‘The cure for us is a lot of things’: How young people with Prader‐Willi syndrome view themselves and future clinical trials

Abstract

Background: Despite work on the self-identities of people with intellectual disabilities, research has yet to describe the self-perceptions of people with Prader-Willi syndrome (PWS). The perspectives of those with PWS are also important for rapidly evolving clinical trials aimed at treating symptoms of PWS.Method: Twenty-one young people with PWS were administered a semi-structured interview that assessed how they perceive their syndrome and clinical trials. Transcribed interviews were reliably coded using content-driven, applied thematic analyses.Results: Five themes emerged: struggles with chronic hunger and food-seeking that impede goals and relationships; struggles with anxiety and outbursts, schedule changes and school; distancing from PWS; needs for clinical trials that cure PWS, reduce hunger or anxiety, and lead to improved outcomes; and needs for advocacy and awareness of PWS.Conclusions: Findings shed new light on the self-perceptions of those with PWS and have important implications for current interventions and future clinical trials.

The Feasibility and Effectiveness of a Novel, On-Line Social Skills Intervention for Individuals With Prader-Willi Syndrome

“…First, we have found that individuals with PWS in our research programs have difficulty completing standardized questionnaires of their internal states (e.g., anxiety, depression), leading to unreliable data. Second, we have successfully used semi-structured interviews to explore the internal self-representations of young people with PWS ( 20 ).…”

“…Despite these limitations, this proof-of-concept, mixed-method study justifies future work aimed at improving the social skills of people with PWS. Although challenged by their hyperphagia and food seeking ( 20 ), study participants learned social engagement, cognition, communication and motivation skills that furthered their friendships and reduced feelings of loneliness. Further studies are needed, yet findings bode well for the dissemination and implementation of the BOSS curriculum in the broader PWS community.…”

Validation of the Food Safe Zone Questionnaire for Families of Individuals with Prader-Willi syndrome

“…Beginning in early childhood, hyperphagia is attributed to aberrant neural feedback mechanisms involved in appetite regulation and satiety [9]. As a result, hyperphagic individuals with PWS view the world through a lens of hunger; they are constantly hungry, yet rarely feel full or sated [10]. Their unrelenting hunger leads to food seeking behaviors, including sneaking food and manipulating others to obtain food.…”

Body weight, behaviours of concern, and social contact in adults and adolescents with Prader-Willi syndrome in full-time care services: Findings from pooled international archival data

“…Such meticulous control of the food environment, such as locked food access and continuous supervision, amounts to the only ‘treatment’ or ‘management’ currently available for hyperphagia [ 9 ]. When describing their own aspirations, people with PWS typically identify control of the food environment as being fundamental to the type of care they wish to receive [ 10 ]. Families attempting to independently meet this considerable care demand typically experience significant levels of stress and greatly diminished quality of life [ 11 – 12 ].…”