Additionally, the increased life expectancy
in the population of people with intellectual disabilities has resulted in a
greater risk of painful medical conditions, allowing more clients will be with
pain who might otherwise experience pain and / or pain may indicate less well.
Furthermore, pain is negatively related to physical inactivity: in the general
population there are those without dementia and with evidence that physical
inactivity can result in pain and that pain can lead to physical inactivity.
This is worrisome because it has been found that older people with intellectual
disabilities are very physically inactive. Evidence for physical inactivity has
also been found in adolescents and adults with WS, PWS and FXS. In addition to
physical inactivity has hurt also negatively related to mood, behavior, sleep
pattern, adaptive functioning and quality of life. Caregivers of adults with
intellectual disabilities have observed that pain can lead to For example
anxiety / stress, anxiety, depression, self harm and problem behaviour. This
could be the only expression of pain due to the sometimes difficult
self-report. Possible examples of behavioral problems related to pain his
temper and beat others. The areas of adaptive functioning receding in pain in
children with intellectual disability are communication, social skills, motor
skills and daily activities. Finally, pain associated with poorer cognitive
function, as found in chronic pain patients regarding decisions, attention,
memory, working memory, word fluency and cognitive flexibility. These functions
are essential to daily functioning.

Abnormal pain behavior (such as self-injury), difficulty with self-reporting
pain (resulting in vague descriptions), or a high pain threshold in some
individuals with intellectual disabilities can make it difficult for caregivers
and professionals to notice pain in time. Caregivers of adults with
intellectual disabilities have reported that pain diagnostics and treatment are
complex and unclear. The possibilities of self-reports of pain by people with
intellectual disabilities must be carefully investigated, because the people
themselves deliver the most important information (self-report is the gold
standard for measuring pain) and it stimulates autonomy to ask about their
experience. In subjects who have difficulties communicating pain it is valuable
to examine which self-reporting scale (numbers, faces, or icons) is best
understood. In subjects who can communicate pain it is important to examine the
pain experience, so that this knowledge can be used to notice and treat pain.
At present there is a lack of knowledge about the pain experienced by people
with WS, PWS, and FXS. The purpose of this study is to increase this knowledge
and to be of direct use for the individual.

To obtain more insight into pain experience, it is valuable to examine the
relationship with cognitive function (mental functions such as memory,
attention, and planning). Many brain areas that proces pain also have a
cognitive function and a negative relationship has been found between pain and
cognition. It is therefore relevant to examine whether a worse cognitive
functioning is an indication for pain. It is further relevant to examine in
what extent the self-reported pain correspond to observed pain behaviour and
the presence of potentional painful conditions. When describing potentially
painful conditions, attention should also be paid to dental conditions. The
oral health of people with intellectual disabilities is in general concerning,
such as a higher prevalence and greater severity of periodontal disease.
Possible causes include communication problems, no cooperation, and motor or
cognitive limitations. Poor oral health can lead to pain. Acute pain from an
abscess in the mouth can result in people with intellectual and communicative
limitations in aggressive behaviour. Poor oral health also results in a risk of
diseases such as pneumonia.

The rationale is to provide practical tools for pain assessment (for both the
professional and parents) and to understand the pain experience in people with
WS, PWS, and FXS for developing/adapting pain management.

The research questions are:
1) What are the characteristics of pain (presence, perception, behaviour,
sensory sensitivity) in WS, PWS, and FXS, compared with two control groups from
the general population without diagnoses of genetic abnormalities (matched for
chronological and mental age)?
2) Is there a relationship between pain perception and cognitive function in
people with this syndrome?

Observational study (case-control). The research provides the most complete and
careful approach as possible by combining information from self-report (at rest
and after exercise), report of caregivers, files form physician and dentist,
observation of pain behaviour (by researcher and caregivers), and sensory and
cognitive test results.
(See Chapter 8 of the study).

Risks are absent (no painful stimuli will be administered) and the burden is
reduced by preventing exhaustion (taking breaks and using several testing
sessions, if necessary). A previous study of pain experience and cognition in
adults with Down syndrome and the pilot study of the current project shows that
a test session of three hours is not too strenuous. During the test session,
close attention will be paid to fatigue and resistance of participants and
participants will be encouraged.