1. Araújo Sarmento J, Valadas LAR, Sousa J, Gualberto AVS, Rodrigues L, Guimarães AS. Development and application of a questionnaire to evaluate signs of temporomandibular disorder observed by caregivers of children with autism spectrum disorder. Spec Care Dentist;2022 (Aug 14)

OBJECTIVE: This study aimed to develop and validate a questionnaire to detect signs of temporomandibular disorders (TMD), verifying whether the perception of signs observed by caregivers of non-verbal autistic children are the same as those observed by caregivers of verbal ones. METHODS: This is a cross-sectional, exploratory and analytical study. The sample consisted of forty individuals with Autism Spectrum Disorders (ASD), thirty non-verbal and ten verbal, besides their respective caregivers. For this, an experimental questionnaire was applied and compared to the European Academy of Orofacial Pain (EAOP) questionnaire, which is already validated and widely used throughout the world. All responses were compared using the chi-square test and the questionnaires were compared with the McNemar test, considering p < .05. RESULTS: When comparing the number of coincident responses to the questionnaire between caregivers and children, the mean was 8.2 ± 1.61 responses. After performing the binomial test, no statistically significant discrepancy was found between the results of the two tests adopted when the questionnaires were compared (Mc Nemar test, p > .05) CONCLUSION: The development of this questionnaire and its validation serve as a support for health professionals in the TMD area, for the detection of TMD in non-verbal autistic children, providing them and their caregivers, who are faced with several difficulties in their day-by-day, a facilitating instrument.

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2. Curatolo P, Specchio N, Aronica E. Advances in the genetics and neuropathology of tuberous sclerosis complex: edging closer to targeted therapy. Lancet Neurol;2022 (Sep);21(9):843-856.

Tuberous sclerosis complex is a rare genetic disease associated with mutations in the TSC1 or TSC2 genes, which cause overactivation of the mTOR complex. In the past 5 years, understanding has increased of the cellular consequences of TSC1 and TSC2 genetic variants and the mTORC1 overactivation in neurons and glial cells and their contribution to network dysfunction. Infants and young children (aged 1-5 years) with tuberous sclerosis complex might now benefit from early assessment of gene variant status and mosaicism. In the past 5 years, substantial advances have also been made in our understanding of mTOR-related neuropathology and the molecular aspects of both epileptogenesis and co-occurring neurodevelopmental disorders. Many potential disease-modifying strategies have been identified, including developments in targeted therapies based on molecular findings in epilepsy. Reliable EEG and MRI biomarkers are now available to identify, at a younger age than previously possible, infants with tuberous sclerosis complex who are at risk of epilepsy, autism, and developmental delay. Vigabatrin has been used successfully as a treatment in infants with tuberous sclerosis complex who showed abnormalities on EEG before seizure onset. The scope for mitigation of tuberous sclerosis complex-associated symptoms has expanded, including the use of mTOR inhibitors such as sirolimus and everolimus. Close cooperation between clinical and basic neuroscientists has provided new opportunities for future advances.

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3. Krishnappa Babu PR, Di Martino JM, Chang Z, Perochon S, Aiello R, Carpenter KLH, Compton S, Davis N, Franz L, Espinosa S, Flowers J, Dawson G, Sapiro G. Complexity analysis of head movements in autistic toddlers. J Child Psychol Psychiatry;2022 (Aug 14)

BACKGROUND: Early differences in sensorimotor functioning have been documented in young autistic children and infants who are later diagnosed with autism. Previous research has demonstrated that autistic toddlers exhibit more frequent head movement when viewing dynamic audiovisual stimuli, compared to neurotypical toddlers. To further explore this behavioral characteristic, in this study, computer vision (CV) analysis was used to measure several aspects of head movement dynamics of autistic and neurotypical toddlers while they watched a set of brief movies with social and nonsocial content presented on a tablet. METHODS: Data were collected from 457 toddlers, 17-36 months old, during their well-child visit to four pediatric primary care clinics. Forty-one toddlers were subsequently diagnosed with autism. An application (app) displayed several brief movies on a tablet, and the toddlers watched these movies while sitting on their caregiver’s lap. The front-facing camera in the tablet recorded the toddlers’ behavioral responses. CV was used to measure the participants’ head movement rate, movement acceleration, and complexity using multiscale entropy. RESULTS: Autistic toddlers exhibited significantly higher rate, acceleration, and complexity in their head movements while watching the movies compared to neurotypical toddlers, regardless of the type of movie content (social vs. nonsocial). The combined features of head movement acceleration and complexity reliably distinguished the autistic and neurotypical toddlers. CONCLUSIONS: Autistic toddlers exhibit differences in their head movement dynamics when viewing audiovisual stimuli. Higher complexity of their head movements suggests that their movements were less predictable and less stable compared to neurotypical toddlers. CV offers a scalable means of detecting subtle differences in head movement dynamics, which may be helpful in identifying early behaviors associated with autism and providing insight into the nature of sensorimotor differences associated with autism.

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4. Li M, Wang Y, Tachibana M, Rahman S, Kagitani-Shimono K. Atypical structural connectivity of language networks in autism spectrum disorder: A meta-analysis of diffusion tensor imaging studies. Autism Res;2022 (Sep);15(9):1585-1602.

Patients with autism spectrum disorder (ASD) often show pervasive and complex language impairments that are closely associated with aberrant structural connectivity of language networks. However, the characteristics of white matter connectivity in ASD have remained inconclusive in previous diffusion tensor imaging (DTI) studies. The current meta-analysis aimed to comprehensively elucidate the abnormality in language-related white matter connectivity in individuals with ASD. We searched PubMed, Web of Science, Scopus, and Medline databases to identify relevant studies. The standardized mean difference was calculated to measure the pooled difference in DTI metrics in each tract between the ASD and typically developing (TD) groups. The moderating effects of age, sex, language ability, and symptom severity were investigated using subgroup and meta-regression analysis. Thirty-three DTI studies involving 831 individuals with ASD and 836 TD controls were included in the meta-analysis. ASD subjects showed significantly lower fractional anisotropy or higher mean diffusivity across language-associated tracts than TD controls. These abnormalities tended to be more prominent in the left language networks than in the right. In addition, children with ASD exhibit more pronounced and pervasive disturbances in white matter connectivity than adults. These results support the under-connectivity hypothesis and demonstrate the widespread abnormal microstructure of language-related tracts in patients with ASD. Otherwise, white matter abnormalities in the autistic brain could vary depending on the developmental stage and hemisphere. LAY SUMMARY: This meta-analysis explored abnormalities in white matter connectivity in language networks of individuals with ASD. Significantly reduced white matter integrity was found in all language-associated tracts in subjects with ASD compared with TD controls. In addition, structural disturbances of language networks in the autistic brain exhibit a leftward tendency, and more prominent abnormalities are observed in younger people with ASD than in adults.

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5. Li Y, Sun C, Guo Y, Qiu S, Liu Y, Zhong W, Wang H, Cheng Y. DIP2C polymorphisms are implicated in susceptibility and clinical phenotypes of autism spectrum disorder. Psychiatry Res;2022 (Oct);316:114792.

BACKGROUND: Disco-interacting protein 2 C (DIP2C) has recently been reported as a new susceptibility gene for autism spectrum disorder (ASD) in a genome-wide association study. METHODS: We evaluated associations between single nucleotide polymorphisms (SNPs) of DIP2C and ASD susceptibility in a case-control study (715 ASD cases and 728 controls) from Chinese Han. RESULTS: We identified a significant association between SNPs (rs3740304, rs2288681, rs7088729, rs4242757, rs10795060, and rs10904083) and ASD susceptibility. Of note, rs3740304, rs2288681, and rs7088729 are positively associated with ASD under inheritance models; moreover, haplotypes with any two marker SNPs (rs3740304 [G], rs2288681 [C], rs7088729 [T], rs4242757 [C], rs10795060 [G], and rs10904083 [A]) are also significantly associated with ASD. Additionally, rs10795060 and rs10904083 are associated with « visual reaction » phenotypes of ASD. CONCLUSIONS: DIP2C polymorphisms sort out the susceptibility and clinical phenotypes of autism spectrum disorder.

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6. Williams LA, LaSalle JM. Future Prospects for Epigenetics in Autism Spectrum Disorder. Mol Diagn Ther;2022 (Aug 13)

Despite decades of investigation into the genetics of autism spectrum disorder (ASD), a current consensus in the field persists that ASD risk is too heterogeneous to be diagnosed by a single set of genetic variants. As such, ASD research has broadened to include assessment of other molecular biomarkers implicated in the condition that may be reflective of environmental exposures or gene by environment interactions. Epigenetic variance, and specifically differential DNA methylation, have emerged as areas of particularly high interest to ASD, as the epigenetic markers from specific chromatin loci collectively can reflect influences of multiple genetic and environmental factors and can also result in differential gene expression patterns. This review examines recent studies of the ASD epigenome, detailing common gene pathways found to be differentially methylated in people with ASD, and considers how these discoveries may inform our understanding of ASD etiology. We also consider future applications of epigenetics in ASD research and clinical practice, focusing on substratification, biomarker development, and experimental preclinical models of ASD that test causality. In combination with other -omics approaches, epigenomics allows an improved conceptualization of the multifactorial nature of ASD, and opens future lines of inquiry for both basic research and clinical practice.

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