Search

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. [ABSTRACT FROM AUTHOR]

Aim Although approximately 40% of children with neurofibromatosis type 1 (NF1) meet diagnostic criteria for attention-deficit-hyperactivity disorder (ADHD), the impact of ADHD on the executive functioning of children with NF1 is not understood. We investigated whether spatial working memory and response inhibition are impaired in children with NF1 without a diagnosis of ADHD and whether executive deficits are exacerbated in children with a comorbid diagnosis. Method Forty-nine children aged 7 to 15 years with NF1 only (31 males, 18 females; mean age 11y, SD 2y 4mo) or 35 with NF1 and ADHD (18 males, 17 females; mean age 10y 8mo, SD 2y 4mo) and 30 typically developing comparison children (16 males, 14 females; mean age 10y, SD 2y 8mo) were compared on measures of spatial working memory and response inhibition. Group differences in IQ and visuospatial ability were controlled for as required. Results Compared with typically developing children, children with NF1 with or without comorbid ADHD demonstrated significant impairment of both spatial working memory (both p<0.004) and inhibitory control (both p<0.010). There were, however, no differences between the two NF1 groups in spatial working memory ( p=0.91) or response inhibition ( p=0.78). Interpretation Executive dysfunction occurs with the same severity in children with NF1, whether or not they have a comorbid diagnosis of ADHD, suggesting that executive impairments are not unique contributors to ADHD symptomatology in NF1. The findings are discussed within the context of recent evidence in Nf1 optic glioma (OPG) mice, in which a mechanistic connection between NF1 gene expression, executive system failure, and dopaminergic pathway integrity has been established. [ABSTRACT FROM AUTHOR]

Neurofibromatosis type 1 (NF1) is associated with cognitive dysfunction and structural brain abnormalities such as an enlarged corpus callosum. This study aimed to determine the relationship between corpus callosum morphology and cognitive function in children with neurofibromatosis type 1 using quantitative neuroanatomic imaging techniques. Children with neurofibromatosis type 1 (n = 46) demonstrated a significantly larger total corpus callosum and corpus callosum index compared with control participants (n = 30). A larger corpus callosum index in children with neurofibromatosis type 1 was associated with significantly lower IQ, reduced abstract concept formation, reduced verbal memory, and diminished academic ability, specifically reading and math. Our results suggest an enlarged corpus callosum in children with neurofibromatosis type 1 is associated with cognitive impairment and may provide an early structural marker for the children at risk of cognitive difficulties. Cognitive deficits associated with structural brain abnormalities in neurofibromatosis type 1 are unlikely to be reversible and so may not respond to proposed pharmacological therapies for neurofibromatosis type 1-related cognitive impairments. [ABSTRACT FROM AUTHOR]