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PLoS One. 2016 Feb 5;11(2):e0146824. doi: 10.1371/journal.pone.0146824. eCollection 2016.

Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence.

Author information

1
School of Biomedical Sciences, Curtin Health Innovation Research Institute-Biosciences, Curtin University, Perth, Western Australia, Australia.
2
Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia, Australia.
3
Department of Endocrinology and Diabetes, Princess Margaret Children's Hospital, West Perth, Western Australia, Australia.
4
Department of Paediatric Endocrinology, Sydney Children's Hospital, Randwick, New South Wales, Australia.
5
Faculty of Health Sciences, Curtin University, Perth, Western Australia, Australia.
6
Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, Canada.
7
Division of Endocrinology and Metabolism, Children's Hospital of Eastern Ontario, Ottawa, Canada.
8
Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
9
Department of Pediatrics, USDA/ARS Children's Nutrition Research Center, Baylor College of Medicine, Houston, Texas, United States of America.
10
Section of Gastroenterology, Hepatology and Nutrition, Texas Children's Hospital, Houston, Texas, United States of America.
11
Children's Healthcare of Atlanta, Emory University, Atlanta, Georgia, United States of America.
12
Bone and Osteogenesis Imperfecta Department, Kennedy Krieger Institute, Baltimore, Maryland, United States of America.
13
Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Solna, Stockholm, Sweden.
14
Pediatric Neurology Unit, Edmond & Lily Safra Children's Hospital, Chaim Sheba Medical Center, Tel Hashomer, Israel.
15
Center for Rett Syndrome, Copenhagen, Denmark.
16
Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.
17
Clinic of Child and Adolescent Neuropsychiatry, Department of Medicine and Surgery, University of Salerno, Salerno, Italy.
18
Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
19
Disciplines of Paediatrics and Child Health and Genetic Medicine, University of Sydney, Sydney, New South Wales, Australia.
20
Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
21
Civitan International Research Centre, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
22
Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
23
Katie's Clinic for Rett Syndrome and Related Disorders, UCSF Benioff Children's Hospital, Oakland, California, United States of America.
24
Swedish National Rett Centre, Frösön, Sweden.
25
Department of Community Medicine and Rehabilitation, Physiotherapy, Umeå University, Frösön, Sweden.
26
Department of Physiotherapy, Ariel University, Ariel, Israel.
27
Department of Pediatrics and Neurology, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
28
Fundació Hospital Sant Joan de Déu, Barcelona, Spain.
29
Centre for Biomedical Research on Rare Diseases, Instituto de Salud Carlos III, Barcelona, Spain.
30
Greenwood Genetic Center, Greenwood, South Carolina, United States of America.
31
Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
32
Division of Pediatric Gastroenterology and Nutrition, Edmond & Lily Safra Children's Hospital, Tel Hashomer, Israel.
33
Chaim Sheba Medical Center, Tel Hashomer, Israel.
34
Neuropediatrics, Swedish National Rett Center, Frösön, Sweden.
35
School of Physiotherapy and Exercise Science, Curtin University, Perth, Western Australia, Australia.

Abstract

OBJECTIVES:

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.

CONCLUSION:

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.

PMID:
26849438
PMCID:
PMC4743907
DOI:
10.1371/journal.pone.0146824
[Indexed for MEDLINE]
Free PMC Article

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