Pubmed du 25/11/22

Pubmed du jour

1. Ainsworth K, Bertone A. Audiovisual temporal binding window narrows with age in autistic individuals. Autism research : official journal of the International Society for Autism Research. 2022.

Atypical sensory perception has been recognized in autistic individuals since its earliest descriptions and is now considered a key characteristic of autism. Although the integration of sensory information (multisensory integration; MSI) has been demonstrated to be altered in autism, less is known about how this perceptual process differs with age. This study aimed to assess the integration of audiovisual information across autistic children and adolescents. MSI was measured using a non-social, simultaneity judgment task. Variation in temporal sensitivity was evaluated via Gaussian curve fitting procedures, allowing us to compare the width of temporal binding windows (TBWs), where wider TBWs indicate less sensitivity to temporal alignment. We compared TBWs in age and IQ matched groups of autistic (n = 32) and neurotypical (NT; n = 73) children and adolescents. The sensory profile of all participants was also measured. Across all ages assessed (i.e., 6 through 18 years), TBWs were negatively correlated with age in the autistic group. A significant correlation was not found in the NT group. When compared as a function of child (6-12 years) and adolescent (13-18 years) age groups, a significant interaction of group (autism vs NT) by age group was found, whereby TBWs became narrower with age in the autistic, but not neurotypical group. We also found a significant main effect of age and no significant main effect of group. Results suggest that TBW differences between autistic and neurotypical groups diminishes with increasing age, indicating an atypical developmental profile of MSI in autism which ameliorates across development.

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2. Alam MS, Rashid MM, Roy R, Faizabadi AR, Gupta KD, Ahsan MM. Empirical Study of Autism Spectrum Disorder Diagnosis Using Facial Images by Improved Transfer Learning Approach. Bioengineering (Basel, Switzerland). 2022; 9(11).

Autism spectrum disorder (ASD) is a neurological illness characterized by deficits in cognition, physical activities, and social skills. There is no specific medication to treat this illness; only early intervention can improve brain functionality. Since there is no medical test to identify ASD, a diagnosis might be challenging. In order to determine a diagnosis, doctors consider the child’s behavior and developmental history. The human face can be used as a biomarker as it is one of the potential reflections of the brain and thus can be used as a simple and handy tool for early diagnosis. This study uses several deep convolutional neural network (CNN)-based transfer learning approaches to detect autistic children using the facial image. An empirical study is conducted to select the best optimizer and set of hyperparameters to achieve better prediction accuracy using the CNN model. After training and validating with the optimized setting, the modified Xception model demonstrates the best performance by achieving an accuracy of 95% on the test set, whereas the VGG19, ResNet50V2, MobileNetV2, and EfficientNetB0 achieved 86.5%, 94%, 92%, and 85.8%, accuracy, respectively. Our preliminary computational results demonstrate that our transfer learning approaches outperformed existing methods. Our modified model can be employed to assist doctors and practitioners in validating their initial screening to detect children with ASD disease.

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3. Alonso-Sardón M, Sáez-Lorenzo M, Chamorro AJ, Fernández-Martín LC, Iglesias-de-Sena H, González-Núñez V, Santos-Sánchez J, Carbonell C, Lorenzo-Gómez MF, Mirón-Canelo JA. Adverse Effects in Patients with Intellectual and Developmental Disabilities Hospitalized at the University Clinical Hospital. Journal of personalized medicine. 2022; 12(11).

(1) Background: Providing the patient with the health care they need in a personalized and appropriate manner and without adverse effects (AEs) is a part of quality of care and patient safety. The aim of this applied research project was the assessment of AEs as a clinical risk in patients with high social vulnerability such as persons with intellectual and developmental disabilities (PwIDD). (2) Methods: A retrospective epidemiological cohort study was performed on exposed and unexposed groups (the control group) in order to estimate the incidence of AEs in PwIDDs and assess their importance for this category of patients. (3) Results: AEs were observed with a frequency of 30.4% (95% CI) in the PwIDD exposed group, with significant differences to the unexposed group (p = 0.009). No differences were observed with regards to gender. Age was as a marker of care risk, with the highest incidence of AEs in the group of 60-69 years. (4) Conclusions: PwIDDs have a high risk of suffering AEs while receiving health care assistance due to their high social and clinical vulnerability. Health care practitioners must therefore be aware of these results and keep these observations in mind in order to carry out personalized, preventive, competent, effective, and safe medical care.

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4. Berry-Kravis E, Hagerman R, Budimirovic D, Erickson C, Heussler H, Tartaglia N, Cohen J, Tassone F, Dobbins T, Merikle E, Sebree T, Tich N, Palumbo JM, O’Quinn S. A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX). Journal of neurodevelopmental disorders. 2022; 14(1): 56.

BACKGROUND: Fragile X syndrome (FXS) is associated with dysregulated endocannabinoid signaling and may therefore respond to cannabidiol therapy. DESIGN: CONNECT-FX was a double-blind, randomized phase 3 trial assessing efficacy and safety of ZYN002, transdermal cannabidiol gel, for the treatment of behavioral symptoms in children and adolescents with FXS. METHODS: Patients were randomized to 12 weeks of ZYN002 (250 mg or 500 mg daily [weight-based]) or placebo, as add-on to standard of care. The primary endpoint assessed change in social avoidance (SA) measured by the Aberrant Behavior Checklist-Community Edition FXS (ABC-C(FXS)) SA subscale in a full cohort of patients with a FXS full mutation, regardless of the FMR1 methylation status. Ad hoc analyses assessed efficacy in patients with ≥ 90% and 100% methylation of the promoter region of the FMR1 gene, in whom FMR1 gene silencing is most likely. RESULTS: A total of 212 patients, mean age 9.7 years, 75% males, were enrolled. A total of 169 (79.7%) patients presented with ≥ 90% methylation of the FMR1 promoter and full mutation of FMR1. Although statistical significance for the primary endpoint was not achieved in the full cohort, significant improvement was demonstrated in patients with ≥ 90% methylation of FMR1 (nominal P = 0.020). This group also achieved statistically significant improvements in Caregiver Global Impression-Change in SA and isolation, irritable and disruptive behaviors, and social interactions (nominal P-values: P = 0.038, P = 0.028, and P = 0.002). Similar results were seen in patients with 100% methylation of FMR1. ZYN002 was safe and well tolerated. All treatment-emergent adverse events (TEAEs) were mild or moderate. The most common treatment-related TEAE was application site pain (ZYN002: 6.4%; placebo: 1.0%). CONCLUSIONS: In CONNECT-FX, ZYN002 was well tolerated in patients with FXS and demonstrated evidence of efficacy with a favorable benefit risk relationship in patients with ≥ 90% methylation of the FMR1 gene, in whom gene silencing is most likely, and the impact of FXS is typically most severe. TRIAL REGISTRATION: The CONNECT-FX trial is registered on Clinicaltrials.gov (NCT03614663).

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5. Caporali L, Fiorini C, Palombo F, Romagnoli M, Baccari F, Zenesini C, Visconti P, Posar A, Scaduto MC, Ormanbekova D, Battaglia A, Tancredi R, Cameli C, Viggiano M, Olivieri A, Torroni A, Maestrini E, Rochat MJ, Bacchelli E, Carelli V, Maresca A. Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder. Frontiers in genetics. 2022; 13: 953762.

Autism spectrum disorder (ASD) is a clinically heterogeneous class of neurodevelopmental conditions with a strong, albeit complex, genetic basis. The genetic architecture of ASD includes different genetic models, from monogenic transmission at one end, to polygenic risk given by thousands of common variants with small effects at the other end. The mitochondrial DNA (mtDNA) was also proposed as a genetic modifier for ASD, mostly focusing on maternal mtDNA, since the paternal mitogenome is not transmitted to offspring. We extensively studied the potential contribution of mtDNA in ASD pathogenesis and risk through deep next generation sequencing and quantitative PCR in a cohort of 98 families. While the maternally-inherited mtDNA did not seem to predispose to ASD, neither for haplogroups nor for the presence of pathogenic mutations, an unexpected influence of paternal mtDNA, apparently centered on haplogroup U, came from the Italian families extrapolated from the test cohort (n = 74) when compared to the control population. However, this result was not replicated in an independent Italian cohort of 127 families and it is likely due to the elevated paternal age at time of conception. In addition, ASD probands showed a reduced mtDNA content when compared to their unaffected siblings. Multivariable regression analyses indicated that variants with 15%-5% heteroplasmy in probands are associated to a greater severity of ASD based on ADOS-2 criteria, whereas paternal super-haplogroups H and JT were associated with milder phenotypes. In conclusion, our results suggest that the mtDNA impacts on ASD, significantly modifying the phenotypic expression in the Italian population. The unexpected finding of protection induced by paternal mitogenome in term of severity may derive from a role of mtDNA in influencing the accumulation of nuclear de novo mutations or epigenetic alterations in fathers’ germinal cells, affecting the neurodevelopment in the offspring. This result remains preliminary and needs further confirmation in independent cohorts of larger size. If confirmed, it potentially opens a different perspective on how paternal non-inherited mtDNA may predispose or modulate other complex diseases.

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6. Clyde A, Bismar D, Agnew G, Kuper LE. Autism Spectrum Disorder and Anxiety Among Transgender Youth: Use of the Social Communication Questionnaire (SCQ). Journal of autism and developmental disorders. 2022.

Autism spectrum disorder (ASD) and ASD symptoms are overrepresented among gender-diverse youth across studies. Gender-diverse and ASD youth are at risk for anxiety, but anxiety is unclear among gender-diverse youth with ASD. The Social Communication Questionnaire (SCQ) is a commonly used ASD screener, including in multidisciplinary gender-affirming programs, but scholars have disagreed on the most optimal cut-off score. To date, no study has investigated the sensitivity and specificity of its established cut-off score of 15 with a sample of transgender youth. Gaining more accurate information about the utility of ASD screening tools with gender diverse youth is critical in order to help refer youth to needed services. Among a sample of 325 transgender youth, this study sought to determine an optimal cut-off score for the SCQ, the prevalence of ASD and ASD symptoms, and the relationship between ASD and anxiety within this population. The current study found that a lower cut-off score of 11 yielded optimal sensitivity and specificity (i.e., the best balance of accurately identifying individuals with ASD based on the screener), and analyses found an overrepresentation of ASD (5.2%) and ASD traits (12.1%). Transgender youth with ASD or ASD symptoms had higher anxiety, and all youth perceived themselves as more anxious than their parents. Future research is needed to identify the needs of this population, with particular consideration for the lived experiences of gender diverse and transgender youth.

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7. Dwyer P, Vukusic S, Williams ZJ, Saron CD, Rivera SM. « Neural Noise » in Auditory Responses in Young Autistic and Neurotypical Children. Journal of autism and developmental disorders. 2022.

Elevated « neural noise » has been advanced as an explanation of autism and autistic sensory experiences. However, functional neuroimaging measures of neural noise may be vulnerable to contamination by recording noise. This study explored variability of electrophysiological responses to tones of different intensities in 127 autistic and 79 typically-developing children aged 2-5 years old. A rigorous data processing pipeline, including advanced visualizations of different signal sources that were maximally independent across different time lags, was used to identify and eliminate putative recording noise. Inter-trial variability was measured using median absolute deviations (MADs) of EEG amplitudes across trials and inter-trial phase coherence (ITPC). ITPC was elevated in autism in the 50 and 60 dB intensity conditions, suggesting diminished (rather than elevated) neural noise in autism, although reduced ITPC to soft 50 dB sounds was associated with increased loudness discomfort. Autistic and non-autistic participants did not differ in MADs, and indeed, the vast majority of the statistical tests examined in this study yielded no significant effects. These results appear inconsistent with the neural noise account.

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8. Elkin TD, Zhang Y, Reneker JC. Gaze Fixation and Visual Searching Behaviors during an Immersive Virtual Reality Social Skills Training Experience for Children and Youth with Autism Spectrum Disorder: A Pilot Study. Brain sciences. 2022; 12(11).

Children and youth with Autism Spectrum Disorder (ASD) display difficulties recognizing and interacting with behavioral expressions of emotion, a deficit that makes social interaction problematic. Social skills training is foundational to the treatment of ASD, yet this intervention is costly, time-consuming, lacks objectivity, and is difficult to deliver in real-world settings. This pilot project investigated the use of an immersive virtual reality (IVR) headset to simulate real-world social interactions for children/youth with ASD. The primary objective was to describe gaze fixation and visual search behaviors during the simulated activity. Ten participants were enrolled and completed one social-skills training session in the IVR. The results demonstrate differential patterns between participants with mild, moderate, and severe ASD in the location and duration of gaze fixation as well as the patterns of visual searching. Although the results are preliminary, these differences may shed light on phenotypes within the continuum of ASD. Additionally, there may be value in quantifying gaze and visual search behaviors as an objective metric of interventional effectiveness for social-skills training therapy.

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9. Frazão A, Santos S, Rodrigues A, Brandão T, Simões C, Lebre P. Consensus on the Best Practice Guidelines for Psychomotor Intervention in Preschool Children with Autism Spectrum Disorder. Children (Basel, Switzerland). 2022; 9(11).

Psychomotor intervention has been used to promote development by the enhancement of psychomotor and socio-emotional competence. However, studies with high-quality evidence, describing psychomotor-intervention processes and outcomes are scarce. Therefore, we aimed to generate expert consensus regarding psychomotor-intervention guidelines to support psychomotor therapists through the design and implementation of interventions for preschool (3-6 years old) children with autism spectrum disorder (ASD). A formal consensus process was carried out, using modified nominal group (phase I) and Delphi survey (phase II) techniques. We recruited 39 Portuguese experts in psychomotor intervention with preschool children with ASD in phase I. Experts participated in at least one of the five online meetings, discussing themes (e.g., objectives, methods, strategies) concerning psychomotor intervention with preschool children with ASD. A deductive thematic analysis from phase I resulted in 111 statements composing round 1 of the Delphi survey. Thirty-five experts completed round 1, and 23 round 2. The experts reached a consensus (agreement > 75%) on 88 statements, grouped under 16 sections, (e.g., intervention source, general setting, intended facilitation-style), reflecting generic psychomotor-intervention guidelines. Consensus guidelines may be used to support transparent and standard psychomotor interventions, although further studies should be undertaken to determine their efficacy.

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10. Galineau L, Arlicot N, Dupont AC, Briend F, Houy-Durand E, Tauber C, Gomot M, Gissot V, Barantin L, Lefevre A, Vercouillie J, Roussel C, Roux S, Nadal L, Mavel S, Laumonnier F, Belzung C, Chalon S, Emond P, Santiago-Ribeiro MJ, Bonnet-Brilhault F. Glutamatergic synapse in autism: a complex story for a complex disorder. Molecular psychiatry. 2022.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder whose pathophysiological mechanisms are still unclear. Hypotheses suggest a role for glutamate dysfunctions in ASD development, but clinical studies investigating brain and peripheral glutamate levels showed heterogenous results leading to hypo- and hyper-glutamatergic hypotheses of ASD. Recently, studies proposed the implication of elevated mGluR5 densities in brain areas in the pathophysiology of ASD. Thus, our objective was to characterize glutamate dysfunctions in adult subjects with ASD by quantifying (1) glutamate levels in the cingulate cortex and periphery using proton magnetic resonance spectroscopy and metabolomics, and (2) mGluR5 brain density in this population and in a validated animal model of ASD (prenatal exposure to valproate) at developmental stages corresponding to childhood and adolescence in humans using positron emission tomography. No modifications in cingulate Glu levels were observed between individuals with ASD and controls further supporting the difficulty to evaluate modifications in excitatory transmission using spectroscopy in this population, and the complexity of its glutamate-related changes. Our imaging results showed an overall increased density in mGluR5 in adults with ASD, that was only observed mostly subcortically in adolescent male rats prenatally exposed to valproic acid, and not detected in the stage corresponding to childhood in the same animals. This suggest that clinical changes in mGluR5 density could reflect the adaptation of the glutamatergic dysfunctions occurring earlier rather than being key to the pathophysiology of ASD.

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11. Hocking DR, Loesch DZ, Stimpson P, Tassone F, Atkinson A, Storey E. Relationships of Motor Changes with Cognitive and Neuropsychiatric Features in FMR1 Male Carriers Affected with Fragile X-Associated Tremor/Ataxia Syndrome. Brain sciences. 2022; 12(11).

The premutation expansion of the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene on the X chromosome has been linked to a range of clinical and subclinical features. Nearly half of men with FMR1 premutation develop a neurodegenerative disorder; Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). In this syndrome, cognitive executive decline and psychiatric changes may co-occur with major motor features, and in this study, we explored the interrelationships between these three domains in a sample of adult males affected with FXTAS. A sample of 23 adult males aged between 48 and 80 years (mean = 62.3; SD = 8.8), carrying premutation expansions between 45 and 118 CGG repeats, and affected with FXTAS, were included in this study. We employed a battery of cognitive assessments, two standard motor rating scales, and two self-reported measures of psychiatric symptoms. When controlling for age and/or educational level, where appropriate, there were highly significant correlations between motor rating score for ICARS gait domain, and the scores representing global cognitive decline (ACE-III), processing speed (SDMT), immediate memory (Digit Span), and depression and anxiety scores derived from both SCL90 and DASS instruments. Remarkably, close relationships of UPDRS scores, representing the contribution of Parkinsonism to FXTAS phenotypes, were exclusive to psychiatric scores. Highly significant relationships between CGG repeat size and most scores for three phenotypic domains suggest a close tracking with genetic liability. These findings of relationships between a constellation of phenotypic domains in male PM carriers with FXTAS are reminiscent of other conditions associated with disruption to cerebro-cerebellar circuits.

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12. Lowe D, Barrett C, Shepherd C, Charles J, Kalivas B. Pancytopenia due to Restrictive Food Intake in an Autistic Adult. Journal of investigative medicine high impact case reports. 2022; 10: 23247096221139260.

Autism spectrum disorder (ASD) is a neuro-behavioral syndrome that develops in childhood and can be comorbid with restrictive and avoidant food intake disorder. This case details a young man who was hospitalized with pancytopenia due to restrictive nutritional intake related to his severe ASD. He was found to have undetectable vitamin B12 levels. His blood counts improved with transfusion, nutritional supplementation, and dental care. This report illustrates the importance of understanding ASD and potential medical complications of related behaviors.

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13. Luckasson R, Schalock RL, Tassé MJ, Shogren KA. The intellectual and developmental disability shared citizenship paradigm: its cross-cultural status, implementation and confirmation. Journal of intellectual disability research : JIDR. 2022.

BACKGROUND: Dramatic changes in societal approaches to people with intellectual and developmental disabilities (IDD), and the services and supports they receive are reflected in a new paradigm that we name the shared citizenship paradigm. The shared citizenship paradigm (1) incorporates an updated and contemporary set of values and beliefs about people with IDD and their right to participate fully in all aspects of life and society; (2) is characterised by a holistic approach to IDD, a contextual model of human functioning, disability rights principles and person-centred implementation strategies; (3) incorporates the exponential growth in knowledge about the causes and characteristics of IDD and factors influencing the elimination of barriers to positive outcomes for people with IDD; and (4) is reflected in international covenants, such as the United Nations Convention on the Rights of People with Disabilities (UNCRPD), and in international policy goals and associated personal outcome domains. METHOD: We conducted a preliminary survey on the cross-cultural status of the shared citizenship paradigm with a small purposefully sampled international group of professionals known to have extensive knowledge, experience, and publications regarding their country’s current IDD-related policies and practices. RESULTS: One or more paradigm components were evident to a moderate degree in the respondents’ countries, and the paradigm is being used to provide individualised services and supports, to guide organisation transformation and systems change, and, to a lesser degree, to frame evidence-based inquiry. CONCLUSIONS: Core components of the shared citizenship paradigm are present internationally. To further enhance implementation and confirmation of the paradigm, we propose implementation strategies and confirmation techniques.

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14. Maisterrena A, Matas E, Mirfendereski H, Balbous A, Marchand S, Jaber M. The State of the Dopaminergic and Glutamatergic Systems in the Valproic Acid Mouse Model of Autism Spectrum Disorder. Biomolecules. 2022; 12(11).

Autism Spectrum Disorder (ASD) is a progressive neurodevelopmental disorder mainly characterized by deficits in social communication and stereotyped behaviors and interests. Here, we aimed to investigate the state of several key players in the dopamine and glutamate neurotransmission systems in the valproic acid (VPA) animal model that was administered to E12.5 pregnant females as a single dose (450 mg/kg). We report no alterations in the number of mesencephalic dopamine neurons or in protein levels of tyrosine hydroxylase in either the striatum or the nucleus accumbens. In females prenatally exposed to VPA, levels of dopamine were slightly decreased while the ratio of DOPAC/dopamine was increased in the dorsal striatum, suggesting increased turn-over of dopamine tone. In turn, levels of D1 and D2 dopamine receptor mRNAs were increased in the nucleus accumbens of VPA mice suggesting upregulation of the corresponding receptors. We also report decreased protein levels of striatal parvalbumin and increased levels of p-mTOR in the cerebellum and the motor cortex of VPA mice. mRNA levels of mGluR1, mGluR4, and mGluR5 and the glutamate receptor subunits NR1, NR2A, and NR2B were not altered by VPA, nor were protein levels of NR1, NR2A, and NR2B and those of BDNF and TrkB. These findings are of interest as clinical trials aiming at the dopamine and glutamate systems are being considered.

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15. Martinez ME, Stohn JP, Mutina EM, Whitten RJ, Hernandez A. Thyroid hormone elicits intergenerational epigenetic effects on adult social behavior and fetal brain expression of autism susceptibility genes. Frontiers in neuroscience. 2022; 16: 1055116.

Genetic mutations identified in genome-wide association studies can only explain a small percentage of the cases of complex, highly heritable human conditions, including neurological and neurodevelopmental disorders. This suggests that intergenerational epigenetic effects, possibly triggered by environmental circumstances, may contribute to their etiology. We previously described altered DNA methylation signatures in the sperm of mice that experienced developmental overexposure to thyroid hormones as a result of a genetic defect in hormone clearance (DIO3 deficiency). Here we studied fetal brain gene expression and adult social behavior in genetically normal F2 generation descendants of overexposed mice. The brain of F2 generation E13.5 fetuses exhibited abnormal expression of genes associated with autism in humans, including Auts2, Disc1, Ldlr, Per2, Shank3, Oxtr, Igf1, Foxg1, Cd38, Grid2, Nrxn3, and Reln. These abnormal gene expression profiles differed depending on the sex of the exposed ancestor. In the three-chamber social box test, adult F2 generation males manifested significantly decreased interest in social interaction and social novelty, as revealed by decrease total time, distance traveled and time immobile in the area of interaction with novel strangers. F1 generation mice, compared to appropriate controls also exhibited altered profiles in fetal brain gene expression, although these profiles were substantially different to those in the F2 generation. Likewise adult F1 generation mice showed some abnormalities in social behavior that were sexually dimorphic and milder than those in F2 generation mice. Our results indicate that developmental overexposure to thyroid hormone causes intergenerational epigenetic effects impacting social behavior and the expression of autism-related genes during early brain development. Our results open the possibility that altered thyroid hormone states, by eliciting changes in the epigenetic information of the germ line, contribute to the susceptibility and the missing-but heriTables-etiology of complex neurodevelopmental conditions characterized by social deficits, including autism and schizophrenia.

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16. Rong Y, Weng Y, Chen F, Peng G. Categorical perception of Mandarin lexical tones in language-delayed autistic children. Autism : the international journal of research and practice. 2022: 13623613221138687.

Some theories suggested that autistic people have better pitch perception skills than non-autistic people. However, in a context where pitch patterns are used to differentiate word meanings (i.e. lexical tones), autistic people may encounter difficulties, especially those with less language experience. We tested this by asking language-delayed autistic children to identify and discriminate two Mandarin lexical tones (/yi/ with Tone 1, meaning ‘clothes’; /yi/ with Tone 2, meaning ‘aunt’; /yi/: the standard romanization of Mandarin Chinese). On average, these autistic children were 7.35 years old, but their developmental age in language ability was 4.20, lagging behind 7-year-old non-autistic children in terms of language ability. Autistic children’s performance in identifying and discriminating lexical tones was compared with two groups of non-autistic children: one group was matched with the autistic group on age, and the other was matched based on language ability. Autistic children performed differently from the non-autistic children matched on age, while autistic and non-autistic children matched on language ability exhibited seemingly similar performance. However, both the non-autistic groups have developed the perceptual ability to process lexical tones as different categories, but this ability was still developing in autistic children. Finally, we found autistic children who performed worse in identifying lexical tones had poorer language ability. The results suggest that language disability might have adverse influence on the development of skills of speech sound processing.

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17. Shanker S, Pradhan B. Effect of yoga on children with autism spectrum disorder in special schools. Industrial psychiatry journal. 2022; 31(2): 367-9.

INTRODUCTION: Yoga as a holistic mind-body intervention is increasingly evaluated for the management of various autism symptoms in children with autism spectrum disorder (ASD). METHODOLOGY: Forty-three children with ASD from 4 special schools were randomized into two groups, yoga group: 23 children and control group: 20 children. The yoga group received 12 weeks of yoga intervention in special schools. RESULTS: Significant improvement in the yoga group was noted in the overall autism severity (P < 0.001) as reported by the parents in comparison to the control group. CONCLUSION: The findings of the study show that yoga can have a positive impact on the symptomatology of autism.

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18. Urbinati C, Lanzillotta C, Cosentino L, Valenti D, Quattrini MC, Di Crescenzo L, Prestia F, Pietraforte D, Perluigi M, Di Domenico F, Vacca RA, De Filippis B. Chronic treatment with the anti-diabetic drug metformin rescues impaired brain mitochondrial activity and selectively ameliorates defective cognitive flexibility in a female mouse model of Rett syndrome. Neuropharmacology. 2022: 109350.

Metformin is the most common anti-diabetic drug and a promising therapy for disorders beyond diabetes, including Rett syndrome (RTT), a rare neurologic disease characterized by severe intellectual disability. A 10-day-long treatment rescued aberrant mitochondrial activity and restrained oxidative stress in a female RTT mouse model. However, this treatment regimen did not improve the phenotype of RTT mice. In the present study, we demonstrate that a 4-month-long treatment with metformin (150 mg/Kg/day, delivered in drinking bottles) provides a selective normalization of cognitive flexibility defects in RTT female mice at an advanced stage of disease, but it does not affect their impaired general health status and abnormal motor skills. The 4-month-long treatment also rescues the reduced activity of mitochondrial respiratory chain complex activities, the defective brain ATP production and levels as well as the increased production of reactive oxidizing species in the whole blood of RTT mice. A significant boost of PGC-1α-dependent pathways related to mitochondrial biogenesis and antioxidant defense occurs in the brain of RTT mice that received the metformin treatment. Further studies will have to verify whether these effects may underlie its long-lasting beneficial effects on brain energy metabolism.

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19. van der Lubbe A, Swaab H, Vermeiren R, Ester WA. Stress, Eating Behavior and Adverse Health in Parents of Young Children with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2022: 1-11.

Mothers of children with Autism Spectrum Disorder (ASD) often experience chronic stress and are at risk for adverse health. However, little is known about fathers, especially when their child is in early childhood. Parenting stress, eating behavior and physical health was evaluated in mothers (n = 48) and fathers (n = 43) of young children (3-7 years) with ASD by questionnaires and physical measurements. Mother’s prevalence rates of obesity (39.1%), abdominal obesity (59.6%) and metabolic syndrome (21.6%) were higher than the norm. In fathers, the prevalence rate of clinical parenting stress (33%) was higher than the norm. Parenting stress was positively related to disinhibited eating in mothers, not in fathers. It is crucial to monitor stress and health of parents of children with ASD.

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20. Yan F, Shah A, Isaacson G. Tympanostomy Tube Placement in Children with Autism Spectrum Disorder. The Laryngoscope. 2022.

OBJECTIVE: The frequency of tympanostomy tube (TT) placement among United States children with autism spectrum disorder (ASD) is not known. We explored the rate of TT placement in children with ASD in the United States and compared this to children without ASD. We further examined demographic and behavioral factors that might vary between the two groups. METHODS: We utilized data from the National Health Interview Survey (NHIS) administered in 2014. This survey samples a representative population of patients across the United States and includes children under 18 years of age. The 2014 version of the NHIS survey was chosen as it identifies both autism and TT placement among sampled patients. Descriptive statistics and univariable and multivariable logistic regression analyses were performed. RESULTS: In total, 11,730 children (239 [2.0%] with ASD) were included. Overall, 34 (14.2%) children with ASD underwent TT placement versus 987 (8.6%) in children without ASD (p = 0.002) ASD diagnosis was associated with increased odds of TT placement (1.52 OR, 95% CI 1.04-2.22). Male sex, white race, and non-Hispanic ethnicity were also associated with increased odds of TT placement. Age at the time of TT surgery was not different between those with versus without ASD. CONCLUSION: Children with ASD have an increased rate of TT placement compared to children without ASD. The reason(s) for this increased rate might include the following: higher rates of infection in ASD, over-diagnosis of ear infection or hearing disability in a difficult-to-examine population, and/or a predilection toward aggressive treatment in this at-risk group. LEVEL OF EVIDENCE: 3-National database study Laryngoscope, 2022.

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21. Zamir A, Band-Winterstein T. « I Do Not Think She Will Understand, This is Not a Situation for a Girl Like Her: » Disenfranchised Grief Among Adults with Intellectual and Developmental Disabilities in the Ultra-orthodox Jewish Society. Omega. 2022: 302228221141941.

This article examines the experience of aging ultra-Orthodox families alongside a person with intellectual and developmental disabilities (IDD) in relation to parents’ illness and death, followed by grief. In-depth interviews were conducted with 14 family units. Each family unit included the person with IDD, a parent, and a sibling-a total of 43 participants. Three main themes emerged: A. The difficulty in confronting illness and dying of parents alongside a family member with IDD in an Ultra-Orthodox Context. B. Exclusion of the person with IDD from parents’ memorial events. C. Religious ceremonies as a strategy for coping with mourning among persons with IDD. The discussion focuses on the concept of disenfranchised grief in a religious context and its impact on the family support system. Culturally sensitive therapeutic recommendations are made for professionals working with older ultra-Orthodox Jewish families alongside a person with IDD in the context of the subject.

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