| Summary: | Neurofibromatosis type 1 (NO) is a genetic condition with a penetrance of approximately 1 in 4000. Most research has concentrated on the genetic basis although more recent work has attempted to identify childhood learning difficulties which are estimated to affect between 30% and 50% of those with Nf1. Studies also appear to suggest that the cognitive deficit is likely to be an executive dysfunction. Social and emotional behaviour in Nf1 has been somewhat ignored as a subject for research despite anecdotal evidence from parents and clinicians regarding possible deficits in ~his area. This research therefore aims 10 redress this omission and is in three parts. Firstly to ascertain whether a specific psychosocial deficit does indeed exists in Nf1; secondly to investigate what these deficits may be and how they present and thirdly to see if deficits which have been previously identified in other conditions with recognised social and emotional problems are also present in Nf1. Through a qualitative study of late diagnosed adults, deficits in social and emotional behaviour, specifically friendship, were identified. A quantitative study with children indicated problems in relationship functioning, particularly in self-efficacy in peer interaction and intimacy in friendship, and differences in the way social information is processed with deficits in Theory of Mind and prosopagnosia. In addition executive function deficits, specifically working memory and attention, which can be related to social cognitive deficits, have also been identified. Some deficits which are also found in ASD have been identified in Nf1; this is however a preliminary finding; but may suggest that this aspect is worthy of further research.
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