Professional Resources
Physician Resources
Resource sections for geneticists, endocrinologists etc (overviews), anaesthetists, gastroenterologists, GPs, orthopaedic surgeons and pulmonologists.
OVERVIEWS (clinical, genetic, endocrine) AND MANAGEMENT RECOMMENDATIONS
- Recommendations for the Diagnosis and Management of Prader-Willi Syndrome – A. P. Goldstone, A. J. Holland, B. P. Hauffa, A. C. Hokken-Koelega, and M. Tauber, on behalf of speakers and contributors at the Second Expert Meeting of the Comprehensive Care of Patients with PWS, 2008.
- Clinical Report—Health Supervision for Children with Prader-Willi Syndrome – Shawn E. McCandless, MD, and THE COMMITTEE ON GENETICS, American Academy of Pediatrics, 2010.
- A short clinical overview of Prader–Willi syndrome – C. J. McAllister and J. E. Whittington, 2011.
- Approach to the Child with Prader-Willi Syndrome – Jennifer L. Miller, 2012.
- CONSENSUS GUIDELINE DOCUMENTS: Medical Care: Evaluation and Overview for 0-3yrs, 3-12yrs, adolescents, adults – Approved by IPWSO Clinical and Scientific Advisory Board, 2019.
- Prader-Willi Syndrome: review – Suzanne B. Cassidy et al, 2012.
- Prader-Willi Syndrome: review – Driscoll DJ, Miller JL, Schwartz S, Cassidy SB and editors, updated review 2016.
- Endocrine Manifestations and Management of Prader-Willi syndrome – Jill E Emerick and Karen S Vogt, 2013.
- Prader‑Willi syndrome: a review of clinical, genetic, and endocrine findings – Angulo MA et al, 2015.
- Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches – Merlin G. Butler, Ann M. Manzardo and Janice L. Forster, 2016.
- Review of Prader-Willi syndrome: the endocrine approach – Heksch R, Kamboj M, Anglin K, Obrynba K, 2017
- Effects of 8 years of growth hormone treatment on scoliosis in children with Prader–Willi syndrome – Grootjen LN, Rutges JPHJ, Damen L, Donze SH, Juriaans AF, Kerkhof GF, Hokken-Koelega ACS, 2021.
- Randomized Controlled Trial to Investigate the Effects of Growth Hormone Treatment on Scoliosis in Children with Prader-Willi Syndrome – de Lind van Wijngaarden RF et al, Dutch Growth Research Foundation, 2009.
- Prader–Willi syndrome: clinical problems in transition from pediatric to adult care – Crinò et al, 2016.
- LETTER TO THE EDITOR: Time for a general approval of growth hormone treatment in adults with Prader–Willi syndrome – C. Höybye, A. Holland and D. Driscoll, on behalf of the Clinical and Scientific Advisory Board of IPWSO, 2021
- VIDEO: Hypogonadism in PWS – Assoc Prof T Markovic presenting at the 3rd Asia-Pacific PWS Conference, 2015
General Practice
- INFORMATION & GUIDELINES: Prader-Willi syndrome: Care of Adults in General Practice – Elly Scheermeyer PhD, 2013.
- OVERVIEW: PWS – Information for GPs – by PWSA(UK)
- CONSENSUS FACTSHEET (one page): Important Medical Facts about PWS – approved by IPWSO Clinical & Scientific Advisory Board, revised Aug 2022.
- CONSENSUS GUIDELINES: Medical Care for Doctors (by age group: 0-3yrs, 3-12yrs, adolescents, adults) – IPWSO Clinical & Scientific Advisory Board 2019
- WEB PAGE: General Health in PWS – by IPWSO
- INFORMATION POSTER: PWS Safety Poster: Information on people with Prader-Willi syndrome (PWS) for Health Care Professionals – Gretton Homes
A-Z:
Anaesthesia
- REPORT: Special Anesthesia Concerns for Patients with Prader-Willi Syndrome: The Winthrop University Hospital Center Experience, 2008.
- GUIDELINES: Anaesthesia and Prader-Willi Syndrome – James Loker, MD, Laurence Rosenfield, MD.
- REPORT & REVIEW: Anesthesia and Prader–Willi syndrome: preliminary experience with regional anesthesia – Ryan Legrand and Joseph D. Tobias, 2006.
Central Adrenal Insufficiency
- Evaluation of adrenal function using the human corticotrophin-releasing hormone test, low dose Synacthen test and 9am cortisol level in children and adolescents with central adrenal insufficiency, 2008. (“The LDST should be interpreted cautiously because mild CAI may be missed. When stimulation results are marginal, 24-h cortisol profiles can provide reassurance of normal cortisol status.”)
- High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome, 2008.
- REBUTTAL: Adrenal function and mortality in children and adolescents with Prader-Willi syndrome attending a single centre from 1991-2009. 2010
- Normal Cortisol Response on Low-Dose Synacthen (1 g) Test in Children with Prader Willi Syndrome, 2010.
- Normal Cortisol Response to High-Dose Synacthen and Insulin Tolerance Test in Children and Adults with Prader-Willi Syndrome, 2011.
- Assessment of central adrenal insufficiency in children and adolescents with Prader-Willi syndrome, 2012. (“In patients with deletion, the cortisol peak was significantly lower than that in UPD cases….Standard-dose (250 μg) tetracosactrin test confirmed CAI in 4.8% of the cohort – 84 patients.”)
- Central adrenal insufficiency in young adults with Prader-Willi syndrome, 2013. (Prevalence 7.5%)
- An assessment of the hypothalamic-pituitary-adrenal axis in children with prader-willi syndrome (PWS), 2015. (“Lower cortisol levels in those with GH deficiency may reflect a more generalised hypothalamic dysfunction.”)
- REVIEW: Pituitary-Adrenal Axis in Prader Willi Syndrome, 2016. (“Clinicians should have a low threshold for testing the adrenal axis and considering treatment.”)
Gastroenterology
- GUIDELINES: Life-Saving GI Evaluation Algorithm Chart
- REPORT: Acute Idiopathic Gastric Dilatation With Gastric Necrosis in Individuals With Prader-Willi Syndrome – Robert H. Wharton et al 1997.
- REVIEW: Gastric Rupture and Necrosis in Prader-Willi Syndrome – Stevenson, D. A., Heinemann, J., Angulo, M., Butler, M. G., Loker, J., Rupe, N., ..… Scheimann, A., 2007.
- REPORT: Gastric Dilatation and Abdominal Compartment Syndrome in a Child with Prader-Willi Syndrome, 2017.
- GUIDELINES: Recognising Gastric Dilatation and Associated Risks in Prader-Willi Syndrome (PWS) – Linda M. Gourash, MD and Janice L. Forster, MD.
- SUMMARY: A Comprehensive Overview of GI Issues in Prader-Willi Syndrome – Ann Scheimann, M.D., M.B.A., expert on PWS and GI issues, 2010
- Delayed Gastric Emptying in patients with Prader Willi Syndrome, 2010.
- A descriptive study of Colorectal Function in adults with Prader-Willi syndrome: High Prevalence of Constipation, 2014.
- SUMMARY: Pilot Study Examining Swallowing Function in Persons with Prader-Willi Syndrome Roxann Diez Gross, PhD,CCC/SLP & Greg Cherpes, MD — The Children’s Institute, Pittsburgh PA, 2014
- Subclinical Dysphagia in persons with Prader–Willi syndrome, 2016.
- REVIEW: Rethinking our approach to diet and nutrition for the person with Prader-Willi syndrome – Barb Dorn R.N., B.S.N., Kate Beaver M.S.W. and Margaret Burns R.D., 2016.
- Silent aspiration in infants with Prader–Willi syndrome identified by videofluoroscopic swallow study, 2017.
- VIDEO: GI Issues in PWS – Dr Anne Scheimann presenting at FPWR conference, 2017
Mortality
- REPORT: Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey – Butler et al, 2017.
Orthopaedics
- Prader-Willi Syndrome: clinical concerns for the orthopaedic surgeon, 2006.
- The Musculoskeletal Manifestations of Prader-Willi syndrome – a study of 36 patients, 2010.
- Epidemiological aspects of scoliosis in a cohort of Japanese patients with Prader-Willi syndrome, 2009.
- GUIDELINES: Guidelines on Scoliosis Monitoring and Treatment for Children with Prader-Willi Syndrome – Harold J. P. van Bosse, MD, 2010
- INFORMATION: A Primer on Scoliosis Surgery for Prader-Willi Syndrome – Harold J. P. van Bosse, MD
- REVIEW: Clinical Observations and Treatment Approaches for Scoliosis in Prader–Willi Syndrome – Harold J. P. van Bosse and Merlin G. Butler, 2020.
- High Prevalence of Scoliosis in a Large Cohort of Patients with Prader-Willi Syndrome – Crinò A, Armando M, Crostelli M, Mazza O, Bruzzese D, Convertino A, Fintini D, Bocchini S, Ciccone S, Sartorio A, Grugni G., March 2022.
- Effects of 8 years of growth hormone treatment on scoliosis in children with Prader–Willi syndrome – Grootjen LN, Rutges JPHJ, Damen L, Donze SH, Juriaans AF, Kerkhof GF, Hokken-Koelega ACS, 2021.
- Randomized Controlled Trial to Investigate the Effects of Growth Hormone Treatment on Scoliosis in Children with Prader-Willi Syndrome – de Lind van Wijngaarden RF et al, Dutch Growth Research Foundation, 2009.
- The Prevalence and Treatment of Hip Dysplasia in Prader-Willi Syndrome (PWS), 2018
- GUIDELINES: Osteoporosis Evaluation and Therapy in Prader-Willi Syndrome – Consensus Statement of the PWSA (USA) Clinical Advisory Board, 2008
Pulmonary / Respiratory Medicine
- REVIEW: Sleep and breathing in Prader-Willi syndrome, 2002.
- ARTICLE: Respiratory Problems in Prader-Willi Syndrome– James Loker, M.D. for PWSA(USA), 2006.
- GUIDELINES: Recommendations for Evaluation of Breathing Abnormalities Associated with Sleep in PWS – Consensus Statement of PWSA(USA) Clinical Advisory Board, 2007
- Assessment of sleep and breathing in adults with prader-willi syndrome: a case control series, 2007.
- REVIEW: Prader-Willi Syndrome and Sleep Disordered Breathing – Jennifer Miller and Mary Wagner, 2013
- ARTICLE: Sleep Problems in Prader-Willi Syndrome – Dr J Forster for PWSA(USA), 2014
- REVIEW: Prader-Willi syndrome and obstructive sleep apnea: co-occurrence in the pediatric population, 2014.
- Clinically important age-related differences in sleep related disordered breathing in infants and children with Prader-Willi Syndrome, 2014.
- Sleep disordered breathing in patients with Prader-Willi syndrome: A multicenter study, 2015.
- REVIEW: Disorders of Sleep and Ventilatory Control in Prader-Willi Syndrome, 2016.
- Longitudinal evaluation of sleep disordered breathing in infants with Prader-Willi syndrome, 2017.
- Hypoxic and hypercapnic ventilatory responses in Prader-Willi syndrome, 1994.
- Absent peripheral chemosensitivity in Prader-Willi syndrome, 1994.
- Pulmonary function abnormalities in Prader-Willi syndrome, 1995.
- GUIDELINES: Management and Rehabilitation of Obesity Hypoventilation and Right Heart Failure in Prader-Willi Syndrome – Linda M. Gourash MD and James E. Hanchett MD, 2010
- Short-term effects of growth hormone on sleep abnormalities in Prader-Willi syndrome, J Miller et al, 2006.
- Outcomes of adenotonsillectomy in patients with Prader-Willi syndrome, 2012.
- Velopharyngeal dysfunction in children with Prader-Willi syndrome after adenotonsillectomy, 2014
- Effectiveness of Adenotonsillectomy and Risk of Velopharyngeal Insufficiency in Children With Prader-Willi Syndrome, 2017
Therapist Resources
- INFORMATION PAMPHLET: Core Therapeutic Interventions for the Child with Prader-Willi Syndrome – Prader-Willi California Foundation
Physiotherapy
- INFORMATION & GUIDELINES: The Young Child with Prader‐Willi Syndrome: Physical and Sensory Issues and Recommendations – Janice M. Agarwal, PT, CNDT, 2014
- ACTIVITY HANDOUT: The Young Child with Prader-Willi Syndrome: a seminar handout – Janice M. Agarwal, CNDT, PT, Nov 2009.
- VIDEO: Therapeutic Interventions for the Young Child with PWS – Janice Agarwal
- VIDEO: Sensory Motor Issues in PWS – Dr J Forster, Pittsburgh Partnership, presenting at the 3rd Asia Pacific PWS Conference, 2015
- VIDEO: Sensory Solutions for Everyday Struggles – FPWR Conference, 2019
- VIDEO: Family Care and Physical Therapy for People with PWS – Georgina Loughnan presenting at the 2014 PWSAI conference.
- BOOK: Exercise and Physical Activity for children with Prader Willi Syndrome: A Guide for Parents and Carers – Kirsty Reid and Peter SW Davies, Children’s Nutrition Research Centre, University of Queensland
Speech and Language Therapy
- ARTICLE: Speech and Language Disorders Associated with Prader-Willi Syndrome – Barbara A. Lewis
- Speech and Language Skills of Individuals With Prader-Willi Syndrome – Barbara A. Lewis, PhD, et al, 2002
- Expressive and receptive language in Prader-Willi syndrome: report on genetic subtype differences, 2013.
- Speech and Language Issues in Children with Prader-Willi Syndrome – Jennifer L. Miller, Sara S. Plager, 2014
- VIDEO: Improving Clarity of Speech (PROMPT therapy) – Kolby Kail, FPWR Conference 2018
- Subclinical Dysphagia in Persons With Prader–Willi Syndrome, 2016.
- Silent aspiration in infants with Prader–Willi syndrome identified by videofluoroscopic swallow study, 2017.
- Velopharyngeal dysfunction in children with Prader-Willi syndrome after adenotonsillectomy, 2014.
- Effectiveness of Adenotonsillectomy and Risk of Velopharyngeal Insufficiency in Children With Prader-Willi Syndrome, 2017.
Dietitian Resources
- GUIDELINES: Beyond The Diet – For the Dietitian – by Janalee Heinemann, from The Gathered View (ISSN 1077-9965), PWSA(USA), 2005
- HANDOUT: Managing Diet and the Food Environment – PWSA(NZ), May 2019
- HANDOUT: Food Security Checklists – The Pittsburgh Partnership
- HANDOUT: Kitchen Locking Systems – PWSA(NZ)
- Nutritional Phases in Prader–Willi Syndrome – Miller J.L., Lynn C.H., Driscoll D.C., Goldstone A.P., et al , 2011.
- A reduced-energy intake, well-balanced diet improves weight control in children with Prader-Willi syndrome – J. L. Miller, C. H. Lynn, J. Shuster, & D. J. Driscoll, 2012.
- GUIDELINES: New Concepts in Nutrition: PWS Nutrition Revised – Linda M. Gourash, MD, Pittsburgh Partnership, 2017
- VIDEO CLIPS: The Mediterranean Diet and an Overview of Low Carb Diets for PWS – from Melanie Silverman, MS, RD, IBCLC, presentation at the FPWR Conference 2018. Full video available here.
- SLIDES: Optimal Nutrition in Prader-Willi Syndrome – by Melanie Silverman MS, RD, IBCLC.
- VIDEO: Nutrition Tips for PWS – by Hannah Stahmer, MS, RDN, LD, presenting at The Mac Pact PWS Conference, 2017
- INFORMATION: Meals and Snack Ideas for PWS – by Melanie Silverman MS, RD, IBCLC.
- REVIEW & INFORMATION: Overview of Diets explored in the TREND Community PWS Diet Initiative (also includes ‘The White Paper’ review, 2016 and diet resource sheets by TREND and The Charlie Foundation.)
- GUIDELINES: Rethinking our Approach to Diet and Nutrition for the Person with Prader-Willi Syndrome – by Barb Dorn R.N., B.S.N., Kate Beaver M.S.W. and Margaret Burns R.D., 2016. (Dietary approach for GI, choking and swallowing concerns.)
- GUIDELINES: Prader-Willi Syndrome: The Behavioral Challenge – A Brief Summary for Professionals (incl FOOD SECURITY) – Drs Gourash and Forster, Pittsburgh Partnership, 2016
- GUIDELINES: What’s Wrong with Food Rewards in PWS? – Drs Gourash and Forster, Pittsburgh Partnership, 2015
- fMRI Studies of Food Motivation in Prader-Willi Syndrome
Psychologist and Behaviour Support Specialist Resources
- CONSENSUS GUIDELINES: Behavioural features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium, 2021.
- GUIDELINES: The PWS Personality: What is within normal limits? – Linda Gourash, MD, Janice Forster, MD, The Pittsburgh Partnership
- INFORMATION: Mental Health and Behaviour Changes: when should parents seek help? – Drs J. Forster and L. Gourash (Pittsburgh Partnership) and Kathy Clark R.N., M.S.N. (Medical Coodinator PWSA USA), 2018
- ARTICLE: Neurobehavioral Phenotype in Prader–Willi Syndrome – Joyce Whittington and Anthony Holland, 2010.
- Behavioral Phenotype in Adults with Prader–Willi Syndrome – Sinnema M. et al, 2011.
- GUIDELINES: The Noncompliant, Oppositional and Hyper-RE-active Child – Drs Gourash and Forster, The Pittsburgh Partnership, 2015
- REPORT: Attention and Behaviour in Children with Prader-Willi Syndrome – Kate Woodcock, Chris Oliver, Glyn Humphreys: University of Birmingham
- Increased exposure to rigid routines can lead to increased challenging behavior following changes to those routines – Bull, Oliver, Callaghan and Woodcock, Cerebra Centre for Neurodevelopmental Disorders, University of Birmingham, 2014
- GAME: TASTER Project – Video game to help improve task switching by Kate Woodcock, Queens University Belfast
- GUIDELINES: Prader-Willi Syndrome: The Behavioral Challenge – A Brief Summary for Professionals (incl. FOOD SECURITY) – Drs Gourash and Forster, The Pittsburgh Partnership, 2016
- VIDEO: Food Security The TRAIN Model Dr J Forster, 3rd Asia-Pacific PWS Conference, 2015
- HANDOUT: Food Security Checklists – The Pittsburgh Partnership
- VIDEO: Unique Behavioural Features of Prader-Willi Syndrome Elizabeth Roof, by PWS Australia, 2017
- VIDEO: Anxiety – Elizabeth Roof, FPWR Canada Conference 2013
- VIDEO: Part 2: OCD, Anxiety and Strategies for Success – Elizabeth Roof, FPWR Canada Conference 2013
- INFORMATION SHEET: How Does a Person With PWS Think? PWSA(USA) from The Gathered View (ISSN 1077-9965), 2014
- INFORMATION SHEET: Principles of PWS Behaviour Management – K Beaver, L Graziano, PWSA(USA) 2012
- INFORMATION SHEET: PWS Behaviour Management Strategies Tool Kit – Prader-Willi California Foundation
- INFORMATION SHEETS: FamCare Resources by IPWSO, i.e. Managing a Meltdown in People with PWS, Coping with Change etc.
- VIDEO: Behaviour and Mental Health in Prader-Willi Syndrome – PWSAI and IPWSO video for families featuring Professor Tony Holland, University of Cambridge, 2014
- Diagnoses and Characteristics of Autism Spectrum Disorders in Children with Prader-Willi Syndrome – Elisabeth M. Dykens, Elizabeth Roof et al, 2017.
- Social Responsiveness and Psychosocial Functioning in Adults with Prader–Willi Syndrome – Fernández-Lafitte M, Cobo J, Coronas R, Parra I, Oliva JC, Àlvarez A, Esteba-Castillo S, Giménez-Palop O, Palao DJ, Caixàs A., March 2022.
- VIDEO: Improving Social Skills in PWS – Elizabeth Roof, Vanderbilt Kennedy Center, 2017. (Read a summary here.)
- EDUCATION RESOURCE: IEP Accommodations: Sample Templates for the Student with Prader-Willi Syndrome – Social Skill Deficits – Barbara Dorn, PWSA(USA) 2014
- VIDEO: Sensory Integration in PWS – Dr J Forster, 3rd Asia Pacific PWS Conference, 2015
- INFORMATION SHEET: Grief and PWS: possible reactions and how to provide support – by Janalee Heinemann, Director of Research and Medical Affairs
PWSA(USA). Reprinted with permission from PWSA(USA). - CONFERENCE PRESENTATION: Practice tools and techniques used to have conversations in behaviour support and education sessions with a person with PWS and when there is a requirement to discuss difficult subject matter – Christina Ford, Behaviour Specialist at Community Connections (NZ), IPWSO Conference 2019
Psychiatrist Resources
- OVERVIEW & GUIDELINES: Prader-Willi Syndrome: A Primer for Psychiatrists – The Pittsburgh Partnership: Linda Gourash, MD, Janice Forster, MD, 2005.
- GUIDELINES: The PWS Personality: What is within normal limits? – The Pittsburgh Partnership, Linda Gourash, MD, Janice Forster, MD.
- ARTICLE: Neurobehavioral Phenotype in Prader–Willi Syndrome – Joyce Whittington and Anthony Holland, 2010.
- Mental Health Problems in Children with Prader-Willi Syndrome – Skokauskas N., Gallagher L. et al, 2012
- REVIEW: Cognitive and Behavioural aspects of Prader–Willi Syndrome – Lauren J. Rice and Stewart L. Einfeld, 2015
- REPORT: Prader-Willi Syndrome Mental Health Research Strategy Workshop Proceedings: the state of the science and future directions – Schwartz L, Holland A, Dykens E, Strong T, Roof E and Bohonowych J., 2016
- INFORMATION: The Mental Health of People with Prader-Willi Syndrome with specific focus on Mood Disorders and Psychotic Illness – Prof Tony Holland, University of Cambridge, 2017
- GUIDELINES: PWS Information for Psychiatrists – Drs Forster and Gourash, The Pittsburgh Partnership, 2018
- INFORMATION: Psychotropic Medication Tip Sheet for Patients with Prader-Willi Syndrome for Health Care Providers: Elisabeth M. Dykens and Elizabeth Roof, Vanderbilt University, 2010
- REVIEW: Psychotropic treatments in Prader-Willi syndrome: a critical review of published literature – Bonnot O., Cohen D. et al, 2015.
- Pharmacodynamic Gene Testing in Prader-Willi Syndrome – Janice Forster, Jessica Duis and Merlin G. Butler, 2020.
- VIDEO: When and Why to Consider Psych Medications in PWS – Elizabeth Roof
- An open-label pilot study of N-acetylcysteine for skin-picking in Prader-Willi syndrome – Miller JL and Angulo M, 2013
- Neural Correlates of Self-Injurious Behavior in Prader–Willi Syndrome – “Human Brain Mapping” Klabunde et al, Stanford University, 2015
- GUIDELINES: Skin Picking and Prader-Willi Syndrome – by The Pittsburgh Partnership, Linda Gourash, MD, Janice Forster, MD. (Also see info on N-acetylcysteine for PWS.)
- VIDEO: Behaviour and Mental Health in Prader-Willi Syndrome – PWSAI and IPWSO video for families featuring Professor Tony Holland, University of Cambridge, 2014
- VIDEO: Part 2: OCD, Anxiety and Strategies for Success – Elizabeth Roof, FPWR Canada Conference 2013