ASD Children Research Articles

De novo mutations within metabolism networks of amino acid/protein/energy in Chinese autistic children with intellectual disability

BackgroundAutism spectrum disorder (ASD) is often accompanied by intellectual disability (ID). Despite extensive studies, however, the genetic basis for this comorbidity is still not clear. In this study, we tried to develop an analyzing pipeline for de novo mutations and possible pathways related to ID phenotype in ASD. Whole-exome sequencing (WES) was performed to screen de novo mutations and candidate genes in 79 ASD children together with their parents (trios). The de novo altering genes and relative pathways which were associated with ID phenotype were analyzed. The connection nodes (genes) of above pathways were selected, and the diagnostic value of these selected genes for ID phenotype in the study population was also evaluated.ResultsWe identified 89 de novo mutant genes, of which 34 genes were previously reported to be associated with ASD, including double hits in the EGF repeats of NOTCH1 gene (p.V999M and p.S1027L). Interestingly, of these 34 genes, 22 may directly affect intelligence quotient (IQ). Further analyses revealed that these IQ-related genes were enriched in protein synthesis, energy metabolism, and amino acid metabolism, and at least 9 genes (CACNA1A, ALG9, PALM2, MGAT4A, PCK2, PLEKHA1, PSME3, ADI1, and TLE3) were involved in all these three pathways. Seven patients who harbored these gene mutations showed a high prevalence of a low IQ score (< 70), a non-verbal language, and an early diagnostic age (< 4 years). Furthermore, our panel of these 9 genes reached a 10.2% diagnostic rate (5/49) in early diagnostic patients with a low IQ score and also reached a 10% diagnostic yield in those with both a low IQ score and non-verbal language (4/40).ConclusionWe found some new genetic disposition for ASD accompanied with intellectual disability in this study. Our results may be helpful for etiologic research and early diagnoses of intellectual disability in ASD. Larger population studies and further mechanism studies are warranted.

Combinatorial Language parent-report Scores Differ Significantly Between Typically Developing Children and Those with Autism Spectrum Disorders.

Prefrontal synthesis (PFS) is a component of constructive imagination. It is defined as the process of mentally juxtaposing objects into novel combinations. For example, to comprehend the instruction "put the cat under the dog and above the monkey," it is necessary to use PFS in order to correctly determine the spatial arrangement of the cat, dog, and monkey with relation to one another. The acquisition of PFS hinges on the use of combinatorial language during early childhood development. Accordingly, children with developmental delays exhibit a deficit in PFS, and frequent assessments are recommended for such individuals. In 2018, we developed the Mental Synthesis Evaluation Checklist (MSEC), a parent-reported evaluation designed to assess PFS and combinatorial language comprehension. In this manuscript we use MSEC to identify differences in combinatorial language acquisition between ASD (N = 29,138) and neurotypical (N = 111) children. Results emphasize the utility of the MSEC in distinguishing language deficits in ASD from typical development as early as 2 years of age (p < 0.0001).

Early life exposure to triclosan from antimicrobial daily necessities may increase the potential risk of autism spectrum disorder: A multicenter study in China

BackgroundAutism spectrum disorders (ASD) are a group of complex neurodevelopmental disorders with unclear etiologies. Our recent work indicated that maternal exposure to triclosan (TCS) significantly increased the autistic-like behavior in rats, possibly through disrupting neuronal retinoic acid signaling. Although environmental endocrine disruptors (EEDs) have been associated with autism in humans, the relationship between TCS, one of the EEDs found in antibacterial daily necessities, and autism has received little attention. ObjectiveThe aims of this multicenter study were to evaluate TCS concentrations in typically developing (TD) children and ASD children, and to determine the relationship between TCS levels and the core symptoms of ASD children. MethodsA total of 1345 children with ASD and 1183 TD children were enrolled from 13 cities in China. Ages ranged between 2 and 7 years. A questionnaire was used to investigate the maternal use of antibacterial daily necessities (UADN) during pregnancy. The core symptoms of ASD were evaluated using the Autism Behavior Checklist (ABC), Childhood Autism Rating Scale (CARS), Social Response Scale (SRS), and the Children Neuropsychological and Behavior Scale-Revision 2016 (CNBS-R2016). The TCS concentration was measured using LC-MS/MS. ResultsMaternal UADN during pregnancy may be an unrecognized potential environmental risk factor for ASD (OR=1.267, P = 0.023). Maternal UADN during pregnancy strongly correlated with TCS levels in the offspring (Adjusted β = 0.277, P < 0.001). TCS concentration was higher in ASD children (P = 0.005), and positively correlated with ABC (Sensory subscales: P = 0.03; Social self-help subscales: P = 0.011) and SRS scale scores (Social awareness subscales: P = 0.045; Social communication subscales: P = 0.001; Autism behavior mannerisms subscales: P = 0.006; SRS total score: P = 0.003) in ASD children. This association was more pronounced in boys than in girls. ConclusionTo our knowledge, this is the first case-control study to examine the correlation between TCS and ASD. Our results suggest that maternal UADN during pregnancy may be a potential risk of ASD in offspring. Further detection of TCS levels showed that maternal UADN during pregnancy may be associated with excessive TCS exposure. In addition, the level of TCS in children with ASD is higher than TD children. The higher levels of TCS in children with ASD may be significantly associated with more pronounced core symptoms, and this association was more significant in male children with ASD.

The Importance of Language Delays as an Early Indicator of Subsequent ASD Diagnosis in Public Healthcare Settings

Previous studies have reported that ASD children with more severe symptoms are diagnosed earlier. However, previous studies in community settings have mostly relied on retrospective parental reports without the use of quantitative standardized test scores. Here, we evaluated the association of language, cognitive, and ASD severity standardized scores with the age of diagnosis in 1-6-year-old children diagnosed in a public healthcare setting. The results revealed that language scores were the strongest variable associated with the age of diagnosis, explaining ~ 30% of the variability across children. Indeed, all children diagnosed before 30-months of age exhibited moderate-to-severe language delays. These results further substantiate the prominence of language delay as a highly visible symptom associated with earlier ASD diagnosis in community clinical settings.

The association between motor coordination impairment and restricted/repetitive behaviors in autistic children: The partial mediating effect of executive function

BackgroundIt has been strongly argued that impaired motor function contributes to the restricted/repetitive behaviors (RRBs) of autistic children, but the mechanism exploration of these claims has been limited by the absence of potential confounders such as executive function. MethodWe investigated the role that executive function (EF) plays in the relationship between motor coordination, EF, and RRBs in a school-aged autism population (n = 188, age = 7.42 ± 1.46 years, 86.7% males) via a structural equation model in a statistically robust way. The Developmental Coordination Disorder Questionnaire, Behavior Rating Inventory of Executive Function, and Restrictive Behavior Scale-Revised were collected to measure motor coordination, EF, and RRBs, respectively. ResultsAmong the participants, 33.5% (n = 63) were classified as intellectual disability, 46.8% (n = 88) had EF dysfunction and 35.1% (n = 66) had motor coordination impairment. We found a direct effect of motor coordination impairment on RRBs among children with ASD and without intellectual disability (β = -0.334, p<0.001), as well as an indirect effect through EF, which was a partial mediator of the relationship (β = −0.140, p = 0.001). ConclusionsMotor coordination impairment should be included in the routine evaluation of autism surveillance and rehabilitation procedure, to address the ASD children who need additional support. It is important to add motor skills and motor coordination training in the daily intervention of autism, which could also improve EF and decrease RRBs in these children.

The Performance of Visual, Auditory, and Motor Cognitive Flexibility for Children with Autism Spectrum Disorder in Taiwan.

PurposeFew studies have tested the cognitive flexibility, specifically auditory and motor flexibility of children with ASD. This study was conducted to understand the relationship between cognitive flexibility and visual, auditory, and motor development in young children with ASD and autistic behaviors.Participants and methodsA purposive sampling approach was used to screen nineteen four- to five-year-old ASD children. Tests included the Autism Behavior Checklist-Taiwan Version and Cognitive Flexibility Test, which included visual, auditory, and motor cognitive flexibility subtests.ResultsAt the pre-switch and post-switch of three subtests, there were considerable variations in the number of ASD passing. According to the findings, children aged five had more visual cognitive flexibility than children aged four, but the lack of significant differences for the other flexibilities. The negative correlation of the three cognitive flexibilities with autistic behaviors was −0.57~-0.64.ConclusionChildren with ASD have significant difficulties in switching rule tasks characterized by visual, auditory, and motor cognitive flexibility. The results suggest that visual cognitive flexibility had an age effect. The negative correlation of the three cognitive flexibilities with autistic behaviors was moderate.

Primary school children rate children with autism negatively on looks, speech and speech content.

Adults and adolescents form negative first impressions of ASD adults and children. We examined the first impression ratings of primary school children (6-9 years) of their ASD peers. 146 school children rated either silent videos, speech or transcribe speech from 14 actors (7 ASD, 7 TD). The ASD actors were rated more negatively than the typically developing actors on all three stimulus types. Children with ASD are likely to be judged more negatively than their peers at the very start of their formal education. Contrary to previous research, for primary school children, the content of the speech was judged as negatively as the delivery of the speech.

Vitamin D status is primarily associated with core symptoms in children with autism spectrum disorder: A multicenter study in China

ObjectiveWe aimed to investigate the relationship between vitamin D status and core symptoms and neurodevelopmental levels in children with ASD with a multicenter survey. MethodsWe enrolled 1321 ASD children and 1279 typically developing (TD) children aged 2–7 years from 13 cities in China. ASD symptoms were assessed with the Autism Behavior Checklist (ABC), Social Responsiveness Scale (SRS) and Childhood Autism Rating Scale (CARS), and neurodevelopmental levels were evaluated with the Children Neuropsychological and Behavior Scale-Revision 2016 (CNBS-R2016). ResultsChildren with ASD had lower serum 25(OH)D levels than TD children. Serum 25(OH)D levels were negatively associated with CARS and communication warning behavior of CNBS-R2016 scores, and were not associated with the development quotients of ASD children. ASD Children were grouped based on the quartiles for 25(OH)D levels in the controls, and children in the first to third quartiles had higher SRS social communication and/or CARS and communication warning behavior of CNBS-R2016 scores than those in the fourth quartile. ConclusionsSerum 25(OH)D levels were primarily associated with core symptoms in children with ASD, and individuals with relatively lower 25(OH)D levels displayed worse autistic symptomatology. More research is needed to determine whether vitamin D supplements would be a useful treatment for ASD.

Development of an Interactive Total Body Robot Enhanced Imitation Therapy for ASD children.

Autism is a neurodevelopmental disorder in which the available therapies target the improvement of social skills, in order to ensure a high quality of life for the child. The use of Social Assistive Robots offers new therapeutic possibilities in which robots can act as therapy enhancers. IOGIOCO project emerges in this framework: it aims at the development of a Robot- Assisted Therapy protocol for the treatment of Autism Spectrum Disorder, through gesture training. The definition of these gestures and their recognition by the robot are parameters that directly affect the engagement of the children. However, the design of a protocol becomes harder in a highly unconstrained environment. Therefore, the current work aims at expanding the gesture set and improving the gesture recognition algorithm available in the IOGIOCO platform. More specifically, total body gestures have been added to the available upper limbs movements, and a custom Activity Detection method has been developed, which allows the identification of the time window in which a gesture is performed. The insertion of this method on a recognition algorithm based on a ResNet, a particular kind of Convolutional Neural Network, improved its F1-score from 57% obtained with the previously-available version, in a dataset of ASD children, to 76%, demonstrating the effectiveness of the Activity Detection method. Furthermore, the expansion of the interaction possibilities to total body movements was positively evaluated by the clinical staff, increasing the engagement of patients and the set of possible trained skills. Therefore, the results of the current work are encouraging. To reinforce the conclusions drawn, the proposed algorithm should be tested in real time on several autistic children within a complete Randomized Clinical Trial, also to study the effectiveness of this type of treatment. From the technical point of view, further improvements of the developed methodology should tackle the remained issues, such as further increasing the recognition capability, especially in the transitions from sitting to standing, that proved to be a hard task for the developed method.

Screening of gastrointestinal symptoms and celiac disease in children with autism spectrum disorder

BackgroundThis study aimed to evaluate the GIT manifestation in Autistic children and relate it to the degree of autism to demonstrate the possible connection between celiac disease and autism. An observational cross-sectional study with analytic component was carried out on 114 children with autism spectrum disorder above 3 years who visited to Phoniatric Unit, Mansoura University Hospitals and were separated into three groups according to DSM-V each of them contained 38 children, group I (children with level I ASD), group II (children with level II ASD), and group III (children with level III ASD).ResultsFifty percent of ASD children in the studied groups showed at least one GIT symptom. Constipation was the most common symptom. The existence of gastrointestinal signs was shown to have a substantial link with the severity of autism. None of the youngsters had celiac disease.ConclusionGastrointestinal issues are frequent in ASD children and may lead to ASD behavioral symptoms. It is possible that children with more severe autism are more prone to suffer from gastrointestinal issues, and the other way around. This research found no evidence to demonstrate a connection between autism spectrum disorder and celiac illness.

Altruism, hypocrisy and theory of mind in autistic and nonautistic children.

Children make choices between generosity and greed every day. Often they must also choose between confession or denial of antisocial acts like greed, thereby displaying either honesty or hypocrisy. Such choices pose cognitive challenges that, in theory, might reflect children's developing social-cognitions and affect their daily social lives and developmental opportunities. Individual differences in altruism and hypocrisy were examined in relation to theory of mind (ToM) in 102 school-age children (44 autistic; 58 typically developing) using ecologically valid altruism and hypocrisy tests where generosity had lasting real-life costs and hypocrisy was self-serving. Selfless altruism was abundant for autistic and nonautistic children alike and was significantly predicted by ToM over and above other predictors like age, gender, and language. More nonautistic (74%) than autistic children (41%) displayed hypocrisy, although individual ToM differences among ASD children were not significantly correlated with it. Findings extend to new instances (altruism and hypocrisy) evidence of ToM's importance for everyday social behaviors that impact upon peer relations while also extending past evidence that: (a) unexpected sociomoral strengths can coexist with ToM delays, (b) attention to individual differences is crucial, and (c) autistic children's capacity to develop sociomoral reasoning should not be underestimated. (PsycInfo Database Record (c) 2022 APA, all rights reserved).

Abnormal Degree Centrality in Children with Low-Function Autism Spectrum Disorders: A Sleeping-State Functional Magnetic Resonance Imaging Study.

PurposeThis study used the graph-theory approach, degree centrality (DC) to analyze whole-brain functional networks at the voxel level in children with ASD, and investigated whether DC changes were correlated with any clinical variables in ASD children.MethodsThe current study included 86 children with ASD and 54 matched healthy subjects Aged 2–5.5 years. Next, chloral hydrate induced sleeping-state functional magnetic resonance imaging (ss-fMRI) datasets were acquired from these ASD and healthy subjects. For a given voxel, the DC was calculated by calculating the number of functional connections with significantly positive correlations at the individual level. Group differences were tested using two-sample t-tests (p < 0.01, AlphaSim corrected). Finally, relationships between abnormal DCs and clinical variables were investigated via Pearson’s correlation analysis.ResultsChildren with ASD exhibited low DC values in the right middle frontal gyrus (MFG) (p < 0.01, AlphaSim corrected). Furthermore, significantly negative correlations were established between the decreased average DC values within the right MFG in ASD children and the total ABC scores, as well as with two ABC subscales measuring highly relevant impairments in ASD (ie, stereotypes and object-use behaviors and difficulties in language).ConclusionTaken together, the results of our ss-fMRI study suggest that abnormal DC may represent an important contribution to elucidation of the neuropathophysiological mechanisms of preschoolers with ASD.

A Preliminary Study on Photic Driving in the Electroencephalogram of Children with Autism across a Wide Cognitive and Behavioral Range

Intermittent photic stimulation (IPS) is a useful technique in electroencephalography (EEG) to investigate the neurophysiological anomalies of brain activity. Although not an active task, IPS has also been explored in ASD; it is thought to capture local potential oscillators at specific frequencies and perhaps tap into rhythmic activity in a way that general resting-state recordings cannot. Previous studies suggest that individuals with ASD showed photic driving reactivity predominantly at lower frequencies of stimulation. In our study we used IPS to measure rhythmic oscillatory activity in a sample of 81 ASD children. We found a significant correlation linking ASD children with photic driving activation only at low frequencies (δθ band) and increased severity of “restricted behavior”. This suggests that ASD children with higher severity of restricted behaviors could have a hypersynchronous θ power and an impaired resonance synchronization at middle-ranged frequencies (α). Furthermore, we found some evidence of hemispherical oscillatory asymmetry linked particularly to behavioral impairments. This result is in line with the EEG pattern model indicating a “U-shaped profile” of electrophysiological power alterations with excess power in low- and high-frequency bands and a reduction of power in the middle-ranged frequencies. IPS technique in electroencephalography is confirmed to reveal EEG biomarkers in autistic children, with a focus on spectral power, coherence, and hemisphere asymmetries.

Antihuman Endogenous Retrovirus Immune Response and Adaptive Dysfunction in Autism.

ASD is a neurodevelopmental disorder of unknown aetiology but with a known contribution of pathogenic immune-mediated mechanisms. HERVs are associated with several neuropsychiatric diseases, including ASD. We studied anti-HERV-W, -K and -H-env immune profiles in ASD children to analyse differences between their respective mothers and child/mother control pairs and possible correlations to ASD severity and loss of adaptive abilities. Of the 84 studied individuals, 42 children (23 ASD and 19 neurotypical) and their paired mothers underwent clinical and neuropsychological evaluations. ASD severity was analysed with standardised tests. Adaptive functioning was studied with ABAS-II and GAC index. Plasma anti-env responses of HERV-K, -H and -W were tested with indirect ELISA. ASD and neurotypical children did not differ in age, gender, comorbidities and anti-HERV responses. In children with ASD, anti-HERV levels were not correlated to ASD severity, while a significant inverse correlation was found between anti-HERV-W-248-262 levels and adaptive/social abilities. Upregulation of anti-HERV-W response correlates to dysfunctional social and adaptive competences in ASD but not in controls, suggesting anti-HERV response plays a role in the appearance of peculiar ASD symptoms.

Atypical cognitive vergence responses in children with attention deficit hyperactivity disorder but not with autism spectrum disorder in a facial emotion recognition task

Facial expression of emotion is fundamental to human social interactions. Attention to relevant cues in ADHD and ASD patients are believed to underlie difficulties in recognizing emotions. Cognitive vergence eye movements during gaze fixation have a role in attention. Here we evaluate a possible role of cognitive vergence in facial emotion recognition. We recorded eye vergence from children with ADHD (n ​= ​27), ASD (n ​= ​18) or ADHD&ASD (n ​= ​15) and from neurotypical (NT; n ​= ​31) children during a facial emotion recognition task. Vergence responses to relevant stimuli were stronger than those to distractor stimuli. ADHD and ADHD&ASD children showed shorter gaze fixation duration and weaker cognitive vergence responses to the eye regions of the face stimuli compared to neurotypically developing children. In contrast, gaze behavior and vergence responses of ASD children resembled that of neurotypically developing children. These results provide evidence for the idea that impaired recognition of facial expression of emotion is a problem of attending the relevant cues to adequately recognize facial expressions. As ASD patients resembled that of NT, cognitive vergence represents an etiological difference between ADHD and ASD.

Home-quarantine during the initial Covid-19 outbreak in Israel: parent perceived impact on children with ASD.

BackgroundStudies have reported that Covid-19 home-quarantine periods have had mostly negative psychological impact on children with ASD and their families. Here we examined parent perceived impact of a 6-week quarantine period imposed in Israel at the beginning of the Covid-19 outbreak, in mid-March 2020.MethodsAn anonymous online questionnaire was completed by parents of 268 children with ASD. Parents rated deterioration/improvement in their child's behaviors, abilities, mood, sleep, and anxiety along with changes in their own mood, sleep, parenting skills, and family relationships. We performed t-tests and ANOVA analyses to assess the significance of perceived impact on each domain and potential differences in the impact across families with children of different ages, genders, and levels of required support as well as families that experienced different magnitudes of economic hardships.ResultsParents reported significant deterioration in their mood and sleep along with significant improvements in relationships with their spouse and child with ASD, and in their parenting skills. Parents also reported significant increases in the severity of tantrums, anxiety, and restricted and repetitive behavior symptoms along with significant improvements in social and communication abilities of their child with ASD. Ratings were significantly lower in families of ASD children who regularly require more support and in families that experienced economic hardships.ConclusionsWhile periods of home-quarantine create numerous hardships for families of children with ASD, they may also offer an opportunity for improving parenting skills, family relationships, and children's social communication abilities with potential relevance for improving remote services.

A QEEG Study on the Usage of Yellow Overlays for Reading among Autism Spectrum Disorder Children with Irlen Syndrome Symptoms

This research was carried out in order to compare the difference of brainwaves with and without using yellow overlays when reading among ASD children with the symptoms of Irlen Syndrome. The population from this research consists of sixteen children with chronological ages between six to fourteen years old from Kota Samarahan and Kuching, Sarawak. Quasi-experiments one group pre-test and post-test design was applied in this research. The participants completed the reading task using yellow and without yellow overlays. Subsequently, the QEEG was used to record and analyses the electrical activity in the Region of Interest (frontal and temporal). The analysis results on the paired sample t-test indicated the significant differences for beta brainwaves at frontal t (15) = -2.791, p = 0.014, and temporal area t (15) = -2.218, p = 0.042 while using yellow overlays. However, only the frontal area found significant differences for the alpha brainwaves when using yellow overlays t (15) = -2.428, p = 0.028. Apparently, the results of this research show that yellow overlays can help improve reading achievements and produce extra attention when reading more than without using yellow overlays among ASD children with the Irlen Syndrome symptoms.

Globally elevated excitation–inhibition ratio in children with autism spectrum disorder and below-average intelligence

BackgroundAltered neuronal excitation–inhibition (E–I) balance is strongly implicated in ASD. However, it is not known whether the direction and degree of changes in the E–I ratio in individuals with ASD correlates with intellectual disability often associated with this developmental disorder. The spectral slope of the aperiodic 1/f activity reflects the E–I balance at the scale of large neuronal populations and may uncover its putative alternations in individuals with ASD with and without intellectual disability.MethodsHerein, we used magnetoencephalography (MEG) to test whether the 1/f slope would differentiate ASD children with average and below–average (< 85) IQ. MEG was recorded at rest with eyes open/closed in 49 boys with ASD aged 6–15 years with IQ ranging from 54 to 128, and in 49 age-matched typically developing (TD) boys. The cortical source activity was estimated using the beamformer approach and individual brain models. We then extracted the 1/f slope by fitting a linear function to the log–log-scale power spectra in the high-frequency range.ResultsThe global 1/f slope averaged over all cortical sources demonstrated high rank-order stability between the two conditions. Consistent with previous research, it was steeper in the eyes-closed than in the eyes-open condition and flattened with age. Regardless of condition, children with ASD and below-average IQ had flatter slopes than either TD or ASD children with average or above-average IQ. These group differences could not be explained by differences in signal-to-noise ratio or periodic (alpha and beta) activity.LimitationsFurther research is needed to find out whether the observed changes in E–I ratios are characteristic of children with below-average IQ of other diagnostic groups.ConclusionsThe atypically flattened spectral slope of aperiodic activity in children with ASD and below-average IQ suggests a shift of the global E–I balance toward hyper-excitation. The spectral slope can provide an accessible noninvasive biomarker of the E–I ratio for making objective judgments about treatment effectiveness in people with ASD and comorbid intellectual disability.

Application of Quantitative Magnetic Resonance Imaging in the Diagnosis of Autism in Children.

ObjectiveTo explore the application of quantitative magnetic resonance imaging in the diagnosis of autism in children.MethodsSixty autistic children aged 2–3 years and 60 age- and sex-matched healthy children participated in the study. All the children were scanned using head MRI conventional sequences, 3D-T1, diffusion kurtosis imaging (DKI), enhanced T2*- weighted magnetic resonance angiography (ESWAN) and 3D-pseudo continuous Arterial Spin-Labeled (3D-pcASL) sequences. The quantitative susceptibility mapping (QSM), cerebral blood flow (CBF), and brain microstructure of each brain area were compared between the groups, and correlations were analyzed.ResultsThe iron content and cerebral blood flow in the frontal lobe, temporal lobe, hippocampus, caudate nucleus, substantia nigra, and red nucleus of the study group were lower than those in the corresponding brain areas of the control group (P < 0.05). The mean kurtosis (MK), radial kurtosis (RK), and axial kurtosis (AK) values of the frontal lobe, temporal lobe, putamen, hippocampus, caudate nucleus, substantia nigra, and red nucleus in the study group were lower than those of the corresponding brain areas in the control group (P < 0.05). The mean diffusivity (MD) and fractional anisotropy of kurtosis (FAK) values of the frontal lobe, temporal lobe and hippocampus in the control group were lower than those in the corresponding brain areas in the study group (P < 0.05). The values of CBF, QSM, and DKI in frontal lobe, temporal lobe and hippocampus could distinguish ASD children (AUC > 0.5, P < 0.05), among which multimodal technology (QSM, CBF, DKI) had the highest AUC (0.917) and DKI had the lowest AUC (0.642).ConclusionQuantitative magnetic resonance imaging (including QSM, 3D-pcASL, and DKI) can detect abnormalities in the iron content, cerebral blood flow and brain microstructure in young autistic children, multimodal technology (QSM, CBF, DKI) could be considered as the first choice of imaging diagnostic technology.Clinical Trial Registration[http://www.chictr.org.cn/searchprojen.aspx], identifier [ChiCTR2000029699].

Specificity of phonological representations in school-age high-functioning ASD children

Purpose: Well-specified phonological representations are important for the development of spoken and written language. This study investigates the types of speech errors and the quality of phonological representations in Greek-speaking school-age children with high-functioning autism spectrum disorder (HF-ASD), as well as the relationship between stored phonological representations and speech output in this sample, according to Stackhouse and Wells’ (1997) model. Method: All participants completed a phonological and a naming test, and a non-word repetition task. A receptive phonological task was administered to a subgroup of HF-ASD and typically developing (TD) participants. According to performance in the phonological test, the HF-ASD children were categorised as ASD with Speech Sound Disorder (SSD) or ASD without SSD. Result: The HF-ASD children made significantly more speech errors and showed significant difficulties in the repetition of non-words and the stored phonological representations compared to the TD group but had the same naming abilities with their TD peers. The ASD children with SSD and without SSD performed alike in the receptive task, indicating that both groups had unspecified phonological representations. Conclusion: These results support the hypothesis of distinct phonological representations for speech input and output and highlight the need of using receptive tasks to evaluate underlying phonological knowledge, a process which could allow clinicians to identify the level of speech breakdown.