Summit Meetings

Drawing on the experience of the French National Reference Centre for Prader-Willi syndrome, Professor Maithé Tauber and Dr Gwenaelle Diene will examine the factors most frequently associated with mortality across the lifespan. The presentation will explore common causes of death, warning signs that may be overlooked, and practical strategies to help families and healthcare professionals identify and manage risks earlier. Attendees will gain valuable insights into reducing preventable harm and improving outcomes for people living with PWS.

Presenters
Professor Maithé Tauber is Professor of Pediatrics at the University of Toulouse, Director of the French Reference Centre for Prader-Willi syndrome, and Chair of the Scientific Council of Prader-Willi France. Her research has made a significant contribution to the understanding of PWS, including studies exploring the role of oxytocin in the syndrome.

Dr Gwenaelle Diene is a member of the multidisciplinary team at the French Reference Centre for Prader-Willi syndrome in Toulouse and will join Professor Tauber in presenting findings and clinical insights from the Centre’s work.

Presenter
Roxann Diez Gross, PhD, CCC-SLP, ASHA Fellow, has over 40 years of clinical experience with a focus on the diagnosis and treatment of swallowing disorders (dysphagia). While an Assistant Professor in the Department of Otolaryngology at the University of Pittsburgh, she served as the Director of the Swallowing Disorders Center and principal investigator on several research grants that she had been awarded. Her research in the area of respiratory and swallowing interactions has resulted in multiple peer-reviewed and invited publications, as well as frequent invitations to lecture both nationally and internationally. Her research study that developed a method and apparatus for quantifying pharyngeal residue was granted a US patent (#7,555,329 B2). While at the Children’s Institute of Pittsburgh, Dr. Gross was the Director of Research while she also conducted studies on swallowing function in PWS. Currently, she is a Consultant and Clinical Specialist for Swallowing Diagnostics, Inc.

Individuals with PWS are at increased risk of serious gastrointestinal complications, some of which can become life-threatening if not recognised and treated promptly. This session will explore common gastrointestinal concerns in PWS, including delayed gastric emptying, constipation, bowel obstruction and gastric rupture.

Attendees will learn about the signs and symptoms that may indicate an emerging medical emergency, when urgent medical assessment should be sought, and the practical steps families and healthcare professionals can take to support early recognition and intervention. This presentation will provide important guidance for anyone involved in the care of people with PWS.

Presenter
Dr. Scheimann received her doctorate of medicine at the University of Cincinnati School of Medicine and completed her pediatric residency and pediatric gastroenterology and nutrition fellowship at Baylor College of Medicine/Texas Children’s Hospital. She was full time faculty within the Division of Pediatric Gastroenterology and Nutrition at Baylor College of Medicine until 2000 when she moved to join the full-time faculty within the Department of Pediatrics/Division of Pediatric Gastroenterology at Johns Hopkins School of Medicine but remained adjunct faculty at Baylor College of Medicine directing the Prader-Willi Syndrome Clinic at Texas Children’s Hospital. Dr. Scheimann completed a Masters in Health Sciences Management at Johns Hopkins School of Business in 2005. Dr. Scheimann’s focus of research interest has been in nutrition and obesity with special areas of interest in Prader-Willi Syndrome and nonalcoholic fatty liver disease. She has authored or co-authored to date approximately 90 peer-reviewed publications in addition to book chapters, and meeting presentations.

This presentation introduces research exploring deaths among people with Prader-Willi syndrome from the perspectives of close family members. Drawing on interviews with members of 14 bereaved families, the qualitative study examines the lives of individuals with PWS, their experiences of health and social care, and the circumstances surrounding their deaths.

Gina Skourti will present preliminary findings organised around three interconnected themes: the individual, the family and services. The emerging analysis suggests that potentially preventable harm may occur when individual needs, family knowledge and professional responsibilities become disconnected. Key issues identified by families include the application of mental capacity frameworks, fragmented care, reportedly unsafe environments, poor information sharing, and the exclusion of family expertise. The presentation will consider the implications of these findings for improving care and reducing the risk of avoidable harm in people with PWS.

Presenters

Gina Skourti is a mental health clinician and trained behaviour analyst with experience supporting people with learning disabilities and neurodivergent individuals across the lifespan. She currently works as a clinical lead in a mental health support service for children and young people and teaches on IAPT courses, focusing on autism and learning disabilities. She is also training as a counsellor and psychotherapist. Her particular interests include supporting caregivers and training professionals in neuroaffirming approaches to practice.

Dr Anne Livesey is a recently retired Consultant Developmental and Community Paediatrician with extensive experience in hospital paediatric endocrinology. For 20 years, Dr Livesey worked as part of a multidisciplinary Prader-Willi syndrome clinic at a children’s hospital in Sussex, England, supporting children and young people from across England and Wales. Her role extended beyond clinical care to include many of the wider implications of living with PWS, involving close collaboration with families and a range of health, education and social care services.

Dr Livesey has considerable experience reviewing the circumstances surrounding the deaths of children and young people, as well as the information and support provided to families following bereavement. In 2000, Dr Livesey developed a Sussex-wide multi-agency protocol for responding to unexpected child deaths and served as the Designated Paediatrician responsible for overseeing this work and the subsequent multi-agency reviews of all local child deaths. Both processes later became mandatory practice across England and Wales in 2008.