Consensus Document
Foreword, written by Richard Herriot
22q11 deletions affect health and quality of life from birth through infancy and childhood to adult life with over 180 physical, functional and psychological associations having been reported.
The phenotype is therefore extremely variable, frequently leading to clinical confusion, diagnostic delay, excess morbidity, early mortality and frustration to both affected individuals and their carers. There is, therefore, a definable need for better awareness and understanding of, and coordination of care in,22q11 deletion syndrome (22q11DS).
Care of patients affected by 22q11 deletions is ideally multidisciplinary and, for many, this requirement is lifelong. Early recognition and optimised, integrated care can achieve much in the way of improving outcomes and supporting affected individuals and families. This was the context and the impetus for Max Appeal! to commission and task a committee of national experts to develop consensus guidance with the purpose of steering and influencing improvements in day-to-day care and strategic organisation of more informed support at all tiers across the UK.
The aim of this ambitious project was principally to compile a comprehensive and universally agreed lifelong care plan for people with 22q11DS within the framework of the NHS. Any value which the document may also have beyond UK healthcare structures would be seen as a welcome bonus by the authors.
The Consensus Document is a comprehensive but practical and accessible information resource which has had contributions from major centres across the UK, stakeholder organisations, families and over 50 experts (either as authors or advisers) working in the major clinical fields associated with 22q11 deletion. The Committee hopes that the guidance and information supplied will be of significant material benefit to all patients and families and those who provide care and support to them. In particular, given the heterogeneous clinical impact of 22q11DS, it is hoped that the document will be of broad professional interest, relevance and utility. Max Appeal! and the expert group is committed to the dissemination of this information as a basis for identifying and applying minimum care standards, helping to avoid the situation where every family has to forge their own path to access adequate care.
Knowledge of 22q11DS is ever increasing. The Consensus Document is not intended to be static or written inflexibly in stone and will be revisited as necessary to reflect significant new insights, practices, processes and structures.
The Committee wishes to express its gratitude to everyone who has contributed in any way to the development of this document and to Max Appeal! for the opportunity to participate in this project.
Richard Herriot
Chair of the Max Appeal! Consensus Document Development Committee
' The Consensus Document for 22q11.2 Deletion Syndrome continues to be an important document in the care and management of those affected by 22q11.2 Deletion Syndrome and has been well received by professionals all over the world involved in the treatment and care of those affected.'
This document has been over 4 years in the making and has been written by some of the UK's top experts.
Thanks go to the panel:
Dr Jeremy Allgrove (Editor)
Dr Kate Baker
Dr Helen Baxendale
Dr Frances Bu'Lock
Dieuwertje de Waardt
Dr Helen Firth
Dr Andy Gennery
Dr Alex Habel
Dr Richard Herriot (chair of committee)
Prof Anthony Holland
Dr Claire Illingworth
Dr Dinakantha Kumararatne (Max Appeal trustee)
Mr Nigel Mercer
Dr Merel Pannebakker
Mr Andrew Parry
Anne Roberts
Dr Beverly Tsai-Goodman
Dr Julia Cadogan
We are also very grateful to Hilary Joyce, (former)Max Appeal trustee, for her work in the preparation of the parent friendly version.
Special mention has to be made of Jeremy Allgrove's tireless efforts as editor, an unenviable task!
Dr Alex Habel produced an executive summary of the Consensus Document which was published in the European Journal of Paediatrics (January 2014).
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4032642/
Dr Kumararatne (former trustee) must take credit for joining the Max Appeal board of trustees many years ago and driving this project forward and providing a very small charity with a big opportunity to make a substantial difference.
The Steering Group for the Consensus Document agreed to review the document on a regular basis.
This is the final draft of the 2017 update of the Consensus Document on the diagnosis and management of 22q11 deletion syndrome. The document has been submitted to stakeholders for the approval, and may undergo revision following this process.
This document is being placed on the website, at this stage as it maybe useful to the members of Max Appeal.
Order a copy of the Professional or Parent/Carer Consensus Document
If you would like a paper version of the Parent and Carers Consensus document or the Professional Consensus Document posting to you, please complete the attached form.
Or click an option below to download
