Search Results
Search for other papers by Christine Poitou in
Google Scholar
PubMed
Search for other papers by Anthony Holland in
Google Scholar
PubMed
Search for other papers by Charlotte Höybye in
Google Scholar
PubMed
Search for other papers by Laura C G de Graaff in
Google Scholar
PubMed
Search for other papers by Sandrine Bottius in
Google Scholar
PubMed
Search for other papers by Berit Otterlei in
Google Scholar
PubMed
Search for other papers by Maithé Tauber in
Google Scholar
PubMed
Prader–Willi syndrome (PWS), the most common form of syndromic obesity, is a complex neurodevelopmental genetic disorder including obesity with hyperphagia, endocrine and metabolic disorders and also psychiatric disorders. The most frequent endocrine disturbances include hypogonadism and growth hormone (GH) deficiency. Hypothyroidism and central adrenal insufficiency can also be observed but are less frequent. The transition of individuals with PWS from adolescence to adult life is challenging because of multiple comorbidities and complex disabilities. Individuals and caregivers face psychological, medical and social issues. This period of profound changes is thus prone to disruptions, and the main risks being the worsening of the medical situation and loss to follow-up of the individuals. Medical care may be poorly adapted to the needs of individuals because of a lack of knowledge concerning the syndrome and also lack of the necessary specific skills. A multidisciplinary panel composed of several experts in PWS met in November 2021 during an European Reference Network on Rare Endocrine Conditions (Endo-ERN) webinar. They presented complementary aspects of PWS from the perspective of the transition including psychiatric, pediatric and adult endocrinological and parent’s and patient’s points of view and shed light on the best way to approach this pivotal period.
Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK
Search for other papers by M Guftar Shaikh in
Google Scholar
PubMed
Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK
Search for other papers by Timothy G Barrett in
Google Scholar
PubMed
Search for other papers by Nicola Bridges in
Google Scholar
PubMed
Search for other papers by Robin Chung in
Google Scholar
PubMed
Centre for Endocrinology, William Harvey Research Institute, Barts and The London Medical School, Queen Mary University of London, London, UK
Search for other papers by Evelien F Gevers in
Google Scholar
PubMed
Department of Endocrinology, Imperial College Healthcare NHS Trust, Hammersmith Hospital, London, UK
Search for other papers by Anthony P Goldstone in
Google Scholar
PubMed
Search for other papers by Anthony Holland in
Google Scholar
PubMed
Search for other papers by Shankar Kanumakala in
Google Scholar
PubMed
Search for other papers by Ruth Krone in
Google Scholar
PubMed
Department of Paediatric Endocrinology, Makarios Children's Hospital, Nicosia, Cyprus
Search for other papers by Andreas Kyriakou in
Google Scholar
PubMed
Sussex Community NHS Trust, Brighton, UK
Search for other papers by E Anne Livesey in
Google Scholar
PubMed
Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK
Search for other papers by Angela K Lucas-Herald in
Google Scholar
PubMed
Search for other papers by Christina Meade in
Google Scholar
PubMed
Search for other papers by Susan Passmore in
Google Scholar
PubMed
The University of Dublin, Trinity College Dublin, Dublin, Republic of Ireland
Search for other papers by Edna Roche in
Google Scholar
PubMed
Search for other papers by Chris Smith in
Google Scholar
PubMed
Search for other papers by Sarita Soni in
Google Scholar
PubMed
Prader–Willi syndrome (PWS) is a rare orphan disease and complex genetic neurodevelopmental disorder, with a birth incidence of approximately 1 in 10,000–30,000. Management of people with PWS requires a multi-disciplinary approach, ideally through a multi-disciplinary team (MDT) clinic with community support. Hypotonia, poor feeding and faltering growth are characteristic features in the neonatal period, followed by hyperphagia and risk of rapid weight gain later in childhood. Children and adolescents (CA) with PWS usually display developmental delay and mild learning disability and can develop endocrinopathies, scoliosis, respiratory difficulties (both central and obstructive sleep apnoea), challenging behaviours, skin picking, and mental health issues, especially into adulthood. This consensus statement is intended to be a reference document for clinicians managing children and adolescents (up to 18 years of age) with PWS. It considers the bio-psycho-social domains of diagnosis, clinical assessment, and management in the paediatric setting as well as during and after transition to adult services. The guidance has been developed from information gathered from peer-reviewed scientific reports and from the expertise of a range of experienced clinicians in the United Kingdom and Ireland involved in the care of patients with PWS.
