Neuropsychology Review

, Volume 28, Issue 3, pp 317–340 | Cite as

Social Function and Autism Spectrum Disorder in Children and Adults with Neurofibromatosis Type 1: a Systematic Review and Meta-Analysis

  • Anita K. ChisholmEmail author
  • Vicki A. Anderson
  • Natalie A. Pride
  • Stephanie Malarbi
  • Kathryn N. North
  • Jonathan M. PayneEmail author


In light of the proliferation of recent research into social function in neurofibromatosis type 1 (NF1), a systematic review and meta-analysis is required to synthesise data and place findings within the context of a theoretical framework. This paper reviews findings from research into social function and autism spectrum disorder (ASD) in children and adults with NF1 and integrates these findings with the Socio-Cognitive Integration Abilities Model (SOCIAL). It also critically appraises links between social outcomes, internal and external factors moderating social functioning, cognitive domains implicated in social functioning, and underlying neural pathology in NF1. A systematic literature search conducted in MedLine (Ovid), PsycINFO (Ovid), Embase (Ovid), and PubMed electronic databases yielded 35 papers that met inclusion criteria for the systematic review. Out of these papers, 22 papers provided sufficient data for meta-analysis. Findings from this review and meta-analysis provide evidence that children and adults with NF1 exhibit significantly higher prevalence and severity of social dysfunction and ASD symptomatology. To date, very few studies have examined social cognition in NF1 but results indicate the presence of both perceptual and higher-level impairments in this population. The results of this review also provide support for age, gender, and comorbid ADHD as moderating factors for social outcomes in NF1. Suggestions for future research are offered to further our understanding of the social phenotype in NF1 and to facilitate the development of targeted interventions.


Neurofibromatosis type 1 Social function Social perception Social cognition Autism spectrum disorder 



The authors acknowledge the assistance of Poh Chua (RCH) for guidance on conducting systematic database searches.

Supplementary material

11065_2018_9380_MOESM1_ESM.docx (54 kb)
ESM 1 (DOCX 53.9 kb)


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Anita K. Chisholm
    • 1
    • 2
    Email author
  • Vicki A. Anderson
    • 1
    • 2
  • Natalie A. Pride
    • 3
  • Stephanie Malarbi
    • 1
    • 2
  • Kathryn N. North
    • 1
    • 2
  • Jonathan M. Payne
    • 1
    • 2
    Email author
  1. 1.Murdoch Childrens Research InstituteRoyal Children’s HospitalMelbourneAustralia
  2. 2.Department of PaediatricsUniversity of MelbourneMelbourneAustralia
  3. 3.Institute for Neuroscience and Muscle ResearchThe Children’s Hospital at WestmeadSydneyAustralia

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