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Background: Existing research has demonstrated elevated autistic behaviours in children with neurofibromatosis type 1 (NF1), but the autistic phenotype and its relationship to other neurodevelopmental manifestations of NF1 remains unclear. To address this gap, we performed detailed characterisation of autistic behaviours in children with NF1 and investigated their association with other common NF1 child characteristics. Method(s): Participants were drawn from a larger cross-sectional study examining autism in children with NF1. The population analysed in this study scored above threshold on the Social Responsiveness Scale-Second Edition (T-score >= 60; 51% larger cohort) and completed the Autism Diagnostic Interview-Revised (ADI-R) and/or the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2). All participants underwent evaluation of their intellectual function, and behavioural data were collected via parent questionnaires. Result(s): The study cohort comprised 68 children (3-15 years). Sixty-three per cent met the ADOS-2 'autism spectrum' cut-off, and 34% exceeded the more stringent threshold for 'autistic disorder' on the ADI-R. Social communication symptoms were common and wide-ranging, while restricted and repetitive behaviours (RRBs) were most commonly characterised by 'insistence on sameness' (IS) behaviours such as circumscribed interests and difficulties with minor changes. Autistic behaviours were weakly correlated with hyperactive/impulsive attention deficit hyperactivity disorder (ADHD) symptoms but not with inattentive ADHD or other behavioural characteristics. Language and verbal IQ were weakly related to social communication behaviours but not to RRBs. Limitation(s): Lack of genetic validation of NF1, no clinical diagnosis of autism, and a retrospective assessment of autistic behaviours in early childhood. Conclusion(s): Findings provide strong support for elevated autistic behaviours in children with NF1. While these behaviours were relati

Theory of Mind (ToM) forms an integral component of socially skilled behavior, and is critical for attaining developmentally appropriate goals. The protracted development of ToM is mediated by increasing connectivity between regions of the anatomically distributed 'mentalizing network', and may be vulnerable to disruption from pediatric traumatic brain injury (TBI). The present study aimed to evaluate the post-acute effects of TBI on first-order ToM, and examine relations between ToM and both local and global indices of macrostructural damage detected using susceptibility-weighted imaging (SWI). 104 children and adolescents with TBI and 43 age-matched typically developing (TD) controls underwent magnetic resonance imaging including a susceptibility-weighted imaging (SWI) sequence 2-8 weeks post-injury and were assessed on cognitive ToM tasks at 6-months after injury. Compared to TD controls and children with mild-moderate injuries, children with severe TBI showed significantly poorer ToM. Moreover, impairments in ToM were related to diffuse neuropathology, and parietal lobe lesions. Our findings support the vulnerability of the immature social brain network to disruption from TBI, and suggest that global macrostructural damage commonly associated with traumatic axonal injury (TAI) may contribute to structural disconnection of anatomically distributed regions that underlie ToM. This study suggests that SWI may be a valuable imaging biomarker to predict outcome and recovery of social cognition after pediatric TBI. Copyright © 2014 Elsevier Ltd. All rights reserved.

Childhood and adolescence are critical periods for maturation of neurobiological processes that underlie complex social and emotional behavior including Theory of Mind (ToM). While structural correlates of ToM are well described in adults, less is known about the anatomical regions subsuming these skills in the developing brain or the impact of cerebral insult on the acquisition and establishment of high-level social cognitive skills. This study aimed to examine the differential influence of age-at-insult and brain pathology on ToM in a sample of children and adolescents with traumatic brain injury (TBI). Children and adolescents with TBI (n=112) were categorized according to timing of brain insult: (i) middle childhood (5-9 years; n=41); (ii) late childhood (10-11 years; n=39); and (iii) adolescence (12-15 years; n=32) and group-matched for age, gender, and socioeconomic status to a typically developing (TD) control group (n=43). Participants underwent magnetic resonance imaging including a susceptibility-weighted imaging (SWI) sequence 2-8 weeks postinjury and were assessed on a battery of ToM tasks at 6- and 24-months after injury. Results showed that for adolescents with TBI, social cognitive dysfunction at 6- and 24-months postinjury was associated with diffuse neuropathology and a greater number of lesions detected using SWI. In the late childhood TBI group, we found a time-dependent emergence of social cognitive impairment, linked to diffuse neuropathology. The middle childhood TBI group demonstrated performance unrelated to SWI pathology and comparable to TD controls. Findings indicate that the full extent of social cognitive deficits may not be realized until the associated skills reach maturity. Evidence for brain structure-function relationships suggests that the integrity of an anatomically distributed network of brain regions and their connections is necessary for the acquisition and establishment of high-level social cognitive skills.Copyright © 2014 W

Introduction: Obstructive sleep apnea (OSA) is known to disrupt sleep quality in adults due to frequent arousals. In children, conventional methods suggest sleep may be less disturbed, as only ~50% of apneic events terminate with an EEG arousal. The present study tested the hypothesis that EEG spectral analysis would be more sensitive in identifying EEG arousals at respiratory event terminations in children than standard visually scored assessment of sleep quality. Method(s): 20 healthy children aged 7-12y diagnosed with Moderate/Severe OSA were recruited. Standard polysomnography was performed with EEG bandpass filtered from 0.3Hz to 100Hz and sampled at >500Hz. Respiratory events were categorised into their associated arousal type: cortical arousal, sub-cortical arousal, and non-arousal using visual analysis. Spectral analysis using Fast Fourier Transform was run on consecutive 5 s blocks for 10s before respiratory event onset (averaged for baseline) and for the 10s after event termination. 5 frequency bands were derived: Delta (0-4 Hz), Theta (4-8 Hz), Alpha (8-12 Hz), Sigma (12-14 Hz), and Beta (14-30 Hz). Statistical analysis was performed using 2-way ANOVA with Student Newman Keuls post hoc tests (p < 0.05 being considered significant). Result(s): There was a significant decrease in both Delta and Theta power when comparing baseline to the 10s immediately following respiratory event termination in the cortical arousals (p<0.05 for both). No differences were seen when comparing 5s blocks to baseline in either the subcortical or non-arousal related events in any frequency band. Conclusion(s): The data confirm that children are relatively unlikely to show a cortical arousal at the termination of a respiratory event. We speculate that in children, a stronger sleep-drive preserves sleep quality even in severe OSA.