Pubmed du 17/11/24
1. Byrne K, Sterrett K, Lord C. Examining the Transition from Single Words to Phrase Speech in Children with ASD: A Systematic Review. Clin Child Fam Psychol Rev. 2024.
« Functional speech » by 5 years of age is widely established as increasing the probability of long-term positive outcomes across a range of domains for autistic individuals. While terms such as « functional » or « useful » speech are often used, what defines these terms is not well established. Furthermore, most research focusing on language development has emphasized the transition from little or no language to use of single words, but much less is known about the transition from single words to phrase speech, which could be equally important. The verb lexicon is foundational to the development of simple, generative phrases and has been linked to prosocial behaviors and general developmental outcomes including better social communication skills, socioemotional reciprocity, and nonverbal communication in autistic children. The current systematic review synthesized information from 20 independent samples to characterize autistic children who transitioned from single words to phrase speech. On average, 48% of the pooled sample transitioned to phrase speech during the study periods. Results were highly variable across studies. Participants under the age of 5 years were more likely to transition to phrases than participants over the age of 5. Though average standard scores were above 50, children who transitioned to phrases generally demonstrated below average adaptive and cognitive skills and moderate-high ASD symptomatology. Variable measures of cognition made it difficult to ascertain patterns in cognitive skills; nonetheless, nonverbal IQ emerged as a salient predictor of the transition to phrases across studies. More research is needed to better understand who transitions beyond single words, clinical benchmarks on the way to generative phrase speech and the factors that predict this transition. Such information can be used to inform clinical decision making and develop or improve targeted interventions based on individual communication profiles. This could make the use of phrases more likely for a greater number of autistic individuals, increasing the likelihood that these individuals communicate independently and effectively with others.
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2. Kumari D, Grant-Bier J, Kadyrov F, Usdin K. Intersection of the fragile X-related disorders and the DNA damage response. DNA Repair (Amst). 2024; 144: 103785.
The Repeat Expansion Diseases (REDs) are a large group of human genetic disorders that result from an increase in the number of repeats in a disease-specific tandem repeat or microsatellite. Emerging evidence suggests that the repeats trigger an error-prone form of DNA repair that causes the expansion mutation by exploiting a limitation in normal mismatch repair. Furthermore, while much remains to be understood about how the mutation causes pathology in different diseases in this group, there is evidence to suggest that some of the downstream consequences of repeat expansion trigger the DNA damage response in ways that contribute to disease pathology. This review will discuss these subjects in the context of the Fragile X-related disorders (aka the FMR1 disorders) that provide a particularly interesting example of the intersection between the repeats and the DNA damage response that may also be relevant for many other diseases in this group.
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3. Rahmani Z, Rahmani D, Jazi MS, Ghasemi MR, Sadeghi H, Miryounesi M, Razjouyan K, Fayyazi Bordbar MR. Altered expression of Csnk1a1p in Autism Spectrum Disorder in Iranian population: case-control study. Sci Rep. 2024; 14(1): 28307.
Over the past decade, substantial scientific evidence has showed that long non-coding RNAs (lncRNAs) are extensively expressed and play a crucial role in gene modulation through a diverse range of transcriptional, and post-transcriptional mechanisms. Recent discoveries have emphasized the involvement of lncRNAs in maintaining cellular homeostasis and neurogenesis in the brain. Accumulating reports identified dysregulated lncRNAs associated with psychiatric disorders, including autism. In this study, we examined the expression levels of DISC2, Linc00945, Foxg1-as1, Csnk1a1p, and Evf2 lncRNAs in blood samples from 21 clinically diagnosed autistic patients based on the Diagnostic and Statistical Manual of Mental Disorders criteria-5th edition (DSM-5), compared to age, sex, and ethnically-matched 25 healthy individuals. RNA extraction and cDNA synthesis were performed, followed by real-time PCR for quantification of lncRNAs expression levels. Receiver operating characteristic (ROC) curve analysis was used to evaluate biomarker potential. Additionally, we investigated the correlation between gene expression levels and autism comorbidities. Our results showed a significant decrease in Csnk1a1p expression in patients with autism spectrum disorder (ASD) compared to healthy children (P value = 0.0008). ROC curve analysis indicated that Csnk1a1p expression levels could effectively discriminate patients from healthy controls (AUC = 0.837, P value = 0.000284). No significant differences were observed between Csnk1a1p expression levels and comorbidity with ADHD or intellectual disability (p-value > 0.05). Based on these findings, Csnk1a1p may play a significant role in autistic patients and could serve as a potential biomarker for diagnostic and predictive purposes, as well as a therapeutic target.
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4. Saechua C, Sarachana T, Chonchaiya W, Trairatvorakul P, Yuwattana W, Poolcharoen C, Sangritdech M, Saeliw T, van Erp ML, Sangsuthum S, Akarapredee N, Tipnoppanon S, Sukprasong R, Satapornpong P, Atasilp C, Sukasem C, Vanwong N. Impact of gene polymorphisms involved in the vitamin D metabolic pathway on the susceptibility to and severity of autism spectrum disorder. Sci Rep. 2024; 14(1): 28333.
This study explores the association between genetic variations in the vitamin D pathway and autism spectrum disorder (ASD) susceptibility and severity in Thai children. A total of 276 participants, including 169 children with ASD and 107 healthy controls, were recruited. Genotyping of vitamin D pathway genes (CYP2R1, CYP27B1, GC, and VDR) was conducted using TaqMan-based real-time PCR, while serum vitamin D levels were measured by chemiluminescence immunoassay. ASD severity was assessed via the Childhood Autism Rating Scale, 2nd Edition. Results reveal that the VDR gene (ApaI) rs7975232 is linked to a reduced ASD risk. In contrast, the GC gene rs7041 (A > C) polymorphism shows a significant association with increased ASD risk and severity, particularly in individuals with both the GC gene polymorphism and vitamin D insufficiency. Additionally, there was a higher prevalence of the GC1s isoform and GC1s-GC1s haplotype in children with ASD, associated with ASD severity. This study identified that individuals possessing GC rs7041 C alleles and the GC1s genotype (rs7041C/rs4588G) exhibit an increased susceptibility to and more severity of ASD. Further studies with larger cohorts are essential to fully understand these genetic polymorphisms’ roles.
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5. Zhang L, Geng C, Li S, Tang Q, Liu P, Liu W, Qiu G, Li A, Hu A, Chen F. Anterior piriform cortex dysfunction underlies autism spectrum disorders-related olfactory deficits in Fmr1 conditional deletion mice. Neuropsychopharmacology. 2024.
Previous studies indicated that ASD-related olfactory dysfunctions are rooted in the piriform cortex. However, the direct evidence supporting a causal link between the dysfunction of the piriform cortex and olfactory disorders in ASD is limited. In the present study, we explored the role of anterior piriform cortex (aPC) in ASD-related olfactory disorders by specifically ablating Fmr1, a leading known monogenic cause for ASD, in the pyramidal neurons. Our data demonstrated that the targeted deletion of Fmr1 in aPC pyramidal neurons was sufficient to induce deficits in olfactory detection. In vivo and in vitro electrophysiological recordings showed that the deletion of Fmr1 increased the activity of pyramidal neurons, exhibiting an enhanced excitatory response and a reduced inhibitory response upon odor stimulation. Furthermore, specific deletion of Fmr1 enhanced the power of beta oscillations during odor stimuli, meanwhile, disturbed excitatory and inhibitory synaptic transmission. The abnormal morphology of pyramidal neurons induced by the deletion of Fmr1 may be responsible for the impaired aPC neuronal function. These findings suggest that dysfunction of the aPC may play a role in olfactory impairments observed in ASD models related to Fmr1 deficiency.
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6. Zhu JS, Gong Q, Zhao MT, Jiao Y. Atypical brain network topology of the triple network and cortico-subcortical network in autism spectrum disorder. Neuroscience. 2024.
The default mode network (DMN), salience network (SN), and central executive control network (CEN) form the well-known triple network, providing a framework for understanding various neurodevelopmental and psychiatric disorders. However, the topology of this network remains unclear in autism spectrum disorder (ASD). To gain a more profound understanding of ASD, we explored the topology of the triple network in ASD. Additionally, the striatum and thalamus are pivotal centres of information transmission within the brain, and the realization of various brain functions requires the coordination of cortical and subcortical structures. Therefore, we also investigated the topology of the cortico-subcortical network in ASD, which consists of the DMN, SN, CEN, striatum, and thalamus. Resting-state functional magnetic resonance imaging data on 208 ASD patients and 278 typically developing (TD) controls (8-18 years old) were obtained from the Autism Brain Imaging Data Exchange database. We performed graph theory analysis on the triple network and the cortico-subcortical network. The results showed that the triple network’s clustering coefficient, lambda, and network local efficiency values were significantly lower in ASD, and the nodal degree and efficiency of the medial prefrontal cortex also decreased. For the cortico-subcortical network, the sigma, clustering coefficient, gamma, and network local efficiency showed the same reduction, and the altered clustering coefficient negatively correlated with ASD manifestations. In addition, the interaction between the DMN and CEN was more robust in ASD patients. These findings enhance our understanding of ASD and suggest that subcortical structures should be more considered in future ASD related studies.
