Evaluation of the Psychological Profile of Adult Patients With Prader-Willi Syndrome

The observational study will be carried out at the U.O. of Auxology, Istituto Auxologico Italiano, IRCCS, Piancavallo.

36 subjects with a genetic diagnosis of PWS, of both sexes and aged between 18 and 55, and their caregivers will be taken into consideration.

In subjects affected by PWS, the following variables will be investigated:

• anthropometric parameters (height, weight, BMI, waist circumference);

• socio-demographic conditions (gender, age, origin, level of education, family composition)

• concomitant hormonal and psychiatric therapies

• intellectual profile through the Mini-Mental State Examination (MMSE), a neuropsychological test consisting of 30 items that refer to the following cognitive areas: orientation in time, orientation in space, word recording, attention and calculation, recall, language, constructional praxis.

• psychological well-being through the Psychological General Well-Being Index (PGWBI), a questionnaire made up of 22 items that measure the following dimensions: anxiety, depression, positivity and well-being, self-control, general state of health, and vitality.

• perception of life quality through the 36-Item Short Form Survey (SF-36), a questionnaire composed of 36 items that investigates the perception of quality of life in relation to: physical functioning, limitations due to physical health, limitations due to emotions, energy and fatigue, emotional well-being, social activities, pain, general health perception

• mental distress through the Symptom Checklist-90-R (SCL-90-R), a questionnaire made up of 90 items capable of investigating the presence and severity of symptoms of mental distress related to nine psychopathological dimensions: somatization, obsession-compulsion, interpersonal sensitivity, depression, anxiety, anger-hostility, phobic anxiety, paranoid ideation, psychoticism.

The following variables will be investigated in the parents or caregivers of subjects with PWS:

• psychological distress through the Depression, Anxiety, and Stress Scale (DASS-21), a questionnaire composed of 21 items aimed at investigating experiences of anxiety, depression, and stress

• psychological well-being through the Psychological General Well-Being Index (PGWBI), a questionnaire made up of 22 items that measure the following dimensions: anxiety, depression, positivity and well-being, self-control, general state of health, and vitality.

• coping strategies through Coping Orientation to Problem Experienced (COPE-new Italian version). It is a questionnaire made up of 60 items aimed at investigating how often the subject implements - in difficult or stressful situations - different coping strategies to deal with stressful daily situations.

• hyperphagia of subjects with PWS through the Hyperphagia Questionnaire (HQ), a questionnaire to be administered to parents or caregivers of reference consisting of 11 items capable of investigating the hyperphagia of subjects affected by PWS.