1. Cipriani C, Tartaglione AM, Giudice M, D’Avorio E, Petrone V, Toschi N, Chiarotti F, Miele MT, Calamandrei G, Garaci E, Matteucci C, Sinibaldi-Vallebona P, Ricceri L, Balestrieri E. Differential Expression of Endogenous Retroviruses and Inflammatory Mediators in Female and Male Offspring in a Mouse Model of Maternal Immune Activation. International journal of molecular sciences. 2022; 23(22).

Maternal infections during pregnancy and the consequent maternal immune activation (MIA) are the major risk factors for autism spectrum disorder (ASD). Epidemiological evidence is corroborated by the preclinical models in which MIA leads to ASD-like behavioral abnormalities and altered neuroinflammatory profiles, with an increase in pro-inflammatory cytokines and microglial markers. In addition to neuroinflammatory response, an abnormal expression of endogenous retroviruses (ERVs) has been identified in neurodevelopmental disorders and have been found to correlate with disease severity. Our aim was to evaluate the transcriptional profile of several ERV families, ERV-related genes, and inflammatory mediators (by RT real-time PCR) in mouse offspring of both sexes, prenatally exposed to polyinosinic:polycytidylic acid (Poly I:C), a synthetic double-stranded RNA molecule targeting TLR-3 that mimics viral maternal infection during pregnancy. We found that prenatal exposure to Poly I:C deregulated the expression of some ERVs and ERV-related genes both in the prefrontal cortex (PFC) and hippocampus, while no changes were detected in the blood. Interestingly, sex-related differences in the expression levels of some ERVs, ERV-related genes, and inflammatory mediators that were higher in females than in males emerged only in PFC. Our findings support the tissue specificity of ERV and ERV-related transcriptional profiles in MIA mice.

Lien vers le texte intégral (Open Access ou abonnement)

2. da Silva Moro J, Rodrigues TD, Kammer PV, de Camargo AR, Bolan M. Efficacy of the Video Modeling Technique as a Facilitator of Non-invasive Dental Care in Autistic Children: Randomized Clinical Trial. Journal of autism and developmental disorders. 2022.

This study aims to evaluate the video modeling technique during the dental appointment. A blinded randomized clinical trial was composed of 2 groups, consisting of 20 autistic children (4 to 12 years) in each group: control (did not watch the video before the consultation) and intervention (watched the video before the consultation). The primary outcome was the mean number of visits to perform a dental appointment. The number of consultations was analyzed by T-test or Mann-Whitney test. The results showed that the mean number of consultations in the intervention group was 1.5 (± 1.53) and in the control group 2 (± 1.77) (p ≤ 0.05). The video modeling technique can be effective in minimizing the number of dental consultations in autistic children.

Lien vers le texte intégral (Open Access ou abonnement)

3. Datta D, Bansal S, Satapathy A, Sahu RN. Sacral Defect with Anterior Sacral Meningocele in a Child – A Mesodermal Developmental Disorder. Neurology India. 2022; 70(5): 2277-8.

Lien vers le texte intégral (Open Access ou abonnement)

4. Davis O. Abnormal Chromatin Folding in the Molecular Pathogenesis of Epilepsy and Autism Spectrum Disorder: a Meta-synthesis with Systematic Searching. Molecular neurobiology. 2022.

How DNA is folded and packaged in nucleosomes is an essential regulator of gene expression. Abnormal patterns of chromatin folding are implicated in a wide range of diseases and disorders, including epilepsy and autism spectrum disorder (ASD). These disorders are thought to have a shared pathogenesis involving an imbalance in the number of excitatory-inhibitory neurons formed during neurodevelopment; however, the underlying pathological mechanism behind this imbalance is poorly understood. Studies are increasingly implicating abnormal chromatin folding in neural stem cells as one of the candidate pathological mechanisms, but no review has yet attempted to summarise the knowledge in this field. This meta-synthesis is a systematic search of all the articles on epilepsy, ASD, and chromatin folding. Its two main objectives were to determine to what extent abnormal chromatin folding is implicated in the pathogenesis of epilepsy and ASD, and secondly how abnormal chromatin folding leads to pathological disease processes. This search produced 22 relevant articles, which together strongly implicate abnormal chromatin folding in the pathogenesis of epilepsy and ASD. A range of mutations and chromosomal structural abnormalities lead to this effect, including single nucleotide polymorphisms, copy number variants, translocations and mutations in chromatin modifying. However, knowledge is much more limited into how abnormal chromatin organisation subsequently causes pathological disease processes, not yet showing, for example, whether it leads to abnormal excitation-inhibitory neuron imbalance in human brain organoids.

Lien vers le texte intégral (Open Access ou abonnement)

5. Elsayed HE, Thompson KL, Conklin JL, Watson LR. Systematic Review of the Relation Between Feeding Problems and Sensory Processing in Children With Autism Spectrum Disorder. American journal of speech-language pathology. 2022; 31(6): 2875-99.

PURPOSE: Many studies have linked sensory sensitivities to feeding problems in children with autism spectrum disorder (ASD). Despite the importance of sensory processing for a variety of mealtime and eating skills, the specific sensory processes that may impact feeding problems in children with ASD have not been comprehensively reviewed. Thus, the goal of this systematic review was to understand the associations between sensory processing and feeding difficulties in children with ASD. METHOD: This systematic review was carried out according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. The PubMed, CINAHL Plus with Full Text (EBSCOhost), Scopus (Elsevier), and Embase (Elsevier) databases were searched from their dates of inception through the final search date of April 19, 2022, for English language studies that examined both sensory processing and feeding among children with ASD. Studies were assessed for quality using the Joanna Briggs Institute critical appraisal tools. RESULTS: A total of 27 studies were included. Findings supported the existence of a relationship between sensory processing and feeding problems in children with ASD. Specifically, studies reported that overall scores on sensory processing measures as well as measures of oral sensory processing were frequently associated with feeding problems. CONCLUSIONS: This review supports the development of future feeding interventions focusing on sensory processing given the relationship between sensory processing and feeding problems among children with ASD. Future research should focus on utilizing consistent feeding assessments specific to children with ASD and collect information on medical diagnoses that can impact feeding in order to report on feeding more holistically in this population. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.21453909.

Lien vers le texte intégral (Open Access ou abonnement)

6. Ezedinma U, Swierkowski P, Fjaagesund S. Outcomes from Individual Alpha Frequency Guided Repetitive Transcranial Magnetic Stimulation in Children with Autism Spectrum Disorder – A Retrospective Chart Review. Child psychiatry and human development. 2022.

AIMS AND OBJECTIVES: Individual alpha frequency (IAF) is a biomarker of neurophysiological functioning. The IAF-guided repetitive transcranial magnetic stimulation (α-rTMS) is increasingly explored in diverse neurological conditions. However, there is limited data on the efficacy and safety of α-rTMS in children with autism spectrum disorder (ASD). MATERIALS AND METHODS: The IAF, childhood autism rating scale (CARS), Pediatric Quality of Life Inventory 4.0 (PedsQLTM 4.0), and semi-structured interview data of patients that received 19 α-rTMS sessions (4 weeks) were aggregated and analysed using paired student t-test and descriptive method. RESULTS: Data were retrieved from 28 patients (26 males, aged 3-9years (mean ± SD age: 6.1 ± 1.8years)). The post-α-rTMS data shows a significant improvement in IAF (9.4 Hz; p ≤ 0.025) towards 10 Hz. The CARS and PedsQLTM 4.0 surveys indicate that patients’ ASD symptoms and quality of life improved significantly. Specifically, reports from semi-structured interviews suggest improved sleep trouble – the most significant comorbidity. The experiences of minor side effects such as hyperactivity resolved within two hours following α-rTMS sessions. CONCLUSION: This study presents evidence on the efficacy and safety of α-rTMS in improving ASD symptoms, quality of life and comorbid sleep troubles in children. However, these findings should be interpreted as preliminary pending the presentation of double-blind, randomised clinical trials.

Lien vers le texte intégral (Open Access ou abonnement)

7. Gardner L, Cederberg C, Hangauer J, Campbell JM. Law enforcement officers’ interactions with autistic individuals: Commonly reported incidents and use of force. Research in developmental disabilities. 2022; 131: 104371.

Little research exists examining interactions between law enforcement officers (LEOs) and autistic individuals. The present study includes responses from 130 LEOs who participated in autism-specific training and completed surveys assessing professional experiences responding to calls that involved individuals with known autism spectrum disorder (ASD) diagnosis. The purpose of the present study was to determine the types of incidents LEOs respond to involving autistic people, and the level of force used in response to the incident. Analysis revealed four categories captured the majority of reported incidents: disruptive behavior, suspected abuse/neglect, elopement, and noncriminal behavior. The most commonly reported responses by LEOs included providing support and extreme controlling behaviors, with female officers more likely to report utilizing supportive behaviors and less force compared to male counterparts.

Lien vers le texte intégral (Open Access ou abonnement)

8. Li Z, Hutchings-Hay C, Byford S, Tchanturia K. How to support adults with anorexia nervosa and autism: Qualitative study of clinical pathway case series. Frontiers in psychiatry. 2022; 13: 1016287.

INTRODUCTION: Previous research has explored the overlapping presentation between autism and eating disorders (ED). This study aims to summarize the clinical challenges associated with co-occurring autism and anorexia nervosa (AN) based on clinicians’ case notes and minutes from case discussions, to understand how to better support people with the comorbidity. METHOD: Thematic analysis was conducted on de-identified notes on 20 cases with AN and autistic characteristics and minutes from case discussions. Themes relevant to clinical challenges in supporting those with the comorbidity were identified, and a thematic map was produced to visually represent the results. RESULTS: The key challenges faced by clinicians when treating patients with AN and autism included: communication difficulties, maintaining boundaries, autism screening, presence of other comorbidities, sensory difficulties, atypical presentation of eating difficulties, cognitive rigidity, and emotional difficulties. Adaptations to resolve some of these difficulties included exposure-based food experiments, keeping a record of patients’ self-reported communication preferences, individual-level modification of communication style, and providing tools for patients to identify emotions. CONCLUSIONS AND IMPLICATIONS: Further exploration to establish the effectiveness of the adaptations is warranted. Furthermore, tools for differentiating between ED, autism and other comorbidities are needed to help clinicians clarify the cause of a presenting symptom, and help them to best support and maintain boundaries with patients.

Lien vers le texte intégral (Open Access ou abonnement)

9. Lin LZ, Ou XX, Zhan XL, Wang X, Cai L, Li XH, Jing J, Dong GH. Pre-conceptional and prenatal exposure to secondhand smoke and autism spectrum disorder: a national multi-center study in China. World journal of pediatrics : WJP. 2022.

BACKGROUND: Despite extensive research evaluating the association between prenatal exposure to secondhand smoke (SHS) and the development of autism spectrum disorders (ASD), no study has investigated the association by considering the pre-conceptional period. This study aimed to investigate the associations of pre-conceptional and prenatal SHS exposure and the development of ASD among toddlers. METHODS: In this cross-sectional study, parents of 6049 toddlers aged 16-30 months were recruited from 7 tertiary hospitals, 21 communities, and 7 kindergartens located in seven cities in six provinces from five geographical regions of China. We analyzed the associations of SHS exposure and the odds of ASD among toddlers in different exposure windows (pre-conceptional and/or prenatal periods). Data were analyzed from November 2021 to January 2022. RESULTS: Among the 6049 toddlers included in the analysis [22.7 (4.1) months; 44.8% girls], 71 were identified and diagnosed with ASD. Compared with the unexposed toddlers, toddlers with pre-conceptional SHS exposure had higher odds of ASD (OR 2.30, 95% CI 1.36-3.84), while we observed a non-significantly positive association regarding prenatal SHS exposure. When considering both pre-conceptional and prenatal periods, toddlers who were continuously exposed to SHS during these two periods had higher odds than those without SHS exposure (OR 2.32, 95% CI 1.24-4.14). CONCLUSION: We reported positive SHS-ASD associations when exposed during the pre-conceptional period and continuously exposed during pre-conceptional and prenatal periods, emphasizing the critical window of pre-conception for targeted intervention on smoking.

Lien vers le texte intégral (Open Access ou abonnement)

10. Madhubala B, Rangasami R, Ramachandran R. Fetal Unilateral Cerebellar Hypoplasia. Neurology India. 2022; 70(5): 2324-5.

Lien vers le texte intégral (Open Access ou abonnement)

11. Moshirian Farahi SMM, Leth-Steensen C. Development of a novel, theoretically motivated scale to assess cognitive learning styles related to the autism spectrum. BMC psychiatry. 2022; 22(1): 696.

BACKGROUND: Although theoretical efforts have been made to address the cognitive learning styles of individuals on the autism spectrum, no instrument to measure such learning styles is currently available. The current study aimed to develop such a scale based on the learning style theory of Qian and Lipkin (Front Hum Neurosci 5:77, 2011). METHODS: Response data from total of 768 undergraduate students was used for this study. This sample was split into two subsamples of N = 460 and N = 308 for exploratory factor analysis (EFA) and confirmatory factor analysis (CFA), respectively. The correlations between the resulting new subscales and some other potentially related measures were examined. RESULTS: A three-factor structure with 19 items was obtained measuring need for task clarity/familiarity, susceptibility to cognitive load, and the grasping of conceptual relations. CONCLUSIONS: This newly developed measure can be used to help understand the nature of the individual differences in cognitive processing that are evident across both the autism spectrum as well as the overall population more generally.

Lien vers le texte intégral (Open Access ou abonnement)

12. Nestorowich DL, Lupien SP, Madaus Knapp V. Perceptions of Behaviors Associated with ASD in Others: Knowledge of the Diagnosis Increases Empathy and Improves Perceptions of Warmth and Competence. European journal of investigation in health, psychology and education. 2022; 12(11): 1594-606.

Individuals with Autism Spectrum Disorder (ASD) often exhibit atypical social behaviors that some may perceive as odd or discomforting. Given that ASD is largely invisible, it may be difficult to understand why a person is displaying these atypical behaviors, leading to less favorable attitudes. The current study aimed to examine if having an explanation for an individual exhibiting behaviors associated with ASD could improve perceptions of warmth and competence, as well as the amount of empathy felt towards the individual. Participants (n = 82) were presented with a scenario involving two people, one of whom exhibited behaviors consistent with ASD. ASD diagnosis information was manipulated, such that half of the participants were told that the target was diagnosed with ASD, and the other half were given no diagnostic information. Afterwards, participants rated the target. Results indicated that having an explanation for the ASD-related behaviors led to higher ratings of warmth and competence and greater feelings of empathy. Furthermore, empathy mediated the relationship between having the diagnostic information and target ratings. Thus, having an explanation for someone’s behavior may lead to greater feelings of empathy and improve perceptions and understanding. This has important implications for improving education and awareness about behaviors associated with ASD as well as for making the decision of whether or not to disclose one’s diagnosis.

Lien vers le texte intégral (Open Access ou abonnement)

13. O’Hagan B, Krauss SB, Friedman AJ, Bartolotti L, Abubakare O, Broder-Fingert S, Augustyn M. Identifying Components of Autism Friendly Health Care: An Exploratory Study Using a Modified Delphi Method. Journal of developmental and behavioral pediatrics : JDBP. 2022.

OBJECTIVES: Autistic individuals report lower health care satisfaction. However, there is currently no set of « best practice » standards about caring for autistic individuals. In this exploratory study, we aim to identify features of Autism Friendly practice according to a sample consisting of mainly professionals whose interests include autism using a modified 3-round Delphi-a method that identifies a consensus view across subject participants. METHODS: Statements about components of an Autism Friendly health care practice were compiled in consultation with the steering committee of an Autism Friendly Initiative at a single, urban academic safety-net hospital. Participants were recruited through our national network of professionals and patients/families mailing list. Examples of invited professionals included researchers, health care workers, and educators. In the first 2 rounds, we distributed electronic surveys to participants, who scored statements from 1 to 9 regarding importance. In round 2, statements that were scored low by all stakeholder groups were eliminated. Seventy-eight participants responded to the first-round survey, and 51 participants responded to the second-round survey. In the third round, 38 participants ranked 16 statements from most to least important. Statements are summarized and presented in the Results section. RESULTS: Topics that emerged from highly ranked statements include environmental/operational modifications (e.g., longer appointment times) and staff training to support autistic patients. CONCLUSION: Highly ranked statements represented previously reported barriers, including the need for staff training and inclusive engagement with the autistic community. The findings can help inform health care organizations to determine priorities when building an Autism Friendly health care practice.

Lien vers le texte intégral (Open Access ou abonnement)

14. Rosen NE, Schiltz HK, Lord C. Teacher- and parent-reported trajectories of maladaptive behaviors among individuals with autism and non-spectrum delays. Autism research : official journal of the International Society for Autism Research. 2022.

People with autism spectrum disorder (ASD) and non-spectrum developmental delays frequently exhibit maladaptive behaviors throughout the lifespan, which can have pervasive effects on quality of life. Maladaptive behaviors have been shown to change over time as a function of various individual-level factors (e.g., cognitive ability), yet research is primarily limited to parent-reported measures. To expand upon this work, the present study aimed to examine trajectories of teacher- and parent-reported maladaptive behaviors (i.e., hyperactivity, irritability, social withdrawal) and to test whether individual-level predictors (e.g., autism features, verbal intelligence quotient) and school-related predictors (e.g., teacher type, student-adult ratio, personal aide, school type) impact these trajectories among 165 individuals with ASD or non-spectrum delays from ages 9 to 18. Multilevel models revealed that, according to both teacher and parent report, participants showed the greatest improvement in hyperactivity, less but still notable improvement in irritability, and stable levels of social withdrawal over time. Higher verbal ability and fewer ASD features, in addition to mainstream school placement, emerged as important individual- and school-related differences associated with fewer maladaptive behaviors over time. The multi-informant perspective and longitudinal design provide novel insight into the manifestations of these maladaptive behaviors across different contexts and across time. Findings highlight the consistency of teacher- and parent-reported trajectories over time and further emphasize the importance of targeting maladaptive behaviors using a multisystem intervention approach in both school and home contexts.

Lien vers le texte intégral (Open Access ou abonnement)

15. Schlebusch L, Chambers N, Rosenstein D, Erasmus P, de Vries PJ. Supporting caregivers of children with developmental disabilities: Findings from a brief caregiver well-being programme in South Africa. Autism : the international journal of research and practice. 2022: 13623613221133182.

Young children with developmental disabilities and delays who live in low- and middle-income countries are at significant risk of not reaching their full potential. We know that daily interactions with their caregivers (parents or other people taking care of them) play an important role in promoting their development. However, having a child with developmental disabilities can have a negative impact on carers’ mental health and well-being, which in turn can influence their capacity to care for their children. To date, very little attention has been given to the caregivers’ capacity to care. The World Health Organization developed a Caregiver Skills Training programme which includes a brief, three-session module that focuses on improving caregivers’ well-being and mental health. This well-being programme is based on acceptance and commitment therapy. Acceptance and commitment therapy shows increasing evidence of helping people respond to their stressors, thoughts, feelings and experiences a little differently and commit to small changes that are in line with their personal values. Acceptance and commitment therapy has shown promise in improving feelings of well-being in caregivers of children with developmental disabilities. We adapted the World Health Organization Caregiver Skills Training Caregiver well-being module to suit the South African context. The resultant ‘Well Beans for Caregivers’ was then delivered to caregivers from a rural, low-resource setting in South Africa. We found the intervention easy to implement, highly acceptable to caregivers and showed promising impacts on caregivers’ well-being and mental health. This intervention has the potential to be implemented widely and sustainably to build caregivers’ capacity to care for their children.

Lien vers le texte intégral (Open Access ou abonnement)

16. Shahrokhi Kahnooj H, Dadgar H, Saberi H. Validity and reliability of the Persian version of the WH-Question comprehension test in children With autism. Applied neuropsychology Child. 2022: 1-6.

Questions form essential components of everyday speech; therefore, it is appropriate to evaluate children with autism to understand what they are asking during the daily conversation. A proper tool is required to assess questions formed through interrogative pronouns (what are commonly known as Wh-questions). The present study investigates the validity and reliability of the WH-Question comprehension test in children with autism. A sample of 52 neurotypical children were recruited from nursery and primary schools, and a sample of 28 children with autism were recruited from different centers for children with autism. The WH-Comprehension test was translated into Persian according to the international test commission (ITC) guideline. The reliability of the test was determined by test-retest and Cronbach’s alpha approach. The face validity of the Persian version of the « WH-Comprehension test » was confirmed. The CVR for the test was equal to 0.85%, and the CVI was equal to 0.89%. Furthermore, the Intraclass Correlation Coefficient (ICC) for the total score was equal to 0.95, and Cronbach’s Alpha Coefficient was calculated as 0.92. The results indicate that the translated WH-Comprehension test has acceptable validity and reliability within the sampled Persian groups and can be a helpful research tool.

Lien vers le texte intégral (Open Access ou abonnement)

17. Sherriff A, Stewart R, Macpherson LMD, Kidd JBR, Henderson A, Cairns D, Conway DI. Child oral health and preventive dental service access among children with intellectual disabilities, autism and other educational additional support needs: A population-based record linkage cohort study. Community dentistry and oral epidemiology. 2022.

OBJECTIVE: Inequalities in child oral health are a global challenge and the intersection of socioeconomic factors with educational additional support needs (ASN), including children with intellectual disabilities or autism, have thus far received limited attention in relatively small clinical studies. We aimed to address this evidence gap by investigating oral health and access to preventive dental services among children with ASN compared to the general child population. METHODS: Cohort study linking data from six Scotland-wide health and education databases compared: dental caries experience and tooth extraction via general anaesthetic; receipt of school-based dental inspection; access to primary care and hospital dental services; and access to the Childsmile national oral health improvement programme between children with a range of ASN (intellectual disabilities, autism, social and other) and their peers for the school years 2016/17-2018/19 (n = 166 781). RESULTS: Children with any ASN had higher rates of caries experience than those with no ASN, however, after adjustment for socioeconomic deprivation, sex, year, and school type only those with a social or other ASN remained at increased risk. Rates of tooth extraction under general anaesthesia in hospital were higher among children with intellectual disabilities (aRR = 1.67;95% CI = [1.16-2.37]). School-based dental inspection access improved for children with intellectual disability and/or autism from 2016/17 onwards, although higher rates of child refusal on the day were observed in these groups (no ASN refusal: 5.4%; intellectual disability: 35.8%; autism: 40.3%). Children with any ASN were less likely to attend primary dental-care regularly, and in those who attended, children with intellectual disability or autism were less likely than their peers to receive prevention (fluoride varnish, oral-hygiene instruction, or dietary advice). Childsmile nursery-supervised toothbrushing programme access among children with any ASN was similar to children with no ASN and children with intellectual disability (aRR = 1.27;95% CI = [1.12-1.45]) or autism (aRR = 1.32;95% CI = [1.19-1.45]) were more likely to receive support from Childsmile dental health support worker. CONCLUSIONS: We have identified inequalities in oral health and dental care for children with different ASN in Scotland with both a greater burden of disease among some groups and higher complexity of care; compounded by reduced and variable access to preventive dental services. Further efforts are needed to develop and improve preventive care pathways for children with ASN and integrate oral health to wider healthcare systems for these children to mitigate against oral health inequalities.

Lien vers le texte intégral (Open Access ou abonnement)

18. Simhal AK, Carpenter KLH, Kurtzberg J, Song A, Tannenbaum A, Zhang L, Sapiro G, Dawson G. Changes in the geometry and robustness of diffusion tensor imaging networks: Secondary analysis from a randomized controlled trial of young autistic children receiving an umbilical cord blood infusion. Frontiers in psychiatry. 2022; 13: 1026279.

Diffusion tensor imaging (DTI) has been used as an outcome measure in clinical trials for several psychiatric disorders but has rarely been explored in autism clinical trials. This is despite a large body of research suggesting altered white matter structure in autistic individuals. The current study is a secondary analysis of changes in white matter connectivity from a double-blind placebo-control trial of a single intravenous cord blood infusion in 2-7-year-old autistic children (1). Both clinical assessments and DTI were collected at baseline and 6 months after infusion. This study used two measures of white matter connectivity: change in node-to-node connectivity as measured through DTI streamlines and a novel measure of feedback network connectivity, Ollivier-Ricci curvature (ORC). ORC is a network measure which considers both local and global connectivity to assess the robustness of any given pathway. Using both the streamline and ORC analyses, we found reorganization of white matter pathways in predominantly frontal and temporal brain networks in autistic children who received umbilical cord blood treatment versus those who received a placebo. By looking at changes in network robustness, this study examined not only the direct, physical changes in connectivity, but changes with respect to the whole brain network. Together, these results suggest the use of DTI and ORC should be further explored as a potential biomarker in future autism clinical trials. These results, however, should not be interpreted as evidence for the efficacy of cord blood for improving clinical outcomes in autism. This paper presents a secondary analysis using data from a clinical trial that was prospectively registered with ClinicalTrials.gov(NCT02847182).

Lien vers le texte intégral (Open Access ou abonnement)

19. Trus M, Servili E, Taieb-Cohen T, Atlas D. Autism associated mutations in β(2) subunit of voltage-gated calcium channels constitutively activate gene expression. Cell calcium. 2022; 108: 102672.

Membrane depolarization triggers gene expression through voltage-gated calcium channels (VGCC) in a process called Excitation-transcription (ET) coupling. Mutations in the channel subunits α(1)1.2, or β(2d), are associated with neurodevelopmental disorders such as ASD. Here, we found that two mutations S143F and G113S within the rat Cavβ(2a) corresponding to autistic related mutations Cavβ(2d)(S197F) and Cavβ(2d)(G167S) in the human Cavβ(2d), activate ET-coupling via the RAS/ERK/CREB pathway. Membrane depolarization of HEK293 cells co-expressing α(1)1.2 and α(2δ) with Cavβ(2a)(S143F) or Cavβ(2a)(G113S) triggers constitutive transcriptional activation, which is correlated with facilitated channel activity. Similar to the Timothy-associated autistic mutation α(1)1.2(G406R), constitutive gene activation is attributed to a hyperpolarizing shift in the activation kinetics of Cav1.2. Pulldown of RasGRF2 and RhoGEF by wt and the Cavβ(2a) autistic mutants is consistent with Cavβ(2)/Ras activation in ET coupling and implicates Rho signaling as yet another molecular pathway activated by Cavα(1)1.2/Cavβ2 . Facilitated spontaneous channel activity preceding enhanced gene activation via the Ras/ERK/CREB pathway, appears a general molecular mechanism for Ca(2+) channel mediated ASD and other neurodevelopmental disorders.

Lien vers le texte intégral (Open Access ou abonnement)

20. Walsh MJM, Ofori E, Pagni BA, Chen K, Sullivan G, Braden BB. Preliminary findings of accelerated visual memory decline and baseline brain correlates in middle-age and older adults with autism: The case for hippocampal free-water. Frontiers in aging neuroscience. 2022; 14: 1029166.

Research aimed at understanding cognitive and brain aging in adults with autism spectrum disorder (ASD) is growing, but critical longitudinal work is scant. Adults with ASD struggle with tasks involving visual memory compared with neurotypical adults (NT). This may be related to differences in size or integrity of the hippocampus and its’ primary structural connectivity pathway, the fornix. The aim of this study was to describe preliminary findings of longitudinal aging trajectories in short- and long-term visual memory abilities in middle-age and older adults with ASD, compared with matched NT adults. We then evaluated baseline multi-modal imaging metrics of the hippocampal system, including the relatively novel metric of free-water, as potential correlates of longitudinal memory change in the ASD group. Middle-age and older adults with ASD (n = 25) and matched NT adults (n = 25) between the ages of 40 and 70 years were followed longitudinally at ~2-year intervals (range 2-5 years). Participants completed the Wechsler Memory Scale III Visual Reproduction task. Longitudinal mixed models were utilized to detect group differences in memory change with baseline age and sex as covariates. Hippocampal volume was measured via T1-weighted MRI images with FreeSurfer. Fornix fractional anisotropy and hippocampal and fornix free-water were measured from diffusion tensor imaging scans. Exploratory correlations were run between individual hippocampal system metrics and longitudinal slopes of visual memory change. There was a significant group by time interaction for long-term visual memory, such that middle-age and older adults with ASD declined faster than matched NT adults. There was no group by time interaction for short-term visual memory. Baseline hippocampal free-water was the only hippocampal system metric that correlated with long-term visual memory change in the ASD group. As one of the first longitudinal cognitive and brain aging studies in middle-age and older adults with ASD, our findings suggest vulnerabilities for accelerated long-term visual memory decline, compared to matched NT adults. Further, baseline hippocampal free-water may be a predictor of visual memory change in middle-age and older adults with ASD. These preliminary findings lay the groundwork for future prognostic applications of MRI for cognitive aging in middle-age and older adults with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

21. Wiebe A, Kannen K, Selaskowski B, Mehren A, Thöne AK, Pramme L, Blumenthal N, Li M, Asché L, Jonas S, Bey K, Schulze M, Steffens M, Pensel MC, Guth M, Rohlfsen F, Ekhlas M, Lügering H, Fileccia H, Pakos J, Lux S, Philipsen A, Braun N. Virtual reality in the diagnostic and therapy for mental disorders: A systematic review. Clinical psychology review. 2022; 98: 102213.

BACKGROUND: Virtual reality (VR) technologies are playing an increasingly important role in the diagnostics and treatment of mental disorders. OBJECTIVE: To systematically review the current evidence regarding the use of VR in the diagnostics and treatment of mental disorders. DATA SOURCE: Systematic literature searches via PubMed (last literature update: 9(th) of May 2022) were conducted for the following areas of psychopathology: Specific phobias, panic disorder and agoraphobia, social anxiety disorder, generalized anxiety disorder, posttraumatic stress disorder (PTSD), obsessive-compulsive disorder, eating disorders, dementia disorders, attention-deficit/hyperactivity disorder, depression, autism spectrum disorder, schizophrenia spectrum disorders, and addiction disorders. ELIGIBILITY CRITERIA: To be eligible, studies had to be published in English, to be peer-reviewed, to report original research data, to be VR-related, and to deal with one of the above-mentioned areas of psychopathology. STUDY EVALUATION: For each study included, various study characteristics (including interventions and conditions, comparators, major outcomes and study designs) were retrieved and a risk of bias score was calculated based on predefined study quality criteria. RESULTS: Across all areas of psychopathology, k = 9315 studies were inspected, of which k = 721 studies met the eligibility criteria. From these studies, 43.97% were considered assessment-related, 55.48% therapy-related, and 0.55% were mixed. The highest research activity was found for VR exposure therapy in anxiety disorders, PTSD and addiction disorders, where the most convincing evidence was found, as well as for cognitive trainings in dementia and social skill trainings in autism spectrum disorder. CONCLUSION: While VR exposure therapy will likely find its way successively into regular patient care, there are also many other promising approaches, but most are not yet mature enough for clinical application. REVIEW REGISTRATION: PROSPERO register CRD42020188436. FUNDING: The review was funded by budgets from the University of Bonn. No third party funding was involved.

Lien vers le texte intégral (Open Access ou abonnement)