Guidelines endorsed by RCPCH - Inherited metabolic medicine

The College reviews high quality guidelines and standards produced and published by other organisations against the RCPCH Standards for Endorsement. We believe the following publications will be of interest to paediatricians working in inherited metabolic medicine.

The following have been endorsed by the College.

Endorsed guidelines

Autism spectrum disorders in children and young people: recognition, referral and diagnosis (NICE)

This guideline covers the recognition, referral and diagnosis of autism in children and young people from birth up to 19 years. It emphasises the need for coordination between health agencies and other key services.

RCPCH comment: We note that some of the service descriptions may have implications for trainees. NICE states that "the GDG acknowledge that it is important to consider the different ways in which these services operate, and how trainees are supported and supervised. The descriptions are not meant as specific blue prints for how services should operate."

Date of publication: September 2011
Date of endorsement: September 2011

Full guideline (PDF, 262KB, 57 Pages) 

Familial Hypercholesterolemia (NICE)

This guideline covers the diagnosis, identification strategies, drug, specific and general treatments and assessment and monitoring of familial hypercholesterolemia (FH) in individuals with possible or definite FH. It is particularly relevant to those who work in the primary, secondary and tertiary care dealing with case identification, diagnostic testing and the management of heterozygous FH in adults and children and homozygous FH in all age groups.

The guideline is accompanied by a quick reference guide, costing tools, and slides highlighting the key messages and includes key priorities for implementation and audit criteria

Date of Publication: August 2008
Date of Endorsement: February 2009

Full guideline (PDF, 1.24MB, 244 Pages)
NICE guideline (PDF, 746KB, 48 Pages)

Management of the Child with a Decreased Conscious Level (PAERG)

The scope of the guideline includes children aged 0-18 years who have a decreased conscious level and are being reviewed in a hospital setting. Decreased conscious level is defined as a modified Glasgow coma score less than 14, or being unresponsive only to voice or being unresponsive on the AVPU scale. The guideline does not apply to pre-term infants on a NICU or full term infants with a decreased conscious level from birth onwards. Also, the guideline does not apply to children with a previously diagnosed condition that is known to cause the decreased conscious level.

The guideline is accompanied by a quick reference algorithm, guide to implementation and audit criteria.

Date of Publication: November 2005
Date of Endorsement: October 2006

Full guideline (PDF, 594KB, 88 Pages)
Recommendations summary (PDF, 442KB, 59 Pages)

Organ donation for transplantation (NICE)

This guideline recognises the complexities that arise owing to the majority of potential adult and paediatric organ donors lacking the capacity to be directly involved in decision making at the time of their death. It covers strategies for improving donor identification and consent rates for deceased organ donation.

RCPCH notes:

The College asks members to note that:

  • There are few data on the validity of trigger tools in paediatric practice. NICE’s response to this comment is as follows: ‘The GDG made their decisions using the best available evidence, and where this was not available or lacking, the GDG based their recommendations on their clinical experience.’ It should be noted that NICE has deemed the best evidence from studies investigating conversion of patients displaying clinical triggers into organ donors is of very low quality.
  • Explicit reference to contraindications to donation from a paediatric perspective is not covered by the guideline.  This is because the GDG agreed that contraindications should not be included due to the rapid pace at which changes to contraindications occur particularly in paediatric patients.

Date of Publication: December 2011
Date of Endorsement: February 2012

NICE guideline (PDF, 168MB, 26 pages)

Performance of the Sweat Test for the Investigation of Cystic Fibrosis in the UK (ACB)

This evidence based guideline was produced by the Association for Clinical Biochemistry & Laboratory Medicine (ACB). They are aimed at the following staff involved in the pathway for the diagnosis of cystic fibrosis by sweat test: laboratory staff, scientists and chemical pathologists, clinicians requesting the test and overseeing patient care, nursing staff involved in patient care.
The guideline applies to subjects of all ages from neonates, through infancy, childhood and adulthood; however, is primarily geared toward the paediatric population, where the majority of testing is undertaken.
It is intended that the recommendations contained in this updated guideline will be adopted for local use in the UK, wherever sweat testing for the investigation of cystic fibrosis is performed. 
This guideline outlines how to perform the sweat test for the investigation of cystic fibrosis in the UK. It outlines the evidence available and what the recommendations are (e.g. what patient information needs to be provided, which patients are suitable to a have sweat test, and how should sweat be collected and analysed).
This is an update of the 2003 Performance of the Sweat Test for the Investigation of Cystic Fibrosis.
Date of Publication: March 2014
Date of Endorsement: March 2014

Full guideline (PDF, 697KB, 121 Pages)

Urinary Tract Infections in Infants, Children and Young People (NICE)

This quality standard cover the care of infants, children and young people under 16 years with a first of recurrent upper or lower urinary tract infection and without known underlying uropathy.

Date of publication: July 2013
Date of Endorsement: October 2013

Full quality standard (PDF, 170KB, 31 Pages)