Typically Developing Research Articles

Gastrointestinal Symptoms in Autism Spectrum Disorder: A Case-Control Study.

Background and objectives This study aimed to explore the frequency of gastrointestinal (GI) symptoms and associated risk factors among children with autism spectrum disorder (ASD). Methods This was a retrospective case-control study including children aged 2-14 years diagnosed with ASD by the Diagnostic and Statistical Manual of Mental Disorders (DSM)-5 criteria and the assessment card in the ASD center at King Salman Armed Forces Hospital. Data were obtained using a self-developed questionnaire that included demographic features, nutritional and behavioral characteristics, and GI symptoms in the previous six months. The control group consisted of typically developing (TD) children matched to the ASD group for age and gender. Syndromic autism with defined somatic abnormalities and recognized genetic causes (e.g., fragile X syndrome, tuberous sclerosis) were excluded Results A total of 146 ASD children and 114 normal children were included. No significant demographic differences were found between the groups. The ASD group had a higher frequency of low income and a significantly lower rate of exclusive breastfeeding in the first six months. GI symptoms, specifically constipation, abdominal gases and distension, diarrhea, undigested food particles in stool, and mouth ulcers, were significantly more frequent in the ASD group. Weight abnormalities (both increase and decrease) were also more common. Family history of ASD was significantly more in ASD children with GI symptoms while low maternal education was more in those without. Conclusion This study reveals a high prevalence of GI symptoms in ASD children. Family history of ASD and maternal education may influence the GI symptoms reported in ASD children.

Toward an endophenotype for ADHD: Exploring the duration mismatch negativity in drug-free children with ADHD

Attention deficit hyperactivity disorder (ADHD) is one of the most prevalent disorders in children that is considered to affect early stages of information processes. Inefficient processing of temporal information, which is a vital auditory processing skill suggests itself as a potential candidate for investigating ADHD deficits. The Research Domain Criteria (RDoC), a neuroscience-based research framework, has been introduced to study mental illness without relying on pre-established diagnostic categories. In this regard, Mismatch Negativity (MMN) has been considered an ideal electrophysiological marker for investigating ADHD deficits. This study investigates alterations in the amplitude and latency of the MMN component in response to changes in the duration and Inter-Stimulus Interval (ISI) of basic sound stimuli within an oddball task. The MMN paradigm was employed to examine duration deviations in ADHD (n = 25, 84% male, mean age: 7.3 years, SD = 2.01) compared to Control group of typically developing (TD) children (n = 25, 72% male, mean age: 7.2 years, SD = 1.92). Participants with ADHD were introduced from an accredited psychiatrist. TD children were recruited from social media and online forms. Both groups were matched in terms of gender, age and IQ. The psychological tests conducted in this study included Conners’ Parent Rating Scale (CPRS), Gilliam Autism Rating Scale|Third Edition (Gars3), Sensory profile questionnaire and Edinburgh Handedness inventory. Our findings revealed reduced MMN amplitudes in response to two blocks of duration and ISI-based deviations in ADHD children. To elaborate in greater detail, at Fz, in Duration and ISI block, respectively, the ADHD group showed an amplitude of −1.2097 ± 0.2938 and −0.8553 ± 0.4423, while the normal group showed an amplitude of −1.8325 ± 0.3689 and −2.0855 ± 0.3802. Additionally, at Cz, the ADHD group exhibited a shorter amplitude (-1.2515 ± 0.3261 and −0.9367 ± 0.3432) compared to the normal group (−2.1319 ± 0.4445 and −2.7561 ± 0.4883), in the duration and ISI blocks, respectively. Furthermore, children with ADHD display longer MMN latencies in both experimental blocks, suggesting atypical responses. To provide more detail, at Fz, the ADHD group displayed MMN latencies of 239.68 ± 5.059 and 226.88 ± 4.885 in the Duration and ISI blocks, respectively, whereas the normal group showed MMN latencies of 228.56 ± 6.584 and 213.56 ± 4.153. Similarly, at Cz, the ADHD group exhibited longer MMN latencies (234.40 ± 5.741 and 231.44 ± 5.464) compared to the normal group (227.52 ± 6.710 and 218.00 ± 5.261) in the Duration and ISI blocks, respectively. Our findings were interpreted in the context of the internal clock model, which involves the pace of an internal pacemaker regulated by dopamine (DA) levels. The convergence of MMN and auditory timing abnormalities within the RDoC framework suggests their potential as endophenotypes for ADHD, highlighting the significance of sensory processing in understanding the disorder.

Maltreatment and parenting in youth with primary and secondary callous‐unemotional traits: Anxiety matters

AbstractBackgroundYouth with conduct disorder (CD) and high callous‐unemotional (CU) traits are not a homogenous group and can be disaggregated into primary and secondary subgroups. However, there are inconsistencies in defining primary and secondary subgroups, with some studies using anxiety, others using maltreatment and still others using both features to identify subgroups. There is a paucity of work comparing primary and secondary subgroups with typically developing (TD) youth on experiences of maltreatment and parenting as well as a lack of studies investigating sex differences.MethodsIn a large sample of TD youth (n = 946, 66% female) and youth with CD (n = 885, 60% female), we used latent profile analysis in youth with CD aged between 9 and 18 years to address four aims: (i) to demonstrate how primary and secondary subgroup membership differs when anxiety, maltreatment, or both are used as continuous indicators, (ii) to compare primary and secondary subgroups with TD youth on abuse and neglect measures, and (iii) to compare primary and secondary subgroups with TD youth on parenting experiences, and (iv) to examine whether the results were consistent across sexes.ResultsAnxiety without maltreatment yielded the best fitting and most theoretically interpretable classification of primary and secondary subgroups across both sexes (Bayesian information criterion = 17832.33, Entropy = 0.75, Lo‐Mendell‐Rubin: p < 0.01). Compared with TD youth, youth with primary and secondary CU traits experienced greater levels of abuse and neglect (p < 0.001, η2p = 0.04−0.16) and maladaptive parenting practices (p < 0.001, η2p = 0.04−0.13). Youth with primary and secondary CU traits were equally high on levels of abuse, neglect, and maladaptive parenting (all p values >0.05).ConclusionsWe provide evidence that anxiety and maltreatment cannot be used interchangeably to identify youth with primary versus secondary CU traits. Anxiey yielded the best fitting and most theoretically interpretable classifications across both sexes. Our results signify the need for researchers and clinicians to adopt a unified approach to defining primary and secondary subgroups of CU traits using anxiety in both sexes.

Evaluating the association between developmental language disorder and depressive symptoms in preschool children

This study aims to investigate the association between developmental language disorder (DLD) and depressive symptoms in preschool-aged children, building upon previous research that has demonstrated emotional difficulties in children with DLD. Forty-one children with DLD or children at risk for DLD (DLD group) and 41 children with typical language development (TLD) were included in this study. Language development was evaluated using the TEDIL test which is a Turkish adaptation of the Test of Early Language Development-3. Auto acoustic Emissions Testing and Immittance-Metric Assessment were used to exclude children with hearing impairment. Developmental delays were excluded by Denver Developmental Screening Test II. Mothers filled out the Sociodemographic Data Form and the Child Depressive Symptoms Assessment Scale. The results demonstrate that children in DLD group scored significantly higher on the Child Depressive Symptoms Assessment Scale, manifesting increased levels of aggression, separation anxiety, impulsivity, hyperactivity, and encountering greater social adaptation difficulties and deterioration in cognitive processes than TLD. Multivariate regression analysis suggests that increased impulsivity and hyperactivity, alongside social and cognitive challenges, are predictors of DLD. The study concludes that depressive symptoms are more prevalent in children in DLD group than in their typically developing counterparts. These findings underscore the necessity for targeted psychiatric and pedagogical interventions, as well as individualized educational programs that cater to the socio-emotional and cognitive needs of children with DLD.

The Impact of Cerebral Visual Impairment on Social Skills and Sensory Processing.

Limited evidence exists on the impact of cerebral visual impairment (CVI) on developmental domains in toddlers. This study investigated whether CVI influences social skills and sensory processing in toddlers with cerebral palsy (CP). The study included toddlers with CP, with or without CVI, and typically developing (TD) toddlers. All parents completed the demographic information form. Social skills were assessed by the Brief Infant-Toddler Social and Emotional Assessment (BITSEA). Sensory processing was evaluated by the Infant/Toddler Sensory Profile (ITSP). Analysis of covariance was employed to assess the disparity in BITSEA and ITSP scores. Toddlers with CP and CVI group demonstrated lower social competence than the other groups (p < .05). Having CVI did not cause a statistically significant difference in sensory processing among toddlers with CP (p > .05). CVI significantly affects social competence in toddlers with CP but does not affect sensory processing.

Relationships between tryptophan-related gut metabolites, brain activity, and autism symptomatology.

Gut microbial metabolites have been theorized to play a causative role in the pathophysiology of autism spectrum disorder (ASD). This hypothesis is based on results from mechanistic preclinical studies and several correlational studies showing differences in gut microbial composition between ASD subjects and neurotypical (NT) controls. However, alterations in how the human brain interacts with the gut microbiome in ASD have not been examined. In this cross-sectional, case-control observational study, fecal metabolomics, task-based functional magnetic resonance imaging (fMRI), and behavioral assessments were obtained from 43 ASD and 41 NT children aged 8-17. The fMRI tasks were based on socio-emotional and sensory paradigms that commonly show strong evoked brain differences in ASD participants. General linear models and mediational modeling were applied to examine the links between tryptophan metabolism and evoked brain activity and behavior. Results indicated that fecal levels of specific tryptophan-related metabolites were associated with: 1) brain activity atypicalities in regions previously implicated in ASD (i.e., insula and cingulate); and 2) ASD severity and symptomatology (i.e., ADOS scores, disgust propensity, and sensory sensitivities). Importantly, activity in the mid-insula and mid-cingulate significantly mediated relationships between the microbial tryptophan metabolites, indolelactate and tryptophan betaine, and ASD severity and disgust sensitivity. To our knowledge, this is the first study to elucidate how interactions between gut metabolites and brain activity may impact autism symptomatology, particularly in functional brain pathways associated with vagal and interoceptive/emotion processing.

The Relationship Between Theory of Mind and Listening Comprehension Among Chinese Preschoolers with and without Autism Spectrum Disorder.

The study aimed to examine the performance on linguistic and cognitive tasks among Chinese preschool children with and without autism spectrum disorder (ASD) and explore the direct and indirect relationships between theory of mind (ToM) and literal and inferential listening comprehension. Forty-nine (N = 49) children with ASD and fifty-two (N = 52) age- and gender-matched typically developing (TD) children participated in the study. All participants were administered tasks evaluating their listening comprehension of literal and inferential statements, ToM, as well as verbal and nonverbal IQ. Results showed that the ASD group performed statistically worse on listening comprehension, ToM abilities, verbal IQ, and nonverbal IQ than their TD peers. Further, we found statistically significant correlations between general ToM performance and overall listening comprehension among Chinese preschool children with and without ASD. More specifically, ToM abilities of children with ASD had an indirect effect on their literal listening comprehension via the mediation of verbal IQ, whereas ToM performance among TD children predicted their literal listening comprehension via the mediation of nonverbal IQ. The major findings were discussed in detail based on the situation model. The research facilitated insights into listening comprehension among Chinese preschool children with and without ASD, providing their caregivers and teachers with viable strategies to improve their listening comprehension.

Changing Attitudes Towards People with Disabilities in a Positive Direction: A Pilot Practice of Psychoeducation in Primary Education

Background: Acceptance by society and a sense of belonging are fundamental needs, second only to physiological requirements. However, discrimination, involving the exclusion of individuals perceived as different and less worthy, remains a pervasive issue in almost every society. Those most adversely affected by this problem are often people with disabilities. This study aimed to assess the impact of a multi-component psychoeducational program on the attitudes of children with typical development toward peers with disabilities during middle childhood. Participants and procedure: An experimental study was conducted, involving 61 students aged 9-12 attending primary school. The pretest-posttest results of the experimental, placebo, and control groups were compared at the end of the study. Results: The psychoeducational program was found to significantly enhance the attitudes of typically developing children toward their peers with disabilities. Specifically, statistically significant differences were observed in the avoidance dimension and the total attitude score among typically developing children in the experimental, placebo, and control groups. However, no significance was found in the dimensions of acceptance, pity, and sense of similarity. Conclusions: The study's findings are expected to contribute to preventive and intervention programs designed to foster positive attitudes towards people with disabilities in primary education.

Effects of computer-based cognitive training vs. paper-and-pencil-based training on the cognitive development of typically developing children: Protocol for a randomized controlled trial

The research aims to evaluate the effectiveness of a computerized cognitive training program in improving executive functions and attention in elementary school children, compared to a traditional paper-and-pencil intervention. The study has been formulated as a randomized controlled trial with pre- and post-intervention measures. For the study, third-grade children with typical development aged between 7 and 9 years will be recruited. Participants will be randomly assigned to the two study arms (control and experimental). The experimental group will participate in a computerized intervention using the NeuronUp cognitive stimulation platform for 8 weeks, twice a week. Sessions will be conducted using computers in the computer lab of the participating educational institution. The active control group will engage in paper-and-pencil cognitive training for the same duration and intensity as the experimental group. Evaluators will be blinded to the assignment, and participants will be blinded to the target intervention. Hypothesis testing will be conducted through ANOVA-MR, and logistic regressions will be implemented to assess the effect of socioeconomic variables on children's performance. These results are expected to contribute to the discussion on the opportunities and benefits offered by cognitive training programs on the cognitive development of typically developing children.

Altered neural synchronization in response to 2 Hz amplitude-modulated tones in the auditory cortex of children with Autism Spectrum Disorder: An MEG study

ObjectiveSome studies have hypothesized that atypical neural synchronization at the delta frequency band in the auditory cortex is associated with phonological and language skills in children with Autism Spectrum Disorder (ASD), but it is still poorly understood. This study investigated this neural activity and addressed the relationships between auditory response and behavioral measures of children with ASD. MethodsWe used magnetoencephalography and individual brain models to investigate 2 Hz Auditory Steady-State Response (ASSR) in 20 primary-school-aged children with ASD and 20 age-matched typically developing (TD) controls. ResultsFirst, we found a between-group difference in the localization of the auditory response, so as the topology of 2 Hz ASSR was more superior and posterior in TD children when comparing to children with ASD. Second, the power of 2 Hz ASSR was reduced in the ASD group. Finally, we observed a significant association between the amplitude of neural response and language skills in children with ASD. ConclusionsThe study provided the evidence of reduced neural response in children with ASD and its relation to language skills. SignificanceThese findings may inform future interventions targeting auditory and language impairments in ASD population.

Oculomotor differences in adults with and without probable developmental coordination disorder.

Adults with Developmental Coordination Disorder (DCD), sometimes referred to as dyspraxia, experience difficulties in motor development and coordination, which impacts on all aspects of their daily lives. Surprisingly little is known about the mechanisms underlying the difficulties they experience in the motor domain. In childhood DCD, aspects of oculomotor control have been shown to be altered. The purpose of this study was to determine whether oculomotor differences are present in adults with and without probable DCD. Visual fixation stability, smooth pursuit, and pro-and anti-saccade performance were assessed in 21 adults (mean age 29 years) with probable DCD/dyspraxia (pDCD) and 21 typically-developing (TD) adults (mean age 21 years). Eye tracking technology revealed that oculomotor response preparation in the pro- and anti-saccade tasks was comparable across groups, as was pursuit gain in the slower of the two smooth pursuit tasks. However, adults with pDCD made significantly more saccades away from the fixation target than those without DCD and significantly more anti-saccade errors. Further, compared to TD adults, adults with pDCD demonstrated difficulties in maintaining engagement and had lower pursuit gain in the faster pursuit task. This suggests that adults with pDCD have problems with saccadic inhibition and maintaining attention on a visual target. Since this pattern of results has also been reported in children with DCD, oculomotor difficulties may be persistent for those with DCD across the lifespan. An awareness of the impact of atypical oculomotor control in activities of daily living across the lifespan would support clearer understanding of the causes and impacts of these difficulties for those with DCD.

Understanding the differences in the use of graphic tool and planning during graphic execution between individuals with autism and typically developing individuals

Individuals with autism (ASD) often face difficulty in executing graphic tasks. This can be related to how one uses a graphic tool (e.g., pen) and plans ahead the graphic execution. Use of graphic tool can be captured using attributes, e.g., pen-tip pressure, number of pen lifts, etc. One’s ability to plan a graphic execution can be quantified using the total duration of pen lifts (i.e., air time). Though pen-and-paper-based Trail Making Test-Part A (TMT-A) can estimate planning of graphic execution, yet it cannot capture other attributes, e.g., pen-tip pressure, pen lift, etc. This can be possible if TMT-A is administered on a pressure-sensitive tablet as seen from existing studies with typically developing (TD) individuals. However, quantification of such attributes using TMT-A administered on a pressure-sensitive tablet remains unexplored for individuals with ASD. In addition, such objective measures can help to understand variations in the use of graphic tool and ability to plan graphic execution even outside the TMT-A task, e.g., while drawing shapes which is important to the development of children’s graphic skills. Here, we conducted a study with 12 pairs of TD children and those with ASD who executed TMT-A (in Phase-I) and shape drawing (in Phase-II) on a pressure-sensitive tablet. Results of our study show differences in the use of graphic tool and planning ahead the graphic execution between two participant groups in both the Phases. Such insights can offer clinical inputs that can be helpful in designing individualized intervention paradigms for children facing difficulties in graphic execution.

Differential inflammatory profiles in carriers of reciprocal 22q11.2 copy number variants

BackgroundGenetic copy number variants (CNVs; i.e., a deletion or duplication) at the 22q11.2 locus confer increased risk of neuropsychiatric disorders and immune dysfunction. Inflammatory profiles of 22q11.2 CNV carriers can shed light on gene-immune relationships that may be related to neuropsychiatric symptoms. However, little is known about inflammation and its relationship to clinical phenotypes in 22q11.2 CNV carriers. Here, we investigate differences in peripheral inflammatory markers in 22q11.2 CNV carriers and explore their relationship with psychosis risk symptoms and sleep disturbance. MethodsBlood samples and clinical assessments were collected from 22q11.2 deletion (22qDel) carriers (n=45), 22q11.2 duplication (22qDup) carriers (n=29), and typically developing (TD) control participants (n=92). Blood plasma levels of pro-inflammatory cytokines, including interleukin-6 (IL-6), interleukin-8 (IL-8), tumor necrosis factor-alpha (TNF-α) and interferon-gamma (IFN-γ), and anti-inflammatory cytokine interleukin-10 (IL-10) were measured using a MesoScale Discovery multiplex immunoassay. Plasma levels of C-reactive protein (CRP) were measured using Enzyme-linked Immunosorbent Assay (ELISA). Linear mixed effects models controlling for age, sex, and body mass index were used to: a) examine group differences in inflammatory markers between 22qDel, 22qDup, and TD controls, b) test differences in inflammatory markers between 22qDel carriers with psychosis risk symptoms (22qDelPS+) and those without (22qDelPS-), and c) conduct an exploratory analysis testing the effect of sleep disturbance on inflammation in 22qDel and 22qDup carriers. A false discovery rate correction was used to correct for multiple comparisons. Results22qDup carriers exhibited significantly elevated levels of IL-8 relative to TD controls (q<0.001) and marginally elevated IL-8 levels relative to 22qDel carriers (q=0.08). There were no other significant differences in inflammatory markers between the three groups (q>0.13). 22qDelPS+ exhibited increased levels of IL-8 relative to both 22qDelPS- (q=0.02) and TD controls (p=0.002). There were no relationships between sleep and inflammatory markers that survived FDR correction (q>0.14). ConclusionOur results suggest that CNVs at the 22q11.2 locus may have differential effects on inflammatory processes related to IL-8, a key mediator of inflammation produced by macrophages and microglia. Further, these IL-8-mediated inflammatory processes may be related to psychosis risk symptoms in 22qDel carriers. Additional research is required to understand the mechanisms contributing to these differential levels of IL-8 between 22q11.2 CNV carriers and IL-8’s association with psychosis risk.

Metabolomic Profiles in Jamaican Children With and Without Autism Spectrum Disorder.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a wide range of behavioral and cognitive impairments. While genetic and environmental factors are known to contribute to its etiology, metabolic perturbations associated with ASD, which can potentially connect genetic and environmental factors, remain poorly understood. Therefore, we conducted a metabolomic case-control study and performed a comprehensive analysis to identify significant alterations in metabolite profiles between children with ASD and typically developing (TD) controls in order to identify specific metabolites that may serve as biomarkers for the disorder. We conducted metabolomic profiling on plasma samples from participants in the second phase of Epidemiological Research on Autism in Jamaica, an age and sex-matched cohort of 200 children with ASD and 200 TD controls (2-8years old). Using high-throughput liquid chromatography-mass spectrometry techniques, we performed a targeted metabolite analysis, encompassing amino acids, lipids, carbohydrates, and other key metabolic compounds. After quality control and missing data imputation, we performed univariable and multivariable analysis using normalized metabolites while adjusting for covariates, age, sex, socioeconomic status, and child's parish of birth. Our findings revealed unique metabolic patterns in children with ASD for four metabolites compared to TD controls. Notably, three metabolites were fatty acids, including myristoleic acid, eicosatetraenoic acid, and octadecenoic acid. The amino acid sarcosine exhibited a significant association with ASD. These findings highlight the role of metabolites in the etiology of ASD and suggest opportunities for the development of targeted interventions.

Do Children with Autism Spectrum Disorders Show Selective Trust in Social Robots?

Previous researches suggest that social robots can facilitate the learning of children with Autism Spectrum Disorder (ASD) by enhancing their interests, engagement, and attention. However, there is limited understanding regarding whether children with ASD can learn directly from the testimony of social robots and whether they can remain vigilant based on the perceived accuracy of these robots. Therefore, the present study was conducted to examine whether children with ASD demonstrated selective trust towards social robots. Twenty-nine children with ASD between ages of 4-7 years, and 38 typically-developing (TD) age and IQ-matched peers participated in classic selective trust tasks. During the tasks, they learned the names of novel objects from either a pair of social robots or a pair of human informants, where one informant had previously been established as accurate and the other inaccurate. Children with ASD trusted information from an accurate social robot over an inaccurate one, similar to their performance with human informants. However, compared to TD children, children with ASD exhibited lower levels of selective trust regardless of the type of informants they learned from. Our study suggests that children with ASD can selectively trust and acquire knowledge from social robots, shedding light on the potential use of social robots in supporting individuals with ASD.

Preliminary Validation of the Children's Auditory Performance Scale (CHAPS) and the Auditory Processing Domain Questionnaire (APDQ) in Greek Cypriot Children.

Identification of auditory processing disorders is achieved using questionnaires along with linguistic, non-linguistic, and auditory processing tests. Notably, the questionnaires "Children's Auditory Performance Scale" (CHAPS) and "Auditory Processing Domain Questionnaire" (APDQ) are widely recognized and used. The current study investigated the psychometric properties of the CHAPS and APDQ in Greek Cypriot children. The CHAPS and APDQ questionnaires were completed by parents of 40 Greek Cypriot children, 16 typically developing (TD) children, and 24 children with a history of Speech Sound Disorders (SSDs). There were significant differences between the two groups on both questionnaires. Cronbach's alpha was calculated at α = 0.922 for the CHAPS total score and α = 0.926 for the APDQ total score. The Receiver Operating Curve (ROC) analysis provided a cut-off point equal to -0.30 (AUC 0.849, p < 0.001) for CHAPS and a cut-off point equal to 90.00 (AUC 0.820, p < 0.001) for APDQ. Significant positive Spearman ρ correlations were observed between the CHAPS and APDQ (ρ = 0.639, p = 0.001). The CHAPS and APDQ can identify distinct auditory processing characteristics between in children with SSDs and TD children.

Phonological assessment for Greek (PAel) test: Reliability and validity in 4-to 6-year-old preschool children

ABSTRACT Single-word phonological tests are widely used for detecting children at risk for Speech Sound Disorders (SSDs). However, specific conceptual and operational criteria should be evaluated to ensure that these assessments are valid and reliable and can serve as diagnostic tools. The current study aimed to investigate the validity and reliability of the screener of a phonological Greek instrument, named the Phonological Assessment for Greek (PAel) comparing the phonological performance of typically developing (TD) children and children with SSDs, aged 4 to 6 years. The participants were 20 TD children and 40 children with SSDs. All participants completed the screener of PAel, the 70-word list of the standardised Test of Phonetic and Phonological Development (TPPD), and a language test, namely the Action Picture Test. Participants who scored below the 25th percentile on the language test were excluded. Phonological analysis revealed that PAel has high content validity. The participants who had received a diagnosis of SSDs presented restricted consonant and cluster inventories and significantly lower whole-word match levels in comparison to their TD peers. The overall Spearman’s correlation coefficients between PAel and TPPD were 0.611 for TD children (p < 0.001) and 0.875 for children with SSDs (p < 0.001), indicating good criterion validity. The tool demonstrated strong test-retest reliability and inter-rater reliability with Spearman values exceeding 0.85, and Intra-class correlation coefficients over 0.90. Overall, the results suggest that PAel has satisfactory reliability and validity and can be used as an assessment tool to detect children at risk for SSDs.

Non-word repetition and vocabulary in Kuwaiti Arabic-speaking children with down syndrome and typically developing children

Overview Non-word repetition (NWR) is one of the most effective predictors of language impairments in children as it has been found to correlate with various language measures and the association between NWR and vocabulary is well documented in typically developing (TD) studies. However, there is a dire need for investigations of language skills in Kuwaiti Arabic individuals with Down Syndrome, and this study set out to fill a gap in this field. Method In this paper, we compare the vocabulary and NWR skills of a group of 48 individuals with DS aged 6–20 years to a group of 44 TD children aged 3–10 years matched on nonverbal IQ. Furthermore, we investigate the correlations among these language measures in the two groups and examine whether NWR can predict receptive and expressive vocabulary in these two groups. Result Results found DS participants performed significantly less than the TD group on the three language measures (receptive vocabulary t(90)= −3.17, p < .01, expressive vocabulary t(90)= −3.27, p < .01, and NWR t(90)= −8.32, p < .01). Moreover, there were strong correlations between NWR and vocabulary (receptive and expressive) in the TD group but not the DS group. Conclusion Findings supported the working memory model and the phonological processing account for the TD group. On the other hand, the poor association between NWR and vocabulary in the DS group might be due to poor phonological discrimination difficulties and speech discrimination difficulties.

Females with autism spectrum disorders show stronger DNA methylation signatures than males in perinatal tissues.

Autism spectrum disorder (ASD) comprises a group of neurodevelopmental conditions currently diagnosed by behavioral assessment in childhood, with reported underdiagnosis in females. Though diagnosis in early life is linked to improved outcomes, we currently lack objective screening tools for newborns. To address this gap, we sought to identify a sex-specific DNA methylation signature for ASD using perinatal tissues that reflect dysregulation in the brain. DNA methylation was assayed from ASD and typically developing (TD) newborn blood, umbilical cord blood, placenta, and post-mortem cortex samples using whole genome bisulfite sequencing (WGBS) in a total of 511 samples. We found that methylation levels of differentially methylated regions (DMRs) differentiated samples by ASD diagnosis in females more than males across the perinatal tissues. We tested three theories for ASD sex differences in newborn blood, finding epigenetic support for an X chromosome-related female protective effect, as well as a high replication rate of DMRs (48.1%) in females across two independent cohorts. In our pan-tissue analysis, three genes (X-linked BCOR, GALNT9, OPCML) mapped to ASD DMRs replicated in all four female tissues. ASD DMRs from all tissues were enriched for neuro-related processes (females) and SFARI ASD-risk genes (females and males). Overall, we found a highly replicated methylation signature of ASD in females across perinatal tissues that reflected dysregulation in the brain and involvement of X chromosome epigenetics. This comparative study of perinatal tissues shows the promise of newborn blood DNA methylation biomarkers for early detection of females at risk for ASD and emphasizes the importance of sex-stratification in ASD studies.

Altered white matter connectivity of ventral language networks in autism spectrum disorder: An automated fiber quantification analysis with multi-site datasets

Comprehension and pragmatic deficits are prevalent in autism spectrum disorder (ASD) and are potentially linked to altered connectivity in the ventral language networks. However, previous magnetic resonance imaging studies have not sufficiently explored the microstructural abnormalities in the ventral fiber tracts underlying comprehension dysfunction in ASD. Additionally, the precise locations of white matter (WM) changes in the long tracts of patients with ASD remain poorly understood. In the current study, we applied the automated fiber-tract quantification (AFQ) method to investigate the fine-grained WM properties of the ventral language pathway and their relationships with comprehension and symptom manifestation in ASD. The analysis included diffusion/T1 weighted imaging data of 83 individuals with ASD and 83 age-matched typically developing (TD) controls. Case-control comparisons were performed on the diffusion metrics of the ventral tracts at both the global and point-wise levels. We also explored correlations between diffusion metrics, comprehension performance, and ASD traits, and conducted subgroup analyses based on age range to examine developmental moderating effects. Individuals with ASD exhibited remarkable hypoconnectivity in the ventral tracts, particularly in the temporal portions of the left inferior longitudinal fasciculus (ILF) and the inferior fronto-occipital fasciculus (IFOF). These WM abnormalities were associated with poor comprehension and more severe ASD symptoms. Furthermore, WM alterations in the ventral tract and their correlation with comprehension dysfunction were more prominent in younger children with ASD than in adolescents. These findings indicate that WM disruptions in the temporal portions of the left ILF/IFOF are most notable in ASD, potentially constituting the core neurological underpinnings of comprehension and communication deficits in autism. Moreover, impaired WM connectivity and comprehension ability in patients with ASD appear to improve with age.