Diagnosis and management of Silver–Russell syndrome: first international consensus statement

Research output: Contribution to journalArticle

Authors

  • Emma Wakeling
  • Frederic Brioude
  • Oluwakemi Lokulo-Sodipe
  • Susan O'Connell
  • Jennifer Salem
  • Jet Bilek
  • Ana Canton
  • Krystyna Chrzanowska
  • Justin Davies
  • Beatrice Dubern
  • Miriam Elbracht
  • Eloise Giabicani
  • Adda Grimberg
  • Karen Groenskov
  • Anita Hokken-Koelega
  • Alexander Jorge
  • Masayo Kagami
  • Agnes Linglart
  • Mohamad Maghnie
  • Klaus Mohnike
  • David Monk
  • Gudrun Elisabeth Moore
  • Philip Murray
  • Tsutomu Ogata
  • Isabelle Petit
  • Silvia Russo
  • Edith Said
  • Meropi Toumba
  • Zeynep Turner
  • Gerhard Binder
  • Thomas Eggermann
  • Madeleine D Harbison
  • I Karen Temple
  • Deborah Mackay
  • Irene Netchine

External organisations

  • North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Watford Road, Harrow, HA1 3UJ
  • AP-HP, Hopitaux Universities Paris, Hopital des Enfants Armand Trousseau, Serivce d'Exportations Fonctionnelles Endocriniennes, 26 avenue de Dr Arnold Netter, 75012 Paris, France
  • Department of Child Health, Clinical and Experimental Sciences, Faculty of Medicine, Southampton General Hospital, University of Southampton, Southampton
  • Department of Paediatrics and Child Health, Cork University Hospital, Wilton, Cork, T12 DC4A, Ireland
  • MAGIC Foundation, 6645 W. North Avenue, Oak Park, IL 60302, USA
  • Academic Medical Centre, Department of Clinical Genetics, Meibergdreef 15, 1105AZ, Amsterdam
  • Insitute of Human Genetics, Technical University of Aachen, Pauwelsstr 30, D-52074 Aachen, Germany
  • Universidade de Sao Paulo
  • Department of Medical Genetics, The Children's Memorial Health Insitute, Al.Dzieci Polskich 20, 04-730 Warsaw, Poland
  • Southampton General Hospital, University Hospital Southampton NHS Foundation Trust, Southampton, Hampshire, UK.
  • The Children's Hospital of Philadelphia
  • Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark
  • Erasmus University Medical Center
  • Department of Molecular Endocrinology, National Research Institute for Child Health & Development, 2-10-1 Ohkura, Setagayaku, Tokyo
  • APHP, Department of Paediatric Endocrinology, Hospital Bicetre Paris Sud, France
  • University of Genova
  • Otto Von Guericke Univ
  • Cancer Epigenetic and Biology Program, Bellvitge Biomedical Research Institute, Barcelona, Spain
  • University College London
  • Centre for Paediatrics & Child Health, Institute of Human Development, Royal Manchester Children's Hospital, Oxofrod Road, Manchester
  • Department of Paedicatrics, Hamamatsu University School of Medicine, Japan
  • Pediatric Endocrinology, Genetic, Bone Diseases & Gynecology Unit, Children Hospital, 31059 Toulouse, France
  • Instituto Auxologico Italiano, Cytogenetic & Molecular Genetic Lab, via Ariosto 13 20145 Milano
  • University of Malta
  • IASIS Hospital, 8 Voriou Ipirou, 8036, Paphos, Cyprus
  • Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • University Children's Hosptial, Pediatric Endocrinology, Hoppe-Seyler-Strasse, 1,72070 Tuebingen, Germany
  • Institue of Human Genetics, Technical University of Aachen, Aachen, Germany
  • Mount Sinai School of Medicine, 5 E 98th St ~1192, New York, 10029, USA
  • Clinical and Experimental Sciences; Faculty of Medicine; University of Southampton; Southampton UK

Abstract

This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver–Russell syndrome (SRS), an imprinting disorder that causes prenatal and postnatal growth retardation. Considerable overlap exists between the care of individuals born small for gestational age and those with SRS. However, many specific management issues exist and evidence from controlled trials remains limited. SRS is primarily a clinical diagnosis; however, molecular testing enables confirmation of the clinical diagnosis and defines the subtype. A 'normal' result from a molecular test does not exclude the diagnosis of SRS. The management of children with SRS requires an experienced, multidisciplinary approach. Specific issues include growth failure, severe feeding difficulties, gastrointestinal problems, hypoglycaemia, body asymmetry, scoliosis, motor and speech delay and psychosocial challenges. An early emphasis on adequate nutritional status is important, with awareness that rapid postnatal weight gain might lead to subsequent increased risk of metabolic disorders. The benefits of treating patients with SRS with growth hormone include improved body composition, motor development and appetite, reduced risk of hypoglycaemia and increased height. Clinicians should be aware of possible premature adrenarche, fairly early and rapid central puberty and insulin resistance. Treatment with gonadotropin-releasing hormone analogues can delay progression of central puberty and preserve adult height potential. Long-term follow up is essential to determine the natural history and optimal management in adulthood.

Details

Original languageEnglish
JournalNature Reviews Endocrinology
Early online date2 Sep 2016
Publication statusE-pub ahead of print - 2 Sep 2016