TD Children Research Articles

Enhanced ADHD classification through deep learning and dynamic resting state fMRI analysis.

Attention Deficit Hyperactivity Disorder (ADHD) is characterized by deficits in attention, hyperactivity, and/or impulsivity. Resting-state functional connectivity analysis has emerged as a promising approach for ADHD classification using resting-state functional magnetic resonance imaging (rs-fMRI), although with limited accuracy. Recent studies have highlighted dynamic changes in functional connectivity patterns among ADHD children. In this study, we introduce Skip-Vote-Net, a novel deep learning-based network designed for classifying ADHD from typically developing children (TDC) by leveraging dynamic connectivity analysis on rs-fMRI data collected from 222 participants included in the NYU dataset within the ADHD-200 database. Initially, for each subject, functional connectivity matrices were constructed from overlapping segments using Pearson's correlation between mean time series of 116 regions of interest defined by the Automated Anatomical Labeling (AAL) 116 atlas. Skip-Vote-Net was then developed, employing a majority voting mechanism to classify ADHD/TDC children, as well as distinguishing between the two main subtypes: the inattentive subtype (ADHDI) and the predominantly combined subtype (ADHDC). The proposed method was evaluated across four classification scenarios: (1) two-class classification of ADHD from TD children using balanced data, (2) two-class classification between ADHD and TD children using unbalanced data, (3) two-class classification between ADHDI and ADHDC, and (4) three-class classification among ADHDI, ADHDC, and TD children. Using Skip-Vote-Net, we achieved mean classification accuracies of 97% ± 1.87 and 97.7% ± 2.2 for the balanced and unbalanced classification cases, respectively. Furthermore, the mean classification accuracy for discriminating between ADHDI and ADHDC reached 99.4% ± 1.21. Finally, the proposed method demonstrated an average accuracy of 98.86% ± 1.03 in classifying ADHDI, ADHDC, and TD children collectively. Our findings highlight the superior performance of Skip-Vote-Net over existing methods in the classification of ADHD, showcasing its potential as an effective diagnostic tool for identifying ADHD subtypes and distinguishing ADHD from typically developing children.

Multimodal investigation of dynamic brain network alterations in autism spectrum disorder: Linking connectivity dynamics to symptoms and developmental trajectories

BackgroundAutism spectrum disorder (ASD) has been associated with disrupted brain connectivity, yet a comprehensive understanding of the dynamic neural underpinnings remains lacking. This study employed concurrent electroencephalography (EEG) and functional near-infrared spectroscopy (fNIRS) techniques to investigate dynamic functional connectivity (dFC) patterns and neurovascular characteristics in children with ASD. We also explored associations between neurovascular characteristics and the developmental trajectory of adaptive behavior in individuals with ASD. MethodsResting-state EEG and fNIRS data were simultaneously recorded from 58 ASD and 63 TD children. We implemented a k-means clustering approach to extract the dFC states for each modality. In addition, a multimodal covariance network (MCN) was constructed from the EEG and fNIRS dFC features to capture the neurovascular characteristics linked to ASD. ResultsEEG analyses revealed atypical properties of dFC states in the beta and gamma bands in children with ASD compared to TD children. For fNIRS, the ASD group exhibited atypical properties of dFC states such as duration and transitions relative to the TD group. The MCN analysis revealed significantly suppressed functional covariance between right superior temporal and left Broca's areas, alongside enhanced right dorsolateral prefrontal-left Broca covariance in ASD. Notably, we found that early neurovascular characteristics can predict the developmental progress of adaptive functioning in ASD. ConclusionThe multimodal investigation revealed distinct dFC patterns and neurovascular characteristics associated with ASD, elucidating potential neural mechanisms underlying core symptoms and their developmental trajectories. Our study highlights that integrating complementary neuroimaging modalities may aid in unraveling the complex neurobiology of ASD.

Early Cues from Parent-Child Interaction: Comparisons Among Young Children Diagnosed with Autism Spectrum Disorder and Developmental Language Disorder and Children not Diagnosed with a Disability.

Over the past ten years, there has been a significant improvement in the sensibility and specificity of the earlier diagnosis of ASD. However, parenting traits were relatively explored among children with different disabilities. We aimed to clarify the characteristics of parent-child interaction among children with ASD and DLD, compared with children not diagnosed with a disability. The study recruited 280 children aged 1.5-3.9 years (30 children with ASD, 48 children with DLD, and 202 TD children) and their primary caregivers. Parent-child interaction was measured based on video recordings and observation. One-way ANOVA was used for the comparison of IRS-C scores among the three groups, and the t-test was used for pairwise comparisons; effect size was also calculated. Children's age and sex were further considered as grouping category in our analyses. All comparison models were adjusted by demographic background (i.e. child age and sex, sibling, main caregiver, mother education, and family annual income). Children with ASD showed the lowest level of general social competence compared to children with DLD (d = 1.298, P < 0.001) and TD group (d = 1.833, P < 0.001). Children with DLD showed less responsiveness (d = 0.780, P < 0.001) and less empathy (d = 0.706, P < 0.001) than TD children. Caregivers of children with ASD also showed the lowest level of parenting attributes relative to caregivers of children with DLD (d = 0.978, P < 0.001) and caregivers of TD children (d = 0.860, P < 0.001). The child- and parent-related traits also varied by child age and sex. We posit that parent-child interaction necessitates greater attention with respect to early screening and identification.

Exploration of the triceps surae muscle in ambulatory children with cerebral palsy using instrumented measurements of stiffness and diffusion tensor magnetic resonance imaging for muscle architecture

BackgroundMusculoskeletal alterations causing reduced range of motion of the ankle joint are common in children with cerebral palsy (CP). Objective measurements of passive joint resistance and three-dimensional skeletal muscle volume and muscle architecture can lead to a comprehensive understanding of which factors influence joint range of motion.Research questionTo investigate the relation between the passive dorsiflexion of the ankle joint, biomechanical contributing factors to the passive joint resistance, and muscular architectural properties of the triceps surae muscle in children with CP.MethodsIn this cross-sectional observational study, 14 children with spastic CP (bilateral: 5, unilateral: 9, Gross Motor Function Classification System (GMFCS) level I:11, II:3) naïve to intramuscular tone reducing treatment, and 14 TD children were included. The passive dorsiflexion of the ankle was measured with a goniometer. Passive joint resistance and related parameters were estimated based on a biomechanical model and measurements using a motorized device, the Neuroflexor. Three-dimensional muscle architecture was quantified with diffusion tensor magnetic resonance imaging (DT-MRI).ResultsIn the CP group, the median [min, max] passive dorsiflexion was decreased in the most affected leg (MAL) compared to the less affected leg (LAL) (2.5° [-25°, 20°] vs. 12.5° [5°, 30°], p = 0.001). The stiffness coefficient (Nm/rad) in the MAL was significantly higher in children with CP compared to TD children (7.10 [3.39, 62.00] vs. 2.82 [1.24, 10.46], p = 0.015). Muscle architecture properties did not differ between CP and TD, except for pennation angle in the medial gastrocnemius (MG) of the MAL (CP 17.64° (2.29) vs. TD 21.46° (3.20), p = 0.017). The stiffness coefficient, in the MAL, correlated negatively to passive dorsiflexion (rs=-0.638) and pennation angle in medial gastrocnemius (rs=-0.964), and the non-linear coefficient (Non-linear 1) correlated negatively to the fascicle length of the medial gastrocnemius (rs=-0.857).ConclusionThis study shows that stiffness of the plantarflexors is related to decreased passive dorsiflexion of the ankle and muscle structure of the MG in high-functioning children with spastic CP. Assessments of how dynamic components as well as microscopic muscle alterations contribute to joint stiffness in the plantarflexors in individuals with CP are warranted.Trial registrationRetrospectively registered in ClinicalTrials.gov, NCT05447299. Observational study. Study start: 2019-01-15, register date: 2022-07-01.

Physical activity and sedentary behavior among ambulatory children with cerebral palsy using accelerometer: a cross-sectional study.

Physical activity (PA) is paramount for childhood development and growth. However, children diagnosed with Cerebral Palsy (CP) were often considered sedentary, and their physical inactivity was associated with adverse health conditions and complications. Therefore, this study aimed to objectively describe and compare the PA levels and SB levels of children with and without CP of the same age group. It also studied the factors correlating with PA, SB, and step count per day in children with CP. A cross-sectional study using a wrist-worn accelerometer was conducted. PA and SB were measured over seven consecutive days. Eighty-five children aged 6-12 years, consisting of 41 children with CP and 44 TD children, participated in this study with a mean age of 9.18 ± 1.95 and 8.45 ± 1.78 years, respectively. According to the gross functional measures, 53.6% of children with CP were classified as first classification. A significant amount of time was spent in SB and Light PA (LPA) by children with CP compared to TD children, and no significant differences were observed in moderate PA (MPA) or step count. Gender mainly affected MPA as girls spent more time in MPA than boys. The age, height, and weight of children with CP correlate significantly with SB. As children's age, height, and weight increase, SB increases. Additionally, children with higher weights have lower step counts per day. This study showed that children with CP spend more time in LPA and SB than typically developed children. Therefore, concerted efforts are needed to encourage physical activity and reduce the sedentary lifestyle, to take into account the gender and anthropometric measures of children to enhance the quality of life among children with CP, and to consider gender and anthropometric measures of the children.

Short-Term and Long-Term Effects of COVID-19 and Remote Learning: Experiences of Parents Supporting Children with Mathematical Learning Disabilities in Israel

Background: Over the last three years, many studies have explored the effect of pandemic closures on learning. However, in Israel, the perspectives of parents on the short- and long-term effects of the lockdowns on students with mathematical learning disabilities (MD), have rarely been examined. Method: To fill this gap, MD (n = 33) or typically developing (n = 50) children were selected. They were in the 1st and 2nd grades during the closures, and we tested them and their surroundings, two years later. Results and Conclusions: First, according to the parent’s survey, children with MD had physical conditions similar to the TD group, the two groups had similar stable connections to the internet, computer, and a quiet environment. However, MD children (1) needed more help and (2) had a harder time concentrating during virtual math classes compared to TD children. Moreover, the coronavirus closures resulted in a greater learning gap in the MD children compared to the TD children. We found positive associations between difficulties reported by the parents and actual weakness in performances in complex multiplication and division and verbal working memory.

Postural Stability in Children with Cerebral Palsy.

Background: A lack of postural control is one of the key problems in children with cerebral palsy (CP). The goals of the present study were to assess static postural stability in children with mild CP using a force platform compared to that of typically developing peers and to identify differences in static stability between children with hemiplegic and diplegic CP. Methods: This study included 45 children with hemiplegic CP and 45 children with well-functioning diplegic CP (Gross Motor Function Classification System; GMFCS scores between I and II) who were patients of local paediatric rehabilitation centres. The testing procedure included two interrelated parts: (1) the analysis of the body weight distribution and (2) the posturometric test (the centre of pressure; CoP measurements) using the force platform. Results: The results of the present study show that children with CP, compared to their TD peers, demonstrated significantly higher values for all of the analysed indexes of postural stability. The obtained results indicate differences in disorders of static postural stability between children with hemiplegic and diplegic CP. Compared to their TD peers, children with hemiplegic CP showed greater body weight asymmetry between the affected and unaffected sides of the body and greater CoP sway in the medial-lateral direction. In contrast, children with diplegic CP exhibited greater CoP displacements in the anterior-posterior direction. Conclusions: The findings of the present study show that (1) children with CP have increased static postural instability compared to their TD peers and (2) children with diplegic CP exhibit weaker mediolateral stability in standing, whereas children with hemiplegic CP show reduced anterior-posterior stability.

Enhanced motor noise in an autism subtype with poor motor skills

BackgroundMotor difficulties are common in many, but not all, autistic individuals. These difficulties can co-occur with other problems, such as delays in language, intellectual, and adaptive functioning. Biological mechanisms underpinning such difficulties are less well understood. Poor motor skills tend to be more common in individuals carrying highly penetrant rare genetic mutations. Such mechanisms may have downstream consequences of altering neurophysiological excitation-inhibition balance and lead to enhanced behavioral motor noise.MethodsThis study combined publicly available and in-house datasets of autistic (n = 156), typically-developing (TD, n = 149), and developmental coordination disorder (DCD, n = 23) children (age 3–16 years). Autism motor subtypes were identified based on patterns of motor abilities measured from the Movement Assessment Battery for Children 2nd edition. Stability-based relative clustering validation was used to identify autism motor subtypes and evaluate generalization accuracy in held-out data. Autism motor subtypes were tested for differences in motor noise, operationalized as the degree of dissimilarity between repeated motor kinematic trajectories recorded during a simple reach-to-drop task.ResultsRelatively ‘high’ (n = 87) versus ‘low’ (n = 69) autism motor subtypes could be detected and which generalize with 89% accuracy in held-out data. The relatively ‘low’ subtype was lower in general intellectual ability and older at age of independent walking, but did not differ in age at first words or autistic traits or symptomatology. Motor noise was considerably higher in the ‘low’ subtype compared to ‘high’ (Cohen’s d = 0.77) or TD children (Cohen’s d = 0.85), but similar between autism ‘high’ and TD children (Cohen’s d = 0.08). Enhanced motor noise in the ‘low’ subtype was also most pronounced during the feedforward phase of reaching actions.LimitationsThe sample size of this work is limited. Future work in larger samples along with independent replication is important. Motor noise was measured only on one specific motor task. Thus, a more comprehensive assessment of motor noise on many other motor tasks is needed.ConclusionsAutism can be split into at least two discrete motor subtypes that are characterized by differing levels of motor noise. This suggests that autism motor subtypes may be underpinned by different biological mechanisms.

Spatial exploration and navigation in Down syndrome and Williams syndrome

We know little about the ability to explore and navigate large-scale space for people with intellectual disability (ID). In this cross-syndrome study, individuals with Down syndrome (DS), individuals with Williams syndrome (WS) and typically developing children (TD; aged 5–11 years) explored virtual environments with the goal of learning where everything was within the environment (Experiment 1) or to find six stars (Experiment 2).There was little difference between the WS and DS groups when the goal was simply to learn about the environment with no specific destination to be reached (Experiment 1); both groups performed at a level akin to a subset of TD children of a similar level of non-verbal ability. The difference became evident when the goal of the task was to locate targets in the environment (Experiment 2). The DS group showed the weakest performance, performing at or below the level of a subset of TD children at a similar level of non-verbal ability, whilst the WS group performed at the level of the TD subset group. The DS, WS and TD group also demonstrated different patterns of exploration behavior. Exploration behaviour in DS was weak and did not improve across trials. In WS, exploration behavior changed across trials but was atypical (the number of revisits increased with repeated trials). Moreover, transdiagnostic individual difference analysis (Latent Profile Analysis) revealed five profiles of exploration and navigation variables, none of which were uniquely specific to DS or to WS. Only the most extreme profile of very poor navigators was specific to participants with DS and WS. Interestingly, all other profiles contained at least one individual with DS and at least one individual with WS. This highlights the importance of investigating heterogeneity in the performance of individuals with intellectual disability and the usefulness of a data-driven transdiagnostic approach to identifying behavioral profiles.

Should We Stop Using Lexical Diversity Measures in Children's Language Sample Analysis?

Prior work has identified weaknesses in commonly used indices of lexical diversity in spoken language samples, such as type-token ratio (TTR) due to sample size and elicitation variation, we explored whether TTR and other diversity measures, such as number of different words/100 (NDW), vocabulary diversity (VocD), and the moving average TTR would be more sensitive to child age and clinical status (typically developing [TD] or developmental language disorder [DLD]) if samples were obtained from standardized prompts. We utilized archival data from the norming samples of the Test of Narrative Language and the Edmonton Narrative Norms Instrument. We examined lexical diversity and other linguistic properties of the samples, from a total of 1,048 children, ages 4-11 years; 798 of these were considered TD, whereas 250 were categorized as having a language learning disorder. TTR was the least sensitive to child age or diagnostic group, with good potential to misidentify children with DLD as TD and TD children as having DLD. Growth slopes of NDW were shallow and not very sensitive to diagnostic grouping. The strongest performing measure was VocD. Mean length of utterance, TNW, and verbs/utterance did show both good growth trajectories and ability to distinguish between clinical and typical samples. This study, the largest and best controlled to date, re-affirms that TTR should not be used in clinical decision making with children. A second popular measure, NDW, is not measurably stronger in terms of its psychometric properties. Because the most sensitive measure of lexical diversity, VocD, is unlikely to gain popularity because of reliance on computer-assisted analysis, we suggest alternatives for the appraisal of children's expressive vocabulary skill.

Neural correlates of response to joint attention in 2-to-5-year-olds in relation to ASD and social-communicative abilities: An fNIRS and behavioral study.

Autism spectrum disorder (ASD) is associated with life-long challenges with social cognition, and one of its earliest and most common manifestations is atypical joint attention, which is a pivotal skill in social-cognitive and linguistic development. Early interventions for ASD children often focus on training initiation of joint attention (IJA) and response to joint attention bids (RJA), which are important for social communication and cognition. Here, we used functional near-infrared spectroscopy and behavioral measures to test typically developing (TD, n = 17) and ASD children (n = 18), to address the relationship between the neural correlates of RJA and social-communicative behavior. Group-level differences were present for RJA-specific activation over right temporal sites, where TD children showed higher levels of activation during RJA than ASD children, whereas the two groups did not differ in the control condition. Correlations between neural activation and behavioral traits suggest that, in ASD children, neural activation during RJA is related to the frequency of RJA behavior when the former is measured over left temporal sites, and to social affect symptoms when considered for right temporal sites. Possible implications of the evidenced correlations are discussed.

Abnormalities in both stimulus-induced and baseline MEG alpha oscillations in the auditory cortex of children with Autism Spectrum Disorder.

The neurobiology of Autism Spectrum Disorder (ASD) is hypothetically related to the imbalance between neural excitation (E) and inhibition (I). Different studies have revealed that alpha-band (8-12Hz) activity in magneto- and electroencephalography (MEG and EEG) may reflect E and I processes and, thus, can be of particular interest in ASD research. Previous findings indicated alterations in event-related and baseline alpha activity in different cortical systems in individuals with ASD, and these abnormalities were associated with core and co-occurring conditions of ASD. However, the knowledge on auditory alpha oscillations in this population is limited. This MEG study investigated stimulus-induced (Event-Related Desynchronization, ERD) and baseline alpha-band activity (both periodic and aperiodic) in the auditory cortex and also the relationships between these neural activities and behavioral measures of children with ASD. Ninety amplitude-modulated tones were presented to two groups of children: 20 children with ASD (5 girls, Mage = 10.03, SD = 1.7) and 20 typically developing controls (9 girls, Mage = 9.11, SD = 1.3). Children with ASD had a bilateral reduction of alpha-band ERD, reduced baseline aperiodic-adjusted alpha power, and flattened aperiodic exponent in comparison to TD children. Moreover, lower raw baseline alpha power and aperiodic offset in the language-dominant left auditory cortex were associated with better language skills of children with ASD measured in formal assessment. The findings highlighted the alterations of E / I balance metrics in response to basic auditory stimuli in children with ASD and also provided evidence for the contribution of low-level processing to language difficulties in ASD.

Early identification of autism spectrum disorder based on machine learning with eye-tracking data

BackgroundEarly identification of autism spectrum disorder (ASD) improves long-term outcomes, yet significant diagnostic delays persist. MethodsA retrospective cohort of 449 children (ASD: 246, typically developing [TD]: 203) was used for model development. Eye-movement data were collected from the participants watching videos that featured eye-tracking paradigms for assessing social and non-social cognition. Five machine learning algorithms, namely random forest, support vector machine, logistic regression, artificial neural network, and extreme gradient boosting, were trained to classify children with ASD and TD. The best-performing algorithm was selected to build the final model which was further evaluated in a prospective cohort of 80 children. The Shapley values interpreted important eye-tracking features. ResultsRandom forest outperformed other algorithms during model development and achieved an area under the curve of 0.849 (< 3 years: 0.832, ≥ 3 years: 0.868) on the external validation set. Of the ten most important eye-tracking features, three measured social cognition, and the rest were related to non-social cognition. A deterioration in model performance was observed using only the social or non-social cognition-related eye-tracking features. LimitationsThe sample size of this study, although larger than that of existing studies of ASD based on eye-tracking data, was still relatively small compared to the number of features. ConclusionsMachine learning models based on eye-tracking data have the potential to be cost- and time-efficient digital tools for the early identification of ASD. Eye-tracking phenotypes related to social and non-social cognition play an important role in distinguishing children with ASD from TD children.

The Impact of Sex on Cognitive Control in ADHD: Girls Slow to Inhibit, Boys Inhibit Less, and Both Show Higher Response Variability

Objective: To determine whether girls and boys with ADHD show distinct impairments in components of cognitive control across multiple tasks (go/no-go, stop signal, and flanker) and performance metrics (response speed, variability, and errors). Method: A total of 300 children, ages 8 to 12 years with ADHD (n = 210, 58 girls) or typically developing (TD; n = 99, 37 girls), completed all tasks. Traditional response measures (e.g., mean and standard deviation of reaction time, inhibition errors, and stop signal reaction time) and ex-Gaussian modeling of reaction times (mu, sigma, and tau) were analyzed. Results: Girls showed intact response inhibition in the context of slower response speed, while boys made more inhibition errors and did not slow their response speed. Both girls and boys with ADHD showed higher response variability and poorer interference control than TD children. Conclusion: Girls and boys with ADHD show distinct impairments in cognitive control that may be important for understanding the pathophysiology of ADHD.

The Relationship of Text Inference Abilities and Reading Comprehension in Children with High-Functioning Autism Spectrum Disorder

Objectives: Reading comprehension in school-age children is an essential ability facilitates acquisition of information from general education. Yet, even with average or above cognitive and word recognition abilities, children with High Functioning Autism Spectrum Disorder (HF-ASD) demonstrate difficulties with reading comprehension. The purpose of the this study was to investigate that identifying the reading comprehension competence with a focus on text inference abilities (coherence processing, metalinguistic, theory of mind) in children with HF-ASD in the lower grades of elementary school.Methods: 15 HF-ASD and 15 age matched typically developing peers (TD) participated in this study. The participants performed reading comprehension tasks and text inferencing tasks (coherence processing, metalinguistic, theory of mind).Results: First, the reading comprehension accuracy of the HF-ASD group was significantly lower than the TD group. Second, the text inference accuracy of the HF-ASD group was significantly lower compared with the TD group. Third, in the TD group, there was a significant correlation between all text inference abilities (coherence processing, metalinguistic, theory of mind) and reading comprehension competence. In contrast, in the HF-ASD group, there was a positive correlation between coherence processing, metalinguistic and reading comprehension competence; however no significant relationship was found between theory of mind and reading comprehension competence. Finally, the coherence processing task predicted reading comprehension competence of children with HF-ASD by 52.2% and TD children by 42.1%.Conclusion: This study suggests that supporting connecting information within a text, local inferencing, and focusing on the coherence processing intervention is necessary for reading comprehension of children with HF-ASD in the lower grades of elementary school.

자폐스펙트럼장애 아동의 장면 기반 감정상징 인식 및 표현능력

Background and Objectives: The purpose of this study was to examine the ability of preschool children with autism spectrum disorder (ASD) and typically developing children to recognize and express scene-based emotion symbols. Method: 15 children with ASD and 15 typically developing children aged 3-6 participated. In the scene-based emotion recognition task, 4 scene-based symbols were presented on a screen and the children were asked to select the scene-based symbol related to the target emotional vocabulary. In the emotional expression task, 14 scene-based symbols were randomly listed and the children were asked to identify the emotions of the main character. Results: First, there were significant differences in emotional recognizing between ASD and TD children. Second, except for dislike, there were significant differences in emotional expression in the sence-based graphic symbols for joy/pleasure, sadness, anger, and scared. Analysis of error types in the emotional expression task showed that children with ASD had a higher rate of nonmeaningful errors compared to meaningful errors. Conclusion: The results of this study suggest that the emotional expression and recognizing abilities of children with ASD are lower than those of TD children, which may be attributed to difficulties in grasping emotional approaches and overall situational contexts. The results indicate the need for training in scene-based graphic symbol learning when applying augmentative and alternative communication (AAC) systems for children with ASD.

Ex vivo exposure to polybrominated diphenyl ether (PBDE) selectively affects the immune response in autistic children

Children on the autism spectrum have been shown to have immune dysregulation that often correlates with behavioral deficits. The role of the post-natal environment in this dysregulation is an area of active investigation. We examined the association between plasma levels of polybrominated diphenyl ether (PBDE) and immune cell function in age-matched autistic children and non-autistic controls. Plasma from children on the autism spectrum (n = 38) and typically developing controls (TD; n = 60) were analyzed for 14 major PBDE congeners. Cytokine/chemokine production was measured in peripheral blood mononuclear cell (PBMC) supernatants with and without ex vivo BDE-49 exposure. Total plasma concentration (∑PBDE14) and individual congener levels were also correlated with T cell function. ∑PBDE14 did not differ between diagnostic groups but correlated with reduced immune function in children on the autism spectrum. In autistic children, IL-2 and IFN-γ production was reduced in association with several individual BDE congeners, especially BDE-49 (p = 0.001). Furthermore, when PBMCs were exposed ex vivo to BDE-49, cells from autistic children produced elevated levels of IL-6, TNF-α, IL-1β, MIP-1α and MCP-1 (p < 0.05). Therefore, despite similar plasma levels of PBDE, these data suggest that PBMC function was differentially impacted in the context of several PBDE congeners in autistic children relative to TD children where increased body burden of PBDE significantly correlated with a suppressed immune response in autistic children but not TD controls. Further, acute ex vivo exposure of PBMCs to BDE-49 stimulates an elevated cytokine response in AU cases versus a depressed response in TD controls. These data suggest that exposure to the toxicant BDE-49 differentially impacts immune cell function in autistic children relative to TD children providing evidence for an underlying association between susceptibility to PBDE exposure and immune anomalies in children on the autism spectrum.

Diagnosing inconsistent phonological disorder: quantitative and qualitative measures

ABSTRACT Studies of children’s consistency of word production allow identification of speech sound disorder. Inconsistent errors are reported for two groups of children: childhood apraxia of speech (CAS) due to difficulty with the motoric precision and consistency of speech movements; and inconsistent phonological disorder (IPD) attributed to impaired phonological planning. This paper describes the inconsistent productions of children with IPD in comparison to typically developing children. In two studies of suspected SSD (N = 135), 22 children pronounced ≥40% of 25 words inconsistently on three repeated trials. No participant had symptoms of CAS. They were monolingual and spoke Australian- or Irish-English. Assessment determined the proportions of words said consistently (i.e. the same across productions: all correct or with the same error) or inconsistently (i.e. differently across productions: at least one correct and one error or different errors in productions). Qualitative analyses examined error types and explored the effect of target words’ characteristics on inconsistency. Children with IPD produced 52% of words with different errors. While 56% of all phoneme errors were developmental (age appropriate or delayed), atypical errors typified inconsistency: default sounds and word structure errors. Words with more phonemes, syllables and consonant clusters were vulnerable to inconsistency, but their frequency of occurrence had no effect. TD children and those with IPD had different quantitative and qualitative error profiles, confirming IPD as a diagnostic category of SSD. Qualitative analyses supported the hypothesised deficit in phonological planning of words’ production for children with IPD.

Internalising and Externalising Symptoms and Their Association with the Family Environment in Young Children with Williams Syndrome: A Longitudinal Study.

Williams Syndrome (WS) involves high rates of psychopathology across the lifespan. However, little is known about the early, longitudinal trajectory of internalising/externalising symptoms or the association between these and the family environment in WS. WS (n = 16; aged 2 years, 2 months to 9 years, 5 months) and typically developing or TD (n = 46; aged 2 years, 2 months to 11 years, 1 month) children were assessed on two occasions over 2.5 years utilising parent report questionnaires-the Child Behaviour Checklist and the Family Environment Scale. No statistically significant changes were found in CBCL/psychopathology profiles across timepoints, on average, for either WS or TD children. However, reliable change scores showed WS children had considerable variability in CBCL scores over time. Cross-sectionally, the WS group showed higher scores (reflecting more psychopathology) compared to TD controls at both time points across most CBCL subscales, with elevated overall psychopathology problems identified in 56-68% of WS children (versus 8% in TD controls). Psychopathology was not associated with sex, chronological age, or cognitive ability in WS. Conflict in the family environment was positively associated with higher Attention Problems at Time 1 in the WS group, whilst the TD group showed associations between family conflict and total psychopathology problems at both time points and between family cohesion and total psychopathology problems at Time 2. Family environment did not differ between groups, except for lower engagement in intellectual and cultural activities in WS. Findings highlight variable Internalising and Externalising Problems in young WS children over time, with greater biological than environmental contributions to psychopathology in WS.

Repeat testing enhances long-term verbal memory in children with epilepsy

ABSTRACT To (i) determine whether accelerated long-term forgetting (ALF) can be found using standardized verbal memory test materials in children with genetic generalized epilepsy (GGE) and temporal lobe epilepsy (TLE), and (ii) to establish whether ALF is impacted by executive skills and repeat testing over long delays. One hundred and twenty-three children aged 8 to 16, (28 with GGE, 23 with TLE, and 72 typically developing; TD) completed a battery of standardized tests assessing executive functioning and memory for two stories. Stories were recalled immediately and after a 30-min delay. To examine whether repeat testing impacts long-term forgetting, one story was tested via free recall at 1-day and 2-weeks, and the other at 2-weeks only. Recognition was then tested for both stories at 2-weeks. Children with epilepsy recalled fewer story details, both immediately and after 30-min relative to TD children. Compared to TD children, the GGE group, but not the TLE group, showed ALF, having significantly poorer recall of the story tested only at the longest delay. Poor executive skills were significantly correlated with ALF for children with epilepsy. Standard story memory materials can detect ALF in children with epilepsy when administered over long delays. Our findings suggest that (i) ALF is related to poor executive skills in children with epilepsy, and (ii) repeated testing may ameliorate ALF in some children.