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International Survey on Pain Experience

An international survey on pain experience in people with Prader-Willi, Williams and Fragile X syndromes: an update from Dr Natali Bozhilova

Introduction: Although scientists know more about pain in people with intellectual disabilities (IDs) nowadays, people with IDs rarely receive treatment for pain. One of the reasons may be that people with IDs may show they are experiencing pain differently to people without IDs, which could be confused for a lower sensitivity to pain by caregivers and professionals. This survey aimed to understand the pain experience of people with one of the three genetic syndromes (Prader-Willi (PWS), Williams (WS) or Fragile X (FXS)) from their caregivers’ perspectives.

Method: 753 families or paid staff from all over the world were asked to complete an online survey on pain. 243 of them completed it and confirmed the person under their care had either PWS, WS, or FXS and IDs. Most of the responders (81.5%) were mothers while most of the people with genetic syndromes were adults (70%), diagnosed with PWS (68%), had mild to borderline IDs (90%) and lived at home with their parents (66.7%).

Results for all syndromes: In a three-month timeframe, most people with genetic syndromes (58.4%) experienced at least one physical condition, which also caused mild to moderate pain in most cases. The condition was often chronic (78.2-85.1%) and caused pain daily for some (11.1-20%).

Results for each syndrome.

Areas of pain: PWS - spine and/or back pain. WS and FXS -throat/stomach pain (reflux, constipation) or headache (FXS only).

Pain treatment: PWS - massage or physiotherapy. WS and FXS - gastrointestinal treatment. People with FXS were however less likely to feel better after taking painkillers than people with WS.

Signs of pain: PWS - hiding, downplaying or denying pain and seeking more/less social interaction. WS - talking about the pain and showing physical discomfort. FXS – changes in body posture/movement and facial expressions, using unique ways to describe pain or confusing pain with other feelings.

Reasons for delayed treatment: Caregivers assumed no pain when they did not see typical signs of pain (e.g., crying, complaints). Caregivers also thought that people with PWS and WS took longer to show or recognise pain, while people with FXS showed pain to visible injuries only (e.g., crying over a scraped knee, but not over an ear infection).

Coping with pain: PWS - resting, seeking reassurance/pain relief and a doctor visit. WS - seeking attention (e.g., moaned, cried) and expecting help from others. FXS - using unique ways to describe pain or hiding it. Caregivers tended to seek medical help, use painkillers. hot/cold compression, rest, comforting and distraction.

Limitations: The survey was anonymous, and some participants had missing data on gender and specific age. Very few participants had FXS. Diagnoses and medical information could not also be verified. The survey included the caregivers’ views only.

Recommendations: 1. Professionals should use the caregivers’ perspective to create a treatment plan together. 2. Guidelines on pain experience and treatment should be developed worldwide. 3. Future researchers should organise online or face-to-face groups with both caregivers and people with genetic syndromes to discuss experiences and treatment of pain.

Original article: de Knegt, N. (2022). Pain characteristics in people with Prader-Willi, Williams, and Fragile-X syndromes: an international survey of caregivers’ perspective. Journal of Developmental and Physical Disabilities, 1-28.


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