title: Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence.
abstract: OBJECTIVE
  We developed clinical guidelines for the management of bone health in Rett syndrome through evidence review and the consensus of an expert panel of clinicians.
  
  
  METHODS
  An initial guidelines draft was created which included statements based upon literature review and 11 open-ended questions where literature was lacking. The international expert panel reviewed the draft online using a 2-stage Delphi process to reach consensus agreement. Items describe the clinical assessment of bone health, bone mineral density assessment and technique, and pharmacological and non-pharmacological interventions.
  
  
  RESULTS
  Agreement was reached on 39 statements which were formulated from 41 statements and 11 questions. When assessing bone health in Rett syndrome a comprehensive assessment of fracture history, mutation type, prescribed medication, pubertal development, mobility level, dietary intake and biochemical bone markers is recommended. A baseline densitometry assessment should be performed with accommodations made for size, with the frequency of surveillance determined according to individual risk. Lateral spine x-rays are also suggested. Increasing physical activity and initiating calcium and vitamin D supplementation when low are the first approaches to optimizing bone health in Rett syndrome. If individuals with Rett syndrome meet the ISCD criterion for osteoporosis in children, the use of bisphosphonates is recommended.
  
  
  CONCLUSIONS
  A clinically significant history of fracture in combination with low bone densitometry findings is necessary for a diagnosis of osteoporosis. These evidence and consensus-based guidelines have the potential to improve bone health in those with Rett syndrome, reduce the frequency of fractures, and stimulate further research that aims to ameliorate the impacts of this serious comorbidity.
authors: School of Biomedical Sciences, Curtin Health Innovation Research Institute-Biosciences, Curtin University, Perth, Western Australia, Australia.
authors: Amanda
authors: A
authors: Jefferson
authors: Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia, Australia.
authors: Helen
authors: H
authors: Leonard
authors: Department of Endocrinology and Diabetes, Princess Margaret Children's Hospital, West Perth, Western Australia, Australia.
authors: Aris
authors: A
authors: Siafarikas
authors: Department of Paediatric Endocrinology, Sydney Children's Hospital, Randwick, New South Wales, Australia.
authors: Helen
authors: H
authors: Woodhead
authors: Faculty of Health Sciences, Curtin University, Perth, Western Australia, Australia.
authors: Sue
authors: S
authors: Fyfe
authors: Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, Canada.|Division of Endocrinology and Metabolism, Children's Hospital of Eastern Ontario, Ottawa, Canada.
authors: Leanne M
authors: LM
authors: Ward
authors: Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
authors: Craig
authors: C
authors: Munns
authors: Department of Pediatrics, USDA/ARS Children's Nutrition Research Center, Baylor College of Medicine, Houston, Texas, United States of America.|Section of Gastroenterology, Hepatology and Nutrition, Texas Children's Hospital, Houston, Texas, United States of America.
authors: Kathleen
authors: K
authors: Motil
authors: Children's Healthcare of Atlanta, Emory University, Atlanta, Georgia, United States of America.
authors: Daniel
authors: D
authors: Tarquinio
authors: Bone and Osteogenesis Imperfecta Department, Kennedy Krieger Institute, Baltimore, Maryland, United States of America.
authors: Jay R
authors: JR
authors: Shapiro
authors: Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Solna, Stockholm, Sweden.
authors: Torkel
authors: T
authors: Brismar
authors: Pediatric Neurology Unit, Edmond & Lily Safra Children's Hospital, Chaim Sheba Medical Center, Tel Hashomer, Israel.
authors: Bruria
authors: B
authors: Ben-Zeev
authors: Center for Rett Syndrome, Copenhagen, Denmark.|Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.
authors: Anne-Marie
authors: AM
authors: Bisgaard
authors: Clinic of Child and Adolescent Neuropsychiatry, Department of Medicine and Surgery, University of Salerno, Salerno, Italy.
authors: Giangennaro
authors: G
authors: Coppola
authors: Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.|Disciplines of Paediatrics and Child Health and Genetic Medicine, University of Sydney, Sydney, New South Wales, Australia.
authors: Carolyn
authors: C
authors: Ellaway
authors: Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
authors: Michael
authors: M
authors: Freilinger
authors: Civitan International Research Centre, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
authors: Suzanne
authors: S
authors: Geerts
authors: Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
authors: Peter
authors: P
authors: Humphreys
authors: Katie's Clinic for Rett Syndrome and Related Disorders, UCSF Benioff Children's Hospital, Oakland, California, United States of America.
authors: Mary
authors: M
authors: Jones
authors: Civitan International Research Centre, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
authors: Jane
authors: J
authors: Lane
authors: Swedish National Rett Centre, Frösön, Sweden.|Department of Community Medicine and Rehabilitation, Physiotherapy, Umeå University, Frösön, Sweden.
authors: Gunilla
authors: G
authors: Larsson
authors: Department of Physiotherapy, Ariel University, Ariel, Israel.
authors: Meir
authors: M
authors: Lotan
authors: Department of Pediatrics and Neurology, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
authors: Alan
authors: A
authors: Percy
authors: Fundació Hospital Sant Joan de Déu, Barcelona, Spain.|Centre for Biomedical Research on Rare Diseases, Instituto de Salud Carlos III, Barcelona, Spain.
authors: Mercedes
authors: M
authors: Pineda
authors: Greenwood Genetic Center, Greenwood, South Carolina, United States of America.
authors: Steven
authors: S
authors: Skinner
authors: Center for Rett Syndrome, Copenhagen, Denmark.|Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.
authors: Birgit
authors: B
authors: Syhler
authors: Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
authors: Sue
authors: S
authors: Thompson
authors: Division of Pediatric Gastroenterology and Nutrition, Edmond & Lily Safra Children's Hospital, Tel Hashomer, Israel.|Chaim Sheba Medical Center, Tel Hashomer, Israel.
authors: Batia
authors: B
authors: Weiss
authors: Neuropediatrics, Swedish National Rett Center, Frösön, Sweden.
authors: Ingegerd
authors: I
authors: Witt Engerström
authors: Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia, Australia.|School of Physiotherapy and Exercise Science, Curtin University, Perth, Western Australia, Australia.
authors: Jenny
authors: J
authors: Downs
mesh_terms: D015502:Absorptiometry, Photon; D015519:Bone Density; D050071:Bone Density Conservation Agents / Q000627:therapeutic use; D032921:Consensus; D004164:Diphosphonates / Q000627:therapeutic use; D019468:Disease Management; D006801:Humans; D010024:Osteoporosis / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy*; D017410:Practice Guidelines as Topic; D015518:Rett Syndrome / Q000150:complications*
chemical_list: D050071:Bone Density Conservation Agents; D004164:Diphosphonates