ArticleHuman brain mapping2014
The genetic and neuroanatomical basis of social dysfunction: lessons from neurofibromatosis type 1.
Article in Human brain mapping, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 5 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
24 citing papers in PubMed, 5 syntheses or guidelines pooled it, 42 citations in OpenAlex.
- Visuospatial and Visuomotor Abilities of Individuals with Neurofibromatosis Type 1: A Systematic Review and Meta-analysis.Neuropsychology review · 2026Pooled it
- Brain volumes in genetic syndromes associated with mTOR dysregulation: a systematic review and meta-analysis.Molecular psychiatry · 2025Pooled it
- Social Communication in Ras Pathway Disorders: A Comprehensive Review From Genetics to Behavior in Neurofibromatosis Type 1 and Noonan Syndrome.Biological psychiatry · 2025Pooled it
- A systematic review and meta-analysis of intellectual, neuropsychological, and psychoeducational functioning in neurofibromatosis type 1.American journal of medical genetics. Part A · 2022Pooled it
- Social Function and Autism Spectrum Disorder in Children and Adults with Neurofibromatosis Type 1: a Systematic Review and Meta-Analysis.Neuropsychology review · 2018Pooled it
- Gut microbiome alterations are sex-dependently associated with brain abnormalities in a mouse model of Neurofibromatosis type I.Molecular psychiatry · 2026Article
- Article
- Quality of life of patients with neurofibromatosis 1-Physical disability does not necessarily result in poor mental health.Frontiers in neurology · 2024Article
- Cognition and behavior in adults with neurofibromatosis type 1.Frontiers in neurology · 2024Article
- Social behavior in RASopathies and idiopathic autism.Journal of neurodevelopmental disorders · 2022Article
- The p21-activated kinases in neural cytoskeletal remodeling and related neurological disorders.Protein & cell · 2022Review
- Dissociated Deficits between Explicit and Implicit Empathetic Pain Perception in Neurofibromatosis Type 1.Brain sciences · 2021Article
- Alterations in brain morphology by MRI in adults with neurofibromatosis 1.Orphanet journal of rare diseases · 2021Article
- Discriminating between neurofibromatosis-1 and typically developing children by means of multimodal MRI and multivariate analyses.Human brain mapping · 2019Article
- What Do You Have in Mind? Measures to Assess Mental State Reasoning in Neuropsychiatric Populations.Frontiers in psychiatry · 2019Review
- Abnormal Morphology of Select Cortical and Subcortical Regions in Neurofibromatosis Type 1.Radiology · 2018Article
- White matter microstructure of patients with neurofibromatosis type 1 and its relation to inhibitory control.Brain imaging and behavior · 2017Article
- Imaging genetics in neurodevelopmental psychopathology.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2017Review
- Brain and behaviour phenotyping of a mouse model of neurofibromatosis type-1: an MRI/DTI study on social cognition.Genes, brain, and behavior · 2016Article
- White matter tracts critical for recognition of sarcasm.Neurocase · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neurofibromatosis type 1 (NF1) is a common genetic condition associated with cognitive and social dysfunction as well as abnormal brain structure. The pathophysiology underlying social dysfunction in NF1 is poorly understood. Here, we investigate for the first time whether there is a broad deficit of social cognition in NF1 and explore the neural correlates for these deficits. Twenty-nine adults with NF1 and 30 controls were administered an ecologically based test of social cognition, The Awareness of Social Inference Test (TASIT), to identify deficits in emotion recognition and sarcasm detection. We employed voxel-based morphometry in a subset of NF1 patients (n = 16) and 16 additional controls to examine the neural correlates of these deficits. Results indicated that adults with NF1 were impaired in their ability to understand paradoxical sarcasm and their capacity to recognize emotion, particularly anger. TASIT performance was not associated with measures of attention, visuospatial skills or executive function. Relative to controls, gray matter (GM) volume within the right superior temporal gyrus (STG) was decreased, after controlling for total brain volume. Decreased volume in this region was significantly associated with social cognitive deficits in adults with NF1. We conclude that patients with NF1 are at high risk for a social cognitive deficit and provide evidence for a neuroanatomical basis for this deficit; GM volumetric reductions in the right STG. These findings improve our understanding of the nature of social interaction impairments in NF1 and add to the growing body of literature indicating the STG as a critical brain region for social cognition.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.