Typically Developing Participants Research Articles

Impact of Contralateral Hemiplegia on Lower Limb Joint Kinematics and Dynamics: A Musculoskeletal Modeling Approach

This study investigates the biomechanical differences between typically developed (TD) individuals and those with contralateral hemiplegia (CH) using musculoskeletal modeling in OpenSim. Ten TD participants and ten CH patients were analyzed for joint angles and external joint moments around the three anatomical axes: frontal, sagittal, and transverse. The analysis focused on hip, pelvis, lumbar, knee, ankle, and subtalar joint movements, leveraging MRI-derived bone length data and gait analysis. Significant differences (p < 0.05) were observed in hip flexion, pelvis tilt, lumbar extension, and ankle joint angles, highlighting the impact of hemiplegia on these specific joints. However, parameters like hip adduction and rotation, knee moment, and subtalar joint dynamics did not show significant differences, with p > 0.05. The comparison of joint angle and joint moment correlations between TD and CH participants highlights diverse coordination patterns in CH. Joint angles show significant shifts, such as HF and LR (−0.35 to −0.97) and PR and LR (0.22 to −0.78), reflecting disrupted interactions, while others like HR and LR (0.42 to 0.75) exhibit stronger coupling in CH individuals. Joint moments remain mostly stable, with HF and HA (0.54 to 0.53) and PR and LR (−0.51 to −0.50) showing negligible changes. However, some moments, like KA and HF (0.11 to −0.13) and PT and KA (0.75 to 0.67), reveal weakened or altered relationships. These findings underscore biomechanical adaptations and compensatory strategies in CH patients, affecting joint coordination. Overall, CH individuals exhibit stronger negative correlations, reflecting impaired coordination. These findings provide insight into the musculoskeletal alterations in hemiplegic patients, potentially guiding the development of targeted rehabilitation strategies.

Movement Coordination's Link with Common Ground During Dyadic Peer Discourse in Typically Developing and Autistic Speakers.

Common ground (CG)-a pragmatic capability that reflects the construction of shared meaning by two interlocutors during conversation-is widely accepted as crucial for effective communication, but its exploration has been limited in the context of children's peer-to-peer interaction. Specifically, this study aimed to explore CG differences between typically developing (TD) and autistic populations, CG's developmental trajectories, as well as the link between CG and motor coordination skills during peer interactions. Study participants included 148 children (6-16 years), comparing 64 TD and 84 autistic children across three age levels. Fixed dyads matched on IQ, age, sex, and mother's education performed a CG tangram-card task and complementary joint action (JA) tasks to evaluate peer-to-peer movement coordination. Individual motor skills were also assessed. As expected, both autistic and TD groups showed increasing efficacy over the 6-turn CG task (fewer words and shorter duration to communicate), although autistic participants were less efficient than TD participants. Better motor skills and JA synchronization correlated with both groups' more efficient CG performance. Additionally, the indirect relationship between group (TD/autism) and CG was mediated by motor skills and JA, with age moderating the relationship between JA and CG. Specifically, better motor skills and socio-motor coordination were associated with more efficient CG creation, particularly in younger children (under 10years). These findings suggest potential novel avenues for early interventions targeting motor and language challenges in autism to enhance pragmatic abilities and peer interactions, offering insights into language development in this population.

Developmental trajectories in infants and pre-school children with Neurofibromatosis 1

BackgroundChildren with Neurofibromatosis 1 (NF1) show cognitive, behavioural and social differences compared to their peers. However, the age and sequence at which these differences begin to emerge is not fully understood. This prospective cohort study examines the cognitive, behavioural, ADHD trait and autism symptom development in infant and pre-school children with NF1 compared with typically developing (TD) children without a family history of neurodevelopmental conditions.MethodsData from standardised tests was gathered at 5, 10, 14, 24 and 36 months of age (NF1 n = 35, TD n = 29). Developmental trajectories of cognitive (Mullen Scales of Early Learning, MSEL) and adaptive behavioural (Vineland Adaptive Behavior Scales, VABS) development from 5 to 36 months were analysed using linear mixed modelling. Measures of ADHD (Child Behavior Checklist) and autism traits (ADOS-2, BOSA-MV and ADI-R) were assessed at 24 and 36 months.ResultsThe developmental trajectory of cognitive skills (all domains of the MSEL) and behavioural skills (four domains of the VABS) differed significantly between NF1 and TD groups. Post-hoc tests demonstrated that the NF1 participants scored significantly lower than TD participants at 24 months on all MSEL and VABS domains. The NF1 cohort demonstrated higher mean autism and ADHD traits at 24 months and 14% of the NF1 cohort met a research diagnostic classification for autism at 36 months.LimitationsThe study has a relatively small sample size due to variable retention and rolling recruitment. Due to limitations imposed by the COVID-19 pandemic, we utilised the Brief Observation of Symptoms of Autism for Minimally Verbal children (BOSA-MV) for some participants, which was administered online and may not gather as accurate a picture of traits as ADOS-2. The BOSA-MV was utilised for 41% of participants with NF1 at 36 months compared to 11% at 24 months. This may explain the reduction in the percentage of children with NF1 that met autism criteria at 36 months.ConclusionsBy 24 months of age, the NF1 cohort show lower cognitive skills and adaptive behaviour and higher levels of autism and ADHD traits as compared to TD children. This has implications for developmental monitoring and referral for early interventions.Trial registrationNot applicable.

Aberrant Flexibility of Dynamic Brain Network in Patients with Autism Spectrum Disorder.

Autism spectrum disorder (ASD) is a collection of neurodevelopmental disorders whose pathobiology remains elusive. This study aimed to investigate the possible neural mechanisms underlying ASD using a dynamic brain network model and a relatively large-sample, multi-site dataset. Resting-state functional magnetic resonance imaging data were acquired from 208 ASD patients and 227 typical development (TD) controls, who were drawn from the multi-site Autism Brain Imaging Data Exchange (ABIDE) database. Brain network flexibilities were estimated and compared between the ASD and TD groups at both global and local levels, after adjusting for sex, age, head motion, and site effects. The results revealed significantly increased brain network flexibilities (indicating a decreased stability) at the global level, as well as at the local level within the default mode and sensorimotor areas in ASD patients than TD participants. Additionally, significant ASD-related decreases in flexibilities were also observed in several occipital regions at the nodal level. Most of these changes were significantly correlated with the Autism Diagnostic Observation Schedule (ADOS) total score in the entire sample. These results suggested that ASD is characterized by significant changes in temporal stabilities of the functional brain network, which can further strengthen our understanding of the pathobiology of ASD.

Statistical Learning Among Preschoolers With and Without Developmental Language Disorder: Examining Effects of Language Status, Age, and Prior Learning.

Our goal was to compare statistical learning abilities between preschoolers with developmental language disorder (DLD) and peers with typical development (TD) by assessing their learning of two artificial grammars. Four- and 5-year-olds with and without DLD were compared on their statistical learning ability using two artificial grammars. After learning an aX grammar, participants learned a relatively more complex abX grammar with a nonadjacent relationship between a and X. Participants were tested on their generalization of the grammatical pattern to new sequences with novel X elements that conformed to (aX, abX) or violated (Xa, baX) the grammars. Results revealed an interaction between age and language group. Four-year-olds with and without DLD performed equivalently on the aX and abX grammar tests, and neither of the 4-year-old groups' accuracy scores exceeded chance. In contrast, among 5-year-olds, TD participants scored significantly higher on aX tests compared to participants with DLD, but the groups' abX scores did not differ. Five-year-old participants with DLD did not exceed chance on any test, whereas 5-year-old TD participants' scores exceeded chance on all grammar learning outcomes. Regression analyses indicated that aX performance positively predicted learning outcomes on the subsequent abX grammar for TD participants. These results indicate that preschool-age participants with DLD show deficits relative to typical peers in statistical learning, but group differences vary with participant age and type of grammatical structure being tested. https://doi.org/10.23641/asha.26487376.

Resolving autism spectrum disorder (ASD) through brain topologies using fMRI dataset with multi-layer perceptron (MLP)

Autism is a neurodevelopmental disorder that manifests in individuals during childhood and has enduring consequences for their social interactions and communication. The prediction of Autism Spectrum Disorder (ASD) in individuals based on the differences in brain networks and activities have been studied extensively in the recent past, however, with lower accuracies. Therefore in this research, identification at the early stage through computer-aided algorithms to differentiate between ASD and TD patients is proposed. In order to identify features, a Multi-Layer Perceptron (MLP) model is developed which utilizes logistic regression on characteristics extracted from connectivity matrices of subjects derived from fMRI images. The features that significantly contribute to the classification of individuals as having Autism Spectrum Disorder (ASD) or typically developing (TD) are identified by the logistic regression model. To enhance emphasis on essential attributes, an AND operation is integrated. This involves selecting features demonstrating statistical significance across diverse logistic regression analyses conducted on various random distributions. The iterative approach contributes to a comprehensive understanding of relevant features for accurate classification. By implementing this methodology, the estimation of feature importance became more dependable, and the potential for overfitting is moderated through the evaluation of model performance on various subsets of data. It is observed from the experimentation that the highly correlated Left Lateral Occipital Cortex and Right Lateral Occipital Cortex ROIs are only found in ASD. Also, it is noticed that the highly correlated Left Cerebellum Tonsil and Right Cerebellum Tonsil are only found in TD participants. Among the MLP classifier, a recall of 82.61 % is achieved followed by Logistic Regression with an accuracy of 72.46 %. MLP also stands out with a commendable accuracy of 83.57 % and AUC of 0.978.

Testing the Continuum/Spectrum Model in Russian-Speaking Children With and Without Developmental Language Disorder.

Previously, Lancaster and Camarata (2019) showed that the continuum/spectrum model of the developmental language disorder (DLD) best explained the high heterogeneity of symptoms in children with DLD. We hypothesize that the continuum/spectrum approach can include not only children with DLD but also typically developing (TD) children with different timelines and patterns of language acquisition. This model can explain individual language profiles and deficits in children. We assessed language abilities in a group of Russian-speaking children with DLD aged 4-7 years (n = 53) and their age- and gender-matched peers without speech and language diagnoses (n = 53, TD). We evaluated the children's performance at four language levels in production and comprehension domains, using 11 subtests of the standardized language assessment for Russian: Russian Child Language Assessment Battery (RuCLAB). Using the k-means cluster method and RuCLAB scores, we obtained two clusters of children and analyzed their language performance in individual subtests. The analysis revealed that the two clusters of children both included DLD and TD participants: Group 1, with higher test scores (TD = 45, DLD = 24 children), and Group 2, with lower scores (TD = 8, DLD = 29). Children from Group 1 mostly had lower scores at one of the language levels, whereas those from Group 2 struggled at several language levels. Furthermore, children with DLD from both groups tended to be more sensitive to linguistic features such as word length, noun case, and sentence reversibility compared to TD children. The presence of two mixed groups shows that children with diagnosed DLD could perform on par with TD children, whereas some younger TD children could perform similarly to children with DLD. Our findings support the continuum/spectrum model: Linguistic skills in preschool children are a continuum, varying from high to poor skills at all language levels in comprehension and production. To describe a child's language profile, the tasks assessing all language levels should be used. https://doi.org/10.23641/asha.25521400.

Unique Patterns of Eye Movements Characterizing Inattentive Reading in ADHD.

We aimed to identify unique patterns of eye-movements measures reflecting inattentive reading among adults with and without ADHD. We recorded eye-movements during uninterrupted text reading of typically developed (TD) and ADHD adults. First, we found significantly longer reading time for the ADHD group than the TD group. Further, we detected cases in which words were reread more than twice and found that such occasions were much more frequent in participants with ADHD than in TD participants. Moreover, we discovered that the first reading pass of these words was less sensitive to the length of the word than the first pass of words read only once, indicating a less meaningful reading. We propose that high rate of words that were reread is a correlate of inattentive reading which is more pronounced among ADHD readers. Implications of the findings in the context of reading comprehension are discussed.

Unconscious and Conscious Gaze-Triggered Attentional Orienting: Distinguishing Innate and Acquired Components of Social Attention in Children and Adults with Autistic Traits and Autism Spectrum Disorders.

Typically developing (TD) individuals can readily orient attention according to others' eye-gaze direction, an ability known as social attention, which involves both innate and acquired components. To distinguish between these two components, we used a critical flicker fusion technique to render gaze cues invisible to participants, thereby largely reducing influences from consciously acquired strategies. Results revealed that both visible and invisible gaze cues could trigger attentional orienting in TD adults (aged 20 to 30 years) and children (aged 6 to 12 years). Intriguingly, only the ability to involuntarily respond to invisible gaze cues was negatively correlated with autistic traits among all TD participants. This ability was substantially impaired in adults with autism spectrum disorder (ASD) and in children with high autistic traits. No such association or reduction was observed with visible gaze cues. These findings provide compelling evidence for the functional demarcation of conscious and unconscious gaze-triggered attentional orienting that emerges early in life and develops into adulthood, shedding new light on the differentiation of the innate and acquired aspects of social attention. Moreover, they contribute to a comprehensive understanding of social endophenotypes of ASD.

Dynamic Assessment of Narrative Skills for Identifying Developmental Language Disorder in Monolingual and Bilingual French-Speaking Children.

Purpose: Typically developing (TD) bilingual children usually produce narratives with preserved macrostructure (i.e., narrative scheme) but with impaired microstructure (i.e., language complexity). As for monolingual and bilingual children with developmental language disorder (DLD), they usually produce narratives with both impaired macro- and microstructure. It is therefore difficult to differentiate TD from DLD, on the basis of narrative production, especially in bilingual children. In this study, we examine whether a dynamic assessment (DA) task of narratives, using a pretest–teaching–posttest design, can differentiate TD from DLD, without disadvantaging bilinguals over monolinguals. Method: We recruited 118 French-speaking children ( M age = 8;5 [years;months]), with one experimental condition in which children benefited from a teaching phase (30 TD, 18 monolinguals and 12 bilinguals; 30 DLD, 15 monolinguals and 15 bilinguals) and one control condition (58 TD, 31 monolinguals and 27 bilinguals), in which children participated in another activity. In the pre- and posttest, children were asked to tell a story based on a series of pictures. During the teaching phase, an examiner asked children 12 specific questions about the story, targeting macro- and microstructural elements. Scores were attributed to the number of macro- and microstructural elements correctly produced and to the number of specific trained elements (TE) that were produced as a result of training. Results: Scores improved on macrostructure and on the number of TE following teaching for all groups of the experimental condition (TD and DLD), whereas there was no progress in children of the control condition. TD participants and participants with DLD differed on all measures in both pre- and posttest, with no differences between monolinguals and bilinguals. Conclusions: Our dynamic task led to both improved narrative skills and TD/DLD differentiation, with bilinguals not being disadvantaged. Our study thus supports the existing literature indicating that DA can be used to diagnose narrative deficits in children with DLD.

Reduced grey matter volume in adolescents with conduct disorder: a region-of-interest analysis using multivariate generalized linear modeling

BackgroundConduct disorder (CD) involves a group of behavioral and emotional problems that usually begins during childhood or adolescence. Structural brain alterations have been observed in CD, including the amygdala, insula, ventrolateral and medial prefrontal cortex, anterior cingulate cortex, and fusiform gyrus. The current study developed a multivariate generalized linear model (GLM) to differentiate adolescents with CD from typically developing (TD) adolescents in terms of grey matter volume (GMV).MethodsThe whole‐brain structural MRI data were collected from 96 adolescents with CD (mean age = 16.188pm 1.259 years; mean IQ = 104.292pm 8.107; 63 males) and 90 TD individuals (mean age = 15.956pm 1.506 years; mean IQ = 106.622pm 9.076; 59 males) matched on age, IQ, and sex. Region-wise GMV was extracted following whole-brain parcellation into 68 cortical and 14 subcortical regions for each participant. A multivariate GLM was developed to predict the GMV of the pre-hypothesized regions-of-interest (ROIs) based on CD diagnosis, with intracranial volume, age, sex, and IQ serving as the covariate.ResultsA diagnosis of CD was a significant predictor for GMV in the right pars orbitalis, right insula, right superior temporal gyrus, left fusiform gyrus, and left amygdala (F(1, 180) = 5.460–10.317, p < 0.05, partial eta squared = 0.029–0.054). The CD participants had smaller GMV in these regions than the TD participants (MCD–MTD = [− 614.898] mm3–[− 53.461] mm3).ConclusionsAltered GMV within specific regions may serve as a biomarker for the development of CD in adolescents. Clinical work can potentially target these biomarkers to treat adolescents with CD.

40 Metamemory performance of children with ADHD in comparison to typically developing children.

Objective:Metamemory is an aspect of metacognition that is one's knowledge of memory and understanding of their own memory performance (Kreutzer et al., 1975). Executive function skills are foundational skills required for the development of metamemory in early school-age children (Lockl &amp; Schneider, 2007; Lecce et al., 2015). Previous studies have suggested children with Attention-Deficit/Hyperactivity Disorder (ADHD) may have weaker study and organizational strategies, suggesting weaker metamemory skills (O'Neill &amp; Douglas, 1991; Voelker et al., 1989). The current study aimed to examine the metamemory knowledge of typically developing (TD) children and children with ADHD on a novel declarative metamemory questionnaire. We hypothesized that the ADHD group would have worse metamemory performance than the TD group and that executive functioning skills would be significantly associated with metamemory for all groups.Participants and Methods:The current study recruited a total of 93 English-speaking children between the ages of 6 to 12 years old, including 70 typically developing (TD) children (M age=9.1+1.92; females 49%), and 23 children with diagnoses of ADHD (M age=9.56+1.27; females 57%). Fifty-seven percent of the ADHD group reported daily use of stimulant medication, but no participants took medication on the day of testing. The participant groups did not significantly differ regarding age or sex. Participants completed the Measure of Metamemory (MoM-10) which included 10 multiple choice questions (i.e., Accuracy) and asked participants to explain their multiple-choice answer (i.e., Explanation). This provided three scores: Accuracy (max 10 points), Explanation (max 20 points), and Total (max 30 points). Additionally, participants' parents completed the 12-item Behavior Rating Inventory of Executive Function, 2nd Edition (BRIEF-2) Screening form, evaluating the child's executive functioning, which provided a percentile based on age and sex.Results:Within the ADHD group, BRIEF-2 percentiles and MoM-10 scores did not differ between those who were medicated and those who were not. As previous literature has shown, the TD and ADHD groups significantly differed on the BRIEF-2 screening score percentiles (t(91)=-5.78, p&lt;0.001; TD M=52.89+26.1; ADHD M=85.26+13.82). The TD and ADHD groups did not significantly differ on either the MoM-10 Accuracy (p=0.13; TD M=7.22+1.84; ADHD M=7.87+1.32), the Explanation (p=0.08; TD M=9.34+3.80; ADHD M=10.57+2.92), or Total (p=0.13). There was a trend towards a significant correlation between the Explanation scores and BRIEF-2 for TD participants (r=-0.23, p=0.06), but there was no significant correlation between Explanation, Accuracy, or Total scores and the BRIEF-2 for the ADHD group.Conclusions:Our results tentatively suggest a possible association between metamemory and parent reported executive functioning for TD children, supporting the expected association between the development of executive functioning and the development of metamemory. However, there was no association between metamemory and executive functioning for children with ADHD, likely due to the restricted range of executive functioning scores for this group (i.e., M=85.25+13.82; Range 55-99). Additionally, metamemory did not significantly differ between diagnostic groups. Children with ADHD may have comparable metamemory knowledge to TD children as a result of executive functioning instruction and support they have received. Rather, there may be group differences in the application of metamemory judgement and strategies.

Exploring Executive Functioning of Adults With Probable Developmental Coordination Disorder Using the Jansari Assessment of Executive Functions

ABSTRACT Many individuals with Developmental Coordination Disorder (DCD) demonstrate executive functioning difficulties on standardized assessments, yet these difficulties have not been investigated using ecologically-valid measures. 26 adults with probable DCD (pDCD), and 26 typically developing (TD) adults completed selected background measures and the Jansari assessment of Executive Functions (JEF©). JEF© is an ecologically-valid measure that provides measures of Planning, Prioritization, Selective-Thinking, Creative-Thinking, Adaptive-Thinking, and Action-, Event- and Time-Based Prospective Memory. pDCD participants were impaired relative to TD participants, with difficulties in Planning, Action-, and Event-Based Prospective Memory. These findings are consistent with self-reported difficulty and provide avenues for research investigating intervention.

Different levels of visuospatial abilities linked to differential brain correlates underlying visual mental segmentation processes in autism.

The neural underpinnings of enhanced locally oriented visual processing that are specific to autistics with a Wechsler's Block Design (BD) peak are largely unknown. Here, we investigated the brain correlates underlying visual segmentation associated with the well-established autistic superior visuospatial abilities in distinct subgroups using functional magnetic resonance imaging. This study included 31 male autistic adults (15 with (AUTp) and 16 without (AUTnp) a BD peak) and 28 male adults with typical development (TYP). Participants completed a computerized adapted BD task with models having low and high perceptual cohesiveness (PC). Despite similar behavioral performances, AUTp and AUTnp showed generally higher occipital activation compared with TYP participants. Compared with both AUTnp and TYP participants, the AUTp group showed enhanced task-related functional connectivity within posterior visuoperceptual regions and decreased functional connectivity between frontal and occipital-temporal regions. A diminished modulation in frontal and parietal regions in response to increased PC was also found in AUTp participants, suggesting heavier reliance on low-level processing of global figures. This study demonstrates that enhanced visual functioning is specific to a cognitive phenotypic subgroup of autistics with superior visuospatial abilities and reinforces the need to address autistic heterogeneity by good cognitive characterization of samples in future studies.

0789 Sleep Spindle Density is Associated with Core Symptom Severity in Autism Spectrum Disorder

Abstract Introduction Converging evidence suggests that dysregulation of thalamocortical interactions, mediated by the thalamic reticular nucleus (TRN), contributes to the expression of autism spectrum disorder (ASD). Risk genes for ASD have been found to affect the TRN early in development. Two hallmarks of NREM sleep –slow oscillations (SO) and sleep spindles– reflect TRN function and distinct thalamic/thalamocortical circuits. While studies demonstrate disrupted sleep quality that correlates with symptoms in children with ASD, studies of spindles in ASD have produced inconsistent findings. It is yet unclear if and how spindle properties are associated with ASD symptoms. Herein, based on studies implicating TRN-mediated thalamocortical dysregulation in ASD, we hypothesized that 1) sleep spindles are reduced in ASD; 2) spindle abnormalities correlate with worse clinical symptoms and cognition. Methods Forty participants with ASD (32 males, age: 11.8 ± 3.2; range 6-15) and 46 typically developing (TD) controls (32 males, age: 11.2 ± 2.3; range 6-15) participated in the study. All participants underwent ambulatory overnight polysomnography (PSG) for sleep assessment after systematic desensitization. The Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview-Revised (ADI-R) were used to assess core behavioral symptoms. Results Spindle density was significantly lower in ASD compared to TD participants (ASD: 2.5 ± 2.0; TD: 3.0 ± 2.1; d= 0.45, p=0.01). In the ASD group, less spindle density was associated with more severe behavioral symptoms, as measured by the total ADOS score (R2=0.15, p=0.01) and the three main subscales of the ADI-R (reciprocal social interaction: R2=0.22, p=0.002; communication and language: R2=0.19, p=0.003; and restricted and repetitive, stereotyped interests and behaviors: R2=0.14, p=0.01). Conclusion Alterations in the maturational trajectory of spindles are related to the core symptoms of ASD individuals. The results have the potential to identify novel biomarkers that index distinct aspects of ASD pathophysiology and point to multiple neural mechanisms underlying disease heterogeneity. The study may contribute to producing novel evidence to elucidate the bidirectional relationship between sleep and ASD. Support (if any) Simons Foundation Autism Research Initiative grant (177986).

Comparison of evoked potentials across four related developmental encephalopathies

BackgroundDeveloping biomarkers is a priority for drug development for all conditions, but vital in the rare neurodevelopmental disorders where sensitive outcome measures are lacking. We have previously demonstrated the feasibility and tracking of evoked potentials to disease severity in Rett syndrome and CDKL5 deficiency disorder. The aim of the current study is to characterize evoked potentials in two related developmental encephalopathies, MECP2 duplication syndrome and FOXG1 syndrome, and compare across all four groups to better understand the potential of these measures to serve as biomarkers of clinical severity for the developmental encephalopathies.MethodsVisual and auditory evoked potentials were acquired from participants with MECP2 duplication syndrome and FOXG1 syndrome across five sites of the Rett Syndrome and Rett-Related Disorders Natural History Study. A group of age-matched individuals (mean = 7.8 years; range = 1–17) with Rett syndrome, CDKL5 deficiency disorder, and typically-developing participants served as a comparison group. The analysis focused on group-level differences as well as associations between the evoked potentials and measures of clinical severity from the Natural History Study.ResultsAs reported previously, group-level comparisons revealed attenuated visual evoked potentials (VEPs) in participants with Rett syndrome (n = 43) and CDKL5 deficiency disorder (n = 16) compared to typically-developing participants. VEP amplitude was also attenuated in participants with MECP2 duplication syndrome (n = 15) compared to the typically-developing group. VEP amplitude correlated with clinical severity for Rett syndrome and FOXG1 syndrome (n = 5). Auditory evoked potential (AEP) amplitude did not differ between groups, but AEP latency was prolonged in individuals with MECP2 duplication syndrome (n = 14) and FOXG1 syndrome (n = 6) compared to individuals with Rett syndrome (n = 51) and CDKL5 deficiency disorder (n = 14). AEP amplitude correlated with severity in Rett syndrome and CDKL5 deficiency disorder. AEP latency correlated with severity in CDKL5 deficiency disorder, MECP2 duplication syndrome, and FOXG1 syndrome.ConclusionsThere are consistent abnormalities in the evoked potentials in four developmental encephalopathies some of which correlate with clinical severity. While there are consistent changes amongst these four disorders, there are also condition specific findings that need to be further refined and validated. Overall, these results provide a foundation for further refinement of these measures for use in future clinical trials for these conditions.

Asynchronous neural oscillations associated with subliminal affective face priming in autism spectrum disorder.

Autism spectrum disorder (ASD) is characterized by social communicative disturbance. Social communication requires rapid processing and accurate cognition regarding others' emotional expressions. Previous electrophysiological studies have attempted to elucidate the processes underlying atypical face-specific N170 responses to emotional faces in ASD. The present study explored subliminal affective priming effects (SAPEs) on the N170 response and time-frequency analysis of intertrial phase coherence (ITPC) for the N170 in ASD. Fifteen participants [seven participants with ASD and eight typically developing (TD) controls] were recruited for the experiment. Event-related potentials were recorded with a 128-channel electroencephalography device while participants performed an emotional face judgment task. The results revealed enhanced N170 amplitude for supraliminal target-face stimuli when they were preceded by subliminal fearful-face stimuli, in both the ASD and TD groups. Interestingly, TD participants exhibited higher alpha-ITPC in the subliminal fearful-face priming condition in the right face-specific area in the N170 time window. In contrast, there were no significant differences in ITPC in any frequency bands between the subliminal fearful and neutral priming conditions in the ASD group. Asynchronous phase-locking neural activities in the face-specific area may underlie impaired nonconscious face processing in ASD, despite the presence of common features of SAPEs for the N170 component in both the ASD and TD groups.

Temporal processing deficit in children and adolescents with autism spectrum disorder: An online assessment.

The sensory deficit has been considered as one of the core features in children and adolescents with autism spectrum disorder (ASD). The present study aimed to examine the temporal processing of simple and more complex auditory inputs in ASD children and adolescents with an online assessment that can be conducted remotely. One hundred fifty-eight children and adolescents aged 5-17 years participated in this study, including 79 ASD participants and 79 typically developing (TD) participants. The online assessment consisted of two temporal-order judgment tasks that required repeating the sequence of two pure tones or consonant-vowel (CV) syllabic pairs at varying interstimulus intervals (ISIs). Significantly lower accuracy rates were found in ASD than TD participants in the pure tone and the CV conditions with both short and long ISI. In addition, ASD participants (M = 245.97 ms) showed a significantly higher passing threshold than TD participants (M = 178.84 ms) in the CV task. Receiver operating characteristic analysis found that the age × ISI passing threshold composite yielded a sensitivity of 74.7% and a specificity of 50.6% at the cutoff point of -0.307 in differentiating ASD participants from TD participants. In sum, children and adolescents with ASD showed impaired temporal processing of both simple and more complex auditory stimuli, and the online assessment seems to be sensitive in differentiating individuals with ASD from those with TD.

Extracellular vesicle characteristics and microRNA content in cerebral palsy and typically developed individuals at rest and in response to aerobic exercise.

In this study, the properties of circulating extracellular vesicles (EVs) were examined in cerebral palsy (CP) and typically developed (TD) individuals at rest and after aerobic exercise, focusing on the size, concentration, and microRNA cargo of EVs. Nine adult individuals with CP performed a single exercise bout consisting of 45min of Frame Running, and TD participants completed either 45min of cycling (n = 10; TD EX) or were enrolled as controls with no exercise (n = 10; TD CON). Blood was drawn before and 30min after exercise and analyzed for EV concentration, size, and microRNA content. The size of EVs was similar in CP vs. TD, and exercise had no effect. Individuals with CP had an overall lower concentration (∼25%, p < 0.05) of EVs. At baseline, let-7a, let-7b and let-7e were downregulated in individuals with CP compared to TD (p < 0.05), while miR-100 expression was higher, and miR-877 and miR-4433 lower in CP compared to TD after exercise (p < 0.05). Interestingly, miR-486 was upregulated ∼2-fold in the EVs of CP vs. TD both at baseline and after exercise. We then performed an in silico analysis of miR-486 targets and identified the satellite cell stemness factor Pax7 as a target of miR-486. C2C12 myoblasts were cultured with a miR-486 mimetic and RNA-sequencing was performed. Gene enrichment analysis revealed that several genes involved in sarcomerogenesis and extracellular matrix (ECM) were downregulated. Our data suggest that circulating miR-486 transported by EVs is elevated in individuals with CP and that miR-486 alters the transcriptome of myoblasts affecting both ECM- and sarcomerogenesis-related genes, providing a link to the skeletal muscle alterations observed in individuals with CP.

The effect of background sounds on mind wandering.

Mind wandering (MW) reflects a situation in which the cognitive system is detached from the main task and involved with inner thoughts. It has been well document that music and other background sounds can have positive effects on number of cognitive functioning. In addition, other body of literature suggests that background sounds might have specifically positive effect on individuals with more attention deficiencies. Hence, the current study examines the effect of background sounds on MW. In two experiments, the effect of background sounds: music (Experiment 1) or an alerting tone (Experiment 2) while performing sustained attention tasks was examined among typical development participants with different severity of attention deficiency. Background sounds were found to reduce MW especially in individuals with more ADHD symptoms. This was further discussed in the context of several theories, and it was suggested that background sound might be used as a tool for MW reduction.