Mental health professionals have published 10 recommendations for Prader-Willi syndrome (PWS) research. These recommendations create urgency for further research and treatments to improve quality of life and increase independence for people with PWS. The recommendations are included below, from the paper summarizing the Prader-Willi Syndrome Mental Health Research Strategy Workshop Proceedings published recently in the Orphanet Journal of Rare Diseases.
The workshop took place in 2015, when approximately 45 mental health professionals (researchers and clinicians) gathered from around the world to discuss behavior and mental health in PWS. Slightly more than half of the group was experienced PWS clinicians and/or scientists, while the remainder had expertise in other neurodevelopmental disorders and mental health research in areas of significance for PWS.The goal of the meeting was to develop a research strategy to advance the science of mental health issues in PWS. Mental health and behavioral problems remain a major challenge for individuals with the syndrome, with significant impacts on quality of life and independence for both the person with PWS and their families. The workshop integrated previous research on PWS with other relevant areas of study, including a focus on 22q deletion syndrome as an example of another neurodevelopmental syndrome with similar mental health struggles (anxiety and psychosis).
A focus of the meeting was also on two neurobiological systems that research has suggested are relevant to understanding the broader behavioral/mental health issues in PWS: the autonomic nervous system and oxytocin/vasopressin pathways. The meeting highlighted the state of the science in our understanding of the mental health of people with PWS and sought to identify and prioritize key research questions, as well as highlight current opportunities and needs.
The top 10 recommendations from the workshop are described in the paper and are listed below. It is exciting to note that research studies are already underway, focused on several of the key areas listed below, including prodromal symptoms of mental illness/psychosis in PWS and assessment of the autonomic nervous system function in PWS. Several studies are currently in progress examining oxytocin and vasopressin systems in PWS. And over the last year, the Global PWS Registry, which currently has over 1000 participants, has been collecting natural history data on mental health issues in PWS. Lastly, research is ongoing focused on assessment of caregiver stress, which will hopefully lead towards the development of strategies to begin to effectively address high levels of parental/caregiver stress in PWS.
Priorities for PWS Research in Mental Health
- Obtain longitudinal and natural history data on mental health in PWS, including the behavioral and psychiatric components of the PWS phenotype. The Global PWS Registry will be a critical resource to advance mental health research since it will compile data on mental health over the lifespan.
- Develop effective outcome measures for PWS mental health treatment studies, fully utilizing the Global PWS Registry to facilitate the development of such tools.
- Determine the influence of weight management, hormones, and environment on mental well being over the life course, using validated measures of well-being.
- Apply diverse research methods to advance mechanistic research on the neurobiology underlying mental health and behavioral issues in PWS.
- Identify markers (neurobiological, genetic, psychological, environmental) of impending mental illness and characterize features of the prodromal phase (especially psychosis) in PWS, to allow mitigation and/or prevention of psychiatric episodes through environmental, behavioral or pharmacological interventions; and evaluate effectiveness of such interventions.
- Facilitate further research on oxytocin and vasopressin in PWS in order to refine the timing and dosing of future oxytocin trials in PWS.
- Further assess autonomic nervous system function in PWS to determine if the polyvagal theory and treatments help explain or ameliorate temper outbursts, anxiety and other behavioral problems.
- Adapt or modify current state of the art behavioral interventions, including mindfulness, for anxiety, obsessive compulsive behaviors, and temper outbursts for PWS, and test their effectiveness over time.
- Develop accessible methods and approaches to help reduce high levels of parental/caregiver stress, and determine effects of reducing caregiver distress on child functioning.
- Involve parents, families and caregivers (both family and professional) at all levels. Workshop attendees felt that their vast experience and engagement would be critical to advancing knowledge and treatment, with input as well from youth and adults with PWS.
The workshop that produced these recommendations was made possible by the hard work of a planning and organizing committee. I'd like to express heartfelt thanks to fellow committee members Tony Holland, Elisabeth Dykens, Elizabeth Roof, Theresa Strong, Susan Hedstrom, and Tanya Johnson ---- Lauren Schwartz, Mental Health Workshop Organizer.