Article Text

other Versions

PDF
Annual review of children with neurofibromatosis type 1
  1. BM Dunning-Davies,
  2. APJ Parker
  1. Department of Paediatric Neuroscience, Addenbrooke's Hospital, Cambridge, UK
  1. Correspondence to Dr A P J Parker, Department of Paediatric Neurology, Box 107, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK; alasdair.parker{at}addenbrookes.nhs.uk

Abstract

We aim to provide a concise, evidence-based framework to assist secondary level, community and acute paediatricians during a 20–60 min annual review of children with neurofibromatosis type 1. This review does not cover all aspects of the disorder. We recognise the importance of an overview of the pathogenesis, molecular genetic testing, clinical manifestations and management; we shall cover some of this briefly, but this is not our focus here. We focus instead on the following areas: (A) what questions should be asked during annual review, (B) what should be included in a focused examination, (C) when to request further investigations and (D) when should a referral be made to tertiary specialists and other members of the multidisciplinary team. Ongoing debates regarding screening remain in certain areas, particularly regarding imaging and ophthalmology follow-up; here we summarise the differing opinions and make a recommendation based on the currently available evidence.

Statistics from Altmetric.com

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.