Wakeling, EL;
Brioude, F;
Lokulo-Sodipe, O;
O'Connell, SM;
Salem, J;
Bliek, J;
Canton, APM;
... Netchine, I; + view all
(2016)
Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Nature Reviews Endocrinology
, 13
(2)
pp. 105-124.
10.1038/nrendo.2016.138.
Preview |
Text
Moore-G_Diagnosis and management Silver Russell syn_.pdf - Published Version Download (565kB) | Preview |
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.
| Type: | Article |
|---|---|
| Title: | Diagnosis and management of Silver-Russell syndrome: first international consensus statement |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1038/nrendo.2016.138 |
| Publisher version: | http://doi.org/10.1038/nrendo.2016.138 |
| Language: | English |
| Additional information: | Copyright © 2017 Macmillan Publishers Limited, part of Springer Nature. All rights reserved. This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http:// creativecommons.org/licenses/by/4.0/ |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Endocrinology & Metabolism, For-gestational-age, Children Born Small, Growth-hormone Treatment, Maternal Uniparental Disomy, Prader-willi-syndrome, 11p15-associated Imprinting Disorders, Methylation Analysis Reveals, Beckwith-wiedemann Syndromes, Randomized Controlled-trial, Clinical Scoring System |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1531436 |
Archive Staff Only
 |
View Item |
