Pubmed du 22/12/21
1. Bae S, Yang A, Kim J, Lee HJ, Park HK. Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review. BMC medical genomics. 2021; 14(1): 297.
BACKGROUND: Arboleda-Tham syndrome (ARTHS), caused by a pathogenic variant of KAT6A, is an autosomal dominant inherited genetic disorder characterized by various degrees of developmental delay, dysmorphic facial appearance, cardiac anomalies, and gastrointestinal problems. CASE PRESENTATION: A baby presented multiple facial deformities including a high arched and cleft palate, with philtral ridge and vermilion indentation, a prominent nasal bridge, a thin upper lip, low-set ears, an epicanthal fold, and cardiac malformations. Whole exome sequencing (WES) revealed a heterozygous nonsense mutation in exon 8 of the KAT6A gene (c.1312C>T, p.[Arg438*]) at 2 months of age. After a diagnosis of ARTHS, an expressive language delay was observed during serial assessments of developmental milestones. CONCLUSIONS: In this study, we describe a case with a novel KAT6A variant first identified in Korea. This case broadens the scope of clinical features of ARTHS and emphasizes that WES is necessary for early diagnosis in patients with dysmorphic facial appearances, developmental delay, and other congenital abnormalities.
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2. Choe KY, Bethlehem RAI, Safrin M, Dong H, Salman E, Li Y, Grinevich V, Golshani P, DeNardo LA, Peñagarikano O, Harris NG, Geschwind DH. Oxytocin normalizes altered circuit connectivity for social rescue of the Cntnap2 knockout mouse. Neuron. 2022; 110(5): 795-808.e6.
The neural basis of abnormal social behavior in autism spectrum disorders (ASDs) remains incompletely understood. Here we used two complementary but independent brain-wide mapping approaches, mouse resting-state fMRI and c-Fos-iDISCO+ imaging, to construct brain-wide activity and connectivity maps of the Cntnap2 knockout (KO) mouse model of ASD. At the macroscale level, we detected reduced functional coupling across social brain regions despite general patterns of hyperconnectivity across major brain structures. Oxytocin administration, which rescues social deficits in KO mice, strongly stimulated many brain areas and normalized connectivity patterns. Notably, chemogenetically triggered release of endogenous oxytocin strongly stimulated the nucleus accumbens (NAc), a forebrain nucleus implicated in social reward. Furthermore, NAc-targeted approaches to activate local oxytocin receptors sufficiently rescued their social deficits. Our findings establish circuit- and systems-level mechanisms of social deficits in Cntnap2 KO mice and reveal the NAc as a region that can be modulated by oxytocin to promote social interactions.
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3. Hage SVR, Sawasaki LY, Hyter Y, Fernandes FDM. Social Communication and pragmatic skills of children with Autism Spectrum Disorder and Developmental Language Disorder. CoDAS. 2021; 34(2): e20210075.
PURPOSE: to assess the pragmatic and social communicative abilities of children with Typical Language Development (TLD), Autism Spectrum disorder (ASD) and Developmental Language Disorder (DLD). METHODS: Participants were 40 parents and 29 teachers of 40 children ages between 3 and 6 years. Ten children had DLD, ten had ASD and 20 had typical development. All participants answered to the questionnaire of the « Assessment of Pragmatic Language and Social Communication – APLSC – parent and professional reports – beta research version. Data were submitted to statistical analysis. RESULTS: The assessment tool was useful in identifying the difference in performance of children with different social communicative profiles. CONCLUSION: Children with ASD presented social and pragmatic impairments that were more significant than those presented by children with DLD. However, both children with ASD and with DLD presented more social pragmatic difficulties than children with TLD.
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4. Jendraszak M, Gałęcka M, Kotwicka M, Regdos A, Pazgrat-Patan M, Andrusiewicz M. Commercial microbiota test revealed differences in the composition of intestinal microorganisms between children with autism spectrum disorders and neurotypical peers. Scientific reports. 2021; 11(1): 24274.
The early-life modifications of intestinal microbiota may impact children’s subsequent emotional and cognitive development. Studies show that some bacteria species in gut microbiota, and the lack of others, may play a key role in autism spectrum disorders (ASD) development. Fecal samples were obtained from three groups of children: 16 healthy, 24 with allergies (ALG), and 33 with ASD (probiotics and non-probiotics users). The analysis was carried out according to the KyberKompakt Pro protocol. We observed a significantly higher level of Klebsiella spp. in the healthy children from the non-probiotics group, considering three groups. In the same group, Bifidobacterium spp. the level was lower in ASD compared to neurotypical individuals. In healthy children who did not use probiotics, strong positive correlations were observed in E. coli and Enterococcus spp. and Bacteroides and Klebsiella spp., and a negative correlation for Akkermansia muciniphila with both Klebsiella spp. and Bacteroides spp. In the ASD group who take probiotics, a strongly negative correlation was observed in Lactobacillus spp., and both Faecalibacterium prausnitzii and Akkermansia muciniphila levels. In the ALG group, the strongest, negative correlation was found between Enterococcus spp. and Lactobacillus spp. as in Akkermansia muciniphila and Bifidobacterium spp. The simple commercial test revealed minor differences in the composition of intestinal microorganisms between children with autism spectrum disorders and neurotypical peers.
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5. Kirst S, Bögl K, Gross VL, Diehm R, Poustka L, Dziobek I. Subtypes of Aggressive Behavior in Children with Autism in the Context of Emotion Recognition, Hostile Attribution Bias, and Dysfunctional Emotion Regulation. Journal of autism and developmental disorders. 2021.
The causes of aggressive behavior in children with autism are poorly understood, which limits treatment options. Therefore, this study used behavioral testing and parent reports of 60 children with autism to investigate the interplay of emotion misinterpretation and hostile attribution bias in the prediction of different aggressive behaviors. Further, the additional impact of dysfunctional emotion regulation was examined. Path analyses indicated that hostile attribution bias increased verbal and covert aggression but not physical aggression and bullying. Dysfunctional emotion regulation had an additional impact on bullying, verbal aggression, and covert aggression. Emotion recognition was positively associated with hostile attribution bias. These findings provide a first insight into a complex interplay of socio-emotional variables; longitudinal studies are needed to examine causal relationships.
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6. Lou M, Cao A, Jin C, Mi K, Xiong X, Zeng Z, Pan X, Qie J, Qiu S, Niu Y, Liang H, Liu Y, Chen L, Liu Z, Zhao Q, Qiu X, Jin Y, Sheng X, Hu Z, Jin G, Liu J, Liu X, Wang Y. Deviated and early unsustainable stunted development of gut microbiota in children with autism spectrum disorder. Gut. 2021.
OBJECTIVE: Recent studies have provided insights into the gut microbiota in autism spectrum disorder (ASD); however, these studies were restricted owing to limited sampling at the unitary stage of childhood. Herein, we aimed to reveal developmental characteristics of gut microbiota in a large cohort of subjects with ASD combined with interindividual factors impacting gut microbiota. DESIGN: A large cohort of 773 subjects with ASD (aged 16 months to 19 years), 429 neurotypical (NT) development subjects (aged 11 months to 15 years) were emolyed to determine the dynamics change of gut microbiota across different ages using 16S rRNA sequencing. RESULT: In subjects with ASD, we observed a distinct but progressive deviation in the development of gut microbiota characterised by persistently decreased alpha diversity, early unsustainable immature microbiota, altered aboudance of 20 operational taxonomic units (OTUs), decreased taxon detection rate and 325 deregulated microbial metabolic functions with age-dependent patterns. We further revealed microbial relationships that have changed extensively in ASD before 3 years of age, which were associated with the severity of behaviour, sleep and GI symptoms in the ASD group. This analysis demonstrated that a signature of the combination of 2 OTUs, Veillonella and Enterobacteriaceae, and 17 microbial metabolic functions efficiently discriminated ASD from NT subjects in both the discovery (area under the curve (AUC)=0.86), and validation 1 (AUC=0.78), 2 (AUC=0.82) and 3 (AUC=0.67) sets. CONCLUSION: Our large cohort combined with clinical symptom analysis highlights the key regulator of gut microbiota in the pathogenesis of ASD and emphasises the importance of monitoring and targeting the gut microbiome in future clinical applications of ASD.
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7. McClain MB, Harris B, Schwartz SE, Benallie KJ, Golson ME, Benney CM. Correction to: Brief Report: Development and Validation of the Autism Spectrum Knowledge Scale General Population Version: Preliminary Analyses. Journal of autism and developmental disorders. 2021.
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8. Tonacci A, Pioggia G, Gangemi S. Autism spectrum disorders and atopic dermatitis: a new perspective from country-based prevalence data. Clinical and molecular allergy : CMA. 2021; 19(1): 27.
Recently, a continuous growth for both neurodevelopmental and atopic diseases’ incidence was seen throughout the world. Notably, autism spectrum disorders (ASD) and atopic dermatitis (AD) attracted the attention of clinicians and scientists for their impact on the quality of life of patients, starting during childhood. Despite a number of hypotheses about common pathogenesis between the two disorders, uncertainty is still present, and data coming from various parts of the world are contradictory. Fortunately, works recently published have brought useful material for comparative analysis to the benefit of the scientific community, making large scale, country-based perspectives methodologically viable. In light of that, the present study took into account uniform data, available from country-based registries or related publications, dealing with the prevalence of the two conditions around the world, and tried to setup a simple correlation analysis between the two. According to such data, the growth of AD and ASD prevalence appear uncorrelated, leading to hypothesise that, if a common etiopathological pathway exists between the two conditions, they are likely to interact to each other due to a complex interplay of co-morbidities, genes and environmental players not enough explained by a simple correlation analysis. Such facts are worth investigation in future research.
