Neurofibromatosis type 1: spotting early signs of autism and ADHD in babies
Published on 3 November 2015
Around one in every 2,500 babies has a genetic condition called neurofibromatosis type 1 (NF1).1 Some will be only mildly affected throughout their lives, others more severely. Around half of babies with NF1 develop attention deficit hyperactivity disorder (ADHD) and at least one quarter develop an autism spectrum condition (ASC).2-4 Professor Mark Johnson, of Birkbeck College London, is looking for early warning signs that can help predict which babies will develop ADHD or an ASC during childhood. This could allow babies, and their families, to access the support they need sooner. It may also help in the development of better treatments.
Action Medical Research and Great Ormond Street Hospital Children's Charity are jointly funding this research.
How are babies’ lives affected now?
When a baby is diagnosed with NF1, there’s no way to tell exactly how his, or her, life will be affected.
Some children are affected very mildly, and may notice nothing more than skin changes – the most common symptom of NF1 is the appearance of painless, coffee-coloured patches on the skin, known as café au lait spots.
Other children are more severely affected. “A minority of children with NF1 have further physical complications, such as disfiguring lumps under their skin, but a great many develop ADHD, which affects behaviour, and ASCs, which affect social interactions, as well as having problems learning in school,” says Professor Jonathan Green, who is working with Professor Johnson on this study. “Having a combination of problems like this makes daily life more difficult.”
“Parents tell us the difficulties associated with ADHD and ASCs can be the most challenging, partly because they often go unrecognised, being dismissed as ‘just part of having NF1’,” adds Professor Green. “It’s clear that the children aren’t getting the support they need soon enough for these problems.”
How could this research help?
The team is searching for ways to tell, much earlier than is currently possible, whether a baby with NF1 is going to develop ADHD, or an ASC.
“If the tests we’re investigating can provide an early warning that a baby with NF1 is likely to develop ADHD, or an ASC, they could enable earlier diagnosis and treatment,” says Professor Johnson. “They could also make it easier to plan what sort of support babies are likely to need, both at home and at school, while they’re growing up. Earlier treatment, and better support, could improve the lives of babies and their families significantly.”
“Tests that can reveal early signs of ADHD and ASCs would also be useful when assessing the benefits of experimental treatments,” says Professor Johnson. “They could help with our ultimate goal of finding ways to stop babies with NF1 from developing ADHD and ASCs, or lessen the severity of their symptoms.”
1. Evans DG et al. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet Part A 2010; 152A: 327–332.
2. NHS Choices. Neurofibromatosis type 1 – Symptoms. http://www.nhs.uk/Conditions/Neurofibromatosis/Pages/Symptoms.aspx Website accessed 23 September 2015.
3. Barton B et al. Social skills of children with neurofibromatosis type 1. Developmental Medicine & Child Neurology 2004; 46: 553-63.
4. Garg S et al. Neurofibromatosis type 1 and autism spectrum disorder. Pediatrics 2013; 132(6): e1642-8. (doi: 10.1542/peds.2013-1868) Epub 2013 Nov 4.
|Project Leader||Professor Mark H Johnson PhD|
|Location||Centre for Brain and Cognitive Development, Department of Psychological Sciences, Birkbeck, University of London|
|Grant awarded||20 July 2015|
|Start date||1 November 2015|
|End date||28 February 2019|
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