Understanding nonliteral language abilities in children with neurofibromatosis type 1.

OBJECTIVE: Neurofibromatosis Type 1 (NF1) is a genetic syndrome that affects cognitive, behavioral, and social development. Nonliteral language (NLL) comprehension has not been examined in children with NF1. This study examined NLL comprehension in children with NF1 and associated neuropsychological correlates. METHOD: NLL comprehension was examined in children with NF1 (n = 49) and typically developing (TD) controls (n = 27) aged 4-12 years using a novel NLL task. The task assessed comprehension of sarcasm, metaphor, simile, and literal language. Cognitive (Wechsler Scales Composites or the Woodcock-Johnson Test of Cognitive Abilities Revised scaled scores) and behavioral (attention deficit hyperactivity disorder [ADHD] symptoms) correlates of NLL comprehension in children with NF1 were also examined. RESULTS: Children with NF1 demonstrated significantly poorer sarcasm comprehension than TD children and a vulnerability in metaphor comprehension. Simile and literal language comprehension were not significantly different between groups. Working memory difficulties and impulsive/hyperactive ADHD symptoms were associated with a reduced ability to identify sarcasm in NF1, while verbal comprehension, fluid reasoning, and inattentive ADHD symptoms were not. CONCLUSIONS: Results suggest children with NF1 experience challenges in understanding complex NLL comprehension, which are related to reduced working memory and increased impulsivity/hyperactivity. This study provides an initial insight into the figurative language abilities of children with NF1, which should be examined in relation to their social difficulties in future studies. (PsycInfo Database Record (c) 2023 APA, all rights reserved).

Delineating Visual Habituation Profiles in Preschoolers with Neurofibromatosis Type 1 and Autism Spectrum Disorder: A Cross-Syndrome Study.

Atypical habituation to repetitive information has been commonly reported in Autism Spectrum Disorder (ASD) but it is not yet clear whether similar abnormalities are present in Neurofibromatosis Type 1 (NF1). We employed a cross-syndrome design using a novel eye tracking paradigm to measure habituation in preschoolers with NF1, children with idiopathic ASD and typically developing (TD) children. Eye movements were recorded to examine fixation duration to simultaneously presented repeating and novel stimuli. Children with NF1 showed a bias for longer look durations to repeating stimuli at the expense of novel stimuli, and slower habituation in NF1 was associated with elevated ASD traits. These findings could indicate aberrant modulation of bottom-up attentional networks that interact with the emergence of ASD phenotypes.

A prospective, longitudinal, case-control study to evaluate the neurodevelopment of children from birth to adolescence exposed to COVID-19 in utero.

BACKGROUND: The Coronavirus disease (COVID-19) pandemic has created unprecedented acute global health challenges. However, it also presents a set of unquantified and poorly understood risks in the medium to long term, specifically, risks to children whose mothers were infected with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) during pregnancy. Infections during pregnancy can increase the risk of atypical neurodevelopment in the offspring, but the long-term neurodevelopmental impact of in utero COVID-19 exposure is unknown. Prospective, longitudinal studies are needed to evaluate children exposed in utero to SARS-CoV2 to define this risk. METHODS: We have designed a prospective, case-controlled study to investigate the long-term impacts of SARS-CoV2 exposure on children exposed in utero. Women infected with SARS-CoV-2 during pregnancy will be recruited from Monash Health, the Royal Women's Hospital and Western Health (Melbourne, Australia) and Londrina Municipal Maternity Hospital Lucilla Ballalai and PUCPR Medical Clinical (Londrina, Brazil). A control group in a 2:1 ratio (2 non-exposed: 1 exposed mother infant dyad) comprising women who gave birth in the same month of delivery, are of similar age but did not contract SARS-CoV-2 during their pregnancy will also be recruited. We aim to recruit 170 exposed and 340 non-exposed mother-infant dyads. Clinical and socio-demographic data will be collected directly from the mother and medical records. Biospecimens and clinical and epidemiological data will be collected from the mothers and offspring at multiple time points from birth through to 15 years of age using standardised sample collection, and neurological and behavioural measures. DISCUSSION: The mapped neurodevelopmental trajectories and comparisons between SARS-CoV-2 exposed and control children will indicate the potential for an increase in atypical neurodevelopment. This has significant implications for strategic planning in the mental health and paediatrics sectors and long-term monitoring of children globally.

Sex- and age-related differences in autistic behaviours in children with neurofibromatosis type 1.

This study investigated sex and age differences in autistic behaviours in children with neurofibromatosis type 1 (NF1) who scored within the clinical range on the Social Responsiveness Scale - Second Edition (T score ≥ 60). Thirty-four males and 28 females (3-16 years) were assessed with the Autism Diagnostic Observation Schedule - Second Edition and Autism Diagnostic Interview - Revised. Across both measures, males exhibited greater social communication deficits relative to females. Age-related abatement of social communication difficulties was observed for males but not females. Conversely, no sex differences were found for restricted/repetitive behaviours, which were stable over time for both males and females. The findings are discussed within the context of broader neurodevelopmental considerations that are common in NF1.

Cognitive and perceptual impairments in schizophrenia extend to other psychotic disorders but not schizotypy.

Well characterised cognitive and perceptual impairments in schizophrenia may not be diagnostically specific with some studies suggesting no significant differences between psychotic disorders. This transdiagnostic ambiguity is paralleled in the boundary distinctions between psychotic disorders and the sub-threshold symptomatology of schizotypy. The current study used the CNTRACS test battery to explore if performance deficits in visual integration, relational memory and goal maintenance were specific to schizophrenia or extend to other psychotic disorders; and if task performance varied between individuals with schizophrenia and schizotypy in healthy adults. The sample consisted of healthy controls, and patients who met DSM-IV criteria for schizophrenia, other psychotic disorders and non-psychotic disorders who were tested in person; and an online sample of self-assessed healthy adults. No significant differences were found in performance between patients with schizophrenia and other psychotic disorders in contrast to non-psychotic disorders and healthy controls. The high schizotypy group performed better on the tasks compared to the other psychoses and schizophrenia groups. There were no differences in the healthy control group between individuals with high versus low schizotypy or between in-person and online task performance. These findings support the notion that cognitive and perceptual impairments in schizophrenia extend to other psychotic disorders but are discontinuous with schizotypy. This study provides insights into similarities between schizophrenia and other psychotic disorders with regards to the potential neural substrates underpinning these functions and supports the use of online tools for assessing domains of cognition and perception.

Delineating the autistic phenotype in children with neurofibromatosis type 1.

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. METHODS: 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. RESULTS: 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. LIMITATIONS: Lack of genetic validation of NF1, no clinical diagnosis of autism, and a retrospective assessment of autistic behaviours in early childhood. CONCLUSIONS: Findings provide strong support for elevated autistic behaviours in children with NF1. While these behaviours were relatively independent of other NF1 comorbidities, the importance of taking broader child characteristics into consideration when interpreting data from autism-specific measures in this population is highlighted. Social communication deficits appear similar to those observed in idiopathic autism and are coupled with a unique RRB profile comprising prominent IS behaviours. This autistic phenotype and its relationship to common NF1 comorbidities such as anxiety and executive dysfunction will be important to examine in future research. Current findings have important implications for the early identification of autism in NF1 and clinical management.

The mediating role of ADHD symptoms between executive function and social skills in children with neurofibromatosis type 1.

Children with neurofibromatosis type 1 (NF1) often experience executive dysfunction, attention deficit/hyperactivity disorder (ADHD) symptoms and poor social skills, however, the nature of the relationships between these domains in children with NF1 is unclear. This study investigated these relationships using primary caregiver ratings of executive functions, ADHD symptoms and social skills in children with NF1. Participants were 136 children with NF1 and 93 typically developing (TD) controls aged 3-15 years recruited from 3 multidisciplinary neurofibromatosis clinics in Melbourne and Sydney, Australia, and Washington DC, USA. Mediation analysis was performed on primary outcome variables: parent ratings of executive functions (Behavior Rating Inventory of Executive Function, Metacognition Index), ADHD symptoms (Conners-3/Conners ADHD Diagnostic and Statistical Manual for Mental Disorders Scales) and social skills (Social Skills Improvement System-Rating Scale), adjusting for potential confounders (full scale IQ, sex, and social risk). Results revealed significantly poorer executive functions, elevated ADHD symptoms and reduced social skills in children with NF1 compared to controls. Poorer executive functions significantly predicted elevated ADHD symptoms and poorer social skills. Elevated ADHD symptoms significantly mediated the relationship between executive functions and social skills problems although did not fully account for social dysfunction. This study provides evidence for the importance of targeting ADHD symptoms as part of future interventions aimed at promoting prosocial behaviors in children with NF1.

Dynamic face processing impairments are associated with cognitive and positive psychotic symptoms across psychiatric disorders.

Impairments in social cognition-including recognition of facial expressions-are increasingly recognised as a core deficit in schizophrenia. It remains unclear whether other aspects of face processing (such as identity recognition) are also impaired, and whether such deficits can be attributed to more general cognitive difficulties. Moreover, while the majority of past studies have used picture-based tasks to assess face recognition, literature suggests that video-based tasks elicit different neural activations and have greater ecological validity. This study aimed to characterise face processing using video-based stimuli in psychiatric inpatients with and without psychosis. Symptom correlates of face processing impairments were also examined. Eighty-six psychiatric inpatients and twenty healthy controls completed a series of tasks using video-based stimuli. These included two emotion recognition tasks, two non-emotional facial identity recognition tasks, and a non-face control task. Symptoms were assessed using the Positive and Negative Syndrome Scale. Schizophrenia and bipolar disorder groups were significantly impaired on the emotion-processing tasks and the non-face task compared to healthy controls and patients without psychosis. Patients with other forms of psychosis performed intermediately. Groups did not differ in non-emotional face processing. Positive symptoms of psychosis correlated directly with both emotion-processing performance and non-face discrimination across patients. We found that identity processing performance was inversely associated with cognition-related symptoms only. Findings suggest that deficits in emotion-processing reflect symptom pathology independent of diagnosis. Emotion-processing deficits in schizophrenia may be better accounted for by task-relevant factors-such as attention-that are not specific to emotion processing.

Stronger Top-Down and Weaker Bottom-Up Frontotemporal Connections During Sensory Learning Are Associated With Severity of Psychotic Phenomena.

Recent theories in computational psychiatry propose that unusual perceptual experiences and delusional beliefs may emerge as a consequence of aberrant inference and disruptions in sensory learning. The current study investigates these theories and examines the alterations that are specific to schizophrenia spectrum disorders vs those that occur as psychotic phenomena intensify, regardless of diagnosis. We recruited 66 participants: 22 schizophrenia spectrum inpatients, 22 nonpsychotic inpatients, and 22 nonclinical controls. Participants completed the reversal oddball task with volatility manipulated. We recorded neural responses with electroencephalography and measured behavioral errors to inferences on sound probabilities. Furthermore, we explored neural dynamics using dynamic causal modeling (DCM). Attenuated prediction errors (PEs) were specifically observed in the schizophrenia spectrum, with reductions in mismatch negativity in stable, and P300 in volatile, contexts. Conversely, aberrations in connectivity were observed across all participants as psychotic phenomena increased. DCM revealed that impaired sensory learning behavior was associated with decreased intrinsic connectivity in the left primary auditory cortex and right inferior frontal gyrus (IFG); connectivity in the latter was also reduced with greater severity of psychotic experiences. Moreover, people who experienced more hallucinations and psychotic-like symptoms had decreased bottom-up and increased top-down frontotemporal connectivity, respectively. The findings provide evidence that reduced PEs are specific to the schizophrenia spectrum, but deficits in brain connectivity are aligned on the psychosis continuum. Along the continuum, psychotic experiences were related to an aberrant interplay between top-down, bottom-up, and intrinsic connectivity in the IFG during sensory uncertainty. These findings provide novel insights into psychosis neurocomputational pathophysiology.

Aberrant connectivity in auditory precision encoding in schizophrenia spectrum disorder and across the continuum of psychotic-like experiences.

BACKGROUND: The ability to generate a precise internal model of statistical regularities is impaired in schizophrenia. Predictive coding accounts of schizophrenia suggest that psychotic symptoms may be explained by a failure to build precise beliefs or a model of the world. The precision of this model may vary with context. For example, in a noisy environment the model will be more imprecise compared to a model built in an environment with lower noise. However compelling, this idea has not yet been empirically studied in schizophrenia. METHODS: In this study, 62 participants engaged in a stochastic mismatch negativity paradigm with high and low precision. We included inpatients with a schizophrenia spectrum disorder (N = 20), inpatients with a psychiatric disorder but without psychosis (N = 20), and healthy controls (N = 22), with comparable sex ratio and age distribution. Bayesian mapping and dynamic causal modelling were employed to investigate the underlying microcircuitry of precision encoding of auditory stimuli. RESULTS: We found strong evidence (exceedance P > 0.99) for differences in the underlying connectivity associated with precision encoding between the three groups as well as on the continuum of psychotic-like experiences assessed across all participants. Critically, we show changes in interhemispheric connectivity between the two inpatient groups, with some connections further aligning on the continuum of psychotic-like experiences. CONCLUSIONS: While our results suggest continuity in backward connectivity alterations with psychotic-like experiences regardless of diagnosis, they also point to specificity for the schizophrenia spectrum disorder group in interhemispheric connectivity alterations.

Evaluation of an alternative model for the management of clinical risk in an adult acute psychiatric inpatient unit.

Despite their widespread use, typical visual observation practices are not evidence-based and adverse events - such as self-harm and absconding - still occur even under the most intense forms of observation. This study aimed to (i) develop and implement an engagement-focused systematized model of clinical risk management in an adult acute psychiatric inpatient unit; and (ii) prospectively evaluate its effect on rates of violence, self-harm, absconding, sexually inappropriate behaviour, and seclusion. A new model of engagement-focused clinical risk management was developed using a participatory action research framework and implemented in an adult acute psychiatric inpatient unit. Using a mirror-image design, rates of violence/aggression, self-harm, absconding, sexually inappropriate behaviour, and seclusion were compared before and after implementation, and staff satisfaction levels were measured. The clinical engagement-based model was introduced, and 1087 admissions before implementation (24 months) were compared with 965 admissions post-implementation (18 months). The new model was associated with significantly reduced rates of absconding (pre: 10.5/1000 occupied bed days, 95% CI [9.0, 12.1] compared with post: 6.5/1000 occupied bed days [5.2, 8.1], P < 0.001) and seclusion (pre: 43.7/1000 occupied bed days, 95% CI [40.6, 46.9] compared with post: 30.9/1000 occupied bed days [27.9, 34.1], P < 0.0001). Rates of aggression, deliberate self-harm, and sexually inappropriate behaviour were non-significantly decreased. Findings suggest that this engagement-focused model of clinical risk management in an adult psychiatric inpatient unit significantly reduced adverse patient events and was preferred by staff over current practice. Other psychiatric inpatient facilities may see a reduction in adverse events following the introduction of this well-tolerated risk management model.

A Novel Dynamic Morphed Stimuli Set to Assess Sensitivity to Identity and Emotion Attributes in Faces.

Face-based tasks are used ubiquitously in the study of human perception and cognition. Video-based (dynamic) face stimuli are increasingly utilized by researchers because they have higher ecological validity than static images. However, there are few ready-to-use dynamic stimulus sets currently available to researchers that include non-emotional and non-face control stimuli. This paper outlines the development of three original dynamic stimulus sets: a set of emotional faces (fear and disgust), a set of non-emotional faces, and a set of car animations. Morphing software was employed to vary the intensity of the expression shown and to vary the similarity between actors. Manipulating these dimensions permits us to create tasks of varying difficulty that can be optimized to detect more subtle differences in face-processing ability. Using these new stimuli, two preliminary experiments were conducted to evaluate different aspects of facial identity recognition, emotion recognition, and non-face object discrimination. Results suggest that these five different tasks successfully avoided floor and ceiling effects in a healthy sample. A second experiment found that dynamic versions of the emotional stimuli were recognized more accurately than static versions, both for labeling, and discrimination paradigms. This indicates that, like previous emotion-only stimuli sets, the use of dynamic stimuli confers an advantage over image-based stimuli. These stimuli therefore provide a useful resource for researchers looking to investigate both emotional and non-emotional face-processing using dynamic stimuli. Moreover, these stimuli vary across crucial dimensions (i.e., face similarity and intensity of emotion) which allows researchers to modify task difficulty as required.

Are patients with schizophrenia impaired in processing non-emotional features of human faces?

It is known that individuals with schizophrenia exhibit signs of impaired face processing, however, the exact perceptual and cognitive mechanisms underlying these deficits are yet to be elucidated. One possible source of confusion in the current literature is the methodological and conceptual inconsistencies that can arise from the varied treatment of different aspects of face processing relating to emotional and non-emotional aspects of face perception. This review aims to disentangle the literature by focusing on the performance of patients with schizophrenia in a range of tasks that required processing of non-emotional features of face stimuli (e.g., identity or gender). We also consider the performance of patients on non-face stimuli that share common elements such as familiarity (e.g., cars) and social relevance (e.g., gait). We conclude by exploring whether observed deficits are best considered as "face-specific" and note that further investigation is required to properly assess the potential contribution of more generalized attentional or perceptual impairments.

Importance of the inverted control in measuring holistic face processing with the composite effect and part-whole effect.

Holistic coding for faces is shown in several illusions that demonstrate integration of the percept across the entire face. The illusions occur upright but, crucially, not inverted. Converting the illusions into experimental tasks that measure their strength - and thus index degree of holistic coding - is often considered straightforward yet in fact relies on a hidden assumption, namely that there is no contribution to the experimental measure from secondary cognitive factors. For the composite effect, a relevant secondary factor is size of the "spotlight" of visuospatial attention. The composite task assumes this spotlight can be easily restricted to the target half (e.g., top-half) of the compound face stimulus. Yet, if this assumption were not true then a large spotlight, in the absence of holistic perception, could produce a false composite effect, present even for inverted faces and contributing partially to the score for upright faces. We review evidence that various factors can influence spotlight size: race/culture (Asians often prefer a more global distribution of attention than Caucasians); sex (females can be more global); appearance of the join or gap between face halves; and location of the eyes, which typically attract attention. Results from five experiments then show inverted faces can sometimes produce large false composite effects, and imply that whether this happens or not depends on complex interactions between causal factors. We also report, for both identity and expression, that only top-half face targets (containing eyes) produce valid composite measures. A sixth experiment demonstrates an example of a false inverted part-whole effect, where encoding-specificity is the secondary cognitive factor. We conclude the inverted face control should be tested in all composite and part-whole studies, and an effect for upright faces should be interpreted as a pure measure of holistic processing only when the experimental design produces no effect inverted.

Face recognition impairments despite normal holistic processing and face space coding: evidence from a case of developmental prosopagnosia.

Holistic processing and face space coding are widely considered primary perceptual mechanisms behind good face recognition. Here, however, we present the case of S.P., a developmental prosopagnosic who demonstrated severe impairments in face memory and face perception, yet showed normal holistic processing and face space coding. Across three composite experiments, S.P. showed normal-strength holistic processing for upright faces and no composite effect for inverted faces. Across five aftereffect experiments, S.P. showed normal-sized face aftereffects, which derived normally from face space rather than shape-generic mechanisms. The case of S.P. implies: (a) normal holistic processing and face space coding can be insufficient for good face recognition even when present in combination; and (b) the focus of recent literature on holistic processing and face space should be expanded to include other potential face processing mechanisms (e.g., part-based processing). Our article also highlights the importance of internal task reliability in drawing inferences from single-case studies.