1. Abdel-Rahman EA, Zaky EA, Aboulsaoud M, Elhossiny RM, Youssef WY, Mahmoud AM, Ali SS. Autism spectrum disorder (ASD)-associated mitochondrial deficits are revealed in children’s platelets but unimproved by hyperbaric oxygen therapy. Free Radic Res ;2021 (Jan 6):1-15.

Mitochondrial and immune dysfunctions are often implicated in the aetiology of autism spectrum disorder (ASD). Here, we studied for the first time the relationship between ASD severity measures and mitochondrial respiratory rates in freshly isolated platelets as well as the activity of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase (NOX) in isolated neutrophils. We also verified the impact of hyperbaric oxygen therapy (HBOT) on mitochondrial and immune functions as well as on ASD severity measures. Blood samples were collected from three age-matched male groups (Control (Norm-N), autistic (Aut-N), and autistic + HBOT (Aut-H) ; N = 10 per group). Using high resolution respirometry, we found that routine basal respiration, complex I- and complex I + II-dependent oxidative phosphorylation rate were significantly impaired in Aut-N platelets. Similarly, deficits in immune response of neutrophils were evidenced through lower rates of oxygen consumption and reactive oxygen species (ROS) production by phagocytic NOX. ASD-related behavioural outcomes were found to moderately correlate with platelets’ mitochondrial bioenergetic parameters as well as with NOX-mediated activity in neutrophils. HBOT was not able to improve mitochondrial dysfunctions or to counteract ASD-related behavioral deficits. Although HBOT improved one measure of the immune response ; namely, NOX-mediated superoxide burst, this was not associated with significant changes in trends of recurrent infections between groups. Taken together, our data suggest that ASD-associated mitochondria and immune deficits are detectable in platelets and neutrophils. We also found no evidence that HBOT confers any significant improvement of ASD-associated physiological or behavioural phenotypes.

Lien vers le texte intégral (Open Access ou abonnement)

2. Benedetto L, Cucinotta F, Maggio R, Germanò E, De Raco R, Alquino A, Impallomeni C, Siracusano R, Vetri L, Roccella M, Ingrassia M, Gagliano A. One-Year Follow-Up Diagnostic Stability of Autism Spectrum Disorder Diagnosis in a Clinical Sample of Children and Toddlers. Brain Sci ;2021 (Jan 1) ;11(1)

Some studies show that the diagnosis of Autism Spectrum Disorder could be considered reliable and stable in children aged 18 to 24 months. Nevertheless, the diagnostic stability of early ASD diagnosis has not yet been fully demonstrated. This observational study examines the one-year diagnostic stability of autism spectrum disorder diagnosis in a clinical sample of 147 children diagnosed between 18 and 48 months of age. The ADOS-2 scores were used in order to stratify children in three levels of symptom severity : Autism (AD ; comparison score 5-7), Autism Spectrum Disorder (ASD ; comparison score 3-4), and Sub-Threshold Symptoms ; (STS ; comparison score 1-2). Results : Overall, the largest part of children and toddlers diagnosed with autism spectrum disorder between 18 and 48 months continued to show autistic symptoms at one-year follow-up evaluation. Nevertheless, a significant percentage of children with higher ADOS severity scores exhibited a reduction of symptom severity and, therefore, moved towards a milder severity class one year later. Conversely, the number of subjects of the STS group meaningfully increased. Therefore, at one-year follow-up a statistically significant (χ(2)(2) = 181.46, p < 0.0001) percentage of subjects (25.2% of the total) who had received a categorical diagnosis of Autistic Disorder or Autism Spectrum Disorder in baseline no longer met the criteria for a categorical diagnosis. Furthermore, children who no longer met the criteria for autism spectrum disorder continue to show delays in one or more neurodevelopmental areas, possibly related to the emergence of other neurodevelopmental/neuropsychiatric disorders. Overall, the comprehensive results of the study account for a high sensibility but a moderate stability of ASD early diagnosis.

Lien vers le texte intégral (Open Access ou abonnement)

3. Blakeley-Smith A, Meyer AT, Boles RE, Reaven J. Group cognitive behavioural treatment for anxiety in adolescents with ASD and intellectual disability : A pilot and feasibility study. J Appl Res Intellect Disabil ;2021 (Jan 6)

BACKGROUND : Adolescents with Autism Spectrum Disorder (ASD) and intellectual disability evidence significant anxiety. This study aimed to adapt a group cognitive behaviour therapies (CBT) programme designed for youth with ASD and anxiety to meet the cognitive, communication, and behavioural needs of adolescents with intellectual disability, and assess initial feasibility and efficacy of the intervention. METHODS : Structural, content and procedural adaptations were made to a 14-week family-focused CBT intervention. Twenty-three adolescents with ASD, intellectual disability and anxiety were included. Treatment acceptability along with adolescent anxiety symptoms was assessed via parent report measures. RESULTS : Of the 23 participants, 19 completed treatment and attended 94% of sessions. Parent acceptability was high. Significant reductions were noted on anxiety symptoms post-intervention. CONCLUSIONS : Results indicate that the CBT group was feasible and acceptable. Preliminary outcomes suggest that adolescent anxiety improved, although replication with a larger sample and comparison to a control group is needed.

Lien vers le texte intégral (Open Access ou abonnement)

4. Carrier FM, Lavoie A, Zaphiratos V. Epidural analgesia during labour and autism risk : getting lost on the causal path. Can J Anaesth ;2021 (Jan 6)

Lien vers le texte intégral (Open Access ou abonnement)

5. Du H, Wang YW, Li TT. [A systematic review of association between fine particle exposure and children’s behavior]. Zhonghua Yu Fang Yi Xue Za Zhi ;2021 (Jan 6) ;55(1):96-103.

Objective : To systematically analyze the impact of PM(2.5) exposure on children’s behavior. Methods : Use air pollution, fine particulate matter, children, students, child behavior, neurobehavior, attention, autism, autism spectrum disorder, attention deficit hyperactivity disorder, hyperactivity, and bad behavior as Chinese keywords. Use air pollution, fine particulate matter, particulate matter, PM(2.5), children, student, behavior, autism, attention, intention, neurobehavior, attention deficit hyperactivity disorder, ADHD, ASD as English keywords. Journal papers and grey literature were searched from CNKI, Wanfang Data Knowledge Service Platform, PubMed and Web of Science database from their inception to Nov 2019, which are related to PM(2.5) and children behavior problems. The search period is as of November 2019, and the languages are limited to Chinese and English. The inclusion criteria included the exposure factor of the study as PM(2.5) ; the results of the study included behavioral disorders and related diseases ; the languages of the included literature were Chinese and English ; original research papers ; case-control, cohort or cross-sectional studies. Exclusion criteria include animal experiments ; repeated reports ; review articles ; research exposure factors do not include PM(2.5) ; children self-harm and illegal behaviors. Finally, 25 articles were included. Results : Among the 25 included articles, 12 studies discussed the relationship between PM(2.5) exposure and childhood behavioral disorders, 13 discussed the relationship between PM(2.5) exposure and abnormal behaviors in children, and 5 studies based on the Chinese population. According to the research design, it is divided into birth cohort studies (15), cross-sectional studies (5), and case-control studies (5). China mainly uses cross-sectional studies and case-control studies. The results of the study suggest that PM(2.5) exposure will increase the risk of children’s behavioral problems, with both short-term and long-term effects. Short-term exposure to PM(2.5) can easily cause mild abnormal behaviors in children, and long-term exposure may increase the risk of children’s behavioral disorders. The fetal period and the infant period may be the key exposure window for the occurrence of children’s behavior problems. Conclusion : There may be a certain correlation between PM(2.5) exposure and children’s behavioral problems. In future studies, longitudinal cohort studies should be carried out to enhance the causal relationship between fine particulate matter pollution and children’s behavioral problems.

Lien vers le texte intégral (Open Access ou abonnement)

6. Fields VL, Soke GN, Reynolds A, Tian LH, Wiggins L, Maenner M, DiGuiseppi C, Kral TVE, Hightshoe K, Schieve LA. Pica, Autism, and Other Disabilities. Pediatrics ;2021 (Jan 6)

BACKGROUND AND OBJECTIVES : Pica, the repeated ingestion of nonfood items, can be life-threatening. Although case reports describe pica in children with autism spectrum disorder (ASD) or intellectual disability (ID), there has been little systematic study of pica prevalence. We assessed pica in children 30 to 68 months of age (median = 55.4 months) with and without ASD. METHODS : Our sample from the Study to Explore Early Development, a multisite case-control study, included children with ASD (n = 1426), children with other developmental disabilities (DDs) (n = 1735), and general population-based controls (POPs) (n = 1578). We subdivided the ASD group according to whether children had ID and the DD group according to whether they had ID and/or some ASD characteristics. Standardized developmental assessments and/or questionnaires were used to define final study groups, subgroups, and pica. We examined pica prevalence in each group and compared ASD and DD groups and subgroups to the POP group using prevalence ratios adjusted for sociodemographic factors. RESULTS : Compared with the prevalence of pica among POPs (3.5%), pica was higher in children with ASD (23.2%) and DD (8.4%), and in the following subgroups : ASD with ID (28.1%), ASD without ID (14.0%), DD with ID (9.7%), DD with ASD characteristics (12.0%), and DD with both ID and ASD characteristics (26.3%) ; however, pica prevalence was not elevated in children with DD with neither ID nor ASD characteristics (3.2%). Between-group differences remained after adjustment (adjusted prevalence ratio range 1.9-8.0, all P <.05). CONCLUSIONS : Pica may be common in young children with ASD, ASD characteristics, and ID. These findings inform the specialized health care needs of these children.

Lien vers le texte intégral (Open Access ou abonnement)

7. Ha BG, Heo JY, Jang YJ, Park TS, Choi JY, Jang WY, Jeong SJ. Depletion of Mitochondrial Components from Extracellular Vesicles Secreted from Astrocytes in a Mouse Model of Fragile X Syndrome. Int J Mol Sci ;2021 (Jan 2) ;22(1)

Mitochondrial dysfunction contributes to neurodegenerative diseases and developmental disorders such as Fragile X syndrome (FXS). The cross-talk between mitochondria and extracellular vesicles (EVs) suggests that EVs may transfer mitochondrial components as intermediators for intracellular communication under physiological and pathological conditions. In the present study, the ability of EVs to transfer mitochondrial components and their role in mitochondrial dysfunction in astrocytes were examined in the brains of Fmr1 knockout (KO) mice, a model of FXS. The amounts of mitochondrial transcription factor NRF-1, ATP synthases ATP5A and ATPB, and the mitochondrial membrane protein VDAC1 in EVs were reduced in cerebral cortex samples and astrocytes from Fmr1 KO mice. These reductions correspond to decreased mitochondrial biogenesis and transcriptional activities in Fmr1 KO brain, along with decreased mitochondrial membrane potential (MMP) with abnormal localization of vimentin intermediate filament (VIF) in Fmr1 KO astrocytes. Our results suggest that mitochondrial dysfunction in astrocytes is associated with the pathogenesis of FXS and can be monitored by depletion of components in EVs. These findings may improve the ability to diagnose developmental diseases associated with mitochondrial dysfunction, such as FXS and autism spectrum disorders (ASD).

Lien vers le texte intégral (Open Access ou abonnement)

8. Harikumar A, Evans DW, Dougherty CC, Carpenter KLH, Michael A. A Review of the Default Mode Network in Autism Spectrum Disorders and Attention Deficit Hyperactivity Disorder. Brain Connect ;2021 (Jan 6)

Functional magnetic resonance imaging (fMRI) has been widely used to examine the relationships between brain function and phenotypic features in neurodevelopmental disorders. Techniques such as resting state functional connectivity (FC) have enabled the identification of the primary networks of the brain. One fMRI network in particular, the default mode network, (DMN), has been implicated in social-cognitive deficits in Autism Spectrum Disorders (ASD) and attentional deficits in Attentional Deficit Hyperactivity Disorder (ADHD). Given the significant clinical and genetic overlap between ASD and ADHD, surprisingly, no reviews have compared the clinical, developmental, and genetic correlates of DMN in ASD and ADHD and here we address this knowledge gap. We find that, compared to matched controls, ASD studies show a mixed pattern of both stronger and weaker FC in the DMN and ADHD studies mostly show stronger FC. Factors such as age, IQ, medication status, and heredity affect DMN FC in both ASD and ADHD. We also note that most DMN studies make ASD versus ADHD group comparisons and fail to consider ASD+ADHD comorbidity. We conclude, by identifying areas for improvement and by discussing the importance of using transdiagnostic approaches such as the Research Domain Criteria (RDoC) to fully account for the phenotypic and genotypic heterogeneity and overlap of ASD and ADHD.

Lien vers le texte intégral (Open Access ou abonnement)

9. Harshe D, Tekkalaki B, Bhise MC, Andrade C. Remarks on « Cross-disciplinary Appraisal of Knowledge and Beliefs Regarding the Diagnosis of Autism Spectrum Disorders in India : A Cross-sectional Survey ». Indian J Psychol Med ;2020 (Jul) ;42(4):404.

Lien vers le texte intégral (Open Access ou abonnement)

10. Hine JF, Wagner L, Goode R, Rodrigues V, Taylor JL, Weitlauf A, Warren ZE. Enhancing developmental-behavioral pediatric rotations by teaching residents how to evaluate autism in primary care. Autism ;2021 (Jan 5):1362361320984313.

Most physician preparation programs do not provide enough practical experiences in autism-related care. This is especially true for how to assess for and diagnose autism. Without this training, many pediatricians are not well prepared to implement appropriate care for children with autism and their families. We designed a curriculum to improve training for medical residents that involved explicit hands-on training in diagnostic identification and care coordination for toddlers at risk for autism. We collected data to assess whether our enhanced curriculum led to increased comfort level across recommended practice behaviors. Almost all the residents were able to complete the training within their rotation and our surveys indicated significant increases in residents feeling more comfortable identifying symptoms of autism, providing feedback about diagnostic decisions, and effectively connecting families with services. A significant majority of residents considered it appropriate or very appropriate for children to receive a diagnosis solely from a primary care provider. Our results suggest feasibility of the enhanced model, and this project reflects the first step in advancing incorporation of autism training into pediatric residency programs.

Lien vers le texte intégral (Open Access ou abonnement)

11. Huang Y, Huang X, Ebstein RP, Yu R. Intranasal oxytocin in the treatment of autism spectrum disorders : A multilevel meta-analysis. Neurosci Biobehav Rev ;2021 (Jan 2) ;122:18-27.

Intranasal oxytocin has been shown to promote social functioning and has recently been applied as a treatment for autism spectrum disorders (ASD). The current meta-analysis aims to assess the crucial question of oxytocin’s efficacy in the treatment of ASD. We performed a systematic literature search, including randomized, single- or double-blind/open-label and placebo-controlled clinical trials as well as single-arm, non-randomized and uncontrolled studies investigating exogenous oxytocin effect on ASD. A total of 28 studies (N = 726 ASD patients) met our predefined inclusion criteria. We used a multilevel meta-analytic model and found that oxytocin had beneficial effects on social functioning, but did not find strong evidence for symptoms improvement in the non-social domain. Our findings suggest that oxytocin administration can be regarded as an effective treatment for some core aspects of ASD, especially in the domain of social functioning, highlighting the promise of using oxytocin as a new-generation therapeutic to address core social impairments in ASD.

Lien vers le texte intégral (Open Access ou abonnement)

12. Jain A, Tiwari S, Padickaparambil S. Authors’ Response to the Comments on « Cross-disciplinary Appraisal of Knowledge and Beliefs Regarding the Diagnosis of Autism Spectrum Disorders in India : A Cross-sectional Survey ». Indian J Psychol Med ;2020 (Jul) ;42(4):405-406.

Lien vers le texte intégral (Open Access ou abonnement)

13. Kanemura H, Sano F, Hoshino H, Aihara M. Efficacy of perampanel in epilepsy patients with autism spectrum disorder. Epilepsy Res ;2021 (Jan 6) ;170:106550.

AIM : The aim of this study was to assess the usefulness of perampanel (PER), and to identify the relationship between behavioral impairments and electroencephalogram (EEG) findings in epilepsy patients with autism spectrum disorder (ASD). METHODS : Participants were ASD patients with epilepsy recruited between June 1, 2016 and June 30, 2018. Inclusion criteria were : seizures refractory to two appropriate antiseizure medications (ASMs) ; presence of neuropsychological impairments ; and ≥12 months of monitoring. PER was administered once daily, starting at a dose of 2 mg/day, increased to 12 mg/day. Seizure/EEG responders were identified as participants showing a >50 % reduction in seizure/interictal epileptiform discharge (IED) frequency (indicated as complete disappearance and response). Behavioral responders were identified as participants with a ≥50 % reduction in scores of the Japanese manuals for the Aberrant Behavior Checklist (ABC-J). RESULTS : Eleven (64.7 %) of 17 patients were considered to be both seizure and EEG responders. Five (45.5 %) of these 11 patients with seizure/EEG response were considered as behavioral responders. Mean ABC-J scores were significantly decreased at 12 months after PER administration (p = 0.0002). A correlation between decreased IED frequency and ABC-J score was evident in frontal IEDs, but not in non-frontal IEDs. Participants presenting with frontal IEDs showed a significantly higher correlation between seizures/EEG and behavioral improvements (p = 0.023). Moreover, 2 of 6 patients without seizure/EEG improvement were considered as behavioral responders. No patients discontinued PER. CONCLUSIONS : The results from this study suggest the utility of PER treatment in reducing clinical seizures and IEDs for ASD patients with intractable epilepsy, at least in some patients. Moreover, the present results also indicate the usefulness of PER in improving neuropsychiatric impairments, including behavioral disturbances in ASD related to improvement of clinical seizures/frontal IEDs, but also unrelated to seizure/EEG improvement in at least some ASD patients.

Lien vers le texte intégral (Open Access ou abonnement)

14. Naegelin Y, Kuhle J, Schädelin S, Datta AN, Magon S, Amann M, Barro C, Ramelli GP, Heesom K, Barde YA, Weber P, Kappos L. Fingolimod in children with Rett syndrome : the FINGORETT study. Orphanet J Rare Dis ;2021 (Jan 6) ;16(1):19.

BACKGROUND : Rett syndrome (RS) is a severe neurodevelopmental disorder for which there is no approved therapy. This study aimed to assess safety and efficacy of oral fingolimod in children with RS using a pre-post and case-control design. METHODS : At the University of Basel Children’s Hospital, Basel, Switzerland, children with RS were included if they were older than 6 years and met the established diagnostic criteria of RS, including a positive MeCP2 mutation. Participants were observed 6 months before and after treatment and received 12 months of fingolimod treatment. Serum samples of 50 children without RS served as reference for brain-derived neurotrophic factor (BDNF) measurements. Primary outcome measures were safety and efficacy, the latter measured by change in levels of BDNF in serum/CSF (cerebrospinal fluid) and change in deep gray matter volumes measured by magnetic resonance imaging (MRI). Secondary outcome measure was efficacy measured by change in clinical scores [Vineland Adaptive Behaviour Scale (VABS), Rett Severity Scale (RSSS) and Hand Apraxia Scale (HAS)]. RESULTS : Six children with RS (all girls, mean and SD age 11.3 ± 3.1 years) were included. Serum samples of 50 children without RS (25 females, mean and SD age 13.5 ± 3.9 years) served as reference for BDNF measurements. No serious adverse events occurred. Primary and secondary outcome measures were not met. CSF BDNF levels were associated with all clinical scores : RSSS (estimate – 0.04, mult.effect 0.96, CI [0.94 ; 0.98], p = 0.03), HAS (estimate – 0.09, mult.effect 0.91, CI [0.89 ; 0.94], p < 0.01) and VABS (communication : estimate 0.03, mult.effect 1.03, CI [1.02 ; 1.04], p < 0.01/daily living : estimate 0.03, mult.effect 1.03, CI [1.02 ; 1.04], p < 0.01/social skills : estimate 0.07, mult.effect 1.08, CI [1.05 ; 1.11], p < 0.01/motoric skills : estimate 0.04, mult.effect 1.04, CI [1.03 ; 1.06], p = 0.02). CONCLUSIONS : In children with RS, treatment with fingolimod was safe. The study did not provide supportive evidence for an effect of fingolimod on clinical, laboratory, and imaging measures. CSF BDNF levels were associated with clinical scores, indicating a need to further evaluate its potential as a biomarker for RS. This finding should be further validated in independent patient groups. TRIAL REGISTRATION : Clinical Trials.gov NCT02061137, registered on August 27th 2013, https://clinicaltrials.gov/ct2/show/study/NCT02061137 .

Lien vers le texte intégral (Open Access ou abonnement)

15. Newman RS, Kirby LA, Von Holzen K, Redcay E. Read my lips ! Perception of speech in noise by preschool children with autism and the impact of watching the speaker’s face. J Neurodev Disord ;2021 (Jan 5) ;13(1):4.

BACKGROUND : Adults and adolescents with autism spectrum disorders show greater difficulties comprehending speech in the presence of noise. Moreover, while neurotypical adults use visual cues on the mouth to help them understand speech in background noise, differences in attention to human faces in autism may affect use of these visual cues. No work has yet examined these skills in toddlers with ASD, despite the fact that they are frequently faced with noisy, multitalker environments. METHODS : Children aged 2-5 years, both with and without autism spectrum disorder (ASD), saw pairs of images in a preferential looking study and were instructed to look at one of the two objects. Sentences were presented in the presence of quiet or another background talker (noise). On half of the trials, the face of the target person speaking was presented, while half had no face present. Growth-curve modeling was used to examine the time course of children’s looking to the appropriate vs. opposite image. RESULTS : Noise impaired performance for both children with ASD and their age- and language-matched peers. When there was no face present on the screen, the effect of noise was generally similar across groups with and without ASD. But when the face was present, the noise had a more detrimental effect on children with ASD than their language-matched peers, suggesting neurotypical children were better able to use visual cues on the speaker’s face to aid performance. Moreover, those children with ASD who attended more to the speaker’s face showed better listening performance in the presence of noise. CONCLUSIONS : Young children both with and without ASD show poorer performance comprehending speech in the presence of another talker than in quiet. However, results suggest that neurotypical children may be better able to make use of face cues to partially counteract the effects of noise. Children with ASD varied in their use of face cues, but those children who spent more time attending to the face of the target speaker appeared less disadvantaged by the presence of background noise, indicating a potential path for future interventions.

Lien vers le texte intégral (Open Access ou abonnement)

16. Nie PY, Tong L, Li MD, Fu CH, Peng JB, Ji LL. miR-142 downregulation alleviates rat PTSD-like behaviors, reduces the level of inflammatory cytokine expression and apoptosis in hippocampus, and upregulates the expression of fragile X mental retardation protein. J Neuroinflammation ;2021 (Jan 6) ;18(1):17.

BACKGROUND : FMRP is a selective mRNA-binding protein that regulates protein synthesis at synapses, and its loss may lead to the impairment of trace fear memory. Previously, we found that FMRP levels in the hippocampus of rats with post-traumatic stress disorder (PTSD) were decreased. However, the mechanism underlying these changes remains unclear. METHODS : Forty-eight male Sprague-Dawley rats were randomly divided into four groups. The experimental groups were treated with the single-prolonged stress (SPS) procedure and injected with a lentivirus-mediated inhibitor of miR-142-5p. Behavior test as well as morphology and molecular biology experiments were performed to detect the effect of miR-142 downregulation on PTSD, which was further verified by in vitro experiments. RESULTS : We found that silence of miRNA-142 (miR-142), an upstream regulator of FMRP, could alleviate PTSD-like behaviors of rats exposed to the SPS paradigm. MiR-142 silence not only decreased the levels of proinflammatory mediators, such as interleukin-1β, interleukin-6, and tumor necrosis factor-α, but also increased the expressive levels of synaptic proteins including PSD95 and synapsin I in the hippocampus, which was one of the key brain regions associated with PTSD. We further detected that miR-142 silence also downregulated the transportation of nuclear factor kappa-B (NF-κB) into the nuclei of neurons and might further affect the morphology of neurons. CONCLUSIONS : The results revealed miR-142 downregulation could alleviate PTSD-like behaviors through attenuating neuroinflammation in the hippocampus of SPS rats by binding to FMRP.

Lien vers le texte intégral (Open Access ou abonnement)

17. Numata N, Nakagawa A, Yoshioka K, Isomura K, Matsuzawa D, Setsu R, Nakazato M, Shimizu E. Associations between autism spectrum disorder and eating disorders with and without self-induced vomiting : an empirical study. J Eat Disord ;2021 (Jan 6) ;9(1):5.

BACKGROUND : Although approximately 23% of anorexia nervosa (AN) patients have concomitant autism spectrum disorder (ASD), it is clinically difficult to determine ASD coexistence in patients with eating disorders. Restrictive AN is more common in younger patients and self-induced vomiting usually appears during adolescence/young adulthood, in order to prevent gaining weight caused by overeating. However, some patients are tolerant of weight gain even if they start overeating. It is important to understand the essential difference between those who vomit and those who do not vomit. In this study, we hypothesised that the absence of self-induced vomiting may be associated with the presence of ASD and aimed to assess the presence of ASD traits in each eating disorder (EDs). Clarifying this association helps to consider the coexistence of ASD in the clinical setting and can lead to the next detailed ASD evaluation, and as a result, helps to determine the appropriate treatment and support individually. METHODS : We retrospectively evaluated 43 females aged 15-45 years who attended Chiba University Hospital between 2012 and 2016 using the Eating Disorder Examination Questionnaire (EDE-Q) and Autism-Spectrum Quotient (AQ) to quantify the severity of the EDs and to identify whether ASD traits were present. RESULTS : There was no difference in the AQ score between bingeing-purging type AN and restricting type AN. However, there was significant difference in the AQ score between bulimia nervosa and binge EDs (BED). Of the 4 ED subtypes, BED had the highest ASD traits. The non-vomiting group with illness duration < 4 years had a significantly higher AQ communication score than the vomiting group with illness duration ≥4 years. CONCLUSIONS : There was a difference in the AQ score by the presence or absence of self-induced vomiting. The results of this study suggest an association between high scores on AQ and non-vomiting. Thus, evaluation of patients for the absence of self-induced vomiting while assessing them for EDs may help us to understand the association with ASD traits.

Lien vers le texte intégral (Open Access ou abonnement)

18. Pierce S, Kadlaskar G, Edmondson DA, McNally Keehn R, Dydak U, Keehn B. Associations between sensory processing and electrophysiological and neurochemical measures in children with ASD : an EEG-MRS study. J Neurodev Disord ;2021 (Jan 6) ;13(1):5.

BACKGROUND : Autism spectrum disorder (ASD) is associated with hyper- and/or hypo-sensitivity to sensory input. Spontaneous alpha power, which plays an important role in shaping responsivity to sensory information, is reduced across the lifespan in individuals with ASD. Furthermore, an excitatory/inhibitory imbalance has also been linked to sensory dysfunction in ASD and has been hypothesized to underlie atypical patterns of spontaneous brain activity. The present study examined whether resting-state alpha power differed in children with ASD as compared to TD children, and investigated the relationships between alpha levels, concentrations of excitatory and inhibitory neurotransmitters, and atypical sensory processing in ASD. METHODS : Participants included thirty-one children and adolescents with ASD and thirty-one age- and IQ-matched typically developing (TD) participants. Resting-state electroencephalography (EEG) was used to obtain measures of alpha power. A subset of participants (ASD = 16 ; TD = 16) also completed a magnetic resonance spectroscopy (MRS) protocol in order to measure concentrations of excitatory (glutamate + glutamine ; Glx) and inhibitory (GABA) neurotransmitters. RESULTS : Children with ASD evidenced significantly decreased resting alpha power compared to their TD peers. MRS estimates of GABA and Glx did not differ between groups with the exception of Glx in the temporal-parietal junction. Inter-individual differences in alpha power within the ASD group were not associated with region-specific concentrations of GABA or Glx, nor were they associated with sensory processing differences. However, atypically decreased Glx was associated with increased sensory impairment in children with ASD. CONCLUSIONS : Although we replicated prior reports of decreased alpha power in ASD, atypically reduced alpha was not related to neurochemical differences or sensory symptoms in ASD. Instead, reduced Glx in the temporal-parietal cortex was associated with greater hyper-sensitivity in ASD. Together, these findings may provide insight into the neural underpinnings of sensory processing differences present in ASD.

Lien vers le texte intégral (Open Access ou abonnement)

19. Pieroni F, Massei F, Micheletti MV, Luti L, De Marco E, Ludovisi A, Casazza G, Bruschi F. Toxocariasis in a Child with Autism Spectrum Disorder. Int J Environ Res Public Health ;2021 (Jan 2) ;18(1)

A boy affected by autism spectrum disorder was admitted for persistent high fever, without shiver, for two weeks. The boy referred to abdominal pain, in the first week of fever, and to mild anorexia in the last days before admittance to our hospital centre. The father reported that the boy suffered by geophagia and coprophagia and he has been going to a didactical farm (where he has been exposed to several kinds of animals) to improve his neuropsychiatric condition. Blood analysis shows severe eosinophilia and high levels of total IgE, and abdominal echocardiography showed hepatic lesions. Enzyme-linked immunosorbent assay (ELISA) and Western blot (WB) confirmed the suspicion of toxocariasis, linked to the habit of the boy to ingest ground or animal faeces in a didactic farm frequented by the boy. Treatment with albendazole and prednisone was administered with a rapid improvement of the symptoms and the laboratory findings and significant reduction of the hepatic lesion.

Lien vers le texte intégral (Open Access ou abonnement)

20. Rawsthorne H, Calahorro F, Feist E, Holden-Dye L, O’Connor V, Dillon J. Neuroligin dependence of social behaviour in Caenorhabditis elegans provides a model to investigate an autism-associated gene. Hum Mol Genet ;2021 (Jan 6) ;29(21):3546-3553.

Autism spectrum disorder (ASD) is characterized by a triad of behavioural impairments including social behaviour. Neuroligin, a trans-synaptic adhesion molecule, has emerged as a penetrant genetic determinant of behavioural traits that signature the neuroatypical behaviours of autism. However, the function of neuroligin in social circuitry and the impact of genetic variation to this gene is not fully understood. Indeed, in animal studies designed to model autism, there remains controversy regarding the role of neuroligin dysfunction in the expression of disrupted social behaviours. The model organism, Caenorhabditis elegans, offers an informative experimental platform to investigate the impact of genetic variants on social behaviour. In a number of paradigms, it has been shown that inter-organismal communication by chemical cues regulates C. elegans social behaviour. We utilize this social behaviour to investigate the effect of autism-associated genetic variants within the social domain of the research domain criteria. We have identified neuroligin as an important regulator of social behaviour and segregate the importance of this gene to the recognition and/or processing of social cues. We also use CRISPR/Cas9 to edit an R-C mutation that mimics a highly penetrant human mutation associated with autism. C. elegans carrying this mutation phenocopy the behavioural dysfunction of a C. elegans neuroligin null mutant, thus confirming its significance in the regulation of animal social biology. This highlights that quantitative behaviour and precision genetic intervention can be used to manipulate discrete social circuits of the worm to provide further insight into complex social behaviour.

Lien vers le texte intégral (Open Access ou abonnement)

21. Sharma N, Andrade C. Comments on « Knowledge and Beliefs About Autism Spectrum Disorders in Indian Healthcare Professionals ». Indian J Psychol Med ;2020 (Jul) ;42(4):405.

Lien vers le texte intégral (Open Access ou abonnement)

22. Viviers M, Jongh M, Dickonson L, Malan R, Pike T. Parent-reported feeding and swallowing difficulties of children with Autism Spectrum Disorders (aged 3 to 5 years) compared to typically developing peers : a South African study. Afr Health Sci ;2020 (Mar) ;20(1):524-532.

BACKGROUND : Research on aspects of neurodevelopment such as feeding and swallowing difficulties in children with Autism Spectrum Disorders (ASD) is limited in low and middle income countries such as South Africa. METHOD : A descriptive comparative group design was used to investigate feeding and swallowing difficulties of young children with ASD in comparison to typically developing peers. The Brief Autism Mealtime Behavioural Inventory (BAMBI) was used. RESULTS : Findings indicated a significant difference in the severity of feeding and swallowing difficulties between the two groups. Difficulties such as food selectivity, sensory processing difficulties, oral-motor difficulties and symptoms of dysphagia were identified. The findings added to the existing global literature on feeding and swallowing difficulties in young children with ASD but provide a unique first perspective on these difficulties in South African children with ASD. CONCLUSION : Findings also highlighted the use of the BAMBI as an adjunct clinical tool to encourage comprehensive parental report during feeding assessment in this population. Cultural adaptation of the BAMBI for future use in African countries should be considered. A better local understanding of the parental perspective on the multidimensional nature of the feeding and swallowing difficulties displayed by young children with ASD was obtained.

Lien vers le texte intégral (Open Access ou abonnement)

23. Wang YM, Qiu MY, Liu Q, Tang H, Gu HF. Critical role of dysfunctional mitochondria and defective mitophagy in autism spectrum disorders. Brain Res Bull ;2021 (Jan 2) ;168:138-145.

Autism spectrum disorders (ASDs) are a group of complex neurodevelopmental disorders, including autistic disorder, Asperger’s syndrome, pervasive developmental disorder and childhood disintegrative disorder. Mitochondria not only provide neurons with energy in the form of ATP to sustain neuron growth, proliferation and neurodevelopment, but also regulate neuron apoptosis, intracellular calcium ion (Ca(2+)) homeostasis, and reactive oxygen species (ROS) clearance. Due to their postmitotic state and high energy-demanded feature, neurons are particularly prone to mitophagy and mitochondrial disfunction. Mitophagy, a selective autophagy, is critical for sustaining mitochondrial turnover and quality control via eliminating unwanted and dysfunctional mitochondria in neurons. Dysfunctional mitochondria and dysregulated mitophagy have been closely associated with the onset of ASDs. In this review, we summarize the mechanism of mitophagy and its role in neurons, and the consequence of mitophagy dysfunction in ASDs. Deeper appreciation of the role of mitophagy in ASDs pathology is required for developing new therapeutic approaches.

Lien vers le texte intégral (Open Access ou abonnement)