Charities to launch initiative ahead of World Neurofibromatosis Awareness Day

The Neuro Foundation and sister charities set to launch 'light up' campaigns to raise awareness of World Neurofibromatosis Awareness Day on May 17. 

World Neurofibromatosis Awareness Day is on 17 May. The Neuro Foundation and sister charities worldwide are launching campaigns to raise awareness including Shine a Light on NF where owners of buildings and landmarks across the globe are being asked to light them up in blue and green

Picture: Alamy

Neurofibromatosis Type 1 (NF1) is a common autosomal dominant genetic condition with an estimated birth incidence of one in every 2,699 (Evans et al 2010). NF1 is characterised by café au lait patches (flat, coffee-coloured marks) skin fold freckling, iris Lisch nodules and benign peripheral nerve sheath tumours called neurofibromas (National Institutes of Health Consensus Neurofibromatosis Conference 1988). NF1 mainly affects the skin and peripheral nervous system and causes characteristic bony dysplasia (Ferner). The complications are variable, unpredictable and widespread, ranging from learning disabilities, high blood pressure and gastrointestinal symptoms to disfigurement and malignancy.

This article seeks to highlight the comorbidity of NF1 with learning disabilities, autism and attention deficit hyperactivity disorder (ADHD) or attention deficit disorder (ADD) without the hyperactivity component. Between 30 and 50% of all children with NF1 meet the criteria for a diagnosis of ADD/ADHD (Payne et al 2012). This is a much higher incidence compared to the non-NF1 population where this figure is estimated to be about 5%.

A small team of NF specialist advisors is part funded by the Neuro Foundation and the NHS. These specialist advisors can arrange to attend a meeting at school with the parents, the child’s teacher, special education needs coordinators, learning support assistants and any other professional involved. Challenging and difficult behaviour is often the first thing to present.


About 81% of children with NF1 have moderate to severe impairment in one or more areas of cognitive functioning, including problems with attention, executive function language and visual perception, which cause significant morbidity (Hyman et al 2005). Garg et al (2013) highlighted that 45.7% of participants with NF1 showed some autistic spectrum disorder (ASD) phenotype. These findings indicate a high prevalence of ASD in NF1.

Children with NF1 are often described as clumsy and uncoordinated, falling over a lot, bumping into things. Many have poor fine and gross motor skills and low self-esteem issues can also adversely affect children with NF1. Many children are diagnosed with dyspraxia but the majority, although significantly affected, do not fulfil the criteria for a diagnosis. Many benefit greatly from occupational therapy and/or physiotherapy.

Attitude shifting and changing perceptions

The advisor’s link with the child’s associated professionals – such as teachers, speech and language and other therapists – and give advice. This experienced group of professionals can find working with children with NF1 baffling. Although it is a common genetic condition, the learning and behaviour problems that affect a high proportion of children tend to be regarded as ‘just part of NF1’.

Talking this through with professionals leads to a shift in attitude so increasingly children are diagnosed with ADHD/ADD and/or ASD and supported appropriately. This makes their learning experience in school more positive and is conducive to increasing their confidence and academic achievements.


Carolyn Smyth is a specialist nurse in neurofibromatosis at Birmingham Women’s and Children’s NHS Foundation Trust


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