Early Screening and Risk Factors of Autism Spectrum Disorder in a Large Cohort of Chinese Patients With Prader-Willi Syndrome

Kong, Xuejun; Zhu, Junli; Tian, Ruiyi; Liu, Siyu; Sherman, Hannah Tayla; Zhang, Xiaoying; Lin, Xiaojing; Han, Yang; Xiang, Zhi; Koh, Madelyn; Hobbie, Clara; Wang, Bryan; Liu, Kevin; Li, Jun; Yin, Yue-Ping; Wan, Guobin

doi:10.3389/fpsyt.2020.594934

Cited by 11 publications

(8 citation statements)

References 34 publications

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“…Autism Spectrum Disorders (ASD) encompasses a group of disorders characterized by early-onset social communication deficits and repetitive sensory-motor behaviors. The disorders have a predominantly genetic component [ 1 ], as 74 to 93% of ASD have been identified as heritable [ 2 ], but other risk factors have been reported [ 3 ]. ASD ranges from very mild to severe, and many individuals require lifelong support [ 1 ].…”

Section: Introductionmentioning

confidence: 99%

Tongue microbiome in children with autism spectrum disorder

Halboub

Homeida

Basode

et al. 2021

Journal of Oral Microbiology

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Background:A few recent studies have characterized the salivary microbiome in association with Autism Spectrum Disorder (ASD). Here, we sought to assess if there is an association between the tongue microbiome and ASD. Methods: Tongue scrapping samples were obtained from 25 children with ASD and 38 neurotypical controls. The samples were sequenced for the 16S rRNA gene (V1-V3) and the resultant high-quality reads were assigned to the species-level using our previously described BLASTn-based algorithm. Downstream analyses of microbial profiles were conducted using QIIME, LEfSe, and R. Results: Independent of grouping, Prevotella, Streptococcus, Leptotrichia, Veillonella, Haemophilus and Rothia accounted for > 60% of the average microbiome. Haemophilus parainfluenzae, Rothia mucilaginosa, Prevotella melaninogenica and Neisseria flavescens/subflava were the most abundant species. Species richness and diversity did not significantly differ between the study groups. Thirteen species and three genera were differentially abundant between the two groups, e.g. enrichment of Actinomyces odontolyticus and Actinomyces lingnae and depletion of Campylobacter concisus and Streptococcus vestibularis in the ASD group. However, none of them withstood adjustment for multiple comparisons. Conclusion:The tongue microbiome of children with ASD was not significantly different from that of healthy control children, which is largely consistent with results from the literature.

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Section: Introductionmentioning

confidence: 99%

Tongue microbiome in children with autism spectrum disorder

Halboub

Homeida

Basode

et al. 2021

Journal of Oral Microbiology

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“…PWS has been genetically attributed to a lack of expression of 15q11.2-q13 regioncontaining MAGEL2 gene -due to paternal deletion or imprinting, or maternal uniparental disomy (1). Apart from well-documented developmental deficits, PWS patients also show a high comorbidity with autism symptoms (2,3) including decreased social responsiveness in non-threatening contexts (4), increased temper outbursts (5)(6)(7) and social fear (8). Remarkably, most of these clinical symptoms are well-replicated in Magel2 knockout (KO) mice, which report impaired response to social novelty following social habituation (9,10) as well as high social fear that is difficult to extinguish (11).…”

Section: Introductionmentioning

confidence: 99%

Acquiring social safety engages oxytocin neurons in the supraoptic nucleus – role of Magel2 deficiency

Chakraborty,

Lamat,

André

et al. 2024

Preprint

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Introduction: Exposure to social trauma may alter engagement with both fear-related and unrelated social stimuli long after. Intriguingly, how simultaneous discrimination of social fear and safety is affected in neurodevelopmental conditions like autism remains underexplored. The role of the neuropeptide oxytocin is established in social behaviors, and yet unexplored during such a challenge post-social trauma. Methods: Using Magel2-knockout mice, an animal model of Prader Willi Syndrome (PWS) and autism spectrum disorders, we tested memory of social fear and safety after a modified social fear conditioning task. Additionally, we tracked the activity of oxytocin neurons in the supraoptic (SON) and paraventricular (PVN) nuclei of the hypothalamus by fibre photometry, as animals were simultaneously presented with a choice between a fear and safe social cue during recall. Results: Male Magel2 KO mice trained to fear females with electrical footshocks avoided both unfamiliar females and males during recalls, lasting even a week post-conditioning. On the contrary, trained Magel2 WT avoided only females during recalls, lasting days rather than a week postconditioning. Inability to overcome social fear and avoidance of social safety in Magel2 KO mice were associated with reduced engagement of oxytocin neurons in the SON, but not the PVN. Conclusion: In a preclinical model of PWS, we demonstrated region-specific deficit in oxytocin activity associated with behavioral generalization of social fear to social safety. Insights from this study add to our understanding of oxytocin action in the brain at the intersection of social trauma, PWS and related autism spectrum disorders.

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“…Prader-Willi syndrome (PWS) is a rare genetic disorder featuring severe hypotonia and feeding difficulties in early infancy and subsequent hyperphagia and early childhood onset obesity. Additionally, developmental delay, short stature, and numerous neuropsychiatric comorbidities have been implicated in individuals with PWS and it has been recognized as a type of syndromic autism spectrum disorder (ASD) [1][2][3][4]. Given the diverse array of symptoms associated with PWS and an increasing popularity in multi-omics research, there is a growing body of literature supporting linkages between alterations in the gut microbiota and the clinical manifestations of PWS-associated features; however, few studies have attempted to characterize the salivary microbiome composition and elucidate the potential interactions with the gut microbiome.…”

Section: Introductionmentioning

confidence: 99%

Altered Salivary Microbiota Following Bifidobacterium animalis Subsp. Lactis BL-11 Supplementation Are Associated with Anthropometric Growth and Social Behavior Severity in Individuals with Prader-Willi Syndrome

Liu

Kong

2022

Probiotics & Antimicro. Prot.

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To evaluate the influence of oral probiotic Bifidobacterium animalis subsp. lactis (BL-11) supplementation on salivary microbiota composition and the association with growth parameters, and behavioral symptoms in individuals with Prader-Willi syndrome (PWS). In this post hoc analysis, we included a subset of 36 PWS patients with available saliva samples from our original randomized, double-blinded, placebo-controlled trial (Chinese Clinical Trial Registry, ChiCTR1900022646, April 20, 2019). Among the 36 subjects, 17 subjects were allocated to the probiotic group for daily use of the BL-11 probiotic and 19 subjects were allocated to the placebo group. Groupwise and longitudinal differences in salivary microbiota abundances, biodiversity metrics, and height were analyzed. Linear correlations were found between identified differentially abundant salivary microbiota and clinical parameters. Salivary microbiome α-diversity was found to be higher in the probiotic-treated group at week 12 relative to placebo controls (P < 0.05). Leptotrichia, Paracoccus, and Faecalibacterium were found to be more abundant in the probiotic-treated group (P < 0.05). Salivary microbiota abundance and predicted functional profiling abundance correlations were found to be associated with anti-inflammation, anti-obesity, toxin degradation, and anti-oxidative injury effects (Q < 0.1). Several oral taxa also displayed correlations with social behavior severity scores in the probiotic-treated group (Q < 0.1). The findings suggest novel salivary microbiota compositional changes in response to the oral supplementation of BL-11 probiotic in individuals with PWS. The observed differentially abundant taxa between groups post-treatment were highly correlated with interventional effects on growth and social behaviors, although further investigation is warranted. Clinical Trial Registration The original clinical trial was registered under the Chinese Clinical Trial Registry with registration number ChiCTR1900022646 (April 20, 2019).

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Early Screening and Risk Factors of Autism Spectrum Disorder in a Large Cohort of Chinese Patients With Prader-Willi Syndrome

Cited by 11 publications

References 34 publications

Tongue microbiome in children with autism spectrum disorder

Tongue microbiome in children with autism spectrum disorder

Acquiring social safety engages oxytocin neurons in the supraoptic nucleus – role of Magel2 deficiency

Altered Salivary Microbiota Following Bifidobacterium animalis Subsp. Lactis BL-11 Supplementation Are Associated with Anthropometric Growth and Social Behavior Severity in Individuals with Prader-Willi Syndrome

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