1. Chen X, Liu H, Wu Y, Xuan K, Zhao T, Sun Y. Characteristics of sleep architecture in autism spectrum disorders : A meta-analysis based on polysomnographic research. Psychiatry Res ;2020 (Dec 24) ;296:113677.

Eleven parameters recorded by polysomnography were used to evaluate the differences in sleep structure between individuals with autism spectrum disorders (ASDs) and typically developed individuals (TDs). Four databases (PubMed, Web of Science, Cochrane Library, and China National Knowledge Infrastructure (CNKI)) were searched for potentially relevant literature published before July 14, 2019. Data extraction was performed by two independent assessors. The Cohen’s d effect sizes and their 95% confidence intervals (CIs) were calculated to assess the effectiveness with the random-effects model. The heterogeneity was estimated by Cochran’s Q test. The research yielded 14 case-control studies, 11 of which were included in this meta-analysis. Synthesis of the differences in 11 sleep parameters between individuals with ASDs and TDs demonstrated the pooled effect size of Cohen’d was -0.52 (95% CI : (-0.97, -0.08)) for total sleep time (TST), -0.69 (95% CI : (-1.27, -0.11)) for sleep efficiency (SE%) and 0.93 (95% CI : (0.37, 1.48)) for stage 1 sleep (S1%), respectively. Our findings suggested that compared with TDs, individuals with ASDs tend to have a decreased TST and SE% and an increased S1%. Differences of characteristics of sleep architecture in other sleep parameters between individuals with ASDs and TDs were not found in this study.

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2. Eshraghi RS, Davies C, Iyengar R, Perez L, Mittal R, Eshraghi AA. Gut-Induced Inflammation during Development May Compromise the Blood-Brain Barrier and Predispose to Autism Spectrum Disorder. J Clin Med ;2020 (Dec 24) ;10(1)

Recently, the gut microbiome has gained considerable interest as one of the major contributors to the pathogenesis of multi-system inflammatory disorders. Several studies have suggested that the gut microbiota plays a role in modulating complex signaling pathways, predominantly via the bidirectional gut-brain-axis (GBA). Subsequent in vivo studies have demonstrated the direct role of altered gut microbes and metabolites in the progression of neurodevelopmental diseases. This review will discuss the most recent advancements in our understanding of the gut microbiome’s clinical significance in regulating blood-brain barrier (BBB) integrity, immunological function, and neurobiological development. In particular, we address the potentially causal role of GBA dysregulation in the pathophysiology of autism spectrum disorder (ASD) through compromising the BBB and immunological abnormalities. A thorough understanding of the complex signaling interactions between gut microbes, metabolites, neural development, immune mediators, and neurobiological functionality will facilitate the development of targeted therapeutic modalities to better understand, prevent, and treat ASD.

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3. Ganesh A, Shareef S. Safety and Efficacy of Cannabis in Autism Spectrum Disorder. Pediatr Neurol Briefs ;2020 (Dec 24) ;34:25.

Investigators from the Soroka University Medical Centre, The Hebrew University of Jerusalem, and Tikun Olam Ltd. in Israel studied the safety and efficacy of medical cannabis treatment on 188 patients with autism spectrum disorder (ASD) for six months.

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4. Kind LS, Aartman IHA, van Gemert-Schriks MCM, Bonifacio CC. Parents’ satisfaction on dental care of Dutch children with Autism Spectrum Disorder. Eur Arch Paediatr Dent ;2020 (Dec 24)

PURPOSE : To assess if Dutch children with Autism Spectrum Disorder (ASD) regularly visit a dentist and to evaluate parent’s satisfaction on the care provided. METHODS : Parents of ASD children (2-18 years) were invited to fill out a survey. The survey consisted of questions regarding ASD severity, frequency of dental visits, history of dental pain, type of dental practice and parents’ satisfaction. Results were analysed using Chi square and Mann-Whitney U tests (α = 5%). RESULTS : Of the 246 returned questionnaires, 19 were excluded (incomplete or unconfirmed ASD diagnosis). All children visited a dentist at least once and 5% of them had their last visit more than 12 months ago. According to parents, 15% of the children did not receive the needed care when they had toothache and 21% of the parents were unsatisfied with the current dental care provided. No difference was found between satisfied and unsatisfied parents in type of dental practice visited (p > 0.05). The children of unsatisfied parents reported more often pain during the last year (p = 0.013) and had a more severe type of ASD (p = 0.016). CONCLUSIONS : The majority of Dutch ASD children investigated regularly visit a dentist and 21% of the parents is unsatisfied with the dental care provided.

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5. Kopp N, Amarillo I, Martinez-Agosto J, Quintero-Rivera F. Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder : Clinical, cytogenetic, and molecular characterization. Am J Med Genet A ;2020 (Dec 24):e62025.

Neuroligin 4 X-linked (NLGN4X) is an X-linked postsynaptic scaffolding protein, with functional role in excitatory synapsis development and maintenance, that has been associated with neuropsychiatric disorders such as intellectual disability, autism spectrum disorders (ASD), anxiety, attention deficit hyperactivity disorder (ADHD), and Tourette’s syndrome. Chromosomal microarray analysis identified a paternally inherited, 445 Kb deletion on Xp22.3 that includes the entire NLGN4X in a 2.5 year old female (46,XX) with congenital hypotonia, strabismus, ASD, and increased aggressive behavioral issues. Her family history is significant for a mother with learning disabilities, a father with anxiety, major depressive disorder, and substance abuse, as well as two maternal half-brothers with developmental delays. X-inactivation studies in the proband’s blood showed random X-inactivation despite the presence of an abnormal X chromosome. Furthermore, trio exome sequencing did not reveal any other deleterious variant that could explain her phenotype. Our report describes the first example of a paternally inherited NLGN4X microdeletion as the genetic etiology of ASD in a female proband, and the psychiatric phenotypes in the father. It also provides further evidence that NLGN4X is sensitive to dosage changes in females, and can contribute to a variety of psychiatric features within the same family.

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6. Liu J, Tsang T, Ponting C, Jackson L, Jeste SS, Bookheimer SY, Dapretto M. Lack of neural evidence for implicit language learning in 9-month-old infants at high risk for autism. Dev Sci ;2020 (Dec 24):e13078.

Word segmentation is a fundamental aspect of language learning, since identification of word boundaries in continuous speech must occur before the acquisition of word meanings can take place. We previously used functional magnetic resonance imaging (fMRI) to show that youth with autism spectrum disorder (ASD) are less sensitive to statistical and speech cues that guide implicit word segmentation. However, little is known about the neural mechanisms underlying this process during infancy and how this may be associated with ASD risk. Here, we examined early neural signatures of language-related learning in 9-month-old infants at high (HR) and low familial risk (LR) for ASD. During natural sleep, infants underwent fMRI while passively listening to three speech streams containing strong statistical and prosodic cues, strong statistical cues only, or minimal statistical cues to word boundaries. Compared to HR infants, LR infants showed greater activity in the left amygdala for the speech stream containing statistical and prosodic cues. While listening to this same speech stream, LR infants also showed more learning-related signal increases in left temporal regions as well as increasing functional connectivity between bilateral primary auditory cortex and right anterior insula. Importantly, learning-related signal increases at 9 months positively correlated with expressive language outcome at 36 months in both groups. In the HR group, greater signal increases were additionally associated with less severe ASD symptomatology at 36 months. These findings suggest that early differences in the neural networks underlying language learning may predict subsequent language development and altered trajectories associated with ASD risk.

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7. Mizukami M, Ishikawa A, Miyazaki S, Tsuzuki A, Saito S, Niihori T, Sakurai A. A de novo CHD3 variant in a child with intellectual disability, autism, joint laxity, and dysmorphisms. Brain Dev ;2020 (Dec 24)

BACKGROUND : Chromodomain helicase DNA-binding (CHD) proteins play important roles in developmental processes. CHD3, a member of the CHD family of proteins, was reported to be a cause of a neurodevelopmental syndrome by Snijders Blok et al., but only a small number of probands have been reported. CASE REPORT : The patient was a 9-year-old female with severe intellectual disability, speech impairment, autism, joint laxity and dysmorphisms. Whole exome sequencing revealed a de novo missense variant in CHD3 (NM_001005273:exon18 : c.2896C > T:p.R966W). CONCLUSION : We report a case with a pathogenic variant in the CHD3 gene. Our report indicates that CHD3 analysis is helpful for diagnosis of the cases with neurodevelopmental disorders, joint laxity, and coarse facial phenotype.

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8. Yu X, Qian-Qian L, Cong Y, Xiao-Bing Z, Hong-Zhu D. Reduction of essential amino acid levels and sex-specific alterations in serum amino acid concentration profiles in children with autism spectrum disorder. Psychiatry Res ;2020 (Dec 24) ;297:113675.

BACKGROUND : Existing evidence has shown that metabolic disturbances may be involved in the pathological process of autism spectrum disorder(ASD). This study aimed to investigate the alterations of serum amino acid concentration profiles in Chinese Han children with ASD. METHODS : Serum amino acid levels were measured using tandem mass spectrometry in 60 children with ASD and 30 typically developing (TD) controls. The Chinese Wechsler Young Children Scale of Intelligence (C-WYCSI) was used to evaluate the ASD subjects’ intelligence quotient (IQ). RESULTS : The serum levels of essential amino acids and some non-essential amino acids (glutamine, glycine, alanine, citrulline, cysteine, serine, tyrosine, and proline) in the ASD group were significantly lower than those in controls. The serum glutamate/glutamine (Glu/Gln) ratio was elevated in the ASD PIQ≥70 group, while serum levels of alanine, cysteine, phenylalanine, methionine and proline were significantly higher in male children with ASD than that in the female group. CONCLUSION : The study revealed that children with ASD exhibit alterations in the serum levels of certain amino acids, and the divergence can be sex-related or associated with different cognitive function, which might provide clues for further etiological research of ASD.

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9. Zheng Y, Verhoeff TA, Perez Pardo P, Garssen J, Kraneveld AD. The Gut-Brain Axis in Autism Spectrum Disorder : A Focus on the Metalloproteases ADAM10 and ADAM17. Int J Mol Sci ;2020 (Dec 24) ;22(1)

Autism Spectrum Disorder (ASD) is a spectrum of disorders that are characterized by problems in social interaction and repetitive behavior. The disease is thought to develop from changes in brain development at an early age, although the exact mechanisms are not known yet. In addition, a significant number of people with ASD develop problems in the intestinal tract. A Disintegrin And Metalloproteases (ADAMs) include a group of enzymes that are able to cleave membrane-bound proteins. ADAM10 and ADAM17 are two members of this family that are able to cleave protein substrates involved in ASD pathogenesis, such as specific proteins important for synapse formation, axon signaling and neuroinflammation. All these pathological mechanisms are involved in ASD. Besides the brain, ADAM10 and ADAM17 are also highly expressed in the intestines. ADAM10 and ADAM17 have implications in pathways that regulate gut permeability, homeostasis and inflammation. These metalloproteases might be involved in microbiota-gut-brain axis interactions in ASD through the regulation of immune and inflammatory responses in the intestinal tract. In this review, the potential roles of ADAM10 and ADAM17 in the pathology of ASD and as targets for new therapies will be discussed, with a focus on the gut-brain axis.

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