Pubmed du 05/02/22

Pubmed du jour

1. Aranki J, Wright P, Pompa-Craven P, Lotfizadeh AD. Acceptance of Telehealth Therapy to Replace In-Person Therapy for Autism Treatment During COVID-19 Pandemic: An Assessment of Patient Variables. Telemedicine journal and e-health : the official journal of the American Telemedicine Association. 2022.

Importance: Children with autism achieve improved behavioral outcomes with applied behavior analytic (ABA) interventions. Typically, ABA is delivered in a participant’s home or in a clinic setting. At the onset of COVID-19, treatment in these environments was not available due to health exposure concerns. A large social service organization in California rapidly pivoted to the delivery of ABA intervention through telehealth. Access disparity for telehealth has been a historical concern in health care delivery, particularly for disenfranchised populations within the autistic participant population. Objective: This study evaluated the demographic and behavioral variables associated with the acceptance or declination of telehealth by the pediatric participants’ caregivers at the onset of the pandemic. Design, Setting, Participants: A non-experimental design was used, and archival data were compared for a random sample of 100 participants with autism who accepted telehealth interventions with 100 participants who declined it. Main Outcomes and Measures: Socioeconomic data, gender, age, ethnicity, language, and household size were compared. Clinical data were compared for treatment dosage, standardized Vineland Adaptive Behavior Scales scores, and Verbal Behavior Milestones Assessment and Placement Program scores. Results: None of the demographic variables were statistically significant in a participant’s acceptance or declination of telehealth, but there were moderate differences in treatment dosage across the groups. Conclusions: It is concerning that a large portion of participants initially declined intervention via telehealth, resulting in these participants experiencing a gap in intervention during the pandemic. As intervention is imperative for pediatric autism participants, it is untenable that ∼40% of the population initially declined telehealth at the start of the pandemic.

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2. Durán-Pacheco G, Silkey M, Johnson M, Liu C, Clinch S, Law K, Loss G. Effect of Children’s Autism Spectrum Disorder Severity on Family Strain and Sleep Quality: A Cross-Sectional Online Survey in the U.S. Journal of autism and developmental disorders. 2022.

To better understand the impact of children’s autism spectrum disorder (ASD) severity on families, we evaluated pathways through which ASD severity affected child sleep quality, caregiver strain, and caregiver sleep quality. In a cross-sectional analysis through the U.S.-wide Simons Foundation Powering Autism Research for Knowledge (SPARK) cohort. Participants were caregivers of dependents with ASD aged 3-17 years (N = 3150). We found that increased severity strongly affects caregiver strain and child sleep quality. Child sleep quality was a minor mediator of increasing caregiver strain. Caregiver sleep quality depended on ASD severity only through child sleep quality and caregiver strain. Interventions aimed at improving child sleep quality or reducing caregiver strain could positively impact families of children with ASD.

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3. Mason D, Happé F. The role of alexithymia and autistic traits in predicting quality of life in an online sample. Research in autism spectrum disorders. 2022; 90: None.

BACKGROUND: Autistic people tend to report poorer Quality of Life (QOL) than comparison groups, though some studies do report more optimistic findings. Higher autistic traits are also related to poorer QOL. However, the role of alexithymia in this relationship has not been explored. METHOD: A total of 163 participants (N = 53 autistic and N = 111 comparison) consented to take part; however, 30 participants were excluded due to missing data (who did not differ from those who were retained on age, gender, education, employment, or living status), leaving a final sample of 133 (N = 42 Autistic and 91 Comparison participants). Demographic information (including age, gender) was collected, alongside self-report measures of autistic traits, mental health, alexithymia, and QOL. We estimated regression models based on pre-registered analysis, and we conducted exploratory network analyses. RESULTS: Alexithymic traits did not predict QOL when controlling for covariates. Depression significantly predicted Physical, Psychological, and Social QOL. When examining the impact of just alexithymic traits and autistic traits, both were significantly associated with Physical and Psychological QOL. For participants with a low depression score, the correlation between alexithymia and QOL was strong; suggesting that depression occludes the association between alexithymia and QOL. Network analyses suggested that depression and anxiety exert direct effects on Physical and Psychological QOL, whereas alexithymia scores may influence Physical QOL via autistic traits. CONCLUSION: In sum, depression is a pervasive negative predictor of multiple QOL domains. The role of alexithymia in predicting QOL dimensionally and categorically was not ruled out, given our exploratory analyses, we suggest that interventions which target alexithymia may positively impact QOL for those who score low on depressive symptoms.

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4. Pass R, Haan N, Humby T, Wilkinson LS, Hall J, Thomas KL. Selective behavioural impairments in mice heterozygous for the cross disorder psychiatric risk gene DLG2. Genes, brain, and behavior. 2022; 21(4): e12799.

Mutations affecting DLG2 are emerging as a genetic risk factor associated with neurodevelopmental psychiatric disorders including schizophrenia, autism spectrum disorder, and bipolar disorder. Discs large homolog 2 (DLG2) is a member of the membrane-associated guanylate kinase protein superfamily of scaffold proteins, a component of the post-synaptic density in excitatory neurons and regulator of synaptic function and plasticity. It remains an important question whether and how haploinsuffiency of DLG2 contributes to impairments in basic behavioural and cognitive functions that may underlie symptomatic domains in patients that cross diagnostic boundaries. Using a heterozygous Dlg2 mouse model we examined the impact of reduced Dlg2 expression on functions commonly impaired in neurodevelopmental psychiatric disorders including motor co-ordination and learning, pre-pulse inhibition and habituation to novel stimuli. The heterozygous Dlg2 mice exhibited behavioural impairments in long-term motor learning and long-term habituation to a novel context, but not motor co-ordination, initial responses to a novel context, PPI of acoustic startle or anxiety. We additionally showed evidence for the reduced regulation of the synaptic plasticity-associated protein cFos in the motor cortex during motor learning. The sensitivity of selective behavioural and cognitive functions, particularly those dependent on synaptic plasticity, to reduced expression of DLG2 give further credence for DLG2 playing a critical role in specific brain functions but also a mechanistic understanding of symptom expression shared across psychiatric disorders.

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5. Qiao Y, Gong W, Li B, Xu R, Wang M, Shen L, Shi H, Li Y. Oral Microbiota Changes Contribute to Autism Spectrum Disorder in Mice. Journal of dental research. 2022: 220345211070470.

The oral microbiota has been implicated in various neurologic conditions, including autism spectrum disorder (ASD), a category of neurodevelopmental disorders defined by core behavioral impairments. Recent data propose the etiopathogenetic role of intestinal microbiota in ASD. The aim of the present study was to elucidate whether the oral microbiota contributes to the pathogenesis of ASD. On the basis of microbial changes detected in the oral cavity of children with ASD, we transferred oral microbiota from donors with ASD and typical development (TD) into an antibiotic-mediated microbiota-depleted mouse model and found that the ASD microbiota is sufficient to induce ASD-like behaviors, such as impaired social behavior. Mice receiving oral microbiota from the ASD donor showed significantly different microbiota structures in their oral cavity and intestinal tract as compared with those receiving TD microbiota and those not receiving any bacterium. The prefrontal cortex of ASD microbiota recipient mice displayed an alternative transcriptional profile with significant upregulation of serotonin-related gene expression, neuroactive ligand-receptor interaction, and TGF-β signaling pathway relative to that in TD microbiota recipient mice. The expression of serotonin-related genes was significantly increased in ASD microbiota recipient mice and was associated with selective autistic behaviors and changes in abundance of specific oral microbiota, including species of Bacteroidetes [G-7], Porphyromonas, and Tannerella. Machine learning based on the causal inference method confirmed a contributing role of Porphyromonas sp. HMT 930 in ASD. Taken together, the oral microbiota of children with ASD can lead to ASD-like behaviors, differences in microbial community structures, and altered neurosignaling activities in recipient mice; this highlights the mouth-microbial-brain connections in the development of neuropathology and provides a novel strategy to fully understand the etiologic mechanism of ASD.

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6. Qiu T, Zhang H, Zhou C, Tang Q, Wang L, Ke X. Application of Telemedicine for Preliminary Screening of Autism Spectrum Disorder. Frontiers in pediatrics. 2021; 9: 745597.

OBJECTIVE: Preliminary screening for autism spectrum disorder (ASD) is mainly performed offline in China. This method is time consuming, labor intensive, inefficient and costly. These complications limit its routine implementation in some hospitals and child health institutions, especially community health service centers. Thus, the present study explored the clinical applicability of an online screening system for ASD detection based on telemedicine technology. METHODS: The online screening system designed based on the WeChat platform and section A of the Chinese-validated version of the checklist for autism in toddlers (CHAT-23-A) and combined with an independent Research and Development (R&D) program. The sensitivity and specificity were 0.92 and 0.90, respectively, and the area under the receiver operating characteristic curve (AUC) values for all 23 items and 7 key items were 0.934 and 0.91, respectively. RESULTS: The online screening system based on telemedicine technology was not limited by time, space, region, or medical resources and showed high sensitivity, specificity, and diagnostic efficiency for ASD. CONCLUSION: The online screening system based on telemedicine technology is suitable for large-scale population ASD screening in childcare institutions.

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7. Shan L, Feng JY, Wang TT, Xu ZD, Jia FY. Prevalence and Developmental Profiles of Autism Spectrum Disorders in Children With Global Developmental Delay. Frontiers in psychiatry. 2021; 12: 794238.

BACKGROUND: Previous studies have mostly explored the comorbidities of Global developmental delay (GDD) in children with Autism Spectrum Disorders (ASD) from the perspective of ASD. The study focus on the perspective of GDD to investigate the prevalence and developmental profiles of ASD in GDD and to explore the correlation between the developmental level and symptoms of autism. METHODS: Clinical data of 521 children with GDD aged from 24 to 60 months were retrospectively analyzed. Analyses were performed first for the whole sample and then subdivided into two subgroups (GDD(+)ASD(-), GDD(+)ASD(+)) according to whether had ASD. Symptoms of autism were evaluated by the Autism Behavior Checklist and the Childhood Autism Rating Scale. The Chinese version of the Gesell Developmental Schedules was used to evaluate the level of children’s mental development. RESULT: The prevalence of ASD in children with GDD was 62.3%. The total average developmental quotient (DQ) of GDD was mildly deficient and was negatively correlated with symptoms of autism (p < 0.05); language ability was severe and extremely severe deficient (P < 0.05). GDD(+)ASD(-) group and GDD(+)ASD(+) group have some common points as well as differences in the developmental features. The language delay of children in both subgroups was the most obviously defected, thereafter followed by the item of personal social activity. In the GDD(+)ASD(+) group, the DQ of gross motor skills>fine motor skills>adaptability (p < 0.05). There were no significant differences among the DQ of gross motor skills, fine motor skills and adaptability in GDD(+)ASD(-) group (p > 0.05). The GDD(+)ASD(-)group had better adaptability, fine motor skills, language ability, personal social activity than that of the GDD(+)ASD(+) group, but the gross motor skills in GDD(+)ASD(-) group were worse (p < 0.05). CONCLUSION: GDD children have a high proportion of comorbid ASD, and GDD children with poorer developmental levels are more likely to have ASD symptoms. Development profiles in both GDD(+)ASD(-) children and GDD(+)ASD(+) children have common features but there are also differences. GDD(+)ASD(+) group is worse than GDD(+)ASD(-) group in terms of the overall development level.

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8. Stuart N, Whitehouse A, Palermo R, Bothe E, Badcock N. Eye Gaze in Autism Spectrum Disorder: A Review of Neural Evidence for the Eye Avoidance Hypothesis. Journal of autism and developmental disorders. 2022.

Reduced eye contact early in life may play a role in the developmental pathways that culminate in a diagnosis of autism spectrum disorder. However, there are contradictory theories regarding the neural mechanisms involved. According to the amygdala theory of autism, reduced eye contact results from a hypoactive amygdala that fails to flag eyes as salient. However, the eye avoidance hypothesis proposes the opposite-that amygdala hyperactivity causes eye avoidance. This review evaluated studies that measured the relationship between eye gaze and activity in the ‘social brain’ when viewing facial stimuli. Of the reviewed studies, eight of eleven supported the eye avoidance hypothesis. These results suggest eye avoidance may be used to reduce amygdala-related hyperarousal among people on the autism spectrum.

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9. Tao K, Chung M, Watarai A, Huang Z, Wang MY, Okuyama T. Disrupted social memory ensembles in the ventral hippocampus underlie social amnesia in autism-associated Shank3 mutant mice. Molecular psychiatry. 2022.

The ability to remember conspecifics is critical for adaptive cognitive functioning and social communication, and impairments of this ability are hallmarks of autism spectrum disorders (ASDs). Although hippocampal ventral CA1 (vCA1) neurons are known to store social memories, how their activities are coordinated remains unclear. Here we show that vCA1 social memory neurons, characterized by enhanced activity in response to memorized individuals, were preferentially reactivated during sharp-wave ripples (SPW-Rs). Spike sequences of these social replays reflected the temporal orders of neuronal activities within theta cycles during social experiences. In ASD model Shank3 knockout mice, the proportion of social memory neurons was reduced, and neuronal ensemble spike sequences during SPW-Rs were disrupted, which correlated with impaired discriminatory social behavior. These results suggest that SPW-R-mediated sequential reactivation of neuronal ensembles is a canonical mechanism for coordinating hippocampus-dependent social memories and its disruption underlie the pathophysiology of social memory defects associated with ASD.

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