Identifying Areas of Overlap and Distinction in Early Lexical Profiles of Children with Autism Spectrum Disorder, Late Talkers, and Typical Talkers.
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ABSTRACT:
SUBMITTER: Jimenez E
PROVIDER: S-EPMC8349327 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:PurposeLate talkers (LTs) are a group of children who exhibit delays in language development without a known cause. Although a hallmark of LTs is a reduced expressive vocabulary, little is known about LTs' processing of semantic relations among words in their emerging vocabularies. This study uses an eye-tracking task to compare 2-year-old LTs' and typical talkers' (TTs') sensitivity to semantic relationships among early acquired words.MethodU.S. monolingual English-speaking LTs (n = 21) and TTs (n = 24) completed a looking-while-listening task in which they viewed two images on a screen (e.g., a shirt and a pizza), while they heard words that referred to one of the images (e.g., Look! Shirt!; target-present condition) or a semantically related item (e.g., Look! Hat!; target-absent condition). Children's eye movements (i.e., looks to the target) were monitored to assess their sensitivity to these semantic relationships.ResultsBoth LTs and TTs looked longer at the semantically related image than the unrelated image on target-absent trials, demonstrating sensitivity to the taxonomic relationships used in the experiment. There was no significant group difference between LTs and TTs. Both groups also looked more to the target in the target-present condition than in the target-absent condition.ConclusionsThese results reveal that, despite possessing smaller expressive vocabularies, LTs have encoded semantic relationships in their receptive vocabularies and activate these during real-time language comprehension. This study furthers our understanding of LTs' emerging linguistic systems and language processing skills.Supplemental materialhttps://doi.org/10.23641/asha.23303987.
| S-EPMC10468120 | biostudies-literature
Project description:Vocabulary is a domain of particular challenge for many children with autism spectrum disorder (ASD). Recent research has drawn attention to ways in which lexical characteristics relate to vocabulary acquisition. The current study tested the hypothesis that lexical characteristics account for variability in vocabulary size of young children with ASD, applying the extended statistical learning theory of vocabulary delay in late talkers (Stokes, Kern, & Dos Santos, 2012) to toddlers with ASD.Parents reported the words produced by toddlers with ASD (n = 57; age 21-37 months) or toddlers without ASD (n = 41; age 22-26 months) on the MacArthur-Bates Communicative Development Inventories. The average phonological neighborhood density, word frequency, and word length of each toddler's lexicon were calculated. These lexical characteristics served as predictors of vocabulary size.Findings differed for toddlers with and without ASD and according to subsamples. Word length was the most consistent predictor of vocabulary size for toddlers with ASD.Distinct relationships between lexical characteristics and vocabulary size were observed for toddlers with and without ASD. Experimental studies on distributional cues to vocabulary acquisition are needed to inform what is known about mechanisms of learning in neurodevelopmental disorders.
| S-EPMC4126844 | biostudies-literature
Project description:The genetic basis for autism spectrum disorder (ASD) symptoms in children with attention-deficit/hyperactivity disorder (ADHD) was addressed using a genome-wide linkage approach.Participants of the International Multi-Center ADHD Genetics study comprising 1,143 probands with ADHD and 1,453 siblings were analyzed. The total and subscale scores of the Social Communication Questionnaire (SCQ) were used as quantitative traits for multipoint regression-based linkage analyses on 5,407 autosomal single-nucleotide polymorphisms applying MERLIN-regress software, both without and with inclusion of ADHD symptom scores as covariates.The analyses without ADHD symptom scores as covariates resulted in three suggestive linkage signals, i.e., on chromosomes 15q24, 16p13, and 18p11. Inclusion of ADHD symptom scores as covariates resulted in additional suggestive loci on chromosomes 7q36 and 12q24, whereas the LOD score of the locus on chromosome 15q decreased below the threshold for suggestive linkage. The loci on 7q, 16p, and 18p were found for the SCQ restricted and repetitive subscale, that on 15q was found for the SCQ communication subscale, and that on 12q for the SCQ total score.Our findings suggest that QTLs identified in this study are ASD specific, although the 15q QTL potentially has pleiotropic effects for ADHD and ASD. This study confirms that genetic factors influence ASD traits along a continuum of severity, as loci potentially underlying ASD symptoms in children with ADHD were identified even though subjects with autism had been excluded from the IMAGE sample, and supports the hypothesis that differential genetic factors underlie the three ASD dimensions.
| S-EPMC2929476 | biostudies-literature
Project description:ObjectiveThe sociocommunicative abnormalities of young children with Williams syndrome (WS) with limited language were compared with those of children with clinical diagnoses of autism, Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS), or nonspectrum developmental disability.MethodParticipants were 30 children with WS and individually matched groups of participants with autism (n = 28), PDD-NOS (n = 17), and mixed etiology nonspectrum developmental disabilities (n = 16). The autism, PDD-NOS, and mixed etiology groups were matched individually to the children with WS for age, sex, and developmental level. All participants were administered the Autism Diagnostic Observation Schedule Module 1 and the Mullen Scales of Early Learning.ResultsAs a group, children with WS with limited language showed fewer sociocommunicative abnormalities than children with autism, about the same level as children with PDD-NOS, and more abnormalities in reciprocity social interaction than participants in the mixed etiology group. Examination of the subgroup of participants with WS matched and compared with children with PDD-NOS indicated that half of the children showed fewer abnormalities than their individual matches with PDD-NOS, whereas half of the children with WS showed more abnormalities than their matches with PDD-NOS.ConclusionSociocommunicative difficulties are present for many children with WS and overlap with the autism spectrum. The results of this investigation suggest that these abnormalities are not accounted for by developmental delay alone, and care should be taken to avoid diagnostic overshadowing in young children with WS.
| S-EPMC2763277 | biostudies-literature
Project description:ObjectiveTo identify whether there exists a genetic correlation and causal relationship between 25(OH)D and autism spectrum disorder (ASD).MethodsBased on large-scale genome-wide association studies, a series of genetic approaches were adopted to obtain summary statistics. Using linkage disequilibrium score regression, we assessed the shared polygenic structure between traits and performed pleiotropic analysis under composite null hypothesis (PLACO) to identify pleiotropic loci between complex traits. A bidirectional Mendelian randomization (MR) analysis was applied to investigate whether there is a causal relationship between 25(OH)D and ASD.ResultsThe linkage disequilibrium score regression (LDSC) showed a negative genetic correlation between 25(OH)D and ASD (rg = - 0.227, P < 0.05), and PLACO analysis identified 20 independent pleiotropic loci matched to 24 pleiotropic genes, of which the function reveals an underlying mechanism on 25(OH)D and ASD. In Mendelian randomization analysis, the inverse variance-weighted (IVW) method with OR = 0.941 (0.796, 1.112) and p < 0.474 did not show a causal relationship between 25(OH)D and ASD, while, in the reverse Mendelian randomization analysis, IVW method showed OR = 1.042 (0.930, 1.169), indicating no causal relationship either.ConclusionThis study provides evidence for a shared genetic overlap between 25(OH)D and ASD. Bidirectional MR analysis also did not show a definite causal relationship between 25(OH)D and ASD.
| S-EPMC10134540 | biostudies-literature
Project description:Autism Spectrum Disorders (ASD) are neurodevelopmental disorders characterised by impaired social interaction and communication, restricted interests and repetitive behaviours. The severity of these characteristics are posited to lie on a continuum extending into the typical population, and typical adults' performance on behavioural tasks that are impaired in ASD is correlated with the extent to which they display autistic traits (as measured by Autism Spectrum Quotient, AQ). Individuals with ASD also show structural and functional differences in brain regions involved in social perception. Here we show that variation in AQ in typically developing individuals is associated with altered brain activity in the neural circuit for social attention perception while viewing others' eye gaze. In an fMRI experiment, participants viewed faces looking at variable or constant directions. In control conditions, only the eye region was presented or the heads were shown with eyes closed but oriented at variable or constant directions. The response to faces with variable vs. constant eye gaze direction was associated with AQ scores in a number of regions (posterior superior temporal sulcus, intraparietal sulcus, temporoparietal junction, amygdala, and MT/V5) of the brain network for social attention perception. No such effect was observed for heads with eyes closed or when only the eyes were presented. The results demonstrate a relationship between neurophysiology and autism spectrum traits in the typical (non-ASD) population and suggest that changes in the functioning of the neural circuit for social attention perception is associated with an extended autism spectrum in the typical population.
| S-EPMC3315678 | biostudies-literature
Project description:Psychological and mental health consequences of large-scale anti-contagion policies are assuming strong relevance in the COVID-19 pandemic. We proposed a specific focus on a large sample of children with Autism Spectrum Disorder (ASD), developing an ad hoc instrument to investigate changes occurred in specific (sub-)domains during a period of national lockdown (Italy). Our questionnaire, named AutiStress, is both context-specific (being set in the COVID-19 pandemic scenario) and condition-specific (being structured taking into account the autistic functioning peculiarities in the paediatric age). An age- and gender-matched group of neurotypical (TD) controls was also provided. As expected, the severe lockdown policies had a general negative impact both on ASD and TD children, reflecting the obvious burden of the pandemic situation. However, our findings also indicate that children with ASD experienced more positive changes than TD ones. Noteworthy, we report a thought-provoking double dissociation in the context-specific predictor (i.e., accessibility to private outdoor spaces), indicating that it impacts differently on the two groups. Focusing on the ASD group, results suggest a condition-specific impact of the COVID-19 pandemic on core autistic (sub-)domains. Taken together, our data call for a multi-layered, context- and condition-specific analysis of the pandemic burden beyond any oversimplification.
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Project description:Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders without any defined uniting pathophysiology. Ca2+ signaling is emerging as a potential node in the genetic architecture of the disorder. We previously reported decreased inositol trisphosphate (IP3)-mediated Ca2+ release from the endoplasmic reticulum in several rare monogenic syndromes highly comorbid with autism - fragile X and tuberous sclerosis types 1 and 2 syndromes. We now extend those findings to a cohort of subjects with sporadic ASD without any known mutations. We developed and applied a high throughput Fluorometric Imaging Plate Reader (FLIPR) assay to monitor agonist-evoked Ca2+ signals in human primary skin fibroblasts. Our results indicate that IP3 -mediated Ca2+ release from the endoplasmic reticulum in response to activation of purinergic receptors is significantly depressed in subjects with sporadic as well as rare syndromic forms of ASD. We propose that deficits in IP3-mediated Ca2+ signaling represent a convergent hub function shared across the spectrum of autistic disorders - whether caused by rare highly penetrant mutations or sporadic forms - and holds promise as a biomarker for diagnosis and novel drug discovery.
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Project description:Functional neurological disorders (FNDs) and autism spectrum disorders (ASDs) share common features in terms of deficits in emotion regulation and recognition, sensory sensitivity, proprioception and interoception. Nevertheless, few studies have assessed their overlap. We recruited 21 patients with FNDs, 30 individuals with ASDs without intellectual disabilities and 45 neurotypical adults (NA). Participants completed: the Autism Quotient (AQ); the Ritvo Autism Asperger Diagnostic Scale-Revised (RAADS-R); and a questionnaire assessing functional neurological symptoms (FNS). ASDs participants also completed the Sensory Perception Quotient-Short Form (SPQ-SF35), assessing sensory sensitivity. In the FNDs sample, no patient scored above the clinical cut-off at the AQ and the 19% scored above the cut-off at the RAADS-R, a prevalence similar to the one we found in NA (15.6%; both p > 0.05). The 86.7% of participants with ASDs reported at least one FNS, a prevalence significantly higher than the NA one (35.6%, p < 0.001). In the ASDs sample, tactile hypersensitivity was found to be a risk factor for functional weakness (OR = 0.74, p = 0.033) and paraesthesia (OR = 0.753, p = 0.019). In conclusions, FNDs individuals did not present autistic traits more than NA, but ASDs individuals presented a higher number of FNSs than NA; this rate was associated with higher sensory sensitivity, especially in the touch domain.
| S-EPMC9349073 | biostudies-literature
Project description:Disrupted cortical neural inhibition has been hypothesized to be a primary contributor to the pathophysiology of autism spectrum disorder (ASD). This hypothesis predicts that ASD will be associated with an increase in neural responses. We tested this prediction by comparing fMRI response magnitudes to simultaneous visual, auditory, and motor stimulation in ASD and neurotypical (NT) individuals. No increases in the initial transient response in any brain region were observed in ASD, suggesting that there is no increase in overall cortical neural excitability. Most notably, there were widespread fMRI magnitude increases in the ASD response following stimulation offset, approximately 6-8 s after the termination of sensory and motor stimulation. In some regions, the higher fMRI offset response in ASD could be attributed to a lack of an "undershoot"-an often observed feature of fMRI responses believed to reflect inhibitory processing. Offset response magnitude was associated with reaction times (RT) in the NT group and may explain an overall reduced RT in the ASD group. Overall, our results suggest that increases in neural responsiveness are present in ASD but are confined to specific components of the neural response, are particularly strong following stimulation offset, and are linked to differences in RT.
| S-EPMC7338757 | biostudies-literature